{"HP_MULTICYSTIC_KIDNEY_DYSPLASIA":{"collection":"C5:HPO","systematicName":"M34476","pmid":"","exactSource":"HP:0000003","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000003","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MULTICYSTIC_KIDNEY_DYSPLASIA","geneSymbols":["ACTG2","AMER1","ARL3","ARL6","ARL6IP6","B3GLCT","B4GAT1","B9D1","B9D2","BBIP1","BBS1","BBS10","BBS12","BBS2","BBS4","BBS5","BBS7","BBS9","BRD4","BUB1","BUB1B","BUB3","CC2D2A","CD96","CEP19","CEP290","CEP57","CFAP418","CHRM3","CSPP1","DHCR7","EYA1","FIBP","FLI1","FRAS1","FREM2","GNA11","GPC3","GPC4","GREB1L","GRIP1","HDAC4","HDAC8","HNF1B","HOXD13","IFT172","IFT27","IFT74","INPP5E","KAT6B","LAMA3","LAMB3","LAMC2","LHX1","LIG1","LMOD1","LZTFL1","MBTPS2","MCTP2","MKKS","MKS1","MYH11","MYLK","NIPBL","NPHP1","NPHP3","NRIP1","NXN","OFD1","PAX2","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PIEZO2","PIGN","PORCN","RAD21","ROR2","RPGRIP1","RPGRIP1L","RSPO2","SALL1","SCAPER","SCLT1","SDCCAG8","SF3B2","SH2B1","SIX1","SIX5","SMC1A","SMC3","SNRPB","SPOP","TCTN1","TCTN2","TCTN3","TFAP2A","TMEM107","TMEM216","TMEM231","TMEM237","TMEM67","TRIM32","TRIP13","TTC8","TXNDC15","WDPCP","WNT3","ZEB2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RECURRENT_URINARY_TRACT_INFECTIONS":{"collection":"C5:HPO","systematicName":"M34477","pmid":"","exactSource":"HP:0000010","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000010","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_URINARY_TRACT_INFECTIONS","geneSymbols":["ADNP","AGXT","ALG5","ALG9","ALMS1","APRT","ARL3","ATP7A","ATRX","BAZ1B","BCL7B","BCR","BICC1","BLM","BNC2","BRCA1","BRCA2","BRIP1","BTK","BUD23","CDC42BPB","CFI","CHRM3","CHRNA3","CIITA","CISD2","CLDN16","CLDN19","CLEC7A","CLIP2","CR2","CREBBP","CRKL","DNAJB11","DNAJC30","DYRK1A","DZIP1L","EFEMP2","EIF4H","ELN","EN1","EP300","ERCC4","EXT1","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FARSB","FBLN5","FKBP6","FLVCR1","FOCAD","FOXC2","G6PC3","GANAB","GRHPR","GTF2I","GTF2IRD1","GTF2IRD2","HLA-B","HOXA13","HPSE2","HSPA9","IFT140","IGHG2","IGKC","IL17F","IL17RA","IL17RC","IL2RB","ISL1","KANSL1","KAT5","KAT6A","KCTD1","KNSTRN","LAMA3","LAMB3","LAMC2","LIMK1","LMNB1","LRIG2","LTBP1","MAD2L2","MAN2B1","MAPK1","MC2R","MED12","METTL27","MINPP1","MLXIPL","MNX1","MRAP","MSN","MYL9","NAE1","NBN","NCF1","NNT","PALB2","PEPD","PIK3CD","PIK3CG","PKD1","PKD2","PKHD1","PNP","POLR3A","POLR3GL","PRKCD","PRMT7","RAD21","RAD51","RAD51C","RELB","RFC2","RFWD3","RFX5","RFXANK","RFXAP","RNU7-1","SAMD9","SATB1","SHANK3","SLC35C1","SLC3A1","SLC46A1","SLC5A2","SLC7A9","SLX4","SMARCA2","SOX17","STAR","STX1A","TBL2","THOC6","TMEM270","TNXB","TP63","TRAF3IP2","TRAIP","TRPS1","TXNRD2","UBE2T","VPS37D","WASF1","WFS1","XRCC2","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NEUROGENIC_BLADDER":{"collection":"C5:HPO","systematicName":"M34478","pmid":"","exactSource":"HP:0000011","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000011","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEUROGENIC_BLADDER","geneSymbols":["ACER3","ARNT2","ATP13A2","ATXN3","CEP85L","CHCHD10","CHRNA3","CISD2","CLCN6","COG5","COG7","ELOVL1","EN1","EPHB4","ERCC6","ERCC8","FARS2","FBXO7","GBE1","GJA1","GNB1","HES7","LIG3","MACF1","MAP3K7","MARS2","MNX1","MTFMT","NOTCH3","PEX3","PLP1","PPOX","RASA1","SNCA","TBCD","TBCK","TRAPPC12","VANGL1","VPS11","WFS1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_URINARY_URGENCY":{"collection":"C5:HPO","systematicName":"M34479","pmid":"","exactSource":"HP:0000012","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000012","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_URINARY_URGENCY","geneSymbols":["ABCD1","ADH1C","ALDH18A1","ALMS1","ATL1","ATP13A2","ATP1A3","ATXN10","ATXN2","ATXN8OS","B4GALNT1","CACNA1G","COQ2","CPT1C","EIF2AK1","FA2H","FAR1","GBA1","GLUD2","GNB2","HPDL","HSPD1","KCNC3","KIF5A","KPNA3","LMNB1","LRIG2","MAPT","MARS2","MED27","MT-TT","NIPA1","NR4A2","PI4KA","PINK1","PLP1","PNPT1","REEP1","RTN2","SACS","SNCA","SNCAIP","SPART","SPAST","SPG11","SPG7","TBP","TPP1","TRPV4","UBAP1","WASHC5","ZFYVE26"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPOPLASIA_OF_THE_UTERUS":{"collection":"C5:HPO","systematicName":"M34480","pmid":"","exactSource":"HP:0000013","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000013","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASIA_OF_THE_UTERUS","geneSymbols":["ADH5","B3GLCT","BMP15","BMPR1B","C14orf39","CHD7","CLPP","COX7B","CYB5A","CYP11B1","CYP17A1","DCAF17","DHH","DUSP6","ERAL1","ESR1","FGF17","FGF8","FGFR1","FIGLA","FOXL2","GNRH1","GNRHR","HCCS","HNF1B","HS6ST1","IRF6","KIF14","KISS1","KISS1R","LARS2","MRPS22","MSH5","NDUFB11","NHLH2","NIN","NR5A1","NSMF","NUP107","POR","PPP2R3C","PROK2","PROKR2","SOHLH1","SOX11","SPIDR","SPRY4","STRA6","TAC3","TACR3","WDR11","WNT4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_BLADDER":{"collection":"C5:HPO","systematicName":"M34481","pmid":"","exactSource":"HP:0000014","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000014","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_BLADDER","geneSymbols":["ABCD1","ACER3","ACTG2","ADH1C","ADNP","AFF4","AGXT","AIP","AKT1","ALDH18A1","ALG9","ALMS1","ALS2","AMFR","ANKLE2","AP5Z1","APC2","APRT","AQP2","ARNT2","ARSA","ARVCF","ARX","ASPM","ASXL1","ATL1","ATP13A2","ATP1A3","ATP7A","ATRX","ATXN1","ATXN10","ATXN2","ATXN3","ATXN8OS","AUH","AVPR2","B4GALNT1","BAP1","BAZ1B","BCL7B","BICC1","BIN1","BMP1","BNC2","BPTF","BRD4","BUD23","CABP4","CACNA1G","CACNA1H","CACNA1S","CAMK2B","CAPN1","CARMIL2","CC2D2A","CCBE1","CCL2","CCND1","CCNQ","CDC45","CDH11","CDK5RAP2","CDK6","CDKN1C","CENPE","CENPJ","CEP135","CEP152","CEP63","CEP85L","CFAP43","CHCHD10","CHD4","CHD7","CHMP2B","CHRM3","CHRNA2","CHRNA3","CHRNA4","CHRNB2","CHST14","CISD2","CIT","CLCN6","CLCNKB","CLIP2","CLN3","COG5","COG7","COL18A1","COL1A1","COL1A2","COL3A1","COL5A1","COL5A2","COL7A1","COMT","COPB1","COPB2","COQ2","CPT1C","CREBBP","CRH","CYP7B1","DACT1","DARS2","DBH","DCDC2","DDHD2","DDX6","DEPDC5","DKK1","DLG3","DMPK","DNAJC13","DNAJC30","DNM2","DNMT1","DNMT3A","DPH1","DPH2","DPH5","DSE","DSTYK","DVL3","DYSF","EBF3","EFEMP2","EHMT1","EIF2AK1","EIF2AK2","EIF4G1","EIF4H","ELN","ELOVL1","EN1","EP300","EPHB4","ERCC6","ERCC8","ERLIN2","EXT1","EXT2","EYA1","FA2H","FAM20A","FANCF","FANCI","FAR1","FARS2","FBLN5","FBXO7","FGF10","FGFR2","FGFR3","FITM2","FKBP14","FKBP6","FLNA","FLVCR1","FMR1","FOXF1","FOXP1","FOXP2","FREM2","FRMD5","FUS","FUZ","FXN","G6PC3","GAA","GABRA1","GABRA3","GABRB3","GABRG2","GALC","GALNT2","GATA3","GBA1","GBA2","GBE1","GFAP","GGT1","GIGYF2","GJA1","GJC2","GLUD2","GNB1","GNB2","GP1BB","GPR101","GREB1L","GRIP1","GTF2I","GTF2IRD1","GTF2IRD2","H4C9","HAAO","HACE1","HDAC8","HES7","HEXB","HIRA","HLA-B","HLA-DQB1","HLA-DRB1","HMBS","HNRNPA1","HNRNPA2B1","HNRNPK","HNRNPU","HOGA1","HOXA13","HPDL","HPRT1","HPSE2","HS6ST2","HSPA9","HSPD1","HTRA1","IFT57","IGF2","IGHMBP2","IKZF1","ISL1","ITGA6","ITGB4","JAG1","JMJD1C","JRK","KANSL1","KAT5","KCNC3","KCND3","KCNJ10","KCNJ18","KCNQ1","KCNQ1OT1","KCNT1","KIF14","KIF1A","KIF5A","KIFBP","KMT2B","KMT2C","KNL1","KPNA3","KRAS","KY","LAMA3","LAMB3","LAMC2","LIG3","LIMK1","LMNB1","LMOD1","LRIG2","LRRK2","LTBP1","LTBP4","MACF1","MAP3K7","MAPKAPK5","MAPKBP1","MAPT","MARS2","MBTPS2","MCM7","MCPH1","MED12","MED27","METTL27","METTL5","MFSD2A","MID1","MKKS","MKS1","MLXIPL","MMP1","MNX1","MORC2","MPZ","MT-TT","MTFMT","MTMR14","MYCN","MYF6","MYH11","MYL9","MYLK","MYO1H","MYOCD","MYRF","NAB2","NBN","NCAPD3","NCAPG2","NCF1","NDUFB8","NEFL","NEXMIF","NF2","NFIA","NGF","NIPA1","NIPBL","NKX2-1","NOTCH2NLC","NOTCH3","NPHP3","NR4A2","NRIP1","NSD1","NUP37","OTUD5","PAH","PAK2","PANK2","PAX2","PAX6","PBX1","PDCD1","PDGFB","PDGFRB","PEX11B","PEX3","PHC1","PI4KA","PIGA","PIGN","PIGO","PIGQ","PIK3CA","PIK3R5","PINK1","PLA2G6","PLEC","PLOD1","PLP1","PLXNA1","PMP22","PNPT1","POLG","POLG2","POLR3A","POLRMT","POR","POT1","PPOX","PPP3CA","PRDM8","PRKAR1B","PRMT7","PRNP","PSAP","PSMD12","PUF60","PYCR2","RAC2","RAD21","RALGAPA1","RARB","RASA1","RBCK1","RBM8A","RECQL4","REEP1","REEP2","RERE","RETREG1","RFC2","RNF125","RNF168","RNF170","ROBO1","ROBO2","RPL11","RREB1","RRM2B","RSRC1","RTN2","RYR1","SACS","SALL1","SALL4","SARS1","SASS6","SBF1","SCN9A","SDHA","SDHAF1","SDHB","SDHD","SEC24C","SEMA3E","SETD2","SETX","SF3B2","SH2B1","SHANK3","SIGMAR1","SIX1","SIX5","SLC12A3","SLC1A4","SLC20A2","SLC25A13","SLC25A4","SLC2A1","SLC35A2","SLC44A1","SLC5A2","SLC9A6","SMAD3","SMARCA2","SMARCB1","SMARCE1","SMC1A","SMC3","SMO","SNCA","SNCAIP","SOX17","SP110","SPART","SPAST","SPG11","SPG7","SPOP","SPTLC1","SQSTM1","STAMBP","STAT1","STAT6","STIL","STK11","STRA6","STUB1","STX1A","SUFU","SYNE1","TAF13","TBCD","TBCK","TBL2","TBP","TBX1","TBXT","TERT","TGFB1","TIMM50","TMEM270","TNXB","TOM1","TP63","TPP1","TRAF7","TRAPPC10","TRAPPC12","TRAPPC14","TRIO","TRPS1","TRPV4","TRRAP","TTR","TWNK","TYROBP","UBAP1","UBE2A","UFC1","UFD1","UNC45A","UPB1","VANGL1","VANGL2","VCP","VPS11","VPS35","VPS37D","WARS1","WASHC5","WDR62","WFS1","WNT4","WNT7B","WWOX","ZC4H2","ZEB2","ZFYVE26","ZMIZ1","ZMYM2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BLADDER_DIVERTICULUM":{"collection":"C5:HPO","systematicName":"M34482","pmid":"","exactSource":"HP:0000015","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000015","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BLADDER_DIVERTICULUM","geneSymbols":["ALDH18A1","ATP7A","BAZ1B","BCL7B","BUD23","CLIP2","COL1A1","COL1A2","COL3A1","COL5A1","COL5A2","DNAJC30","EFEMP2","EIF4H","ELN","FBLN5","FKBP14","FKBP6","GTF2I","GTF2IRD1","GTF2IRD2","LIMK1","LTBP1","LTBP4","MED12","METTL27","MLXIPL","NCF1","PLOD1","RFC2","SALL4","STX1A","TBL2","TMEM270","TP63","VPS37D"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_URINARY_RETENTION":{"collection":"C5:HPO","systematicName":"M34483","pmid":"","exactSource":"HP:0000016","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000016","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_URINARY_RETENTION","geneSymbols":["ABCD1","ACTG2","ALDH18A1","ALMS1","APRT","ASXL1","BNC2","CACNA1S","CAMK2B","ERCC6","ERCC8","EXT1","EXT2","GABRA3","HMBS","KCNJ18","LAMA3","LAMB3","LAMC2","LMNB1","NAB2","PRNP","RASA1","SP110","STAT6","TGFB1","VANGL1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NOCTURIA":{"collection":"C5:HPO","systematicName":"M34484","pmid":"","exactSource":"HP:0000017","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000017","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NOCTURIA","geneSymbols":["CLCNKB","DBH","PLA2G6","POLG","POLG2","RRM2B","SLC12A3","SLC25A4","TWNK"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_URINARY_INCONTINENCE":{"collection":"C5:HPO","systematicName":"M41211","pmid":"","exactSource":"HP:0000020","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000020","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_URINARY_INCONTINENCE","geneSymbols":["ABCD1","ADNP","AKT1","ALDH18A1","ALMS1","ALS2","AP5Z1","ARSA","ARX","ATL1","ATP13A2","ATXN10","ATXN2","ATXN8OS","AUH","BAP1","BIN1","BNC2","CABP4","CACNA1G","CACNA1H","CAPN1","CCL2","CFAP43","CHMP2B","CHRNA2","CHRNA4","CHRNB2","CLCNKB","COG5","COPB1","COQ2","CPT1C","CRH","CYP7B1","DDHD2","DEPDC5","DKK1","DNM2","DNMT1","DPH5","EIF2AK2","FA2H","FAR1","FARS2","FGFR3","FITM2","FLVCR1","FMR1","FRMD5","FUS","FUZ","GAA","GABRA1","GABRB3","GABRG2","GALC","GALNT2","GBA2","GBE1","GGT1","GJC2","HACE1","HEXB","HLA-DQB1","HLA-DRB1","HMBS","HPSE2","HS6ST2","HSPD1","HTRA1","IFT57","IGHMBP2","JRK","KCNC3","KCND3","KCNT1","KIF5A","KMT2B","KY","LRIG2","MNX1","MORC2","MTMR14","MYF6","MYO1H","NEFL","NEXMIF","NF2","NGF","NIPA1","NOTCH2NLC","NOTCH3","PANK2","PDCD1","PDGFB","PDGFRB","PEX11B","PIK3CA","POT1","PRDM8","PSAP","RETREG1","RNF170","RSRC1","RTN2","RYR1","SACS","SBF1","SCN9A","SIGMAR1","SLC12A3","SLC1A4","SLC20A2","SLC2A1","SLC44A1","SLC9A6","SMARCB1","SMARCE1","SMO","SPAST","SPG11","SPG7","SPTLC1","SQSTM1","STUB1","SUFU","SYNE1","TBCD","TBP","TBXT","TERT","TIMM50","TRAF7","TRIO","TRPV4","TTR","TYROBP","UBAP1","VANGL1","VANGL2","VCP","WASHC5","ZC4H2","ZEB2","ZFYVE26","ZMYM2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MEGACYSTIS":{"collection":"C5:HPO","systematicName":"M41212","pmid":"","exactSource":"HP:0000021","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000021","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MEGACYSTIS","geneSymbols":["ACTG2","AQP2","AVPR2","LMOD1","LRIG2","MYH11","MYL9","MYLK","NKX2-1","TP63"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_MALE_INTERNAL_GENITALIA_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M34485","pmid":"","exactSource":"HP:0000022","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000022","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MALE_INTERNAL_GENITALIA_MORPHOLOGY","geneSymbols":["AAGAB","ADGRG2","APC","AR","BARD1","BMPR1A","BRCA1","BRCA2","BRIP1","BTK","CCND1","CDH1","CDKN2A","CEACAM3","CEACAM6","CFTR","CHEK2","CLCA4","CLDN2","COL14A1","CREBBP","CTLA4","DCTN4","DHH","DHX37","EDNRA","EP300","EPHB2","FOXE1","GCLC","GREM1","GSTM3","HFE","HGD","HLA-DPA1","HLA-DPB1","HMOX1","HNF1B","IGHG2","IGKC","KCNN4","KLF6","MAD1L1","MDM2","MIF","MRE11","MXI1","NAB2","NBN","NR5A1","NTHL1","PALB2","PHF6","PRTN3","PSMB8","PTEN","PTPN22","RAD50","RAD51","RAD51C","RAD51D","RNASEL","RNF43","SERPINA1","SLC11A1","SLC26A9","SLC6A14","SLC9A3","SOX9","SRCAP","SRY","STAT6","STX1A","TGFB1","TP53","UNG","VHL","ZFHX3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INGUINAL_HERNIA":{"collection":"C5:HPO","systematicName":"M34486","pmid":"","exactSource":"HP:0000023","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000023","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INGUINAL_HERNIA","geneSymbols":["ABCD4","ACTA2","ADAMTS2","ADAMTSL2","ADNP","AEBP1","AGA","ALDH18A1","AMH","AMHR2","AP1S2","APC2","AR","ARID1A","ARID1B","ARPC4","ARSB","ARVCF","ARX","ATAD1","ATP1A2","ATP6V0A2","ATP6V1A","ATP6V1E1","ATP7A","AUTS2","B3GAT3","B3GLCT","BAZ1B","BCL7B","BCR","BMPER","BRAT1","BRF1","BUB1","BUD23","C1R","C1S","CBS","CC2D2A","CCDC22","CDC42","CDKN1C","CHD3","CHRNG","CHST14","CHST3","CLCN4","CLDN19","CLIP2","COL1A1","COL1A2","COL2A1","COL3A1","COL5A1","COL5A2","COMT","COX11","CREBBP","CRKL","CSNK2A1","CTCF","CTNND2","CUL4B","CWC27","DDX6","DGCR2","DGCR6","DGCR8","DICER1","DIS3L2","DLK1","DLL3","DNAJB4","DNAJC30","DPH1","DPH2","DPP9","DPYSL5","DSE","DVL1","DVL3","DYRK1A","EED","EFEMP2","EHMT1","EIF4H","ELN","ELOVL4","ESS2","EZH2","FANCB","FARSB","FAT4","FBLN5","FBN1","FBXW11","FGD1","FGFR1","FIBP","FKBP14","FKBP6","FLI1","FLNA","FLNB","FOCAD","FOXE3","FZD2","G6PC3","GALNS","GATA4","GATA6","GDF1","GDF11","GLB1","GLI3","GLRA1","GNB2","GNE","GNPAT","GNPTAB","GNS","GP1BB","GPC3","GPC4","GPHN","GRIN2B","GTF2I","GTF2IRD1","GTF2IRD2","GUSB","GZF1","H19","HES7","HEY2","HIRA","HMGA2","HSPG2","IDS","IDUA","IFT122","IGF2","INPP5E","IPO8","IRX5","ISL1","JMJD1C","KCNQ1OT1","KDM3B","KDM5B","KIF7","KMT2C","LDHD","LFNG","LIMK1","LOX","LRPPRC","LTBP1","LTBP4","MAF","MAN2B1","MAPK1","MAPRE2","MAT2A","MBTPS1","MBTPS2","MDFIC","MED12","MED25","MEG3","MEIS2","MESP2","METTL27","MFAP5","MID1","MLXIPL","MTFMT","MYH11","MYH3","MYLK","NAA10","NALCN","NAT8L","NCF1","NDUFA8","NEU1","NFIA","NIPBL","NOTCH1","NOTCH2","NOTCH3","NPHP3","NSD1","NXN","OCRL","ODC1","OFD1","P3H1","PACS1","PAFAH1B1","PHGDH","PIEZO2","PIGL","PIGQ","PIGS","PIGW","PIGY","PIK3R1","PLAG1","PLD1","PLOD1","PLOD2","POGZ","POLR2A","PORCN","PPP2CA","PPP2R1A","PRDM5","PRKG1","PTDSS1","PUF60","PYCR1","RAB3GAP2","RFC2","RIC1","RIPK4","RIPPLY2","RNF13","ROR2","RPGRIP1L","RPL10","RPS6KA3","RREB1","RTL1","SATB2","SEC24C","SEC31A","SEMA5A","SERPINH1","SET","SETBP1","SETD2","SGSH","SH3PXD2B","SHOC2","SHPK","SIN3A","SKI","SKIC2","SKIC3","SLC10A7","SLC26A2","SLC2A10","SLC37A4","SLC5A6","SMAD2","SMAD3","SMAD4","SMARCA2","SMARCB1","SMARCC2","SMCHD1","SRCAP","STRA6","STX1A","SUZ12","TASP1","TBL2","TBX1","TBX3","TGDS","TGFB2","TGFB3","TGFBR1","TGFBR2","THSD4","TMCO1","TMEM107","TMEM270","TMEM67","TMEM70","TNRC6B","TOR1A","TP63","TRPV6","TRRAP","TTC26","TUBB","TXNL4A","UBA1","UFD1","VPS35L","VPS37D","WASHC5","WDR19","WDR35","WNT5A","XRCC4","YWHAE","ZEB1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PROSTATITIS":{"collection":"C5:HPO","systematicName":"M34487","pmid":"","exactSource":"HP:0000024","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000024","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROSTATITIS","geneSymbols":["BTK","CTLA4","HGD","HLA-DPA1","HLA-DPB1","PRTN3","PTPN22"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MALE_HYPOGONADISM":{"collection":"C5:HPO","systematicName":"M34489","pmid":"","exactSource":"HP:0000026","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000026","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MALE_HYPOGONADISM","geneSymbols":["ABCD1","AIP","AIRE","ANAPC1","CDH23","CHD7","CISD2","CTNS","CYP17A1","DHH","DUSP6","EIF2S3","ERCC1","ERCC4","ERCC6","ERCC8","FGF17","FGF8","FGFR1","FSHB","GNRH1","GNRHR","HS6ST1","IFT172","KISS1","KISS1R","LHB","MECP2","MEN1","NHLH2","NR0B1","NR5A1","NSMF","POLA1","POLD1","PROK2","PROKR2","SOX3","SOX9","SPRY4","SRY","TAC3","TACR3","WDR11","WFS1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CRYPTORCHIDISM":{"collection":"C5:HPO","systematicName":"M34490","pmid":"","exactSource":"HP:0000028","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000028","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CRYPTORCHIDISM","geneSymbols":["AARS1","ABCD4","ABL1","ACTA2","ACTB","ACTG2","ADARB1","ADAT3","ADNP","AEBP1","AFF4","AKR1C2","AKR1C4","ALDH18A1","ALDH1A2","ALG12","ALG8","ALKBH8","ALX4","AMH","AMHR2","ANAPC1","ANK1","ANKLE2","ANKRD11","ANOS1","AP1S2","APC2","AR","ARCN1","ARID1A","ARID1B","ARID2","ARL6","ARNT2","ARVCF","ARX","ASH1L","ASXL3","ATAD3A","ATN1","ATP6V0A2","ATP6V1A","ATP6V1E1","ATR","ATRX","AUTS2","AXL","B3GALNT2","B3GLCT","B4GALT7","B4GAT1","B9D1","B9D2","BAZ1B","BBIP1","BBS1","BBS10","BBS12","BBS2","BBS4","BBS5","BBS7","BBS9","BCL7B","BCOR","BDNF","BICRA","BIN1","BLM","BMP4","BRAF","BRCA1","BRCA2","BRD4","BRF1","BRIP1","BRWD3","BUB1B","BUD23","C2CD3","CAMK2A","CAMSAP1","CARS1","CASZ1","CBL","CC2D2A","CCBE1","CCDC141","CCDC174","CCDC22","CCDC32","CD96","CDC42","CDC42BPB","CDC45","CDC6","CDCA7","CDH11","CDH2","CDK8","CDKN1C","CDON","CDT1","CEP120","CEP152","CEP19","CEP290","CFAP418","CHD4","CHD7","CHRM3","CHRNG","CHST14","CILK1","CITED2","CKAP2L","CLCN3","CLCN4","CLIP2","CLP1","COG1","COG5","COL3A1","COL4A1","COLEC10","COLEC11","COMT","CPE","CPLANE1","CPLX1","CREBBP","CRPPA","CSPP1","CTBP1","CTCF","CUL4B","CWC27","CYB5A","CYP11A1","CYP17A1","CYP19A1","DACT1","DAG1","DAZ1","DAZ2","DAZ3","DAZ4","DCC","DDB2","DDX3X","DDX3Y","DDX59","DDX6","DGCR2","DGCR6","DGCR8","DHCR7","DHDDS","DHODH","DHX37","DIS3L2","DKC1","DLK1","DLL3","DLX4","DMRT3","DNAJC19","DNAJC21","DNAJC30","DNM2","DNMT3A","DOK7","DPAGT1","DPF2","DPP9","DPYSL5","DSE","DTYMK","DUSP6","DVL1","DVL3","DYNC2H1","DYNC2I1","DYNC2I2","DYNC2LI1","DYRK1A","EBF3","EBP","EED","EFNB1","EHMT1","EIF2S3","EIF4H","EIF5A","ELN","EMG1","EP300","ERCC1","ERCC2","ERCC3","ERCC4","ERCC5","ERCC6","ERCC8","ESCO2","ESS2","EVC","EVC2","EXT2","EZH2","FAM149B1","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FARS2","FAT4","FBLN1","FBN1","FBXW7","FDFT1","FEZF1","FGD1","FGF10","FGF17","FGF8","FGFR1","FGFR2","FGFR3","FGFRL1","FIG4","FKBP6","FKRP","FKTN","FLG","FLI1","FLNA","FLNB","FLRT3","FLT4","FMR1","FRAS1","FREM2","FTO","FUZ","FXR1","FZD2","G6PC3","GABRD","GALT","GATA1","GATA4","GATA5","GATA6","GDF1","GFM2","GJA5","GK","GLE1","GLI1","GLI2","GLI3","GMNN","GMPPB","GNB2","GNRH1","GNRHR","GP1BB","GPC3","GPC4","GPC6","GPR161","GRB10","GRIA2","GRIA3","GRIN2B","GRIP1","GSC","GTF2E2","GTF2H5","GTF2I","GTF2IRD1","GTF2IRD2","H1-4","H19","H4C9","HBA1","HBA2","HDAC4","HDAC8","HERC2","HES7","HESX1","HIBCH","HIRA","HMGA2","HNF1B","HNRNPH1","HNRNPK","HNRNPR","HOXD13","HPSE2","HRAS","HS2ST1","HS6ST1","HSD17B3","HSD3B2","HSPG2","HUWE1","HYLS1","HYMAI","IER3IP1","IFT172","IFT27","IFT74","IFT80","IGBP1","IGF2","IL17RD","INPPL1","INSL3","IRF6","IRX5","JAG1","JAM3","JMJD1C","KANSL1","KAT5","KAT6A","KAT6B","KCNAB2","KCNQ1","KCNQ1OT1","KDM1A","KDM3B","KDM5B","KDM5C","KDM6A","KDM6B","KDR","KIAA0753","KIF21A","KIF7","KISS1","KISS1R","KLHL15","KMT2A","KMT2D","KMT2E","KMT5B","KRAS","LARGE1","LAS1L","LETM1","LFNG","LHX1","LHX4","LIG4","LIMK1","LMBR1","LMNB2","LMOD1","LMX1B","LONP1","LRIG2","LSS","LUZP1","LZTFL1","LZTR1","MAD2L2","MADD","MAF","MAGEL2","MAMLD1","MAP2K1","MAP2K2","MAP3K1","MAP3K7","MAPK1","MAPRE2","MASP1","MBD5","MBTPS2","MC2R","MCM5","MCTP2","MECP2","MED11","MED12","MED13L","MEG3","MEGF8","MESP2","METTL27","MID1","MINPP1","MKKS","MKRN3","MKS1","MLXIPL","MMP23B","MPLKIP","MRAP","MRAS","MRPS28","MTM1","MTMR14","MTOR","MUSK","MYF6","MYH11","MYH3","MYL11","MYLK","MYMK","MYOD1","MYRF","NAA10","NAF1","NALCN","NCF1","NDN","NDNF","NDP","NDUFB7","NEDD4L","NELFA","NF1","NFIB","NFIX","NHLH2","NIPBL","NKAP","NKX2-5","NKX2-6","NNT","NONO","NOTCH2","NOTCH3","NPAP1","NPHP1","NR0B1","NR5A1","NRAS","NSD1","NSD2","NSMF","NSUN2","NUP88","NXN","OCA2","OCRL","ODC1","OFD1","OGT","OPHN1","ORC1","ORC4","ORC6","OTUD5","OTUD6B","OTX2","PACS1","PACS2","PAICS","PALB2","PAX2","PAX6","PAX7","PBX1","PDE4D","PDE6D","PDPN","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PHACTR1","PHF6","PHF8","PHGDH","PHIP","PIEZO2","PIGG","PIGN","PIGS","PIK3C2A","PLAG1","PLAGL1","PLVAP","PNPLA6","POLA1","POLD1","POLE","POLR1B","POLR1C","POLR1D","POLR3A","POLR3K","POMGNT1","POMGNT2","POMK","POMT1","POMT2","POR","PORCN","POU3F3","PPFIBP1","PPP1CB","PPP1R12A","PPP1R15B","PRDM13","PRDM16","PRIM1","PRKACA","PRKACB","PRKAR1A","PRKCZ","PRMT7","PROK2","PROKR2","PRPS1","PSMC1","PSMD12","PTCH1","PTCH2","PTDSS1","PTPN11","PTPRF","PWAR1","PWRN1","PYCR1","RAB18","RAB23","RAB3GAP1","RAB3GAP2","RAC1","RAC3","RAD21","RAD51","RAD51C","RAF1","RAPSN","RARB","RASA2","RBM10","RBMY1A1","RECQL4","RERE","RFC2","RFWD3","RIN2","RIPK4","RIPPLY2","RIT1","RLIM","RNF113A","RNF135","RNU4ATAC","ROBO1","ROR2","RORA","RPGRIP1","RPGRIP1L","RPL10","RRAS","RRAS2","RREB1","RSPO2","RTL1","RTTN","RXYLT1","RYR1","SALL1","SAMD9","SATB2","SCAPER","SCLT1","SCYL2","SDCCAG8","SEC23A","SEC24C","SEMA3A","SEMA3E","SETBP1","SETD2","SETD5","SGPL1","SHOC2","SIAH1","SIM1","SIN3A","SIX6","SKI","SLC16A2","SLC18A3","SLC19A2","SLC25A24","SLC26A2","SLC35D1","SLX4","SMAD4","SMARCA2","SMARCA4","SMARCAL1","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SMC1A","SMC3","SMCHD1","SMOC1","SMS","SNORD115-1","SNORD116-1","SNRPN","SOS1","SOS2","SOX10","SOX11","SOX2","SOX3","SOX4","SOX9","SPECC1L","SPEN","SPRED2","SPRY4","SRA1","SRCAP","SRD5A2","SRY","STAC3","STAG1","STAR","STRA6","STS","STT3A","STT3B","STX1A","STXBP1","SUFU","SUZ12","SYNE1","TAC3","TACR3","TAF6","TARS1","TASP1","TBC1D20","TBCE","TBCK","TBL1XR1","TBL2","TBX1","TBX22","TBX3","TCF12","TCF4","TCOF1","TCTN1","TCTN2","TCTN3","TDRD9","TFAP2A","TGDS","THOC2","TIAM1","TINF2","TMEM107","TMEM216","TMEM231","TMEM237","TMEM270","TMEM67","TMEM70","TMEM94","TNRC6B","TOE1","TOGARAM1","TOPORS","TP63","TPM2","TRIM32","TRIP4","TRPM3","TRRAP","TSPY1","TSPYL1","TSR2","TTC5","TTC8","TUBA1A","TUBB","TWIST1","TWIST2","TXNDC15","TXNRD2","UBA1","UBE2A","UBE2T","UBE4B","UBR1","UBR7","UFD1","UQCC2","USP7","USP9Y","VAC14","VAMP7","VANGL1","VPS13B","VPS35L","VPS37D","VPS50","WDPCP","WDR11","WDR35","WDR37","WDR62","WNT3","WNT5A","WNT7A","WNT7B","WT1","WWOX","XPA","XPC","XRCC2","XRCC4","XYLT2","YY1","ZBTB20","ZEB2","ZFPM2","ZMIZ1","ZMYM2","ZNF699","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_TESTICULAR_ATROPHY":{"collection":"C5:HPO","systematicName":"M34491","pmid":"","exactSource":"HP:0000029","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000029","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TESTICULAR_ATROPHY","geneSymbols":["ANOS1","AR","BMP2","BMP6","DMPK","FGD1","FSHB","HFE","HPRT1","NHP2","POLG","SMS","TEX11","TP53","WFS1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_EPIDIDYMITIS":{"collection":"C5:HPO","systematicName":"M45391","pmid":"","exactSource":"HP:0000031","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000031","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EPIDIDYMITIS","geneSymbols":["BTK","IGHG2","IGKC","PSMB8","UNG"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_AMBIGUOUS_GENITALIA_MALE":{"collection":"C5:HPO","systematicName":"M34492","pmid":"","exactSource":"HP:0000033","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000033","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AMBIGUOUS_GENITALIA_MALE","geneSymbols":["CYB5A","CYP11A1","CYP17A1","DHCR24","HSD3B2","MKS1","SC5D","SRD5A2","SRY","TBX15","TSPYL1","WT1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYDROCELE_TESTIS":{"collection":"C5:HPO","systematicName":"M34493","pmid":"","exactSource":"HP:0000034","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000034","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYDROCELE_TESTIS","geneSymbols":["ADAMTS3","AKT1","ANGPT2","APC2","ATAD3A","CREBBP","DPH2","EDEM3","EP300","EZH2","FLT4","FOCAD","GJC2","KMT2D","MDFIC","MECOM","MOGS","NAA10","NSD1","PEX11B","PIEZO1","PIGL","PIGN","PIK3CA","PTEN","SETD1A","SETD2","SLC25A10","SOX18","SPECC1L","TBX1","THSD1","VEGFC","ZEB2","ZMYM2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_PENIS_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M34495","pmid":"","exactSource":"HP:0000036","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000036","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PENIS_MORPHOLOGY","geneSymbols":["ABCA4","ABL1","ACTA1","ACTB","ADA2","ADAR","ADAT3","AFF4","AGBL5","AHI1","AHR","AIP","AKT1","ALG12","ALKBH8","ALMS1","ALX4","ANK1","ANKRD11","ANOS1","APC2","AR","ARCN1","ARHGEF18","ARID1A","ARID1B","ARID2","ARL2BP","ARL3","ARL6","ARL6IP6","ARNT2","ARVCF","ARX","ATAD3A","ATP6AP2","ATP6V1A","ATP6V1E1","ATR","ATRX","AXL","B3GALNT2","B3GLCT","B4GAT1","B9D2","BAZ1B","BBIP1","BBS1","BBS10","BBS12","BBS2","BBS4","BBS5","BBS7","BBS9","BCL7B","BCOR","BDNF","BEST1","BICRA","BLTP1","BRAF","BRCA1","BRCA2","BRD4","BRIP1","BUB1B","BUD23","C2CD3","CA4","CAMK2A","CARS1","CASK","CASZ1","CC2D2A","CCDC141","CCDC22","CCDC28B","CCDC8","CDC42","CDC42BPB","CDC45","CDC6","CDCA7","CDH11","CDH2","CDHR1","CDKL5","CDKN1C","CDON","CDT1","CENPT","CEP152","CEP19","CEP290","CEP41","CERKL","CFAP418","CHD4","CHD7","CHRNA3","CHRNG","CILK1","CLIP2","CLMP","CLRN1","CNGA1","CNGB1","COG1","COG5","COL3A1","COL4A1","COLEC10","COLEC11","COMT","COX7B","CPE","CPLX1","CRB1","CREBBP","CRPPA","CRX","CSPP1","CTBP1","CTC1","CTCF","CTU2","CUL4B","CUL7","CUX1","CYB5A","CYP11A1","CYP11B1","CYP17A1","CYP21A2","DACT1","DAG1","DCAF17","DCC","DCHS1","DCX","DDX6","DHCR7","DHDDS","DHODH","DHX37","DHX38","DIS3L2","DISP1","DKC1","DLL1","DLL3","DMRT3","DMXL2","DNAJC19","DNAJC30","DPF2","DPP9","DPYSL5","DTYMK","DUSP6","DVL1","DVL3","DYNC2H1","DYNC2I1","DYNC2I2","DYNC2LI1","DYRK1A","EBF3","ECE1","EED","EFNB1","EHMT1","EIF2S3","EIF4H","ELN","EP300","EPG5","ERCC2","ERCC4","ERCC6","ERCC8","ERMARD","ESCO2","EVC","EVC2","EXT2","EYS","EZH2","FAM111A","FAM161A","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FAT4","FBXL4","FDFT1","FERMT1","FEZF1","FGF17","FGF8","FGFR1","FGFR2","FGFRL1","FIG4","FKBP6","FKRP","FKTN","FLNA","FLRT3","FOCAD","FOXC1","FOXF1","FOXH1","FRAS1","FREM2","FSCN2","FZD2","GABRD","GAS1","GATA1","GATA4","GATAD2B","GH1","GHR","GLI1","GLI2","GLI3","GLYCTK","GMNN","GMPPB","GNA11","GNAO1","GNB2","GNRH1","GNRHR","GP1BB","GPC3","GPC4","GPR101","GPR161","GRB10","GRIA3","GRIN1","GRIP1","GRM7","GTF2I","GTF2IRD1","GTF2IRD2","GUCA1B","H4C11","H4C9","HBA1","HBA2","HCCS","HDAC8","HEATR3","HEPACAM","HERC1","HERC2","HES7","HESX1","HGSNAT","HID1","HIRA","HMGA2","HNF1B","HNRNPH1","HNRNPR","HOXA13","HOXD13","HS6ST1","HSD3B2","HSPG2","HUWE1","HYLS1","IDH3A","IDH3B","IFIH1","IFT140","IFT172","IFT27","IFT74","IFT80","IFT88","IGF2","IL17RD","IMPDH1","IMPG1","IMPG2","INPP5E","INSR","INTU","ISL1","JMJD1C","KANSL1","KAT5","KAT6B","KATNIP","KCNA1","KCNAB2","KCNH1","KDM1A","KDM3B","KDM5B","KDM5C","KDM6A","KIAA0586","KIAA0753","KIAA1549","KIF7","KIFBP","KISS1","KISS1R","KIZ","KLF1","KLHL15","KLHL40","KLHL41","KLHL7","KLLN","KMT2D","KRAS","KRT5","LAMA5","LARGE1","LEP","LETM1","LFNG","LHB","LHCGR","LHX4","LIG4","LIMK1","LMNA","LMNB2","LMOD3","LMX1B","LRAT","LRPPRC","LSM11","LSS","LUZP1","LZTFL1","MAB21L2","MAD2L2","MADD","MAGEL2","MAK","MAMLD1","MAP2K1","MAP3K1","MAPRE2","MBD5","MBTPS2","MCTP2","MECP2","MED12","MED12L","MED25","MEGF8","MERTK","MESP2","METTL27","MID1","MINPP1","MKKS","MKRN3","MKS1","MLXIPL","MMP23B","MNX1","MTM1","MTOR","MYH3","MYMK","MYMX","MYRF","NAA10","NCF1","NDNF","NDUFA6","NDUFA8","NDUFB11","NDUFB7","NDUFS4","NEB","NEK1","NEK2","NELFA","NEUROD2","NHLH2","NHP2","NIPBL","NKX2-1","NODAL","NOP10","NOTCH2","NPAP1","NPHP1","NPM1","NR0B1","NR2E3","NR5A1","NRL","NSD1","NSD2","NSMF","NSUN2","NXN","OBSL1","OFD1","OGT","OPHN1","ORC1","ORC4","ORC6","OTUD5","OTX2","PAFAH1B1","PAICS","PALB2","PARN","PAX6","PBX1","PCARE","PCNT","PDE4D","PDE6A","PDE6B","PDE6G","PDPN","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PHF21A","PHF6","PIEZO2","PIGA","PIGG","PIGN","PIGP","PIGQ","PIK3CA","PITX2","PLAG1","PNKP","PNPLA6","POFUT1","POGLUT1","POLE","POLR1B","POLR1C","POLR1D","POLR3A","POMGNT1","POMGNT2","POMK","POMT1","POMT2","POR","PPP1R12A","PQBP1","PRCD","PRDM13","PRDM16","PRKACA","PRKACB","PRKCZ","PRKDC","PROK2","PROKR2","PROM1","PRPF3","PRPF31","PRPF4","PRPF6","PRPF8","PRPH2","PRPS1","PRRX1","PSENEN","PSMC1","PSMD12","PSPH","PTCH1","PTDSS1","PTEN","PTPN11","PTPRF","PUF60","PWAR1","PWRN1","RAB18","RAB3GAP1","RAB3GAP2","RAC1","RAD21","RAD51","RAD51C","RAF1","RBBP8","RBP3","RDH12","REEP6","RERE","RFC2","RFWD3","RGR","RHO","RIPK4","RIPPLY2","RLBP1","RLIM","RNASEH2A","RNASEH2B","RNASEH2C","RNF113A","RNU12","RNU4ATAC","RNU7-1","ROBO1","ROM1","ROR2","RP1","RP1L1","RP2","RP9","RPE65","RPGR","RPL10","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS7","RREB1","RSPO1","RSPO2","RTEL1","RTTN","RXYLT1","RYR1","SAG","SALL1","SAMD9","SAMHD1","SATB2","SC5D","SCAPER","SCLT1","SCN1B","SCN2A","SCUBE3","SDCCAG8","SDHB","SDHC","SDHD","SEC23B","SEC24C","SEMA3A","SEMA3E","SEMA4A","SETBP1","SETD2","SETD5","SGPL1","SHH","SIAH1","SIK1","SIM1","SIN3A","SIX3","SIX6","SKI","SKIC3","SLC25A10","SLC25A22","SLC25A24","SLC29A3","SLC31A1","SLC32A1","SLC7A14","SLX4","SMAD4","SMARCA2","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SMC1A","SMC3","SMCHD1","SMG8","SMO","SMS","SNORD115-1","SNORD116-1","SNRNP200","SOX10","SOX11","SOX2","SOX3","SOX4","SOX9","SPATA7","SPEN","SPRED1","SPRY4","SPTBN1","SRA1","SRCAP","SRD5A2","SRY","SSR4","STAR","STT3A","STT3B","STX1A","STXBP1","SUCLG1","SUFU","SUZ12","SYNGAP1","TAC3","TACR3","TAPT1","TBC1D20","TBCE","TBL1XR1","TBL2","TBX1","TBX22","TBX3","TCF12","TCF4","TCOF1","TDGF1","TERC","TERT","TFAP2A","TGIF1","THOC2","THOC6","TINF2","TMEM270","TMEM63A","TMEM70","TMEM94","TOE1","TOGARAM1","TONSL","TOPORS","TP63","TREX1","TRIM32","TRIM8","TRPM3","TRRAP","TSPYL1","TSR2","TTC8","TUB","TUBB","TULP1","TWIST2","TYMS","UBA1","UBE2A","UBE2T","UBE4B","UBR1","UBR7","UFD1","USB1","USF3","USH2A","USP7","USP9X","VAC14","VAMP7","VPS35L","VPS37D","WASHC5","WDPCP","WDR11","WDR35","WNT4","WNT5A","WNT7A","WRAP53","WT1","WWOX","XRCC2","XRCC4","YWHAE","ZEB2","ZFPM2","ZIC2","ZMIZ1","ZMPSTE24","ZMYM2","ZNF408","ZNF513","ZNF699","ZPR1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MALE_PSEUDOHERMAPHRODITISM":{"collection":"C5:HPO","systematicName":"M34496","pmid":"","exactSource":"HP:0000037","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000037","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MALE_PSEUDOHERMAPHRODITISM","geneSymbols":["AKR1C2","AKR1C4","AMH","AMHR2","AR","ATRX","B9D1","B9D2","CBX2","CC2D2A","CEP290","COX7B","CSPP1","CYB5A","CYP11A1","CYP17A1","DHH","DHX37","DMRT1","HCCS","HHAT","HSD17B3","HSD3B2","MAP3K1","MKS1","MNX1","NDUFB11","NR0B1","NR5A1","RPGRIP1","RPGRIP1L","SOX9","SRY","TCTN1","TCTN2","TCTN3","TMEM107","TMEM216","TMEM231","TMEM237","TMEM67","TXNDC15","WT1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_EPISPADIAS":{"collection":"C5:HPO","systematicName":"M34497","pmid":"","exactSource":"HP:0000039","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000039","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EPISPADIAS","geneSymbols":["ANKRD11","C2CD3","CDC45","CDC6","CDT1","COX7B","DVL1","DVL3","DYNC2LI1","EVC","EVC2","FZD2","GLI1","GMNN","HCCS","ISL1","KRAS","NDUFB11","ORC1","ORC4","ORC6","PIEZO2","PRKACA","PRKACB","PTDSS1","SMAD4","SRY","TP63","WNT5A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LONG_PENIS":{"collection":"C5:HPO","systematicName":"M34498","pmid":"","exactSource":"HP:0000040","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000040","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LONG_PENIS","geneSymbols":["AIP","AKT1","CYP11B1","ESCO2","FGFR1","GPR101","INSR","KCNH1","LHCGR","POLR3A","PTEN"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CHORDEE":{"collection":"C5:HPO","systematicName":"M34499","pmid":"","exactSource":"HP:0000041","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000041","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHORDEE","geneSymbols":["CARS1","CDC42BPB","COX7B","DYRK1A","FGFR1","HCCS","HOXA13","KDM1A","MAP3K1","NDUFB11","POR","PPP1R12A","PTDSS1","SRY","ZEB2","ZMYM2","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPOGONADOTROPIC_HYPOGONADISM":{"collection":"C5:HPO","systematicName":"M34500","pmid":"","exactSource":"HP:0000044","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000044","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOGONADOTROPIC_HYPOGONADISM","geneSymbols":["AIP","AKT1","ANK1","ANOS1","AXL","BAP1","BAZ1B","BCL7B","BMP2","BMP6","BRAF","BUD23","CBL","CBX2","CCDC141","CDH23","CHD4","CHD7","CLIP2","COL25A1","CPE","CTDP1","CTNNB1","DCAF17","DCC","DHH","DHX37","DMRT1","DMXL2","DNAJC30","DNAL4","DUSP6","EIF4H","ELN","FEZF1","FGF17","FGF8","FGFR1","FKBP6","FLRT3","FOXA2","FSHB","GJB2","GLI2","GNRH1","GNRHR","GPR101","GTF2I","GTF2IRD1","GTF2IRD2","HDAC8","HERC2","HESX1","HFE","HJV","HS6ST1","HSD17B3","IL17RD","KIF21A","KISS1","KISS1R","KRAS","LAS1L","LGR4","LHB","LHX3","LHX4","LIG3","LIMK1","LZTR1","MAGEL2","MAP3K1","MEN1","METTL27","MKRN3","MLXIPL","MRAS","MT-CO1","MT-CO2","MT-CO3","MT-ND1","MT-ND4","MT-ND5","MT-ND6","MT-TF","MT-TH","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TW","NCF1","NDN","NDNF","NF2","NHLH2","NPAP1","NR0B1","NR5A1","NRAS","NSMF","NTN1","OCA2","OTX2","PCSK1","PDGFB","PHOX2A","PIK3CA","PLXND1","PMM2","PNPLA6","POLA1","POLG","POLR3A","POLR3B","POLR3K","POU1F1","PRDM13","PROK2","PROKR2","PROP1","PTCH1","PTCH2","PTPN11","PWAR1","PWRN1","RAB3GAP1","RAB3GAP2","RAD51","RAF1","RASA2","RBM28","REV3L","RFC2","RIT1","RNF216","RNU4ATAC","RRAS","RRAS2","RRM2B","SEMA3A","SEMA3E","SIM1","SIX6","SMARCB1","SMARCE1","SMCHD1","SMO","SNORD115-1","SNORD116-1","SNRPN","SOS1","SOS2","SOX10","SOX2","SOX3","SOX9","SPRED2","SPRY4","SRA1","SRY","STX1A","SUFU","TAC3","TACR3","TBL2","TCF12","TERT","TFR2","TMEM270","TP63","TRAF7","TUBA1A","TUBB2B","TUBB3","TYMP","VPS37D","WDR11","WT1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_SCROTUM":{"collection":"C5:HPO","systematicName":"M34501","pmid":"","exactSource":"HP:0000045","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000045","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_SCROTUM","geneSymbols":["ACTB","AKT1","ALG12","ALX4","ANOS1","AR","ARCN1","ATRX","BLTP1","BMP4","BUB1B","CDH11","CDKN1C","CHD7","CHRNG","CILK1","COLEC10","CREBBP","CYB5A","CYP17A1","DACT1","DHCR7","DHX37","DMRT3","DYRK1A","EFNB1","EP300","ERCC2","FARSB","FAT4","FGD1","FGFR2","FLI1","FRAS1","FREM2","FZD2","GATA4","GLI3","GRIP1","HERC2","HMGA2","HNF1B","HOXA13","HOXD13","HSD3B2","IER3IP1","IGF2","IRF6","KAT6B","KIFBP","KRT5","LAMA5","LHX1","LMX1B","MAB21L1","MAGEL2","MAMLD1","MAP3K1","MAPRE2","MED12","MEGF8","METTL23","MID1","MINPP1","MKRN3","MNX1","MTM1","MYH3","MYRF","NDN","NECTIN1","NEXMIF","NPAP1","NR0B1","NR5A1","OCA2","OPHN1","ORC1","ORC6","PHF6","PLAG1","PNPLA6","POFUT1","POGLUT1","POLR1B","POLR1C","POLR1D","POR","PSENEN","PSMD12","PTEN","PTRH2","PWAR1","PWRN1","RAB18","RAB3GAP2","RFX7","RYR1","SALL1","SAMD9","SEMA3E","SETBP1","SIM1","SLC25A24","SNORD115-1","SNORD116-1","SNRPN","SOX9","SPECC1L","SPTBN1","SRCAP","SRD5A2","SRY","STT3A","STT3B","STXBP1","TBC1D20","TBX3","TBX4","TCOF1","TMCO1","TOE1","TRRAP","TSPYL1","TUBB","TWIST2","UPB1","VAMP7","WNT7A","WT1","WWOX","ZEB2","ZFPM2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SMALL_SCROTUM":{"collection":"C5:HPO","systematicName":"M34502","pmid":"","exactSource":"HP:0000046","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000046","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SMALL_SCROTUM","geneSymbols":["ALG12","ALX4","ANOS1","ARCN1","ATRX","BLTP1","BMP4","CHRNG","CILK1","DHCR7","ERCC2","FARSB","FRAS1","FREM2","GLI3","GRIP1","HERC2","IER3IP1","IRF6","KAT6B","LMX1B","MAGEL2","MAPRE2","MED12","MKRN3","MYH3","NDN","NECTIN1","NPAP1","NR5A1","OCA2","OPHN1","ORC6","PHF6","PNPLA6","POLR1B","POLR1C","POLR1D","POR","PWAR1","PWRN1","RAB18","RAB3GAP2","RFX7","RYR1","SETBP1","SIM1","SLC25A24","SNORD115-1","SNORD116-1","SNRPN","SOX9","SRD5A2","SRY","STT3A","STT3B","STXBP1","TBC1D20","TBX3","TCOF1","TRRAP","TSPYL1","TUBB","WNT7A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BIFID_SCROTUM":{"collection":"C5:HPO","systematicName":"M34503","pmid":"","exactSource":"HP:0000048","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000048","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BIFID_SCROTUM","geneSymbols":["AR","BUB1B","CDH11","CDKN1C","CHD7","COLEC10","CYB5A","CYP17A1","DACT1","DHCR7","FAT4","FGFR2","FZD2","HMGA2","HOXA13","HOXD13","HSD3B2","IGF2","IRF6","KIFBP","MAMLD1","MID1","MNX1","MTM1","MYRF","NR5A1","PLAG1","POR","SALL1","SEMA3E","SOX9","SPTBN1","SRD5A2","SRY","UPB1","ZEB2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SHAWL_SCROTUM":{"collection":"C5:HPO","systematicName":"M34504","pmid":"","exactSource":"HP:0000049","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000049","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHAWL_SCROTUM","geneSymbols":["ATRX","CREBBP","DYRK1A","EFNB1","EP300","FGD1","HNF1B","LAMA5","LHX1","MED12","MEGF8","METTL23","MID1","NEXMIF","ORC1","PSMD12","PTRH2","SAMD9","SPECC1L","TBX3","TBX4","TMCO1","TWIST2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PERINEAL_HYPOSPADIAS":{"collection":"C5:HPO","systematicName":"M47025","pmid":"","exactSource":"HP:0000051","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000051","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERINEAL_HYPOSPADIAS","geneSymbols":["AR","DNAJC19","GATA4","HSD3B2","SRD5A2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MACROORCHIDISM":{"collection":"C5:HPO","systematicName":"M34506","pmid":"","exactSource":"HP:0000053","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000053","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MACROORCHIDISM","geneSymbols":["AGA","AKT1","ARX","CLIC2","CYP19A1","FMR1","GNAS","H4C5","IL1RAPL1","LHCGR","MECP2","MED12","NF1","PDE11A","PRKAR1A","PTEN","RBMX","TSHB","UPF3B","ZDHHC9"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MICROPENIS":{"collection":"C5:HPO","systematicName":"M34507","pmid":"","exactSource":"HP:0000054","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000054","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MICROPENIS","geneSymbols":["ACTA1","ACTB","ADAR","ADAT3","ALG12","ALKBH8","ALMS1","ALX4","ANOS1","AR","ARCN1","ARL6","ARX","ATAD3A","ATP6V1A","ATP6V1E1","ATRX","AXL","B4GAT1","B9D2","BBS1","BBS5","BLTP1","BUB1B","C2CD3","CAMK2A","CASK","CCDC141","CCDC28B","CDC42BPB","CDC45","CDC6","CDH11","CDH2","CDKL5","CDKN1C","CENPT","CEP41","CHD4","CHD7","COG5","COLEC10","COX7B","CPE","CTU2","CUL4B","CYB5A","CYP17A1","DCAF17","DCC","DCX","DDX6","DHCR7","DHDDS","DHODH","DHX37","DMRT3","DMXL2","DPYSL5","DTYMK","DUSP6","DVL1","DVL3","DYNC2H1","DYRK1A","EBF3","ECE1","EHMT1","EIF2S3","ELN","ERCC2","ERCC6","ERCC8","EXT2","FAM111A","FANCB","FANCD2","FANCL","FAT4","FEZF1","FGF17","FGF8","FGFR1","FIG4","FKRP","FLRT3","FRAS1","FZD2","GATA4","GH1","GLI2","GLI3","GLYCTK","GMPPB","GNAO1","GNB2","GNRH1","GNRHR","GRIA3","GRIN1","GRM7","H4C9","HCCS","HDAC8","HERC1","HERC2","HESX1","HID1","HNRNPR","HOXA13","HS6ST1","HSD3B2","HUWE1","IFIH1","IFT172","IL17RD","INPP5E","INTU","KAT6B","KATNIP","KCNA1","KDM5C","KDM6A","KIAA0586","KIAA0753","KIF7","KISS1","KISS1R","KLF1","KLHL15","KLHL40","KLHL41","KMT2D","LAMA5","LARGE1","LEP","LHB","LIG4","LMNB2","LMOD3","LMX1B","LSM11","LSS","LZTFL1","MADD","MAGEL2","MAMLD1","MAP3K1","MBD5","MCTP2","MED12","MEGF8","MID1","MINPP1","MKRN3","MLXIPL","MTM1","MYRF","NDNF","NDUFB11","NEB","NEK1","NEUROD2","NHLH2","NPAP1","NR0B1","NR5A1","NSMF","OPHN1","ORC1","ORC6","OTUD5","OTX2","PBX1","PHF21A","PHF6","PIEZO2","PIGA","PIGP","PIGQ","PNKP","PNPLA6","POLE","POMT1","POMT2","POR","PPP1R12A","PRDM13","PRKDC","PROK2","PROKR2","PSMC1","PSMD12","PTPN11","PWAR1","PWRN1","RAB18","RAB3GAP2","RIPK4","RLIM","RNASEH2A","RNASEH2B","RNASEH2C","RNF113A","RNU4ATAC","RNU7-1","ROR2","RSPO2","RYR1","SAMHD1","SATB2","SCN1B","SCN2A","SEMA3A","SEMA3E","SETBP1","SGPL1","SIK1","SIM1","SIX6","SLC25A22","SLC25A24","SLC29A3","SLC32A1","SMCHD1","SMO","SNORD115-1","SNORD116-1","SOX10","SOX2","SOX9","SPRY4","SPTBN1","SRA1","SRD5A2","SRY","STT3A","STT3B","STXBP1","TAC3","TACR3","TAPT1","TBC1D20","TBCE","TBL1XR1","TBX3","TCF12","TCF4","THOC2","THOC6","TOE1","TOGARAM1","TP63","TREX1","TRIM8","TRPM3","TWIST2","UBA1","UBE2A","UBR1","UBR7","USP7","VAC14","VAMP7","WDR11","WNT5A","WT1","WWOX","XRCC4","ZEB2","ZFPM2","ZPR1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_FEMALE_EXTERNAL_GENITALIA":{"collection":"C5:HPO","systematicName":"M34508","pmid":"","exactSource":"HP:0000055","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000055","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_FEMALE_EXTERNAL_GENITALIA","geneSymbols":["ACTB","AGPAT2","AR","ARID1B","ATIC","ATR","B3GLCT","BRD4","BSCL2","CASZ1","CAV1","CAVIN1","CBX2","CCNQ","CD96","CDC45","CDC6","CDT1","CEP152","CHD7","CHRNG","COX7B","CTCF","CXCR4","CYP11A1","CYP11B1","CYP19A1","DHCR24","DHCR7","DHH","DHX37","DMRT3","DVL1","DVL3","ECEL1","ESCO2","ESR2","FDXR","FGFR2","FIG4","FOS","FRAS1","FREM2","FZD2","GABRD","GAD1","GATA4","GMNN","GRIP1","HCCS","HDAC8","HERC2","HNRNPR","HSD3B2","HSPG2","HYMAI","INSR","IRF6","ISL1","KAT6B","KCNAB2","LIG4","LIPE","LMNA","LUZP1","MAGEL2","MAP3K1","MED25","MINPP1","MKRN3","MKS1","MMP23B","MOGS","MYH3","NDN","NDUFB11","NIPBL","NPAP1","NR0B1","NR3C1","NR5A1","NSUN2","NXN","OCA2","ORC1","ORC4","ORC6","PCNT","PDE4D","PDPN","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PLAGL1","PMM2","POC1A","POR","PORCN","PPARG","PPP1R12A","PPP2R3C","PRDM16","PRKAR1A","PRKCZ","PWAR1","PWRN1","RAB18","RAB3GAP1","RAB3GAP2","RAC3","RAD21","RERE","RIPK4","ROR2","RSPO1","SEMA3E","SETBP1","SIM1","SKI","SLC25A24","SMARCA2","SMC1A","SMC3","SMCHD1","SNORD115-1","SNORD116-1","SNRPN","SOX9","SPECC1L","SPEN","SRY","TALDO1","TBC1D20","TBX15","TNXB","TOE1","TP63","TRAIP","TWIST2","UBE3B","UBE4B","UBR1","VAC14","VAMP7","WNT5A","WT1","WWOX","ZFPM2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_CLITORIS":{"collection":"C5:HPO","systematicName":"M34509","pmid":"","exactSource":"HP:0000056","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000056","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_CLITORIS","geneSymbols":["AGPAT2","AR","ARID1B","ATIC","ATR","B3GLCT","BSCL2","CAV1","CAVIN1","CCNQ","CD96","CDC45","CDC6","CDT1","CEP152","COX7B","CYP11A1","CYP11B1","DHCR7","DHX37","DMRT3","DVL1","DVL3","ESCO2","FDXR","FGFR2","FIG4","FOS","FRAS1","FZD2","GAD1","GATA4","GMNN","HCCS","HERC2","HSD3B2","INSR","ISL1","KAT6B","MAGEL2","MAP3K1","MED25","MINPP1","MKRN3","NDN","NDUFB11","NPAP1","NR0B1","NR5A1","OCA2","ORC1","ORC4","ORC6","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","POC1A","POR","PORCN","PPARG","PPP1R12A","PPP2R3C","PWAR1","PWRN1","RAB18","RAB3GAP1","RAB3GAP2","ROR2","RSPO1","SIM1","SNORD115-1","SNORD116-1","SNRPN","SOX9","SRY","TALDO1","TBC1D20","TOE1","TP63","TRAIP","UBE3B","UBR1","VAC14","VAMP7","WNT5A","WT1","WWOX","ZFPM2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_LABIA_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M34510","pmid":"","exactSource":"HP:0000058","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000058","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LABIA_MORPHOLOGY","geneSymbols":["ACTB","AGPAT2","AR","ATIC","B3GLCT","BRD4","BSCL2","CCNQ","CDC45","CDC6","CDT1","CHD7","CHRNG","CTCF","DHX37","DMRT3","DVL1","DVL3","ECEL1","ESCO2","ESR2","FGFR2","FIG4","FZD2","GAD1","GATA4","GMNN","HDAC8","HERC2","HNRNPR","HSD3B2","HYMAI","INSR","IRF6","KAT6B","LIPE","LMNA","MAGEL2","MAP3K1","MKRN3","MYH3","NDN","NIPBL","NPAP1","NR0B1","NR5A1","OCA2","ORC1","ORC4","ORC6","PLAGL1","PMM2","POR","PORCN","PPP2R3C","PWAR1","PWRN1","RAB18","RAB3GAP1","RAB3GAP2","RAD21","RIPK4","ROR2","SEMA3E","SETBP1","SIM1","SLC25A24","SMARCA2","SMC1A","SMC3","SMCHD1","SNORD115-1","SNORD116-1","SNRPN","SOX9","SRY","TBC1D20","TP63","TWIST2","UBE3B","VAC14","VAMP7","WNT5A","WT1","WWOX","ZFPM2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPOPLASTIC_LABIA_MAJORA":{"collection":"C5:HPO","systematicName":"M41213","pmid":"","exactSource":"HP:0000059","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000059","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASTIC_LABIA_MAJORA","geneSymbols":["B3GLCT","BRD4","CDC45","CDC6","CDT1","CTCF","DVL1","DVL3","ECEL1","ESR2","FGFR2","FIG4","FZD2","GAD1","GMNN","HDAC8","IRF6","NIPBL","ORC1","ORC4","ORC6","POR","PPP2R3C","RAB3GAP2","RAD21","RIPK4","ROR2","SETBP1","SLC25A24","SMC1A","SMC3","SMCHD1","TP63","TWIST2","UBE3B","VAC14","WNT5A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_AMBIGUOUS_GENITALIA_FEMALE":{"collection":"C5:HPO","systematicName":"M34512","pmid":"","exactSource":"HP:0000061","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000061","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AMBIGUOUS_GENITALIA_FEMALE","geneSymbols":["CYP11B1","CYP19A1","DHCR24","HSD3B2","MKS1","SRY","TBX15","TNXB","WT1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_AMBIGUOUS_GENITALIA":{"collection":"C5:HPO","systematicName":"M34513","pmid":"","exactSource":"HP:0000062","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000062","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AMBIGUOUS_GENITALIA","geneSymbols":["AKR1C2","AKR1C4","AR","ARX","ATP6V1B2","ATRX","B9D1","B9D2","BDNF","BMP15","BNC1","BUB1","BUB1B","BUB3","CC2D2A","CDON","CEP120","CEP290","CEP41","CEP57","CHD4","CILK1","CKAP2L","COX7B","CSPP1","CTU2","CYB5A","CYP11A1","CYP11B1","CYP17A1","CYP19A1","DHCR24","DHCR7","DHX37","DISP1","DLL1","DMRT3","DYNC2H1","DYNC2I1","DYNC2I2","FDXR","FGF8","FGFR1","FOXH1","FRAS1","FREM2","FSHR","FUZ","FZD2","GAS1","GATA4","GLI2","GLI3","GRIP1","HCCS","HOXD13","HSD17B3","HSD3B2","IFT80","IFT81","IGF2","IRF6","MAP3K1","MINPP1","MKS1","MRPS22","MSH4","MYRF","NDUFB11","NEK1","NODAL","NR0B1","NR2F2","NR3C1","NR5A1","NUP107","PAX6","PBX1","POLR3H","POR","PSMC3IP","PTCH1","RIPK4","RPGRIP1","RPGRIP1L","RSPO1","SC5D","SHH","SIX3","SOX3","SOX9","SPIDR","SRD5A2","SRY","SUFU","TBC1D24","TBX15","TCTN1","TCTN2","TCTN3","TDGF1","TGIF1","TMEM107","TMEM216","TMEM231","TMEM237","TMEM67","TNXB","TOE1","TRAIP","TRIP13","TSPYL1","TWIST2","TXNDC15","VAMP7","VANGL1","WDR35","WNT4","WT1","WWOX","ZFPM2","ZIC2","ZNF699","ZSWIM7"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPOPLASTIC_LABIA_MINORA":{"collection":"C5:HPO","systematicName":"M34515","pmid":"","exactSource":"HP:0000064","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000064","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASTIC_LABIA_MINORA","geneSymbols":["ACTB","CDC45","CDC6","CDT1","DVL1","DVL3","FZD2","GAD1","GMNN","HERC2","MAGEL2","MKRN3","NDN","NPAP1","OCA2","ORC1","ORC4","ORC6","PWAR1","PWRN1","RAB18","RAB3GAP1","RAB3GAP2","SETBP1","SIM1","SNORD115-1","SNORD116-1","SNRPN","TBC1D20","TWIST2","WNT5A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LABIAL_HYPERTROPHY":{"collection":"C5:HPO","systematicName":"M34516","pmid":"","exactSource":"HP:0000065","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000065","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LABIAL_HYPERTROPHY","geneSymbols":["AGPAT2","BSCL2","ESCO2","HYMAI","INSR","KAT6B","LMNA","PLAGL1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_URETHRAL_ATRESIA":{"collection":"C5:HPO","systematicName":"M34517","pmid":"","exactSource":"HP:0000068","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000068","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_URETHRAL_ATRESIA","geneSymbols":["B9D1","B9D2","CC2D2A","CEP290","CSPP1","FANCB","FRAS1","FREM2","GRIP1","MKS1","RPGRIP1","RPGRIP1L","TCTN1","TCTN2","TCTN3","TMEM107","TMEM216","TMEM231","TMEM237","TMEM67","TP63","TXNDC15","WNT3","ZIC3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_URETER":{"collection":"C5:HPO","systematicName":"M34518","pmid":"","exactSource":"HP:0000069","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000069","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_URETER","geneSymbols":["ACTB","ACTG1","ACTG2","AFF4","ALG9","ANKLE2","APC2","APRT","AQP2","ARID1B","ARNT2","ARVCF","ARX","ASPM","ASXL1","ATP7A","ATRX","AVPR2","AXIN1","B3GLCT","B9D1","B9D2","BAZ1B","BBS12","BCL7B","BCOR","BICC1","BNC2","BPTF","BRCA1","BRCA2","BRD4","BRF1","BRIP1","BUD23","CASK","CC2D2A","CCBE1","CCNQ","CDC45","CDH11","CDK5RAP2","CDK6","CDKL5","CDKN1C","CENPE","CENPJ","CEP135","CEP152","CEP290","CEP55","CEP63","CHD4","CHD7","CHRM3","CHRNA3","CIT","CLIP2","COL18A1","COMT","COPB2","CPT2","CREBBP","CSPP1","CTLA4","DACT1","DCDC2","DDB1","DDX6","DEAF1","DHCR7","DLL3","DMXL2","DNAJC30","DNMT3A","DSTYK","DVL3","DYNC2LI1","EBF3","EDNRA","EFEMP2","EHMT1","EIF4H","ELN","EP300","EPG5","ERCC4","ERCC6","ERCC8","EVC","EVC2","EXT1","EYA1","FAM20C","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FBLN5","FGF10","FGFR2","FGFR3","FIBP","FKBP6","FLII","FLNA","FOXF1","FREM2","FUZ","GATA3","GATA6","GLI1","GLI3","GNAO1","GNB1","GP1BB","GPC3","GPC4","GREB1L","GRHPR","GRIN1","GRIP1","GRM7","GTF2I","GTF2IRD1","GTF2IRD2","H4C9","HAAO","HDAC8","HES7","HIRA","HLA-DPA1","HLA-DPB1","HNF1B","HNRNPK","HNRNPU","HOXA13","HPSE2","HS2ST1","HSPA9","HSPG2","IFT140","IGF2","IQSEC2","ISL1","ITGA6","ITGB4","JAG1","JMJD1C","KANSL1","KAT5","KCNA1","KCNQ1","KCNQ1OT1","KCTD1","KDM6A","KIF14","KIFBP","KMT2C","KMT2D","KNL1","KRAS","LAMA3","LAMB3","LAMC2","LFNG","LHX1","LIMK1","LMNA","LMOD1","LONP1","LRIG2","LTBP1","MAD2L2","MAP3K7","MAPKAPK5","MAPKBP1","MAPRE2","MBTPS2","MCM7","MCPH1","MED12","MESP2","METTL27","METTL5","MFSD2A","MID1","MKKS","MKS1","MLXIPL","MNX1","MYCN","MYH11","MYLK","MYOD1","NAA10","NADSYN1","NCAPD3","NCAPG2","NCF1","NDUFAF3","NECTIN1","NEUROD2","NFIA","NIPBL","NKX2-1","NODAL","NPHP3","NRIP1","NSD1","NUP37","OTUD5","PAK2","PALB2","PAX2","PAX6","PBX1","PEX6","PHC1","PIEZO2","PIGA","PIGL","PIGN","PIGO","PIGP","PIGQ","PIGT","PLD1","PLEC","PLXNA1","PNKP","POLR3A","POR","PORCN","PPP3CA","PRKACA","PRKACB","PRMT7","PRPS1","PRTN3","PSMD12","PTPN22","PUF60","PYCR2","RAB23","RAD21","RAD51","RAD51C","RAI1","RALGAPA1","RARB","RBCK1","RBM8A","RECQL4","RERE","RFC2","RFWD3","RIPK4","RIPPLY2","RNU4ATAC","ROBO2","RPGRIP1","RPGRIP1L","RPL11","RREB1","SALL1","SALL4","SARS1","SASS6","SCN1B","SCN2A","SDHA","SDHAF1","SDHB","SDHD","SEC24C","SEMA3E","SETBP1","SETD2","SF3B2","SH2B1","SHANK3","SIK1","SIX1","SIX5","SLC22A12","SLC25A22","SLC26A1","SLC32A1","SLC35A2","SLC6A17","SLX4","SMC1A","SMC3","SOS1","SOS2","SOX17","SPINT2","SPOP","STAMBP","STIL","STK11","STRA6","STX1A","TAF13","TBL2","TBX1","TBX18","TCTN1","TCTN2","TCTN3","TMEM107","TMEM216","TMEM231","TMEM237","TMEM270","TMEM67","TNXB","TP63","TRAPPC10","TRAPPC14","TRIM8","TRPS1","TRRAP","TXNDC15","UBE2A","UBE2T","UFC1","UFD1","UMPS","UNC45A","VANGL1","VPS37D","WARS1","WDR62","WFS1","WNT7B","XRCC2","YY1","ZEB2","ZMIZ1","ZMPSTE24","ZMYM2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_URETEROCELE":{"collection":"C5:HPO","systematicName":"M34519","pmid":"","exactSource":"HP:0000070","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000070","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_URETEROCELE","geneSymbols":["ARX","CASK","CDKL5","DMXL2","GNAO1","GRIN1","GRM7","HNF1B","ITGA6","ITGB4","KCNA1","LAMA3","LAMB3","LAMC2","LHX1","MAPRE2","NEUROD2","PEX6","PIGP","PIGQ","PLEC","PNKP","SCN1B","SCN2A","SIK1","SLC25A22","SLC32A1","TP63","TRIM8"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_URETERAL_STENOSIS":{"collection":"C5:HPO","systematicName":"M41214","pmid":"","exactSource":"HP:0000071","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000071","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_URETERAL_STENOSIS","geneSymbols":["APC2","BRF1","CDH11","CTLA4","DHCR7","DSTYK","EYA1","FLNA","GNB1","HLA-DPA1","HLA-DPB1","HNF1B","HOXA13","KDM6A","KMT2D","MYOD1","NODAL","NSD1","PIGL","PIGT","PRTN3","PTPN22","SETBP1","SETD2","SF3B2","SIX1","SIX5","SLC26A1","SLC35A2","SOX17","TBX18","YY1","ZMYM2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYDROURETER":{"collection":"C5:HPO","systematicName":"M34520","pmid":"","exactSource":"HP:0000072","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000072","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYDROURETER","geneSymbols":["ACTB","ACTG1","ACTG2","AQP2","ARID1B","AVPR2","BBS12","BCOR","BRCA1","BRCA2","BRIP1","CCNQ","CHRM3","DDB1","DYNC2LI1","EDNRA","ERCC4","ERCC6","ERCC8","EVC","EVC2","FAM20C","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FLNA","FOXF1","GLI1","GLI3","GPC3","GPC4","HPSE2","HS2ST1","LAMA3","LAMB3","LAMC2","LMOD1","LONP1","MAD2L2","MBTPS2","MED12","MKKS","MYH11","MYLK","NAA10","NDUFAF3","PALB2","PIEZO2","PIGN","PIGT","PLD1","PRKACA","PRKACB","RAB23","RAD51","RAD51C","RFWD3","RIPK4","RNU4ATAC","SETBP1","SLX4","SMC3","SOS2","SOX17","TBX18","TP63","UBE2T","WFS1","XRCC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_URETERAL_DUPLICATION":{"collection":"C5:HPO","systematicName":"M34521","pmid":"","exactSource":"HP:0000073","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000073","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_URETERAL_DUPLICATION","geneSymbols":["APC2","AXIN1","B3GLCT","B9D1","B9D2","CC2D2A","CEP290","COL18A1","CPT2","CSPP1","FIBP","FUZ","GATA6","GPC3","GPC4","IFT140","KCTD1","LMNA","MKS1","NCAPG2","NODAL","NSD1","PAK2","PBX1","PIGN","PORCN","PSMD12","RBM8A","RPGRIP1","RPGRIP1L","SETD2","SLC6A17","SOS1","SOX17","SPINT2","TCTN1","TCTN2","TCTN3","TMEM107","TMEM216","TMEM231","TMEM237","TMEM67","TXNDC15","VANGL1","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_URETEROPELVIC_JUNCTION_OBSTRUCTION":{"collection":"C5:HPO","systematicName":"M34522","pmid":"","exactSource":"HP:0000074","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000074","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_URETEROPELVIC_JUNCTION_OBSTRUCTION","geneSymbols":["APC2","BRF1","DHCR7","DSTYK","EYA1","GNB1","HNF1B","HOXA13","KDM6A","KMT2D","MYOD1","NSD1","PIGL","SETD2","SF3B2","SIX1","SIX5","SLC26A1","SLC35A2","SOX17","TBX18","YY1","ZMYM2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RENAL_DUPLICATION":{"collection":"C5:HPO","systematicName":"M34523","pmid":"","exactSource":"HP:0000075","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000075","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RENAL_DUPLICATION","geneSymbols":["B3GLCT","BAZ1B","BCL7B","BUD23","CLIP2","COL18A1","DNAJC30","DVL1","EIF4H","ELN","FANCD2","FKBP6","FOXC2","GP1BA","GP1BB","GP9","GPC3","GPC4","GTF2I","GTF2IRD1","GTF2IRD2","ITGA6","ITGB4","KANSL1","KCTD1","LIMK1","METTL27","MLXIPL","NCF1","PLEC","RFC2","ROR2","RPS26","SLC6A17","SPINT2","STX1A","TBL2","TMEM270","VPS37D","WNT5A","ZEB2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_GENITAL_SYSTEM":{"collection":"C5:HPO","systematicName":"M47026","pmid":"","exactSource":"HP:0000078","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000078","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_GENITAL_SYSTEM","geneSymbols":["AAGAB","AARS1","AARS2","ABCA4","ABCD1","ABCD4","ABL1","ACTA1","ACTA2","ACTB","ACTG2","ACTL9","ADA2","ADAMTS3","ADAR","ADARB1","ADAT3","ADGRG2","ADH5","ADNP","AEBP1","AFF4","AGA","AGBL5","AGGF1","AGK","AGPAT2","AHI1","AHR","AHSG","AIP","AIRE","AK7","AKAP3","AKR1C2","AKR1C4","AKT1","AKT2","ALDH18A1","ALDH1A2","ALG1","ALG12","ALG5","ALG8","ALG9","ALKBH8","ALMS1","ALOX12B","ALOXE3","ALX4","AMACR","AMH","AMHR2","ANAPC1","ANAPC7","ANGPT2","ANK1","ANKLE2","ANKRD11","ANOS1","ANTXR1","ANTXR2","AP1S2","APC","APC2","AR","ARCN1","ARHGAP31","ARHGEF18","ARID1A","ARID1B","ARID2","ARL2BP","ARL3","ARL6","ARL6IP6","ARMC2","ARMC5","ARNT2","ARSL","ARVCF","ARX","ASH1L","ASTL","ASXL3","ATAD3A","ATIC","ATM","ATN1","ATP5F1A","ATP5F1D","ATP5F1E","ATP5MK","ATP6AP2","ATP6V0A2","ATP6V1A","ATP6V1B2","ATP6V1E1","ATP7B","ATPAF1","ATPAF2","ATR","ATRX","ATXN8OS","AURKA","AURKC","AUTS2","AXIN1","AXIN2","AXL","B3GALNT2","B3GLCT","B4GALNT1","B4GALT7","B4GAT1","B9D1","B9D2","BAP1","BARD1","BAX","BAZ1B","BBIP1","BBS1","BBS10","BBS12","BBS2","BBS4","BBS5","BBS7","BBS9","BCL10","BCL7B","BCOR","BCS1L","BDNF","BEST1","BICC1","BICRA","BIN1","BLM","BLOC1S3","BLOC1S5","BLTP1","BMP15","BMP2","BMP4","BMP6","BMPR1A","BMPR1B","BNC1","BPTF","BPY2","BRAF","BRCA1","BRCA2","BRCC3","BRD4","BRDT","BRF1","BRIP1","BRWD3","BSCL2","BTG4","BTK","BTNL2","BUB1","BUB1B","BUB3","BUD23","C11orf80","C14orf39","C2CD3","C2CD6","C4A","CA4","CACNA1G","CAMK2A","CAMKMT","CAMSAP1","CAPN15","CARS1","CASK","CASP10","CASZ1","CATIP","CATSPER1","CATSPER2","CAV1","CAVIN1","CBL","CBX2","CC2D2A","CCBE1","CCDC103","CCDC141","CCDC174","CCDC22","CCDC28B","CCDC32","CCDC34","CCDC39","CCDC40","CCDC62","CCDC65","CCDC8","CCN2","CCND1","CCNO","CCNQ","CCR1","CCR6","CD96","CDC14A","CDC20","CDC42","CDC42BPB","CDC45","CDC6","CDC73","CDCA7","CDH1","CDH11","CDH2","CDH23","CDHR1","CDK8","CDKL5","CDKN1A","CDKN1B","CDKN1C","CDKN2A","CDKN2B","CDKN2C","CDON","CDT1","CDY1","CDY2A","CEACAM3","CEACAM6","CENPT","CEP112","CEP120","CEP152","CEP164","CEP19","CEP290","CEP41","CEP57","CERKL","CFAP221","CFAP251","CFAP298","CFAP300","CFAP410","CFAP418","CFAP43","CFAP44","CFAP45","CFAP47","CFAP52","CFAP58","CFAP65","CFAP69","CFAP70","CFAP74","CFAP91","CFTR","CHD4","CHD7","CHEK2","CHP1","CHRM3","CHRNA3","CHRNG","CHST14","CIDEC","CILK1","CISD2","CITED2","CKAP2L","CLCA4","CLCN3","CLCN4","CLDN2","CLEC7A","CLIC2","CLIP2","CLMP","CLP1","CLPP","CLRN1","CNBP","CNGA1","CNGB1","COG1","COG5","COL14A1","COL1A1","COL25A1","COL3A1","COL4A1","COL4A5","COL4A6","COL5A1","COL5A2","COL7A1","COLEC10","COLEC11","COMT","COQ2","COQ6","CORIN","COX7B","CPE","CPLANE1","CPLX1","CRB1","CREBBP","CRPPA","CRX","CSPP1","CT55","CTBP1","CTC1","CTCF","CTDP1","CTLA4","CTNNB1","CTNS","CTU2","CUL4B","CUL7","CUX1","CWC27","CXCR4","CYB5A","CYP11A1","CYP11B1","CYP11B2","CYP17A1","CYP19A1","CYP21A2","DACT1","DAG1","DAZ1","DAZ2","DAZ3","DAZ4","DBH","DCAF17","DCC","DCHS1","DCLRE1C","DCTN4","DCX","DDB1","DDB2","DDX3X","DDX3Y","DDX59","DDX6","DGCR2","DGCR6","DGCR8","DHCR24","DHCR7","DHDDS","DHH","DHODH","DHX37","DHX38","DIAPH1","DIAPH2","DICER1","DIS3L2","DISP1","DKC1","DLC1","DLK1","DLL1","DLL3","DLX4","DMPK","DMRT1","DMRT3","DMXL2","DNAAF1","DNAAF11","DNAAF2","DNAAF3","DNAAF4","DNAAF5","DNAAF6","DNAH1","DNAH10","DNAH11","DNAH17","DNAH2","DNAH5","DNAH7","DNAH8","DNAH9","DNAI1","DNAI2","DNAJB11","DNAJB13","DNAJC19","DNAJC21","DNAJC30","DNAJC6","DNAL1","DNAL4","DNALI1","DNHD1","DNM1L","DNM2","DNMT3A","DOCK8","DOK7","DPAGT1","DPF2","DPH2","DPM1","DPM2","DPP9","DPY19L2","DPYSL5","DRC1","DSE","DTNBP1","DTYMK","DUSP6","DVL1","DVL3","DYNC2H1","DYNC2I1","DYNC2I2","DYNC2LI1","DYRK1A","DZIP1","EBF3","EBP","ECE1","ECEL1","EDEM3","EDNRA","EED","EFNB1","EHMT1","EIF2B1","EIF2B2","EIF2B3","EIF2B4","EIF2S3","EIF4H","EIF5A","ELN","EMG1","EP300","EPCAM","EPG5","EPHB2","ERAL1","ERAP1","ERBB2","ERCC1","ERCC2","ERCC3","ERCC4","ERCC5","ERCC6","ERCC8","ERMARD","ESCO2","ESR1","ESR2","ESS2","ETFA","ETFB","ETFDH","EVC","EVC2","EWSR1","EXT2","EYS","EZH2","F10","F11","F13A1","F13B","F2","F5","F7","F8","FAM111A","FAM149B1","FAM161A","FAN1","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FARS2","FARSB","FAS","FASLG","FAT4","FBLN1","FBN1","FBXL4","FBXO43","FBXW7","FCGR2A","FDFT1","FDXR","FERMT1","FEZF1","FGA","FGB","FGD1","FGF10","FGF17","FGF20","FGF8","FGFR1","FGFR2","FGFR3","FGFRL1","FGG","FH","FIG4","FIGLA","FIP1L1","FKBP6","FKRP","FKTN","FLCN","FLG","FLI1","FLNA","FLNB","FLRT3","FLT1","FLT4","FMR1","FOCAD","FOS","FOXA2","FOXC1","FOXE1","FOXF1","FOXH1","FOXJ1","FOXL2","FRAS1","FREM1","FREM2","FSCN2","FSHB","FSHR","FSIP2","FTO","FUZ","FXR1","FZD2","G6PC3","GABRD","GAD1","GALC","GALK1","GALT","GANAB","GAS1","GAS2L2","GAS8","GATA1","GATA2","GATA3","GATA4","GATA5","GATA6","GATAD2B","GBA1","GBA2","GCLC","GCM2","GCNA","GDF1","GDF6","GDF9","GFM2","GFRA1","GGN","GGPS1","GH1","GHR","GJA1","GJA5","GJB2","GJB3","GJB4","GJC2","GK","GLE1","GLI1","GLI2","GLI3","GLYCTK","GMNN","GMPPB","GNA11","GNAO1","GNAS","GNB2","GNRH1","GNRHR","GP1BA","GP1BB","GP6","GP9","GPC3","GPC4","GPC6","GPR101","GPR161","GRB10","GREB1L","GREM1","GRIA2","GRIA3","GRIN1","GRIN2B","GRIP1","GRM7","GSC","GSTM3","GTF2E2","GTF2H5","GTF2I","GTF2IRD1","GTF2IRD2","GUCA1B","GUCY1A1","H1-4","H19","H4C11","H4C5","H4C9","H6PD","HAMP","HARS2","HBA1","HBA2","HBB","HCCS","HDAC4","HDAC8","HEATR3","HEPACAM","HERC1","HERC2","HES7","HESX1","HEXB","HFE","HFM1","HGD","HGSNAT","HHAT","HIBCH","HID1","HIRA","HJV","HLA-B","HLA-DPA1","HLA-DPB1","HLA-DQA1","HLA-DQB1","HLA-DRB1","HMGA2","HMOX1","HNF1A","HNF1B","HNRNPH1","HNRNPK","HNRNPR","HOXA13","HOXD13","HPRT1","HPS4","HPS5","HPSE2","HRAS","HS2ST1","HS6ST1","HSD17B3","HSD17B4","HSD3B2","HSF2BP","HSFY1","HSPG2","HTRA2","HTT","HUWE1","HYDIN","HYLS1","HYMAI","IDH1","IDH2","IDH3A","IDH3B","IER3IP1","IFIH1","IFNGR1","IFT140","IFT172","IFT27","IFT74","IFT80","IFT81","IFT88","IGBP1","IGF1","IGF2","IGHG2","IGKC","IKZF1","IL10","IL10RB","IL12A","IL12A-AS1","IL17F","IL17RA","IL17RC","IL17RD","IL1RAPL1","IL23R","IMPDH1","IMPG1","IMPG2","INPP5E","INPP5K","INPPL1","INSL3","INSR","INTU","INVS","IPO8","IQCB1","IQCN","IRF2BP2","IRF4","IRF5","IRF6","IRX5","ISL1","ITGA2B","ITGA8","ITGB3","ITGB6","JAG1","JAK3","JAM3","JMJD1C","KANSL1","KAT5","KAT6A","KAT6B","KATNIP","KCNA1","KCNAB2","KCNH1","KCNJ6","KCNMA1","KCNN3","KCNN4","KCNQ1","KCNQ1OT1","KCNU1","KDM1A","KDM3B","KDM5B","KDM5C","KDM5D","KDM6A","KDM6B","KDR","KDSR","KEAP1","KIAA0586","KIAA0753","KIAA1549","KIF14","KIF21A","KIF7","KIFBP","KISS1","KISS1R","KIT","KIZ","KLF1","KLF6","KLHL10","KLHL15","KLHL40","KLHL41","KLHL7","KLLN","KLRC4","KMT2A","KMT2C","KMT2D","KMT2E","KMT5B","KPNA7","KRAS","KRT5","LAMA5","LARGE1","LARP7","LARS2","LAS1L","LEP","LEPR","LETM1","LFNG","LGR4","LHB","LHCGR","LHX1","LHX3","LHX4","LIG3","LIG4","LIMK1","LIPE","LMAN1","LMBR1","LMNA","LMNB1","LMNB2","LMOD1","LMOD3","LMX1B","LONP1","LRAT","LRIG2","LRP2","LRPPRC","LRRC56","LRRK2","LSM11","LSS","LUZP1","LZTFL1","LZTR1","M1AP","MAB21L1","MAB21L2","MAD1L1","MAD2L2","MADD","MAF","MAGEL2","MAK","MAMLD1","MAP2K1","MAP2K2","MAP3K1","MAP3K7","MAPK1","MAPRE2","MASP1","MBD4","MBD5","MBTPS2","MC2R","MCC","MCFD2","MCIDAS","MCM3AP","MCM5","MCM8","MCM9","MCTP2","MDFIC","MDM2","MECOM","MECP2","MED11","MED12","MED12L","MED13L","MED25","MEFV","MEG3","MEGF8","MEI1","MEIOB","MEN1","MERTK","MESP2","METTL23","METTL27","MGME1","MID1","MIF","MINPP1","MKKS","MKRN3","MKS1","MLH1","MLH3","MLXIPL","MMP14","MMP2","MMP23B","MNS1","MNX1","MOGS","MOS","MOV10L1","MPLKIP","MRAP","MRAS","MRE11","MRPS22","MRPS28","MRPS7","MSH2","MSH3","MSH4","MSH5","MSH6","MSTO1","MSX1","MT-ATP6","MT-ATP8","MT-CO1","MT-CO2","MT-CO3","MT-CYB","MT-ND1","MT-ND4","MT-ND5","MT-ND6","MT-TF","MT-TH","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TW","MTM1","MTMR14","MTOR","MUSK","MXI1","MYC","MYF6","MYH11","MYH3","MYH9","MYL11","MYLK","MYMK","MYMX","MYOD1","MYRF","NAA10","NAB2","NABP1","NAF1","NALCN","NANOS1","NBEAL2","NBN","NCF1","NDN","NDNF","NDP","NDUFA6","NDUFA8","NDUFB11","NDUFB7","NDUFS4","NEB","NECTIN1","NEDD4L","NEK1","NEK10","NEK2","NELFA","NEUROD2","NEXMIF","NF1","NF2","NFIB","NFIX","NHLH2","NHP2","NIN","NIPBL","NKAP","NKX2-1","NKX2-5","NKX2-6","NLRP2","NLRP3","NLRP5","NME5","NME8","NNT","NOBOX","NODAL","NONO","NOP10","NOTCH2","NOTCH3","NPAP1","NPHP1","NPHP3","NPHP4","NPM1","NR0B1","NR2E3","NR2F2","NR3C1","NR5A1","NRAS","NRL","NSD1","NSD2","NSMF","NSUN2","NTHL1","NTN1","NUMA1","NUP107","NUP88","NXN","OBSL1","OCA2","OCRL","ODAD1","ODAD2","ODAD3","ODAD4","ODC1","OFD1","OGT","OPA1","OPCML","OPHN1","ORC1","ORC4","ORC6","OTUD5","OTUD6B","OTX2","PACS1","PACS2","PADI6","PAFAH1B1","PAICS","PALB2","PALLD","PANX1","PAPSS2","PARK7","PARN","PATL2","PAX2","PAX3","PAX6","PAX7","PBX1","PCARE","PCNT","PCSK1","PDE11A","PDE4D","PDE6A","PDE6B","PDE6D","PDE6G","PDGFB","PDGFRL","PDHA2","PDPN","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PGR","PHACTR1","PHF21A","PHF6","PHF8","PHGDH","PHIP","PHKA2","PHKB","PHKG2","PHOX2A","PI4KA","PIEZO1","PIEZO2","PIGA","PIGG","PIGL","PIGN","PIGP","PIGQ","PIGS","PIK3C2A","PIK3CA","PIK3R1","PINK1","PITX2","PKD1","PKD2","PLA2G2A","PLAG1","PLAGL1","PLAU","PLCZ1","PLG","PLIN1","PLVAP","PLXND1","PMFBP1","PML","PMM2","PMS1","PMS2","PNKP","PNLDC1","PNPLA6","POC1A","PODXL","POF1B","POFUT1","POGLUT1","POLA1","POLD1","POLE","POLG","POLG2","POLR1B","POLR1C","POLR1D","POLR3A","POLR3B","POLR3H","POLR3K","POMGNT1","POMGNT2","POMK","POMT1","POMT2","POR","PORCN","POU1F1","POU3F3","PPARG","PPFIBP1","PPM1B","PPP1CB","PPP1R12A","PPP1R15B","PPP2R1A","PPP2R3C","PQBP1","PRCD","PRDM13","PRDM16","PREPL","PRIM1","PRKACA","PRKACB","PRKACG","PRKAR1A","PRKCD","PRKCZ","PRKDC","PRKN","PRLR","PRMT7","PROK2","PROKR2","PROM1","PROP1","PRORP","PRPF3","PRPF31","PRPF4","PRPF6","PRPF8","PRPH2","PRPS1","PRRX1","PRTN3","PRY","PRY2","PSENEN","PSMB8","PSMC1","PSMC3IP","PSMD12","PSPH","PTCH1","PTCH2","PTDSS1","PTEN","PTPN11","PTPN12","PTPN22","PTPRF","PTPRJ","PTRH2","PUF60","PWAR1","PWRN1","PYCR1","QRICH2","RAB18","RAB23","RAB3GAP1","RAB3GAP2","RABL3","RAC1","RAC3","RAD21","RAD50","RAD51","RAD51C","RAD51D","RAD54B","RAF1","RAPSN","RARA","RARB","RASA2","RASGRP1","RASGRP2","RBBP8","RBM10","RBM28","RBM8A","RBMX","RBMY1A1","RBP3","RCBTB1","RDH12","REC114","RECQL4","REEP6","RELA","RERE","RET","REV3L","RFC2","RFWD3","RFX7","RGR","RHO","RIN2","RIPK4","RIPPLY2","RIT1","RLBP1","RLIM","RNASEH2A","RNASEH2B","RNASEH2C","RNASEL","RNF113A","RNF135","RNF212","RNF216","RNF43","RNU12","RNU4ATAC","RNU7-1","ROBO1","ROM1","ROR2","RORA","RP1","RP1L1","RP2","RP9","RPE65","RPGR","RPGRIP1","RPGRIP1L","RPL10","RPL10L","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS4Y2","RPS6KA3","RPS7","RRAS","RRAS2","RREB1","RRM2B","RSPH1","RSPH3","RSPH4A","RSPH9","RSPO1","RSPO2","RTEL1","RTL1","RTN2","RTTN","RXYLT1","RYR1","SACS","SAG","SALL1","SALL4","SAMD9","SAMHD1","SATB2","SC5D","SCAPER","SCLT1","SCN1B","SCN2A","SCP2","SCUBE3","SCYL2","SDCCAG8","SDHB","SDHC","SDHD","SEC23A","SEC23B","SEC24C","SEMA3A","SEMA3E","SEMA4A","SEPTIN12","SERPINA1","SERPINE1","SETBP1","SETD1A","SETD2","SETD5","SF3B4","SGPL1","SHH","SHOC1","SHOC2","SIAH1","SIK1","SIL1","SIM1","SIN3A","SIX3","SIX6","SKI","SKIC3","SLC11A1","SLC16A2","SLC18A3","SLC19A2","SLC25A10","SLC25A13","SLC25A22","SLC25A24","SLC26A2","SLC26A8","SLC26A9","SLC29A3","SLC2A3","SLC31A1","SLC32A1","SLC34A2","SLC35A2","SLC35D1","SLC37A4","SLC39A4","SLC3A1","SLC40A1","SLC6A14","SLC6A17","SLC7A14","SLC9A3","SLFN14","SLX4","SMAD3","SMAD4","SMARCA2","SMARCA4","SMARCAL1","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SMC1A","SMC3","SMCHD1","SMG8","SMO","SMOC1","SMS","SNAP29","SNCA","SNORD115-1","SNORD116-1","SNRNP200","SNRPN","SOHLH1","SOS1","SOS2","SOST","SOX10","SOX11","SOX18","SOX2","SOX3","SOX4","SOX5","SOX9","SPAG1","SPAG17","SPATA16","SPATA7","SPECC1L","SPEF2","SPEN","SPIDR","SPINK2","SPINT2","SPRED1","SPRED2","SPRTN","SPRY4","SPTBN1","SQSTM1","SRA1","SRC","SRCAP","SRD5A2","SRY","SSR4","SSX1","STAC3","STAG1","STAG3","STAR","STAT3","STAT4","STAT5B","STAT6","STEAP3","STK11","STK36","STOX1","STRA6","STRC","STS","STT3A","STT3B","STUB1","STX1A","STXBP1","SUCLG1","SUFU","SUN5","SUZ12","SYCE1","SYCP2","SYCP3","SYNE1","SYNGAP1","SYNJ1","TAC3","TACR3","TAF4B","TAF6","TALDO1","TAPT1","TARS1","TASP1","TBC1D20","TBC1D24","TBCD","TBCE","TBCK","TBL1X","TBL1XR1","TBL2","TBX1","TBX15","TBX22","TBX3","TBX4","TBX6","TCF12","TCF4","TCOF1","TCTN1","TCTN2","TCTN3","TDGF1","TDRD9","TEKT3","TERB1","TERB2","TERC","TERT","TEX11","TEX14","TEX15","TFAP2A","TFR2","TGDS","TGFB1","TGFBR1","TGFBR2","TGIF1","THOC2","THOC6","THSD1","TIAM1","TINF2","TKT","TLE6","TLR2","TLR4","TMCO1","TMEM107","TMEM216","TMEM231","TMEM237","TMEM270","TMEM63A","TMEM67","TMEM70","TMEM94","TNFAIP3","TNFRSF1A","TNRC6B","TNXB","TOE1","TOGARAM1","TONSL","TOPORS","TP53","TP63","TPM2","TPR","TRAF3IP1","TRAF3IP2","TRAF7","TRAIP","TRANK1","TREX1","TRIM32","TRIM8","TRIP13","TRIP4","TRMT10A","TRPM3","TRPV6","TRRAP","TSC1","TSC2","TSGA10","TSHB","TSPY1","TSPYL1","TSR2","TTC12","TTC21A","TTC29","TTC5","TTC8","TTI2","TTR","TUB","TUBA1A","TUBB","TUBB2B","TUBB3","TUBB8","TULP1","TWIST1","TWIST2","TWNK","TXNDC15","TXNRD2","TYMP","TYMS","UBA1","UBAC2","UBAP1","UBE2A","UBE2T","UBE3B","UBE4B","UBR1","UBR7","UCHL1","UFD1","UNG","UPB1","UPF3B","UQCC2","USB1","USF3","USH2A","USP26","USP48","USP7","USP8","USP9X","USP9Y","VAC14","VAMP7","VANGL1","VCY","VEGFC","VHL","VPS13B","VPS13C","VPS35L","VPS37D","VPS4A","VPS50","VWF","WAS","WASHC5","WDPCP","WDR11","WDR19","WDR35","WDR37","WDR62","WEE2","WFS1","WIPF1","WNT10A","WNT3","WNT4","WNT5A","WNT7A","WNT7B","WNT9B","WRAP53","WRN","WT1","WWOX","XKRY","XPA","XPC","XRCC2","XRCC4","XYLT2","YARS1","YWHAE","YY1","ZBTB16","ZBTB20","ZDHHC9","ZEB2","ZFHX3","ZFHX4","ZFP36L2","ZFPM2","ZFTA","ZIC2","ZMIZ1","ZMPSTE24","ZMYM2","ZMYND10","ZMYND15","ZNF408","ZNF513","ZNF699","ZNRF3","ZP1","ZP2","ZP3","ZPBP","ZPR1","ZSWIM6","ZSWIM7"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_REPRODUCTIVE_SYSTEM_PHYSIOLOGY":{"collection":"C5:HPO","systematicName":"M34524","pmid":"","exactSource":"HP:0000080","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000080","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_REPRODUCTIVE_SYSTEM_PHYSIOLOGY","geneSymbols":["AARS1","AARS2","ABCA4","ABCD1","ABCD4","ABL1","ACTA2","ACTB","ACTG2","ACTL9","ADAMTS3","ADARB1","ADAT3","ADGRG2","ADNP","AEBP1","AFF4","AGA","AGBL5","AGGF1","AGK","AGPAT2","AHI1","AHR","AHSG","AIP","AIRE","AK7","AKAP3","AKR1C2","AKR1C4","AKT1","AKT2","ALDH18A1","ALDH1A2","ALG1","ALG12","ALG5","ALG8","ALG9","ALKBH8","ALMS1","ALX4","AMACR","AMH","AMHR2","ANAPC1","ANAPC7","ANGPT2","ANK1","ANKLE2","ANKRD11","ANOS1","ANTXR1","AP1S2","APC2","AR","ARCN1","ARHGEF18","ARID1A","ARID1B","ARID2","ARL2BP","ARL3","ARL6","ARMC2","ARMC5","ARNT2","ARSL","ARVCF","ARX","ASH1L","ASTL","ASXL3","ATAD3A","ATM","ATN1","ATP5F1A","ATP5F1D","ATP5F1E","ATP5MK","ATP6V0A2","ATP6V1A","ATP6V1E1","ATP7B","ATPAF1","ATPAF2","ATR","ATRX","ATXN8OS","AURKC","AUTS2","AXL","B3GALNT2","B3GLCT","B4GALNT1","B4GALT7","B4GAT1","B9D1","B9D2","BAP1","BAZ1B","BBIP1","BBS1","BBS10","BBS12","BBS2","BBS4","BBS5","BBS7","BBS9","BCL10","BCL7B","BCOR","BCS1L","BDNF","BEST1","BICC1","BICRA","BIN1","BLM","BLOC1S3","BLOC1S5","BMP15","BMP2","BMP4","BMP6","BMPR1B","BNC1","BPTF","BPY2","BRAF","BRCA1","BRCA2","BRCC3","BRD4","BRDT","BRF1","BRIP1","BRWD3","BSCL2","BTG4","BUB1B","BUD23","C11orf80","C14orf39","C2CD3","C2CD6","C4A","CA4","CACNA1G","CAMK2A","CAMKMT","CAMSAP1","CARS1","CASP10","CASZ1","CATIP","CATSPER1","CATSPER2","CAV1","CAVIN1","CBL","CBX2","CC2D2A","CCBE1","CCDC103","CCDC141","CCDC174","CCDC22","CCDC28B","CCDC32","CCDC34","CCDC39","CCDC40","CCDC62","CCDC65","CCDC8","CCN2","CCNO","CCR1","CCR6","CD96","CDC14A","CDC20","CDC42","CDC42BPB","CDC45","CDC6","CDC73","CDCA7","CDH11","CDH2","CDH23","CDHR1","CDK8","CDKN1A","CDKN1B","CDKN1C","CDKN2A","CDKN2B","CDKN2C","CDON","CDT1","CDY1","CDY2A","CEP112","CEP120","CEP152","CEP164","CEP19","CEP290","CERKL","CFAP221","CFAP251","CFAP298","CFAP300","CFAP410","CFAP418","CFAP43","CFAP44","CFAP45","CFAP47","CFAP52","CFAP58","CFAP65","CFAP69","CFAP70","CFAP74","CFAP91","CFTR","CHD4","CHD7","CHEK2","CHP1","CHRM3","CHRNG","CHST14","CIDEC","CILK1","CISD2","CITED2","CKAP2L","CLCN3","CLCN4","CLDN2","CLEC7A","CLIC2","CLIP2","CLP1","CLPP","CLRN1","CNBP","CNGA1","CNGB1","COG1","COG5","COL25A1","COL3A1","COL4A1","COLEC10","COLEC11","COMT","COQ2","COX7B","CPE","CPLANE1","CPLX1","CRB1","CREBBP","CRPPA","CRX","CSPP1","CT55","CTBP1","CTC1","CTCF","CTDP1","CTNNB1","CTNS","CUL4B","CUL7","CWC27","CYB5A","CYP11A1","CYP11B1","CYP17A1","CYP19A1","DACT1","DAG1","DAZ1","DAZ2","DAZ3","DAZ4","DBH","DCAF17","DCC","DDB2","DDX3X","DDX3Y","DDX59","DDX6","DGCR2","DGCR6","DGCR8","DHCR7","DHDDS","DHH","DHODH","DHX37","DHX38","DIAPH1","DIAPH2","DICER1","DIS3L2","DKC1","DLK1","DLL3","DLX4","DMPK","DMRT1","DMRT3","DMXL2","DNAAF1","DNAAF11","DNAAF2","DNAAF3","DNAAF4","DNAAF5","DNAAF6","DNAH1","DNAH10","DNAH11","DNAH17","DNAH2","DNAH5","DNAH7","DNAH8","DNAH9","DNAI1","DNAI2","DNAJB11","DNAJB13","DNAJC19","DNAJC21","DNAJC30","DNAJC6","DNAL1","DNAL4","DNALI1","DNHD1","DNM1L","DNM2","DNMT3A","DOK7","DPAGT1","DPF2","DPH2","DPP9","DPY19L2","DPYSL5","DRC1","DSE","DTNBP1","DTYMK","DUSP6","DVL1","DVL3","DYNC2H1","DYNC2I1","DYNC2I2","DYNC2LI1","DYRK1A","DZIP1","EBF3","EBP","EDEM3","EED","EFNB1","EHMT1","EIF2B1","EIF2B2","EIF2B3","EIF2B4","EIF2S3","EIF4H","EIF5A","ELN","EMG1","EP300","ERAL1","ERAP1","ERCC1","ERCC2","ERCC3","ERCC4","ERCC5","ERCC6","ERCC8","ESCO2","ESR1","ESR2","ESS2","EVC","EVC2","EWSR1","EXT2","EYS","EZH2","F10","F11","F13A1","F13B","F2","F5","F7","F8","FAM111A","FAM149B1","FAM161A","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FARS2","FAS","FASLG","FAT4","FBLN1","FBN1","FBXO43","FBXW7","FCGR2A","FDFT1","FEZF1","FGA","FGB","FGD1","FGF10","FGF17","FGF8","FGFR1","FGFR2","FGFR3","FGFRL1","FGG","FIG4","FIGLA","FIP1L1","FKBP6","FKRP","FKTN","FLG","FLI1","FLNA","FLNB","FLRT3","FLT4","FMR1","FOCAD","FOS","FOXA2","FOXJ1","FOXL2","FRAS1","FREM2","FSCN2","FSHB","FSHR","FSIP2","FTO","FUZ","FXR1","FZD2","G6PC3","GABRD","GALC","GALK1","GALT","GANAB","GAS2L2","GAS8","GATA1","GATA3","GATA4","GATA5","GATA6","GBA1","GBA2","GCM2","GCNA","GDF1","GDF6","GDF9","GFM2","GGN","GGPS1","GHR","GJA1","GJA5","GJB2","GJB3","GJB4","GJC2","GK","GLE1","GLI1","GLI2","GLI3","GMNN","GMPPB","GNAS","GNB2","GNRH1","GNRHR","GP1BA","GP1BB","GP6","GP9","GPC3","GPC4","GPC6","GPR101","GPR161","GRB10","GRIA2","GRIA3","GRIN2B","GRIP1","GSC","GTF2E2","GTF2H5","GTF2I","GTF2IRD1","GTF2IRD2","GUCA1B","GUCY1A1","H1-4","H19","H4C5","H4C9","H6PD","HAMP","HARS2","HBA1","HBA2","HBB","HCCS","HDAC4","HDAC8","HERC2","HES7","HESX1","HEXB","HFE","HFM1","HGSNAT","HIBCH","HIRA","HJV","HLA-B","HLA-DQA1","HLA-DQB1","HLA-DRB1","HMGA2","HNF1B","HNRNPH1","HNRNPK","HNRNPR","HOXD13","HPRT1","HPS4","HPS5","HPSE2","HRAS","HS2ST1","HS6ST1","HSD17B3","HSD17B4","HSD3B2","HSF2BP","HSFY1","HSPG2","HTRA2","HTT","HUWE1","HYDIN","HYLS1","HYMAI","IDH3A","IDH3B","IER3IP1","IFNGR1","IFT140","IFT172","IFT27","IFT74","IFT80","IFT88","IGBP1","IGF1","IGF2","IKZF1","IL10","IL12A","IL12A-AS1","IL17F","IL17RA","IL17RC","IL17RD","IL1RAPL1","IL23R","IMPDH1","IMPG1","IMPG2","INPP5K","INPPL1","INSL3","INVS","IQCB1","IQCN","IRF2BP2","IRF4","IRF5","IRF6","IRX5","ITGA2B","ITGA8","ITGB3","ITGB6","JAG1","JAM3","JMJD1C","KANSL1","KAT5","KAT6A","KAT6B","KCNAB2","KCNJ6","KCNQ1","KCNQ1OT1","KCNU1","KDM1A","KDM3B","KDM5B","KDM5C","KDM5D","KDM6A","KDM6B","KDR","KDSR","KEAP1","KIAA0753","KIAA1549","KIF21A","KIF7","KISS1","KISS1R","KIT","KIZ","KLHL10","KLHL15","KLHL7","KLRC4","KMT2A","KMT2D","KMT2E","KMT5B","KPNA7","KRAS","LARGE1","LARP7","LARS2","LAS1L","LEP","LEPR","LETM1","LFNG","LGR4","LHB","LHCGR","LHX1","LHX3","LHX4","LIG3","LIG4","LIMK1","LIPE","LMAN1","LMBR1","LMNA","LMNB1","LMNB2","LMOD1","LMX1B","LONP1","LRAT","LRIG2","LRRC56","LRRK2","LSS","LUZP1","LZTFL1","LZTR1","M1AP","MAD2L2","MADD","MAF","MAGEL2","MAK","MAMLD1","MAP2K1","MAP2K2","MAP3K1","MAP3K7","MAPK1","MAPRE2","MASP1","MBD5","MBTPS2","MC2R","MCFD2","MCIDAS","MCM3AP","MCM5","MCM8","MCM9","MCTP2","MDFIC","MDM2","MECOM","MECP2","MED11","MED12","MED13L","MEFV","MEG3","MEGF8","MEI1","MEIOB","MEN1","MERTK","MESP2","METTL27","MGME1","MID1","MINPP1","MKKS","MKRN3","MKS1","MLXIPL","MMP23B","MNS1","MOGS","MOS","MOV10L1","MPLKIP","MRAP","MRAS","MRE11","MRPS22","MRPS28","MRPS7","MSH4","MSH5","MSTO1","MT-ATP6","MT-ATP8","MT-CO1","MT-CO2","MT-CO3","MT-ND1","MT-ND4","MT-ND5","MT-ND6","MT-TF","MT-TH","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TW","MTM1","MTMR14","MTOR","MUSK","MYF6","MYH11","MYH3","MYH9","MYL11","MYLK","MYMK","MYOD1","MYRF","NAA10","NABP1","NAF1","NALCN","NANOS1","NBEAL2","NBN","NCF1","NDN","NDNF","NDP","NDUFB11","NDUFB7","NECTIN1","NEDD4L","NEK10","NEK2","NELFA","NF1","NF2","NFIB","NFIX","NHLH2","NHP2","NIN","NIPBL","NKAP","NKX2-5","NKX2-6","NLRP2","NLRP5","NME5","NME8","NNT","NOBOX","NONO","NOP10","NOTCH2","NOTCH3","NPAP1","NPHP1","NPHP3","NPHP4","NPM1","NR0B1","NR2E3","NR3C1","NR5A1","NRAS","NRL","NSD1","NSD2","NSMF","NSUN2","NTN1","NUMA1","NUP107","NUP88","NXN","OBSL1","OCA2","OCRL","ODAD1","ODAD2","ODAD3","ODAD4","ODC1","OFD1","OGT","OPA1","OPHN1","ORC1","ORC4","ORC6","OTUD5","OTUD6B","OTX2","PACS1","PACS2","PADI6","PAICS","PALB2","PANX1","PAPSS2","PARK7","PARN","PATL2","PAX2","PAX6","PAX7","PBX1","PCARE","PCSK1","PDE11A","PDE4D","PDE6A","PDE6B","PDE6D","PDE6G","PDGFB","PDHA2","PDPN","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PGR","PHACTR1","PHF6","PHF8","PHGDH","PHIP","PHKA2","PHKB","PHKG2","PHOX2A","PIEZO1","PIEZO2","PIGA","PIGG","PIGL","PIGN","PIGS","PIK3C2A","PIK3CA","PINK1","PKD1","PKD2","PLAG1","PLAGL1","PLAU","PLCZ1","PLIN1","PLVAP","PLXND1","PMFBP1","PML","PMM2","PNLDC1","PNPLA6","POC1A","PODXL","POF1B","POLA1","POLD1","POLE","POLG","POLG2","POLR1B","POLR1C","POLR1D","POLR3A","POLR3B","POLR3H","POLR3K","POMGNT1","POMGNT2","POMK","POMT1","POMT2","POR","PORCN","POU1F1","POU3F3","PPARG","PPFIBP1","PPM1B","PPP1CB","PPP1R12A","PPP1R15B","PPP2R3C","PQBP1","PRCD","PRDM13","PRDM16","PREPL","PRIM1","PRKACA","PRKACB","PRKACG","PRKAR1A","PRKCD","PRKCZ","PRKN","PRLR","PRMT7","PROK2","PROKR2","PROM1","PROP1","PRORP","PRPF3","PRPF31","PRPF4","PRPF6","PRPF8","PRPH2","PRPS1","PRY","PRY2","PSMB8","PSMC1","PSMC3IP","PSMD12","PTCH1","PTCH2","PTDSS1","PTEN","PTPN11","PTPRF","PWAR1","PWRN1","PYCR1","QRICH2","RAB18","RAB23","RAB3GAP1","RAB3GAP2","RAC1","RAC3","RAD21","RAD51","RAD51C","RAF1","RAPSN","RARA","RARB","RASA2","RASGRP1","RASGRP2","RBM10","RBM28","RBMX","RBMY1A1","RBP3","RCBTB1","RDH12","REC114","RECQL4","REEP6","RERE","REV3L","RFC2","RFWD3","RGR","RHO","RIN2","RIPK4","RIPPLY2","RIT1","RLBP1","RLIM","RNF113A","RNF135","RNF212","RNF216","RNU4ATAC","ROBO1","ROM1","ROR2","RORA","RP1","RP1L1","RP2","RP9","RPE65","RPGR","RPGRIP1","RPGRIP1L","RPL10","RPL10L","RPS4Y2","RRAS","RRAS2","RREB1","RRM2B","RSPH1","RSPH3","RSPH4A","RSPH9","RSPO1","RSPO2","RTEL1","RTL1","RTN2","RTTN","RXYLT1","RYR1","SACS","SAG","SALL1","SAMD9","SATB2","SCAPER","SCLT1","SCP2","SCYL2","SDCCAG8","SEC23A","SEC24C","SEMA3A","SEMA3E","SEMA4A","SEPTIN12","SERPINE1","SETBP1","SETD1A","SETD2","SETD5","SGPL1","SHOC1","SHOC2","SIAH1","SIL1","SIM1","SIN3A","SIX6","SKI","SLC16A2","SLC18A3","SLC19A2","SLC25A10","SLC25A13","SLC25A24","SLC26A2","SLC26A8","SLC29A3","SLC2A3","SLC34A2","SLC35D1","SLC37A4","SLC39A4","SLC3A1","SLC40A1","SLC7A14","SLFN14","SLX4","SMAD4","SMARCA2","SMARCA4","SMARCAL1","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SMC1A","SMC3","SMCHD1","SMO","SMOC1","SMS","SNAP29","SNCA","SNORD115-1","SNORD116-1","SNRNP200","SNRPN","SOHLH1","SOS1","SOS2","SOST","SOX10","SOX11","SOX18","SOX2","SOX3","SOX4","SOX9","SPAG1","SPAG17","SPATA16","SPATA7","SPECC1L","SPEF2","SPEN","SPIDR","SPINK2","SPRED2","SPRTN","SPRY4","SQSTM1","SRA1","SRCAP","SRD5A2","SRY","SSX1","STAC3","STAG1","STAG3","STAR","STAT3","STAT4","STAT5B","STEAP3","STK11","STK36","STRA6","STRC","STS","STT3A","STT3B","STUB1","STX1A","STXBP1","SUFU","SUN5","SUZ12","SYCE1","SYCP2","SYCP3","SYNE1","SYNJ1","TAC3","TACR3","TAF4B","TAF6","TARS1","TASP1","TBC1D20","TBCD","TBCE","TBCK","TBL1X","TBL1XR1","TBL2","TBX1","TBX22","TBX3","TCF12","TCF4","TCOF1","TCTN1","TCTN2","TCTN3","TDRD9","TEKT3","TERB1","TERB2","TERC","TERT","TEX11","TEX14","TEX15","TFAP2A","TFR2","TGDS","TGFB1","THOC2","THOC6","THSD1","TIAM1","TINF2","TKT","TLE6","TLR4","TMEM107","TMEM216","TMEM231","TMEM237","TMEM270","TMEM67","TMEM70","TMEM94","TNFRSF1A","TNRC6B","TOE1","TOGARAM1","TOPORS","TP53","TP63","TPM2","TPR","TRAF3IP1","TRAF3IP2","TRAF7","TRANK1","TRIM32","TRIP13","TRIP4","TRMT10A","TRPM3","TRRAP","TSGA10","TSHB","TSPY1","TSPYL1","TSR2","TTC12","TTC21A","TTC29","TTC5","TTC8","TTI2","TTR","TUB","TUBA1A","TUBB","TUBB2B","TUBB3","TUBB8","TULP1","TWIST1","TWIST2","TWNK","TXNDC15","TXNRD2","TYMP","TYMS","UBA1","UBAC2","UBAP1","UBE2A","UBE2T","UBE4B","UBR1","UBR7","UCHL1","UFD1","UPF3B","UQCC2","USB1","USH2A","USP26","USP48","USP7","USP8","USP9Y","VAC14","VAMP7","VANGL1","VCY","VEGFC","VPS13B","VPS13C","VPS35L","VPS37D","VPS4A","VPS50","VWF","WAS","WDPCP","WDR11","WDR19","WDR35","WDR37","WDR62","WEE2","WFS1","WIPF1","WNT3","WNT4","WNT5A","WNT7A","WNT7B","WRAP53","WRN","WT1","WWOX","XKRY","XPA","XPC","XRCC2","XRCC4","XYLT2","YARS1","YY1","ZBTB16","ZBTB20","ZDHHC9","ZEB2","ZFHX4","ZFP36L2","ZFPM2","ZMIZ1","ZMPSTE24","ZMYM2","ZMYND10","ZMYND15","ZNF408","ZNF513","ZNF699","ZNRF3","ZP1","ZP2","ZP3","ZPBP","ZPR1","ZSWIM6","ZSWIM7"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DUPLICATED_COLLECTING_SYSTEM":{"collection":"C5:HPO","systematicName":"M34525","pmid":"","exactSource":"HP:0000081","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000081","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DUPLICATED_COLLECTING_SYSTEM","geneSymbols":["COL18A1","DHCR7","FANCA","FANCC","FANCD2","FANCE","IARS1","JAG1","KDM6A","KMT2D","LAMA3","LAMB3","LAMC2","MAPK1","OTUD5","PIGA","PIGL","POGZ","PSMC1","SHOC2","TELO2","TNXB","TP63"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RENAL_INSUFFICIENCY":{"collection":"C5:HPO","systematicName":"M34526","pmid":"","exactSource":"HP:0000083","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000083","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RENAL_INSUFFICIENCY","geneSymbols":["ABCA12","ACP5","ACSL4","ACTN4","AGXT","AHI1","ALDH4A1","ALDOA","ALDOB","ALG1","ALG5","ALG9","ALMS1","ALOX12B","ALOXE3","AMMECR1","AMN","ANKFY1","ANKS6","ANLN","AP1S3","AP2S1","APC2","APOE","APOL1","APRT","AQP2","ARHGAP24","ARHGDIA","ASPRV1","AVIL","AVPR2","B2M","BAZ1B","BBIP1","BBS10","BBS9","BCL7B","BICC1","BNC2","BRCA1","BRCA2","BRD4","BRIP1","BSND","BTNL2","BUD23","C3","C4A","CACNA1S","CASP10","CAV1","CC2D2A","CCN2","CCND1","CCNQ","CCR1","CCR6","CD151","CD2AP","CD46","CD81","CDC73","CEP120","CEP164","CEP290","CEP83","CFB","CFH","CFHR1","CFHR3","CFHR5","CFI","CHD4","CHRM3","CHRNA3","CLCN5","CLCNKA","CLCNKB","CLDN10","CLDN16","CLDN19","CLIP2","CLPB","COG1","COL4A1","COL4A3","COL4A4","COL4A5","COL4A6","COL7A1","COQ6","COQ8B","CORIN","CPT2","CRB2","CSPP1","CTLA4","CTNS","CUBN","CYP4F22","DAAM2","DACT1","DCDC2","DGKE","DHDDS","DNAJB11","DNAJC30","DNASE1L3","DSTYK","DYNC2H1","DYNC2I1","DYNC2I2","DYNC2LI1","DZIP1L","EHHADH","EHMT1","EIF2AK3","EIF4H","ELN","ELP1","EMP2","ERAP1","ERCC4","ERCC6","ERCC8","EYA1","FAH","FAM20A","FAN1","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FAS","FASLG","FKBP6","FLT1","FN1","FUZ","FXYD2","GANAB","GAPVD1","GATA3","GATM","GCDH","GCM2","GLA","GLIS2","GON7","GPR35","GRHPR","GSN","GTF2I","GTF2IRD1","GTF2IRD2","HBB","HDAC8","HELLPAR","HLA-B","HLA-DPA1","HLA-DPB1","HLA-DRB1","HMBS","HNF1B","HNRNPK","HOXA13","HPRT1","HPS1","HPSE2","HRAS","HSD11B2","IFNG","IFNGR1","IFT122","IFT140","IFT172","IFT27","IFT43","IFT80","IKZF1","IL10","IL12A","IL12A-AS1","IL23R","IL36RN","INF2","INPP5E","INVS","IQCB1","IRAK1","IRF5","ITGA3","JAG1","KARS1","KCNE5","KCTD1","KIAA0586","KIAA0753","KLRC4","KYNU","LAGE3","LAMA5","LAMB2","LCAT","LDHA","LHX1","LIMK1","LIPN","LMX1B","LPIN1","LRIG2","LZTFL1","MAD2L2","MAFB","MAGI2","MAPKBP1","MDM2","MED12","MEFV","MEN1","METTL27","MLXIPL","MMACHC","MME","MMP1","MMUT","MOCOS","MST1","MT-CO1","MT-CO3","MT-TE","MT-TK","MT-TL1","MT-TT","MUC1","MYCN","MYD88","MYH9","MYO1E","MYOCD","NCF1","NDUFAF6","NEK8","NFS1","NIPAL4","NIPBL","NLRP3","NOD2","NOS1AP","NOTCH2","NPHP1","NPHP3","NPHP4","NPHS1","NPHS2","NSD1","NTRK1","NUP107","NUP133","NUP160","NUP205","NUP37","NUP85","NUP93","OBSCN","OCLN","OCRL","OFD1","OSGEP","P4HA2","PALB2","PAX2","PAX6","PBX1","PEX7","PGAM2","PGK1","PHYH","PIGA","PKD1","PKD2","PKDCC","PKHD1","PLCE1","PNPLA6","POLRMT","PPOX","PRDX1","PRKCD","PRPS1","PRTN3","PTPN22","PTPRO","PUS3","PYGM","RAD21","RAD51","RAD51C","RASGRP1","REN","RFC2","RFWD3","RMND1","RNU7-1","ROBO1","RPGRIP1L","RRM2B","RYR1","SAA1","SALL1","SARS2","SAT1","SCARB2","SCNN1A","SCNN1B","SCNN1G","SDCCAG8","SDR9C7","SEC61A1","SEMA4D","SETD2","SGPL1","SH2B1","SHPK","SIX1","SIX5","SLC22A12","SLC26A1","SLC2A9","SLC30A9","SLC34A1","SLC37A4","SLC3A1","SLC41A1","SLC4A2","SLC5A1","SLC7A7","SLC7A9","SLX4","SMARCAL1","SMC1A","SMC3","SOX18","SPP1","SPRY2","SRCAP","STAT2","STAT4","STOX1","STS","STX1A","SULT2B1","TBC1D8B","TBL2","TBX1","TBX18","TCF4","TCN2","TGM1","THBD","TLR4","TMEM126B","TMEM138","TMEM216","TMEM231","TMEM237","TMEM260","TMEM270","TMEM67","TP53RK","TPRKB","TRAF3IP1","TRPC6","TSC1","TSC2","TTC21B","TTC26","UBAC2","UBE2T","UMOD","VANGL1","VPS37D","WDR19","WDR35","WDR73","WT1","XPNPEP3","XRCC2","YRDC","ZMPSTE24","ZNF423","ZNF592","ZNF699","ZNFX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HORSESHOE_KIDNEY":{"collection":"C5:HPO","systematicName":"M34527","pmid":"","exactSource":"HP:0000085","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000085","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HORSESHOE_KIDNEY","geneSymbols":["ADA2","ADAMTS3","AFF3","AFF4","ARID1A","ARID1B","ARID2","BICRA","BMPER","CAPN15","CC2D2A","CCBE1","CCNQ","CD96","CFAP418","CHD7","CHST14","CHUK","COLEC10","COLEC11","CWC27","DDB1","DDX59","DKC1","DPF2","DSE","DSTYK","DYNC2LI1","ESCO2","EXTL3","FANCA","FANCC","FANCD2","FANCE","FANCI","FAT4","FGFR2","GATA1","GRB10","GREB1L","HEATR3","HMGA2","HNF1B","HNRNPH1","HNRNPU","HRAS","KAT5","KDM6A","KRAS","LEMD3","MAP3K7","MNX1","MRPS34","MYCN","NRAS","PAX2","PBX1","POR","PORCN","PUF60","RARB","RBM10","RBM8A","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS7","SALL4","SC5D","SEMA3E","SLX4","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SMOC1","SNRPB","SON","SOX11","SOX4","SRY","SSR4","STAG1","STRA6","TCTN3","THOC6","TRIP13","TSR2","UBA2","UBE2A","WNT7B","WT1","ZIC3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ECTOPIC_KIDNEY":{"collection":"C5:HPO","systematicName":"M34528","pmid":"","exactSource":"HP:0000086","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000086","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ECTOPIC_KIDNEY","geneSymbols":["ADAMTS3","APC","ARID1B","BAZ1B","BCL7B","BUD23","CCBE1","CCNQ","CDC42BPB","CHN1","CLIP2","CTU2","DACT1","DDX59","DDX6","DNA2","DNAJC30","DYRK1A","EBP","EIF4H","ELN","FANCA","FANCC","FANCD2","FANCE","FANCF","FAT4","FGFR1","FKBP6","FUZ","GLI3","GNB2","GTF2I","GTF2IRD1","GTF2IRD2","HMGA2","HNF1B","HOXD13","JAM3","KDM6A","KMT2D","KNSTRN","LEMD3","LIMK1","LRP4","MAFB","METTL27","MLXIPL","NCF1","NIPBL","NRIP1","PBX1","PIK3CD","PUF60","RAD51","RBBP8","RFC2","RIPK4","RPS26","RTTN","SALL1","SALL4","SF3B2","SLX4","SMS","SNRPB","SPECC1L","SPINK5","STRA6","STX1A","TBL2","TMEM270","USP9X","VANGL1","VPS37D","WAC","WNT4","WT1","XRCC2","XRCC4","ZEB2","ZMYM2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RENAL_HYPOPLASIA":{"collection":"C5:HPO","systematicName":"M34529","pmid":"","exactSource":"HP:0000089","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000089","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RENAL_HYPOPLASIA","geneSymbols":["AFF3","ARID1B","ARL6","ARVCF","ATN1","ATP5F1A","ATP5F1D","ATP5F1E","ATP5MK","ATPAF1","ATPAF2","ATRX","B3GLCT","BAZ1B","BCL7B","BCOR","BMP4","BUD23","C2CD3","CENPF","CEP120","CEP55","CHD7","CLIP2","COMT","COX14","DACT1","DCDC2","DCHS1","DHCR7","DLL4","DNAJC30","DSTYK","DYNC2H1","DYNC2I1","DYNC2I2","EIF4H","ELN","ERCC6","ERCC8","FANCF","FANCI","FANCL","FAT4","FBXW11","FGF10","FGFR2","FGFR3","FKBP6","FRAS1","FREM2","GEMIN4","GLI3","GP1BB","GRIP1","GTF2I","GTF2IRD1","GTF2IRD2","H4C3","H4C5","HAAO","HIRA","HMGA2","HNF1B","HRAS","HSPA9","IFT27","IFT80","INTU","JAG1","JMJD1C","KCNJ2","KCNJ5","KCTD1","KIF14","KYNU","LEMD3","LIMK1","LRP4","MBTPS2","MCM5","MDM2","METTL27","MLXIPL","MT-ATP6","MT-ATP8","MUC1","MYOD1","NAA10","NCAPG2","NCF1","NFIA","NIPBL","NODAL","NOTCH2","NRIP1","NSD2","PAX2","PBX1","PDE6D","PIEZO2","PIK3CA","PLXNA1","PPP1R15B","PQBP1","PRIM1","PRMT7","PUF60","RAD21","RARB","REN","RFC2","RFWD3","RMND1","RNU4ATAC","ROBO2","RPS19","RREB1","SALL1","SALL4","SEC24C","SKIC2","SKIC3","SLC30A9","STRA6","STX1A","TBL2","TBX1","TBX18","TBX3","TMEM270","TMEM67","TRRAP","TXNL4A","UFD1","VPS37D","WDR19","WDR35","WNT7B","XRCC4","ZNF699","ZPR1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NEPHRONOPHTHISIS":{"collection":"C5:HPO","systematicName":"M34530","pmid":"","exactSource":"HP:0000090","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000090","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEPHRONOPHTHISIS","geneSymbols":["AHI1","ANKS6","CEP120","CEP164","CEP290","CEP41","CEP83","DCDC2","DYNC2H1","DYNC2I1","DYNC2I2","DYNC2LI1","FAN1","GLIS2","IFT140","IFT172","IFT43","IFT80","INVS","IQCB1","KIAA0753","MAPKBP1","NEK8","NPHP1","NPHP3","NPHP4","RPGRIP1L","SDCCAG8","TMEM138","TMEM216","TMEM67","TRAF3IP1","TRIP11","TTC21B","WDR19","XPNPEP3","ZNF423"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_RENAL_TUBULE_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M34531","pmid":"","exactSource":"HP:0000091","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000091","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RENAL_TUBULE_MORPHOLOGY","geneSymbols":["ACE","ACP5","AGT","AGTR1","ALMS1","ANTXR1","BAZ1B","BCL7B","BCS1L","BSND","BTNL2","BUD23","CEP83","CLCN5","CLCNKB","CLIP2","CPT2","CRB2","CTNS","DCDC2","DNAJC30","DPH1","DPH2","EIF4H","ELN","FAN1","FKBP6","FOXC2","FOXP3","GBE1","GLA","GLIS2","GTF2I","GTF2IRD1","GTF2IRD2","HLA-DRB1","IFT122","INVS","ITGA3","LAMA3","LAMB3","LAMC2","LIMK1","METTL27","MLXIPL","MMUT","MRPL3","MRPS22","MT-ATP6","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND5","MT-ND6","MT-TK","MT-TL1","MT-TV","MT-TW","MUC1","MYO1E","NCF1","NDUFAF6","NPHP1","NPHP3","NPHP4","NPHS1","NUP107","NUP133","OCRL","PKHD1","PMM2","PTPRO","PUS3","REN","RFC2","RPGRIP1L","SHPK","SLC12A3","SLC22A12","SLC2A9","SLC30A9","SLC37A4","SLC41A1","SLC7A7","STX1A","TBL2","TMEM270","TMEM67","TRAF3IP1","TULP3","UMOD","VPS33A","VPS33B","VPS37D","WDR19","XPNPEP3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_GLOMERULAR_SCLEROSIS":{"collection":"C5:HPO","systematicName":"M34533","pmid":"","exactSource":"HP:0000096","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000096","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GLOMERULAR_SCLEROSIS","geneSymbols":["ACTN4","ANKFY1","ANLN","APOL1","ARHGAP24","ARHGDIA","BSND","CD2AP","CLCN5","CLCNKB","COL4A3","COQ2","COQ6","COQ8B","CRB2","DAAM2","DLST","DNMT3A","ELP1","EMP2","EPAS1","FAH","FH","G6PC1","GAPVD1","GON7","INF2","ITGA3","ITGB4","JAG1","KIF1B","KIRREL1","LAGE3","LAMA5","LMX1B","MAGI2","MAX","MDH2","MT-CO1","MT-CO2","MT-CO3","MT-ND1","MT-ND4","MT-ND5","MT-ND6","MT-TF","MT-TH","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TW","MTX2","MUC1","MYO1E","NAA10","NARS2","NF1","NOS1AP","NPHS1","NPHS2","NUP107","NUP133","NUP160","NUP205","NUP37","NUP85","NUP93","OSGEP","PAX2","PLCE1","PLEC","PTPRO","REN","RET","RNU7-1","SCARB2","SDHA","SDHAF2","SDHB","SDHC","SDHD","SEC61A1","SGPL1","SLC12A3","SLC25A11","SLC37A4","SMARCAL1","TBC1D8B","TMEM127","TP53RK","TPRKB","TREX1","TRIM8","TRPC6","VHL","VPS33A","WDR19","WDR4","WDR73","WT1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FOCAL_SEGMENTAL_GLOMERULOSCLEROSIS":{"collection":"C5:HPO","systematicName":"M34534","pmid":"","exactSource":"HP:0000097","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000097","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOCAL_SEGMENTAL_GLOMERULOSCLEROSIS","geneSymbols":["ACTN4","ANKFY1","ANLN","APOL1","ARHGAP24","ARHGDIA","CD2AP","CLCN5","CLCNKB","COL4A3","COQ2","COQ6","COQ8B","CRB2","DAAM2","EMP2","G6PC1","GAPVD1","GON7","INF2","ITGA3","JAG1","KIRREL1","LAGE3","LAMA5","LMX1B","MAGI2","MT-CO1","MT-CO2","MT-CO3","MT-ND1","MT-ND4","MT-ND5","MT-ND6","MT-TF","MT-TH","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TW","MTX2","MYO1E","NARS2","NPHS1","NPHS2","NUP107","NUP133","NUP160","NUP205","NUP37","NUP85","NUP93","PAX2","PLCE1","PTPRO","REN","SCARB2","SEC61A1","SGPL1","SLC12A3","SLC37A4","SMARCAL1","TBC1D8B","TP53RK","TPRKB","TRPC6","VPS33A","WDR4","WDR73","WT1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_TALL_STATURE":{"collection":"C5:HPO","systematicName":"M34535","pmid":"","exactSource":"HP:0000098","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000098","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TALL_STATURE","geneSymbols":["ABAT","ACTA1","ACTA2","AGGF1","AGPAT2","AIP","AKT1","APC2","AR","ARHGEF9","ASXL3","ATP6V1A","ATP6V1E1","BSCL2","C1R","CAMK2A","CAV1","CAVIN1","CBS","CCND1","CDKN1A","CDKN1B","CDKN1C","CDKN2B","CDKN2C","CHD8","CHST14","CIC","CNOT1","COL1A2","COL2A1","COL6A1","COL6A2","COL6A3","CPLX1","CTBP1","CYP19A1","DICER1","DIS3L2","DLG4","DLK1","DNA2","DNMT3A","DSE","EED","EFEMP2","EHMT1","ELN","ESR1","EZH2","FAM20A","FARSB","FBLN5","FBN1","FBN2","FBXO11","FGF3","FGFR3","FIBP","FKBP14","FOS","FOXE3","GLI3","GPC3","GPC4","GPR101","GRIA3","H3-3B","HECTD4","HERC1","HEY2","HNRNPK","HPGD","HRAS","HSPG2","IGF2","IPO8","KANSL1","KBTBD13","KCNQ1","KCNQ1OT1","KIF7","KLHL41","KMT2C","KRAS","LARS2","LETM1","LHCGR","LOX","LRP4","MAN2B1","MAT2A","MC2R","MC4R","MED12","MEG3","MEN1","MFAP5","MRAP","MTM1","MYH11","MYLK","MYPN","NEB","NELFA","NF1","NFIX","NKAP","NNT","NONO","NPR2","NPR3","NRAS","NSD1","NSD2","NSDHL","PAFAH1B1","PDE11A","PDGFRB","PIGA","PIGG","PIGL","PIK3CA","PIK3R2","PLOD1","POLG","POLR3A","POR","PPARG","PRKAR1A","PRKG1","PTCH1","PTEN","PYROXD1","RERE","RET","RNF135","RTL1","SARS1","SETD2","SHANK3","SLC6A8","SMAD2","SMAD3","SMAD4","SMS","SOST","SRY","STAR","STRADA","SUFU","SUZ12","TCF20","TGFB1","TGFB2","TGFB3","TGFBR1","TGFBR2","THSD4","TIMM50","TNNT1","TPM2","TPM3","TRIM32","TUBB4A","TXNRD2","TYMP","UPF3B","WRN","YWHAE","ZDHHC9","ZNF469"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_GLOMERULONEPHRITIS":{"collection":"C5:HPO","systematicName":"M34536","pmid":"","exactSource":"HP:0000099","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000099","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GLOMERULONEPHRITIS","geneSymbols":["ACTN4","ALMS1","ANKFY1","ANLN","APOL1","ARHGAP24","ARHGDIA","BANK1","BLK","C1QA","C3","C4A","C4B","CASP10","CD2AP","CD81","CFHR5","CFI","COL4A3","COL7A1","COPA","COQ8B","CR2","CRB2","CTLA4","DAAM2","DGKE","DNASE1","DNASE1L3","DNASE2","EMP2","ETS1","FAS","FASLG","FCGR2A","FCGR2B","FCGR3B","FOXP3","GAPVD1","HLA-DRB1","IGHG1","IL10","INF2","IRAK1","IRF5","ITGAM","JAK1","JAZF1","KANK2","KIAA0319L","KIRREL1","LAGE3","LMNB2","LMX1B","MAGI2","MECP2","MME","MMP1","MYO1E","NPHS1","NPHS2","NUP107","NUP133","NUP160","NUP205","NUP37","NUP85","NUP93","PAX2","PDCD1","PGM3","PLCE1","PRKCD","PTPN22","PTPRO","PXK","RASGRP1","SLC37A4","SLC7A7","SMARCAL1","SOCS1","SOX18","SPP1","STAT4","TBC1D8B","TLR7","TNFAIP3","TNFSF4","TNIP1","TREX1","TRIM8","TRPC6","UBE2L3","WDR19","WT1","ZAP70","ZNFX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NEPHROTIC_SYNDROME":{"collection":"C5:HPO","systematicName":"M34537","pmid":"","exactSource":"HP:0000100","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000100","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEPHROTIC_SYNDROME","geneSymbols":["ADA","ALG1","ANLN","APOA1","ARHGDIA","ARL6","AVIL","B2M","BBIP1","BBS1","BBS10","BBS12","BBS2","BBS4","BBS5","BBS7","BBS9","C1QBP","C3","CASP10","CCND1","CEP19","CEP290","CFAP418","CHD7","CHST14","COL4A3","COL4A4","COL4A5","COQ2","COQ6","COQ8B","CRB2","CYBC1","DAAM2","DCLRE1C","DGKE","DHX37","DMRT3","EMP2","FGA","FN1","FOXP3","GATA3","GATA4","GLA","GON7","GSN","IFIH1","IFT172","IFT27","IFT74","IL2RG","IL7R","IRAK1","ITGA3","JAK1","KANK2","KIRREL1","LAGE3","LAMA5","LAMB2","LIG4","LMNB2","LMX1B","LYZ","LZTFL1","MAGI2","MAP3K1","MARS1","MEFV","MKKS","MKS1","MME","MYO1E","NEXMIF","NLRP3","NOS1AP","NPHP1","NPHS1","NPHS2","NR0B1","NR5A1","NUP107","NUP133","NUP160","NUP205","NUP85","NUP93","OSGEP","PAX2","PDSS2","PLCE1","PMM2","PRKCD","PTPRO","PUS3","RAG1","RAG2","RASA1","RMRP","SAA1","SAT1","SCAPER","SCARB2","SCLT1","SDCCAG8","SERPINA1","SGPL1","SLC17A5","SLC35A2","SMARCAL1","SNAP29","SOX9","SPP1","SRY","STAT4","TBC1D8B","TP53RK","TPRKB","TRIM32","TRIM8","TRPC6","TTC8","VAMP7","VPS33A","WDPCP","WDR4","WDR73","WT1","WWOX","YRDC","ZAP70","ZFPM2","ZNF592","ZNFX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_POLYURIA":{"collection":"C5:HPO","systematicName":"M34538","pmid":"","exactSource":"HP:0000103","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000103","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POLYURIA","geneSymbols":["AQP2","ATP1A1","AVPR2","BSND","CASR","CAV1","CLCNKA","CLCNKB","CLDN10","CLDN16","CTNS","CYP24A1","FAM20A","HNF1A","IL6","ITPR3","KCNJ1","KCNJ10","KCNJ5","KL","LZTFL1","MAGED2","NPHP1","NPHP3","NPHP4","PLVAP","PTPN22","RRAGD","SARS2","SLC12A1","SLC12A3","SLC34A1","SLC41A1","SLC5A2","SON","TMEM67"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RENAL_AGENESIS":{"collection":"C5:HPO","systematicName":"M34539","pmid":"","exactSource":"HP:0000104","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000104","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RENAL_AGENESIS","geneSymbols":["ADA2","ALDH18A1","ALKBH8","ANKLE2","ANKRD17","ANOS1","APC2","ASPM","ASXL2","ATN1","ATRX","CCDC141","CCNQ","CDC42","CDK5RAP2","CDK6","CDON","CENPE","CENPJ","CEP135","CEP152","CEP63","CHD7","CIT","COG6","COPB2","CPLANE1","CTU2","DCC","DHCR24","DHCR7","DISP1","DLL1","DSTYK","DUSP6","DYRK1A","ELN","ERCC6","ERCC8","EYA1","FAM149B1","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCL","FBLN5","FEZF1","FGF17","FGF20","FGF8","FGFR1","FGFR2","FLRT3","FOXH1","FREM1","FREM2","FUZ","GAS1","GATA1","GATA3","GDF6","GFRA1","GLI2","GLI3","GNB2","GREB1L","GRIP1","H4C9","HEATR3","HESX1","HNF1B","HOXD13","HS2ST1","HS6ST1","IDH1","IL17RD","INSL3","ITGA8","KCTD1","KIAA0753","KIF14","KIF7","KNL1","KNSTRN","KYNU","LMBRD1","LRP4","MBTPS2","MCM7","MCPH1","METTL5","MFSD2A","MKS1","NADSYN1","NCAPD3","NDNF","NODAL","NSD1","NSDHL","NUP37","OFD1","PBX1","PDE6D","PHC1","PHGDH","PIEZO2","PIK3C2A","PIK3CD","POR","PPFIBP1","PPP2R1A","PPP2R3C","PRKAR1A","PROK2","PROKR2","PTCH1","PTPN11","PUF60","PYCR2","RET","ROBO1","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS7","RTTN","SALL4","SARS1","SASS6","SDCCAG8","SEMA3A","SETD2","SF3B2","SF3B4","SH2B1","SHH","SIX1","SIX3","SON","SOX10","SPRY4","SRCAP","STIL","STS","SUFU","TACR3","TAF13","TBC1D24","TBX1","TBXT","TCTN3","TDGF1","TFAP2A","TGIF1","THOC6","TMCO1","TMEM216","TMEM67","TNXB","TOPORS","TP63","TRAPPC10","TRAPPC14","TRPV6","TSR2","TXNL4A","VANGL1","WARS1","WBP11","WDR11","WDR62","WLS","WNT3","WNT4","WNT9B","XRCC4","ZIC2","ZIC3","ZMYM2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ENLARGED_KIDNEY":{"collection":"C5:HPO","systematicName":"M34540","pmid":"","exactSource":"HP:0000105","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000105","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ENLARGED_KIDNEY","geneSymbols":["ADNP","ALG5","ALG9","ANKS6","BICC1","BMPER","CD81","CDKN1C","CILK1","CPT2","DICER1","DNAJB11","DYNC2H1","DZIP1L","FAH","FANCB","FIBP","G6PC1","GANAB","GNPTAB","GPC3","GPC4","IFT140","IGF2","INSR","INVS","KCNQ1","KCNQ1OT1","MYRF","NAA10","NEK8","NPHP3","PIK3CA","PKD1","PKD2","PKHD1","PRKAG2","SAA1","SLC29A3","SLC37A4","TCTN2","TRPV6","TULP3","VPS33A","VPS45","WT1","ZIC3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RENAL_CYST":{"collection":"C5:HPO","systematicName":"M34541","pmid":"","exactSource":"HP:0000107","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000107","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RENAL_CYST","geneSymbols":["ABCC8","ACTG2","AKR1D1","AKT1","ALG5","ALG8","ALG9","AMER1","ANKS6","AP2S1","APPL1","ARL3","ARL6","ARL6IP6","ARVCF","B3GLCT","B4GAT1","B9D1","B9D2","BAZ1B","BBIP1","BBS1","BBS10","BBS12","BBS2","BBS4","BBS5","BBS7","BBS9","BCL7B","BICC1","BLK","BMPER","BRD4","BUB1","BUB1B","BUB3","BUD23","CASZ1","CC2D2A","CCND1","CD96","CDC73","CDKN1C","CEL","CEP120","CEP19","CEP290","CEP55","CEP57","CFAP418","CHRM3","CLIP2","CLPB","COL4A1","COMT","CPT2","CRB2","CSPP1","CWC27","DACT1","DCDC2","DHCR7","DHX16","DNAJB11","DNAJC30","DYNC2H1","DYNC2I1","DYNC2I2","DYRK1A","DZIP1L","EIF4H","ELN","ESCO2","ETFA","ETFB","ETFDH","EYA1","FAN1","FIBP","FKBP6","FLCN","FLI1","FLNB","FRAS1","FREM2","GABRD","GANAB","GATA3","GCK","GLI3","GLIS3","GNA11","GP1BB","GPC3","GPC4","GREB1L","GRIP1","GTF2I","GTF2IRD1","GTF2IRD2","HDAC4","HDAC8","HIRA","HNF1A","HNF1B","HNF4A","HOXD13","HSD17B4","HSPG2","IFNG","IFT140","IFT172","IFT27","IFT43","IFT74","IFT80","IGF2","INPP5E","INS","INVS","JAG1","JAM3","JMJD1C","KAT6B","KCNAB2","KCNJ11","KCNQ1","KCNQ1OT1","KIAA0586","KLF11","LAMA3","LAMB3","LAMC2","LHX1","LIG1","LIMK1","LMOD1","LRP5","LUZP1","LZTFL1","MAPKBP1","MBTPS2","MCTP2","METTL27","MKKS","MKS1","MLXIPL","MMP23B","MPDU1","MPI","MSH3","MT-CYB","MUC1","MYH11","MYLK","NAA10","NCAPG2","NCF1","NEK1","NEK8","NEUROD1","NIPBL","NOTCH2","NPHP1","NPHP3","NPHP4","NRIP1","NXN","OCRL","OFD1","PAX1","PAX2","PAX4","PBX1","PDPN","PDX1","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PIEZO2","PIGN","PIGQ","PIGT","PKD1","PKD2","PKHD1","PMM2","PORCN","PRDM16","PRKCSH","PRKCZ","PTEN","PUF60","RAD21","RAD51C","RERE","RFC2","RMND1","RNU4ATAC","ROR2","RPGRIP1","RPGRIP1L","RREB1","RSPO2","SALL1","SCAPER","SCLT1","SDCCAG8","SEC24C","SEC61A1","SEC63","SETBP1","SF3B2","SH2B1","SHANK3","SIX1","SIX5","SKI","SKIC2","SKIC3","SMC1A","SMC3","SNRPB","SPEN","SPOP","SRCAP","STK11","STX1A","TBC1D24","TBL2","TBX1","TCTN1","TCTN2","TCTN3","TFAP2A","TKT","TMEM107","TMEM138","TMEM216","TMEM218","TMEM231","TMEM237","TMEM260","TMEM270","TMEM67","TRIM32","TRIP11","TRIP13","TRRAP","TSC1","TSC2","TTC8","TULP3","TXNDC15","UBE4B","UFD1","VHL","VPS37D","WDPCP","WDR35","WNT3","XPNPEP3","ZEB2","ZNF148","ZNF423"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RENAL_CORTICOMEDULLARY_CYSTS":{"collection":"C5:HPO","systematicName":"M34542","pmid":"","exactSource":"HP:0000108","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000108","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RENAL_CORTICOMEDULLARY_CYSTS","geneSymbols":["CRB2","DCDC2","MUC1","NPHP1","NPHP3","NPHP4","TMEM67","XPNPEP3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RENAL_DYSPLASIA":{"collection":"C5:HPO","systematicName":"M34543","pmid":"","exactSource":"HP:0000110","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000110","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RENAL_DYSPLASIA","geneSymbols":["AMMECR1","ARX","BICC1","BNC2","CASK","CDKL5","CEP55","COQ7","CPLANE1","CPT2","CSPP1","DMXL2","DYNC2H1","EYA1","FIBP","FKRP","FKTN","GATA3","GLI3","GNAO1","GRB10","GREB1L","GRIN1","GRM7","HNF1B","IFT140","INTS1","ITGA6","ITGA8","ITGB4","JAG1","KCNA1","KIAA0586","LARGE1","MBTPS2","MYCN","NEUROD2","NPHP3","PAX2","PBX1","PIEZO2","PIGN","PIGP","PIGQ","PIGT","PLEC","PLVAP","PNKP","POMT1","POMT2","RMND1","SALL1","SCN1B","SCN2A","SDCCAG8","SHANK3","SIK1","SIX1","SIX5","SLC25A22","SLC32A1","SMO","SON","TBX1","TBX18","TP63","TRIM8","TTC8","USP9X","WNT4","ZNF148","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NEPHROPATHY":{"collection":"C5:HPO","systematicName":"M34544","pmid":"","exactSource":"HP:0000112","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000112","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEPHROPATHY","geneSymbols":["ABCC8","ADA2","APOA1","APPL1","B2M","BLK","CC2D2A","CCND1","CEL","CEP120","CEP290","CISD2","CLDN19","COL4A5","COL4A6","CPOX","DYNC2H1","DYNC2I1","DYNC2I2","DYNC2LI1","FAM20A","FGA","FOXI1","GCK","GLA","GON7","HIC1","HNF1A","HNF4A","HPRT1","IFT140","IFT172","IFT80","INPP5E","INS","KCNJ10","KCNJ11","KIAA0753","KLF11","LAGE3","LYZ","MAFB","MEFV","MMACHC","MT-CO1","MT-CO2","MT-CO3","MT-ND1","MT-ND4","MT-ND5","MT-ND6","MT-TF","MT-TH","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TW","MYH9","NEUROD1","NLRP3","NOD2","NPHP1","NUP107","NUP133","OSGEP","PAFAH1B1","PAX4","PAX6","PDX1","PRDX1","PRODH","RPGRIP1L","SAA1","SCARB2","SCNN1A","SCNN1B","SCNN1G","SEC61A1","SLC26A4","SLC2A2","SLC5A2","SMARCAL1","TMEM138","TMEM216","TMEM231","TMEM237","TMEM67","TP53RK","TPRKB","TREX1","TTC21B","TTR","UMOD","VIPAS39","VPS33B","WAS","WDR19","WDR4","WDR73","WFS1","WIPF1","WT1","YRDC","YWHAE","ZNF423"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_POLYCYSTIC_KIDNEY_DYSPLASIA":{"collection":"C5:HPO","systematicName":"M34545","pmid":"","exactSource":"HP:0000113","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000113","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POLYCYSTIC_KIDNEY_DYSPLASIA","geneSymbols":["ALG9","ANKS6","ARVCF","CDC73","COMT","CPT2","DNAJB11","DYNC2H1","DZIP1L","ESCO2","ETFA","ETFB","ETFDH","EYA1","GANAB","GATA3","GLIS3","GP1BB","HIRA","IFNG","IFT43","JMJD1C","KIAA0586","MKKS","MKS1","NAA10","NEK1","NOTCH2","NPHP3","OFD1","PEX12","PEX2","PEX5","PKD1","PKD2","PKHD1","RNU4ATAC","RREB1","SEC24C","SHANK3","SIX1","SKIC2","SKIC3","SRCAP","TBX1","TCTN2","TMEM107","TMEM218","TMEM231","TRIP11","TSC1","TSC2","TXNDC15","UFD1","WDR35","ZNF423"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PROXIMAL_TUBULOPATHY":{"collection":"C5:HPO","systematicName":"M34546","pmid":"","exactSource":"HP:0000114","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000114","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROXIMAL_TUBULOPATHY","geneSymbols":["ALDOB","CLCN5","COG6","CTNS","ETFA","ETFB","ETFDH","FOXRED1","HBB","LRP2","MPI","MT-CO1","MT-CO2","MT-CO3","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND5","MT-ND6","MT-TF","MT-TH","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TW","NDUFA1","NDUFA11","NDUFA6","NDUFAF1","NDUFAF2","NDUFAF3","NDUFAF4","NDUFAF5","NDUFAF8","NDUFB10","NDUFB11","NDUFB3","NDUFB9","NDUFS1","NDUFS2","NDUFS3","NDUFS4","NDUFS6","NDUFS7","NDUFS8","NDUFV1","NDUFV2","NUBPL","OCRL","PMM2","POLRMT","RRM2B","SLC34A1","TIMMDC1","TMEM126B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RENAL_PHOSPHATE_WASTING":{"collection":"C5:HPO","systematicName":"M34547","pmid":"","exactSource":"HP:0000117","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000117","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RENAL_PHOSPHATE_WASTING","geneSymbols":["CLCN5","CTNS","DMP1","EHHADH","ENPP1","FGF23","GATM","GNAS","INPPL1","NDUFAF6","NHERF1","PHEX","SLC34A1","SLC34A3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NEPHROCALCINOSIS":{"collection":"C5:HPO","systematicName":"M34548","pmid":"","exactSource":"HP:0000121","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000121","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEPHROCALCINOSIS","geneSymbols":["ABCC6","ADAT3","AGXT","AIRE","ALPL","AMMECR1","ATP1A1","ATP6V0A4","ATP6V1B2","ATP6V1E1","BAZ1B","BCL7B","BSND","BTNL2","BUD23","CASR","CDC73","CDKN1C","CLCN5","CLCNKA","CLCNKB","CLDN16","CLDN19","CLIP2","CLPB","COL4A3","CTNS","CYP24A1","DNAJC21","DNAJC30","DYNC2I2","EIF4H","ELN","ENPP1","FAH","FAM20A","FGF23","FKBP6","FUT8","GALNT3","GATA3","GCM2","GEMIN4","GNA11","GRHPR","GTF2I","GTF2IRD1","GTF2IRD2","HLA-DRB1","HNF4A","HOGA1","HPRT1","HSD11B2","IGF2","INSR","KCNJ1","KCNQ1","KCNQ1OT1","LIMK1","MAGED2","MEFV","MEN1","METTL27","MLXIPL","MYO5B","NCF1","OCRL","OXGR1","PEX3","PIGT","PIK3C2A","POLRMT","PTH","PTH1R","RFC2","ROR2","RRAGD","SBDS","SLC12A1","SLC1A2","SLC2A2","SLC34A1","SLC34A3","SLC37A4","SLC4A1","SRCAP","SRP54","STRADA","STX1A","STX3","TBC1D24","TBL2","TMEM270","TOR1A","TRNT1","TTC26","VIPAS39","VPS33B","VPS37D","ZNF687"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_UNILATERAL_RENAL_AGENESIS":{"collection":"C5:HPO","systematicName":"M34549","pmid":"","exactSource":"HP:0000122","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000122","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UNILATERAL_RENAL_AGENESIS","geneSymbols":["ALDH18A1","ALKBH8","ANKLE2","ANKRD17","ANOS1","ASPM","ASXL2","ATN1","CDC42","CDK5RAP2","CDK6","CENPE","CENPJ","CEP135","CEP152","CEP63","CIT","COG6","COPB2","CTU2","DHCR7","DSTYK","DYRK1A","ELN","ERCC6","ERCC8","EYA1","FANCL","FBLN5","FREM1","FREM2","GATA3","GDF6","GLI3","GNB2","H4C9","HNF1B","HS2ST1","IDH1","KCTD1","KIF14","KNL1","KNSTRN","KYNU","LMBRD1","MBTPS2","MCM7","MCPH1","METTL5","MFSD2A","NADSYN1","NCAPD3","NSDHL","NUP37","PBX1","PHC1","PIK3CD","POR","PPFIBP1","PPP2R1A","PPP2R3C","PRKAR1A","PROKR2","PTPN11","PUF60","PYCR2","ROBO1","RPL26","RTTN","SARS1","SASS6","SF3B4","SIX1","SON","STIL","STS","TAF13","TBX1","TBXT","THOC6","TMCO1","TMEM67","TNXB","TRAPPC10","TRAPPC14","TRPV6","TXNL4A","WARS1","WBP11","WDR62","WNT4","XRCC4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NEPHRITIS":{"collection":"C5:HPO","systematicName":"M34550","pmid":"","exactSource":"HP:0000123","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000123","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEPHRITIS","geneSymbols":["ACTN4","ALDH18A1","ALG5","ALG9","ALMS1","ANKFY1","ANLN","APOL1","ARHGAP24","ARHGDIA","BANK1","BICC1","BLK","BNC2","C1QA","C3","C4A","C4B","CASP10","CD151","CD2AP","CD81","CFHR5","CFI","COL4A3","COL4A4","COL4A5","COL7A1","COPA","COQ8B","CR2","CRB2","CTLA4","DAAM2","DGKE","DNAJB11","DNASE1","DNASE1L3","DNASE2","EFEMP2","ELN","EMP2","ETS1","FAS","FASLG","FBLN5","FCGR2A","FCGR2B","FCGR3B","FOXP3","GANAB","GAPVD1","HLA-DRB1","HMOX1","HOXA13","IFT140","IGHG1","IL10","INF2","IRAK1","IRF5","ITGAM","JAK1","JAZF1","KANK2","KCTD1","KIAA0319L","KIRREL1","LAGE3","LMNB2","LMX1B","LTBP1","MAGI2","MECP2","MED12","MME","MMP1","MYCN","MYH11","MYH9","MYO1E","NPHS1","NPHS2","NUP107","NUP133","NUP160","NUP205","NUP37","NUP85","NUP93","PAX2","PDCD1","PGM3","PKD1","PKD2","PLCE1","PLG","PRKCD","PTPN22","PTPRO","PXK","RASGRP1","SAT1","SHANK3","SLC37A4","SLC7A7","SMARCAL1","SOCS1","SOX18","SPP1","STAT4","TBC1D8B","TLR7","TNFAIP3","TNFSF4","TNIP1","TREX1","TRIM8","TRPC6","UBE2L3","UMOD","VPS33A","WDR19","WT1","XDH","ZAP70","ZNFX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RENAL_TUBULAR_DYSFUNCTION":{"collection":"C5:HPO","systematicName":"M34551","pmid":"","exactSource":"HP:0000124","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000124","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RENAL_TUBULAR_DYSFUNCTION","geneSymbols":["ABCC8","ALDOB","ATP6V0A4","ATP6V1B1","ATP7B","BCS1L","BSND","CA2","CAD","CEP290","CLCN5","CLCNKA","CLCNKB","CLDN16","CNNM2","COA8","COG6","CPT1A","CTNS","EHHADH","EPG5","ETFA","ETFB","ETFDH","FAH","FAM20A","FBXL4","FOXRED1","GALNT3","GATA3","GATM","GCK","GNAS","HBB","HNF1B","HNF4A","INS","JAG1","KCNJ11","KCNJ2","KCNJ5","KYNU","LRP2","MMUT","MPI","MT-CO1","MT-CO2","MT-CO3","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND5","MT-ND6","MT-TF","MT-TH","MT-TL1","MT-TN","MT-TQ","MT-TS1","MT-TS2","MT-TW","NADK2","NDUFA1","NDUFA11","NDUFA6","NDUFAF1","NDUFAF2","NDUFAF3","NDUFAF4","NDUFAF5","NDUFAF6","NDUFAF8","NDUFB10","NDUFB11","NDUFB3","NDUFB9","NDUFS1","NDUFS2","NDUFS3","NDUFS4","NDUFS6","NDUFS7","NDUFS8","NDUFV1","NDUFV2","NOTCH2","NPHP1","NUBPL","OCRL","PC","PDX1","PEX19","PHEX","PHKA2","PHKB","PHKG2","PIGA","PMM2","POLRMT","RMND1","RRM2B","SLC12A3","SLC2A2","SLC34A1","SLC34A3","SLC4A1","SLC4A4","SLC5A2","STAT3","SURF1","TAOK1","TIMMDC1","TMEM126B","TRMT5","UQCC2","VIPAS39","VPS33B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PELVIC_KIDNEY":{"collection":"C5:HPO","systematicName":"M34552","pmid":"","exactSource":"HP:0000125","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000125","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PELVIC_KIDNEY","geneSymbols":["BAZ1B","BCL7B","BUD23","CCNQ","CLIP2","DDX6","DNAJC30","DYRK1A","EIF4H","ELN","FANCD2","FANCF","FGFR1","FKBP6","GNB2","GTF2I","GTF2IRD1","GTF2IRD2","LIMK1","METTL27","MLXIPL","NCF1","PUF60","RAD51","RFC2","RTTN","SLX4","STRA6","STX1A","TBL2","TMEM270","VPS37D","WAC","ZEB2","ZMYM2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RENAL_SALT_WASTING":{"collection":"C5:HPO","systematicName":"M34553","pmid":"","exactSource":"HP:0000127","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000127","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RENAL_SALT_WASTING","geneSymbols":["BSND","CLCNKA","CLCNKB","CYP11A1","CYP11B1","CYP11B2","CYP21A2","HSD3B2","KCNJ1","KCNJ10","KCNJ16","MC2R","MRAP","MUC1","NNT","NR0B1","SARS2","SCNN1A","SLC12A1","STAR","TXNRD2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RENAL_POTASSIUM_WASTING":{"collection":"C5:HPO","systematicName":"M34554","pmid":"","exactSource":"HP:0000128","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000128","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RENAL_POTASSIUM_WASTING","geneSymbols":["ATP1A1","CLCNKB","KCNJ1","KCNJ10","SLC12A1","SLC12A3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_UTERUS":{"collection":"C5:HPO","systematicName":"M34555","pmid":"","exactSource":"HP:0000130","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000130","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_UTERUS","geneSymbols":["ADH5","AKT1","ALG9","APC","AR","ARID1B","ARVCF","AURKA","AXIN1","AXIN2","B3GLCT","BAX","BMP15","BMPR1A","BMPR1B","BNC1","BRAF","BRCA1","BRCA2","BRD4","BRIP1","BUB1","BUB1B","C14orf39","CCND1","CCNQ","CDC73","CDH1","CDKN1B","CHD7","CHEK2","CHRM3","CLPP","COL1A1","COL3A1","COL4A5","COL4A6","COL5A1","COL5A2","COMT","COQ6","COX7B","CPLX1","CTBP1","CTNNB1","CXCR4","CYB5A","CYP11A1","CYP11B1","CYP17A1","DACT1","DCAF17","DCC","DHCR7","DHH","DHX37","DLC1","DUSP6","DYNC2H1","DYNC2I1","DYNC2I2","ELN","EP300","EPCAM","ERAL1","ERCC4","ESCO2","ESR1","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FGF10","FGF17","FGF8","FGFR1","FGFR2","FGFR3","FGFRL1","FH","FIGLA","FLCN","FLI1","FOXF1","FOXL2","FRAS1","FREM2","FSHR","FZD2","GATA2","GATA3","GLI3","GNB2","GNRH1","GNRHR","GP1BB","GREB1L","GREM1","GRIP1","HCCS","HDAC8","HIRA","HNF1B","HOXA13","HS6ST1","HYLS1","IFT80","INTU","IPO8","IRF6","ITGA8","JMJD1C","KIF14","KISS1","KISS1R","KLLN","LARS2","LETM1","LRP2","LZTR1","MAD1L1","MAD2L2","MCC","MID1","MINPP1","MKS1","MLH1","MLH3","MNX1","MRPS22","MSH2","MSH3","MSH4","MSH5","MSH6","MYRF","NAB2","NDP","NDUFB11","NF2","NHLH2","NIN","NIPBL","NR5A1","NRAS","NSD2","NSMF","NTHL1","NUP107","PALB2","PAX6","PDGFRL","PHGDH","PIGN","PIK3CA","PLA2G2A","PLG","PMS2","POLD1","POLE","POLR3H","POR","PPP1R12A","PPP2R1A","PPP2R3C","PROK2","PROKR2","PSMC3IP","PTEN","PTPN12","PTPRJ","RAD21","RAD51","RAD51C","RAD54B","RARB","RBM8A","RFWD3","RIPK4","RPS20","RPS6KA3","RREB1","SALL1","SDHB","SDHC","SDHD","SEC23B","SEC24C","SEMA4A","SETBP1","SF3B4","SLC6A17","SLX4","SMAD3","SMARCB1","SMC1A","SMC3","SOHLH1","SOX11","SOX9","SPECC1L","SPIDR","SPRY4","SRC","SRY","STAT6","STK11","STRA6","TAC3","TACR3","TBX1","TBX3","TGFBR1","TGFBR2","THOC6","TLR2","TNXB","TOE1","TP53","TP63","TXNDC15","UBE2T","UFD1","USF3","WDR11","WDR35","WNT4","WNT7A","WNT7B","WT1","XRCC2","ZSWIM7"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_UTERINE_LEIOMYOMA":{"collection":"C5:HPO","systematicName":"M47027","pmid":"","exactSource":"HP:0000131","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000131","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UTERINE_LEIOMYOMA","geneSymbols":["CDC73","COQ6","FGFR3","FH","LZTR1","MSH3","NF2","SMARCB1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MENORRHAGIA":{"collection":"C5:HPO","systematicName":"M34556","pmid":"","exactSource":"HP:0000132","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000132","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MENORRHAGIA","geneSymbols":["BLOC1S3","BLOC1S5","DIAPH1","DTNBP1","F10","F11","F13A1","F13B","F2","F5","F7","F8","FLI1","GP1BA","GP1BB","GP6","GP9","HPS4","HPS5","ITGA2B","ITGB3","LMAN1","MCFD2","MYH9","NBEAL2","PLAU","PRKACG","PRLR","RASGRP2","SERPINE1","SLC37A4","SLFN14","VWF"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_GONADAL_DYSGENESIS":{"collection":"C5:HPO","systematicName":"M34557","pmid":"","exactSource":"HP:0000133","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000133","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GONADAL_DYSGENESIS","geneSymbols":["AARS1","BMP15","BNC1","CARS1","DHH","DHX37","DMRT3","ERCC2","ERCC3","FSHR","GATA4","GTF2E2","GTF2H5","HSD17B4","MAP3K1","MINPP1","MPLKIP","MRPS22","MSH4","NR0B1","NR5A1","NUP107","POLR3H","PPP1R12A","PPP2R3C","PSMC3IP","RNF113A","RXYLT1","SOX9","SPIDR","SRY","TARS1","TOE1","TWNK","VAMP7","WT1","WWOX","ZFPM2","ZSWIM7"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FEMALE_HYPOGONADISM":{"collection":"C5:HPO","systematicName":"M34558","pmid":"","exactSource":"HP:0000134","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000134","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FEMALE_HYPOGONADISM","geneSymbols":["AIP","AIRE","ATM","BMP4","CDH23","CHD7","DUSP6","FGF17","FGF8","FGFR1","FSHB","GNRH1","GNRHR","HS6ST1","KISS1","KISS1R","LMNA","MEN1","NHLH2","NSMF","PRLR","PROK2","PROKR2","SPRY4","TAC3","TACR3","WDR11","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPOGONADISM":{"collection":"C5:HPO","systematicName":"M34559","pmid":"","exactSource":"HP:0000135","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000135","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOGONADISM","geneSymbols":["ABCA4","ABCD1","AGBL5","AHI1","AHR","AHSG","AIP","AIRE","AKT1","ALG1","ALMS1","ALX4","AMACR","ANAPC1","ANK1","ANOS1","ANTXR1","AR","ARHGEF18","ARL2BP","ARL3","ARL6","ARSL","ATM","ATP5F1A","ATP5F1D","ATP5F1E","ATP5MK","ATPAF1","ATPAF2","ATRX","AXL","BAP1","BAZ1B","BBIP1","BBS1","BBS10","BBS12","BBS2","BBS4","BBS5","BBS7","BBS9","BCL7B","BCS1L","BEST1","BMP15","BMP2","BMP4","BMP6","BMPR1B","BRAF","BRCA1","BRCA2","BRCC3","BRIP1","BUD23","CA4","CAMKMT","CASZ1","CBL","CBX2","CC2D2A","CCDC141","CCDC28B","CDH23","CDHR1","CDKN1C","CEP19","CEP290","CERKL","CFAP418","CHD4","CHD7","CHRNG","CISD2","CLIP2","CLPP","CLRN1","CNBP","CNGA1","CNGB1","COL25A1","COQ2","CPE","CRB1","CRX","CTDP1","CTNNB1","CTNS","CUL4B","CYB5A","CYP17A1","CYP19A1","DCAF17","DCC","DDB2","DHDDS","DHH","DHX37","DHX38","DMPK","DMRT1","DMRT3","DMXL2","DNAJC30","DNAL4","DNM1L","DUSP6","EIF2S3","EIF4H","ELN","ERCC1","ERCC2","ERCC3","ERCC4","ERCC5","ERCC6","ERCC8","EYS","FAM161A","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FEZF1","FGF17","FGF8","FGFR1","FKBP6","FLRT3","FMR1","FOXA2","FOXL2","FSCN2","FSHB","GABRD","GALK1","GALT","GATA4","GJB2","GLI2","GNAS","GNRH1","GNRHR","GPR101","GTF2I","GTF2IRD1","GTF2IRD2","GUCA1B","HAMP","HBB","HDAC8","HERC2","HESX1","HFE","HGSNAT","HJV","HS6ST1","HSD17B3","HSPG2","IDH3A","IDH3B","IER3IP1","IFT140","IFT172","IFT27","IFT74","IFT88","IGF1","IL17RD","IMPDH1","IMPG1","IMPG2","INPP5K","ITGB6","KCNAB2","KIAA1549","KIF21A","KISS1","KISS1R","KIZ","KLHL7","KRAS","LAS1L","LEP","LEPR","LGR4","LHB","LHCGR","LHX3","LHX4","LIG3","LIMK1","LMNA","LRAT","LSS","LUZP1","LZTFL1","LZTR1","MAD2L2","MAGEL2","MAK","MAP2K1","MAP3K1","MDM2","MECP2","MEN1","MERTK","METTL27","MGME1","MKKS","MKRN3","MKS1","MLXIPL","MMP23B","MRAS","MRE11","MRPS7","MT-ATP6","MT-ATP8","MT-CO1","MT-CO2","MT-CO3","MT-ND1","MT-ND4","MT-ND5","MT-ND6","MT-TF","MT-TH","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TW","MYH3","NCF1","NDN","NDNF","NECTIN1","NEK2","NF2","NHLH2","NPAP1","NPHP1","NR0B1","NR2E3","NR5A1","NRAS","NRL","NSMF","NTN1","NUP107","OCA2","OFD1","OPA1","OTX2","PALB2","PCARE","PCSK1","PDE4D","PDE6A","PDE6B","PDE6G","PDGFB","PDPN","PEX1","PEX6","PHF6","PHGDH","PHOX2A","PIK3CA","PLXND1","PMM2","PNPLA6","POLA1","POLD1","POLE","POLG","POLR1C","POLR3A","POLR3B","POLR3K","POMGNT1","POU1F1","PPM1B","PRCD","PRDM13","PRDM16","PREPL","PRKAR1A","PRKCZ","PRLR","PROK2","PROKR2","PROM1","PROP1","PRORP","PRPF3","PRPF31","PRPF4","PRPF6","PRPF8","PRPH2","PTCH1","PTCH2","PTDSS1","PTPN11","PWAR1","PWRN1","RAB3GAP1","RAB3GAP2","RAD51","RAD51C","RAF1","RASA2","RBM28","RBP3","RDH12","RECQL4","REEP6","RERE","REV3L","RFC2","RFWD3","RGR","RHO","RIN2","RIT1","RLBP1","RNF216","RNU4ATAC","ROM1","RP1","RP1L1","RP2","RP9","RPE65","RPGR","RRAS","RRAS2","RRM2B","SAG","SAMD9","SCAPER","SCLT1","SCP2","SDCCAG8","SEMA3A","SEMA3E","SEMA4A","SGPL1","SIL1","SIM1","SIX6","SKI","SLC29A3","SLC39A4","SLC3A1","SLC7A14","SLX4","SMAD4","SMARCB1","SMARCE1","SMCHD1","SMO","SNAP29","SNORD115-1","SNORD116-1","SNRNP200","SNRPN","SOS1","SOS2","SOX10","SOX2","SOX3","SOX9","SPATA7","SPEN","SPRED2","SPRTN","SPRY4","SQSTM1","SRA1","SRY","STEAP3","STS","STUB1","STX1A","SUFU","TAC3","TACR3","TBL2","TCF12","TERT","TFR2","TGFB1","TMEM270","TOPORS","TP53","TP63","TRAF3IP1","TRAF7","TRIM32","TTC8","TUB","TUBA1A","TUBB2B","TUBB3","TULP1","TWNK","TYMP","UBE2T","UBE4B","USH2A","USP7","VAMP7","VPS37D","VPS4A","WDPCP","WDR11","WFS1","WRN","WT1","WWOX","XPA","XPC","XRCC2","ZBTB20","ZFPM2","ZMPSTE24","ZNF408","ZNF513"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_OVARY":{"collection":"C5:HPO","systematicName":"M34561","pmid":"","exactSource":"HP:0000137","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000137","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_OVARY","geneSymbols":["AGPAT2","AKT1","AKT2","ALG9","ALMS1","ANTXR2","AR","ARL6","ATM","BARD1","BAZ1B","BBIP1","BBS1","BBS10","BBS12","BBS2","BBS4","BBS5","BBS7","BBS9","BCL7B","BMP15","BMPR1A","BNC1","BRCA1","BRCA2","BRIP1","BSCL2","BUD23","C14orf39","CAV1","CAVIN1","CBX2","CCDC28B","CDH1","CDKN2A","CEP19","CEP290","CFAP418","CHD7","CHEK2","CIDEC","CLIP2","CLPP","CORIN","CTNNB1","CYB5A","CYP11B1","CYP17A1","CYP19A1","DCAF17","DHH","DHX37","DICER1","DMRT1","DMRT3","DNAJC30","DUSP6","EIF4H","ELN","EPCAM","ERAL1","ERBB2","ESR1","EWSR1","F7","FAN1","FGF17","FGF8","FGFR1","FGFR2","FIGLA","FKBP6","FLI1","FLT1","FOS","FOXE1","FOXL2","FSHR","GATA4","GNAS","GNRH1","GNRHR","GTF2I","GTF2IRD1","GTF2IRD2","HARS2","HFM1","HNF1A","HS6ST1","IDH1","IDH2","IFT172","IFT27","IFT74","INSR","KEAP1","KISS1","KISS1R","KLLN","KRAS","LARS2","LEP","LEPR","LHB","LIMK1","LIPE","LMNA","LMNB2","LZTFL1","MAP3K1","MBD4","MCM8","MDM2","METTL27","MID1","MKKS","MKS1","MLH1","MLH3","MLXIPL","MMP14","MMP2","MRE11","MRPS22","MSH2","MSH3","MSH4","MSH6","MSX1","MT-CYB","MYC","NBN","NCF1","NDNF","NHLH2","NOBOX","NPHP1","NR0B1","NR5A1","NSMF","NTHL1","NUP107","OFD1","OPCML","PALB2","PALLD","PANX1","PATL2","PAX6","PDE11A","PHKA2","PHKB","PHKG2","PIK3CA","PIK3R1","PLG","PLIN1","PMM2","PMS1","PMS2","POLR3H","POR","PPARG","PPP1R12A","PRKAR1A","PRKN","PRLR","PROK2","PROKR2","PSMC3IP","PTCH1","PTEN","PTPN11","RABL3","RAD50","RAD51","RAD51C","RAD51D","RELA","RFC2","RNF43","RPS20","SCAPER","SCLT1","SDCCAG8","SDHB","SDHC","SDHD","SEC23B","SEMA4A","SETBP1","SETD2","SLC37A4","SMAD4","SOX3","SOX9","SPIDR","SPRED1","SPRY4","SRY","STAG3","STK11","STOX1","STX1A","TAC3","TACR3","TBL2","TBX1","TGFBR2","TMEM270","TP53","TP63","TRIM32","TRPV6","TTC8","TUBB8","USF3","VAMP7","VPS37D","WDPCP","WDR11","WEE2","WNT10A","WNT4","WRN","WT1","WWOX","ZFPM2","ZFTA","ZPR1","ZSWIM7"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_OVARIAN_CYST":{"collection":"C5:HPO","systematicName":"M34562","pmid":"","exactSource":"HP:0000138","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000138","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OVARIAN_CYST","geneSymbols":["AGPAT2","AKT1","AKT2","ALMS1","ANTXR2","ATM","BAZ1B","BCL7B","BSCL2","BUD23","CAV1","CAVIN1","CBX2","CIDEC","CLIP2","CORIN","CYB5A","CYP11B1","CYP17A1","CYP19A1","DHH","DHX37","DMRT1","DNAJC30","EIF4H","ELN","ESR1","F7","FKBP6","FLT1","FOS","FOXL2","FSHR","GNAS","GTF2I","GTF2IRD1","GTF2IRD2","HNF1A","INSR","KLLN","LHB","LIMK1","LIPE","LMNA","LMNB2","MAP3K1","METTL27","MLXIPL","MMP14","MMP2","MSH3","MSX1","MT-CYB","NCF1","NR0B1","NR5A1","NTHL1","OFD1","PANX1","PATL2","PDE11A","PHKA2","PHKB","PHKG2","PIK3CA","PIK3R1","PLIN1","POR","PPARG","PRKAR1A","PRLR","PTEN","RFC2","SDHB","SDHC","SDHD","SEC23B","SETD2","SLC37A4","SOX3","SOX9","SRY","STK11","STOX1","STX1A","TBL2","TBX1","TMEM270","TRPV6","TUBB8","USF3","VPS37D","WEE2","WT1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_UTERINE_PROLAPSE":{"collection":"C5:HPO","systematicName":"M41216","pmid":"","exactSource":"HP:0000139","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000139","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UTERINE_PROLAPSE","geneSymbols":["COL1A1","COL3A1","COL5A1","COL5A2","ELN","RPS6KA3","SMAD3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_MENSTRUAL_CYCLE":{"collection":"C5:HPO","systematicName":"M34563","pmid":"","exactSource":"HP:0000140","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000140","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_MENSTRUAL_CYCLE","geneSymbols":["AGGF1","AGPAT2","AIP","AKT1","AKT2","ALMS1","ANOS1","ANTXR1","AR","ARMC5","ATP7B","ATRX","AXL","BAP1","BBS9","BCOR","BLOC1S3","BLOC1S5","BMP15","BMP2","BMP6","BMPR1B","BNC1","BPTF","BRAF","BRD4","BSCL2","BTG4","C14orf39","CAV1","CAVIN1","CCDC141","CDH23","CDKN1A","CDKN1B","CDKN1C","CDKN2B","CDKN2C","CDON","CHD7","CIDEC","CISD2","CLPP","CPE","CTDP1","CYB5A","CYP11B1","CYP17A1","CYP19A1","DCC","DHH","DHX37","DIAPH1","DIAPH2","DMRT3","DNM1L","DTNBP1","DUSP6","EIF2B1","EIF2B2","EIF2B3","EIF2B4","ERAL1","ERCC6","ERCC8","ESR1","ESR2","F10","F11","F13A1","F13B","F2","F5","F7","F8","FANCM","FEZF1","FGA","FGB","FGF17","FGF8","FGFR1","FGFR3","FGG","FIGLA","FIP1L1","FLI1","FLRT3","FMR1","FOS","FOXA2","FOXL2","FSHB","FSHR","GALT","GATA3","GATA4","GDF9","GHR","GLI2","GNAS","GNRH1","GNRHR","GP1BA","GP1BB","GP6","GP9","GPR101","GPR161","H6PD","HAMP","HARS2","HDAC8","HERC2","HESX1","HFE","HFM1","HJV","HMGA2","HPS4","HPS5","HS6ST1","HSD17B4","HSF2BP","IGF2","IL17RD","IRF2BP2","ITGA2B","ITGA8","ITGB3","KISS1","KISS1R","KPNA7","LARS2","LEP","LEPR","LHB","LHX4","LIG4","LIPE","LMAN1","LMNA","MAGEL2","MAP3K1","MCFD2","MCM8","MCM9","MEN1","MKRN3","MOS","MRPS22","MSH4","MSH5","MSTO1","MYH9","NABP1","NBEAL2","NDN","NDNF","NF2","NHLH2","NIN","NIPBL","NOBOX","NPAP1","NPM1","NR0B1","NR3C1","NR5A1","NSMF","NUMA1","NUP107","OCA2","OTX2","PAPSS2","PCSK1","PDE4D","PDGFB","PEX1","PEX10","PEX6","PHKA2","PHKB","PHKG2","PIK3CA","PLAG1","PLAU","PLIN1","PML","POF1B","POLG","POLG2","POLR3H","POR","POU1F1","PPARG","PRKACG","PRKAR1A","PRLR","PROK2","PROKR2","PROP1","PRORP","PSMB8","PSMC3IP","PSMD12","PTPN11","PWAR1","PWRN1","RAD21","RARA","RASGRP2","RCBTB1","RNF216","ROBO1","SEMA3A","SEMA3E","SERPINE1","SETD2","SIM1","SLC25A13","SLC29A3","SLC37A4","SLFN14","SMARCB1","SMARCE1","SMC1A","SMC3","SMCHD1","SMO","SNORD115-1","SNORD116-1","SNRPN","SOHLH1","SOST","SOX10","SOX3","SOX9","SPIDR","SPRY4","SRA1","SRY","STAG3","STAT3","STAT5B","STUB1","SUFU","SYCE1","TAC3","TACR3","TBL1X","TBL1XR1","TERT","TFR2","TKT","TP53","TP63","TPR","TRAF7","TRIP13","TRMT10A","TWNK","USP48","USP8","VAMP7","VWF","WAS","WDR11","WIPF1","WNT4","WNT7A","WRN","WT1","WWOX","YARS1","ZBTB16","ZFPM2","ZMPSTE24","ZSWIM7"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_AMENORRHEA":{"collection":"C5:HPO","systematicName":"M34564","pmid":"","exactSource":"HP:0000141","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000141","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AMENORRHEA","geneSymbols":["AGPAT2","AIP","AKT1","ANOS1","ANTXR1","AR","ATRX","AXL","BAP1","BMP15","BMP2","BMP6","BMPR1B","BNC1","BPTF","BRAF","BRD4","BSCL2","C14orf39","CAV1","CAVIN1","CCDC141","CDH23","CDKN1A","CDKN1B","CDKN2B","CDKN2C","CDON","CHD7","CISD2","CLPP","CPE","CTDP1","CYB5A","CYP17A1","CYP19A1","DCC","DHH","DHX37","DIAPH2","DMRT3","DUSP6","EIF2B1","EIF2B2","EIF2B3","EIF2B4","ERAL1","ERCC6","ESR1","ESR2","FANCM","FEZF1","FGF17","FGF8","FGFR1","FIGLA","FLRT3","FOS","FOXA2","FOXL2","FSHB","FSHR","GALT","GATA3","GATA4","GDF9","GLI2","GNRH1","GNRHR","GPR161","HAMP","HARS2","HDAC8","HERC2","HESX1","HFE","HFM1","HJV","HS6ST1","HSD17B4","HSF2BP","IL17RD","ITGA8","KISS1","KISS1R","KPNA7","LARS2","LEP","LEPR","LHB","LHX4","LIG4","LMNA","MAGEL2","MAP3K1","MCM8","MCM9","MEN1","MKRN3","MOS","MRPS22","MSH4","MSH5","MSTO1","NDN","NDNF","NF2","NHLH2","NIN","NIPBL","NOBOX","NPAP1","NR0B1","NR3C1","NR5A1","NSMF","NUP107","OCA2","OTX2","PAPSS2","PCSK1","PDGFB","PEX1","PEX6","PIK3CA","POF1B","POLG","POLG2","POLR3H","POR","POU1F1","PPARG","PRKAR1A","PRLR","PROK2","PROKR2","PROP1","PRORP","PSMC3IP","PSMD12","PWAR1","PWRN1","RAD21","RCBTB1","RNF216","ROBO1","SEMA3A","SEMA3E","SIM1","SLC29A3","SMARCB1","SMARCE1","SMC1A","SMC3","SMCHD1","SMO","SNORD115-1","SNORD116-1","SNRPN","SOHLH1","SOX10","SOX3","SOX9","SPIDR","SPRY4","SRA1","SRY","STAG3","SUFU","SYCE1","TAC3","TACR3","TBL1X","TERT","TFR2","TKT","TP53","TP63","TRAF7","TRMT10A","TWNK","USP48","USP8","VAMP7","WDR11","WNT4","WNT7A","WRN","WT1","WWOX","YARS1","ZFPM2","ZSWIM7"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_VAGINA_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M34565","pmid":"","exactSource":"HP:0000142","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000142","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_VAGINA_MORPHOLOGY","geneSymbols":["AR","ARHGAP31","ARL6","B3GLCT","BBS1","BBS12","BCOR","BUB1","BUB1B","BUB3","CAPN15","CCDC28B","CCNQ","CEP57","CHRM3","CLEC7A","COL3A1","COL4A5","COL4A6","COL7A1","CYB5A","CYP11A1","CYP11B1","CYP17A1","DACT1","DDB1","DHCR7","DHH","DHX37","DMRT3","DYNC2H1","DYNC2I1","DYNC2I2","DYNC2LI1","FGFR2","FH","FRAS1","FREM1","FREM2","GATA3","GATA4","GLI3","GRIP1","HOXA13","HYLS1","IFT80","IL10RB","IL17F","IL17RA","IL17RC","INTU","IRF6","ITGA8","JAK3","KIF14","KIF7","LONP1","MAMLD1","MAP3K1","MKKS","MNX1","MTM1","NAB2","NR0B1","NR2F2","NR5A1","PAX3","PAX6","PI4KA","POLR1B","POLR1C","POLR1D","POR","PPP1R12A","PPP2R1A","RECQL4","RELA","RIPK4","RNU12","RSPO2","SALL1","SALL4","SLC35A2","SMAD3","SOX9","SPINT2","SRD5A2","SRY","STAT6","TBX3","TCOF1","TCTN3","TP63","TRAF3IP2","TRIP13","UBR1","VAMP7","WDR35","WNT3","WNT4","WT1","WWOX","ZEB2","ZFPM2","ZMYM2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RECTOVAGINAL_FISTULA":{"collection":"C5:HPO","systematicName":"M46052","pmid":"","exactSource":"HP:0000143","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000143","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECTOVAGINAL_FISTULA","geneSymbols":["CCNQ","DACT1","DDB1","FREM1","IL10RB","JAK3","KIF7","LONP1","MKKS","MNX1","PI4KA","POLR1B","POLR1C","POLR1D","RECQL4","RNU12","SALL1","SALL4","SPINT2","TCOF1","TCTN3","UBR1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DECREASED_FERTILITY":{"collection":"C5:HPO","systematicName":"M34566","pmid":"","exactSource":"HP:0000144","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000144","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_FERTILITY","geneSymbols":["ACTL9","ADGRG2","AGPAT2","AIP","AK7","AKAP3","ALMS1","AMH","AMHR2","ANOS1","APC2","AR","ARMC2","ASTL","AURKC","AXL","BLM","BMP15","BMP6","BNC1","BPY2","BRAF","BRCA1","BRCA2","BRDT","BRIP1","BSCL2","BTG4","C11orf80","C14orf39","C2CD6","CATIP","CATSPER1","CATSPER2","CCDC103","CCDC141","CCDC34","CCDC39","CCDC40","CCDC62","CCDC65","CCDC8","CCNO","CDC14A","CDC20","CDH23","CDY1","CDY2A","CEP112","CEP19","CFAP221","CFAP251","CFAP298","CFAP300","CFAP43","CFAP44","CFAP47","CFAP52","CFAP58","CFAP65","CFAP70","CFAP74","CFTR","CHD7","CHRM3","CLDN2","CT55","CTNS","CUL7","CYB5A","CYP11A1","CYP17A1","CYP19A1","DAZ1","DAZ2","DAZ3","DAZ4","DCC","DDX3Y","DHH","DHX37","DMRT3","DNAAF1","DNAAF11","DNAAF2","DNAAF3","DNAAF4","DNAAF5","DNAAF6","DNAH1","DNAH10","DNAH11","DNAH17","DNAH2","DNAH5","DNAH7","DNAH8","DNAH9","DNAI1","DNAI2","DNAJB13","DNAL1","DNALI1","DNHD1","DPY19L2","DRC1","DUSP6","DZIP1","ERCC4","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FBXO43","FCGR2A","FEZF1","FGD1","FGF17","FGF8","FGFR1","FIGLA","FKBP6","FLRT3","FOXA2","FOXJ1","FOXL2","FSHB","FSHR","FSIP2","GALT","GAS2L2","GAS8","GATA4","GBA2","GCM2","GCNA","GGN","GGPS1","GLI2","GNAS","GNRH1","GNRHR","H6PD","HERC2","HESX1","HFE","HJV","HLA-DQA1","HLA-DQB1","HS6ST1","HSD17B3","HSD3B2","HSF2BP","HSFY1","HYDIN","IFT74","IL17RD","IQCN","KCNU1","KDM5D","KLHL10","KPNA7","LHCGR","LHX4","LMNA","LRRC56","M1AP","MAD2L2","MAGEL2","MAP2K1","MAP3K1","MCIDAS","MEI1","MEIOB","MEN1","MKRN3","MNS1","MOS","MOV10L1","MPLKIP","MRPS22","MSH4","MSH5","NANOS1","NDN","NDNF","NEK10","NLRP2","NLRP5","NME5","NME8","NPAP1","NR0B1","NR3C1","NR5A1","NSD1","NUP107","OBSL1","OCA2","ODAD1","ODAD2","ODAD3","ODAD4","OFD1","OTX2","PADI6","PALB2","PANX1","PATL2","PDE11A","PDHA2","PGR","PLCZ1","PLIN1","PMFBP1","PNLDC1","PNPLA6","POF1B","POLR3H","POR","POU1F1","PPP2R3C","PRKAR1A","PRLR","PROK2","PROKR2","PROP1","PRY","PRY2","PSMC3IP","PTPN11","PWAR1","PWRN1","QRICH2","RAD51","RAD51C","RAF1","RBMY1A1","REC114","RFWD3","RNF212","RNF216","RPGR","RPL10L","RPS4Y2","RSPH1","RSPH3","RSPH4A","RSPH9","SEMA3A","SEMA3E","SEPTIN12","SETD2","SHOC1","SIM1","SLC26A8","SLC34A2","SLX4","SNORD115-1","SNORD116-1","SNRPN","SOHLH1","SOX10","SOX3","SOX9","SPAG1","SPAG17","SPATA16","SPEF2","SPIDR","SPINK2","SPRY4","SRA1","SRD5A2","SRY","SSX1","STAG3","STK36","STRC","STUB1","SUN5","SYCE1","SYCP2","SYCP3","TACR3","TBX3","TDRD9","TEKT3","TERB1","TERB2","TEX11","TEX14","TEX15","TGFB1","TLE6","TRIP13","TSGA10","TSPY1","TTC12","TTC21A","TTC29","TUBB8","UBE2T","USP26","USP9Y","VAMP7","VCY","WDR11","WDR19","WEE2","WRN","WT1","WWOX","XKRY","XRCC2","ZFP36L2","ZFPM2","ZMYND10","ZMYND15","ZP1","ZP2","ZP3","ZPBP","ZSWIM7"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_OVARIAN_GONADOBLASTOMA":{"collection":"C5:HPO","systematicName":"M34568","pmid":"","exactSource":"HP:0000149","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000149","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OVARIAN_GONADOBLASTOMA","geneSymbols":["DHX37","DMRT3","GATA4","MAP3K1","NR0B1","NR5A1","SOX9","SRY","VAMP7","WT1","WWOX","ZFPM2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_GONADOBLASTOMA":{"collection":"C5:HPO","systematicName":"M34569","pmid":"","exactSource":"HP:0000150","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000150","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GONADOBLASTOMA","geneSymbols":["CDKN1C","DHH","DHX37","DMRT3","GATA4","IGF2","KCNQ1","KCNQ1OT1","MAP3K1","NR0B1","NR5A1","PAX6","SOX9","SRY","VAMP7","WT1","WWOX","ZFPM2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APLASIA_OF_THE_UTERUS":{"collection":"C5:HPO","systematicName":"M34570","pmid":"","exactSource":"HP:0000151","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000151","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_OF_THE_UTERUS","geneSymbols":["AR","ARID1B","CPLX1","CTBP1","CYP11A1","CYP17A1","DHX37","FANCL","FGFRL1","GATA3","LETM1","MINPP1","MYRF","NSD2","PPP2R1A","RBM8A","TOE1","TP63","TXNDC15","WNT4","WNT7A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_WIDE_MOUTH":{"collection":"C5:HPO","systematicName":"M34571","pmid":"","exactSource":"HP:0000154","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000154","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WIDE_MOUTH","geneSymbols":["ABCC9","ACTB","ACTG1","ACTL6B","ADAMTSL2","ADAT3","ADNP","ADSL","AFF3","AGA","ALG9","ANKRD11","AP1S2","AP2M1","AP4B1","AP4E1","AP4M1","AP4S1","ARID1A","ARID1B","ARID2","ASXL3","ATIC","ATP10A","ATP6V1B2","ATPAF2","ATRX","AUTS2","B3GLCT","BAZ1B","BCL7B","BRPF1","BUD23","CAMK2A","CCDC47","CD96","CDC42","CDC42BPB","CDK19","CENPF","CHD2","CLIP2","CUL4B","DACT1","DDB1","DDX11","DHCR7","DNAJC30","DPF2","DPYD","DPYSL5","DVL1","EIF4H","ELN","ERLIN2","EXOSC5","FAM20C","FKBP6","FLCN","FOXP2","GALNS","GATAD2B","GLB1","GNB2","GNPTAB","GNS","GPC3","GPC4","GTF2I","GTF2IRD1","GTF2IRD2","H3-3A","H4C11","H4C3","H4C5","HDAC6","HECTD4","HECW2","HNRNPH2","HS2ST1","HUWE1","IDUA","IFT140","INSR","IRX5","KAT5","KAT6A","KATNB1","KCNH1","KCNJ8","KCNK4","KCNMA1","KCNN3","KDM3B","KDM6B","KIF15","KIF7","KLHL15","KMT2B","LARP7","LIG4","LIMK1","MAP2K1","MAP3K7","MAPK1","MBD5","MED12","MED13","MED13L","METTL27","MGAT2","MIPEP","MKS1","MLXIPL","MTOR","MYT1L","NALCN","NCF1","NEXMIF","NMNAT1","NONO","NR2F1","NRXN1","NSUN2","NXN","OCA2","PACS1","PACS2","PGAP1","PGAP2","PIGB","PIGL","PIGN","PIGU","PIK3CA","PMM2","POLA1","POLR1B","POLR1C","POLR1D","PPM1D","PRPS1","PSPH","PTDSS1","QRICH1","RAF1","RAI1","RALGAPA1","RFC2","RNF113A","RNF125","RNF2","RNU12","ROR2","RPS6KA3","SALL1","SCN1A","SEC23A","SET","SETBP1","SETD1A","SF3B2","SF3B4","SH3PXD2B","SKIC3","SLC12A2","SLC2A1","SLC6A1","SMARCA2","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SNIP1","SNRPN","SOS1","SOX11","SOX4","SPEN","SPRED2","SRCAP","SSR4","STAG1","STRADA","STX1A","SYNGAP1","TALDO1","TASP1","TBL2","TCF4","TCOF1","THUMPD1","TMCO1","TMEM147","TMEM270","TMEM67","TMEM70","TRIO","TRIP12","TRPM3","TRRAP","TWIST2","UBE2A","UBE3A","UBE3B","VPS37D","WAC","WDR4","WDR73","WLS","ZMIZ1","ZMYND11","ZNF148","ZNF526","ZNF699","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ORAL_ULCER":{"collection":"C5:HPO","systematicName":"M34572","pmid":"","exactSource":"HP:0000155","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000155","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ORAL_ULCER","geneSymbols":["ADA2","BANK1","BLK","C1QB","C4A","C4B","CAT","CCR1","CD27","CD40LG","CLPB","CR2","CTLA4","CYBC1","DCLRE1C","DNAJC21","DNASE1","EFL1","ELANE","ELF4","ERAP1","ETS1","FAS","FCGR2B","FCGR3B","G6PC3","GFI1","HLA-B","HLA-DRB1","IFNGR1","IGHG1","IL10","IL10RA","IL12A","IL12A-AS1","IL23R","IL7R","IRAK1","IRF5","ITGAM","JAZF1","KIAA0319L","KLRC4","MECP2","MEFV","MVK","NOD2","PDCD1","PTPN22","PXK","RELA","RIPK1","SAT1","SBDS","SLC37A4","SLC46A1","SPP1","SRP19","SRP54","STAT4","SYK","TCIRG1","TLR4","TLR7","TNFAIP3","TNFSF4","TNIP1","TREX1","UBAC2","UBE2L3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_TONGUE":{"collection":"C5:HPO","systematicName":"M34573","pmid":"","exactSource":"HP:0000157","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000157","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_TONGUE","geneSymbols":["ABCC8","ACTB","ACVRL1","ADGRG1","ADNP","ADPRS","AFF3","AFF4","AGA","AGPAT2","AGTPBP1","AIFM1","AIP","AKT1","ALG3","ALG6","ALG8","ALS2","ALX3","AMN","AMPD2","AP1S3","ARID1A","ARSB","ASAH1","ATP11A","ATP13A2","ATP1A2","ATP6V1B2","ATRX","B2M","B9D1","B9D2","BAP1","BAZ1B","BCL7B","BCR","BMP4","BSCL2","BTK","BUD23","C2CD3","CACNA1A","CASP10","CAV1","CAVIN1","CC2D2A","CCDC22","CCDC47","CDC42BPB","CDCA7","CDKN1C","CEP120","CEP290","CHCHD10","CHRNG","CLIC2","CLIP2","CLTRN","COG1","COG7","COL11A1","COL11A2","COL2A1","COL7A1","CPLANE1","CPSF3","CRKL","CRPPA","CSNK2A1","CSNK2B","CSPP1","CUBN","CUL4B","DDX59","DHCR7","DHX30","DLK1","DNAJC30","DNM1","DNMT3B","DOK7","DUOX2","DUOXA2","DVL1","DVL3","DYNC2H1","DYNC2I1","DYNC2I2","ECEL1","ECM1","EDN1","EDNRA","EGR2","EHMT1","EIF4H","ELN","ELP1","ENG","ERLIN2","EXOSC3","EXOSC8","EXOSC9","FAM111A","FAM149B1","FAM20C","FAS","FASLG","FBXO28","FDX2","FIBP","FIG4","FKBP6","FKRP","FLNA","FOS","FOXE1","FOXG1","FRAS1","FREM2","FRG1","FTO","FUCA1","FXR1","FZD2","GAA","GATA1","GIPC1","GJB2","GJB6","GLB1","GLI3","GMPPB","GNAI3","GNE","GNPTAB","GNS","GPC3","GPC4","GPR101","GRIK2","GRIP1","GSN","GTF2I","GTF2IRD1","GTF2IRD2","GUSB","H4C5","HELLS","HESX1","HEXB","HLA-B","HLA-DRB1","HNRNPK","HRAS","HS2ST1","HYMAI","IDS","IDUA","IFT140","IFT80","IGF2","IGHMBP2","IL36RN","IL6ST","INPP5E","INSR","INTU","IPO8","IYD","KAT6B","KCNH1","KCNJ11","KCNK9","KCNMA1","KCNN3","KCNQ1","KCNQ1OT1","KDM5C","KIAA0586","KIAA0753","KIF1A","KIF7","KLLN","KMT2D","KRT14","KRT5","KRT6A","KY","LAMA2","LARGE1","LGI3","LHX3","LHX4","LIFR","LIMK1","LIMS2","LMBRD1","LMNA","LMNB1","LMNB2","LRP12","MAN2B1","MAN2C1","MAPK1","MBD5","MBTPS2","MCTP2","MDM4","MED13L","MED25","MEF2C","MEG3","MEGF10","METTL27","MGAT2","MID1","MKS1","MLXIPL","MMACHC","MMP1","MORC2","MPZ","MT-TE","MTPAP","MYH3","MYMK","MYMX","NCF1","NDUFS4","NEFL","NEK1","NEK9","NEU1","NF2","NFASC","NFIX","NKX2-1","NKX2-5","NOP56","NOTCH2NLC","NRXN1","NTRK1","NXN","OCA2","OFD1","OPTN","OTX2","P4HA2","PANK2","PAX8","PDE11A","PDE6D","PDGFB","PERP","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PI4KA","PIGB","PIGS","PIGW","PIK3C2A","PIK3CA","PKP1","PLAGL1","PLCB4","PLXND1","PMP22","POLG","POLR1B","POLR1C","POLR1D","POMGNT1","POMK","POMT1","POMT2","POP1","POU1F1","POU4F1","PPARG","PQBP1","PRKAG2","PRKAR1A","PRKCD","PROP1","PRR12","PRRT2","PRRX1","PRUNE1","PRX","PSMB8","PTDSS1","PTEN","PTH1R","PTPN22","RAB3GAP1","RAB3GAP2","RALGAPA1","RASGRP1","RBBP8","RBM10","RERE","RETREG1","REV3L","RFC2","RILPL1","RIPK4","RMND1","RMRP","RNF125","ROR2","RPGRIP1","RPGRIP1L","RSPO2","RTL1","RUNX2","SBF2","SCN1A","SCN9A","SCNM1","SDHB","SDHC","SDHD","SEC23B","SERPING1","SET","SETBP1","SGCG","SH3TC2","SLC25A21","SLC25A24","SLC25A46","SLC26A4","SLC35B2","SLC35C1","SLC37A4","SLC39A4","SLC46A1","SLC52A2","SLC52A3","SLC5A5","SLC6A19","SMARCA4","SMARCB1","SMARCE1","SMN1","SMN2","SMO","SNIP1","SNRPB","SNRPN","SNX14","SOX5","SOX9","SPTBN1","SPTLC1","SREBF1","SRPX2","STX1A","SUFU","SYNGAP1","SYT2","TAF1","TBCD","TBCK","TBL2","TBX15","TBX22","TCOF1","TCTN1","TCTN2","TCTN3","TELO2","TERT","TG","TGDS","THRA","TMEM107","TMEM216","TMEM231","TMEM237","TMEM270","TMEM67","TOE1","TOPORS","TPO","TRAF3IP2","TRAF7","TRANK1","TRIM37","TRIP11","TRMU","TRPV3","TSHB","TSHR","TSPYL1","TUBB4A","TXNDC15","UBA1","UBE3A","USF3","VAC14","VCP","VPS13A","VPS13B","VPS33A","VPS37D","VRK1","VWA1","WDPCP","WDR35","WNK1","WNT10A","WNT5A","WRAP53","XPNPEP2","ZBTB24","ZFP57","ZMPSTE24","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MACROGLOSSIA":{"collection":"C5:HPO","systematicName":"M34574","pmid":"","exactSource":"HP:0000158","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000158","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MACROGLOSSIA","geneSymbols":["ABCC8","ACTB","AFF4","AGA","AGPAT2","AIP","AKT1","ALG3","ALG6","ALG8","AMPD2","ARID1A","ARSB","ATP6V1B2","ATRX","BAZ1B","BCL7B","BSCL2","BUD23","CAV1","CAVIN1","CCDC47","CDCA7","CDKN1C","CLIP2","CPSF3","CRPPA","CUL4B","DLK1","DNAJC30","DNMT3B","DUOX2","DUOXA2","DVL1","EHMT1","EIF4H","ELN","ERLIN2","FDX2","FIBP","FKBP6","FKRP","FOS","FOXE1","FOXG1","FUCA1","GAA","GATA1","GLB1","GMPPB","GNE","GNPTAB","GNS","GPC3","GPC4","GPR101","GTF2I","GTF2IRD1","GTF2IRD2","GUSB","HELLS","HESX1","HEXB","HNRNPK","HRAS","HS2ST1","HYMAI","IDS","IDUA","IFT140","IGF2","IL6ST","INPP5E","INSR","IPO8","IYD","KCNH1","KCNJ11","KCNMA1","KCNN3","KCNQ1","KCNQ1OT1","KLLN","LAMA2","LARGE1","LHX3","LHX4","LIMK1","LIMS2","MAN2B1","MAN2C1","MBD5","MED13L","MEG3","METTL27","MLXIPL","MT-TE","NCF1","NEK9","NKX2-1","NKX2-5","PAX8","PEX1","PIGS","PIGW","PIK3C2A","PIK3CA","PLAGL1","POMGNT1","POMK","POMT1","POMT2","POP1","POU1F1","PPARG","PQBP1","PRKAG2","PROP1","PSMB8","PTEN","RFC2","RMRP","RNF125","ROR2","RTL1","SDHB","SDHC","SDHD","SEC23B","SETBP1","SGCG","SLC26A4","SLC5A5","SMARCA4","SMARCB1","SNIP1","SNRPN","SNX14","STX1A","TBCK","TBL2","TG","THRA","TMEM270","TPO","TRAF3IP2","TRMU","TSHB","TSHR","UBE3A","USF3","VPS33A","VPS37D","WNT5A","ZBTB24","ZFP57"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_LIP_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M34575","pmid":"","exactSource":"HP:0000159","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000159","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LIP_MORPHOLOGY","geneSymbols":["AARS1","AASS","ABCA12","ABCC8","ABCC9","ABCD1","ABHD5","ABL1","ACER3","ACSL4","ACTA1","ACTB","ACTG1","ACVRL1","ADAM17","ADAM22","ADAMTS2","ADAMTS3","ADAMTSL1","ADAMTSL2","ADARB1","ADAT3","ADGRG6","ADNP","ADSL","AFF2","AFF3","AFF4","AGA","AGL","AGO1","AGO2","AGR2","AIMP2","AIP","ALDH6A1","ALG1","ALG11","ALG12","ALG13","ALG8","ALG9","ALOX12B","ALOXE3","ALX3","ALX4","AMER1","AMMECR1","AMN","AMPD2","ANGPT1","ANKLE2","ANKRD11","ANKRD17","ANO1","ANTXR1","AP1G1","AP1S2","AP1S3","AP2M1","AP3B1","AP3D1","AP4B1","AP4E1","AP4M1","AP4S1","APC","ARHGAP31","ARHGEF2","ARID1A","ARID1B","ARID2","ARNT2","ARSK","ARVCF","ARX","ASH1L","ASPM","ASPRV1","ASXL1","ASXL2","ASXL3","ATG7","ATIC","ATN1","ATP1A2","ATP1A3","ATP6V0A2","ATP6V1A","ATP6V1B2","ATP6V1E1","ATP7A","ATP9A","ATRX","AUTS2","AVP","AXIN2","B3GALT6","B3GAT3","B3GLCT","B4GALT1","B9D1","BANF1","BANK1","BAP1","BAZ1B","BCAS3","BCL11A","BCL11B","BCL7B","BCOR","BCR","BDNF","BLK","BLM","BMP1","BMP2","BPTF","BRAF","BRAT1","BRCA1","BRCC3","BRD4","BRF1","BRPF1","BUB1","BUB1B","BUD23","C12orf57","C4A","C4B","CA2","CACNA1A","CACNA1C","CACNA1I","CACNA2D1","CAMK2G","CAMSAP1","CAMTA1","CANT1","CASK","CAST","CASZ1","CBL","CC2D2A","CCBE1","CCDC22","CCDC47","CCDC8","CCNK","CCNQ","CD96","CDC42","CDC42BPB","CDC45","CDC6","CDH1","CDH11","CDH2","CDK10","CDK13","CDK19","CDK5RAP2","CDK6","CDKL5","CDON","CDT1","CENPE","CENPJ","CEP120","CEP135","CEP152","CEP63","CERS3","CERT1","CHAMP1","CHD2","CHD5","CHD7","CHD8","CHMP1A","CHN1","CHRNG","CHST14","CHST3","CHSY1","CHUK","CILK1","CIT","CITED2","CKAP2L","CLCF1","CLCN3","CLCN6","CLEC7A","CLIC2","CLIP2","CLP1","CLTC","CNOT1","CNOT2","CNOT3","CNTNAP1","COG1","COG6","COG7","COL11A1","COL11A2","COL2A1","COL3A1","COLEC10","COLEC11","COMT","COPB2","COX7B","CPLANE1","CPLX1","CR2","CREBBP","CRKL","CRLF1","CRTAP","CSF1R","CSGALNACT1","CSNK2A1","CSNK2B","CTBP1","CTCF","CTLA4","CTNNB1","CTNND1","CUBN","CUL4B","CUL7","CUX1","CWC27","CYB5A","CYB5R3","CYFIP2","CYP26C1","CYP4F22","DCHS1","DCPS","DDB1","DDR2","DDRGK1","DDX3X","DDX59","DDX6","DEAF1","DENND5A","DHCR7","DHODH","DHPS","DHX30","DHX37","DIS3L2","DISP1","DLK1","DLL1","DLL3","DLX4","DMPK","DNAJC30","DNASE1","DNMT3A","DOCK7","DPF2","DPM1","DPM2","DPYD","DPYSL5","DSC3","DSE","DVL1","DVL3","DYNC2H1","DYNC2I1","DYNC2I2","DYNC2LI1","DYRK1A","EBF3","EBP","ECM1","EDA","EDA2R","EDAR","EDARADD","EDEM3","EDNRA","EED","EEF1A2","EFNB1","EFTUD2","EGFR","EHMT1","EIF2S3","EIF4H","EIF5A","ELN","EMC1","ENG","EP300","EPB41L1","EPG5","ERCC1","ERCC2","ERCC5","ERCC6","ERF","ERLIN2","ERMARD","ESCO2","ETS1","EVC","EVC2","EXOC2","EXOC7","EXOSC1","EXOSC2","EXOSC5","EXT1","EXT2","EXTL3","EYA1","EZH2","FAM20C","FAR1","FAT4","FBN1","FBXL4","FBXO11","FBXO28","FBXO31","FCGR2B","FCGR3B","FERMT1","FGD1","FGF20","FGF3","FGF8","FGFR1","FGFR2","FGFRL1","FHL1","FIBP","FIG4","FKBP6","FKRP","FKTN","FLCN","FLI1","FLII","FLNA","FLNB","FLT4","FMR1","FOXA2","FOXC1","FOXC2","FOXG1","FOXH1","FOXL2","FOXP1","FOXP2","FRA10AC1","FRAS1","FREM1","FREM2","FRMD4A","FTO","FTSJ1","FUCA1","FZD2","GABRD","GAD1","GALNT2","GAS1","GATA4","GATA5","GATA6","GATAD2B","GBA1","GDF1","GDF11","GFRA1","GJA1","GJA5","GJA8","GJB2","GJB6","GLA","GLB1","GLI1","GLI2","GLI3","GLIS3","GLUL","GMNN","GMPPA","GNA14","GNAI1","GNB1","GNB2","GNE","GNPTAB","GNS","GOLGA2","GP1BB","GPC3","GPC4","GPC6","GPR101","GRB10","GREB1L","GRHL3","GRIA1","GRIA3","GRIA4","GRIP1","GTF2H5","GTF2I","GTF2IRD1","GTF2IRD2","H3-3A","H3-3B","H4C11","H4C3","H4C5","H4C9","HDAC4","HDAC6","HDAC8","HECTD4","HECW2","HERC2","HES7","HESX1","HGSNAT","HIC1","HIRA","HIVEP2","HK1","HLA-DRB1","HMGA2","HNRNPH2","HNRNPK","HNRNPU","HOXB1","HOXD13","HPDL","HRAS","HS2ST1","HS3ST6","HS6ST2","HSD17B4","HSPG2","HUWE1","HYLS1","IARS2","IDH1","IDS","IDUA","IER3IP1","IFIH1","IFT122","IFT140","IFT43","IFT52","IFT57","IFT80","IFT81","IGF1R","IGHG1","IL10","IL17F","IL17RA","IL17RC","IL1RAPL1","IL36RN","IL6ST","INPPL1","INSR","INTS1","INTU","IQSEC2","IRAK1","IREB2","IRF5","IRF6","IRX5","ITCH","ITGA8","ITGAM","JAG1","JARID2","JAZF1","JMJD1C","JUP","KANSL1","KARS1","KAT5","KAT6A","KAT6B","KAT8","KATNB1","KCNAB2","KCNE5","KCNH1","KCNJ11","KCNJ2","KCNJ5","KCNJ6","KCNJ8","KCNK4","KCNK9","KCNMA1","KCNN3","KDF1","KDM1A","KDM3B","KDM4B","KDM5B","KDM5C","KDM6A","KDM6B","KDR","KIAA0319L","KIAA0753","KIDINS220","KIF11","KIF14","KIF15","KIF1A","KIF26A","KIF7","KIFBP","KIT","KLHL41","KMT2A","KMT2C","KMT2D","KNG1","KNL1","KNSTRN","KRAS","KREMEN1","KRT16","KRT17","KRT6A","KRT6B","LARGE1","LARP7","LAS1L","LBR","LEMD2","LEMD3","LETM1","LFNG","LHX4","LIFR","LIG4","LIMK1","LIPN","LMBRD1","LMNA","LMNB1","LMX1B","LRP4","LRP6","LRRC32","LTBP1","LTBP3","LTBP4","LUZP1","LZTR1","MAB21L1","MAB21L2","MADD","MAF","MAFB","MAGEL2","MALT1","MAN1B1","MAP1B","MAP2K1","MAP2K2","MAP3K7","MAPK1","MAPK8IP3","MAPKAPK5","MAPRE2","MARS2","MASP1","MBD5","MBTPS2","MCM5","MCM7","MCOLN1","MCPH1","MCTP2","MDH1","MECP2","MED12","MED12L","MED13","MED13L","MED25","MED27","MEF2C","MEG3","MEGF8","MEIS2","MEOX1","MESD","MESP2","METTL23","METTL27","METTL5","MFSD2A","MGAT2","MGP","MICU1","MID1","MID2","MINPP1","MKRN3","MKS1","MLXIPL","MMACHC","MMP23B","MOCS1","MOCS2","MPC1","MPDU1","MRAS","MRPS28","MSL3","MSX1","MSX2","MTOR","MTX2","MUSK","MYCN","MYH3","MYH8","MYL11","MYL2","MYMK","MYMX","MYO18B","MYOD1","MYOF","NAA10","NAA20","NAGA","NALCN","NANS","NARS2","NBAS","NBN","NCAPD3","NCAPG2","NCF1","NDN","NDP","NEB","NECTIN1","NEK1","NEK9","NELFA","NEU1","NEXMIF","NF1","NFIA","NFIB","NFIX","NIPAL4","NIPBL","NKAP","NKX2-5","NKX2-6","NLRP1","NODAL","NOG","NONO","NOTCH2","NOTCH3","NOVA2","NPAP1","NRAS","NRCAM","NSD1","NSD2","NSDHL","NSRP1","NSUN2","NUAK2","NUP107","NUP37","NXN","OBSL1","OCA2","OCLN","OCRL","ODC1","OFD1","OGT","OPHN1","ORC1","ORC4","ORC6","OSTM1","OTUD6B","OTX2","P4HTM","PACS1","PACS2","PAFAH1B1","PAH","PAK3","PAM16","PARS2","PAX3","PAX6","PAX9","PBX1","PCDHGC4","PCGF2","PCLO","PDCD1","PDCD6IP","PDE4D","PDGFRB","PDHA1","PDPN","PERP","PEX26","PGAP2","PGAP3","PGM2L1","PHC1","PHF21A","PHF8","PHGDH","PHIP","PIDD1","PIEZO2","PIGB","PIGG","PIGK","PIGL","PIGN","PIGO","PIGQ","PIGS","PIGT","PIGU","PIGV","PIGW","PIGY","PIK3CA","PIK3CD","PITX2","PKDCC","PKP1","PLAA","PLCH1","PLG","PLPBP","PLXND1","PMM2","POC1A","POGZ","POLR1B","POLR1C","POLR1D","POLR3A","POLR3GL","POMGNT1","POMT1","POMT2","POR","PORCN","POU1F1","POU4F1","PPM1D","PPP1CB","PPP1R12A","PPP1R15B","PPP1R21","PPP2CA","PPP2R1A","PPP2R3C","PPP2R5D","PPP3CA","PQBP1","PRDM16","PRDX1","PREPL","PRIM1","PRKACA","PRKACB","PRKAR1B","PRKCZ","PRKDC","PRMT7","PROKR2","PROP1","PRORP","PSMB8","PSMC3","PSMD12","PTCH1","PTDSS1","PTEN","PTH1R","PTPN11","PTPN22","PTPRF","PTRH2","PUF60","PURA","PUS1","PUS7","PWAR1","PWRN1","PXK","PYCR1","PYCR2","QRICH1","RAB11B","RAB18","RAB3GAP1","RAB3GAP2","RAB5IF","RAC3","RAD21","RAF1","RAI1","RALA","RAPSN","RASA2","RBL2","RBMX","RECQL","RECQL4","RERE","RET","REV3L","RFC2","RFX7","RHOBTB2","RIC1","RIN2","RIPK4","RIPPLY2","RIT1","RNF135","RNF2","RNU12","RNU4ATAC","ROBO1","ROR2","RPGRIP1L","RPL10","RPL5","RPS19","RPS23","RPS6KA3","RPS7","RRAS","RRAS2","RREB1","RSPO2","RSPRY1","RTL1","RTTN","RUNX2","RYR1","SALL4","SARS1","SASS6","SATB1","SATB2","SC5D","SCARF2","SCN1A","SCN4A","SCUBE3","SCYL2","SDR9C7","SEC23A","SEC24C","SEC31A","SEMA3E","SET","SETBP1","SETD1A","SETD1B","SETD5","SF3B2","SF3B4","SH3PXD2B","SHANK3","SHH","SHMT2","SHOC2","SIM1","SIN3A","SIX1","SIX3","SKI","SKIC3","SLC1A3","SLC25A24","SLC25A46","SLC26A2","SLC29A3","SLC2A1","SLC2A10","SLC35A1","SLC35A2","SLC35C1","SLC39A4","SLC45A1","SLC46A1","SLC6A1","SLC6A17","SLC9A7","SLF2","SMAD4","SMARCA2","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SMC1A","SMC3","SMC5","SMG8","SMG9","SMO","SMOC1","SMPD4","SMS","SNAI2","SNIP1","SNORD115-1","SNORD116-1","SNRPB","SNRPN","SNX14","SON","SOS1","SOS2","SOX11","SOX18","SOX4","SOX9","SPATA5L1","SPECC1L","SPEN","SPOP","SPP1","SPRED2","SPTBN1","SRCAP","SRD5A3","SREBF1","SSR4","STAG2","STAT4","STEEP1","STIL","STIM1","STK11","STRADA","STT3A","STX1A","STXBP1","SUFU","SULT2B1","SUMF1","SUMO1","SUPT16H","SUZ12","SYNE1","SYNGAP1","SYT1","TAB2","TAF1","TAF13","TAF6","TAF8","TALDO1","TAOK1","TAPT1","TASP1","TBC1D20","TBC1D24","TBCE","TBCK","TBL1XR1","TBL2","TBR1","TBX1","TCF20","TCF3","TCF4","TCOF1","TCTN2","TCTN3","TDGF1","TENM3","TET3","TFAP2A","TFAP2B","TFE3","TGDS","TGFA","TGFB3","TGIF1","TGM1","THOC6","THSD1","THUMPD1","TLK2","TLR7","TMCO1","TMEM147","TMEM237","TMEM270","TMEM53","TMEM70","TMEM94","TMLHE","TNFAIP3","TNFSF4","TNIP1","TNNI2","TNPO2","TNRC6B","TOE1","TOR1A","TP63","TPM3","TPR","TRAF3IP2","TRAF6","TRAPPC10","TRAPPC14","TRAPPC4","TRAPPC9","TREX1","TRIM8","TRIO","TRIP11","TRIP12","TRMT10A","TRPM3","TRPS1","TRRAP","TSPAN7","TSPEAR","TTC26","TTC5","TTI2","TUBB","TUBGCP2","TWIST1","TWIST2","TXNL4A","UBE2A","UBE2L3","UBE3B","UBE4B","UBR1","UBR7","UFC1","UFD1","UGDH","UGP2","UNC80","UPF3B","USB1","USP9X","VAC14","VAX1","VPS13B","VPS33A","VPS35L","VPS37D","VPS51","WAC","WARS1","WARS2","WASHC4","WDR19","WDR26","WDR35","WDR37","WDR4","WDR62","WLS","WNT10A","WNT10B","WNT3","WNT4","WNT5A","WNT9B","WT1","WWOX","XPNPEP2","XRCC4","XYLT1","XYLT2","YAP1","YARS2","YWHAE","YY1","ZBTB18","ZBTB20","ZC4H2","ZDHHC9","ZEB2","ZFPM2","ZIC2","ZMIZ1","ZMPSTE24","ZMYM2","ZNF148","ZNF292","ZNF407","ZNF462","ZNF526","ZNF699","ZNHIT3","ZPR1","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NARROW_MOUTH":{"collection":"C5:HPO","systematicName":"M34576","pmid":"","exactSource":"HP:0000160","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000160","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NARROW_MOUTH","geneSymbols":["ADAMTS3","AKT1","AKT3","ALDH18A1","AMMECR1","APC","ARVCF","ASXL1","ATAD3A","ATP6V0A2","ATP6V1E1","AUTS2","B3GAT3","B4GALT7","BBS7","BCL11B","BCR","BIN1","BMP2","BMPR1A","BPNT2","BPTF","BRPF1","CA2","CACNA1C","CAMTA1","CANT1","CASZ1","CAV1","CCBE1","CCND2","CDC45","CDC6","CDK13","CDT1","CENPT","CEP57","CHD7","CHRNG","CHST14","CHST3","CHSY1","CLCF1","CLCN3","COG1","COG7","COL11A1","COL11A2","COL2A1","COL3A1","COL7A1","COMT","CREBBP","CRKL","CRLF1","CTCF","DCHS1","DCPS","DHCR24","DLK1","DONSON","DSE","ECEL1","EDN1","EIF4A3","EP300","EXTL3","FAM20C","FAT4","FBN1","FBXO11","FGFR2","FLNA","FREM2","GABRA3","GABRD","GBA1","GJA1","GLB1","GMNN","GNAI3","GNB2","GP1BB","GRB10","GSC","H3-3A","HEATR3","HECTD4","HIRA","HIVEP2","HSPG2","HUWE1","IARS2","IGF1R","ITGA3","JMJD1C","KARS1","KAT6A","KCNAB2","KIF7","LEMD2","LGI3","LMNA","LMX1B","LTBP3","LUZP1","MADD","MAF","MAPK1","MAPK8IP3","MAPRE2","MCM5","MDM2","MECP2","MED12","MED12L","MEG3","MMP1","MMP23B","MTX2","MUSK","MYBPC1","MYH3","MYL11","NALCN","NEB","NEDD4L","NFIA","NFIX","NONO","NOTCH2","ORC1","ORC4","ORC6","OSGEP","OTX2","PAFAH1B1","PAX3","PCGF2","PDPN","PHACTR1","PIEZO2","PIGA","PIGF","PIGN","PIK3CA","PIK3R2","PLCB4","POGZ","POLD1","POLR1B","POLR1C","POLR1D","POLR3A","POR","POU4F1","PPP1R15B","PQBP1","PRDM16","PRKCZ","PRRX1","PTCH1","PTEN","RAB3GAP1","RECQL4","RERE","RIPK4","RLIM","RNF2","RPL10","RREB1","RSPO2","RTL1","RTTN","RYR1","SATB2","SCARF2","SCN1A","SCNM1","SCYL2","SEC24C","SEMA3E","SEPTIN9","SETBP1","SH2B1","SIN3A","SKI","SKIC3","SLC25A24","SMAD4","SMS","SON","SOX6","SOX9","SP7","SPEG","SPEN","STXBP1","SUPT16H","SYNGAP1","TAF6","TBC1D20","TBX1","TBX4","TCOF1","TGDS","TLK2","TMLHE","TNNI2","TNNT3","TP63","TPM2","TRIP4","TRMT10A","TRMT5","TTN","TUBB","TWIST1","TXNL4A","UBE3B","UBE4B","UFC1","UFD1","WNT3","YWHAE","ZBTB20","ZMIZ1","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MEDIAN_CLEFT_LIP":{"collection":"C5:HPO","systematicName":"M34577","pmid":"","exactSource":"HP:0000161","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000161","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MEDIAN_CLEFT_LIP","geneSymbols":["ALX3","CDON","CILK1","DDX59","DISP1","DLL1","DVL1","DVL3","DYNC2LI1","EPG5","FAM20C","FGF8","FGFR1","FOXA2","FOXH1","FZD2","GAS1","GJA1","GLI2","H4C3","HESX1","HYLS1","INTU","LHX4","NEK1","NODAL","NUAK2","OFD1","OTX2","PIGN","PLCH1","POU1F1","PROP1","PTCH1","RIPK4","SHH","SIX3","SLC2A10","SMC1A","SMO","STAG2","STIL","TCTN3","TDGF1","TGIF1","WLS","WNT5A","ZIC2","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_GLOSSOPTOSIS":{"collection":"C5:HPO","systematicName":"M34578","pmid":"","exactSource":"HP:0000162","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000162","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GLOSSOPTOSIS","geneSymbols":["AFF4","BTK","COG1","COL11A1","COL11A2","COL2A1","EDN1","EDNRA","FIG4","FLNA","GNAI3","MYMK","MYMX","NFASC","NFIX","PEX16","PLCB4","POLR1B","POLR1C","POLR1D","RBM10","RSPO2","RUNX2","SLC35B2","SNRPB","SOX9","TCOF1","TGDS","VAC14"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_DENTITION":{"collection":"C5:HPO","systematicName":"M34579","pmid":"","exactSource":"HP:0000164","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000164","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_DENTITION","geneSymbols":["AARS1","ABCA12","ABCA5","ABCC9","ABL1","ACD","ACOX1","ACP4","ACP5","ACSL4","ACTA1","ACTL6B","ACVR1","ADAMTS10","ADAMTS2","ADAMTS3","ADAMTSL1","ADAT3","ADGRV1","ADNP","AEBP1","AFF3","AGA","AGO2","AGXT","AHCY","AIMP2","AIP","AIRE","AKT1","ALDH3A2","ALDOB","ALKBH8","ALMS1","ALOX12B","ALOXE3","ALPL","ALX3","ALX4","AMBN","AMELX","AMER1","AMMECR1","AMTN","ANAPC1","ANKH","ANKRD11","ANOS1","ANTXR1","ANTXR2","AP3B1","AP3B2","APC","APC2","APCDD1","ARHGAP29","ARHGEF38","ARID1A","ARID1B","ARID2","ARL6","ARSB","ARSK","ARV1","ARVCF","ASPH","ASPRV1","ASXL3","ATP1A2","ATP1A3","ATP6V0A2","ATP6V1A","ATP6V1B2","ATP6V1E1","ATR","ATRIP","ATRX","AXIN2","B3GALT6","B3GAT3","B3GLCT","B4GALT7","BANF1","BAP1","BAZ1B","BBS1","BBS4","BCAS3","BCL11B","BCL7B","BCOR","BLM","BMP1","BMP2","BMP4","BPTF","BRAF","BRCA1","BRD4","BRF1","BUD23","C12orf57","C1R","C1S","C2CD3","CA2","CACNA1A","CACNA1B","CACNA1C","CACNA1I","CACNA2D1","CAMK2B","CAMTA1","CARS1","CAT","CAV1","CBFB","CBS","CCBE1","CCDC134","CCDC141","CCDC28B","CCDC47","CCDC8","CCN2","CCR6","CDC42","CDC42BPB","CDH1","CDH11","CDH23","CDH3","CDK10","CDK13","CDK19","CDK5RAP2","CDON","CDSN","CELF2","CENPE","CENPJ","CEP120","CEP152","CEP85L","CERT1","CFAP418","CHD3","CHD7","CHRNE","CHRNG","CHST3","CHSY1","CIB2","CILK1","CKAP2L","CLCN7","CLDN1","CLDN19","CLEC7A","CLIP2","CLP1","CLPB","CLTC","CNKSR2","CNNM4","CNOT1","CNOT2","COBLL1","COG6","COL11A1","COL17A1","COL1A1","COL1A2","COL2A1","COL3A1","COL5A1","COL5A2","COL7A1","COL9A2","COMT","COX4I2","COX7B","CPLX1","CREB3L1","CREBBP","CRLF1","CRTAP","CSTB","CTBP1","CTC1","CTCF","CTDP1","CTNND1","CTSC","CTSK","CUL4B","CUL7","CUX1","CXCR4","CYFIP2","CYP27A1","CYP27B1","CYP2R1","CYP4F22","DALRD3","DCAF17","DCC","DCHS1","DDB2","DDR2","DDX59","DEAF1","DHCR7","DHDDS","DHODH","DHX37","DIAPH1","DISP1","DKC1","DLG1","DLL1","DLX3","DLX4","DMP1","DNA2","DNAJC21","DNAJC30","DNM1","DNMT3A","DOCK3","DOCK7","DPF2","DPH1","DPH2","DPH5","DPM2","DPP6","DPYD","DSC3","DSE","DSG4","DSP","DSPP","DUSP6","DVL1","DVL3","DYNC2LI1","DYRK1A","EDA","EDA2R","EDAR","EDARADD","EDN1","EDNRA","EEF1A2","EFL1","EFNB1","EHMT1","EIF2S3","EIF4A3","EIF4H","ELANE","ELMO2","ELN","EMC10","ENAM","ENPP1","EP300","EPS8L3","ERCC1","ERCC2","ERCC3","ERCC4","ERCC5","ERCC6","ERCC8","ESPN","EVC","EVC2","EXOSC5","EXT1","EYA1","FAM111A","FAM20A","FAM20C","FAM83H","FARS2","FAT4","FBN1","FBXO28","FERMT1","FEZF1","FGD1","FGF10","FGF12","FGF13","FGF17","FGF23","FGF3","FGF8","FGFR1","FGFR2","FGFR3","FGFRL1","FIG4","FKBP10","FKBP6","FLCN","FLII","FLNA","FLNB","FLRT3","FN1","FOXC1","FOXH1","FRAS1","FREM1","FREM2","FUCA1","FZD2","FZR1","GABBR2","GABRA2","GABRA5","GABRB2","GABRG2","GALNS","GALNT3","GAS1","GATA1","GATAD2B","GDF5","GFI1","GFPT1","GHR","GJA1","GJA5","GJA8","GJB2","GJB6","GLB1","GLI1","GLI2","GLI3","GNAI3","GNAS","GNB2","GNRH1","GNRHR","GON7","GORAB","GP1BB","GPC3","GPC4","GPR101","GPR68","GRB10","GREM2","GRHL2","GRHL3","GRIA3","GRIN2D","GRIP1","GTF2E2","GTF2H5","GTF2I","GTF2IRD1","GTF2IRD2","GUSB","H19","H4C5","HACD1","HBB","HCCS","HCN1","HDAC4","HDAC8","HECTD4","HEPHL1","HERC2","HESX1","HIRA","HIVEP2","HK1","HLA-DQA1","HLA-DQB1","HLA-DRB1","HMGA2","HMGB3","HNRNPH1","HNRNPK","HOXC13","HOXD13","HRAS","HS2ST1","HS6ST1","HSPA9","HSPG2","HUWE1","IDS","IDUA","IFIH1","IFITM5","IFT122","IFT140","IFT43","IFT52","IFT57","IGF1","IGF2","IKBKG","IL11RA","IL17F","IL17RA","IL17RC","IL17RD","IL1RAPL1","IL6ST","INSR","INTU","IQSEC2","IRF5","IRF6","IRX5","ITGA6","ITGA7","ITGB2","ITGB4","ITGB6","JMJD1C","JUP","KANSL1","KAT6A","KAT6B","KATNB1","KCNA2","KCNB1","KCNE5","KCNH1","KCNJ2","KCNJ5","KCNK9","KCNMA1","KCNN3","KCNQ1OT1","KCTD1","KDF1","KDM1A","KDM5C","KDM6A","KDM6B","KIAA0753","KIDINS220","KIF15","KIF1C","KIF7","KIFBP","KISS1","KISS1R","KLK4","KMT2A","KMT2C","KMT2D","KRAS","KREMEN1","KRT14","KRT16","KRT17","KRT5","KRT6A","KRT6B","KRT71","KRT74","KRT81","KRT83","KRT85","KRT86","LAGE3","LAMA3","LAMB3","LAMC2","LARP7","LBR","LEMD2","LEMD3","LETM1","LGI4","LIFR","LIG4","LIMK1","LIPH","LIPN","LMBRD2","LMNA","LMNB1","LMX1B","LONP1","LORICRIN","LOX","LPAR6","LRP4","LRP5","LRP6","LTBP2","LTBP3","LYST","MADD","MAF","MAGEL2","MAN2B1","MAP2K1","MAP3K20","MAP3K7","MAPK1","MAPK8IP3","MAPRE2","MARS1","MASP1","MBD5","MBTPS2","MCOLN1","MCTP2","MECP2","MED12","MED13L","MED27","MEGF8","MEIS2","MESD","METTL27","MGAT2","MIA3","MID1","MKRN3","MKS1","MLXIPL","MMP1","MMP13","MMP2","MMP20","MPLKIP","MSX1","MSX2","MTM1","MTX2","MYH3","MYL2","MYMX","MYO7A","MYOD1","MYSM1","NAA10","NAA20","NALCN","NARS1","NCF1","NDNF","NDST1","NDUFB11","NECAP1","NECTIN1","NECTIN4","NEDD4L","NEK1","NELFA","NEPRO","NF1","NFIX","NFKBIA","NGF","NHLH2","NHP2","NHS","NIPAL4","NIPBL","NKX2-1","NMNAT1","NODAL","NONO","NOP10","NOTCH2","NOTCH3","NPAP1","NPHS1","NPM1","NRAS","NSD1","NSD2","NSDHL","NSMF","NSUN2","NTRK1","NTRK2","NUP107","NUP133","NUP85","NUS1","NXN","OBSL1","OCA2","OCRL","ODAPH","OFD1","ORAI1","ORC1","OSGEP","OTUD5","P3H1","P4HB","PACS1","PACS2","PAK2","PAPPA2","PARN","PARS2","PAX1","PAX9","PCDH15","PCGF2","PCNT","PCYT1A","PDE4D","PDGFRA","PDGFRB","PDZD7","PEPD","PERP","PEX1","PEX6","PGAP1","PGM2L1","PHEX","PIGA","PIGF","PIGG","PIGK","PIGL","PIGS","PIGT","PIK3C2A","PIK3R1","PITX2","PKP1","PLCB4","PLCH1","PLEC","PLEKHM1","PLG","PLK4","PLOD1","PLOD3","PLXNA1","PLXND1","PNPLA6","POC1A","POF1B","POLD1","POLR1B","POLR1C","POLR1D","POLR2A","POLR3A","POLR3B","POLR3GL","POLR3K","POP1","PORCN","POU4F1","PPIB","PPP1CB","PPP1R15B","PPP2R3C","PPP3CA","PQBP1","PRDM5","PRIM1","PRKACA","PRKACB","PRKAR1A","PRKD1","PRMT7","PROK2","PROKR2","PRR12","PSMD12","PTCH1","PTCH2","PTDSS1","PTEN","PTH1R","PTHLH","PTPN11","PTPRF","PUF60","PURA","PUS7","PWAR1","PWRN1","PYROXD1","RAB23","RAB3GAP1","RAB3GAP2","RAD21","RAD51","RAI1","RBBP8","RBM28","RDH11","RECQL","RECQL4","RELT","REV3L","RFC2","RHOA","RHOBTB2","RIC1","RIGI","RIN2","RIPK4","RLIM","RMRP","RNF113A","RNF13","RNF2","RNU12","ROGDI","ROR2","RPL10","RPL21","RPS23","RPS6KA3","RREB1","RSPO1","RSPRY1","RTEL1","RUNX2","RUSC2","SASH1","SATB1","SATB2","SBDS","SCARF2","SCN3A","SCN4A","SCN8A","SCNM1","SCUBE3","SDR9C7","SEC23A","SEC24C","SEC24D","SELENON","SEMA3A","SEMA3E","SERPINF1","SERPINH1","SET","SETBP1","SETD1A","SETD2","SETD5","SFRP4","SGMS2","SH3BP2","SH3PXD2B","SHANK3","SHH","SHOC2","SIN3A","SIN3B","SIX1","SIX3","SKI","SLC10A7","SLC12A2","SLC13A5","SLC1A2","SLC24A4","SLC25A24","SLC29A3","SLC35A2","SLC35C1","SLC37A4","SLC38A3","SLC39A13","SLF2","SMAD2","SMAD3","SMARCA2","SMARCA4","SMARCAL1","SMARCB1","SMARCC2","SMARCD1","SMARCD2","SMARCE1","SMC1A","SMC3","SMC5","SMCHD1","SMG8","SMOC1","SMOC2","SMS","SNAP29","SNORD115-1","SNORD116-1","SNRPB","SNRPN","SNX10","SNX14","SOBP","SON","SOS1","SOST","SOX10","SOX11","SOX18","SOX4","SOX5","SOX9","SP6","SP7","SPARC","SPART","SPECC1L","SPEN","SPRY4","SRCAP","SRD5A3","SRP19","SRP54","SSR4","ST14","STAG1","STAG2","STAT3","STIL","STIM1","STX16","STX1A","SUFU","SULT2B1","SUMO1","SUOX","SYNGAP1","SYNJ1","SZT2","TAB2","TAC3","TACR3","TAF6","TANC2","TARS1","TBC1D24","TBC1D2B","TBCD","TBCE","TBL1XR1","TBL2","TBX1","TBX3","TBX4","TCF12","TCF4","TCIRG1","TCOF1","TDGF1","TECPR2","TEKT3","TENT5A","TERC","TERT","TFAP2A","TFAP2B","TGFA","TGFB1","TGIF1","TGM1","THOC6","THRA","TINF2","TMCO1","TMEM165","TMEM231","TMEM270","TNFRSF11A","TNFRSF11B","TNFSF11","TONSL","TP53RK","TP63","TPM2","TPM3","TPRKB","TRAF3IP2","TRAF6","TRAIP","TRAK1","TRIM37","TRIO","TRIP11","TRMT10A","TRPS1","TRPV3","TSC1","TSPAN7","TSPEAR","TTC7A","TTI2","TUBGCP2","TWIST1","TWIST2","TYMS","UBA5","UBE3A","UBE3B","UBE3C","UBR1","UFD1","UPF3B","UROD","UROS","USB1","USH1C","USH1G","USH2A","USP9X","VAC14","VARS1","VDR","VPS13B","VPS37D","VPS51","WDR11","WDR19","WDR26","WDR35","WDR4","WDR72","WDR73","WHRN","WNT10A","WNT10B","WNT5A","WRAP53","WWOX","XPA","XPC","XRCC4","XYLT1","XYLT2","YRDC","YWHAG","YY1","ZBTB7A","ZDHHC9","ZEB2","ZIC2","ZMPSTE24","ZMYM2","ZNF141","ZNF341","ZNF469","ZNF526","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_GINGIVA":{"collection":"C5:HPO","systematicName":"M34580","pmid":"","exactSource":"HP:0000168","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000168","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_GINGIVA","geneSymbols":["ABCA5","ABCC9","ADAMTS2","ADAMTS3","AEBP1","AFF3","AGA","AIMP2","ALMS1","ANTXR2","AP3B1","ASXL3","ATG7","ATP6V1B2","B4GALT7","BAZ1B","BCL7B","BCOR","BGN","BLOC1S3","BLOC1S5","BUD23","C1R","C1S","CAT","CCBE1","CD40LG","CD96","CDKN1A","CDKN1B","CDKN2B","CDKN2C","CLIP2","CLPB","CLTRN","CNTNAP1","COL3A1","CTC1","CTSC","CXCR4","CYBA","CYBB","CYBC1","DDR2","DHCR24","DHCR7","DKC1","DNAJC30","DNM1","DSP","DVL1","DVL3","ECM1","EIF4H","ELANE","ELMO2","ELN","ELOVL4","EMC1","EXTL3","F10","F13A1","F13B","F2","F5","F7","F8","FAM20A","FAM20C","FAT4","FBXO28","FCGR2C","FERMT1","FGA","FGB","FGF3","FGFR2","FGG","FIG4","FIP1L1","FKBP6","FZD2","GBA1","GFI1","GJB2","GJB6","GLB1","GNAQ","GNPTAB","GORAB","GP1BA","GP1BB","GP9","GPC3","GPC4","GTF2I","GTF2IRD1","GTF2IRD2","GUSB","HIVEP2","HPS1","HPS3","HYLS1","HYMAI","IDS","IDUA","IER3IP1","IFNG","IL18BP","IL6ST","INSR","IRF2BP2","IRF9","ITGA2B","ITGB2","ITGB3","JAK2","KCNH1","KCNJ6","KCNK4","KCNMA1","KCNN3","KIF1A","KIF23","KIF7","KRT6A","LBR","LIMK1","LMAN1","LMNB1","LYST","MAN2B1","MAP1B","MBTPS2","MCFD2","MEN1","METTL27","MGAT2","MIA3","MLXIPL","MMP14","MMP2","MPL","MYD88","MYSM1","NABP1","NCF1","NCF2","NCF4","NEU1","NFIX","NGF","NHP2","NOP10","NOTCH2","NOTCH3","NPM1","NTRK1","NUMA1","NXN","OCRL","OSTM1","PARN","PDGFRB","PERP","PIGA","PIGN","PIGS","PLAGL1","PLEKHM1","PLG","PML","PRF1","PRKAR1A","PRMT7","RACGAP1","RALGAPA1","RARA","REST","RFC2","RIN2","RMRP","ROR2","RTEL1","SAMD9","SATB2","SBDS","SC5D","SCARB2","SERPINF2","SETBP1","SH3PXD2B","SLC17A5","SLC29A3","SLC35C1","SLC37A4","SLC6A19","SMAD4","SOS1","SRP19","SRP54","STAT3","STAT5B","STX1A","TBC1D24","TBC1D2B","TBCK","TBL1XR1","TBL2","TCIRG1","TCTN3","TERC","TERT","TET2","TINF2","TMCO1","TMEM270","TRIM8","TRPV3","TSC1","TSC2","TWIST2","TYMS","USB1","USP9X","VAC14","VPS13B","VPS37D","WAS","WDR26","WIPF1","WNT5A","WRAP53","ZBTB16","ZEB2","ZNHIT3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_GINGIVAL_FIBROMATOSIS":{"collection":"C5:HPO","systematicName":"M34581","pmid":"","exactSource":"HP:0000169","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000169","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GINGIVAL_FIBROMATOSIS","geneSymbols":["ABCA5","ANTXR2","ATP6V1B2","CDKN1A","CDKN1B","CDKN2B","CDKN2C","DHCR24","ELMO2","FAM20A","FAM20C","IFNG","KCNH1","KCNMA1","KCNN3","MEN1","NOTCH3","PDGFRB","REST","SOS1","TSC1","TSC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MICROGLOSSIA":{"collection":"C5:HPO","systematicName":"M34582","pmid":"","exactSource":"HP:0000171","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000171","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MICROGLOSSIA","geneSymbols":["BMP4","DHCR7","ECM1","EDN1","GLI3","GNAI3","LMNB2","MYMK","NEK1","OTX2","PLCB4","PRRX1","PTDSS1","RBBP8","SMO","TBX15","TRIM37"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_UVULA_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M34583","pmid":"","exactSource":"HP:0000172","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000172","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_UVULA_MORPHOLOGY","geneSymbols":["AEBP1","ALG3","ALG9","AMER1","AMMECR1","ASPH","ATP6V1B2","B3GALNT2","B4GALT7","B4GAT1","B9D2","BCOR","BGN","BIN1","BMP4","BRCA1","BRCA2","BRIP1","CDC45","CDC6","CDH11","CDON","CDT1","CHD4","COL11A1","COL11A2","COL2A1","COL4A1","CRPPA","CUL3","DAG1","DDX3X","DDX59","DHCR24","DHCR7","DISP1","DLG3","DLK1","DLL1","EDN1","EIF4A3","ERCC4","EYA1","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FBXO11","FGF10","FGF8","FGFR1","FGFR2","FGFR3","FKRP","FKTN","FLNA","FOXH1","FTO","GAS1","GJA5","GJA8","GLI2","GLI3","GMNN","GNAI3","GRHL3","HAAO","HNRNPK","HYAL1","HYLS1","IFT140","IGBP1","IPO8","IRF6","KAT6B","KCNH1","KCNK9","KCNMA1","KCNN3","KCTD1","KDM6B","KIF14","KIF7","KMT2C","KMT2D","LARGE1","MAD2L2","MAP3K7","MEG3","METTL23","MYL11","NODAL","NXN","ORC1","ORC4","ORC6","PALB2","PGAP1","PGAP2","PGAP3","PGM1","PI4KA","PIEZO2","PIGL","PIGO","PIGV","PIGW","PIGY","PLCB4","PLCH1","POGZ","POLA1","POMGNT1","POMGNT2","POMK","POMT1","POMT2","PPP1CB","PRR12","PTCH1","PTDSS1","RAD51","RAD51C","RECQL4","RFWD3","RFX7","RNU4ATAC","ROR2","RPL5","RPS23","RPS28","RTL1","RXYLT1","RYR1","SATB2","SEC23A","SELENOI","SERPING1","SETD5","SHH","SHMT2","SIAH1","SIX1","SIX3","SKIC3","SLC2A10","SLC39A13","SLX4","SMAD3","SMAD4","SMARCD1","SMC1A","SMCHD1","SMPD4","SMS","SNRPN","SON","SPEG","SPTBN1","STAC3","STAG2","STIL","SUPT16H","TBCE","TBX1","TBX22","TCTN3","TDGF1","TGDS","TGFB2","TGFB3","TGFBR1","TGFBR2","TGIF1","TMEM231","TP63","TTN","TXNL4A","UBB","UBE2T","USP9X","WDR35","XRCC2","XYLT1","ZEB2","ZIC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_PALATE_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M34584","pmid":"","exactSource":"HP:0000174","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000174","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PALATE_MORPHOLOGY","geneSymbols":["AARS1","AASS","ABCC6","ABL1","ACBD5","ACTA1","ACTA2","ACTB","ACTG2","ACTN2","ACVRL1","ADA2","ADAM22","ADAMTS10","ADARB1","ADAT3","ADNP","AEBP1","AFF4","AGRN","AHI1","AIFM1","AK9","AKT1","ALDH6A1","ALG14","ALG2","ALG3","ALG9","ALX1","ALX3","ALX4","AMER1","AMMECR1","ANAPC7","ANK1","ANKRD11","ANKRD17","ANO1","ANOS1","ANTXR1","AP1G1","AP1S2","AP4B1","AP4E1","AP4M1","AP4S1","APC","APC2","AR","ARCN1","ARHGAP29","ARHGAP31","ARHGEF2","ARHGEF38","ARID1A","ARID1B","ARID2","ARL6","ARNT2","ARVCF","ARX","ASH1L","ASPH","ASXL1","ASXL3","ATAD1","ATG7","ATN1","ATP6V0A2","ATP6V1A","ATP6V1B2","ATP6V1E1","ATP7A","ATP9A","ATR","ATRX","B3GALNT2","B3GALT6","B3GAT3","B3GLCT","B4GALT7","B4GAT1","B9D1","B9D2","BAP1","BBS1","BCOR","BCR","BGN","BICRA","BIN1","BLNK","BLTP1","BMP2","BMP4","BMPER","BMPR1A","BPNT2","BRAF","BRAT1","BRCA1","BRCA2","BRD4","BRIP1","BUB1","BUB1B","BUB3","C2CD3","CA2","CACNA1S","CACNA2D1","CAMSAP1","CAMTA1","CARS1","CASK","CBL","CBS","CC2D2A","CCBE1","CCDC141","CCDC22","CCDC28B","CCDC32","CCDC47","CD79A","CD79B","CD96","CDC45","CDC6","CDH1","CDH11","CDH2","CDK10","CDK19","CDKL5","CDKN1C","CDON","CDT1","CENPF","CEP120","CEP152","CEP290","CEP41","CEP57","CFL2","CHAMP1","CHAT","CHD3","CHD4","CHD7","CHKA","CHN1","CHRNA1","CHRNB1","CHRND","CHRNE","CHRNG","CHST14","CHST3","CHSY1","CHUK","CILK1","CLCF1","CLCN3","CLP1","CLTC","CNOT1","CNTN1","CNTNAP1","COBLL1","COG1","COG5","COL11A1","COL11A2","COL12A1","COL13A1","COL1A2","COL2A1","COL3A1","COL4A1","COL5A1","COL6A1","COL6A2","COL6A3","COL9A1","COL9A2","COL9A3","COLEC10","COLEC11","COLQ","COMT","COPB1","COX14","COX6A2","COX7B","CPLANE1","CPLX1","CPSF3","CPT2","CREBBP","CRKL","CRLF1","CRPPA","CSNK2A1","CSPP1","CTBP1","CTCF","CTNNB1","CTNND1","CTNND2","CTSK","CTU2","CUL3","CUL4B","CYP26C1","DAG1","DBH","DCC","DCHS1","DDHD2","DDR2","DDX11","DDX3X","DDX59","DDX6","DEAF1","DEF6","DGCR2","DGCR6","DGCR8","DHCR24","DHCR7","DHODH","DHPS","DHX30","DIS3L2","DISP1","DLG1","DLG3","DLK1","DLL1","DLL3","DLX4","DLX5","DMXL2","DOCK3","DOK7","DONSON","DPAGT1","DPH1","DPH2","DPH5","DPM1","DPM2","DPYD","DPYSL5","DSE","DSP","DST","DUSP6","DVL1","DVL3","DYNC2H1","DYRK1A","EARS2","EBP","ECEL1","ECM1","EDEM3","EDN1","EDNRA","EEF1A2","EFEMP2","EFL1","EFNB1","EFTUD2","EIF2AK3","EIF2S3","EIF4A3","EIF5A","ELMO2","ELN","ENG","ENPP1","EP300","EPG5","ERCC2","ERCC3","ERCC4","ERCC5","ERF","ERLIN2","ERMARD","ESCO2","ESS2","EXOC7","EXOSC9","EXT1","EYA1","FAM149B1","FAM20C","FAM50A","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FARSB","FAT4","FBN1","FBN2","FBXL3","FBXO11","FBXO28","FEZF1","FGD1","FGF10","FGF17","FGF20","FGF8","FGF9","FGFR1","FGFR2","FGFR3","FGFRL1","FH","FIG4","FKBP14","FKRP","FKTN","FLCN","FLI1","FLII","FLNA","FLNB","FLRT3","FLVCR2","FN1","FOXA2","FOXC2","FOXE1","FOXE3","FOXF1","FOXH1","FOXL2","FOXP2","FRA10AC1","FRAS1","FREM2","FRMPD4","FTO","FUT8","FZD2","G6PC3","GABRA3","GAD1","GAS1","GATA1","GATA3","GATA4","GATAD2B","GBA1","GDF11","GDF3","GDF6","GEMIN4","GFPT1","GFRA1","GIPC1","GJA1","GJA5","GJA8","GJB2","GLE1","GLI2","GLI3","GMNN","GMPPB","GNAI3","GNAO1","GNB1","GNB2","GNE","GNPAT","GNRH1","GNRHR","GP1BB","GPC3","GPC4","GPT2","GRB10","GREB1L","GRHL3","GRIA3","GRIN1","GRIP1","GRM7","GSC","GTF2E2","GTF2H5","H19","H4C5","HAAO","HACD1","HBA1","HBA2","HCCS","HDAC8","HEATR3","HECTD4","HECW2","HERC1","HERC2","HES7","HESX1","HEY2","HIRA","HIVEP2","HMGA2","HNRNPH1","HNRNPH2","HNRNPK","HNRNPU","HOXA2","HOXB1","HOXD13","HPDL","HPGD","HRAS","HS2ST1","HS6ST1","HSD17B4","HSPA9","HSPG2","HUWE1","HYAL1","HYLS1","HYMAI","HYOU1","IBA57","IER3IP1","IFT122","IFT140","IGBP1","IGF1R","IGF2","IGHM","IGLL1","IL11RA","IL17RD","IL6ST","INPP5E","INPPL1","INSR","INTS1","INTU","IPO8","IQSEC2","IRF6","IRX5","ITGA7","ITGA8","JARID2","JMJD1C","JUP","KANSL1","KAT5","KAT6A","KAT6B","KATNIP","KBTBD13","KCNA1","KCNH1","KCNJ2","KCNJ5","KCNJ6","KCNK9","KCNMA1","KCNN3","KCTD1","KDF1","KDM1A","KDM5C","KDM6A","KDM6B","KIAA0586","KIAA0753","KIF14","KIF15","KIF1A","KIF21A","KIF26A","KIF7","KIFBP","KISS1","KISS1R","KLHL41","KLHL7","KLLN","KMT2A","KMT2B","KMT2C","KMT2D","KPTN","KRAS","L1CAM","LAGE3","LAMB2","LARGE1","LARS2","LBR","LEMD3","LETM1","LFNG","LGI4","LHX4","LIG4","LMBRD1","LMNA","LMOD3","LMX1B","LOX","LRP12","LRP4","LRP5","LRRC32","LRRC8A","LTBP1","LTBP2","LZTR1","MAD2L2","MADD","MAF","MAFB","MAMLD1","MAN2C1","MAP1B","MAP2K1","MAP2K2","MAP3K20","MAP3K7","MAPK1","MAPK8IP3","MAPKAPK5","MAPRE2","MARS1","MASP1","MAT2A","MBTPS2","MCM3AP","MCTP2","MECOM","MECP2","MED12","MED12L","MED13L","MED25","MEG3","MEGF10","MEGF8","MEIS2","MEOX1","MESD","MESP2","METTL23","MFAP5","MID1","MINPP1","MKKS","MKS1","MN1","MOGS","MPLKIP","MRAS","MRPL12","MSTO1","MSX1","MSX2","MT-CYB","MT-TE","MT-TN","MT-TS1","MTM1","MTX2","MUSK","MYBPC1","MYCN","MYH11","MYH2","MYH3","MYH7","MYL1","MYL11","MYL2","MYLK","MYMK","MYMX","MYO18B","MYO9A","MYOD1","MYPN","NAA10","NAE1","NALCN","NBN","NCDN","NDNF","NDUFA8","NDUFAF6","NDUFB11","NEB","NECTIN1","NEDD4L","NEFL","NEK1","NEK9","NELFA","NEUROD2","NF1","NFASC","NFIX","NHLH2","NIPA1","NIPA2","NIPBL","NLRP3","NODAL","NONO","NOTCH2","NOTCH2NLC","NOTCH3","NPHP1","NR2F1","NRAS","NRCAM","NSD1","NSD2","NSDHL","NSMF","NSRP1","NSUN2","NUAK2","NUP107","NUP188","NUP88","NXN","OBSL1","OCLN","OCRL","ODC1","OFD1","OGDHL","ORC1","ORC4","ORC6","OSGEP","OTUD6B","OTX2","PAFAH1B1","PAH","PAK3","PALB2","PAX1","PAX3","PAX7","PCDHGC4","PCGF2","PCLO","PDE11A","PDE6D","PDGFRA","PDHX","PDZD8","PEPD","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PEX7","PGAP1","PGAP2","PGAP3","PGM1","PGM2L1","PGM3","PHF8","PHGDH","PHIP","PI4KA","PIEZO2","PIGA","PIGB","PIGG","PIGH","PIGL","PIGN","PIGO","PIGP","PIGQ","PIGT","PIGU","PIGV","PIGW","PIGY","PIK3CA","PIK3R1","PITX1","PLAA","PLAG1","PLAGL1","PLCB4","PLCH1","PLOD1","PLXND1","PMM2","PNKP","POGZ","POLA1","POLR1A","POLR1B","POLR1C","POLR1D","POLR2A","POLR3A","POLRMT","POMGNT1","POMGNT2","POMK","POMT1","POMT2","POR","PORCN","POU1F1","PPP1CB","PPP1R21","PPP2CA","PPP2R5D","PPP3CA","PQBP1","PRDM5","PRKAR1A","PRKAR1B","PRKG1","PRMT7","PROK2","PROKR2","PROP1","PRPS1","PRR12","PRRX1","PRUNE1","PSAT1","PTCH1","PTDSS1","PTEN","PTPN11","PTPN14","PUF60","PUM1","PURA","PUS1","PUS7","PYCR1","PYCR2","PYROXD1","QARS1","QRICH1","RAB18","RAB23","RAB3GAP1","RAB3GAP2","RAD21","RAD51","RAD51C","RAF1","RAI1","RAPSN","RARB","RARS2","RASA2","RB1","RBM10","RBM8A","RECQL4","REEP1","RERE","RET","REV3L","RFWD3","RFX7","RIC1","RILPL1","RIN2","RIPK4","RIPPLY2","RIT1","RLIM","RMRP","RNASEH1","RNF113A","RNU12","RNU4ATAC","ROR2","RPGRIP1","RPGRIP1L","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS23","RPS24","RPS26","RPS27","RPS28","RPS29","RPS6KA3","RPS7","RRAS","RRAS2","RREB1","RRM2B","RSPO2","RTL1","RUNX2","RUSC2","RXYLT1","RYR1","RYR3","SALL4","SATB2","SC5D","SCARF2","SCN1B","SCN2A","SCN4A","SCNM1","SCO2","SCUBE3","SDHB","SDHC","SDHD","SEC23A","SEC23B","SEC24C","SEC24D","SEC31A","SELENOI","SELENON","SEMA3A","SEMA3E","SEMA5A","SEPTIN9","SERPING1","SET","SETBP1","SETD5","SF3B2","SF3B4","SH2B1","SH3BP2","SH3PXD2B","SHANK3","SHH","SHMT2","SHOC2","SHOX","SIAH1","SIK1","SIK3","SIN3A","SIX1","SIX2","SIX3","SIX5","SKI","SKIC3","SLC10A7","SLC12A6","SLC17A5","SLC18A3","SLC25A1","SLC25A12","SLC25A19","SLC25A22","SLC25A24","SLC25A46","SLC26A2","SLC2A10","SLC32A1","SLC35A2","SLC35B2","SLC35C1","SLC35D1","SLC39A13","SLC39A7","SLC5A7","SLC6A17","SLF2","SLX4","SMAD2","SMAD3","SMAD4","SMARCA2","SMARCA4","SMARCB1","SMARCD1","SMC1A","SMC3","SMC5","SMCHD1","SMG9","SMO","SMOC1","SMPD4","SMS","SNAP25","SNIP1","SNRPB","SNRPN","SNX14","SON","SOS1","SOS2","SOX10","SOX11","SOX2","SOX3","SOX5","SOX6","SOX9","SP7","SPATA5L1","SPECC1L","SPEG","SPEN","SPI1","SPINT2","SPOP","SPRED1","SPRED2","SPRY4","SPTBN1","SPTBN4","SRY","STAC3","STAG1","STAG2","STAMBP","STAT3","STIL","SUFU","SUMO1","SUPT16H","SURF1","SYNGAP1","SYT2","TAB2","TAC3","TACR3","TAF1","TAF6","TAOK1","TAPT1","TARS1","TASP1","TBC1D20","TBC1D24","TBCE","TBCK","TBL1XR1","TBR1","TBX1","TBX15","TBX2","TBX22","TBX4","TBX6","TCF3","TCF4","TCOF1","TCTN1","TCTN2","TCTN3","TDGF1","TECR","TELO2","TET3","TFAP2A","TFE3","TGDS","TGFB2","TGFB3","TGFBR1","TGFBR2","TGIF1","THOC2","THOC6","THSD4","TIMM50","TLK2","TMCO1","TMEM107","TMEM216","TMEM231","TMEM237","TMEM67","TNNI2","TNNT1","TNNT3","TOE1","TOGARAM1","TOPORS","TP63","TPM2","TPM3","TRAPPC2","TRIM8","TRIO","TRIP12","TRIP13","TRIP4","TRMU","TRPM3","TRPS1","TRPV4","TRRAP","TSPEAR","TSR2","TTC5","TTN","TUBA1A","TUBB","TUBB3","TUBB6","TUBG1","TWIST1","TWIST2","TWNK","TXNDC15","TXNL4A","UBA1","UBB","UBE2T","UBE3B","UFC1","UFD1","UPF3B","USF3","USP9X","VAC14","VAMP1","VAX1","VPS13B","VPS35L","VPS51","WARS2","WASHC5","WBP11","WDR11","WDR26","WDR35","WDR4","WDR73","WLS","WNT3","WNT4","WNT5A","WNT7A","WNT9B","XRCC2","XYLT1","YAP1","YARS1","YARS2","YWHAE","YY1","ZBTB20","ZBTB24","ZC4H2","ZDHHC9","ZEB2","ZIC2","ZMPSTE24","ZMYM2","ZNF292","ZNF341","ZNF469","ZNF668","ZNF699","ZNHIT3","ZPR1","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SUBMUCOUS_CLEFT_HARD_PALATE":{"collection":"C5:HPO","systematicName":"M47028","pmid":"","exactSource":"HP:0000176","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000176","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUBMUCOUS_CLEFT_HARD_PALATE","geneSymbols":["AMER1","AMMECR1","B3GALNT2","B4GAT1","BCOR","BICRA","BRAF","CARS1","CDC45","CDC6","CDH11","CDT1","COL2A1","COL4A1","CRPPA","CUL3","DAG1","DGCR2","DGCR6","DGCR8","DHCR24","ESS2","FKRP","FKTN","FOXP2","GDF11","GMNN","GNPAT","HAAO","HS2ST1","HYAL1","HYLS1","KAT5","KAT6B","KIF7","KRAS","LARGE1","LIG4","LMNA","MAP2K1","MAP2K2","NSUN2","ORC1","ORC4","ORC6","PIEZO2","POMGNT1","POMGNT2","POMK","POMT1","POMT2","PPP2R5D","PRKAR1B","PRR12","PTDSS1","RAD21","RNU4ATAC","RPS23","RXYLT1","SET","SIAH1","SIX3","SMAD4","SMCHD1","SON","SOX6","SOX9","STAG2","TBX1","TCTN3","WBP11","ZEB2","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_UPPER_LIP_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M34586","pmid":"","exactSource":"HP:0000177","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000177","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_UPPER_LIP_MORPHOLOGY","geneSymbols":["AARS1","AASS","ABCC8","ABCC9","ABL1","ACER3","ACTA1","ACTB","ACTG1","ADAMTS3","ADAMTSL1","ADAMTSL2","ADARB1","ADGRG6","ADNP","ADSL","AFF2","AFF3","AFF4","AGL","AGO1","AGO2","AGR2","ALDH6A1","ALG11","ALG12","ALG13","ALG8","ALG9","ALX3","ALX4","AMER1","AMMECR1","AMPD2","ANKLE2","ANKRD11","ANKRD17","ANO1","ANTXR1","AP1G1","AP1S2","AP2M1","AP3B1","AP3D1","AP4B1","AP4E1","AP4M1","AP4S1","APC","ARHGAP31","ARHGEF2","ARID1A","ARID1B","ARID2","ARNT2","ARSK","ARVCF","ARX","ASH1L","ASPM","ASXL1","ASXL2","ASXL3","ATG7","ATIC","ATN1","ATP1A2","ATP1A3","ATP6V0A2","ATP6V1A","ATP6V1B2","ATP6V1E1","ATP7A","ATP9A","ATRX","AUTS2","AVP","B3GALT6","B3GAT3","B3GLCT","B4GALT1","BAP1","BAZ1B","BCAS3","BCL11A","BCL11B","BCL7B","BCOR","BCR","BMP1","BMP2","BPTF","BRAF","BRAT1","BRCA1","BRCC3","BRD4","BRF1","BRPF1","BUB1","BUB1B","BUD23","C12orf57","CACNA1A","CACNA1C","CACNA2D1","CAMK2G","CAMSAP1","CAMTA1","CANT1","CASK","CASZ1","CBL","CC2D2A","CCBE1","CCDC22","CCDC8","CCNK","CCNQ","CD96","CDC42","CDC42BPB","CDC6","CDH1","CDH11","CDH2","CDK10","CDK13","CDK19","CDK5RAP2","CDK6","CDKL5","CDON","CENPE","CENPJ","CEP120","CEP135","CEP152","CEP63","CERT1","CHAMP1","CHD2","CHD5","CHD7","CHD8","CHMP1A","CHRNG","CHST14","CHST3","CHSY1","CHUK","CILK1","CIT","CKAP2L","CLCF1","CLCN3","CLCN6","CLIC2","CLIP2","CLP1","CLTC","CNOT1","CNOT2","CNOT3","COG1","COG7","COL11A1","COL11A2","COL2A1","COL3A1","COLEC10","COLEC11","COMT","COPB2","COX7B","CPLANE1","CPLX1","CREBBP","CRKL","CRLF1","CRTAP","CSF1R","CSGALNACT1","CSNK2A1","CSNK2B","CTBP1","CTCF","CTNNB1","CTNND1","CUL4B","CUL7","CUX1","CYFIP2","CYP26C1","DCHS1","DCPS","DDB1","DDR2","DDX3X","DDX59","DDX6","DEAF1","DENND5A","DHCR7","DHODH","DHPS","DHX30","DHX37","DIS3L2","DISP1","DLK1","DLL1","DLL3","DLX4","DMPK","DNAJC30","DNMT3A","DOCK7","DPF2","DPM1","DPM2","DPYD","DPYSL5","DSE","DVL1","DVL3","DYNC2H1","DYNC2I1","DYNC2I2","DYNC2LI1","DYRK1A","EBF3","EBP","EDA","EDA2R","EDAR","EDARADD","EDEM3","EED","EEF1A2","EFNB1","EFTUD2","EHMT1","EIF2S3","EIF4H","EIF5A","ELN","EMC1","EP300","EPB41L1","EPG5","ERCC1","ERCC6","ERLIN2","ERMARD","ESCO2","EVC","EVC2","EXOC2","EXOC7","EXOSC1","EXOSC2","EXT1","EXT2","EXTL3","EZH2","FAM20C","FAR1","FAT4","FBN1","FBXO11","FBXO28","FGD1","FGF20","FGF3","FGF8","FGFR1","FGFR2","FGFRL1","FIG4","FKBP6","FKRP","FKTN","FLCN","FLI1","FLII","FLNA","FLNB","FOXA2","FOXC2","FOXG1","FOXH1","FOXL2","FOXP2","FRA10AC1","FRAS1","FREM1","FREM2","FZD2","GABRD","GAD1","GALNT2","GAS1","GATAD2B","GBA1","GDF11","GFRA1","GJA1","GJA5","GJA8","GLB1","GLI2","GLI3","GLIS3","GMPPA","GNAI1","GNB1","GNB2","GNE","GNPTAB","GOLGA2","GP1BB","GPC3","GPC4","GPC6","GREB1L","GRHL3","GRIA3","GRIA4","GRIP1","GTF2I","GTF2IRD1","GTF2IRD2","H3-3A","H3-3B","H4C11","H4C3","H4C5","H4C9","HDAC6","HDAC8","HECTD4","HERC2","HES7","HESX1","HIC1","HIRA","HIVEP2","HK1","HNRNPH2","HNRNPK","HNRNPU","HOXB1","HOXD13","HPDL","HRAS","HS2ST1","HSD17B4","HSPG2","HUWE1","HYLS1","IARS2","IDH1","IER3IP1","IFIH1","IFT140","IFT43","IFT57","IFT80","IFT81","IGF1R","IL1RAPL1","IL6ST","INPPL1","INTS1","INTU","IQSEC2","IREB2","IRF6","IRX5","ITCH","ITGA8","JARID2","JMJD1C","JUP","KANSL1","KARS1","KAT5","KAT6A","KAT6B","KATNB1","KCNAB2","KCNH1","KCNJ11","KCNJ2","KCNJ5","KCNJ6","KCNJ8","KCNK4","KCNK9","KCNMA1","KDF1","KDM1A","KDM3B","KDM4B","KDM5B","KDM5C","KIAA0753","KIDINS220","KIF11","KIF14","KIF15","KIF1A","KIF26A","KIF7","KIFBP","KIT","KLHL41","KMT2A","KMT2D","KNL1","KRAS","LARGE1","LARP7","LAS1L","LEMD2","LETM1","LFNG","LHX4","LIMK1","LMBRD1","LMNB1","LMX1B","LRP4","LRRC32","LTBP1","LTBP3","LTBP4","LUZP1","MAB21L1","MAB21L2","MADD","MAF","MAGEL2","MAN1B1","MAP1B","MAP2K1","MAP2K2","MAP3K7","MAPK1","MAPK8IP3","MAPRE2","MARS2","MASP1","MBD5","MCM7","MCPH1","MCTP2","MECP2","MED12","MED12L","MED13","MED25","MED27","MEF2C","MEG3","MEGF8","MEIS2","MEOX1","MESD","MESP2","METTL23","METTL27","METTL5","MFSD2A","MGAT2","MGP","MICU1","MID1","MID2","MINPP1","MKRN3","MKS1","MLXIPL","MMACHC","MMP23B","MOCS1","MOCS2","MPC1","MRPS28","MSL3","MSX1","MSX2","MTOR","MTX2","MUSK","MYH3","MYH8","MYL2","MYMK","MYMX","MYO18B","MYOD1","NAA10","NAA20","NALCN","NARS2","NBAS","NBN","NCAPD3","NCAPG2","NCF1","NDN","NEB","NECTIN1","NEK1","NEK9","NELFA","NEXMIF","NF1","NFIA","NFIB","NFIX","NIPBL","NKAP","NLRP1","NODAL","NOG","NONO","NOTCH2","NOTCH3","NOVA2","NPAP1","NRAS","NRCAM","NSD1","NSD2","NSDHL","NSRP1","NSUN2","NUAK2","NUP107","NUP37","NXN","OBSL1","OCA2","OCLN","OCRL","ODC1","OFD1","OGT","OPHN1","ORC4","OSTM1","OTUD6B","OTX2","PACS1","PACS2","PAFAH1B1","PAH","PAK3","PAM16","PARS2","PAX3","PBX1","PCDHGC4","PCGF2","PCLO","PDCD6IP","PDE4D","PDGFRB","PDHA1","PDPN","PEX26","PGAP2","PGAP3","PGM2L1","PHC1","PHF21A","PHF8","PHGDH","PHIP","PIEZO2","PIGB","PIGG","PIGK","PIGL","PIGN","PIGO","PIGQ","PIGS","PIGT","PIGU","PIGV","PIGW","PIGY","PIK3CA","PITX2","PKDCC","PLAA","PLCH1","PLPBP","PMM2","POC1A","POGZ","POLR1B","POLR1C","POLR1D","POLR3A","POLR3GL","POMT1","POMT2","POR","PORCN","POU1F1","POU4F1","PPM1D","PPP1CB","PPP1R12A","PPP1R15B","PPP1R21","PPP2CA","PPP2R1A","PPP2R3C","PPP2R5D","PPP3CA","PQBP1","PRDM16","PRDX1","PREPL","PRIM1","PRKACA","PRKACB","PRKAR1B","PRKCZ","PRKDC","PRMT7","PROKR2","PROP1","PSMC3","PSMD12","PTCH1","PTEN","PTH1R","PTPRF","PTRH2","PUF60","PURA","PUS1","PUS7","PWAR1","PWRN1","PYCR1","PYCR2","QRICH1","RAB11B","RAB18","RAB3GAP1","RAB3GAP2","RAB5IF","RAC3","RAD21","RAI1","RALA","RAPSN","RECQL","RECQL4","RERE","RET","RFC2","RFX7","RHOBTB2","RIC1","RIN2","RIPK4","RIPPLY2","RNF135","RNF2","RNU4ATAC","ROBO1","ROR2","RPGRIP1L","RPL10","RPL5","RPS19","RPS7","RREB1","RSPO2","RSPRY1","RTL1","RTTN","RUNX2","RYR1","SARS1","SASS6","SATB1","SATB2","SC5D","SCN1A","SCN4A","SEC23A","SEC24C","SEMA3E","SETBP1","SETD1A","SETD5","SF3B2","SF3B4","SH3PXD2B","SHANK3","SHH","SHMT2","SHOC2","SIM1","SIN3A","SIX3","SKI","SKIC3","SLC1A3","SLC25A24","SLC25A46","SLC26A2","SLC29A3","SLC2A1","SLC2A10","SLC35A1","SLC35A2","SLC35C1","SLC45A1","SLC6A1","SLC6A17","SLC9A7","SLF2","SMAD4","SMARCA2","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SMC1A","SMC3","SMG8","SMO","SMOC1","SMPD4","SMS","SNAI2","SNIP1","SNORD115-1","SNORD116-1","SNRPB","SNRPN","SNX14","SON","SOX11","SOX4","SOX9","SPATA5L1","SPECC1L","SPEN","SPOP","SPRED2","SPTBN1","SRCAP","SSR4","STAG2","STEEP1","STIL","STIM1","STRADA","STT3A","STX1A","STXBP1","SUFU","SUMF1","SUMO1","SUPT16H","SUZ12","SYNE1","SYNGAP1","SYT1","TAB2","TAF1","TAF13","TAF6","TAF8","TALDO1","TAOK1","TAPT1","TASP1","TBC1D20","TBC1D24","TBCE","TBCK","TBL1XR1","TBL2","TBR1","TBX1","TCF20","TCF3","TCF4","TCOF1","TCTN2","TCTN3","TDGF1","TENM3","TET3","TFAP2A","TFAP2B","TGDS","TGFB3","TGIF1","THOC6","THSD1","THUMPD1","TLK2","TMCO1","TMEM147","TMEM237","TMEM270","TMEM53","TMEM70","TMEM94","TMLHE","TNNI2","TNPO2","TNRC6B","TOE1","TOR1A","TP63","TPM3","TPR","TRAPPC10","TRAPPC14","TRAPPC4","TRAPPC9","TRIM8","TRIO","TRIP11","TRIP12","TRMT10A","TRPM3","TRPS1","TRRAP","TSPAN7","TTC5","TUBB","TUBGCP2","TWIST1","TWIST2","TXNL4A","UBE2A","UBE3B","UBE4B","UBR1","UBR7","UFC1","UFD1","UGDH","UGP2","UNC80","UPF3B","USB1","USP9X","VAC14","VAX1","VPS13B","VPS35L","VPS37D","VPS51","WAC","WARS1","WARS2","WASHC4","WDR19","WDR26","WDR35","WDR37","WDR4","WDR62","WLS","WNT3","WNT4","WNT5A","WNT9B","WWOX","XYLT1","XYLT2","YAP1","YARS2","YWHAE","YY1","ZBTB18","ZC4H2","ZDHHC9","ZEB2","ZIC2","ZMIZ1","ZNF148","ZNF292","ZNF407","ZNF462","ZNF526","ZNF699","ZNHIT3","ZPR1","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_LOWER_LIP_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M34587","pmid":"","exactSource":"HP:0000178","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000178","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LOWER_LIP_MORPHOLOGY","geneSymbols":["ABCA12","ABCC9","ABHD5","ACER3","ADAMTS2","ADNP","AFF3","AGA","AIP","ALOX12B","ALOXE3","AMER1","ANTXR1","AP2M1","ARID1A","ARID1B","ARID2","ASPRV1","ASXL3","ATP6V1B2","ATRX","B9D1","BAZ1B","BCAS3","BCL11A","BCL7B","BDNF","BMP2","BUD23","CA2","CAMTA1","CBL","CCDC8","CDH11","CDKL5","CDT1","CHAMP1","CHD2","CHN1","CLIC2","CLIP2","COL11A1","CUL4B","CUL7","CYP4F22","DEAF1","DENND5A","DHX30","DNAJC30","DOCK7","DPF2","DYRK1A","EBF3","ECM1","EDA","EDA2R","EDAR","EDARADD","EDNRA","EEF1A2","EHMT1","EIF4H","ELN","ERCC1","ERCC2","ERCC5","ERCC6","FBN1","FBXL4","FBXO11","FGD1","FHL1","FKBP6","FLNA","FOXC1","FOXG1","FRMD4A","FTSJ1","FUCA1","GBA1","GJA5","GJA8","GLA","GNAI1","GNS","GPR101","GRHL3","GTF2I","GTF2IRD1","GTF2IRD2","H3-3A","HDAC4","HECW2","HGSNAT","HRAS","HS2ST1","HSPG2","HUWE1","IDS","IDUA","IFT122","IFT43","IFT52","IGF1R","INSR","IRF6","IRX5","KANSL1","KAT5","KCNH1","KCNMA1","KCNN3","KDM6A","KIF11","KIF15","KIFBP","KMT2C","KNSTRN","KRAS","LIMK1","LIPN","LTBP1","LTBP3","LZTR1","MAFB","MBD5","MCOLN1","MDH1","MECP2","MED12","MED12L","MED13L","MED25","METTL27","MGAT2","MLXIPL","MRAS","MSX1","MYCN","MYO18B","NAGA","NANS","NCF1","NEU1","NEXMIF","NFIX","NIPAL4","NRAS","OBSL1","OCRL","PACS2","PAX6","PCDHGC4","PHGDH","PIGL","PIGN","PIK3CD","PITX2","PLXND1","POMGNT1","POU4F1","PPP1CB","PSMB8","PTH1R","PTPN11","PUS7","QRICH1","RAB3GAP1","RAB3GAP2","RAF1","RASA2","RBMX","RET","REV3L","RFC2","RHOBTB2","RIT1","RNF135","RPL10","RPS23","RPS6KA3","RRAS","RRAS2","SALL4","SCARF2","SCN1A","SDR9C7","SETD1B","SHOC2","SIN3A","SLC25A24","SLC2A1","SLC6A1","SMARCA2","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SMC5","SMG9","SMS","SNRPN","SOS1","SOS2","SOX11","SOX4","SPECC1L","SPRED2","SRCAP","STRADA","STX1A","SULT2B1","SYNGAP1","TASP1","TBC1D24","TBL1XR1","TBL2","TFAP2A","TFAP2B","TFE3","TGM1","THOC6","TMEM147","TMEM270","TMEM53","TNPO2","TTC26","UGDH","VPS37D","WDR19","WDR35","WT1","YY1","ZBTB20","ZEB2","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_THICK_LOWER_LIP_VERMILION":{"collection":"C5:HPO","systematicName":"M34588","pmid":"","exactSource":"HP:0000179","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000179","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THICK_LOWER_LIP_VERMILION","geneSymbols":["ABCC9","ACER3","ADNP","AFF3","AGA","AIP","AMER1","ANTXR1","AP2M1","ARID1A","ARID1B","ARID2","ATP6V1B2","ATRX","B9D1","BAZ1B","BCL7B","BUD23","CA2","CAMTA1","CBL","CDH11","CDKL5","CDT1","CHD2","CLIP2","COL11A1","CUL4B","CUL7","DEAF1","DNAJC30","DPF2","DYRK1A","EBF3","ECM1","EHMT1","EIF4H","ELN","FBN1","FKBP6","FLNA","FRMD4A","FTSJ1","FUCA1","GJA5","GJA8","GLA","GNAI1","GNS","GPR101","GTF2I","GTF2IRD1","GTF2IRD2","HDAC4","HECW2","HRAS","HUWE1","IDS","INSR","KAT5","KCNN3","KIF11","KIF15","KMT2C","KRAS","LIMK1","LTBP1","LTBP3","LZTR1","MED12","METTL27","MLXIPL","MRAS","NAGA","NANS","NCF1","NEU1","NEXMIF","NRAS","PHGDH","PIGL","POU4F1","PPP1CB","PSMB8","PTH1R","PTPN11","PUS7","RAF1","RASA2","RBMX","RET","RFC2","RHOBTB2","RIT1","RNF135","RPS23","RPS6KA3","RRAS","RRAS2","SCN1A","SETD1B","SHOC2","SIN3A","SLC2A1","SLC6A1","SMARCA2","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SMC5","SMG9","SMS","SOS1","SOS2","SOX11","SOX4","SPRED2","STRADA","STX1A","SYNGAP1","TASP1","TBC1D24","TBL2","TMEM147","TMEM270","TMEM53","UGDH","VPS37D","YY1","ZBTB20","ZEB2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LOBULATED_TONGUE":{"collection":"C5:HPO","systematicName":"M34589","pmid":"","exactSource":"HP:0000180","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000180","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOBULATED_TONGUE","geneSymbols":["C2CD3","CEP120","CPLANE1","DDX59","FAM149B1","KIAA0753","KIF7","MEF2C","MKS1","OFD1","PDE6D","SCNM1","TCTN3","TMEM216","TMEM231","TOPORS"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MOVEMENT_ABNORMALITY_OF_THE_TONGUE":{"collection":"C5:HPO","systematicName":"M34590","pmid":"","exactSource":"HP:0000182","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000182","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MOVEMENT_ABNORMALITY_OF_THE_TONGUE","geneSymbols":["ALS2","ATP13A2","EDN1","FRAS1","GAA","GIPC1","GNAI3","LRP12","MTPAP","NOTCH2NLC","PLCB4","POLG","RILPL1","SBF2","SH3TC2","TUBB4A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DIFFICULTY_IN_TONGUE_MOVEMENTS":{"collection":"C5:HPO","systematicName":"M34591","pmid":"","exactSource":"HP:0000183","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000183","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DIFFICULTY_IN_TONGUE_MOVEMENTS","geneSymbols":["ALS2","ATP13A2","EDN1","FRAS1","GAA","GIPC1","GNAI3","LRP12","NOTCH2NLC","PLCB4","RILPL1","SBF2","SH3TC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CLEFT_SOFT_PALATE":{"collection":"C5:HPO","systematicName":"M34592","pmid":"","exactSource":"HP:0000185","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000185","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CLEFT_SOFT_PALATE","geneSymbols":["ADA2","BUB1","COL2A1","DDX59","DVL1","DYRK1A","FKBP14","GATA1","GNB2","GRHL3","H4C5","HEATR3","IPO8","KCNK9","MED12","MSX2","NEK1","NONO","NXN","POLR3A","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS7","SCNM1","SLC25A19","SMARCD1","SNRPB","SON","STAC3","TCOF1","TGFB3","TP63","TSR2","UBB","ZPR1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BROAD_ALVEOLAR_RIDGES":{"collection":"C5:HPO","systematicName":"M34593","pmid":"","exactSource":"HP:0000187","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000187","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BROAD_ALVEOLAR_RIDGES","geneSymbols":["ARX","ASXL1","ATP6V1B2","DHCR7","DIS3L2","FIG4","GJA1","GNS","OFD1","RERE","SETBP1","SH3PXD2B","TBC1D24","VAC14","ZC4H2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SHORT_UPPER_LIP":{"collection":"C5:HPO","systematicName":"M34594","pmid":"","exactSource":"HP:0000188","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000188","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_UPPER_LIP","geneSymbols":["AMPD2","ATRX","CPLX1","CTBP1","EMC1","FGFRL1","FIG4","GRIA3","LETM1","NSD2","TWIST2","VAC14"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NARROW_PALATE":{"collection":"C5:HPO","systematicName":"M34595","pmid":"","exactSource":"HP:0000189","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000189","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NARROW_PALATE","geneSymbols":["AARS1","ABCC6","ACTA1","ACTA2","ADAMTS10","ADNP","AEBP1","AFF4","AMER1","ANTXR1","APC","APC2","ARID2","ARL6","ASXL1","ASXL3","ATN1","ATP6V1B2","ATP7A","BBS1","BCOR","BCR","BMPR1A","BRAF","BRCA1","CARS1","CCBE1","CCDC22","CCDC28B","CDC45","CDC6","CDK10","CDT1","CNTN1","CNTNAP1","COL11A1","COL12A1","COL3A1","COPB1","CPT2","CREBBP","CRKL","CTSK","DDX59","DIS3L2","DPM1","DPYSL5","DVL1","DVL3","ELMO2","ELN","EP300","ERCC2","ERCC3","ERF","ERMARD","FBN1","FGFR1","FGFR2","FGFR3","FIG4","FLNA","FOXE3","FOXP2","FZD2","GIPC1","GMNN","GNE","GPC3","GPC4","GRB10","GRIA3","GTF2E2","GTF2H5","H4C5","HECTD4","HECW2","HERC2","HEY2","HNRNPK","HRAS","IFT122","IL11RA","INTU","IPO8","KANSL1","KCNK9","KIF26A","KLHL41","LOX","LRP12","LRP4","MADD","MAP2K1","MAP3K7","MAPK1","MARS1","MAT2A","MCM3AP","MED12","MED12L","MED25","MEGF8","MESD","MFAP5","MPLKIP","MUSK","MYH11","MYLK","MYMX","NAA10","NDUFAF6","NEB","NEK9","NIPBL","NONO","NOTCH2NLC","NOTCH3","NSD1","OCRL","ORC1","ORC4","ORC6","PCDHGC4","PCLO","PEX1","PEX5","PIEZO2","PIGT","PLOD1","POR","PRKG1","PRUNE1","PTDSS1","PTEN","PTPN11","RAB18","RARS2","RECQL4","RET","RILPL1","RNF113A","RPS6KA3","RUNX2","SCARF2","SCNM1","SETBP1","SH3BP2","SIN3A","SKI","SLC25A12","SLC25A24","SLC25A46","SLC35C1","SLC6A17","SMAD2","SMAD3","SMAD4","SMARCA2","SMG9","SMS","SOX5","SPEN","SPRED1","SPRED2","SPTBN1","TAF1","TAOK1","TARS1","TBC1D24","TBCK","TBX1","TBX2","TCTN3","TECR","TGFB2","TGFB3","TGFBR1","TGFBR2","THSD4","TPM3","TRPS1","TWIST1","UBE3B","UFC1","VAC14","VPS13B","VPS35L","WASHC5","WNT5A","WNT7A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_ORAL_FRENULUM_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M34596","pmid":"","exactSource":"HP:0000190","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000190","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ORAL_FRENULUM_MORPHOLOGY","geneSymbols":["ADNP","AFF3","ATP6V1B2","B3GLCT","BCR","C2CD3","CD96","CDC42BPB","CDK13","CHUK","COL3A1","COL7A1","CPLANE1","CRKL","DDX59","DVL1","DYNC2LI1","EFTUD2","EVC","EVC2","FAM111A","FAM149B1","FLNA","FREM1","GLI1","GLI3","H4C5","IFT140","IFT57","KIAA0586","KIAA0753","KIF7","KMT2D","LMNA","MAPK1","MID1","MMP1","NEK1","NXN","OFD1","PDE6D","POU4F1","PRKACA","PRKACB","PRR12","RIPK4","ROR2","RSPO2","SCNM1","SETBP1","SETD5","SLC37A4","SMARCA2","SPTBN1","TBC1D24","TBR1","TBX22","TCTN3","TELO2","TMEM216","TOPORS","WDR35","WNT5A","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ACCESSORY_ORAL_FRENULUM":{"collection":"C5:HPO","systematicName":"M34597","pmid":"","exactSource":"HP:0000191","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000191","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACCESSORY_ORAL_FRENULUM","geneSymbols":["C2CD3","CD96","CHUK","CPLANE1","DDX59","DYNC2LI1","EFTUD2","FLNA","GLI3","IFT140","IFT57","KIAA0586","OFD1","PRKACA","PRKACB","SCNM1","TCTN3","TELO2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BIFID_UVULA":{"collection":"C5:HPO","systematicName":"M41217","pmid":"","exactSource":"HP:0000193","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000193","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BIFID_UVULA","geneSymbols":["ALG3","ALG9","AMER1","AMMECR1","ASPH","ATP6V1B2","B3GALNT2","B4GALT7","B4GAT1","B9D2","BCOR","BGN","BIN1","BMP4","CDC45","CDC6","CDH11","CDON","CDT1","CHD4","COL11A1","COL11A2","COL2A1","COL4A1","CRPPA","CUL3","DAG1","DDX3X","DDX59","DHCR24","DHCR7","DISP1","DLG3","DLK1","DLL1","EDN1","EIF4A3","EYA1","FBXO11","FGF10","FGF8","FGFR1","FGFR2","FGFR3","FKRP","FKTN","FLNA","FOXH1","FTO","GAS1","GJA5","GJA8","GLI2","GLI3","GMNN","GNAI3","GRHL3","HAAO","HNRNPK","HYAL1","HYLS1","IFT140","IGBP1","IPO8","IRF6","KAT6B","KCNH1","KCNK9","KCNMA1","KCNN3","KCTD1","KDM6B","KIF14","KIF7","KMT2C","KMT2D","LARGE1","MAP3K7","MEG3","METTL23","MYL11","NODAL","ORC1","ORC4","ORC6","PGAP1","PGAP2","PGAP3","PGM1","PIEZO2","PIGL","PIGO","PIGV","PIGW","PIGY","PLCB4","PLCH1","POGZ","POLA1","POMGNT1","POMGNT2","POMK","POMT1","POMT2","PPP1CB","PTCH1","PTDSS1","RECQL4","RFX7","RNU4ATAC","RPL5","RPS23","RPS28","RTL1","RXYLT1","RYR1","SATB2","SEC23A","SELENOI","SETD5","SHH","SHMT2","SIAH1","SIX1","SIX3","SKIC3","SLC2A10","SLC39A13","SMAD3","SMAD4","SMARCD1","SMC1A","SMCHD1","SMPD4","SMS","SNRPN","SON","SPEG","STAC3","STAG2","STIL","SUPT16H","TBCE","TBX1","TBX22","TCTN3","TDGF1","TGDS","TGFB2","TGFB3","TGFBR1","TGFBR2","TGIF1","TMEM231","TP63","TTN","TXNL4A","UBB","USP9X","XYLT1","ZEB2","ZIC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_OPEN_MOUTH":{"collection":"C5:HPO","systematicName":"M34598","pmid":"","exactSource":"HP:0000194","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000194","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OPEN_MOUTH","geneSymbols":["ADAM22","AGO2","AHI1","AKT1","ANKLE2","AP1S2","ASH1L","ASXL3","ATN1","ATP6V1B2","ATRX","BCAS3","BRAF","CACNA1I","CCDC174","CCDC88A","CHAMP1","CHD8","CLTC","CSNK2B","DEAF1","DENND5A","DGCR2","DGCR6","DGCR8","DHX30","DIS3L2","DLK1","DPYD","DST","ECEL1","EIF2S3","ELN","ESS2","EXTL3","FAM149B1","FLII","FOXP1","GBA1","GFM2","GRIA3","H3-3A","H4C5","HNRNPK","HOXB1","HRAS","IL1RAPL1","INPP5E","IQSEC2","KANSL1","KCNH1","KCNJ6","KCNK9","KIF1A","KIF7","LAMA2","MAGEL2","MBD5","MED12","MED12L","MED13L","MEF2C","MEG3","MGAT2","MLXIPL","MTOR","NEXMIF","NFIX","NGLY1","NKAP","NONO","NRAS","OCRL","OGT","PAK3","PARS2","PDE4D","PDZD8","PIGF","PIGL","PIGN","PIGT","PLXND1","POGZ","POLRMT","POMT2","PPP2R1A","PPP2R5D","PRKAR1A","PURA","PUS7","RAC1","RAI1","REV3L","RPS23","RPS6KA3","RTL1","SCN4A","SETBP1","SIN3A","SLC35A2","SLC6A8","SLC9A6","SNRPN","SOX11","SOX5","STRADA","TBC1D24","TBX1","TCF20","TCF4","TET3","TFE3","TMEM237","TUBB4A","UNC80","VPS13B","ZEB2","ZNHIT3","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_PAROTID_GLAND_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M34599","pmid":"","exactSource":"HP:0000197","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000197","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PAROTID_GLAND_MORPHOLOGY","geneSymbols":["ATP2A2","BTNL2","CXCR4","FGFR2","HLA-DRB1","PSMB8","TCOF1","TP63"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_TONGUE_NODULES":{"collection":"C5:HPO","systematicName":"M34600","pmid":"","exactSource":"HP:0000199","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000199","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TONGUE_NODULES","geneSymbols":["CPLANE1","ECM1","FAM149B1","KIAA0753","KIF7","NEK1","OFD1","PDE11A","PDE6D","PRKAR1A","RBM10","SCNM1","TCTN3","TMEM216","TOPORS"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SHORT_LINGUAL_FRENULUM":{"collection":"C5:HPO","systematicName":"M34601","pmid":"","exactSource":"HP:0000200","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000200","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_LINGUAL_FRENULUM","geneSymbols":["ATP6V1B2","B3GLCT","CDK13","DVL1","FREM1","KIAA0753","LMNA","SMARCA2","TBC1D24","WDR35","WNT5A","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PIERRE_ROBIN_SEQUENCE":{"collection":"C5:HPO","systematicName":"M34602","pmid":"","exactSource":"HP:0000201","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000201","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PIERRE_ROBIN_SEQUENCE","geneSymbols":["AMER1","ANKRD17","BMP2","BUB1","COG1","COL11A1","COL11A2","COL2A1","COL9A2","DGCR2","DGCR6","DGCR8","EIF4A3","ESS2","FLNA","GRB10","KCNK4","KIF15","MAP3K7","MYMK","MYMX","NEDD4L","PGM1","PIGA","RBM10","SATB2","SCUBE3","SLC10A7","SLC35B2","SNRPB","TBX1","TGDS","YY1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_OROFACIAL_CLEFT":{"collection":"C5:HPO","systematicName":"M34603","pmid":"","exactSource":"HP:0000202","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000202","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OROFACIAL_CLEFT","geneSymbols":["ACBD5","ACTB","ACTG1","ACTG2","ADA2","AHI1","ALX1","ALX3","ALX4","AMER1","AMMECR1","ANKRD11","ANKRD17","ANOS1","AR","ARCN1","ARHGAP29","ARHGAP31","ARHGEF38","ARID1A","ARID1B","ARID2","ARL13B","ARL3","ARL6IP6","ARMC9","ARNT2","ARVCF","ARX","ASXL1","ATN1","ATP6V1B2","ATP6V1E1","ATR","AXIN2","B3GALNT2","B3GALT6","B3GAT3","B3GLCT","B4GALT7","B4GAT1","B9D1","B9D2","BCOR","BCR","BICRA","BMP4","BMPER","BPNT2","BRAF","BRCA1","BRCA2","BRD4","BRIP1","BUB1","BUB1B","BUB3","C2CD3","CARS1","CASK","CBY1","CC2D2A","CCDC141","CCDC22","CCDC32","CD96","CDC45","CDC6","CDH1","CDH11","CDKL5","CDKN1C","CDON","CDT1","CENPF","CEP104","CEP120","CEP152","CEP290","CEP41","CEP57","CHD7","CHN1","CHRNA1","CHRND","CHRNG","CHST14","CHST3","CHSY1","CHUK","CILK1","COBLL1","COG1","COL11A1","COL11A2","COL2A1","COL4A1","COL9A1","COL9A2","COL9A3","COLEC10","COLEC11","COMT","COX7B","CPLANE1","CPLX1","CREBBP","CRKL","CRPPA","CSPP1","CTBP1","CTCF","CTNND1","CUL3","CYP26C1","DAG1","DCC","DDX3X","DDX59","DEAF1","DEF6","DGCR2","DGCR6","DGCR8","DHCR24","DHCR7","DHODH","DISP1","DLG1","DLK1","DLL1","DLL3","DLX4","DLX5","DMXL2","DOK7","DONSON","DPH1","DPH2","DPYSL5","DSE","DSP","DUSP6","DVL1","DVL3","DYNC2H1","DYNC2I1","DYNC2I2","DYNC2LI1","DYRK1A","EARS2","EBP","ECEL1","EDA","EDARADD","EDEM3","EDN1","EDNRA","EFNB1","EFTUD2","EIF2S3","EIF4A3","EIF5A","EMG1","EP300","EPCAM","EPG5","ERCC4","ERCC5","ESCO2","ESS2","EVC","EVC2","EYA1","FAM149B1","FAM20C","FAM50A","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FBXO11","FEZF1","FGD1","FGF10","FGF17","FGF20","FGF8","FGF9","FGFR1","FGFR2","FGFR3","FGFRL1","FKBP14","FKRP","FKTN","FLII","FLNA","FLNB","FLRT3","FLVCR2","FOXA2","FOXC2","FOXE1","FOXF1","FOXH1","FOXP2","FRAS1","FREM2","FTO","FUZ","FZD2","G6PC3","GABRA3","GAD1","GAS1","GATA1","GATA3","GATA6","GDF11","GDF3","GDF6","GFRA1","GJA1","GJB2","GLI2","GLI3","GMNN","GMPPB","GNA11","GNAI3","GNAO1","GNB1","GNB2","GNPAT","GNRH1","GNRHR","GP1BB","GPC3","GPC4","GREB1L","GRHL3","GRIN1","GRIP1","GRM7","H4C3","H4C5","HAAO","HCCS","HDAC8","HEATR3","HES7","HESX1","HIRA","HMGA2","HNRNPK","HOXA2","HOXD13","HS2ST1","HS6ST1","HSPG2","HYAL1","HYLS1","IFT172","IFT57","IFT74","IFT80","IGBP1","IGF2","IKBKG","IL17RD","IL6ST","INPP5E","INPPL1","INTS1","INTU","IPO8","IQSEC2","IRF6","ITGA8","JARID2","JMJD1C","JUP","KANSL1","KAT5","KAT6A","KAT6B","KATNIP","KCNA1","KCNH1","KCNJ2","KCNK9","KCNMA1","KCNN3","KDF1","KDM6A","KIAA0586","KIAA0753","KIF15","KIF21A","KIF7","KIFBP","KISS1","KISS1R","KLHL41","KMT2D","KRAS","LARGE1","LARS2","LBR","LEMD3","LETM1","LFNG","LHX4","LIG4","LMBRD1","LMNA","LMX1B","LRP6","LRRC32","MAD2L2","MAF","MAFB","MAMLD1","MAP2K1","MAP2K2","MAP3K7","MAPK1","MAPRE2","MASP1","MBTPS2","MCTP2","MECOM","MED12","MED25","MEG3","MEGF10","MEIS2","MEOX1","MESP2","MID1","MKKS","MKS1","MSX1","MSX2","MT-CYB","MTHFR","MUSK","MYH3","MYL11","MYMK","MYMX","MYOD1","NAA10","NAE1","NBN","NDNF","NDUFB11","NEB","NECTIN1","NEDD4L","NEK1","NELFA","NEUROD2","NFASC","NFIX","NHLH2","NIPBL","NKX2-5","NKX2-6","NODAL","NONO","NOTCH2","NOTCH3","NPHP1","NSD2","NSDHL","NSMF","NSUN2","NUAK2","NUP107","NUP188","NUP88","NXN","OCLN","OFD1","ORC1","ORC4","ORC6","OTX2","PALB2","PAX3","PAX9","PDE6D","PDGFRA","PDZD8","PERCC1","PEX2","PEX5","PEX7","PGAP2","PGAP3","PGM1","PHF6","PHF8","PHGDH","PIBF1","PIEZO2","PIGG","PIGL","PIGN","PIGO","PIGP","PIGQ","PIGV","PITX1","PLAG1","PLCB4","PLCH1","PLXND1","PNKP","POGZ","POLR1A","POLR1B","POLR1C","POLR1D","POLR2A","POLR3A","POMGNT1","POMGNT2","POMK","POMT1","POMT2","PORCN","POU1F1","PPP2R5D","PPP3CA","PQBP1","PRDM5","PRKAR1B","PROK2","PROKR2","PROP1","PRR12","PRRX1","PSAT1","PTCH1","PTDSS1","PTPN11","PUF60","RAB5IF","RAD21","RAD51","RAD51C","RAI1","RAPSN","RARB","RB1","RBM10","RBM8A","RECQL4","RERE","RET","REV3L","RFWD3","RIC1","RIPK4","RIPPLY2","RNU12","RNU4ATAC","ROR2","RPGRIP1","RPGRIP1L","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS23","RPS24","RPS26","RPS27","RPS28","RPS29","RPS7","RREB1","RSPO2","RTL1","RUNX2","RXYLT1","SALL4","SATB2","SCARF2","SCN1B","SCN2A","SCNM1","SCUBE3","SEC23A","SEC24C","SELENOI","SEMA3A","SEMA3E","SEPTIN9","SET","SETD5","SF3B2","SF3B4","SH2B1","SHH","SIAH1","SIK1","SIX1","SIX3","SIX5","SLC10A7","SLC18A3","SLC25A19","SLC25A22","SLC26A2","SLC29A3","SLC2A10","SLC32A1","SLC35B2","SLC35D1","SLX4","SMAD3","SMAD4","SMARCA4","SMARCB1","SMARCD1","SMC1A","SMC3","SMCHD1","SMG9","SMO","SMOC1","SMPD4","SMS","SNRPB","SNRPN","SON","SOX10","SOX2","SOX3","SOX6","SOX9","SPECC1L","SPINT2","SPOP","SPRY4","STAC3","STAG1","STAG2","STAMBP","STAT3","STIL","SUCLG1","SUFU","SUMO1","TAC3","TACR3","TAPT1","TBC1D24","TBR1","TBX1","TBX15","TBX2","TBX22","TBX4","TBX6","TCOF1","TCTN1","TCTN2","TCTN3","TDGF1","TELO2","TFAP2A","TFE3","TGDS","TGFA","TGFB3","TGFBR1","TGFBR2","TGIF1","TMCO1","TMEM107","TMEM216","TMEM218","TMEM231","TMEM237","TMEM67","TOGARAM1","TOPORS","TP63","TRAPPC2","TRAPPC9","TRIM8","TRIP13","TRPV4","TRRAP","TSR2","TUBA1A","TUBB","TWIST1","TXNDC15","TXNL4A","UBB","UBE2T","UFD1","USP9X","VANGL1","VANGL2","VAX1","VPS35L","WASHC5","WBP11","WDPCP","WDR11","WDR26","WDR35","WLS","WNT10A","WNT10B","WNT3","WNT4","WNT5A","WNT7A","WNT9B","XRCC2","XYLT1","YAP1","ZC4H2","ZEB2","ZIC2","ZMPSTE24","ZNF469","ZPR1","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CLEFT_UPPER_LIP":{"collection":"C5:HPO","systematicName":"M41218","pmid":"","exactSource":"HP:0000204","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000204","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CLEFT_UPPER_LIP","geneSymbols":["ACTB","ALX3","AMER1","ARHGAP31","ASXL1","B3GLCT","BCOR","CC2D2A","CDH1","CDON","CEP120","CHD7","CHUK","CILK1","COLEC10","COLEC11","CPLANE1","CPLX1","CTBP1","CTNND1","CYP26C1","DDX3X","DDX59","DEAF1","DHODH","DISP1","DLL1","DLX4","DVL1","DVL3","DYNC2H1","DYNC2I1","DYNC2I2","DYNC2LI1","EFNB1","EPG5","ESCO2","EVC","EVC2","FAM20C","FGD1","FGF20","FGF8","FGFR1","FGFRL1","FKRP","FKTN","FLII","FLNB","FOXA2","FOXC2","FOXH1","FRAS1","FREM2","FZD2","GAS1","GDF11","GFRA1","GJA1","GLI2","GLI3","GPC3","GPC4","GREB1L","GRHL3","GRIP1","H4C3","HESX1","HOXD13","HYLS1","IFT80","INTU","IQSEC2","IRF6","ITGA8","JUP","KANSL1","KAT5","KIF7","LARGE1","LETM1","LHX4","LMX1B","MASP1","MED12","MEIS2","MEOX1","MID1","MKS1","MSX1","MSX2","NAA10","NBN","NECTIN1","NEK1","NELFA","NIPBL","NODAL","NSD2","NSDHL","NUAK2","OFD1","OTX2","PAX3","PHF8","PHGDH","PIGG","PIGN","PIGV","PLCH1","POLR1B","POLR1C","POLR1D","POMT1","POMT2","PORCN","POU1F1","PROKR2","PROP1","PTCH1","RAB5IF","RAI1","RET","RIPK4","RPGRIP1L","RPL5","RPS19","RSPO2","SEMA3E","SF3B2","SF3B4","SHH","SIX3","SLC29A3","SLC2A10","SMAD4","SMC1A","SMO","SMOC1","SMPD4","SPECC1L","SPOP","STAG2","STIL","SUMO1","TAPT1","TCOF1","TCTN2","TCTN3","TDGF1","TFAP2A","TGDS","TGIF1","TMCO1","TP63","TRAPPC9","TXNL4A","VAX1","WDR35","WLS","WNT3","WNT5A","WNT9B","YAP1","ZIC2","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PURSED_LIPS":{"collection":"C5:HPO","systematicName":"M43252","pmid":"","exactSource":"HP:0000205","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000205","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PURSED_LIPS","geneSymbols":["HSPG2","LIFR","MYH3","MYL11","NALCN"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_GLOSSITIS":{"collection":"C5:HPO","systematicName":"M34604","pmid":"","exactSource":"HP:0000206","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000206","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GLOSSITIS","geneSymbols":["AMN","CLTRN","CUBN","HLA-B","HLA-DRB1","LMBRD1","MMACHC","P4HA2","PTPN22","SLC39A4","SLC46A1","SLC6A19"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_TRIANGULAR_MOUTH":{"collection":"C5:HPO","systematicName":"M34605","pmid":"","exactSource":"HP:0000207","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000207","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TRIANGULAR_MOUTH","geneSymbols":["BAP1","BUB1B","CHRNG","COLQ","DVL1","DVL3","ERCC2","GTPBP2","INPP5E","KIF7","LAMB2","NCAPG2","NXN","PIGA","PPP1CB","ROR2","SCN4A","SNRPN","TFAP2B","WNT5A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_TRISMUS":{"collection":"C5:HPO","systematicName":"M34606","pmid":"","exactSource":"HP:0000211","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000211","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TRISMUS","geneSymbols":["CLPB","COL2A1","CRLF1","EDNRA","GBA1","HSPG2","IL6ST","KCNC2","LIFR","MYH8","MYMK","PNKD","PRRT2","SF3B4","TPM2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_GINGIVAL_OVERGROWTH":{"collection":"C5:HPO","systematicName":"M34607","pmid":"","exactSource":"HP:0000212","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000212","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GINGIVAL_OVERGROWTH","geneSymbols":["ABCA5","ABCC9","ADAMTS2","ADAMTS3","AFF3","AGA","AIMP2","ANTXR2","ASXL3","ATG7","ATP6V1B2","BAZ1B","BCL7B","BCOR","BGN","BUD23","C1R","C1S","CCBE1","CD96","CLIP2","CNTNAP1","COL3A1","DDR2","DHCR7","DNAJC30","DNM1","DVL1","DVL3","EIF4H","ELN","EMC1","EXTL3","FAM20A","FAM20C","FAT4","FBXO28","FGF3","FGFR2","FIP1L1","FKBP6","FZD2","GLB1","GNAQ","GNPTAB","GPC3","GPC4","GTF2I","GTF2IRD1","GTF2IRD2","GUSB","HIVEP2","HYMAI","IDS","IDUA","IER3IP1","INSR","IRF2BP2","KCNH1","KCNJ6","KCNK4","KCNMA1","KCNN3","KIF1A","KIF7","LBR","LIMK1","LMNB1","MAN2B1","MAP1B","METTL27","MGAT2","MLXIPL","MMP14","MMP2","MYSM1","NABP1","NCF1","NEU1","NFIX","NPM1","NUMA1","NXN","OSTM1","PIGA","PIGN","PIGS","PLAGL1","PLG","PML","PRKAR1A","PRMT7","RALGAPA1","RARA","REST","RFC2","RIN2","RMRP","ROR2","SATB2","SC5D","SH3PXD2B","SLC17A5","SLC29A3","SLC35C1","SOS1","STAT3","STAT5B","STX1A","TBC1D24","TBC1D2B","TBCK","TBL1XR1","TBL2","TMCO1","TMEM270","TRIM8","TWIST2","USP9X","VPS13B","VPS37D","WNT5A","ZBTB16","ZEB2","ZNHIT3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_THICK_UPPER_LIP_VERMILION":{"collection":"C5:HPO","systematicName":"M34608","pmid":"","exactSource":"HP:0000215","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000215","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THICK_UPPER_LIP_VERMILION","geneSymbols":["ABCC9","APC","BRCA1","CDK13","CILK1","COL11A1","DENND5A","EBF3","GPC4","KDM4B","MINPP1","NAA10","NAA20","NOG","NSUN2","PAK3","RPS7","SC5D","SPATA5L1","STRADA","THOC6","TMEM53","TOE1","TWIST2","VPS51","WDR26"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_XEROSTOMIA":{"collection":"C5:HPO","systematicName":"M34609","pmid":"","exactSource":"HP:0000217","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000217","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_XEROSTOMIA","geneSymbols":["ANG","ANXA11","ATXN2","CAV1","CCN2","CCNF","CCR6","CFAP410","CHCHD10","CHMP2B","CHRM3","CLDN10","DAO","DCTN1","EDARADD","ELOVL1","EPHA4","ERBB4","FGF10","FGFR2","FGFR3","FIG4","FUS","GLE1","GLT8D1","GSN","HLA-DRB1","HNRNPA1","IRF5","LBR","MAGEL2","MATR3","NEFH","NEK1","NOD2","OPTN","PFN1","PON1","PON2","PON3","PPARGC1A","PRPH","SCN9A","SIM1","SLC12A2","SOD1","SQSTM1","TAF15","TARDBP","TBK1","TP63","TREM2","UBQLN2","UNC13A","VAPB","VCP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HIGH_PALATE":{"collection":"C5:HPO","systematicName":"M34610","pmid":"","exactSource":"HP:0000218","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000218","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HIGH_PALATE","geneSymbols":["AARS1","AASS","ABCC6","ABL1","ACTA1","ACTA2","ACTN2","ADA2","ADAM22","ADARB1","ADAT3","ADNP","AEBP1","AFF4","AGRN","AIFM1","AK9","AKT1","ALDH6A1","ALG14","ALG2","ALG3","AMER1","ANAPC7","ANK1","ANKRD11","ANO1","ANOS1","ANTXR1","AP1G1","AP1S2","AP4B1","AP4E1","AP4M1","AP4S1","APC","ARCN1","ARHGEF2","ARID1A","ARID1B","ARID2","ARL6","ARX","ASH1L","ASPH","ASXL3","ATAD1","ATG7","ATN1","ATP6V0A2","ATP6V1A","ATP6V1B2","ATP6V1E1","ATP7A","ATP9A","ATR","ATRX","B3GALT6","BAP1","BBS1","BCOR","BCR","BGN","BICRA","BIN1","BLNK","BLTP1","BMP2","BMP4","BMPR1A","BRAF","BRAT1","BRCA1","BRCA2","BRD4","BRIP1","CA2","CACNA1S","CACNA2D1","CAMSAP1","CAMTA1","CARS1","CASK","CBL","CBS","CCDC22","CCDC28B","CCDC47","CD79A","CD79B","CD96","CDC45","CDC6","CDH11","CDH2","CDK10","CDK19","CDON","CDT1","CEP152","CFL2","CHAMP1","CHAT","CHD3","CHKA","CHRNA1","CHRNB1","CHRND","CHRNE","CHRNG","CHST14","CHST3","CLCF1","CLCN3","CLP1","CLTC","CNOT1","CNTN1","CNTNAP1","COG1","COG5","COL11A1","COL12A1","COL13A1","COL1A2","COL2A1","COL3A1","COL5A1","COL6A1","COL6A2","COL6A3","COLEC11","COLQ","COPB1","COX14","COX6A2","CPLANE1","CPSF3","CPT2","CREBBP","CRKL","CRLF1","CSNK2A1","CTBP1","CTNNB1","CTNND2","CTSK","CTU2","CUL4B","DBH","DCHS1","DDHD2","DDR2","DDX11","DDX3X","DDX59","DDX6","DEAF1","DHPS","DHX30","DIS3L2","DISP1","DLG3","DLK1","DLL1","DMXL2","DOCK3","DOK7","DPAGT1","DPH5","DPM1","DPM2","DPYD","DPYSL5","DSE","DST","DVL1","DVL3","EBP","ECM1","EDEM3","EEF1A2","EFEMP2","EFL1","EFNB1","EIF2AK3","EIF4A3","ELN","ENPP1","EP300","EPG5","ERCC2","ERCC3","ERCC4","ERLIN2","ERMARD","ESCO2","EXOC7","EXOSC9","EYA1","FAM149B1","FAM20C","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FARSB","FAT4","FBN1","FBN2","FBXL3","FBXO28","FGF8","FGFR1","FGFR2","FGFR3","FH","FIG4","FLCN","FLNA","FLNB","FN1","FOXE3","FOXH1","FOXL2","FOXP2","FRA10AC1","FRAS1","FREM2","FRMPD4","FUT8","FZD2","G6PC3","GABRA3","GAS1","GATA1","GATA4","GATAD2B","GBA1","GEMIN4","GFPT1","GIPC1","GJA1","GJA5","GJA8","GLE1","GLI2","GMNN","GMPPB","GNB1","GNB2","GNE","GNPAT","GPC3","GPC4","GPT2","GRB10","GRIP1","GSC","GTF2E2","GTF2H5","H19","H4C5","HACD1","HBA1","HBA2","HDAC8","HEATR3","HECW2","HERC1","HEY2","HIVEP2","HNRNPH1","HNRNPH2","HNRNPK","HNRNPU","HOXB1","HPDL","HPGD","HRAS","HSD17B4","HSPA9","HSPG2","HUWE1","HYMAI","HYOU1","IBA57","IER3IP1","IFT122","IFT140","IGBP1","IGF1R","IGF2","IGHM","IGLL1","IL11RA","IL6ST","INSR","INTU","IPO8","IRX5","ITGA7","KANSL1","KBTBD13","KCNH1","KCNJ2","KCNJ5","KCNJ6","KCNK9","KCNMA1","KCNN3","KDM5C","KDM6A","KIAA0753","KIF26A","KIF7","KLHL41","KLHL7","KLLN","KMT2A","KMT2B","KMT2D","KPTN","KRAS","L1CAM","LAGE3","LAMB2","LETM1","LGI4","LIG4","LMBRD1","LMNA","LMOD3","LOX","LRP12","LRP4","LRRC8A","LTBP1","LTBP2","LZTR1","MAD2L2","MADD","MAMLD1","MAN2C1","MAP1B","MAP2K1","MAP2K2","MAP3K20","MAP3K7","MAPK1","MAPK8IP3","MAPKAPK5","MARS1","MAT2A","MCM3AP","MECP2","MED12","MED12L","MED13L","MED25","MEG3","MEGF10","MEGF8","MESD","MFAP5","MID1","MINPP1","MKKS","MN1","MOGS","MPLKIP","MRAS","MRPL12","MSTO1","MT-TE","MT-TN","MT-TS1","MTM1","MTX2","MUSK","MYBPC1","MYCN","MYH11","MYH2","MYH3","MYH7","MYL1","MYL11","MYL2","MYLK","MYMK","MYMX","MYO18B","MYO9A","MYOD1","MYPN","NAA10","NALCN","NCDN","NDUFA8","NDUFAF6","NEB","NEFL","NEK1","NEK9","NF1","NFIX","NIPBL","NODAL","NONO","NOTCH2","NOTCH2NLC","NOTCH3","NR2F1","NRAS","NRCAM","NSD1","NSDHL","NSRP1","NSUN2","NUP107","NUP188","NUP88","OBSL1","OCLN","ODC1","OFD1","OGDHL","ORC1","ORC4","ORC6","OSGEP","OTUD6B","PAFAH1B1","PAH","PAK3","PALB2","PAX1","PAX7","PCDHGC4","PCGF2","PCLO","PDE6D","PDHX","PDZD8","PEPD","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PGAP2","PGAP3","PGM2L1","PGM3","PHIP","PIEZO2","PIGA","PIGB","PIGH","PIGL","PIGN","PIGO","PIGT","PIGU","PIGV","PIGW","PIGY","PIK3CA","PIK3R1","PLAA","PLAGL1","PLCH1","PLOD1","PLXND1","PMM2","POGZ","POLR1B","POLR1C","POLR1D","POLR2A","POLRMT","POR","PPP1CB","PPP1R21","PPP2CA","PPP2R5D","PQBP1","PRKG1","PRMT7","PRPS1","PSAT1","PTCH1","PTDSS1","PTEN","PTPN11","PTPN14","PUM1","PURA","PUS1","PUS7","PYCR1","PYCR2","PYROXD1","QARS1","QRICH1","RAB18","RAB23","RAB3GAP1","RAB3GAP2","RAD21","RAD51","RAD51C","RAF1","RAPSN","RASA2","RBM10","RECQL4","REEP1","RERE","RET","REV3L","RFWD3","RFX7","RILPL1","RIN2","RIT1","RNASEH1","RNF113A","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS23","RPS24","RPS26","RPS27","RPS28","RPS29","RPS6KA3","RPS7","RRAS","RRAS2","RRM2B","RTL1","RUNX2","RUSC2","RYR1","RYR3","SATB2","SC5D","SCARF2","SCN4A","SCNM1","SCO2","SDHB","SDHC","SDHD","SEC23A","SEC23B","SEC24D","SEC31A","SELENON","SEMA5A","SET","SETBP1","SH3PXD2B","SHANK3","SHH","SHOC2","SHOX","SIAH1","SIK3","SIN3A","SIX1","SIX3","SKI","SLC10A7","SLC12A6","SLC17A5","SLC18A3","SLC25A1","SLC25A12","SLC25A24","SLC26A2","SLC2A10","SLC35A2","SLC39A13","SLC39A7","SLC5A7","SLC6A17","SLF2","SLX4","SMAD2","SMAD3","SMAD4","SMARCA2","SMARCB1","SMARCD1","SMC1A","SMC3","SMC5","SMCHD1","SMG9","SMOC1","SMS","SNAP25","SNIP1","SNRPB","SNRPN","SNX14","SON","SOS1","SOS2","SOX11","SOX6","SOX9","SP7","SPATA5L1","SPEG","SPEN","SPI1","SPOP","SPRED1","SPRED2","SPTBN1","SPTBN4","SRY","STAC3","STAG1","STAG2","STAT3","STIL","SURF1","SYNGAP1","SYT2","TAB2","TAF1","TAF6","TAOK1","TARS1","TASP1","TBC1D20","TBC1D24","TBCK","TBX1","TBX4","TCF3","TCOF1","TCTN3","TDGF1","TET3","TFAP2A","TGDS","TGFB2","TGFB3","TGFBR1","TGFBR2","TGIF1","THOC2","THSD4","TIMM50","TLK2","TMCO1","TMEM216","TNNI2","TNNT1","TNNT3","TOE1","TOGARAM1","TOPORS","TPM2","TPM3","TRIO","TRIP12","TRIP4","TRMU","TRPM3","TRPS1","TSPEAR","TSR2","TTC5","TTN","TUBB","TUBB3","TWIST1","TWIST2","TWNK","UBA1","UBE2T","UBE3B","UFC1","UPF3B","USF3","USP9X","VAC14","VAMP1","VPS13B","VPS35L","VPS51","WARS2","WASHC5","WDR11","WDR35","WDR4","WDR73","WLS","WNT5A","WNT7A","XRCC2","YARS1","YARS2","YWHAE","YY1","ZBTB20","ZBTB24","ZC4H2","ZDHHC9","ZIC2","ZMPSTE24","ZMYM2","ZNF292","ZNF341","ZNF668","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_THIN_UPPER_LIP_VERMILION":{"collection":"C5:HPO","systematicName":"M34611","pmid":"","exactSource":"HP:0000219","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000219","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THIN_UPPER_LIP_VERMILION","geneSymbols":["AARS1","ABCC9","ACTB","ACTG1","ADARB1","ADGRG6","ADNP","ADSL","AFF3","AFF4","AGL","AGO1","AGO2","AGR2","ALG12","ALG9","AMMECR1","ANKLE2","ANKRD11","ANKRD17","AP2M1","AP3B1","ARHGEF2","ARID1A","ARID1B","ARID2","ARX","ASPM","ASXL2","ASXL3","ATIC","ATN1","ATP6V1B2","ATP9A","ATRX","B3GLCT","B4GALT1","BCL11A","BCL11B","BCR","BMP2","BPTF","BUB1","CACNA1C","CCNK","CCNQ","CDC42","CDC42BPB","CDH11","CDH2","CDK10","CDK13","CDK5RAP2","CDK6","CENPE","CENPJ","CEP135","CEP152","CEP63","CHAMP1","CHD2","CHST14","CIT","CLCN3","CLCN6","CLP1","CLTC","CNOT2","COG1","COPB2","CPLX1","CREBBP","CRKL","CSNK2A1","CTCF","CTNNB1","CUX1","DCPS","DDB1","DDX59","DHPS","DPF2","DPM2","DSE","DVL1","DYRK1A","EBF3","EDEM3","EIF5A","EP300","EXOC2","EXOSC2","EXT1","FAR1","FBN1","FIG4","FOXG1","GAD1","GATAD2B","GJA5","GJA8","GLIS3","GNAI1","GNB2","GNE","H4C5","HDAC8","HERC2","HIVEP2","HK1","HS2ST1","HUWE1","IFIH1","IFT43","IGF1R","IRF6","IRX5","KAT6A","KAT6B","KATNB1","KCNJ2","KCNJ5","KCNK4","KCNMA1","KDM1A","KDM3B","KDM5C","KIF11","KIF14","KIF15","KMT2A","KMT2D","KNL1","LAS1L","LMBRD1","MAF","MAGEL2","MAN1B1","MAPK1","MAPK8IP3","MAPRE2","MBD5","MCM7","MCPH1","MCTP2","MED12","MED12L","MED13","MEF2C","MEIS2","METTL5","MFSD2A","MID1","MKRN3","MKS1","MPC1","MTOR","MYMX","MYO18B","NAA10","NALCN","NCAPD3","NDN","NEXMIF","NFIA","NIPBL","NOG","NONO","NPAP1","NUP37","OCA2","OCRL","ODC1","OGT","OPHN1","OTUD6B","PACS1","PACS2","PAK3","PBX1","PCGF2","PDE4D","PDGFRB","PGAP3","PGM2L1","PHC1","PIEZO2","PIGG","PIGK","PIGN","PIGQ","PIGU","PIGV","PITX2","PLPBP","PMM2","POGZ","POLR3A","PPM1D","PPP1CB","PPP1R15B","PPP2R5D","PQBP1","PRKAR1B","PRKDC","PSMD12","PTRH2","PUF60","PURA","PWAR1","PWRN1","PYCR2","QRICH1","RAD21","RAI1","RALA","RFX7","RHOBTB2","RNF135","RNU4ATAC","ROR2","RPL10","SARS1","SASS6","SATB2","SCN1A","SEC23A","SETBP1","SETD5","SH3PXD2B","SHMT2","SIM1","SIN3A","SLC25A24","SLC26A2","SLC2A1","SLC6A1","SLC9A7","SMAD4","SMARCA2","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SMC1A","SMC3","SMPD4","SNORD115-1","SNORD116-1","SNRPN","SOX11","SOX4","SPECC1L","SPEN","SPTBN1","SRCAP","STAG2","STEEP1","STIL","STT3A","SYNGAP1","SYT1","TAF1","TAF13","TAF6","TASP1","TBC1D24","TBCE","TBL1XR1","TCF20","THUMPD1","TLK2","TMEM147","TMEM94","TNRC6B","TPR","TRAPPC10","TRAPPC14","TRAPPC9","TRIO","TRIP12","TRMT10A","TRPS1","TRRAP","TTC5","TUBGCP2","UBE3B","UNC80","USP9X","VPS35L","VPS51","WAC","WARS1","WARS2","WASHC4","WDR19","WDR62","WNT5A","ZBTB18","ZNF292","ZNF407","ZNF526"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_VELOPHARYNGEAL_INSUFFICIENCY":{"collection":"C5:HPO","systematicName":"M34612","pmid":"","exactSource":"HP:0000220","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000220","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VELOPHARYNGEAL_INSUFFICIENCY","geneSymbols":["ARHGAP29","ARHGEF38","BICRA","BMP4","CDH1","COBLL1","DGCR2","DGCR6","DGCR8","DLG1","DLX4","ESS2","GRHL3","IRF6","MSX1","MYMX","NECTIN1","NEK1","PDGFRA","RAD21","RAI1","RIC1","RLIM","SF3B4","SIAH1","TBX1","THOC6","TP63","TUBB6","TWIST1","TWIST2","UBB"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FURROWED_TONGUE":{"collection":"C5:HPO","systematicName":"M34613","pmid":"","exactSource":"HP:0000221","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000221","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FURROWED_TONGUE","geneSymbols":["AKT1","B9D1","B9D2","CC2D2A","CEP290","CSPP1","ECEL1","GJB2","GPC3","GPC4","HNRNPK","IL36RN","INSR","KDM5C","KLLN","KRT6A","MED25","MKS1","PIK3CA","PTEN","RAB3GAP1","RAB3GAP2","RERE","RPGRIP1","RPGRIP1L","SDHB","SDHC","SDHD","SEC23B","SLC39A4","SOX5","SREBF1","TCTN1","TCTN2","TCTN3","TMEM107","TMEM216","TMEM231","TMEM237","TMEM67","TXNDC15","USF3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_TASTE_SENSATION":{"collection":"C5:HPO","systematicName":"M34614","pmid":"","exactSource":"HP:0000223","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000223","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_TASTE_SENSATION","geneSymbols":["ELP1","KIF1A","RETREG1","SCN9A","SLC39A4","TRANK1","WNK1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_GINGIVAL_BLEEDING":{"collection":"C5:HPO","systematicName":"M34615","pmid":"","exactSource":"HP:0000225","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000225","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GINGIVAL_BLEEDING","geneSymbols":["ADAMTS2","BCOR","BLOC1S3","BLOC1S5","C1R","C1S","CAT","ELMO2","F10","F13A1","F13B","F2","F5","F7","F8","FCGR2C","FGA","FGB","FGG","FIP1L1","GBA1","GP1BA","GP1BB","GP9","HPS1","HPS3","IFNG","IL18BP","IRF2BP2","ITGA2B","ITGB3","JAK2","KIF23","LMAN1","LYST","MCFD2","MPL","MYD88","NABP1","NPM1","NUMA1","PML","PRF1","PRKAR1A","RACGAP1","RARA","SBDS","SCARB2","SERPINF2","STAT3","STAT5B","TBL1XR1","TERC","TERT","TET2","WAS","WIPF1","ZBTB16"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_GINGIVITIS":{"collection":"C5:HPO","systematicName":"M34616","pmid":"","exactSource":"HP:0000230","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000230","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GINGIVITIS","geneSymbols":["ALMS1","B4GALT7","CAT","CD40LG","CLPB","CLTRN","COL3A1","CTSC","CYBA","CYBB","CYBC1","ELANE","ELOVL4","FERMT1","GFI1","GJB2","GJB6","IL6ST","IRF9","ITGB2","KRT6A","LYST","NCF1","NCF2","NCF4","OCRL","PLEKHM1","PLG","SAMD9","SLC37A4","SLC6A19","SRP19","SRP54","STAT3","TCIRG1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_EVERTED_LOWER_LIP_VERMILION":{"collection":"C5:HPO","systematicName":"M46053","pmid":"","exactSource":"HP:0000232","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000232","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EVERTED_LOWER_LIP_VERMILION","geneSymbols":["ABCA12","ABHD5","ADAMTS2","ADNP","ALOX12B","ALOXE3","ANTXR1","ASPRV1","ASXL3","ATRX","BAZ1B","BCAS3","BCL11A","BCL7B","BDNF","BMP2","BUD23","CCDC8","CDH11","CDKL5","CHAMP1","CHN1","CLIC2","CLIP2","CUL7","CYP4F22","DENND5A","DHX30","DNAJC30","DOCK7","EDA","EDA2R","EDAR","EDARADD","EDNRA","EEF1A2","EHMT1","EIF4H","ELN","ERCC1","ERCC2","ERCC5","ERCC6","FBXL4","FBXO11","FGD1","FHL1","FKBP6","FOXC1","FOXG1","FRMD4A","GBA1","GTF2I","GTF2IRD1","GTF2IRD2","H3-3A","HGSNAT","HRAS","HSPG2","IDUA","IFT122","IFT43","IFT52","IGF1R","IRX5","KANSL1","KCNH1","KCNMA1","KIFBP","KMT2C","LIMK1","LIPN","MAFB","MBD5","MCOLN1","MDH1","MECP2","MED12L","MED13L","MED25","METTL27","MGAT2","MLXIPL","MSX1","MYCN","MYO18B","NCF1","NFIX","NIPAL4","NRAS","OBSL1","OCRL","PACS2","PAX6","PCDHGC4","PIGL","PITX2","PLXND1","POMGNT1","PUS7","QRICH1","RAB3GAP1","RAB3GAP2","REV3L","RFC2","RPL10","RPS6KA3","SALL4","SCARF2","SDR9C7","SLC25A24","SMARCA2","SMG9","SMS","SNRPN","SOX11","SPECC1L","SRCAP","STX1A","SULT2B1","TBC1D24","TBL1XR1","TBL2","TFAP2A","TFAP2B","TFE3","TGM1","TMEM147","TMEM270","TNPO2","TTC26","VPS37D","WDR19","WDR35","WT1","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_THIN_VERMILION_BORDER":{"collection":"C5:HPO","systematicName":"M34617","pmid":"","exactSource":"HP:0000233","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000233","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THIN_VERMILION_BORDER","geneSymbols":["AARS1","ABCC9","ABL1","ACSL4","ACTB","ACTG1","ADARB1","ADGRG6","ADNP","ADSL","AFF3","AFF4","AGL","AGO1","AGO2","AGR2","ALG1","ALG12","ALG9","AMMECR1","ANKLE2","ANKRD11","ANKRD17","AP2M1","AP3B1","ARHGEF2","ARID1A","ARID1B","ARID2","ARX","ASPM","ASXL2","ASXL3","ATIC","ATN1","ATP6V1B2","ATP9A","ATRX","B3GLCT","B4GALT1","BANF1","BCL11A","BCL11B","BCR","BMP1","BMP2","BPTF","BRAT1","BRD4","BUB1","CACNA1C","CAMTA1","CCNK","CCNQ","CD96","CDC42","CDC42BPB","CDH11","CDH2","CDK10","CDK13","CDK5RAP2","CDK6","CENPE","CENPJ","CEP135","CEP152","CEP63","CHAMP1","CHD2","CHST14","CIT","CITED2","CKAP2L","CLCN3","CLCN6","CLP1","CLTC","CNOT2","COG1","COL3A1","COPB2","CPLX1","CREBBP","CRKL","CSNK2A1","CTCF","CTNNB1","CUX1","DCPS","DDB1","DDRGK1","DDX59","DHPS","DNMT3A","DPF2","DPM2","DSE","DVL1","DYNC2LI1","DYRK1A","EBF3","EDEM3","EIF5A","EP300","ERCC6","EVC","EVC2","EXOC2","EXOSC2","EXT1","FAR1","FBN1","FIG4","FLT4","FMR1","FOXG1","FTO","GAD1","GATA4","GATA5","GATA6","GATAD2B","GDF1","GJA1","GJA5","GJA8","GLI1","GLIS3","GLUL","GNAI1","GNB2","GNE","GRB10","H4C5","HDAC4","HDAC8","HERC2","HIVEP2","HK1","HMGA2","HNRNPU","HS2ST1","HS6ST2","HUWE1","IARS2","IDH1","IFIH1","IFT43","IGF1R","IRF6","IRX5","JAG1","KAT6A","KAT6B","KATNB1","KCNE5","KCNJ2","KCNJ5","KCNK4","KCNMA1","KDM1A","KDM3B","KDM5B","KDM5C","KDR","KIF11","KIF14","KIF15","KIF7","KMT2A","KMT2D","KNL1","KNSTRN","LAS1L","LEMD3","LIFR","LIG4","LMBRD1","LMNA","LMX1B","MAF","MAGEL2","MAN1B1","MAPK1","MAPK8IP3","MAPKAPK5","MAPRE2","MBD5","MCM7","MCPH1","MCTP2","MED12","MED12L","MED13","MEF2C","MEIS2","METTL23","METTL5","MFSD2A","MGAT2","MID1","MKRN3","MKS1","MPC1","MPDU1","MTOR","MYL11","MYMK","MYMX","MYO18B","NAA10","NALCN","NBAS","NCAPD3","NDN","NDP","NEXMIF","NF1","NFIA","NIPBL","NKX2-5","NKX2-6","NOG","NONO","NOTCH2","NPAP1","NSD2","NUP37","OCA2","OCRL","ODC1","OGT","OPHN1","OTUD6B","PACS1","PACS2","PAK3","PBX1","PCGF2","PDE4D","PDGFRB","PGAP3","PGM2L1","PHC1","PHIP","PIEZO2","PIGG","PIGK","PIGN","PIGQ","PIGU","PIGV","PIK3CD","PITX2","PLPBP","PMM2","POGZ","POLR3A","PPM1D","PPP1CB","PPP1R15B","PPP2R3C","PPP2R5D","PQBP1","PRKACA","PRKACB","PRKAR1B","PRKDC","PRMT7","PRORP","PSMD12","PTRH2","PUF60","PURA","PWAR1","PWRN1","PYCR1","PYCR2","QRICH1","RAB3GAP1","RAD21","RAI1","RALA","RECQL","RECQL4","RFX7","RHOBTB2","RNF135","RNU4ATAC","ROR2","RPL10","RPS23","RUNX2","SARS1","SASS6","SATB2","SC5D","SCN1A","SCYL2","SEC23A","SETBP1","SETD5","SH3PXD2B","SHMT2","SHOC2","SIM1","SIN3A","SLC25A24","SLC26A2","SLC2A1","SLC45A1","SLC6A1","SLC9A7","SMAD4","SMARCA2","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SMC1A","SMC3","SMOC1","SMPD4","SNORD115-1","SNORD116-1","SNRPN","SON","SOX11","SOX4","SPECC1L","SPEN","SPOP","SPTBN1","SRCAP","STAG2","STEEP1","STIL","STT3A","STXBP1","SYNGAP1","SYT1","TAF1","TAF13","TAF6","TALDO1","TASP1","TBC1D24","TBCE","TBL1XR1","TBX1","TCF20","THOC6","THUMPD1","TLK2","TMEM147","TMEM94","TNRC6B","TPR","TRAPPC10","TRAPPC14","TRAPPC9","TRIO","TRIP12","TRMT10A","TRPS1","TRRAP","TTC5","TTI2","TUBGCP2","TWIST2","TXNL4A","UBE2A","UBE3B","UNC80","USP9X","VAC14","VPS35L","VPS51","WAC","WARS1","WARS2","WASHC4","WDR19","WDR62","WNT5A","XRCC4","XYLT2","ZBTB18","ZFPM2","ZMPSTE24","ZNF292","ZNF407","ZNF526"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_FONTANELLES_OR_CRANIAL_SUTURES":{"collection":"C5:HPO","systematicName":"M34618","pmid":"","exactSource":"HP:0000235","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000235","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_FONTANELLES_OR_CRANIAL_SUTURES","geneSymbols":["AARS1","AASS","ABCC8","ACE","ACTA1","ACTB","ACTG1","ADAMTS2","ADAMTS3","ADAMTSL1","ADARB1","ADSL","AFF4","AGO2","AGT","AGTR1","AHDC1","AIFM1","AKT1","ALDH18A1","ALG1","ALG8","ALG9","ALPL","ALX4","AMER1","ANKRD11","ANTXR1","APC2","ARID2","ARVCF","ARX","ASPA","ASXL1","ASXL3","ATIC","ATP6V0A2","ATP6V1A","ATP6V1B2","ATP6V1E1","ATP7A","ATR","ATRIP","ATRX","B3GALT6","B3GAT3","B3GLCT","B4GALT7","BANF1","BCL11B","BICRA","BMP1","BMP4","BMPER","BPNT2","CAMSAP1","CARS1","CASZ1","CAV1","CBFB","CCBE1","CCDC134","CCDC22","CCNQ","CDC45","CDC6","CDH11","CDK8","CDKN1C","CDT1","CENPE","CENPJ","CEP120","CEP152","CEP57","CHD4","CHD5","CHST14","CHST3","CHUK","CLCN3","CLCN7","COG4","COL11A1","COL11A2","COL1A1","COL1A2","COL25A1","COLEC10","COLEC11","COMT","COX5A","CREB3L1","CREBBP","CRTAP","CTCF","CTSD","CTSK","CWC27","CYP26B1","CYP27B1","CYP2R1","DCHS1","DDB1","DDR2","DDX3X","DDX6","DIAPH1","DICER1","DLK1","DMP1","DNA2","DNMT3A","DONSON","DPF2","DPH1","DPH2","DPYSL5","DSE","DUOX2","DUOXA2","DVL1","EBP","EFEMP2","EFNB1","ELN","ENPP1","EP300","ERCC1","ERCC2","ERCC3","ERCC5","ERCC6","ERF","ERMARD","ESCO2","ETFA","ETFB","ETFDH","EXOC8","EXTL3","FAM111A","FAM20C","FAT4","FBLN5","FBN1","FGFR1","FGFR2","FGFR3","FIG4","FKBP10","FLNA","FLNB","FOXE1","FOXG1","FREM1","GABRD","GCK","GH1","GJA1","GJA5","GJA8","GLI3","GLIS3","GMNN","GNPAT","GNPTAB","GORAB","GP1BB","GPC3","GPC4","GPC6","GPX4","GRB10","GTF2E2","GTF2H5","H19","H3-3B","H4C9","HDAC4","HERC1","HESX1","HIRA","HNF1B","HNRNPK","HNRNPU","HOXD13","HPGD","HRAS","HSD17B4","HSPG2","HUWE1","HYMAI","IFITM5","IFT122","IFT140","IFT43","IFT52","IGF2","IL11RA","IL6ST","INPPL1","INS","INTU","IPO8","IRX5","IYD","JMJD1C","KANSL1","KAT6A","KCNAB2","KCNJ11","KCNQ1","KCNQ1OT1","KDELR2","KDM4B","KDM5B","KIF1A","KIF7","KLF1","KLHL40","KLHL41","KPTN","KRAS","KRT14","KRT5","LEMD2","LHX1","LHX3","LHX4","LIG4","LMNA","LMOD3","LMX1B","LRP2","LRP5","LTBP1","LTBP4","LUZP1","MAF","MAN2B1","MAP1B","MAP3K7","MAPK1","MASP1","MED12","MEG3","MEGF8","MESD","MID1","MMP14","MMP2","MMP23B","MPDU1","MPLKIP","MSX2","MTOR","MTX2","MVK","MYCN","MYH3","NAA10","NARS2","NCAPG2","NDE1","NDUFAF3","NEB","NEPRO","NFASC","NFIA","NFIX","NKX2-1","NKX2-5","NLRP3","NOTCH2","NOTCH3","NPHP3","NSD1","NSMCE3","NSRP1","NSUN2","NUP188","NUP85","ORC1","ORC4","ORC6","OTUD5","P3H1","P4HB","PAM16","PAX8","PCDHGC4","PCGF2","PCNT","PDGFRB","PDPN","PDX1","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PHEX","PIEZO2","PIGA","PIGO","PIGQ","PIGT","PLAGL1","PLK4","PLOD2","POGZ","POLA1","POLR3A","POR","POU1F1","PPFIBP1","PPIB","PPP1CB","PPP1R21","PPP2R1A","PPP2R5D","PPP3CA","PRDM16","PRIM1","PRKCZ","PRKG2","PROP1","PSAT1","PTCH1","PTDSS1","PTEN","PURA","PYCR1","RAB23","RAC3","RBBP8","RBM10","RECQL4","REN","RERE","RETREG1","RNF113A","RNF125","RNU12","RNU4ATAC","ROR2","RPS19","RPS6KA3","RREB1","RSPRY1","RTL1","RTTN","RUNX2","SC5D","SCARF2","SCN9A","SCUBE3","SEC23A","SEC24C","SEC24D","SETBP1","SETD1A","SETD2","SH2B1","SH3PXD2B","SHPK","SIX2","SKI","SLC12A6","SLC25A19","SLC25A24","SLC26A4","SLC2A10","SLC34A3","SLC35A2","SLC39A8","SLC5A5","SMAD3","SMAD6","SMARCD1","SMC3","SMG9","SMO","SNX10","SON","SOX9","SP7","SPECC1L","SPEN","SPTBN1","SRCAP","STAT3","STXBP1","TALDO1","TANC2","TAPT1","TARS1","TBC1D24","TBCE","TBCK","TBX1","TCF12","TCIRG1","TENT5A","TG","TGFBR1","TGFBR2","THRA","TLK2","TMCO1","TMEM216","TNFSF11","TOGARAM1","TPO","TRAIP","TRPV6","TSHB","TSHR","TWIST1","UBE4B","UBR1","UFD1","USP7","VAC14","VARS1","VDR","VPS35L","WASHC5","WDR19","WDR35","WNK1","WNT5A","WT1","YY1","ZEB2","ZFHX4","ZIC1","ZMPSTE24","ZNF292","ZNF462","ZNF699","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_ANTERIOR_FONTANELLE":{"collection":"C5:HPO","systematicName":"M34619","pmid":"","exactSource":"HP:0000236","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000236","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_ANTERIOR_FONTANELLE","geneSymbols":["ADAMTS2","ALG9","AMER1","ANKRD11","ANTXR1","ARX","ASPA","ATP6V0A2","ATP6V1A","ATP6V1E1","ATP7A","ATR","B3GLCT","BANF1","CBFB","CCDC22","CDC45","CDH11","CHUK","COG4","COL11A1","COL11A2","COL1A1","COL1A2","COX5A","CREBBP","CRTAP","CTSK","DCHS1","DDR2","DDX3X","DICER1","DLK1","DPYSL5","DSE","DVL1","EBP","EFEMP2","EP300","ETFA","ETFB","ETFDH","FAM111A","FAT4","FBLN5","FGFR2","FGFR3","FLNA","GH1","GLI3","GLIS3","GNPTAB","GRB10","H19","HDAC4","HRAS","HYMAI","IFT140","IGF2","INTU","KIF7","KLF1","LIG4","LRP2","LTBP1","MASP1","MED12","MEG3","MID1","MMP2","MPDU1","MTOR","MYCN","NAA10","NCAPG2","NDUFAF3","NEPRO","NFASC","NLRP3","NSMCE3","NSUN2","ORC1","P3H1","PCGF2","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PIEZO2","PIGQ","PLAGL1","POLR3A","POR","PPP2R5D","RECQL4","RNU12","RNU4ATAC","ROR2","RPS6KA3","RTL1","RUNX2","SEC23A","SETBP1","SH3PXD2B","SIX2","SKI","SLC25A19","SLC25A24","SMC3","SMG9","SOX9","TALDO1","TBCE","TSHB","TWIST1","UBR1","VARS1","VPS35L","WNT5A","WT1","ZIC1","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SMALL_ANTERIOR_FONTANELLE":{"collection":"C5:HPO","systematicName":"M34620","pmid":"","exactSource":"HP:0000237","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000237","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SMALL_ANTERIOR_FONTANELLE","geneSymbols":["ATR","EBP","HYMAI","MYCN","NFASC","ORC1","PLAGL1","RNU4ATAC","SLC25A19","VARS1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYDROCEPHALUS":{"collection":"C5:HPO","systematicName":"M34621","pmid":"","exactSource":"HP:0000238","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000238","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYDROCEPHALUS","geneSymbols":["AHI1","AKT1","AKT3","ALDH7A1","ALG13","AMER1","AP1S2","ARHGAP31","ARL13B","ARL3","ARMC9","ARSB","ARVCF","B3GALNT2","B3GALT6","B3GAT3","B3GLCT","B4GALT1","B4GAT1","B9D1","B9D2","BAP1","BICRA","BLTP1","BRAF","BRCA1","BRCA2","BRIP1","BUB1B","CBY1","CC2D2A","CCDC103","CCDC22","CCDC39","CCDC40","CCDC65","CCDC88C","CCL2","CCND2","CCNO","CDC40","CDC42BPB","CDCA7","CDON","CENPF","CEP104","CEP120","CEP290","CEP41","CEP83","CFAP221","CFAP298","CFAP300","CFAP43","CFAP74","CHST3","CILK1","CLCN3","CLCN7","CLIC2","COG6","COL18A1","COL4A1","COMT","COX7B","CPLANE1","CPLX1","CPT2","CRB2","CRPPA","CRTAP","CSF1R","CSPP1","CTBP1","CTNNA2","CTNNB1","CYP26C1","DAG1","DCC","DENND5A","DHCR24","DHCR7","DISP1","DLL1","DLL4","DNAAF1","DNAAF11","DNAAF2","DNAAF3","DNAAF4","DNAAF5","DNAAF6","DNAH1","DNAH11","DNAH5","DNAH9","DNAI1","DNAI2","DNAJB13","DNAL1","DNMT3B","DOCK6","DPH1","DPH2","DPYSL5","DRC1","EBP","EML1","EOGT","EPHB4","ERCC2","ERCC3","ERCC4","ERCC5","ERCC6","ERCC8","ERF","ESCO2","FAM111A","FAM20C","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FBN1","FGF8","FGFR1","FGFR2","FGFR3","FGFRL1","FIG4","FKRP","FKTN","FLNA","FLVCR2","FOXH1","FOXJ1","FRAS1","FTO","FUZ","GALC","GAS1","GAS2L2","GAS8","GBA1","GCDH","GFAP","GLI2","GLI3","GMPPB","GNAQ","GP1BB","GPC3","GPC4","GPSM2","GRIP1","GUSB","H4C9","HBA1","HBA2","HCCS","HDAC6","HELLS","HERC1","HES7","HIRA","HNRNPU","HRAS","HSPG2","HYDIN","HYLS1","IARS2","IDS","IDUA","IFNG","IFT172","IFT43","IFT74","INPP5E","IRF4","JMJD1C","KANSL1","KATNIP","KDM4B","KDM6A","KIAA0586","KIAA0753","KIF1A","KIF26A","KIF7","KMT2D","KRAS","L1CAM","LAMB1","LARGE1","LETM1","LIG4","LMBR1","LRRC56","MAD2L2","MAF","MAN2B1","MAP2K1","MAP2K2","MBTPS2","MC1R","MCIDAS","MED12","MFN2","MKS1","MMACHC","MPDZ","MT-CYB","MTHFR","MTM1","MTRR","MUSK","MYT1L","NADK2","NDUFB11","NEK10","NEU1","NF1","NF2","NFIX","NKX3-2","NME5","NME8","NODAL","NOTCH1","NOTCH2","NOTCH3","NPHP1","NRAS","NRCAM","NSD2","NSUN2","ODAD1","ODAD2","ODAD3","ODAD4","OFD1","OGDH","OSTM1","P4HB","PAK2","PAK3","PALB2","PDE6D","PDGFB","PEX19","PIBF1","PIEZO2","PIGU","PIGV","PIK3CA","PIK3R2","PLCH1","PLG","POLR3A","POMGNT1","POMGNT2","POMK","POMT1","POMT2","POR","PORCN","PPIL1","PPP1CB","PPP2R1A","PPP2R5D","PRDX1","PRKAG2","PRKAR1A","PTCH1","PTCH2","PTDSS1","PTEN","PYCR1","RAC3","RAD51","RAD51C","RASA1","RBPJ","RECQL4","RFWD3","RNASEH2A","RNF125","RNU4ATAC","ROBO1","ROGDI","RPGR","RPGRIP1","RPGRIP1L","RREB1","RSPH1","RSPH3","RSPH4A","RSPH9","RSPO2","RXYLT1","SALL1","SAMD9","SCN4A","SEC24C","SEC24D","SETD2","SF3B2","SF3B4","SHH","SHOC2","SIK3","SIX3","SKI","SLC13A5","SLC17A5","SLC25A24","SLC29A3","SLC2A1","SLX4","SMARCB1","SMARCC1","SMARCE1","SMC1A","SMO","SMOC1","SNX10","SOX2","SOX9","SPAG1","SPEF2","SPTBN1","STAG2","STIL","STK36","SUFU","SUMF1","TAF2","TAOK1","TBC1D7","TBX1","TBX15","TBXT","TCIRG1","TCTN1","TCTN2","TCTN3","TDGF1","TERT","TGFBR1","TGFBR2","TGIF1","TMEM107","TMEM138","TMEM216","TMEM218","TMEM222","TMEM231","TMEM237","TMEM67","TNFRSF11A","TNFSF11","TOE1","TOGARAM1","TP53","TRAF7","TREM2","TRIM71","TRMT1","TRNT1","TRPV4","TRPV6","TSC1","TSC2","TTC12","TTC26","TUBB3","TXNDC15","TYROBP","UBE2T","UFD1","UNC45A","USP7","VAC14","VANGL1","VANGL2","VPS33A","VPS35L","VSX1","WASHC5","WDR81","WNT3","XRCC2","ZBTB20","ZBTB24","ZIC2","ZIC3","ZMYND10","ZNF423","ZNHIT3","ZPR1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LARGE_FONTANELLES":{"collection":"C5:HPO","systematicName":"M46054","pmid":"","exactSource":"HP:0000239","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000239","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LARGE_FONTANELLES","geneSymbols":["ACE","ACTA1","ACTB","ACTG1","ADAMTS2","AGT","AGTR1","ALDH18A1","ALG1","ALG8","ALG9","ALPL","AMER1","ANTXR1","ARX","ASXL3","ATP6V0A2","ATP7A","B3GLCT","BMPER","CAV1","CBFB","CCDC22","CDC45","CDH11","CDKN1C","CHST14","CHUK","CLCN3","COG4","COL11A1","COL11A2","COL1A1","COL1A2","COX5A","CREBBP","CRTAP","CYP27B1","CYP2R1","DCHS1","DDR2","DDX3X","DICER1","DLK1","DSE","DUOX2","DUOXA2","DVL1","EBP","EFEMP2","EP300","ETFA","ETFB","ETFDH","FAM20C","FAT4","FBLN5","FGFR2","FGFR3","FIG4","FLNA","FOXE1","GJA1","GLI3","GLIS3","GNPAT","GPX4","HESX1","HNF1B","HOXD13","HPGD","HRAS","HSD17B4","IFT140","IGF2","INPPL1","INTU","IYD","KCNQ1","KCNQ1OT1","KIF7","KLF1","KLHL40","KLHL41","LHX1","LHX3","LHX4","LIG4","LMNA","LMOD3","LRP2","LTBP1","LTBP4","MAF","MASP1","MED12","MEG3","MID1","MPDU1","MSX2","MTOR","MVK","NAA10","NDUFAF3","NEB","NEPRO","NKX2-1","NKX2-5","NPHP3","NSMCE3","NSUN2","P3H1","PAM16","PAX8","PCGF2","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PIEZO2","PIGA","PIGQ","POLR3A","POR","POU1F1","PPP2R5D","PROP1","PTDSS1","PYCR1","RBM10","RECQL4","REN","RNU12","ROR2","RTL1","RUNX2","SEC23A","SETBP1","SH3PXD2B","SHPK","SIX2","SKI","SLC25A24","SLC26A4","SLC34A3","SLC5A5","SMG9","SOX9","SPTBN1","TALDO1","TG","TPO","TSHB","TSHR","TWIST1","USP7","VDR","VPS35L","WNT5A","WT1","ZMPSTE24","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PARIETAL_BOSSING":{"collection":"C5:HPO","systematicName":"M34623","pmid":"","exactSource":"HP:0000242","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000242","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PARIETAL_BOSSING","geneSymbols":["FGFR3","FIG4","KRAS","MPDU1","POLR3A","PTCH1","PTPN11","RUNX2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_TRIGONOCEPHALY":{"collection":"C5:HPO","systematicName":"M34624","pmid":"","exactSource":"HP:0000243","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000243","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TRIGONOCEPHALY","geneSymbols":["ACTB","ACTG1","ADNP","ARHGEF9","ASXL1","ASXL3","C2CD3","CD96","CHD4","DPF2","DPH1","DPH2","DPM1","DPM2","EFTUD2","FGFR1","FGFR2","FLCN","FLI1","FREM1","FRMPD4","GLI3","GNPTAB","GPC3","GPC4","GTF2H5","HUWE1","IFT140","IL11RA","LMNB1","LMNB2","MEGF8","MSX2","MYSM1","NUP188","PDHX","PLOD1","PPP3CA","PTCH1","RB1","SLC6A9","SOX4","USP7","ZIC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BRACHYTURRICEPHALY":{"collection":"C5:HPO","systematicName":"M34625","pmid":"","exactSource":"HP:0000244","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000244","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BRACHYTURRICEPHALY","geneSymbols":["FAM20C","FGFR1","FGFR2","FHL1","PEX1","RECQL4","SKI","SP7","SYT1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_PARANASAL_SINUS_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M34626","pmid":"","exactSource":"HP:0000245","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000245","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PARANASAL_SINUS_MORPHOLOGY","geneSymbols":["ACP5","ADA","ADA2","AGA","ALMS1","ALX1","ALX3","AMER1","ATM","ATRX","BLNK","BTK","C4B","CCDC103","CCDC39","CCDC40","CCDC65","CCNO","CD19","CD79A","CD79B","CEACAM3","CEACAM6","CFAP221","CFAP298","CFAP300","CFAP45","CFAP52","CFAP74","CFI","CFTR","CIITA","CLCA4","COL11A1","COL5A1","COL5A2","CR2","CSPP1","CTLA4","CTSK","CXCR4","CYBA","CYBB","CYBC1","DCTN4","DNAAF1","DNAAF11","DNAAF2","DNAAF3","DNAAF4","DNAAF5","DNAAF6","DNAH1","DNAH11","DNAH5","DNAH7","DNAH9","DNAI1","DNAI2","DNAJB13","DNAJC21","DNAL1","DNMT3B","DOCK8","DRC1","EDNRA","EFL1","ELANE","FCGR2A","FCGR3A","FLNA","FMR1","FOXJ1","FUCA1","GAS2L2","GAS8","GCLC","GSTM3","HFE","HLA-DPA1","HLA-DPB1","HMOX1","HYDIN","ICOS","IGHG2","IGHM","IGKC","IGLL1","IGSF3","IKBKB","IKBKG","IL17RA","IL21R","IL2RG","IRF2BP2","IRF8","IVNS1ABP","KCNJ2","KCNN4","LIG4","LRBA","LRRC56","LRRC8A","MAGT1","MAN2B1","MCIDAS","MDM4","MGP","MIF","MPDU1","NBN","NCF1","NCF2","NCF4","NEK10","NF1","NFKB1","NFKB2","NFKBIA","NME5","NME8","NOTCH2","ODAD1","ODAD2","ODAD3","ODAD4","OFD1","PDE11A","PGM3","PIK3CD","PIK3R1","PNP","PRKAR1A","PRKCD","PRTN3","PSMB4","PSMB8","PSMB9","PTEN","PTPN22","RAC2","RFX5","RFXANK","RFXAP","RNF168","RPGR","RSPH1","RSPH3","RSPH4A","RSPH9","RUNX2","SASH3","SBDS","SERPINA1","SFRP4","SH3KBP1","SIX2","SLC11A1","SLC26A9","SLC39A7","SLC6A14","SLC9A3","SMCHD1","SPAG1","SPEF2","SPI1","SRP54","STK36","STK4","STX1A","STXBP2","TAP1","TAP2","TAPBP","TBX1","TCF3","TGFB1","TMCO1","TNFRSF13B","TNFRSF13C","TNFRSF9","TRIM37","TTC12","UNC119","USB1","WAS","WIPF1","ZMYND10","ZNF341"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BRACHYCEPHALY":{"collection":"C5:HPO","systematicName":"M34627","pmid":"","exactSource":"HP:0000248","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000248","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BRACHYCEPHALY","geneSymbols":["ACOX1","ADAMTS10","ADAMTSL1","ADARB1","ADNP","ADSL","AGA","ALDH18A1","ALG9","ALX1","ALX4","AMER1","ANKRD11","ANKRD17","ARID1B","ATIC","ATP2B1","ATP6V1B2","ATP7A","AUTS2","B3GAT3","B3GLCT","BAP1","BMP4","BRAF","BRD4","BUB1B","CA2","CAMK2A","CASZ1","CCDC47","CD19","CD81","CDH11","CDK10","CHST14","CHST3","CLCN3","CNOT3","COL11A1","COL2A1","CR2","CTU2","CYP26B1","DDX3X","DEAF1","DPH1","DPH2","DPYSL5","DSE","EFNB1","EHMT1","ERF","ESCO2","EXT2","FAM20C","FBN1","FBN2","FGFR1","FGFR2","FGFR3","FHL1","FKBP10","FKTN","FLII","FOXF1","FREM1","FUCA1","GABRD","GALNT2","GATA1","GBA1","GET4","GJA1","GJA5","GJA8","GNB2","GOLGA2","GRIA3","H3-3B","H4C5","HCFC1","HDAC4","HDAC8","HNRNPR","HSPA9","HSPG2","HUWE1","ICOS","IL11RA","INTU","IPO8","IQSEC2","IRF2BP2","IRX5","KCNAB2","KDM1A","KIDINS220","KMT2C","LIG4","LMX1B","LRP5","LRPPRC","LUZP1","MAF","MAN2B1","MBD5","MECP2","MED12","MED13L","MEGF8","MESD","MGAT2","MMP14","MMP2","MMP23B","MN1","MS4A1","MSX2","MTX2","NALCN","NANS","NBAS","NEK1","NFKB1","NFKB2","NGLY1","NIPBL","NOVA2","OTUD6B","PAICS","PCGF2","PCLO","PDE4D","PDPN","PEX1","PGAP2","PGAP3","PHF21A","PIGA","PIGL","PIGO","PIGT","PIGV","PIGW","PIGY","PNPLA6","POGZ","POLR1B","POLR1C","POLR1D","POLR2A","POLR3A","POR","PQBP1","PRDM16","PRKAR1A","PRKCD","PRKCZ","PRKD1","PRMT7","PTCH1","PTCH2","PTH1R","PTPN11","PTRH2","RAB18","RAB23","RAB3GAP1","RAB3GAP2","RAC3","RAD21","RAF1","RAI1","RALGAPA1","RBM8A","RECQL4","RERE","RFX7","RMRP","RNF216","RNU12","RUNX2","SATB1","SATB2","SETBP1","SETD5","SH3PXD2B","SKI","SLC12A6","SLC25A24","SMC1A","SMC3","SMG9","SMS","SNRPN","SP7","SPECC1L","SPEN","SPOP","SRD5A3","STAC3","STXBP1","SUFU","SYT1","TAF8","TAPT1","TBC1D20","TBC1D24","TBL1XR1","TBX2","TCF12","TCF20","TCOF1","TDP2","TECPR2","TET3","TGFB3","TMCO1","TNFRSF13B","TNFRSF13C","TNFSF12","TRAPPC9","TRIP12","TRPV6","TTC5","TTC8","TUBB","TWIST1","UBE3A","UBE3B","UBE4B","UNC80","UPF3B","USP7","USP9X","WAC","WASHC5","XRCC4","ZBTB20","ZC4H2","ZDHHC9","ZIC1","ZMYND11","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PROGRESSIVE_MICROCEPHALY":{"collection":"C5:HPO","systematicName":"M34628","pmid":"","exactSource":"HP:0000253","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000253","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROGRESSIVE_MICROCEPHALY","geneSymbols":["ACBD5","ACO2","AGTPBP1","ALG1","ALG12","ALG9","ARFGEF2","ASNS","ATP6V0A2","ATP6V1A","ATP6V1E1","BRAT1","CASK","CC2D1A","CCDC88A","CDC42","CDC45","CDKL5","CLP1","CNP","COG1","COG7","COG8","DIAPH1","DOLK","DPM2","EFTUD2","EMC1","ERCC6","ERCC8","EXOSC3","EXOSC8","EXOSC9","EXTL3","FAR1","FOXG1","GLYCTK","GOLGA2","GOT2","GRIA2","IQSEC2","LAMB2","LGI3","MDH1","MECP2","MFSD2A","MGAT2","MPC1","NAPB","NDUFS1","PAFAH1B1","PCDH12","PCLO","PLAA","PNKP","PNPO","POMK","PPT1","PTRH2","PUS3","PYCR2","QARS1","RARS2","RNASEH2A","RNASEH2C","RNF113A","SCN8A","SEPSECS","SLC1A4","SLC25A46","SLC2A1","SLC39A14","SMPD4","SNAP29","SPTAN1","STAMBP","TOE1","TRAPPC6B","TREX1","TSEN15","TSEN2","TSEN34","TSEN54","TUBGCP2","VARS1","VPS53","VRK1","WWOX","ZNHIT3","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_WIDE_ANTERIOR_FONTANEL":{"collection":"C5:HPO","systematicName":"M34629","pmid":"","exactSource":"HP:0000260","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000260","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WIDE_ANTERIOR_FONTANEL","geneSymbols":["ADAMTS2","ALG9","ANTXR1","ARX","ATP6V0A2","B3GLCT","CBFB","CCDC22","CDC45","CDH11","CHUK","COG4","COL11A1","COL11A2","COL1A1","COL1A2","COX5A","CREBBP","CRTAP","DCHS1","DDR2","DDX3X","DICER1","DLK1","DVL1","EBP","EFEMP2","EP300","ETFA","ETFB","ETFDH","FAT4","FBLN5","FGFR2","FGFR3","FLNA","GLI3","GLIS3","HRAS","IFT140","INTU","KIF7","KLF1","LIG4","LRP2","LTBP1","MASP1","MED12","MEG3","MID1","MPDU1","MTOR","NAA10","NDUFAF3","NEPRO","NSMCE3","NSUN2","P3H1","PCGF2","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PIEZO2","PIGQ","POR","PPP2R5D","RECQL4","RNU12","ROR2","RTL1","SEC23A","SETBP1","SH3PXD2B","SIX2","SKI","SLC25A24","SMG9","SOX9","TALDO1","TSHB","TWIST1","VPS35L","WNT5A","WT1","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_TURRICEPHALY":{"collection":"C5:HPO","systematicName":"M34630","pmid":"","exactSource":"HP:0000262","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000262","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TURRICEPHALY","geneSymbols":["ACP5","ALG14","AP1G1","ARVCF","COMT","CRTAP","ERF","FAM20C","FERMT1","FGFR1","FGFR2","FGFR3","FHL1","GJA5","GJA8","GP1BB","GPX4","HIRA","IL11RA","JMJD1C","KDM4B","MEGF8","MN1","MSX2","P4HB","PEX1","PEX5","POR","RAB23","RECQL4","RREB1","SEC24C","SEC24D","SKI","SLC12A6","SLC25A24","SOX6","SP7","SYT1","TBX1","TRIP11","TRPM3","TWIST1","UFD1","ZIC1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_OXYCEPHALY":{"collection":"C5:HPO","systematicName":"M34631","pmid":"","exactSource":"HP:0000263","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000263","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OXYCEPHALY","geneSymbols":["FGFR2","IL11RA","MEGF8","RAB23","RECQL4","SOX6","TWIST1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_MASTOID_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M34632","pmid":"","exactSource":"HP:0000264","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000264","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MASTOID_MORPHOLOGY","geneSymbols":["CDH11","CTSK","DLX3","MALT1","NBN","PAX1","RAG1","RAG2","SLC39A14","TPP2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MASTOIDITIS":{"collection":"C5:HPO","systematicName":"M34633","pmid":"","exactSource":"HP:0000265","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000265","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MASTOIDITIS","geneSymbols":["MALT1","NBN","PAX1","RAG1","RAG2","SLC39A14","TPP2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CRANIAL_ASYMMETRY":{"collection":"C5:HPO","systematicName":"M34634","pmid":"","exactSource":"HP:0000267","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000267","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CRANIAL_ASYMMETRY","geneSymbols":["AKT3","CPLX1","CTBP1","FGFRL1","HRAS","KRAS","LETM1","MAF","MTOR","NRAS","NSD2","PEX19","PIK3CA","POLR3A","PTCH1","RNF135"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DOLICHOCEPHALY":{"collection":"C5:HPO","systematicName":"M34635","pmid":"","exactSource":"HP:0000268","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000268","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DOLICHOCEPHALY","geneSymbols":["ADH5","AGO2","AKT1","ALG14","ALPL","ALX4","APC2","ARCN1","ARSB","ASH1L","ASXL3","ATP6V0A2","ATP6V1B2","ATRX","BGN","BICRA","BLM","BRAF","BRCA1","BRCA2","BRIP1","CCDC8","CDC42BPB","CEP57","CHRNG","CILK1","CITED2","CNOT3","CNTN1","CNTNAP1","COL25A1","COL5A1","CPLX1","CTBP1","CUL7","DIS3L2","DLX3","DMXL2","DPH1","DPH2","DYM","EBF3","ERCC4","ERF","ERGIC1","ERMARD","EXOC6B","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FBN1","FBN2","FGF9","FGFR2","FIG4","FKTN","FLT4","GATA4","GATA5","GATA6","GDF1","GJA5","GLI3","GNB2","H3-3B","HERC2","HGSNAT","HNRNPK","HSD17B4","IDS","IDUA","IFT122","IFT140","IFT43","IFT52","IFT81","IL11RA","IL6ST","INPPL1","INTS1","IPO8","ITCH","JAG1","KATNB1","KCNH1","KCNJ2","KCNJ5","KCNK9","KDM5B","KDM6B","KDR","KIF15","KMT2A","KMT2D","KMT2E","KPTN","KRAS","LETM1","LTBP4","MAD2L2","MADD","MAGEL2","MAN1B1","MGAT2","MKRN3","MN1","MSL3","MTM1","MVK","MYH3","NAA20","NDE1","NEDD4L","NELFA","NFIX","NKX2-5","NKX2-6","NOTCH2","NOTCH3","NPAP1","NPR2","NSD1","NSD2","OBSL1","OFD1","OGDHL","ORC4","PALB2","PCDHGC4","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PI4KA","PIGG","PPP2R5D","PREPL","PRIM1","PRPS1","PSMC1","PTEN","PTH1R","PWAR1","PWRN1","RAB39B","RAD51","RAD51C","RAF1","RELN","RFWD3","RFX7","RHOBTB2","RNU4ATAC","RPL10","RUSC2","RYR1","SCARF2","SCN4A","SCNM1","SCO2","SCYL2","SETD2","SHANK3","SKI","SLC35D1","SLC3A1","SLC6A9","SLX4","SMAD3","SNAP29","SNORD115-1","SNORD116-1","SOX6","SPTBN1","SUPT16H","TAB2","TBC1D7","TBX1","TFAP2A","TGFB2","TGFB3","THUMPD1","TMEM216","TMEM53","TRAIP","TRIM37","TRIP12","TWIST1","UBE2T","VAC14","VDR","WDR19","WDR35","XRCC2","YY1","ZFPM2","ZNF142"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PROMINENT_OCCIPUT":{"collection":"C5:HPO","systematicName":"M34636","pmid":"","exactSource":"HP:0000269","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000269","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROMINENT_OCCIPUT","geneSymbols":["ALX4","ATP6V1B2","ATP7A","CCDC22","CDK13","CDKN1C","CHUK","CNOT1","CNOT3","CTSK","DLL3","DPYSL5","ERF","FLNA","FLNB","GDF11","GJA5","GJA8","GLI3","HES7","HRAS","HYMAI","IFT122","IFT43","IFT52","IFT81","IGF2","ITCH","KAT6B","KATNB1","KCNQ1","KCNQ1OT1","KIF7","KRAS","LFNG","MED12","MESP2","MOGS","MYCN","NDE1","NFIX","NOTCH2","NRAS","PIGA","PIGN","PLAGL1","RELN","RIPPLY2","RNU4ATAC","SMG9","SOX6","TBC1D24","TBX6","TFAP2B","TOR1A","TWIST1","VPS35L","WASHC5","WDR19","WDR35"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DELAYED_CRANIAL_SUTURE_CLOSURE":{"collection":"C5:HPO","systematicName":"M34637","pmid":"","exactSource":"HP:0000270","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000270","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DELAYED_CRANIAL_SUTURE_CLOSURE","geneSymbols":["ACTB","ACTG1","ADAMTS2","ALDH18A1","ALG9","AMER1","ANKRD11","ANTXR1","ASPA","ATP6V0A2","ATP6V1A","ATP6V1E1","ATP7A","BANF1","BICRA","CASZ1","CHST14","COL1A1","CREBBP","CRTAP","CTSK","DDX6","DSE","DUOX2","DUOXA2","EFEMP2","ELN","EP300","FAM111A","FAM20C","FBLN5","FGFR2","FGFR3","FLNA","GABRD","GH1","GLI3","GRB10","H19","HDAC4","HESX1","HSD17B4","HSPG2","IGF2","IYD","KCNAB2","LHX3","LHX4","LIG4","LMNA","LTBP1","LUZP1","MAF","MED12","MMP2","MMP23B","MTX2","NAA10","NCAPG2","NLRP3","NSUN2","PDGFRB","PDPN","PEX14","PEX19","PEX2","POLR3A","POU1F1","PPP1R21","PRDM16","PRIM1","PRKCZ","PROP1","PTDSS1","RERE","RNF125","RNU12","ROR2","RPS19","RPS6KA3","RUNX2","SEC23A","SH3PXD2B","SKI","SLC5A5","SMC3","SPEN","TBCE","TG","TPO","TSHB","TWIST1","UBE4B","USP7","ZIC1","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MALAR_FLATTENING":{"collection":"C5:HPO","systematicName":"M46055","pmid":"","exactSource":"HP:0000272","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000272","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MALAR_FLATTENING","geneSymbols":["ACAN","ACSL4","ADAMTSL4","AGL","AIFM1","AMMECR1","APC","ARID1B","ARVCF","ASPH","ASXL3","ATP6V0A2","ATP6V1A","ATP6V1E1","ATRX","B3GALT6","BBS7","BCR","BGN","BLM","BMP2","BUB1B","CANT1","CCBE1","CDH11","CHD7","CNOT3","COG4","COL11A1","COL11A2","COL1A1","COL2A1","COL5A1","COL9A1","COL9A2","COL9A3","COMT","CRKL","CUL7","DCHS1","DDR2","DHODH","DLG3","DNMT3B","DVL1","EBP","EFTUD2","EHMT1","ELN","ERF","ESCO2","FAM20C","FAM50A","FAT4","FBN1","FGFR1","FGFR2","FGFR3","FLNA","FLNB","FOXC1","FOXP1","FZD2","GATA1","GJA5","GJA8","GLI2","GORAB","GP1BB","GPC6","GRIA3","GSC","HBA1","HBA2","HDAC4","HERC1","HIRA","HNRNPH1","HS6ST2","HSPG2","INPPL1","IPO8","JMJD1C","KCNE5","KCNH1","KCNJ2","KIF1A","KIF22","KIF7","LARP7","LIFR","LMNA","LRP2","LRP4","LRPPRC","LTBP4","MAF","MAN1B1","MAN2B1","MAPK1","MBD5","MECP2","MED12","MGP","MLXIPL","MYH3","NDP","NECTIN1","NF1","NGF","NONO","NOTCH2","NOTCH3","NPR3","NSDHL","NTRK1","OBSL1","PAX3","PCGF2","PDE4D","PDZD8","PEX1","PEX12","PEX7","PIGA","PIGT","PIGU","PIGV","PIK3R1","PLOD3","POGZ","POLE","POLR1B","POLR1C","POLR1D","POLR3A","POMGNT1","POR","POU1F1","PQBP1","PRMT7","PSMC3","PTH1R","PYCR1","PYCR2","RAB23","RAB3GAP1","RAB3GAP2","RAI1","RBM8A","RDH11","RFX7","RHOA","RLIM","RNU12","RNU4ATAC","ROR2","RPS26","RREB1","RSPRY1","RUNX2","SATB2","SCARF2","SEC23A","SEC24C","SERPINH1","SETBP1","SETD2","SF3B2","SF3B4","SHANK3","SHH","SIX3","SLC26A2","SLC2A10","SLC35D1","SLC6A8","SMAD3","SMAD4","SNRPB","SOST","SP7","STAG2","TAT","TBL1XR1","TBX1","TBX22","TBX4","TCOF1","TFAP2A","TFAP2B","TFE3","TGDS","TGFBR1","TGFBR2","TMEM165","TMEM237","TONSL","TP63","TWIST1","UBE2A","UFD1","WNT5A","YY1","ZBTB20","ZNHIT3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FACIAL_GRIMACING":{"collection":"C5:HPO","systematicName":"M34638","pmid":"","exactSource":"HP:0000273","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000273","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FACIAL_GRIMACING","geneSymbols":["ALDH7A1","ATXN8OS","CP","CREBBP","EP300","GATAD2B","GLI3","LRIG2","PANK2","PDE2A","PLPBP","PNKD"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SMALL_FACE":{"collection":"C5:HPO","systematicName":"M34639","pmid":"","exactSource":"HP:0000274","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000274","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SMALL_FACE","geneSymbols":["ACTA1","ANTXR2","AP4E1","APC2","ATP7A","ATR","ATRIP","AXIN2","B3GAT3","B4GALT7","BAZ1B","BCL7B","BCOR","BLM","BUD23","CENPE","CENPJ","CENPT","CEP152","CFL2","CHD7","CHRNB1","CHST3","CLIP2","COG1","COL18A1","DDX11","DHX30","DNA2","DNAJC30","DSTYK","EDA","EDARADD","EIF4H","ELN","ERCC4","EYA1","FBN1","FBXL4","FGFR1","FGFR3","FKBP6","FLNA","FMR1","GHR","GRHL3","GTF2I","GTF2IRD1","GTF2IRD2","HECTD4","HYOU1","INSR","IRF6","KBTBD13","KLHL41","KMT2D","LIG4","LIMK1","LMNA","LMOD3","LRP6","MAP2K2","MED12","METTL27","MICU1","MLXIPL","MSX1","MTM1","MYH3","MYPN","NALCN","NCF1","NEB","NFIX","NGLY1","NHS","NOG","NOTCH3","NSD1","NSDHL","NSUN2","NUP85","PAX3","PAX9","PBX1","PCNT","PLK4","POLR1B","POLR1C","POLR1D","PPP1R15B","PQBP1","RBBP8","RECQL4","RFC2","RFX7","RLIM","RUNX2","RYR1","RYR3","SATB2","SCN3A","SEMA3E","SETD2","SIN3A","SIX1","SLC16A2","SLC37A4","SLC6A8","SLC9A6","SMS","SOX9","STEEP1","STRADA","STX1A","SUMO1","TBL2","TBR1","TBX1","TCOF1","TGFA","TMEM270","TNNI2","TNNT3","TPM2","TPM3","TRAIP","TRIP11","TRMT10A","TSPAN7","TUBB4A","UBB","UBE3B","UPF3B","VPS37D","WNT10A","WNT10B","WRN","ZDHHC9"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NARROW_FACE":{"collection":"C5:HPO","systematicName":"M43253","pmid":"","exactSource":"HP:0000275","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000275","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NARROW_FACE","geneSymbols":["ACTA1","ANTXR2","AP4E1","APC2","ATP7A","ATR","ATRIP","BAZ1B","BCL7B","BCOR","BLM","BUD23","CENPE","CENPJ","CENPT","CEP152","CFL2","CHD7","CHRNB1","CLIP2","COL18A1","DNA2","DNAJC30","DSTYK","EIF4H","ELN","ERCC4","EYA1","FBN1","FBXL4","FKBP6","FMR1","GTF2I","GTF2IRD1","GTF2IRD2","HECTD4","HYOU1","KBTBD13","KLHL41","KMT2D","LIG4","LIMK1","LMNA","LMOD3","MAP2K2","MED12","METTL27","MICU1","MLXIPL","MTM1","MYH3","MYPN","NALCN","NCF1","NEB","NFIX","NGLY1","NHS","NOG","NOTCH3","NSD1","NSDHL","NSUN2","NUP85","PAX3","PBX1","PCNT","PLK4","PPP1R15B","PQBP1","RBBP8","RECQL4","RFC2","RFX7","RLIM","RYR1","RYR3","SATB2","SEMA3E","SETD2","SIN3A","SIX1","SLC16A2","SLC37A4","SLC6A8","SLC9A6","SMS","STEEP1","STRADA","STX1A","TBL2","TBX1","TMEM270","TNNI2","TNNT3","TPM2","TPM3","TRAIP","TRIP11","TRMT10A","TSPAN7","TUBB4A","UBE3B","UPF3B","VPS37D","WRN","ZDHHC9"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RETROGNATHIA":{"collection":"C5:HPO","systematicName":"M34641","pmid":"","exactSource":"HP:0000278","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000278","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETROGNATHIA","geneSymbols":["AARS1","ABAT","ACTA1","ACTA2","ACTB","ACTG1","ADAMTS2","ADAMTS3","ADAMTSL2","AGRN","ALG11","ALG13","ALG9","AMER1","AP3D1","ARCN1","ARID1B","ARID2","ARNT2","ASPH","ASXL1","ASXL2","ASXL3","ATG7","ATP6V0A2","ATP6V1A","ATPAF2","AUTS2","B3GAT3","BANF1","BCL11A","BIN1","BLM","BMP4","BNC2","BRCC3","C2CD3","CA2","CANT1","CARS1","CBL","CCBE1","CCDC88A","CDC45","CDC6","CDT1","CENPJ","CEP120","CEP135","CEP152","CEP55","CHAT","CHST14","CHST3","CNTNAP1","COG5","COG6","COG7","COL13A1","COL1A1","COL1A2","COL2A1","COL3A1","COX7B","CREB3L1","CREBBP","CRIPT","CRLF1","CRPPA","CSGALNACT1","CTBP1","CTNND2","CTU2","DDB1","DGCR2","DGCR6","DGCR8","DHCR24","DHCR7","DIS3L2","DLK1","DPYD","DSE","DSTYK","DVL1","DVL3","DYRK1A","EBP","EDEM3","EDN1","EED","EIF4A3","ELN","EMC1","EP300","ERCC2","ERCC3","ERF","ESS2","EXOC7","EXOSC1","EXOSC5","EYA1","EZH2","FAM20C","FANCB","FARS2","FAT4","FBN1","FBXL3","FBXO31","FBXW11","FDFT1","FHL1","FOXE1","FOXE3","FOXF1","FOXP1","FRA10AC1","FRMPD4","FTO","FUT8","FZD2","GABRA3","GAD1","GBA1","GLDN","GLE1","GLI3","GMNN","GTF2E2","GTF2H5","H4C3","H4C5","HBA1","HBA2","HCCS","HDAC8","HECTD4","HEY2","HNRNPH1","HNRNPK","HPDL","HS2ST1","HSD17B4","HYLS1","HYMAI","IBA57","IDH1","IGBP1","IGF1R","IGF2","INTS1","INTU","IPO8","ITGA8","JARID2","KAT6A","KAT6B","KATNB1","KCNK9","KIF15","KIF26A","KIF7","KMT2B","KPTN","LBR","LGI4","LMNA","LOX","LTBP4","MADD","MAGEL2","MAMLD1","MAPKAPK5","MAT2A","MBD5","MED25","MEG3","MEGF8","MESD","MFAP5","MGAT2","MIA3","MOGS","MPLKIP","MRPS22","MSL3","MTM1","MYH11","MYH7","MYL11","MYLK","MYMK","MYO9A","NAA10","NARS1","NBN","NDE1","NDUFB11","NEDD4L","NEPRO","NFIX","NR2F1","NSD1","NSDHL","NSMCE2","NUDT2","NUP188","NUP88","OCLN","ODC1","OFD1","ORC1","ORC4","ORC6","OTUD5","OTUD6B","PAX1","PCNT","PDGFRB","PIEZO2","PIGN","PIK3C2A","PLAGL1","PMM2","POLA1","POLR1A","POLR1B","POLR1C","POLR1D","POLR3A","PPP3CA","PRDM13","PREPL","PRKG1","PRMT7","PRORP","PRR12","PSMD12","PUF60","PUS7","RARB","RBBP8","RELN","RNF113A","RNU4ATAC","ROR2","RPL10","RPL5","RPS19","RSPO2","RSRC1","RTL1","RTTN","RYR1","SCN4A","SCNM1","SEC24D","SELENON","SEMA5A","SETBP1","SETD2","SF3B4","SIM1","SIN3A","SIX1","SIX5","SKI","SLC10A7","SLC18A3","SLC25A1","SLC25A24","SLC29A3","SLC35A3","SLC35B2","SLC3A1","SLC5A7","SLC6A9","SMAD2","SMAD3","SMAD4","SMC1A","SMOC1","SNAP25","SNRPN","SPATA5","SPEG","SPEN","SRCAP","SUZ12","SYT2","TAF1","TARS1","TASP1","TBX1","TCOF1","TCTN3","TELO2","TGFB2","TGFB3","TGFBR1","TGFBR2","THOC6","THSD4","TMEM107","TMEM70","TNPO2","TPM2","TRIO","TRIP11","TRIP4","TTN","TUBA1A","TXNDC15","UBA2","UBE3B","USB1","VAMP1","WBP11","WDR11","WDR35","WNT5A","YARS1","ZBTB24","ZC4H2","ZMPSTE24","ZNF699","ZNHIT3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_COARSE_FACIAL_FEATURES":{"collection":"C5:HPO","systematicName":"M34642","pmid":"","exactSource":"HP:0000280","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000280","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_COARSE_FACIAL_FEATURES","geneSymbols":["AARS1","ABCA5","ABCC9","ACER3","ACTB","ACTG1","ADNP","AFF4","AGA","AIFM1","AIMP1","AIP","ALG13","ALG14","ANTXR2","AP1S2","AP3B1","AP4B1","AP4E1","AP4M1","AP4S1","APC2","ARID1A","ARID1B","ARID2","ARSB","ARSK","ARX","ATP6V1B2","ATRX","BAP1","BAZ1B","BCL7B","BCORL1","BRAF","BRCA1","BSCL2","BUD23","CARS1","CCDC47","CDKN1C","CEP120","CHD4","CLCN4","CLIC2","CLIP2","CNP","CNTNAP2","COL2A1","COQ4","CTSA","CUL4B","DENND5A","DNAJC30","DNMT3A","DPF2","DYM","EHMT1","EIF4H","ELN","ERCC2","ERCC3","EXT2","EXTL3","FAR1","FBXO31","FHL1","FKBP6","FLNA","FMR1","FOXE1","FTO","FUCA1","GALNS","GJA1","GLA","GLB1","GNE","GNPTAB","GNPTG","GNS","GPC3","GPC4","GPR101","GTF2E2","GTF2H5","GTF2I","GTF2IRD1","GTF2IRD2","GUSB","H4C5","HDAC4","HEXB","HGSNAT","HNRNPK","HPGD","HRAS","HS2ST1","IDS","IDUA","IGF2","INSR","KAT6B","KCNH1","KCNJ8","KCNN3","KCNQ1","KCNQ1OT1","KDM6B","KIF15","KLHL15","KRAS","L1CAM","LAMTOR2","LIMK1","LTBP1","LYSET","MAGEL2","MAN2B1","MAP2K1","MAP2K2","MAP3K7","MAPK1","MBD5","MCOLN1","MCTP2","MED12","MEN1","METTL27","MLXIPL","MMP14","MMP2","MPL","MPLKIP","MRPS34","MYSM1","NAA10","NAGA","NAGLU","NANS","NCF1","NEU1","NF1","NKX2-1","NKX2-5","NMNAT1","NOTCH2","NRCAM","NSD1","OTUD5","P4HTM","PACS2","PAX8","PDE4D","PGAP2","PGAP3","PHF6","PIGA","PIGB","PIGF","PIGL","PIGN","PIGO","PIGQ","PIGS","PIGV","PIGW","PIGY","PIK3C2A","PLAA","PPP1R21","PPP3CA","PTCH1","PUS3","RAB33B","RBMX","RFC2","RIN2","RNF113A","RPS6KA3","SETBP1","SETD2","SGSH","SH3PXD2B","SLC17A5","SLC26A4","SLC35A2","SLC35C1","SLCO2A1","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SNX14","SOST","SOX11","SOX4","SP7","SPEN","SPRED2","SPTBN1","STAT3","STX1A","SUMF1","SVBP","TARS1","TBC1D24","TBC1D2B","TBC1D7","TBCK","TBL2","TCF4","TFE3","THPO","THSD1","TMEM147","TMEM270","TMEM53","TNPO2","TSHR","VPS11","VPS33A","VPS37D","WAC","WDR26","WDR81","XYLT1","ZNF148","ZNF699","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FACIAL_EDEMA":{"collection":"C5:HPO","systematicName":"M34643","pmid":"","exactSource":"HP:0000282","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000282","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FACIAL_EDEMA","geneSymbols":["ACTB","ACTG1","ACTN4","ADAMTS2","AIP","ALB","ANAPC1","ANGPT1","ANKFY1","ANLN","ANTXR1","APOL1","ARHGAP24","ARHGDIA","BAZ1B","BCL7B","BUD23","CAMTA1","CCBE1","CD2AP","CDH11","CLIP2","COL1A1","COL4A3","COL5A1","COL5A2","COQ8B","CRB2","CTLA4","DAAM2","DHX30","DNAJC30","DNMT3B","DUOX2","DUOXA2","DUX4","DUX4L1","EIF4H","ELN","EMP2","EPHB4","F12","FKBP6","FOXG1","FRG1","FRMD4A","GAPVD1","GNPTAB","GPR101","GSN","GTF2I","GTF2IRD1","GTF2IRD2","HAVCR2","HESX1","HLA-DPA1","HLA-DPB1","HS3ST6","IGSF3","INF2","IYD","KAT6A","KCTD1","KIF1A","KNG1","KNSTRN","KPTN","LHX3","LHX4","LIMK1","LTBP4","MAGI2","MED12L","METTL27","MLXIPL","MYD88","MYO1E","MYOF","NCF1","NEU1","NPHS1","NPHS2","NUP107","NUP133","NUP160","NUP205","NUP37","NUP85","NUP93","PAX2","PEX2","PEX5","PIEZO1","PIK3CD","PLCE1","PLG","POMP","POU1F1","POU4F1","PROP1","PRTN3","PSMB4","PSMB9","PSPH","PTPN22","PTPRO","RECQL4","RFC2","RIN2","SERPING1","SHANK3","SLC29A3","SLC35C1","SLC5A5","SMCHD1","SNX14","SOX18","SPTBN1","STX1A","SUMF1","TBC1D8B","TBL2","TG","TGFBI","TMEM270","TNFRSF1A","TPO","TRPC6","TSHB","VPS37D","WT1","XPNPEP2","ZNHIT3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BROAD_FACE":{"collection":"C5:HPO","systematicName":"M34644","pmid":"","exactSource":"HP:0000283","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000283","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BROAD_FACE","geneSymbols":["ADNP","AGA","BRAT1","DDR2","DNM1","FLNA","FLNB","HDAC4","IDUA","NFIA","PDE4D","PTCH1","RAI1","SNX14","TBL1XR1","TGFB3","UBE2A","ZNF711"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_EPICANTHUS":{"collection":"C5:HPO","systematicName":"M34645","pmid":"","exactSource":"HP:0000286","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000286","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EPICANTHUS","geneSymbols":["AARS1","ABCA5","ABCC9","ACOX1","ACTB","ACTG1","ADA2","ADAMTS2","ADAMTS3","ADAMTSL2","ADAT3","ADNP","AFF2","AGO1","AGO2","AHI1","ALDH6A1","ALDOA","ALG12","ALG2","ALG3","ALG9","ALX1","ALX3","ALX4","AMER1","ANGPT2","ANK1","ANTXR1","AP1G1","AP3B1","ARID1B","ARID2","ARVCF","ASXL1","ASXL2","ASXL3","ATN1","ATP6V0A2","ATP6V1B2","ATP9A","ATRX","AUTS2","B4GALT7","B9D2","BAZ1B","BCAS3","BCL11A","BCL11B","BCL7B","BICRA","BLNK","BMP2","BMPER","BPTF","BRAF","BRAT1","BRCA1","BRCA2","BRIP1","BUB1","BUB1B","BUB3","BUD23","C12orf4","CAMK2A","CARS1","CASK","CASZ1","CBL","CCBE1","CCDC47","CCDC88A","CD79A","CD79B","CD96","CDC42BPB","CDCA7","CDK10","CDK13","CEP57","CERT1","CHAMP1","CHD3","CHD4","CHD5","CHD7","CHD8","CHRNA1","CHRNA7","CHRND","CHRNG","CLCN3","CLCN7","CLIP2","CNOT1","CNTNAP1","COA3","COG6","COG8","COL11A1","COL18A1","COL1A1","COL1A2","COL25A1","COL3A1","COL5A1","COL5A2","COLEC10","COLEC11","COMT","COQ4","CPLANE1","CPLX1","CREBBP","CSF1R","CSNK2A1","CSPP1","CTBP1","CTCF","CTNND2","CUL4B","DCHS1","DDB1","DDR2","DDX11","DDX6","DEAF1","DHCR24","DHCR7","DHX16","DHX30","DIS3L2","DLK1","DLX4","DMXL2","DNAJC21","DNAJC30","DNMT3A","DNMT3B","DOCK3","DPF2","DPH1","DPH2","DPH5","DVL1","DVL3","DYNC2H1","DYNC2I1","DYNC2I2","DYNC2LI1","EBF3","EDEM3","EED","EEF1A2","EFTUD2","EIF4H","EIF5A","ELN","EP300","EPG5","ERCC2","ERCC3","ERCC4","EXOSC9","EXT2","EZH2","FAM149B1","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FAT4","FBXL4","FDFT1","FGD1","FGF10","FGF20","FGFR1","FGFR2","FGFR3","FGFRL1","FIBP","FIG4","FKBP14","FKBP6","FLI1","FLNA","FLT4","FOCAD","FOXG1","FOXL2","FOXP2","FZD2","GABRD","GATA1","GATA2","GATA4","GATAD2B","GDF11","GFRA1","GJA1","GJA5","GJA8","GJC2","GLIS3","GNE","GNPTAB","GP1BB","GPC3","GPC4","GPC6","GPT2","GREB1L","GTF2E2","GTF2H5","GTF2I","GTF2IRD1","GTF2IRD2","GUSB","H3-3A","H4C5","HBA1","HBA2","HEATR3","HECW2","HELLS","HIBCH","HIC1","HIRA","HK1","HNRNPH2","HNRNPU","HOXB1","HRAS","HS2ST1","HSD17B4","HSPG2","HUWE1","IFT122","IFT140","IFT43","IFT52","IFT80","IGHM","IGLL1","INPP5E","INTS1","ITGA8","JARID2","JMJD1C","KANSL1","KAT6A","KAT6B","KAT8","KCNAB2","KCNH1","KCNJ8","KCTD1","KDM6A","KDM6B","KIAA0586","KIAA0753","KIF11","KIF1A","KIF7","KMT2A","KMT2B","KMT2D","KMT5B","KRAS","LETM1","LIG4","LIMK1","LMBRD1","LONP1","LRRC8A","LUZP1","LZTR1","MAB21L2","MACF1","MAD2L2","MADD","MAN1B1","MAN2B1","MAP1B","MAP2K1","MAP2K2","MAP3K7","MAPK1","MAPRE2","MARS1","MASP1","MECP2","MED12","MED13L","MED25","MEG3","MEGF8","METTL27","MICU1","MINPP1","MKS1","MLXIPL","MMP23B","MPC1","MPLKIP","MRPL12","MSL3","MTSS2","MYCN","MYH3","MYMK","MYMX","NAA10","NAA20","NALCN","NANS","NBAS","NBN","NCDN","NCF1","NDST1","NELFA","NF1","NFIX","NONO","NOTCH2","NOTCH3","NR2F1","NRAS","NSD2","NSDHL","NSUN2","NUP188","NXN","OFD1","OSGEP","PAFAH1B1","PAH","PAK2","PALB2","PBX1","PCDHGC4","PDE4D","PDE6D","PDHX","PDPN","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PGAP2","PGAP3","PGM2L1","PHF21A","PHIP","PIEZO1","PIEZO2","PIGG","PIGL","PIGN","PIGO","PIGU","PIGV","PIGW","PIGY","PIK3C2A","PIK3CA","PIK3R1","PLOD1","PLXND1","PMM2","PNPLA6","POLRMT","POU3F3","PPP1CB","PPP1R12A","PPP1R15B","PPP1R21","PPP2CA","PPP2R3C","PQBP1","PRDM13","PRDM16","PREPL","PRKAR1A","PRKAR1B","PRKCZ","PRMT7","PRORP","PRPS1","PTCH1","PTCH2","PTEN","PTPN11","PUF60","PURA","PUS7","QARS1","RAB23","RAB3GAP2","RAD51","RAD51C","RAF1","RALA","RB1","RECQL4","RERE","RET","REV3L","RFC2","RFWD3","RFX7","RHOBTB2","RIC1","RIN2","RIT1","RMRP","RNF113A","ROR2","RPL10","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS23","RPS24","RPS26","RPS27","RPS28","RPS29","RPS6KA3","RPS7","RREB1","RSPRY1","RTL1","RYR1","RYR3","SALL4","SC5D","SCN4A","SCNM1","SEC24C","SEMA3E","SEMA5A","SEPTIN9","SETD1A","SHANK3","SHOC2","SHROOM4","SIAH1","SIN3A","SIX2","SKI","SLC17A5","SLC25A24","SLC26A2","SLC35A2","SLC39A7","SLC3A1","SLX4","SMARCA2","SMC5","SMPD4","SNRPB","SNX14","SON","SOS1","SOX18","SOX4","SOX5","SOX9","SPART","SPEN","SPI1","SPOP","SPRED1","SPRED2","SRCAP","SRY","STAG2","STX1A","SUFU","SUPT16H","SVBP","SYT1","TAF1","TARS1","TASP1","TBC1D24","TBCK","TBL2","TBX1","TBX2","TBX22","TBX4","TCF20","TCF3","TCTN3","TFE3","THOC6","THUMPD1","TLK2","TMCO1","TMEM147","TMEM216","TMEM237","TMEM270","TMEM53","TOE1","TONSL","TOPORS","TPRKB","TRAF7","TRAPPC9","TRIO","TRIP12","TRIP13","TRMT10A","TRRAP","TSR2","TUBB","TUBB3","TWIST1","TWIST2","UBE2T","UBE3A","UBE3B","UBE4B","UFC1","UFD1","UGDH","UGP2","UNC80","UQCC2","VDR","VPS33A","VPS37D","VPS51","VPS53","WAC","WDR19","WDR35","WDR37","WDR4","WDR73","WNT5A","WNT7A","WNT9B","WT1","WWOX","XRCC2","XRCC4","XYLT1","YARS1","YWHAE","ZBTB18","ZBTB20","ZBTB24","ZEB2","ZFHX4","ZMIZ1","ZMYM2","ZNF148","ZNF292","ZNF407","ZNF462","ZNF469","ZNHIT3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_PHILTRUM":{"collection":"C5:HPO","systematicName":"M34646","pmid":"","exactSource":"HP:0000288","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000288","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_PHILTRUM","geneSymbols":["AARS1","AASS","ABCC8","ABCC9","ABL1","ACER3","ACTA1","ACTB","ACTG1","ADAMTS3","ADAMTSL1","ADAMTSL2","ADNP","ADSL","AFF3","AFF4","ALDH6A1","ALG11","ALG12","ALG13","ALG8","ALG9","ALX4","ANKRD11","ANKRD17","ANO1","ANTXR1","AP1G1","AP1S2","AP2M1","AP3B1","AP3D1","AP4B1","AP4E1","AP4M1","AP4S1","APC","ARHGEF2","ARID1A","ARID1B","ARID2","ARNT2","ARSK","ARVCF","ARX","ASH1L","ATG7","ATN1","ATP6V0A2","ATP6V1A","ATP6V1B2","ATP6V1E1","ATP7A","ATP9A","ATRX","AUTS2","AVP","B3GALT6","B3GAT3","B3GLCT","B4GALT1","BAP1","BAZ1B","BCAS3","BCL11B","BCL7B","BCOR","BCR","BMP1","BMP2","BPTF","BRAF","BRAT1","BRCC3","BRD4","BRF1","BRPF1","BUB1B","BUD23","C12orf57","CAMK2G","CAMTA1","CANT1","CASK","CASZ1","CBL","CCBE1","CCDC22","CCDC8","CCNK","CD96","CDC42","CDC42BPB","CDC6","CDH11","CDH2","CDK10","CDK13","CDKL5","CDON","CERT1","CHAMP1","CHD2","CHD5","CHD8","CHRNG","CHST14","CHST3","CHSY1","CKAP2L","CLCF1","CLCN3","CLCN6","CLIC2","CLIP2","CLTC","CNOT1","CNOT3","COG1","COG7","COL11A1","COL11A2","COL2A1","COL3A1","COLEC11","COMT","COX7B","CPLX1","CREBBP","CRKL","CRLF1","CRTAP","CSGALNACT1","CSNK2B","CTBP1","CTCF","CTNNB1","CUL4B","CUL7","DDR2","DDX59","DDX6","DEAF1","DENND5A","DHCR7","DHPS","DHX30","DHX37","DIS3L2","DISP1","DLK1","DLL1","DLL3","DNAJC30","DNMT3A","DOCK7","DPF2","DPM1","DPM2","DPYD","DPYSL5","DSE","DVL1","DVL3","DYNC2H1","DYNC2I1","DYNC2I2","DYRK1A","EBF3","EBP","EDEM3","EED","EFTUD2","EIF2S3","EIF4H","ELN","EMC1","EP300","EPB41L1","EPG5","ERCC1","ERCC6","ERLIN2","ERMARD","EXOC2","EXOC7","EXOSC1","EXOSC2","EXT1","EXT2","EXTL3","EZH2","FAR1","FAT4","FBN1","FBXO11","FGD1","FGF3","FGF8","FGFR1","FGFR2","FGFRL1","FIG4","FKBP6","FLCN","FLI1","FLII","FLNA","FOXG1","FOXH1","FOXL2","FOXP2","FRA10AC1","FREM1","FZD2","GABRD","GAD1","GALNT2","GAS1","GATAD2B","GJA1","GJA5","GJA8","GLB1","GLI2","GLIS3","GMPPA","GNB1","GNB2","GNE","GNPTAB","GOLGA2","GP1BB","GPC6","GRIA3","GRIA4","GTF2I","GTF2IRD1","GTF2IRD2","H3-3A","H3-3B","H4C11","H4C5","H4C9","HDAC6","HDAC8","HECTD4","HES7","HIRA","HIVEP2","HNRNPH2","HNRNPU","HOXB1","HPDL","HRAS","HS2ST1","HSD17B4","HSPG2","HUWE1","IARS2","IDH1","IFIH1","IFT140","IFT57","IFT80","IFT81","IGF1R","IL6ST","INPPL1","INTS1","IQSEC2","IREB2","IRX5","ITCH","JARID2","JMJD1C","KARS1","KAT6A","KAT6B","KCNAB2","KCNH1","KCNJ11","KCNJ6","KCNJ8","KCNK4","KCNK9","KDF1","KDM4B","KDM5B","KDM5C","KIAA0753","KIDINS220","KIF11","KIF15","KIF26A","KIF7","KIFBP","KIT","KLHL41","KMT2A","KMT2D","KRAS","LARP7","LEMD2","LETM1","LFNG","LIMK1","LMNB1","LMX1B","LRP4","LRRC32","LTBP1","LTBP3","LTBP4","LUZP1","MAB21L1","MAB21L2","MADD","MAF","MAGEL2","MAN1B1","MAP1B","MAP2K1","MAP2K2","MAP3K7","MAPK1","MAPK8IP3","MAPRE2","MARS2","MCTP2","MED12","MED12L","MED13","MED25","MEF2C","MEG3","MEGF8","MEIS2","MESP2","METTL23","METTL27","METTL5","MGAT2","MGP","MID1","MID2","MKS1","MLXIPL","MMACHC","MMP23B","MOCS1","MOCS2","MPC1","MRPS28","MSL3","MTOR","MTX2","MUSK","MYH3","MYH8","MYMK","MYMX","MYO18B","MYOD1","NAA10","NAA20","NALCN","NARS2","NBAS","NBN","NCF1","NEB","NECTIN1","NEK9","NELFA","NEXMIF","NF1","NFIB","NFIX","NIPBL","NKAP","NLRP1","NODAL","NOG","NONO","NOTCH2","NOTCH3","NOVA2","NRAS","NRCAM","NSD1","NSD2","NSRP1","NSUN2","NUP107","NXN","OBSL1","OCLN","OCRL","OFD1","OPHN1","ORC4","OSTM1","OTUD6B","PACS1","PAH","PAM16","PARS2","PAX3","PBX1","PCDHGC4","PCLO","PDCD6IP","PDE4D","PDGFRB","PDHA1","PDPN","PEX26","PGAP2","PGAP3","PGM2L1","PHF21A","PHIP","PIEZO2","PIGB","PIGG","PIGL","PIGN","PIGO","PIGQ","PIGS","PIGT","PIGU","PIGV","PIGW","PIGY","PIK3CA","PITX2","PKDCC","PLAA","PLPBP","PMM2","POC1A","POGZ","POLR3A","POLR3GL","POR","POU4F1","PPP1CB","PPP1R12A","PPP1R15B","PPP1R21","PPP2CA","PPP2R3C","PPP2R5D","PPP3CA","PQBP1","PRDM16","PRDX1","PRIM1","PRKACA","PRKACB","PRKCZ","PRKDC","PRMT7","PSMC3","PSMD12","PTCH1","PTEN","PTH1R","PTPRF","PUF60","PURA","PUS1","PUS7","PYCR1","PYCR2","QRICH1","RAB18","RAB3GAP1","RAB3GAP2","RAC3","RAD21","RAI1","RALA","RECQL","RERE","RFC2","RFX7","RHOBTB2","RIC1","RIN2","RIPPLY2","RNF135","RNF2","RNU4ATAC","ROBO1","ROR2","RPL10","RREB1","RTL1","RTTN","RUNX2","RYR1","SATB1","SATB2","SC5D","SCN1A","SCN4A","SEC23A","SEC24C","SETBP1","SETD5","SH3PXD2B","SHANK3","SHH","SHMT2","SHOC2","SIN3A","SIX3","SKI","SKIC3","SLC25A24","SLC26A2","SLC2A1","SLC2A10","SLC35A1","SLC35A2","SLC35C1","SLC45A1","SLC6A1","SLC6A17","SLC9A7","SLF2","SMAD4","SMARCA2","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SMC1A","SMC3","SMG8","SMOC1","SMPD4","SMS","SNAI2","SNRPB","SNX14","SON","SOX11","SOX4","SOX9","SPECC1L","SPEN","SPOP","SPRED2","SPTBN1","SRCAP","STAG2","STEEP1","STIM1","STX1A","STXBP1","SUFU","SUMF1","SUZ12","SYNE1","SYNGAP1","SYT1","TAB2","TAF1","TAF6","TAF8","TALDO1","TAOK1","TASP1","TBC1D20","TBC1D24","TBCE","TBCK","TBL1XR1","TBL2","TBR1","TBX1","TCF3","TCF4","TCTN3","TDGF1","TENM3","TET3","TFAP2A","TFAP2B","TGFB3","TGIF1","THOC6","THSD1","THUMPD1","TMCO1","TMEM147","TMEM237","TMEM270","TMEM53","TMEM70","TMEM94","TMLHE","TNNI2","TNPO2","TOE1","TOR1A","TPM3","TPR","TRAPPC4","TRAPPC9","TRIM8","TRIO","TRIP11","TRIP12","TRMT10A","TRPM3","TRPS1","TRRAP","TSPAN7","TTC5","TUBB","TUBGCP2","TWIST1","TWIST2","TXNL4A","UBE2A","UBE3B","UBE4B","UBR1","UBR7","UFD1","UGDH","UGP2","UNC80","UPF3B","USB1","USP9X","VAC14","VPS13B","VPS37D","VPS51","WARS2","WDR19","WDR35","WDR37","WDR4","WLS","WNT4","WNT5A","WWOX","XYLT1","XYLT2","YARS2","ZBTB18","ZC4H2","ZDHHC9","ZEB2","ZIC2","ZMIZ1","ZNF148","ZNF292","ZNF462","ZNF699","ZPR1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BROAD_PHILTRUM":{"collection":"C5:HPO","systematicName":"M34647","pmid":"","exactSource":"HP:0000289","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000289","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BROAD_PHILTRUM","geneSymbols":["ALX4","ANO1","AP2M1","ARID1A","ARID1B","ARID2","CDH11","CHD2","COLEC11","DPF2","ERMARD","FGD1","H3-3A","KCNK9","KMT2D","MAF","NEXMIF","PGAP2","PGAP3","PIGL","PIGO","PIGV","PIGW","PIGY","RAC3","ROBO1","SCN1A","SLC2A1","SLC6A1","SMARCA2","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SNX14","SOX11","SOX4","SPTBN1","SYNGAP1","TBL1XR1","TMCO1","WDR35","ZNF462"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_FOREHEAD":{"collection":"C5:HPO","systematicName":"M34648","pmid":"","exactSource":"HP:0000290","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000290","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_FOREHEAD","geneSymbols":["AARS1","ABCC8","ABCC9","ABL1","ACAN","ACER3","ACOX1","ACP5","ACTB","ACTG1","ACTG2","ACTL6B","ADA2","ADAM22","ADAMTS3","ADAMTSL1","ADARB1","ADAT3","ADK","ADNP","ADSL","AFF4","AGO1","AGO2","AGPAT2","AGR2","AGRN","AIFM1","AIP","AKT3","ALDH18A1","ALDH6A1","ALG11","ALG9","ALPL","ALX1","ALX3","ALX4","AMER1","AMMECR1","AMPD2","ANKLE2","ANKRD11","ANKRD17","ANTXR1","AP1G1","AP1S1","AP1S2","AP2M1","AP3B2","AP4B1","AP4E1","AP4M1","AP4S1","APC","APC2","ARCN1","ARID1A","ARID1B","ARID2","ARNT2","ARV1","ARX","ASH1L","ASNS","ASPM","ASXL1","ASXL2","ASXL3","ATAD3A","ATIC","ATN1","ATP1A2","ATP1A3","ATP6AP1","ATP6AP2","ATP6V0A2","ATP6V1A","ATP6V1B2","ATP7A","ATR","ATRX","B3GALT6","B3GAT3","B3GLCT","B4GALT7","B9D1","B9D2","BAP1","BAZ1B","BCL7B","BCORL1","BGN","BICRA","BMP1","BMP2","BMP4","BMPR1A","BPNT2","BRAF","BRCA1","BRCA2","BRD4","BRIP1","BRPF1","BRWD3","BSCL2","BUB1","BUB1B","BUB3","BUD23","C12orf57","C2CD3","CA2","CACNA1A","CACNA1B","CACNA1C","CACNA2D1","CAMK2B","CAMK2G","CAMKMT","CAMSAP1","CAMTA1","CARS1","CASK","CASZ1","CAV1","CAVIN1","CBFB","CBL","CC2D2A","CCBE1","CCDC22","CCDC47","CCDC8","CCDC88A","CCND2","CCNK","CCNQ","CDC42","CDC42BPB","CDC6","CDH1","CDH11","CDH2","CDK19","CDK5","CDK5RAP2","CDK6","CDK8","CDKL5","CDKN1C","CELF2","CENPE","CENPJ","CEP135","CEP152","CEP290","CEP57","CEP63","CHAT","CHD1","CHD2","CHD3","CHD5","CHRNA7","CHST14","CHST3","CIT","CITED2","CKAP2L","CLCN3","CLCN7","CLIP2","CLP1","CLTC","CNKSR2","CNOT1","CNOT3","COASY","COG4","COG5","COG7","COL11A1","COL11A2","COL13A1","COL18A1","COL1A1","COL1A2","COL25A1","COL27A1","COL2A1","COL9A2","COLEC11","COPB2","COX4I1","COX5A","COX7B","CPLANE1","CPLX1","CPOX","CPT2","CREBBP","CRIPT","CRPPA","CRTAP","CSGALNACT1","CSPP1","CTBP1","CTCF","CTNND1","CTNS","CTSD","CTSK","CTU2","CUL4B","CUL7","CUX1","CWC27","CYFIP2","CYP27B1","CYP2R1","D2HGDH","DALRD3","DCHS1","DDB1","DDR2","DDX11","DDX59","DDX6","DEAF1","DENND5A","DHCR24","DHCR7","DHDDS","DHX30","DIAPH1","DICER1","DIS3L2","DLK1","DLL3","DLX3","DLX4","DLX5","DMXL2","DNAJC30","DNM1","DNMT3A","DOCK6","DOCK7","DPF2","DPH1","DPH2","DPH5","DPM1","DPM2","DPP9","DPYD","DPYSL5","DSE","DTYMK","DVL1","DVL3","DYNC1H1","DYNC1I2","DYNC2H1","DYNC2I1","DYNC2I2","DYRK1A","EBF3","EBP","EDA","EDA2R","EDAR","EDARADD","EED","EEF1A2","EFEMP2","EFNB1","EIF2S3","EIF4H","EIF5A","ELN","EMC1","EMC10","EMG1","EP300","EPB41","EPB41L1","EPG5","ERCC1","ERCC2","ERCC4","ERCC5","ERCC6","ERF","ERMARD","ETFA","ETFB","ETFDH","EXOC2","EXOSC1","EXOSC2","EXOSC5","EXT2","EXTL3","EZH2","FAM111A","FAM149B1","FAM50A","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FARSB","FAT4","FBLN5","FBN1","FBN2","FBXO11","FBXO28","FBXO31","FGD1","FGF12","FGF13","FGFR1","FGFR2","FGFR3","FGFRL1","FH","FIG4","FKBP14","FKBP6","FKRP","FKTN","FLCN","FLI1","FLII","FLNA","FLNB","FLT4","FMR1","FOCAD","FOS","FOXC1","FOXG1","FOXP1","FRA10AC1","FRAS1","FREM1","FREM2","FRMD4A","FRMPD4","FUCA1","FUT8","FZD2","FZR1","GABBR2","GABRA2","GABRA5","GABRB2","GABRD","GABRG2","GALNT2","GATA1","GATA4","GATA5","GATA6","GATAD2B","GCK","GDF1","GDF11","GET4","GH1","GHR","GJA1","GJA5","GJA8","GJB2","GJB6","GK","GLB1","GLE1","GLI3","GMNN","GMPPA","GNAO1","GNB2","GNE","GNPAT","GNPTAB","GNS","GOLGA2","GON7","GPAA1","GPC3","GPC4","GPC6","GPKOW","GPR101","GPT2","GRB10","GRIN1","GRIN2D","GRM7","GTF2I","GTF2IRD1","GTF2IRD2","GTPBP2","GYPC","H1-4","H19","H3-3A","H3-3B","H4C5","H4C9","HBA1","HBA2","HBB","HCN1","HDAC4","HDAC6","HDAC8","HEATR3","HECTD4","HECW2","HEPACAM","HERC1","HERC2","HES7","HESX1","HIC1","HIVEP2","HK1","HMGA2","HNRNPH1","HNRNPK","HNRNPU","HOXB1","HOXD13","HRAS","HS2ST1","HS6ST2","HSD17B4","HSPG2","HUWE1","HYOU1","IARS2","IDH1","IDUA","IER3IP1","IFIH1","IFT122","IFT140","IFT43","IFT52","IFT57","IFT80","IFT81","IGBP1","IGF1","IGF2","IKBKG","IL11RA","IL2RA","IL6ST","INPP5E","INPPL1","INS","INSR","INTS1","INTS8","INTU","IPO8","IQSEC2","IRX5","ITCH","ITGA3","JAG1","JARID2","KANSL1","KAT6A","KAT6B","KATNB1","KATNIP","KCNA1","KCNA2","KCNAB2","KCNB1","KCNH1","KCNJ1","KCNJ11","KCNJ2","KCNJ5","KCNJ6","KCNJ8","KCNK4","KCNK9","KCNN3","KCNQ1","KCNQ1OT1","KCTD1","KDF1","KDM1A","KDM4B","KDM5B","KDM5C","KDM6B","KDR","KIAA0586","KIAA0753","KIDINS220","KIF11","KIF14","KIF26A","KIF7","KIFBP","KLF1","KMT2A","KMT2B","KMT2D","KMT2E","KMT5B","KNL1","KNSTRN","KPTN","KRAS","KREMEN1","KYNU","LAGE3","LARGE1","LARP7","LARS1","LBR","LEMD2","LEMD3","LETM1","LFNG","LGI4","LHX3","LHX4","LIFR","LIG4","LIMK1","LMBRD2","LMNB1","LMX1B","LRP1","LRP2","LRP4","LRP5","LRPPRC","LTBP4","LUZP1","LZTR1","MAB21L1","MAB21L2","MAD1L1","MAD2L2","MADD","MAF","MAGEL2","MAN1B1","MAN2B1","MAN2C1","MAP1B","MAP2K1","MAP2K2","MAP3K7","MAPK1","MAPKAPK5","MAPRE2","MARS2","MBD5","MBTPS1","MBTPS2","MCM7","MCPH1","MDH1","MED12","MED12L","MED13L","MED25","MED27","MEF2C","MEG3","MEGF8","MEIS2","MEN1","MESP2","METTL27","METTL5","MFSD2A","MGP","MID1","MITF","MKRN3","MKS1","MLXIPL","MMACHC","MMP2","MMP23B","MN1","MOCS1","MOCS2","MPDZ","MRAS","MSX2","MTM1","MTOR","MTSS2","MTX2","MYH3","MYO18B","MYO9A","MYOD1","NAA10","NAA20","NAB2","NALCN","NANS","NARS1","NARS2","NBAS","NBN","NCAPD2","NCAPD3","NCAPG2","NCAPH","NCF1","NDE1","NECAP1","NELFA","NEPRO","NEU1","NEUROD2","NEXMIF","NF1","NFIA","NFIB","NFIX","NFKBIA","NGLY1","NHEJ1","NIPA1","NIPA2","NIPBL","NKX2-5","NKX2-6","NLRP3","NONO","NOTCH2","NOTCH3","NOVA2","NPAP1","NPHP3","NPR2","NRAS","NRCAM","NSD1","NSD2","NSRP1","NSUN2","NTNG2","NTRK2","NUDT2","NUP107","NUP133","NUP188","NUP37","NUS1","NXN","OBSL1","OCLN","OCRL","ODC1","OFD1","OPHN1","ORAI1","ORC1","OSGEP","OTUD5","P4HB","P4HTM","PACS1","PACS2","PAFAH1B1","PAH","PAK1","PAK3","PALB2","PAM16","PARS2","PCDHGC4","PCGF2","PCNT","PDCD6IP","PDE4D","PDE6D","PDGFRB","PDHA1","PDPN","PDX1","PEPD","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PEX7","PGAP1","PHC1","PHEX","PHF8","PHGDH","PHIP","PIGA","PIGB","PIGG","PIGK","PIGL","PIGN","PIGP","PIGQ","PIGS","PIGT","PIGU","PIGY","PIK3C2A","PIK3CA","PIK3CD","PIK3R1","PIK3R2","PITX2","PKDCC","PLA2G6","PLAG1","PLCH1","PLK4","PMM2","PNKP","PNPLA6","POC1A","POGZ","POLE","POLR1B","POLR1C","POLR1D","POLR2A","POLR3A","POMT1","POMT2","POR","POU1F1","POU4F1","PPARG","PPFIBP1","PPM1B","PPM1D","PPP1CB","PPP1R15B","PPP1R21","PPP2CA","PPP2R1A","PPP2R3C","PPP2R5D","PPP3CA","PRDM13","PRDM16","PRDX1","PREPL","PRIM1","PRKACB","PRKAR1B","PRKCZ","PRKD1","PRKDC","PRMT7","PROP1","PRPS1","PRUNE1","PSAT1","PSPH","PTCH1","PTCH2","PTDSS1","PTEN","PTH1R","PTHLH","PTPN11","PUF60","PUM1","PURA","PUS7","PWAR1","PWRN1","PYCR1","PYCR2","QARS1","RAB18","RAB39B","RAB3GAP1","RAB3GAP2","RAD21","RAD51","RAD51C","RAF1","RAI1","RALA","RALGAPA1","RARS2","RASA2","RBBP8","RBL2","RBM10","RBM8A","RECQL4","RELN","RERE","RFC2","RFWD3","RFX7","RHOBTB2","RIN2","RIPPLY2","RIT1","RLIM","RMRP","RNF113A","RNF125","RNF13","RNF135","RNPC3","RNU12","RNU4ATAC","ROBO1","ROR2","RPGRIP1","RPGRIP1L","RPL10","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS6KA3","RPS7","RRAS","RRAS2","RRP7A","RSPO2","RSPRY1","RTL1","RTTN","RUNX2","RYR1","RYR3","SALL4","SARS1","SASS6","SATB1","SATB2","SC5D","SCN1A","SCN1B","SCN2A","SCN3A","SCN4A","SCN8A","SCNM1","SCUBE3","SCYL2","SEC23A","SEC24D","SEPSECS","SERPINH1","SETBP1","SETD1A","SETD2","SETD5","SH2B1","SH3PXD2B","SHOC2","SHPK","SIK1","SIK3","SIM1","SIN3A","SIX2","SIX6","SKI","SKIC2","SKIC3","SLC12A2","SLC12A6","SLC13A5","SLC16A2","SLC18A3","SLC1A2","SLC1A3","SLC25A1","SLC25A12","SLC25A19","SLC25A22","SLC25A24","SLC25A46","SLC26A2","SLC2A1","SLC32A1","SLC34A3","SLC35C1","SLC38A3","SLC39A13","SLC3A1","SLC5A7","SLC6A1","SLC6A8","SLC9A7","SLX4","SMAD2","SMAD3","SMARCA2","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SMC1A","SMC3","SMC5","SMG8","SMG9","SMO","SMOC1","SMPD4","SNAP25","SNORD115-1","SNORD116-1","SNRPN","SNX10","SNX14","SON","SOS1","SOS2","SOST","SOX11","SOX2","SOX4","SOX5","SOX6","SOX9","SP7","SPATA5L1","SPECC1L","SPEN","SPOP","SPRED2","SPRTN","SPTA1","SPTB","SPTBN1","SRC","SRCAP","STAG2","STAMBP","STAT3","STAT5B","STAT6","STEEP1","STIL","STIM1","STRADA","STT3A","STX1A","STXBP1","SUFU","SUMF1","SUOX","SUPT16H","SUZ12","SVBP","SYNGAP1","SYNJ1","SYT1","SYT2","SZT2","TAB2","TAF1","TAF13","TAF6","TAFAZZIN","TAOK1","TAPT1","TASP1","TBC1D20","TBC1D24","TBC1D7","TBCD","TBCE","TBCK","TBL1XR1","TBL2","TBX1","TBX15","TBX2","TBX4","TCEAL1","TCF12","TCF20","TCF4","TCIRG1","TCOF1","TCTN1","TCTN2","TCTN3","TECPR2","TENT5A","TET3","TFAP2A","TFAP2B","TGFB1","THOC2","THOC6","THSD1","THUMPD1","TIMM50","TMCO1","TMEM107","TMEM147","TMEM216","TMEM231","TMEM237","TMEM270","TMEM53","TMEM67","TMLHE","TNPO2","TOE1","TOGARAM1","TONSL","TOPORS","TP53RK","TP63","TRAF6","TRAK1","TRAPPC10","TRAPPC14","TRAPPC4","TRAPPC9","TRIM37","TRIM8","TRIO","TRIP11","TRIP12","TRIP13","TRMT10A","TRPM3","TRPS1","TRPV4","TRPV6","TRRAP","TSEN15","TSEN2","TSEN34","TSEN54","TSPEAR","TSR2","TTC26","TTC5","TTC7A","TTI2","TUBG1","TUBGCP2","TUBGCP4","TUBGCP6","TWIST1","TWIST2","TXNDC15","UBA2","UBA5","UBE2A","UBE2T","UBE4B","UBR7","UFC1","UGP2","UNC45A","UNC80","UPF3B","USB1","USP9X","VAC14","VAMP1","VARS1","VDR","VIPAS39","VPS13B","VPS33A","VPS33B","VPS35L","VPS37D","VPS53","WAC","WARS1","WASHC4","WASHC5","WBP11","WDR19","WDR35","WDR37","WDR4","WDR62","WDR73","WLS","WNT4","WNT5A","WWOX","XRCC2","XRCC4","YWHAE","YWHAG","YY1","ZBTB18","ZBTB20","ZBTB7A","ZC4H2","ZDHHC9","ZEB2","ZFHX4","ZFPM2","ZIC1","ZIC2","ZNF148","ZNF292","ZNF335","ZNF462","ZNF526","ZNF699","ZNF711","ZNHIT3","ZPR1","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_FACIAL_ADIPOSE_TISSUE":{"collection":"C5:HPO","systematicName":"M34649","pmid":"","exactSource":"HP:0000291","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000291","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_FACIAL_ADIPOSE_TISSUE","geneSymbols":["CIDEC","ERCC6","ERCC8","KCNJ6","LMNA","LMNB2","POLR3A","PPARG","PSMB8","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FULL_CHEEKS":{"collection":"C5:HPO","systematicName":"M34650","pmid":"","exactSource":"HP:0000293","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000293","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FULL_CHEEKS","geneSymbols":["ACTB","ACTG1","AFF4","AGL","AIP","ASXL1","ATP7A","B9D1","B9D2","BICRA","BMP2","BRAF","CC2D2A","CCDC88A","CDC42BPB","CDK5","CEP290","CLCF1","CLCN3","CPE","CREBBP","CRLF1","CSPP1","DDB1","DDX3X","DLK1","DPM1","DPYD","DTYMK","EDN1","EEF1A2","EIF2S3","ELMO2","ELN","EP300","EXTL3","EYA1","FAT4","FBN1","FGF3","FLNA","GATA4","GNAI3","GNAS","GNB2","GPR101","H1-4","HEATR3","HRAS","HSPG2","IARS1","IDS","IDUA","IER3IP1","IFT122","IFT140","IFT52","INTS1","KCNH1","KDM6B","KIDINS220","KIF11","KIF1A","KLHL7","KMT2B","KMT2E","KRAS","LARS1","LIFR","LMNA","LMX1B","LTBP3","MAP2K1","MAP2K2","MAP3K7","MAPK8IP3","MEG3","MKS1","MLXIPL","MOCS1","MOCS2","MTHFS","NALCN","NEK9","NOTCH2","NRAS","OCRL","PAX1","PCLO","PCNT","PIGB","PIGN","PIGQ","PIK3CA","PLCB4","PPP1R15B","PSPH","PUF60","PURA","RPGRIP1","RPGRIP1L","RTL1","SC5D","SETD1A","SETD1B","SH3BP2","SH3PXD2B","SHANK3","SIM1","SLC26A2","SLC29A3","SLC35A2","SLC37A4","SNX14","SON","SOX11","SPTBN1","STAG2","STX16","STXBP1","TAFAZZIN","TBCE","TBL1XR1","TCF4","TCTN1","TCTN2","TCTN3","TECPR2","TFE3","TGDS","TMEM107","TMEM216","TMEM231","TMEM237","TMEM67","TRMT10A","TXNDC15","UFC1","VPS33A","WAC","WDR19","WDR26","WDR35","YARS1","ZNHIT3","ZPR1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LOW_ANTERIOR_HAIRLINE":{"collection":"C5:HPO","systematicName":"M34651","pmid":"","exactSource":"HP:0000294","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000294","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOW_ANTERIOR_HAIRLINE","geneSymbols":["ABCC9","ADA2","AGPAT2","AIFM1","ALG11","ANKRD11","ARID1A","ARID1B","ARID2","ARX","ASH1L","ASXL1","ATP6V1B2","BICRA","BRCA1","BRD4","BSCL2","CAV1","CAVIN1","CDC42BPB","CDK5","CIT","CLCN3","COG7","CREBBP","DOCK6","DOCK7","DPF2","DPM2","EMC1","EP300","ERMARD","FGFR2","FGFR3","FKRP","FOS","FREM2","FRMD4A","GATA1","H3-3A","H4C5","HDAC8","HEATR3","HSPG2","IGF1","INSR","KCNH1","KCNJ8","KCNN3","KREMEN1","LIG4","LRPPRC","MAB21L1","MAN2B1","MAP3K7","MAPRE2","MED13L","MEGF8","NANS","NBN","NIPBL","NOTCH2","NSUN2","NUDT2","PACS1","PEPD","PGAP1","PIK3C2A","POLR1B","POLR1C","POLR1D","PPARG","PPP1R15B","PRDM13","RAB18","RAB3GAP2","RAD21","RALGAPA1","RBL2","RHOBTB2","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS7","SETD5","SH2B1","SLC12A6","SLC25A24","SLC35C1","SMARCA2","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SMC1A","SMC3","SMPD4","SOX11","SOX4","SPATA5L1","SPEN","SPOP","STAG2","SVBP","TAF6","TBC1D20","TBC1D24","TBX15","TBX2","TCF12","TCOF1","TECPR2","TMCO1","TRIO","TRMT10A","TRPM3","TSR2","TTC5","TWIST1","TWIST2","VPS13B","VPS33A","XRCC4","ZIC1","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FACIAL_HYPOTONIA":{"collection":"C5:HPO","systematicName":"M34652","pmid":"","exactSource":"HP:0000297","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000297","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FACIAL_HYPOTONIA","geneSymbols":["AMPD2","AP4B1","AP4E1","AP4M1","AP4S1","ASXL1","ATP1A2","ATP1A3","CACNA1A","CAMK2G","CHAMP1","DMPK","DSE","DYNC1H1","GAA","GPC3","GPC4","GRIA3","HERC1","KCNK4","KDM4B","KDM5C","MAN2B1","MECP2","MYOT","NGLY1","PAX7","PCGF2","POGZ","POU3F3","PPP2R1A","PPP2R5D","PURA","RAB11B","SATB2","SET","SLC1A3","SLC30A9","STAG2","STRADA","TET3","UNC80","VPS13B","XYLT2","YY1","ZBTB11","ZMIZ1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MASK_LIKE_FACIES":{"collection":"C5:HPO","systematicName":"M34653","pmid":"","exactSource":"HP:0000298","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000298","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MASK_LIKE_FACIES","geneSymbols":["ACTA1","ADH1C","ATP13A2","ATP6AP2","ATP6V1A","ATP7A","ATXN2","ATXN8OS","DCTN1","DNMT3B","DUX4","DUX4L1","EIF2AK2","FA2H","FKRP","FKTN","FMR1","FRG1","GBA1","GLUD2","HSPG2","ITPR1","KCNJ6","KDM6A","KMT2D","LARGE1","MAPT","MRE11","MT-TT","MYH3","NR4A2","PABPN1","PANK2","PAX6","PDGFB","PDGFRB","PIEZO2","PLXND1","POLG","POMT1","POMT2","PRNP","REV3L","RIPK4","SLC20A2","SLC6A8","SMCHD1","SNCAIP","TBP","TH","TK2","TRIM32","UBA5","UBE3A","UFC1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_OVAL_FACE":{"collection":"C5:HPO","systematicName":"M34654","pmid":"","exactSource":"HP:0000300","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000300","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OVAL_FACE","geneSymbols":["ADARB1","B3GALT6","CASK","CNTN1","EBF3","EXOC2","HYOU1","NFIX","PUF60","SH2B1","SLC25A12","SOX18","SPEN","SPTBN1","TP63","TSPEAR"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_FACIAL_MUSCULATURE":{"collection":"C5:HPO","systematicName":"M34655","pmid":"","exactSource":"HP:0000301","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000301","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_FACIAL_MUSCULATURE","geneSymbols":["ABCA1","ABCD1","ACADS","ACTA1","ACTN2","ADA2","ADCY5","ADCY6","ADGRG1","ADNP","ADSS1","AGRN","AK9","AKT1","ALG14","ALG2","ALS2","AMER1","AMPD2","ANKH","ANO5","ANTXR1","ANXA11","AP4B1","AP4E1","AP4M1","AP4S1","ASAH1","ASXL1","ATP13A2","ATP1A2","ATP1A3","ATP6AP2","ATXN1","BAG3","BAP1","BICRA","BIN1","BMS1","BTNL2","CACNA1A","CACNA1S","CADM3","CAMK2G","CAPN3","CC2D1A","CFL2","CHAMP1","CHAT","CHCHD10","CHD7","CHKB","CHRNA1","CHRNB1","CHRND","CHRNE","CHRNG","CLCF1","CLCN7","CLTC","CNBP","CNTNAP1","COL12A1","COL13A1","COL25A1","COL4A1","COL6A1","COL6A2","COL6A3","COLQ","COX6A2","CRLF1","CRPPA","CRYAB","DBH","DCTN1","DDHD2","DES","DLL4","DMPK","DNAJB6","DNAJC13","DNAJC6","DNM1L","DNM2","DNMT3B","DOK7","DPAGT1","DSE","DYNC1H1","EBF3","EIF4G1","EYA1","FBXO7","FKRP","FKTN","FLNC","FRG1","FTL","GAA","GAN","GBA1","GDAP1","GFPT1","GIGYF2","GIPC1","GJA1","GJC2","GLE1","GMPPB","GNE","GPC3","GPC4","GRIA3","GSN","HACD1","HERC1","HK1","HLA-DRB1","HOXB1","IRF2BPL","IRF6","ITGA7","ITGB4","JAG2","JAM2","KBTBD13","KCNK4","KCNK9","KDM4B","KDM5C","KIF1B","KLHL40","KLHL41","KMT2D","KY","LAMA2","LAMB2","LARGE1","LGI3","LMOD3","LPIN1","LRIF1","LRP12","LRP4","LRP5","LRRK2","MAN2B1","MAP3K20","MB","MECP2","MEGF10","MGME1","MPZ","MSTO1","MSX1","MT-CO1","MT-CO3","MT-TE","MT-TN","MT-TS1","MTM1","MTMR14","MTMR2","MTRFR","MUSK","MYH7","MYL1","MYL2","MYMK","MYMX","MYO9A","MYOT","MYPN","NARS2","NEB","NECTIN1","NEFL","NF2","NFU1","NGLY1","NOD2","NOTCH2NLC","NUTM2B-AS1","OBSCN","OGDHL","OPA1","OSTM1","PABPN1","PAX7","PCGF2","PDGFB","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PI4KA","PIK3CA","PLA2G6","PLAA","PLEC","PLXND1","PNPT1","PODXL","POGZ","POLG","POLG2","POMT1","POMT2","POU3F3","PPP2R1A","PPP2R2B","PPP2R5D","PRDX3","PRKCG","PRRT2","PTDSS1","PTRH2","PUF60","PURA","RAB11B","RAPSN","REV3L","RILPL1","RNASEH1","RRM2B","RYR1","RYR3","SALL4","SATB2","SBF2","SCN1A","SCN4A","SCO2","SELENON","SEMA3E","SET","SF3B2","SGCD","SH3TC2","SHMT2","SIX1","SIX5","SLC12A6","SLC18A2","SLC18A3","SLC19A3","SLC1A3","SLC25A1","SLC25A21","SLC25A4","SLC25A42","SLC30A10","SLC30A9","SLC39A14","SLC52A2","SLC52A3","SLC5A7","SLC6A3","SMARCB1","SMARCE1","SMCHD1","SMO","SNAP25","SNCA","SNX10","SOST","SPEG","SPR","SPTBN2","SPTBN4","SQSTM1","SRPX2","STAC3","STAG2","STRADA","SUCLA2","SUFU","SUPT16H","SURF1","SYNE1","SYNJ1","SYT2","TCIRG1","TECPR2","TERT","TET3","TFAP2A","TGFB1","TK2","TNFSF11","TNNC2","TNNT1","TOR1A","TP63","TPM2","TPM3","TRAF7","TREX1","TRIM32","TRPV4","TTN","TUBB3","TUBB6","TWNK","TXNL4A","UBA1","UBA2","UBE2T","UNC80","VAMP1","VCP","VPS13B","VPS35","XRCC2","XYLT2","YARS1","YME1L1","YY1","ZBTB11","ZC4H2","ZFHX4","ZMIZ1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MANDIBULAR_PROGNATHIA":{"collection":"C5:HPO","systematicName":"M34656","pmid":"","exactSource":"HP:0000303","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000303","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MANDIBULAR_PROGNATHIA","geneSymbols":["ACAN","ACTA1","ADAMTSL1","ADAMTSL4","AFF3","AGA","AGPAT2","AIMP2","AIP","ALG14","ANKH","ANTXR1","AP1S2","AP4M1","APC","APC2","ATAD3A","ATP10A","ATP6V0A1","ATP6V1E1","ATRX","BSCL2","CACNA1G","CAV1","CAVIN1","CDC42BPB","CDH11","CHRNE","CLCN3","CLCN4","CLIC2","CNOT3","COLQ","CSNK2B","CUL4B","CUL7","DEAF1","DHX30","DLK1","DNMT3A","DOCK3","DYM","EHMT1","ERCC1","ERCC4","ERCC6","ERCC8","EXOSC5","EZH2","FAM20C","FBN1","FBXW11","FGFR1","FGFR2","FLCN","FLII","FMR1","FOS","FOXG1","FOXP1","GALNS","GFPT1","GJA1","GJA5","GJA8","GLB1","GNB2","GNPTAB","GORAB","GPC3","GPC4","GPR101","GRIA3","GRIA4","H3-3A","H3-3B","H4C5","HERC1","HERC2","HNF1B","HNRNPH1","HS6ST2","IARS2","IDUA","IL11RA","IL1RAPL1","IL6ST","INSR","IQSEC2","KAT5","KAT6A","KCNH1","KCTD1","KDM5C","KDM6B","KIF11","KIF7","KPTN","LAMB2","LRP4","LRP5","LTBP3","MAF","MAGEL2","MAN2B1","MBD5","MED13L","MED25","MEG3","MEN1","MESD","MGAT2","MSTO1","MYH3","MYH7","MYH8","MYOD1","NDST1","NEXMIF","NFIX","NHS","NSD1","NSRP1","OCA2","OCRL","OPHN1","P4HTM","PAX3","PCDHGC4","PCGF2","PDE4D","PGAP2","PGAP3","PIGL","PIGO","PIGV","PIGW","PIGY","PMM2","POC1A","POGZ","PPARG","PQBP1","PRKACB","PRKAR1A","PRKG2","PTCH1","PTCH2","PTDSS1","PTEN","PTPN11","PUF60","PYCR1","RAB33B","RAF1","RAI1","RECQL4","RFX7","RMRP","RNF113A","RNF125","RPL10","RPS6KA3","RTL1","RUNX2","RUSC2","SELENON","SETD2","SFRP4","SH3PXD2B","SLC10A7","SLC12A2","SLC25A24","SLC35A2","SLC35C1","SLC6A17","SLC6A8","SLC9A6","SMAD4","SMPD4","SMS","SNRPN","SOST","SOX18","SRCAP","STAG2","STEEP1","STT3A","SUFU","SUZ12","SVIL","TAFAZZIN","TBC1D2B","TBC1D7","TBCK","TGFB1","THUMPD1","TNFSF11","TNNI2","TONSL","TPRKB","TTN","TWIST2","TXNL4A","UBE3A","UPF3B","WDR62","ZEB2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_CHIN":{"collection":"C5:HPO","systematicName":"M34657","pmid":"","exactSource":"HP:0000306","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000306","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_CHIN","geneSymbols":["ABL1","ACAN","ACTA1","ACTB","ACTG1","ADAMTSL1","ADAMTSL4","ADNP","AFF3","AGA","AGPAT2","AIMP2","AIP","ALDH1A2","ALG13","ALG14","ANKH","ANKRD11","ANTXR1","AP1S2","AP4E1","AP4M1","APC","APC2","ARID1B","ASXL3","ATAD3A","ATP10A","ATP6V0A1","ATP6V1A","ATP6V1E1","ATRX","BAZ1B","BCL7B","BCR","BICRA","BMPR1A","BRAF","BSCL2","BUD23","CACNA1G","CAMK2B","CAMTA1","CASZ1","CAV1","CAVIN1","CBFB","CCDC8","CDC42BPB","CDH11","CDH2","CDK10","CHAMP1","CHD1","CHD7","CHD8","CHRNE","CHRNG","CLCN3","CLCN4","CLIC2","CLIP2","CNOT3","COA6","COL2A1","COL9A2","COLQ","COX7B","CRKL","CSNK2B","CTU2","CUL4B","CUL7","CYP26C1","DDR2","DEAF1","DHX30","DHX37","DLK1","DNAJC30","DNM1L","DNMT3A","DOCK3","DST","DYM","DYRK1A","EBF3","EDA","EED","EHMT1","EIF2S3","EIF4H","ELN","ERCC1","ERCC4","ERCC6","ERCC8","EXOSC5","EZH2","FAM20C","FBN1","FBXO31","FBXW11","FGF3","FGFR1","FGFR2","FIG4","FKBP6","FLCN","FLII","FLNA","FMR1","FN1","FOS","FOXG1","FOXP1","FRA10AC1","GABRD","GALNS","GFPT1","GJA1","GJA5","GJA8","GLB1","GNB2","GNPTAB","GORAB","GPC3","GPC4","GPR101","GRB10","GRIA3","GRIA4","GTF2I","GTF2IRD1","GTF2IRD2","H19","H3-3A","H3-3B","H4C5","HERC1","HERC2","HNF1B","HNRNPH1","HRAS","HS2ST1","HS6ST2","HSPG2","IARS2","IDUA","IGF2","IL11RA","IL1RAPL1","IL6ST","INSR","IQSEC2","ITCH","JARID2","KANSL1","KAT5","KAT6A","KCNAB2","KCNH1","KCNJ6","KCTD1","KDM3B","KDM5C","KDM6B","KIF11","KIF7","KIFBP","KNSTRN","KPTN","LAMB2","LIMK1","LMNA","LMNB1","LMX1B","LRP1","LRP4","LRP5","LTBP3","LUZP1","MADD","MAF","MAGEL2","MAN1B1","MAN2B1","MAP3K7","MAPK1","MBD5","MED12","MED12L","MED13L","MED25","MEF2C","MEG3","MEIS2","MEN1","MESD","METTL27","MGAT2","MLXIPL","MMP23B","MRAS","MSTO1","MTOR","MYH3","MYH7","MYH8","MYOD1","NAA10","NALCN","NCF1","NDST1","NDUFS4","NEXMIF","NFIA","NFIX","NGLY1","NHS","NOTCH2","NR2F1","NRCAM","NSD1","NSD2","NSRP1","NSUN2","OBSL1","OCA2","OCRL","OPHN1","OTUD5","P4HTM","PAPPA2","PARS2","PAX3","PCDHGC4","PCGF2","PDCD6IP","PDE4D","PDGFRB","PDPN","PGAP2","PGAP3","PGM2L1","PIEZO2","PIGB","PIGL","PIGO","PIGS","PIGU","PIGV","PIGW","PIGY","PIK3CD","PIK3R1","PLK4","PLOD3","PMM2","POC1A","POGZ","POLR3A","PORCN","POU4F1","PPARG","PPP1R21","PQBP1","PRDM16","PRKACB","PRKAR1A","PRKCZ","PRKDC","PRKG2","PTCH1","PTCH2","PTDSS1","PTEN","PTF1A","PTPN11","PUF60","PUS7","PYCR1","RAB33B","RAF1","RAI1","RALA","RECQL4","RERE","RFC2","RFX7","RMRP","RNF113A","RNF125","RNF13","RNU4ATAC","RPL10","RPS6KA3","RTL1","RUNX2","RUSC2","SCNM1","SCUBE3","SELENON","SEMA3E","SET","SETBP1","SETD2","SFRP4","SH3PXD2B","SHANK3","SIN3A","SKI","SLC10A7","SLC12A2","SLC25A24","SLC26A2","SLC35A2","SLC35C1","SLC37A4","SLC6A17","SLC6A8","SLC9A6","SLF2","SMAD4","SMARCA2","SMPD4","SMS","SNRPN","SNX14","SOST","SOX11","SOX18","SPECC1L","SPEN","SPOP","SPRED2","SPTBN1","SRCAP","STAG2","STEEP1","STT3A","STX1A","STXBP1","SUFU","SUZ12","SVIL","TAF1","TAFAZZIN","TBC1D2B","TBC1D7","TBCK","TBL2","TBX22","TFAP2A","TGFB1","THOC6","THUMPD1","TLK2","TMEM270","TMEM94","TNFSF11","TNNI2","TONSL","TPRKB","TRIO","TRIP12","TRPS1","TTC5","TTN","TUBGCP4","TUBGCP6","TWIST1","TWIST2","TXNL4A","UBE3A","UBE4B","UGDH","UPF3B","VAC14","VPS37D","WAC","WDR62","XRCC4","YY1","ZBTB24","ZEB2","ZMPSTE24","ZNF148","ZNF292","ZNF526"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_POINTED_CHIN":{"collection":"C5:HPO","systematicName":"M34658","pmid":"","exactSource":"HP:0000307","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000307","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POINTED_CHIN","geneSymbols":["ABL1","ACTB","ACTG1","ANKRD11","AP4E1","ATP6V1A","ATP6V1E1","BAZ1B","BCL7B","BCR","BICRA","BUD23","CAMTA1","CASZ1","CBFB","CCDC8","CDH11","CDH2","CDK10","CHAMP1","CHD1","CHD8","CHRNG","CLCN4","CLIP2","COL2A1","CRKL","CUL7","DHX37","DNAJC30","DNM1L","DOCK3","EIF4H","ELN","FGF3","FKBP6","FLNA","FN1","FRA10AC1","GABRD","GJA5","GJA8","GTF2I","GTF2IRD1","GTF2IRD2","HRAS","HS2ST1","HSPG2","INSR","JARID2","KAT6A","KCNAB2","KDM3B","KIF11","KIFBP","LIMK1","LMNB1","LUZP1","MADD","MAN1B1","MAP3K7","MAPK1","MED12L","MEIS2","MESD","METTL27","MLXIPL","MMP23B","MRAS","MYH3","NCF1","NFIX","NGLY1","NOTCH2","NR2F1","NSD1","OBSL1","OTUD5","PDCD6IP","PDGFRB","PDPN","PGM2L1","PIGB","PIGU","PLK4","PLOD3","POC1A","POGZ","POLR3A","PORCN","POU4F1","PRDM16","PRKCZ","PRKG2","PUS7","RALA","RERE","RFC2","RMRP","SCUBE3","SET","SETBP1","SETD2","SHANK3","SIN3A","SKI","SLC37A4","SNX14","SPEN","SPOP","SPRED2","SPTBN1","STX1A","TAF1","TAFAZZIN","TBC1D7","TBL2","THOC6","TLK2","TMEM270","TMEM94","TRIP12","TTC5","TUBGCP4","TUBGCP6","UBE4B","UGDH","VPS37D","YY1","ZEB2","ZNF148","ZNF292","ZNF526"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MICRORETROGNATHIA":{"collection":"C5:HPO","systematicName":"M34659","pmid":"","exactSource":"HP:0000308","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000308","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MICRORETROGNATHIA","geneSymbols":["AGRN","ALG13","ALG9","ATP6V0A2","B3GAT3","BANF1","C2CD3","CANT1","CEP120","CEP55","CHAT","CHST14","CHST3","COL13A1","COL2A1","CREB3L1","CRIPT","CSGALNACT1","CTNND2","DHCR7","DSE","EBP","EIF4A3","FBXL3","GAD1","GLDN","GLI3","GMNN","INTS1","IPO8","KAT6A","KATNB1","KCNK9","KIF7","KPTN","LMNA","MYH7","MYO9A","NAA10","NDE1","NEDD4L","NFIX","NSDHL","NSMCE2","OCLN","OFD1","ORC6","PAX1","PIGN","POLR1D","PRDM13","PRORP","PUF60","RELN","RPL10","RSPO2","RTTN","SEC24D","SELENON","SEMA5A","SF3B4","SIN3A","SLC10A7","SLC18A3","SLC25A1","SLC35A3","SLC5A7","SNAP25","SYT2","TAF1","TASP1","TELO2","TMEM70","TRIP4","TTN","TUBA1A","TXNDC15","VAMP1","WDR11","YARS1","ZC4H2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_MIDFACE_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M34660","pmid":"","exactSource":"HP:0000309","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000309","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MIDFACE_MORPHOLOGY","geneSymbols":["ACAN","ACP5","ACSL4","ACTB","ACTG1","ADAMTSL4","ADNP","AEBP1","AFF4","AGL","AIFM1","AIP","ALG12","ALX1","ALX3","AMMECR1","AMPD2","ANK1","ANKRD11","ANKRD17","ANTXR1","APC","ARID1B","ARVCF","ASPH","ASXL1","ASXL3","ATP6V0A2","ATP6V1A","ATP6V1E1","ATP7A","ATRX","AUTS2","B3GALT6","B3GAT3","B3GLCT","B4GALT7","B9D1","B9D2","BANF1","BAZ1B","BBS7","BCL11A","BCL7B","BCOR","BCR","BGN","BICD2","BICRA","BLM","BMP2","BMP4","BPTF","BRAF","BRF1","BUB1B","BUD23","CA2","CAMK2B","CANT1","CASZ1","CAV1","CBL","CC2D2A","CCBE1","CCDC22","CCDC47","CCDC8","CCDC88A","CDC42","CDC42BPB","CDH11","CDK19","CDK5","CDKN1C","CEP120","CEP290","CHD1","CHD3","CHD7","CHN1","CHST3","CILK1","CITED2","CLCF1","CLCN3","CLCN4","CLIP2","CNOT1","CNOT3","COG1","COG4","COL11A1","COL11A2","COL18A1","COL1A1","COL27A1","COL2A1","COL5A1","COL9A1","COL9A2","COL9A3","COMT","COX15","COX7B","CPE","CPLX1","CREBBP","CRKL","CRLF1","CRTAP","CSGALNACT1","CSPP1","CTBP1","CTCF","CTDP1","CTNND2","CTSK","CUL7","CYP26C1","DACT1","DCHS1","DDB1","DDR2","DDX3X","DEAF1","DHODH","DHX37","DICER1","DLG3","DLK1","DLX4","DNAJC30","DNMT3B","DPH5","DPM1","DPYD","DPYSL5","DSE","DTYMK","DVL1","DVL3","EBP","EDN1","EDNRA","EEF1A2","EFEMP2","EFTUD2","EHMT1","EIF2AK3","EIF2S3","EIF4H","ELMO2","ELN","EP300","EPB41L1","ERF","ESCO2","EXT2","EXTL3","EYA1","FAM20C","FAM50A","FAT4","FBLN5","FBN1","FGF3","FGFR1","FGFR2","FGFR3","FGFRL1","FIBP","FKBP6","FLII","FLNA","FLNB","FLT4","FN1","FOXC1","FOXG1","FOXP1","FZD2","GABRD","GATA1","GATA4","GATA5","GATA6","GDF1","GDF11","GHR","GJA5","GJA8","GLI2","GMNN","GNAI3","GNAS","GNB2","GNPAT","GORAB","GP1BB","GPC3","GPC4","GPC6","GPR101","GRIA3","GRIA4","GRIN1","GSC","GTF2I","GTF2IRD1","GTF2IRD2","H1-4","H19","H3-3A","H3-3B","H4C3","H4C5","H4C9","HBA1","HBA2","HBB","HCCS","HDAC4","HDAC8","HEATR3","HECW2","HEPACAM","HERC1","HESX1","HIRA","HK1","HNRNPH1","HNRNPH2","HNRNPK","HNRNPU","HOXB1","HRAS","HS6ST2","HSPA9","HSPG2","IARS1","IARS2","IDS","IDUA","IER3IP1","IFT122","IFT140","IFT52","IFT81","IGF2","IL11RA","INPPL1","INTS1","IPO8","IQSEC2","IREB2","IRX5","ITCH","JAG1","JARID2","JMJD1C","KAT6A","KAT6B","KCNAB2","KCNE5","KCNH1","KCNJ2","KCNQ1","KCNQ1OT1","KDM6A","KDM6B","KDR","KIDINS220","KIF11","KIF15","KIF1A","KIF22","KIF7","KLHL7","KMT2B","KMT2C","KMT2D","KMT2E","KRAS","LARP7","LARS1","LAS1L","LBR","LEMD2","LETM1","LHX3","LHX4","LIFR","LIMK1","LINS1","LMNA","LMX1B","LRP1","LRP2","LRP4","LRP5","LRPPRC","LRRC32","LTBP1","LTBP3","LTBP4","LUZP1","LZTR1","MAD1L1","MAF","MAFB","MAN1B1","MAN2B1","MAP2K1","MAP2K2","MAP3K7","MAPK1","MAPK8IP3","MBD5","MECP2","MED12","MED13L","MEG3","MEGF8","MESD","METTL27","MGP","MID1","MIPEP","MIR140","MITF","MKS1","MLXIPL","MMP23B","MN1","MOCS1","MOCS2","MRAS","MRPS14","MSL3","MTHFS","MTOR","MYH3","MYSM1","NAA10","NALCN","NBAS","NBN","NCF1","NDP","NDUFB11","NECTIN1","NEK9","NEPRO","NF1","NFIX","NGF","NGLY1","NKAP","NKX2-5","NKX2-6","NONO","NOTCH2","NOTCH3","NPHP3","NPR3","NRAS","NSD2","NSDHL","NSMCE2","NSMCE3","NTRK1","NXN","OBSL1","OCRL","ODC1","OFD1","OSGEP","OTUD5","P4HB","PAK2","PAX1","PAX3","PCGF2","PCLO","PCNT","PDE4D","PDGFRB","PDPN","PDZD8","PEPD","PEX1","PEX12","PEX7","PIGA","PIGB","PIGN","PIGQ","PIGS","PIGT","PIGU","PIGV","PIK3CA","PIK3R1","PITX2","PKD2","PLCB4","PLOD3","PLP1","POGZ","POLE","POLR1A","POLR1B","POLR1C","POLR1D","POLR3A","POMGNT1","POP1","POR","POU1F1","PPP1CB","PPP1R15B","PPP2R5D","PQBP1","PRDM16","PRKACA","PRKAR1A","PRKCZ","PRMT7","PROP1","PRR12","PSMC1","PSMC3","PSMD12","PSPH","PTCH1","PTEN","PTH1R","PTPN11","PTRH2","PUF60","PURA","PYCR1","PYCR2","RAB23","RAB3GAP1","RAB3GAP2","RAC3","RAF1","RAI1","RASA2","RBM8A","RDH11","RERE","RFC2","RFWD3","RFX7","RHOA","RIT1","RLIM","RNF13","RNU12","RNU4ATAC","ROR2","RPGRIP1","RPGRIP1L","RPS26","RPS28","RRAS","RRAS2","RREB1","RSPRY1","RTL1","RUNX2","RYR1","SALL1","SALL4","SATB1","SATB2","SC5D","SCARF2","SEC23A","SEC24C","SEC24D","SEMA3E","SEMA5A","SERPINH1","SETBP1","SETD1A","SETD1B","SETD2","SF3B2","SF3B4","SH2B1","SH3BP2","SH3PXD2B","SHANK3","SHH","SIM1","SIX1","SIX3","SIX5","SKI","SLC25A24","SLC26A2","SLC29A3","SLC2A10","SLC35A2","SLC35D1","SLC37A4","SLC6A8","SLC9A7","SMAD2","SMAD3","SMAD4","SMARCA2","SMC1A","SMCHD1","SNRPB","SNRPN","SNX14","SON","SOS1","SOS2","SOST","SOX11","SOX9","SP7","SPART","SPECC1L","SPEN","SPRED2","SPTBN1","STAC3","STAG2","STRADA","STX16","STX1A","STXBP1","SVBP","SYK","TAFAZZIN","TASP1","TAT","TBCE","TBL1XR1","TBL2","TBX1","TBX22","TBX4","TCF12","TCF20","TCF4","TCOF1","TCTN1","TCTN2","TCTN3","TECPR2","TFAP2A","TFAP2B","TFE3","TGDS","TGFB3","TGFBR1","TGFBR2","TLK2","TMCO1","TMEM107","TMEM165","TMEM216","TMEM231","TMEM237","TMEM260","TMEM270","TMEM67","TONSL","TP63","TRIO","TRMT10A","TRPM3","TSEN54","TSR2","TUBB4A","TUBGCP2","TWIST1","TWIST2","TXNDC15","TXNL4A","UBE2A","UBE3B","UBE4B","UFC1","UFD1","USB1","VPS13B","VPS33A","VPS35L","VPS37D","WAC","WASF1","WASHC5","WBP11","WDR19","WDR26","WDR35","WDR73","WLS","WNT5A","XRCC4","XYLT2","YARS1","YME1L1","YY1","ZBTB20","ZFPM2","ZIC1","ZMIZ1","ZNF407","ZNF462","ZNF668","ZNHIT3","ZPR1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ROUND_FACE":{"collection":"C5:HPO","systematicName":"M34661","pmid":"","exactSource":"HP:0000311","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000311","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ROUND_FACE","geneSymbols":["ACTG2","ADAMTSL2","ADARB1","AFF4","AGO1","AKT1","ALMS1","ANKRD11","ARMC5","B3GLCT","BRPF1","CACNA1C","CANT1","CENPE","CHSY1","COL11A1","COL11A2","COL2A1","COL6A1","COL6A2","COL6A3","CPE","CRTAP","CSGALNACT1","CTNND2","DIS3L2","DNMT3A","ECEL1","EED","EIF2S3","EXOC8","EZH2","FBN1","FBXO31","FGD1","FIBP","GJA5","GJA8","GNAI3","GNAS","HDAC4","HOXD13","HRAS","IARS1","ITGA3","KAT5","KDM4B","KDM6B","KIF15","KMT2A","LMNA","LMX1B","LTBP3","MAPK8IP3","MED13L","MRPL12","MRPS28","NEDD4L","NEXMIF","NRAS","NSD1","P3H1","PAM16","PDE11A","PDE4D","PEX1","PEX2","PEX6","PGAP2","PGAP3","PHIP","PIGL","PIGO","PIGV","PIGW","PIGY","PLCB4","PPP1R15B","PRKAR1A","PRKAR1B","PTEN","RBL2","RECQL","RNU4ATAC","SEMA5A","SEPTIN9","SH3BP2","SLC10A7","SLC37A4","SMC1A","SPECC1L","STX16","STXBP1","SUZ12","TAFAZZIN","TECPR2","TMEM67","TOR1A","TRAPPC9","TRMT10A","TTC26","XYLT1","ZBTB18","ZBTB24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_ORBITAL_REGION":{"collection":"C5:HPO","systematicName":"M47029","pmid":"","exactSource":"HP:0000315","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000315","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_ORBITAL_REGION","geneSymbols":["AARS1","AASS","ABAT","ABCA1","ABCA12","ABCA5","ABCC9","ABCG8","ABHD5","ABL1","ACER3","ACOX1","ACSL4","ACTB","ACTG1","ACTL6B","ACVRL1","ADA","ADA2","ADAM17","ADAMTS10","ADAMTS18","ADAMTS2","ADAMTS3","ADAMTSL2","ADAR","ADARB1","ADAT3","ADH5","ADNP","AEBP1","AFF2","AFF3","AFF4","AGO1","AGO2","AGR2","AHDC1","AHI1","AHSG","AIFM1","AIP","AIRE","AKT1","AKT3","ALDH1A2","ALDH1A3","ALDH6A1","ALDOA","ALG12","ALG14","ALG2","ALG3","ALG9","ALOX12B","ALOXE3","ALX1","ALX3","ALX4","AMER1","AMMECR1","AMPD2","ANAPC1","ANGPT2","ANK1","ANKH","ANKLE2","ANKRD11","ANKRD17","ANO10","ANO3","ANTXR1","AP1B1","AP1G1","AP1S1","AP3B1","AP3B2","AP4E1","APC","APC2","APCDD1","APOA1","APOA2","APOB","APOE","APTX","ARCN1","ARHGEF2","ARID1A","ARID1B","ARID2","ARL13B","ARL3","ARL6","ARMC9","ARPC1B","ARV1","ARVCF","ARX","ASAH1","ASH1L","ASPH","ASPM","ASPRV1","ASXL1","ASXL2","ASXL3","ATAD3A","ATM","ATN1","ATP13A2","ATP1A2","ATP1A3","ATP6V0A2","ATP6V1A","ATP6V1B2","ATP6V1E1","ATP7A","ATP9A","ATR","ATRIP","ATRX","AUTS2","AXIN2","B3GAT3","B3GLCT","B4GALT7","B9D1","B9D2","BANF1","BAP1","BAZ1B","BBIP1","BBS1","BBS10","BBS12","BBS2","BBS4","BBS5","BBS7","BBS9","BCAS3","BCL10","BCL11A","BCL11B","BCL7B","BCOR","BCORL1","BCR","BGN","BICRA","BIRC3","BLM","BLNK","BLTP1","BMP1","BMP2","BMP4","BMPER","BMPR1A","BPTF","BRAF","BRAT1","BRCA1","BRCA2","BRD4","BRF1","BRIP1","BRPF1","BTD","BTK","BTNL2","BUB1","BUB1B","BUB3","BUD23","C12orf4","C12orf57","C2CD3","C4A","CACNA1A","CACNA1B","CACNA1C","CACNA1G","CACNA2D1","CAMK2A","CAMK2G","CAMKMT","CAMTA1","CANT1","CARD14","CARS1","CASK","CASZ1","CBL","CBY1","CC2D2A","CCBE1","CCDC115","CCDC22","CCDC32","CCDC47","CCDC8","CCDC88A","CCND1","CCND2","CCNK","CCNQ","CCR1","CD151","CD19","CD28","CD79A","CD79B","CD96","CDC42","CDC42BPB","CDC45","CDCA7","CDH1","CDH11","CDH2","CDH3","CDK10","CDK13","CDK19","CDK5RAP2","CDK6","CDKL5","CDON","CDSN","CELF2","CENPE","CENPJ","CENPT","CEP104","CEP120","CEP135","CEP152","CEP19","CEP290","CEP41","CEP55","CEP57","CEP63","CERS3","CERT1","CFAP418","CHAMP1","CHD1","CHD3","CHD4","CHD5","CHD7","CHD8","CHMP1A","CHN1","CHRNA1","CHRNA7","CHRND","CHRNG","CHST14","CHST3","CHSY1","CHUK","CILK1","CIT","CKAP2L","CLCN1","CLCN3","CLCN4","CLCN6","CLCN7","CLDN1","CLIP2","CLP1","CLTC","CLTCL1","CNKSR2","CNOT1","CNOT2","CNOT3","CNTNAP1","CNTNAP2","COA3","COG1","COG6","COG7","COG8","COL11A1","COL11A2","COL17A1","COL18A1","COL1A1","COL1A2","COL25A1","COL3A1","COL5A1","COL5A2","COL7A1","COL9A3","COLEC10","COLEC11","COMT","COPB1","COPB2","COQ4","COX5A","COX7B","CP","CPLANE1","CPLX1","CR2","CREBBP","CRIPT","CRKL","CRTAP","CSF1R","CSGALNACT1","CSNK2A1","CSPP1","CST6","CTBP1","CTC1","CTCF","CTDP1","CTLA4","CTNND1","CTNND2","CTSA","CTU2","CUL4B","CUL7","CUX1","CWC27","CWF19L1","CYFIP2","CYP27A1","CYP4F22","DACT1","DALRD3","DCAF17","DCHS1","DCLRE1C","DDB1","DDB2","DDC","DDHD2","DDR2","DDX11","DDX3X","DDX59","DDX6","DEAF1","DENND5A","DGCR2","DGCR6","DGCR8","DHCR24","DHCR7","DHDDS","DHODH","DHX16","DHX30","DIS3L2","DKC1","DLG3","DLK1","DLST","DLX4","DMXL2","DNA2","DNAJC21","DNAJC30","DNASE1L3","DNM1","DNMT3A","DNMT3B","DOCK3","DOCK6","DOCK7","DOK7","DOLK","DONSON","DPF2","DPH1","DPH2","DPH5","DPM1","DPP9","DPYD","DPYSL5","DRD5","DSC3","DSE","DSG4","DSP","DUX4","DUX4L1","DVL1","DVL3","DYNC1H1","DYNC1I2","DYNC2H1","DYNC2I1","DYNC2I2","DYNC2LI1","DYRK1A","EBF3","EBP","ECEL1","EDA","EDA2R","EDAR","EDARADD","EDEM3","EDN1","EDN3","EDNRA","EDNRB","EED","EEF1A2","EFEMP2","EFNB1","EFTUD2","EGFR","EHMT1","EIF2AK3","EIF4H","EIF5A","ELN","EMC10","ENG","EP300","EPG5","EPHX2","EPS8L3","ERAP1","ERCC1","ERCC2","ERCC3","ERCC4","ERCC5","ERCC6","ERCC8","ERF","ERLIN2","ERMARD","ESCO2","ESS2","ETFA","ETFB","ETFDH","EXOC2","EXOC8","EXOSC1","EXOSC2","EXOSC9","EXT1","EXT2","EYA1","EZH2","FAM111B","FAM149B1","FAM20C","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FAR1","FAS","FAT4","FBLN5","FBN1","FBXL4","FBXO11","FBXO28","FBXO31","FDFT1","FERMT1","FGD1","FGF10","FGF12","FGF13","FGF20","FGF3","FGF5","FGFR1","FGFR2","FGFR3","FGFRL1","FH","FHL1","FIBP","FIG4","FKBP14","FKBP6","FLCN","FLI1","FLII","FLNA","FLNB","FLT4","FOCAD","FOXC1","FOXC2","FOXG1","FOXL2","FOXP1","FOXP2","FRA10AC1","FRAS1","FREM1","FREM2","FRG1","FRMD4A","FTL","FTSJ1","FUCA1","FZD2","FZR1","G6PC1","GABBR2","GABRA2","GABRA3","GABRA5","GABRB2","GABRD","GABRG2","GAD1","GALNT2","GALNT3","GATA1","GATA2","GATA4","GATAD2B","GBA1","GDF11","GDF2","GFRA1","GHR","GJA1","GJA5","GJA8","GJB2","GJB6","GJC2","GLA","GLE1","GLI3","GLIS3","GMNN","GNAQ","GNAS","GNB2","GNE","GNPTAB","GNS","GON7","GORAB","GP1BB","GPC3","GPC4","GPC6","GPKOW","GPR101","GPRASP2","GPT2","GREB1L","GRIA1","GRIA3","GRIN2D","GRIP1","GSC","GSN","GTF2E2","GTF2H5","GTF2I","GTF2IRD1","GTF2IRD2","GTPBP2","GUSB","H1-4","H3-3A","H4C11","H4C3","H4C5","H4C9","HBA1","HBA2","HBB","HCCS","HCN1","HDAC4","HDAC8","HEATR3","HECTD4","HECW2","HELLS","HEPHL1","HERC1","HERC2","HGSNAT","HHAT","HIBCH","HIC1","HID1","HIRA","HIVEP2","HK1","HLA-B","HLA-DRB1","HLCS","HMGA2","HMOX1","HMX1","HNRNPH1","HNRNPH2","HNRNPK","HNRNPR","HNRNPU","HOXB1","HOXC13","HPCA","HPDL","HR","HRAS","HRURF","HS2ST1","HS6ST2","HSD17B4","HSPA9","HSPG2","HUWE1","HYLS1","HYMAI","IARS2","ICOS","IDH1","IDUA","IFIH1","IFNG","IFNGR1","IFT122","IFT140","IFT172","IFT27","IFT43","IFT52","IFT57","IFT74","IFT80","IGBP1","IGF1R","IGHM","IGLL1","IGSF3","IKZF1","IL10","IL11RA","IL12A","IL12A-AS1","IL1RAPL1","IL23R","IL2RG","IL6ST","IL7R","INPP5E","INPPL1","INTS1","IPO8","IQSEC2","IRF6","IRX5","ITGA3","ITGA6","ITGA8","ITGB4","ITGB6","JAG1","JARID2","JMJD1C","JUP","KANK2","KANSL1","KAT5","KAT6A","KAT6B","KAT8","KATNB1","KATNIP","KCNA2","KCNAB2","KCNB1","KCNE5","KCNH1","KCNJ2","KCNJ5","KCNJ6","KCNJ8","KCNK4","KCNK9","KCNMA1","KCNN3","KCTD1","KCTD17","KDF1","KDM1A","KDM4B","KDM5B","KDM5C","KDM6A","KDM6B","KIAA0586","KIAA0753","KIF11","KIF14","KIF15","KIF1A","KIF1B","KIF21A","KIF26A","KIF7","KIFBP","KIT","KITLG","KLF13","KLLN","KLRC4","KMT2A","KMT2B","KMT2C","KMT2D","KMT2E","KMT5B","KNL1","KNSTRN","KPTN","KRAS","KREMEN1","KRT1","KRT10","KRT14","KRT17","KRT25","KRT4","KRT71","KRT74","KRT81","KRT83","KRT85","KRT86","LAMA3","LARP7","LAS1L","LBR","LDHD","LDLR","LEMD2","LEMD3","LETM1","LIFR","LIG1","LIG3","LIG4","LIMK1","LIPH","LIPN","LMBRD1","LMBRD2","LMNA","LMNB1","LMX1B","LONP1","LPAR6","LPL","LRBA","LRP1","LRP2","LRP4","LRPPRC","LRRC8A","LSM11","LSS","LTBP1","LTBP3","LTV1","LUZP1","LZTFL1","LZTR1","MAB21L1","MAB21L2","MACF1","MAD2L2","MADD","MAF","MAFB","MAGEL2","MALT1","MAN1B1","MAN2B1","MAN2C1","MANBA","MAP1B","MAP2K1","MAP2K2","MAP3K7","MAPK1","MAPK8IP3","MAPKAPK5","MAPRE2","MAPT","MARS1","MASP1","MATR3","MAX","MBD5","MBTPS2","MC1R","MCM7","MCPH1","MCTP2","MDH2","MECP2","MECR","MED12","MED12L","MED13","MED13L","MED25","MED27","MEF2C","MEFV","MEG3","MEGF8","MEIS2","MESD","METTL27","METTL5","MFSD2A","MGAT2","MICU1","MID1","MINPP1","MITF","MKKS","MKRN3","MKS1","MLPH","MLXIPL","MMP1","MMP14","MMP2","MMP23B","MN1","MOGS","MPC1","MPDZ","MPLKIP","MRAS","MRPL12","MRPS2","MSH6","MSL3","MSMO1","MTHFS","MTOR","MTSS2","MTTP","MTX2","MUSK","MVK","MYCN","MYH3","MYL11","MYMK","MYMX","MYO5A","MYOD1","NAA10","NAA20","NAGA","NAGLU","NALCN","NANS","NARS1","NBAS","NBN","NCAPD3","NCAPG2","NCDN","NCF1","NDN","NDST1","NDUFB11","NDUFS4","NECAP1","NECTIN1","NECTIN4","NEK1","NEK9","NELFA","NEPRO","NEXMIF","NF1","NF2","NFIA","NFIB","NFIX","NGLY1","NHP2","NIPAL4","NIPBL","NLRP1","NLRP3","NMNAT1","NOD2","NOG","NONO","NOP10","NOTCH2","NOTCH3","NOVA2","NPAP1","NPHP1","NPM1","NR2F1","NRAS","NRCAM","NSD1","NSD2","NSDHL","NSRP1","NSUN2","NTRK2","NUAK2","NUDT2","NUP188","NUP37","NUP85","NUS1","NXN","OBSL1","OCA2","OCRL","ODC1","OFD1","OGDHL","OGT","ORC1","ORC6","OSGEP","OTUD5","OTUD6B","OTX2","P4HB","PACS1","PACS2","PAFAH1B1","PAH","PAK2","PAK3","PALB2","PANK2","PARK7","PARN","PARS2","PAX1","PAX2","PAX3","PBX1","PCDHGC4","PCGF2","PCLO","PCNA","PCNT","PCSK9","PDCD6IP","PDE11A","PDE4D","PDE6D","PDGFRB","PDHX","PDPN","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PEX7","PGAP1","PGAP2","PGAP3","PGM2L1","PGM3","PHC1","PHF21A","PHF6","PHF8","PHGDH","PHIP","PHOX2A","PHOX2B","PI4KA","PIBF1","PIEZO1","PIEZO2","PIGA","PIGB","PIGG","PIGK","PIGL","PIGN","PIGO","PIGQ","PIGS","PIGT","PIGU","PIGV","PIGW","PIGY","PIK3C2A","PIK3CA","PIK3CD","PIK3R1","PIK3R2","PITX1","PITX2","PKDCC","PKHD1","PKP1","PLA2G6","PLAGL1","PLCD1","PLEC","PLG","PLK4","PLOD1","PLOD3","PLPBP","PLXNA1","PLXND1","PMM2","PNPLA1","PNPLA6","POGZ","POLA1","POLG","POLH","POLR1A","POLR1B","POLR1C","POLR1D","POLR3A","POLR3GL","POLRMT","POU3F3","POU4F1","PPM1B","PPP1CB","PPP1R12A","PPP1R15B","PPP1R17","PPP1R21","PPP2CA","PPP2R1A","PPP2R3C","PPP2R5D","PPP3CA","PQBP1","PRDM13","PRDM16","PREPL","PRIM1","PRKAR1A","PRKAR1B","PRKCZ","PRKD1","PRKG2","PRMT7","PRORP","PRPS1","PRR12","PRRX1","PSAT1","PSMB4","PSMB8","PSMB9","PSMC1","PSMC3","PSMD12","PSPH","PTCH1","PTCH2","PTDSS1","PTEN","PTH1R","PTPN11","PTPN22","PTPRF","PUF60","PURA","PUS1","PUS7","PWAR1","PWRN1","PYCR1","PYCR2","QARS1","QRICH1","RAB11B","RAB18","RAB23","RAB3GAP2","RAC1","RAC3","RAD21","RAD51","RAD51C","RAF1","RAG1","RAG2","RAI1","RALA","RALGAPA1","RAPSN","RASA2","RAX","RB1","RBBP8","RBL2","RBM10","RBMX","RBPJ","RDH11","RECQL","RECQL4","RERE","RET","REV3L","RFC2","RFWD3","RFX7","RHOA","RHOBTB2","RIC1","RIN2","RIPK4","RIT1","RLIM","RMRP","RNASEH2A","RNASEH2B","RNASEH2C","RNF113A","RNF125","RNF135","RNF168","RNF2","RNU12","RNU4ATAC","RNU7-1","ROBO1","ROR2","RPGRIP1L","RPL10","RPL11","RPL15","RPL18","RPL21","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS23","RPS24","RPS26","RPS27","RPS28","RPS29","RPS6KA3","RPS7","RRAS","RRAS2","RREB1","RRM2B","RSPRY1","RTEL1","RTL1","RTTN","RUSC2","RYR1","RYR3","SALL1","SALL4","SAMD9","SAMHD1","SARS1","SASH1","SASS6","SATB1","SATB2","SC5D","SCAPER","SCARF2","SCLT1","SCN3A","SCN4A","SCN8A","SCN9A","SCNM1","SDCCAG8","SDHA","SDHAF2","SDHB","SDHC","SDHD","SDR9C7","SEC23B","SEC24C","SEC24D","SEC31A","SEMA3E","SEMA5A","SEPTIN9","SERPINH1","SET","SETBP1","SETD1A","SETD1B","SETD2","SETD5","SETX","SF3B2","SF3B4","SGSH","SH3BP2","SH3PXD2B","SHANK3","SHMT2","SHOC2","SHPK","SHROOM4","SIAH1","SIM1","SIN3A","SIX1","SIX2","SIX5","SKI","SKIC3","SLC13A5","SLC17A5","SLC19A3","SLC1A2","SLC1A3","SLC1A4","SLC25A11","SLC25A24","SLC26A2","SLC29A3","SLC2A10","SLC30A9","SLC35A2","SLC35C1","SLC37A4","SLC38A3","SLC39A13","SLC39A4","SLC39A7","SLC3A1","SLC45A1","SLC6A17","SLC6A9","SLC9A6","SLC9A7","SLCO1B1","SLCO1B3","SLF2","SLX4","SMAD4","SMARCA2","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SMC1A","SMC3","SMC5","SMCHD1","SMO","SMOC1","SMPD4","SMS","SNAI2","SNAP29","SNORD115-1","SNORD116-1","SNRPB","SNRPE","SNRPN","SNX14","SON","SOS1","SOS2","SOX10","SOX11","SOX18","SOX4","SOX5","SOX6","SOX9","SPART","SPATA5","SPATA5L1","SPECC1L","SPEN","SPI1","SPINK5","SPOP","SPRED1","SPRED2","SPTBN1","SRCAP","SREBF1","SRY","ST14","STAC3","STAG1","STAG2","STARD7","STAT4","STEEP1","STIL","STRA6","STRADA","STT3A","STX11","STX16","STX1A","STXBP1","SUFU","SULT2B1","SUMF1","SUPT16H","SUZ12","SVBP","SYNGAP1","SYNJ1","SYT1","SZT2","TACSTD2","TAF1","TAF13","TAF6","TALDO1","TAPT1","TARS1","TASP1","TBC1D24","TBC1D2B","TBCD","TBCK","TBL1XR1","TBL2","TBP","TBR1","TBX1","TBX15","TBX2","TBX22","TBX3","TBX4","TBX6","TCF20","TCF3","TCF4","TCOF1","TCTN1","TCTN2","TCTN3","TELO2","TENM3","TENT5A","TERC","TERT","TET3","TFAP2A","TFAP2B","TFE3","TFRC","TGDS","TGFB2","TGFB3","TGFBI","TGM1","THAP1","THOC6","THUMPD1","TIMM50","TINF2","TKT","TLK2","TLR4","TMCO1","TMEM107","TMEM127","TMEM138","TMEM147","TMEM216","TMEM218","TMEM231","TMEM237","TMEM270","TMEM53","TMEM67","TMEM94","TNFRSF13B","TNFRSF13C","TNFRSF1A","TNFRSF1B","TNNI2","TNRC6B","TOE1","TOGARAM1","TONSL","TOPORS","TOR1A","TP63","TPRKB","TRAF3IP2","TRAF7","TRAIP","TRAK1","TRAPPC10","TRAPPC14","TRAPPC9","TREX1","TRIM32","TRIM8","TRIO","TRIP12","TRIP13","TRMT1","TRMT10A","TRPM3","TRPS1","TRRAP","TSC1","TSC2","TSPEAR","TSR2","TTC26","TTC5","TTC7A","TTC8","TTI2","TTPA","TUBA1A","TUBB","TUBB2B","TUBB3","TUBB4A","TUBGCP2","TUBGCP4","TUBGCP6","TWIST1","TWIST2","TXNL4A","TYMP","TYMS","TYR","TYRP1","UBA5","UBAC2","UBE2A","UBE2T","UBE3A","UBE3B","UBE4B","UBR1","UBR7","UFC1","UFD1","UGDH","UGP2","UMPS","UNC80","UQCC2","UROD","UROS","USB1","USF3","USP9X","VAC14","VAMP1","VARS1","VDR","VHL","VPS13A","VPS13B","VPS33A","VPS35L","VPS37D","VPS51","VPS53","WAC","WARS1","WAS","WASF1","WASHC4","WASHC5","WDPCP","WDR19","WDR26","WDR35","WDR37","WDR4","WDR62","WDR73","WIPF1","WLS","WNT10A","WNT10B","WNT4","WNT5A","WNT7A","WNT9B","WRAP53","WT1","WWOX","XPA","XPC","XPNPEP2","XRCC2","XRCC4","XYLT1","XYLT2","YARS1","YARS2","YWHAE","YWHAG","YY1","ZBTB18","ZBTB20","ZBTB24","ZC4H2","ZEB2","ZFHX4","ZIC1","ZIC2","ZMIZ1","ZMPSTE24","ZMYM2","ZMYND11","ZNF148","ZNF292","ZNF407","ZNF423","ZNF462","ZNF469","ZNF526","ZNF699","ZNF711","ZNHIT3","ZPR1","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPERTELORISM":{"collection":"C5:HPO","systematicName":"M34663","pmid":"","exactSource":"HP:0000316","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000316","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERTELORISM","geneSymbols":["AARS1","ABCD4","ACOX1","ACTA1","ACTA2","ACTB","ACTG1","ACTL6B","ACY1","ADA2","ADAMTS3","ADAT3","ADGRG6","ADK","ADNP","AFF3","AFF4","AGA","AHDC1","AIFM1","AKT1","AKT3","ALDH18A1","ALDH6A1","ALG1","ALG13","ALG6","ALG8","ALG9","ALX1","ALX3","ALX4","AMER1","ANAPC7","ANK1","ANKH","ANKRD11","ANTXR1","AP1G1","AP4S1","APC","ARID1B","ARVCF","ASH1L","ASNS","ASXL1","ASXL2","ASXL3","ATP6V0A2","ATP6V1A","ATP6V1B2","ATP6V1E1","ATRX","AUTS2","AVP","B3GAT3","B3GLCT","B4GALT1","B4GALT7","B9D1","B9D2","BBS7","BCAS3","BCL11B","BCORL1","BGN","BICRA","BLNK","BLTP1","BMP2","BMPER","BMPR1A","BNC2","BPTF","BRAF","BRCA1","BRCA2","BRCC3","BRIP1","BRPF1","BUB1B","C12orf57","CACNA1G","CAMTA1","CARS1","CASK","CBL","CC2D2A","CCBE1","CCDC22","CCDC32","CCDC47","CCND2","CCNK","CD79A","CD79B","CDC42","CDC42BPB","CDCA7","CDH1","CDH11","CDH2","CDK10","CDK13","CDK19","CENPF","CENPJ","CEP120","CEP290","CHD3","CHD4","CHD7","CHD8","CHRNA1","CHRNA7","CHRND","CHRNG","CHST14","CHST3","CHSY1","CIT","CLCN3","CLCN6","CLCN7","CNOT3","CNTN1","CNTNAP2","COG1","COL11A1","COL11A2","COL1A1","COL1A2","COL25A1","COL27A1","COL2A1","COL3A1","COLEC10","COLEC11","COMT","COX7B","CPLANE1","CPLX1","CREBBP","CSNK2A1","CSPP1","CTBP1","CTCF","CTNND1","CTNND2","CTU2","DCHS1","DDR2","DDX3X","DDX59","DDX6","DEAF1","DEF6","DHCR7","DHX37","DICER1","DLX4","DNAJC21","DNMT3A","DNMT3B","DOCK6","DOK7","DPF2","DPH1","DPH2","DPM1","DPYD","DPYSL5","DSE","DUSP6","DVL1","DVL3","EBF3","EBP","EDEM3","EED","EFEMP2","EFNB1","EHMT1","EIF2AK3","EIF5A","ELN","EMC1","EP300","EPB41L1","EPG5","ERCC2","ERCC3","ERCC4","ERF","ERGIC1","ERMARD","ESCO2","EXOC2","EXOSC9","EXT2","EXTL3","EZH2","FAM111A","FAM149B1","FAM20C","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FAR1","FAT4","FBN1","FBXO11","FBXO31","FGD1","FGF17","FGF20","FGF3","FGF8","FGFR1","FGFR2","FGFR3","FGFRL1","FH","FIBP","FIG4","FLCN","FLI1","FLII","FLNA","FLNB","FOXC1","FOXE3","FOXF1","FOXG1","FOXP1","FOXP2","FRA10AC1","FRAS1","FREM1","FREM2","FUCA1","FZD2","GAD1","GALNT2","GATA1","GATA6","GATAD2B","GBA1","GFRA1","GJA1","GJA5","GJA8","GK","GLB1","GLE1","GLI3","GNE","GNPTAB","GNRH1","GNRHR","GNS","GON7","GORAB","GP1BB","GPAA1","GPC3","GPC4","GREB1L","GRIP1","GTF2E2","GTF2H5","H3-3A","H4C11","H4C3","H4C9","HACE1","HBA1","HBA2","HDAC4","HDAC8","HEATR3","HECTD4","HELLS","HEPACAM","HERC1","HEY2","HID1","HIRA","HIVEP2","HMGA2","HNRNPH2","HNRNPU","HPDL","HRAS","HS2ST1","HS6ST1","HSD17B4","HSPG2","HUWE1","IDUA","IFT140","IFT43","IGHM","IGLL1","IL11RA","IL1RAPL1","IL6ST","INPPL1","INSR","INTS1","INTS8","INTU","IPO8","IQSEC2","IRX5","ITCH","ITGA3","ITGA8","JAG1","JARID2","JMJD1C","KAT6B","KATNB1","KATNIP","KBTBD13","KCNH1","KCNJ2","KCNJ5","KCNMA1","KCNN3","KDM1A","KIAA0586","KIAA0753","KIF15","KIF21A","KIF7","KIFBP","KISS1","KISS1R","KLF13","KLHL41","KMT2A","KMT2D","KNL1","KNSTRN","KPTN","KRAS","KREMEN1","LAGE3","LBR","LEMD3","LETM1","LIG4","LMBR1","LMNA","LMNB1","LOX","LRP2","LRP4","LRP5","LRPPRC","LRRC8A","LTBP4","LZTR1","MACF1","MAD2L2","MAF","MAN1B1","MAN2B1","MAN2C1","MAP2K1","MAP2K2","MAP3K7","MAPK1","MAPK8IP3","MAPRE2","MARS1","MARS2","MASP1","MAT2A","MBD5","MCTP2","MED12","MED12L","MED13","MED13L","MED25","MED27","MEF2C","MEGF8","MFAP5","MGAT2","MICU1","MID1","MKS1","MMP2","MN1","MOCS1","MOCS2","MPLKIP","MRAS","MRPS14","MTOR","MUSK","MYH11","MYH3","MYLK","MYOD1","MYPN","NAA10","NALCN","NARS1","NBAS","NCDN","NDE1","NEB","NEDD4L","NELFA","NF1","NFASC","NFIX","NGLY1","NHLH2","NKX2-5","NKX2-6","NKX3-2","NONO","NOTCH2","NOTCH3","NRAS","NRCAM","NSD1","NSD2","NSMCE3","NSMF","NSRP1","NSUN2","NUP107","NUP133","NUP88","NXN","ODC1","OFD1","OGT","OSGEP","OTUD5","PACS1","PACS2","PAFAH1B1","PAICS","PALB2","PARS2","PAX3","PDE4D","PDE6D","PDGFRB","PDHX","PDZD8","PEPD","PEX1","PEX2","PEX3","PEX5","PEX6","PGAP2","PGAP3","PHACTR1","PHGDH","PHIP","PIEZO2","PIGA","PIGB","PIGG","PIGL","PIGN","PIGO","PIGV","PIGW","PIGY","PIK3CA","PIK3CD","PIK3R1","PIK3R2","PITX1","PITX2","PLCB3","PLP1","PMM2","POC1A","POGZ","POLR1A","POLR1B","POLR1C","POLR1D","POLR2A","POLR3A","POR","PPP1CB","PPP1R12A","PPP1R21","PPP2CA","PPP2R1A","PPP2R5D","PPP3CA","PRDM13","PRKACB","PRKAR1A","PRKG1","PRMT7","PROK2","PROKR2","PRORP","PRPS1","PSAT1","PSMD12","PTCH1","PTCH2","PTDSS1","PTEN","PTH1R","PTPN11","PTRH2","PUS1","PYCR1","PYCR2","QRICH1","RAC3","RAD21","RAD51","RAD51C","RAF1","RAI1","RAPSN","RASA2","RB1","RBL2","RBM10","RECQL4","RELN","RERE","RET","RFWD3","RIPK4","RIT1","RLIM","RMRP","RNF113A","RNF2","RNU4ATAC","ROR2","RPGRIP1","RPGRIP1L","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS6KA3","RPS7","RRAS","RRAS2","RREB1","RSPO2","RSPRY1","RSRC1","RUNX2","RUSC2","RYR1","SALL4","SCN1A","SCNM1","SCYL2","SEC23A","SEC24C","SEC24D","SEMA3E","SEMA5A","SET","SETBP1","SETD1A","SETD2","SH2B1","SH3PXD2B","SHANK3","SHOC2","SIAH1","SIK3","SIN3A","SIX2","SKI","SKIC2","SKIC3","SLC12A6","SLC18A3","SLC1A4","SLC25A12","SLC25A24","SLC26A2","SLC29A3","SLC2A10","SLC35C1","SLC37A4","SLC39A13","SLC39A7","SLC45A1","SLX4","SMAD2","SMAD3","SMAD4","SMARCA2","SMARCD1","SMCHD1","SMG9","SMO","SMS","SNAP29","SNRPN","SOS1","SOS2","SOST","SOX6","SOX9","SPART","SPECC1L","SPEN","SPI1","SPINT2","SPOP","SPRED1","SPRED2","SPRY4","SPTBN1","SRD5A3","STAMBP","STAT3","STRADA","SUFU","SUPT16H","SUZ12","TAC3","TACR3","TAF1","TAOK1","TAPT1","TARS1","TASP1","TBC1D24","TBCD","TBCE","TBL1XR1","TBR1","TBX1","TBX15","TBX2","TBX4","TCF12","TCF3","TCIRG1","TCOF1","TCTN1","TCTN2","TCTN3","TDO2","TELO2","TENM3","TFAP2A","TFAP2B","TFE3","TGDS","TGFB2","TGFB3","TGFBR1","TGFBR2","THOC2","THRA","THSD1","THSD4","THUMPD1","TLK2","TMCO1","TMEM107","TMEM138","TMEM147","TMEM216","TMEM231","TMEM237","TMEM53","TMEM67","TMEM94","TNFRSF11A","TOGARAM1","TONSL","TOPORS","TP53RK","TPM2","TPM3","TPRKB","TRAPPC9","TRIM37","TRIO","TRIP12","TRIP4","TRRAP","TSR2","TTC26","TTC7A","TUBA1A","TUBB","TWIST1","TWIST2","TXNDC15","TXNL4A","UBE2A","UBE2T","UBE3B","UBR7","UFC1","UFD1","UMPS","USB1","VAC14","VPS35L","VPS51","VSX1","WAC","WARS2","WASHC5","WDPCP","WDR11","WDR35","WDR37","WDR4","WDR73","WNT5A","WNT9B","XRCC2","XYLT2","YRDC","YWHAE","ZBTB18","ZBTB20","ZBTB24","ZEB2","ZIC1","ZIC2","ZIC3","ZMIZ1","ZMPSTE24","ZMYM2","ZMYND11","ZNF292","ZNF526","ZNF699","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FACIAL_MYOKYMIA":{"collection":"C5:HPO","systematicName":"M34664","pmid":"","exactSource":"HP:0000317","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000317","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FACIAL_MYOKYMIA","geneSymbols":["ABCD1","ADCY5","ATP13A2","LGI3","PNPT1","PPP2R2B","PRKCG","SPTBN2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SMOOTH_PHILTRUM":{"collection":"C5:HPO","systematicName":"M34665","pmid":"","exactSource":"HP:0000319","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000319","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SMOOTH_PHILTRUM","geneSymbols":["AASS","ABL1","ACER3","ADAMTSL2","ADNP","ADSL","AFF3","ALG9","ANKRD11","ANKRD17","AP3B1","AP3D1","ASH1L","ATG7","ATP6V0A2","ATP6V1A","ATP6V1E1","ATP9A","BCR","CANT1","CASK","CCBE1","CD96","CDC42","CDC42BPB","CDH2","CDK10","CDK13","CERT1","CLIC2","COG1","COG7","COL3A1","CREBBP","CRKL","CSNK2B","CTNNB1","DDX6","DHPS","DHX30","DIS3L2","DPM1","DYRK1A","EBF3","EBP","EP300","EXOC2","EXOSC1","FAR1","FBN1","FLCN","FLI1","FLNA","FOXG1","FRA10AC1","GAD1","GJA5","GJA8","GNE","GOLGA2","H3-3A","H4C5","HNRNPU","HOXB1","IFIH1","IFT140","IGF1R","IRX5","JARID2","KDM5B","KDM5C","KIF15","KIF26A","KIF7","LEMD2","MAB21L1","MAF","MAN1B1","MAPK1","MARS2","MED12","MED13","MEIS2","MID1","MKS1","MMACHC","MSL3","MTOR","MYOD1","NALCN","NOTCH3","NSUN2","NUP107","ORC4","PACS1","PAX3","PGM2L1","PIGB","PIGN","PIGQ","PIGU","PIK3CA","PKDCC","PLAA","POLR3A","POLR3GL","PPP1CB","PPP2R3C","PRDX1","PRIM1","PTPRF","PUF60","PUS7","PYCR2","QRICH1","RAD21","RAI1","RECQL","RERE","RHOBTB2","RPL10","RTTN","SATB1","SATB2","SEC23A","SETD5","SIN3A","SLC25A24","SLC45A1","SMARCA2","SMC1A","SMC3","SMG8","SMPD4","SMS","SON","SPOP","SPTBN1","STAG2","STEEP1","SUMF1","SYT1","TASP1","TBL1XR1","TBX1","TGFB3","THOC6","THSD1","THUMPD1","TMEM147","TMEM94","TPR","TRAPPC9","TRIM8","TRIP12","TRPS1","TRRAP","TUBGCP2","UBE3B","UGDH","UNC80","USP9X","WDR19","WDR35","WDR37","ZBTB18","ZC4H2","ZMIZ1","ZNF148","ZNF292","ZNF699","ZPR1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BIRD_LIKE_FACIES":{"collection":"C5:HPO","systematicName":"M34666","pmid":"","exactSource":"HP:0000320","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000320","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BIRD_LIKE_FACIES","geneSymbols":["AARS1","CARS1","ERCC2","ERCC3","GTF2E2","GTF2H5","LIG4","LMNA","MPLKIP","NHEJ1","POLD1","RAD50","RNF113A","TARS1","WNT10A","WRN","XRCC4","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SQUARE_FACE":{"collection":"C5:HPO","systematicName":"M34667","pmid":"","exactSource":"HP:0000321","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000321","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SQUARE_FACE","geneSymbols":["ADAMTSL1","CHD7","CREBBP","EP300","IFT57","KDM5B","LIFR","OSTM1","PUF60","SETD1B","WAC"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SHORT_PHILTRUM":{"collection":"C5:HPO","systematicName":"M34668","pmid":"","exactSource":"HP:0000322","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000322","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_PHILTRUM","geneSymbols":["ADAMTS3","ADAMTSL1","AFF3","ALDH6A1","ALG12","ALX4","ANKRD17","AP1S2","AP4B1","AP4E1","AP4M1","AP4S1","APC","ARID1A","ARID1B","ARID2","ARVCF","ASH1L","AUTS2","BCAS3","BCL11B","BPTF","BRPF1","CCBE1","CCDC22","CDC42","CDC42BPB","CDH11","CDH2","CDK13","CDON","CHAMP1","CHD5","CKAP2L","CLCN3","CNOT3","COL3A1","COMT","CPLX1","CREBBP","CTBP1","CTCF","CUL4B","DEAF1","DENND5A","DHX37","DISP1","DLK1","DLL1","DOCK7","DPF2","DPYSL5","DVL1","DVL3","EDEM3","EMC1","EPB41L1","ERCC1","ERLIN2","EXT2","FAT4","FGF8","FGFR1","FGFRL1","FIG4","FLII","FOXH1","FOXL2","FREM1","FZD2","GALNT2","GAS1","GATAD2B","GLI2","GMPPA","GNB1","GP1BB","GRIA3","GRIA4","H4C11","H4C5","H4C9","HDAC6","HECTD4","HIRA","HIVEP2","HNRNPH2","HOXB1","HUWE1","IFT57","IQSEC2","IREB2","ITCH","JARID2","JMJD1C","KAT6A","KCNH1","KCNJ6","KCNK4","KCNK9","KDF1","KDM4B","KIDINS220","KIF26A","KIF7","KIFBP","LARP7","LETM1","LRP4","LRRC32","MADD","MAN1B1","MAP3K7","MAPK8IP3","MCTP2","MED12","MED12L","MED25","MEF2C","MEG3","MEIS2","MID2","MTX2","NAA10","NALCN","NELFA","NEXMIF","NFIX","NKAP","NODAL","NOG","NONO","NSD2","NSRP1","NSUN2","NXN","OPHN1","PARS2","PCDHGC4","PDE4D","PGAP2","PGAP3","PHF21A","PHIP","PIGG","PIGL","PIGO","PIGV","PIGW","PIGY","PITX2","POGZ","POLR3A","PPP1R15B","PPP2CA","PPP3CA","PQBP1","PRKACA","PRKACB","PSMC3","PSMD12","PTCH1","PTH1R","PUS7","RAB18","RAB3GAP1","RAB3GAP2","RAI1","RALA","RNF2","RNU4ATAC","ROR2","RREB1","RTL1","RUNX2","SATB2","SCN4A","SEC24C","SETBP1","SH3PXD2B","SHH","SHMT2","SIN3A","SIX3","SLC35A1","SLC35A2","SMAD4","SMARCA2","SMARCA4","SMARCE1","SMC1A","SMPD4","SMS","SON","SOX11","SPEN","SPTBN1","SRCAP","STAG2","STIM1","SUFU","TAB2","TALDO1","TAOK1","TBC1D20","TBR1","TBX1","TCF3","TCF4","TCTN3","TDGF1","TFAP2B","TGIF1","TMEM237","TMEM70","TMEM94","TMLHE","TNPO2","TRAPPC9","TRIO","TRIP12","TRMT10A","TRPM3","TRRAP","TSPAN7","TTC5","TWIST1","TWIST2","TXNL4A","UBE3B","UFD1","UNC80","UPF3B","VAC14","VPS13B","VPS51","WDR4","WLS","WNT4","WNT5A","ZBTB18","ZDHHC9","ZEB2","ZIC2","ZNF292"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FACIAL_ASYMMETRY":{"collection":"C5:HPO","systematicName":"M34669","pmid":"","exactSource":"HP:0000324","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000324","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FACIAL_ASYMMETRY","geneSymbols":["ADAT3","AKT1","AKT2","ANOS1","ASPH","ATR","BCR","BMP4","BRCA1","BRCA2","BRIP1","CDH11","CDK13","CEP152","CEP85L","CHD7","CHN1","CHRNG","CHST14","CLTCL1","COL1A1","COL2A1","CPLX1","CRKL","CTBP1","CTNND1","DACT1","DDX59","DHX37","EBP","EDN1","EDNRA","EFNB1","ELMO2","ELOVL4","ERCC4","EYA1","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FGF9","FGFR2","FGFR3","FGFRL1","FLI1","FLNA","FN1","FRAS1","GDF3","GDF5","GDF6","GNAI3","GNAS","GUSB","H19","HRAS","IGF2","KAT6A","KCNJ2","KCNJ5","KCNQ1OT1","KDM4B","KMT2A","KMT2D","KRAS","LETM1","LRP4","MACF1","MAD2L2","MAF","MAFB","MAN2C1","MAPK1","MEOX1","MYCN","MYH3","MYH8","NBAS","NF1","NFIX","NOG","NRAS","NSD2","NTRK2","OFD1","PALB2","PAX1","PIEZO2","PIGN","PIK3CA","PKD2","PLCB4","POLR1B","PORCN","PPP2R1A","PPP2R5D","PSMD12","PTEN","PUF60","PURA","RAD51","RAD51C","RFWD3","RFX7","RHOA","SALL1","SALL4","SATB2","SEMA3E","SEPTIN9","SET","SF3B2","SIN3A","SIX1","SIX5","SLC12A6","SLC37A4","SLX4","SMC1A","SMC3","SMO","SMS","SON","SOX5","SP7","TRIO","TRPM3","TWIST1","UBE2T","USP9X","XRCC2","YY1","ZIC1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_TRIANGULAR_FACE":{"collection":"C5:HPO","systematicName":"M34670","pmid":"","exactSource":"HP:0000325","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000325","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TRIANGULAR_FACE","geneSymbols":["ADGRG6","AGPAT2","ALDH18A1","ALG12","ANKRD11","ANKRD17","AP1S2","ARX","ATP6V1A","ATP6V1E1","B9D1","BMP1","BPTF","BRAF","BSCL2","BSND","BUB1","BUB1B","BUB3","CAV1","CBL","CCDC8","CDC6","CDK10","CDKN1C","CEP57","CLCNKA","CLCNKB","COL1A1","COL1A2","CUL7","DCAF17","EBF3","ELN","EMC10","EPG5","ERCC6","FANCC","FANCI","FBLN5","FBN1","FKBP10","FLCN","FOCAD","FRA10AC1","GBA1","GJA5","GJA8","GMPPA","GRB10","H19","H4C5","HERC1","HMGA2","HS6ST2","HUWE1","IFITM5","IGF1R","IGF2","JAG1","JARID2","KAT6A","KCNJ1","KCNJ2","KCNJ5","KRAS","LARP7","LEMD2","LEMD3","LZTR1","MAFB","MAP2K1","MCTP2","MED12","MED12L","MED13L","MRAS","MTX2","MVK","MYCN","MYH3","MYOD1","NALCN","NECTIN1","NFIX","NONO","NOTCH2","NRAS","NSD1","OBSL1","ORC6","PAPPA2","PAX7","PEX13","PEX14","PEX19","PIEZO2","PIK3R1","PLAG1","PLOD2","POC1A","POLR3A","PPP2R5D","PQBP1","PRKG2","PRPS1","PSMD12","PTF1A","PTPN11","PUS7","PYCR1","PYCR2","RAF1","RAI1","RASA2","RERE","RIT1","RRAS","RRAS2","SCUBE3","SEC24D","SEC31A","SERPINH1","SIN3A","SLC25A24","SLC45A1","SMARCA2","SMARCAL1","SMC1A","SMC5","SOS1","SOS2","SOX6","SPOP","SPRED1","SPRED2","SPRTN","SRCAP","STAG2","SYNGAP1","TALDO1","TAOK1","TBX2","TMEM94","TNNI2","TNNT3","TNRC6B","TRIM37","TRIP13","TRMT5","TRPS1","UNC80","XRCC4","ZMYM2","ZNF148","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_MAXILLA_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M34671","pmid":"","exactSource":"HP:0000326","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000326","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MAXILLA_MORPHOLOGY","geneSymbols":["ABL1","ADAMTS10","AKT1","ALX1","ALX3","AP2M1","ARHGAP29","ARHGEF38","ARSL","ATP6V1E1","B3GLCT","BGN","BMP2","BMP4","CBFB","CDC45","CDC6","CDH1","CDH11","CDT1","CHSY1","COBLL1","COL11A1","COL2A1","COL5A1","COLEC11","CREBBP","CTC1","CTSK","DCHS1","DKC1","DLG1","DLK1","DLX4","EDA","EDNRA","EFEMP2","EFTUD2","EP300","ERF","ESCO2","FAT4","FBN1","FGD1","FGF3","FGFR1","FGFR2","FGFR3","FHL1","FLNB","FOXC1","FOXP2","GJA1","GLI2","GMNN","GORAB","GPC4","GRHL3","HBB","HRAS","IFIH1","IL11RA","IRF6","KCNJ2","KCNJ5","KDM5C","KIFBP","LBR","LTBP3","MAFB","MED12","MEG3","MMP2","MSX1","NECTIN1","NFIX","NHP2","NOP10","NPM1","NRAS","ORC1","ORC4","ORC6","PARN","PAX3","PDE4D","PDGFRA","PDGFRB","PEX19","PIK3CA","PITX2","POLR1A","POLR1B","POLR1C","POLR1D","PQBP1","PRKACA","PRKAR1A","PTCH1","PTEN","PYCR2","RAB23","RAB3GAP2","RECQL","RIC1","RIPK4","RPS6KA3","RTEL1","RTL1","RUNX2","SCARF2","SEC23A","SETD2","SF3B2","SF3B4","SIN3A","SIX3","SKI","SLC12A6","SLC25A24","SMAD4","SMOC1","SNRPN","SOBP","SON","SOX5","SRCAP","STAMBP","TBC1D2B","TCOF1","TERC","TERT","TINF2","TMCO1","TP63","TRMT1","TUBGCP2","TWIST1","TWIST2","TYMS","UBB","UBE3A","UPF3B","USB1","VPS13B","WDR26","WRAP53","ZBTB11","ZBTB20","ZDHHC9","ZNF668"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FACIAL_HEMANGIOMA":{"collection":"C5:HPO","systematicName":"M34672","pmid":"","exactSource":"HP:0000329","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000329","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FACIAL_HEMANGIOMA","geneSymbols":["ASXL1","CCDC22","CD96","DHCR7","DPYSL5","EPHB4","ESCO2","GLI3","GNA14","GNAQ","MGAT2","POR","PPP1CB","RASA1","RBM8A","RECQL4","SETBP1","SLC26A2","SRD5A3","STAC3","TRPM3","VPS35L","WASHC5"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SHORT_CHIN":{"collection":"C5:HPO","systematicName":"M34673","pmid":"","exactSource":"HP:0000331","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000331","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_CHIN","geneSymbols":["ABL1","ADNP","ALDH1A2","ALG13","AP1S2","ARID1B","ASXL3","BMPR1A","CAMK2B","CDK10","COA6","COL9A2","COX7B","CYP26C1","DDR2","DST","EBF3","EDA","ERCC1","ERCC4","ERCC6","ERCC8","FBXO31","FIG4","FLNA","GRB10","H19","IGF2","ITCH","LMNA","MAN1B1","MAP3K7","MBD5","MED12","MEF2C","MTOR","MYOD1","NDUFS4","NFIA","NRCAM","NSD2","NSUN2","PAPPA2","PARS2","PIGS","PIK3R1","PPP1R21","PRKDC","PTEN","PTF1A","RECQL4","RNF13","RNU4ATAC","SCUBE3","SET","SHANK3","SLC26A2","SLF2","SOX11","TRIO","VAC14","XRCC4","ZBTB24","ZMPSTE24","ZNF292"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PROMINENT_SUPRAORBITAL_RIDGES":{"collection":"C5:HPO","systematicName":"M34674","pmid":"","exactSource":"HP:0000336","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000336","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROMINENT_SUPRAORBITAL_RIDGES","geneSymbols":["ABCC9","AGPAT2","AP1G1","ARX","BSCL2","CAV1","CAVIN1","CHD8","COL11A2","EDA","ERCC4","FBXO31","FGFR1","FHL1","FLNA","FOS","FREM1","GRIA3","HDAC8","IDS","JARID2","KCNJ8","LAS1L","LBR","LMBRD2","MAP2K2","MAP3K7","OPHN1","PAK3","PDGFRB","PHF6","PHF8","PIK3R1","PITX2","POLR3A","PPARG","PRR12","PSMC3","PTH1R","RBMX","RPS6KA3","SEC23A","SHANK3","SOST","SP7","SUZ12","TAF1","TOE1","UBE2A","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BROAD_FOREHEAD":{"collection":"C5:HPO","systematicName":"M34675","pmid":"","exactSource":"HP:0000337","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000337","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BROAD_FOREHEAD","geneSymbols":["ABL1","ACTG2","ACTL6B","ADAMTS3","AIP","ALDH18A1","AMMECR1","ANTXR1","B3GAT3","B4GALT7","BAZ1B","BCL7B","BMP1","BMP2","BRAF","BRPF1","BUD23","CAMTA1","CASK","CBL","CCBE1","CCDC22","CCDC8","CCNQ","CDC42BPB","CDH11","CDH2","CDKL5","CHST14","CHST3","CITED2","CKAP2L","CLIP2","COLEC11","CUL7","CUX1","DEAF1","DLK1","DLL3","DNAJC30","DNMT3A","DPH5","DPP9","EBF3","EED","EIF4H","ELN","EMC10","EZH2","FAT4","FBLN5","FBN1","FGD1","FGFR2","FGFR3","FKBP6","FLCN","FLII","FLNA","FLT4","FUT8","GATA4","GATA5","GATA6","GATAD2B","GDF1","GJA5","GPC3","GPC4","GPR101","GTF2I","GTF2IRD1","GTF2IRD2","HBA1","HBA2","HECTD4","HES7","HOXB1","HRAS","IDH1","IFIH1","IGBP1","IQSEC2","JAG1","JARID2","KANSL1","KCNH1","KCNJ2","KCNJ5","KDR","KIF7","KRAS","LFNG","LIMK1","LRP2","LRP5","MADD","MAN2B1","MAP2K1","MBD5","MED13L","MEF2C","MEG3","MESP2","METTL27","MKS1","MLXIPL","NAA10","NALCN","NARS1","NCF1","NF1","NFIA","NFIX","NIPA1","NIPA2","NKX2-5","NKX2-6","NOTCH2","NRAS","NSD1","OBSL1","ODC1","PAK1","PCGF2","PEX3","PIGN","PIGU","PIK3CA","POGZ","POLE","POLR3A","PPM1D","PPP2CA","PRIM1","PRKACB","PSPH","PTDSS1","PTEN","PTPN11","PYCR1","RAI1","RBM8A","RECQL4","RFC2","RIPPLY2","RLIM","RNF135","ROBO1","RPL10","RTL1","RUNX2","RYR3","SATB2","SCNM1","SETBP1","SH2B1","SH3PXD2B","SHOC2","SIM1","SIN3A","SKIC2","SKIC3","SLC25A24","SLC6A8","SMAD2","SPTBN1","STEEP1","STX1A","SUZ12","TAB2","TAFAZZIN","TBC1D7","TBCK","TBL2","TBX1","TCEAL1","TCF12","TCTN2","TENT5A","TET3","TFAP2B","THOC2","THOC6","TMEM270","TRPM3","TTC5","TUBG1","TWIST1","UNC80","VPS37D","WAC","WASHC5","WBP11","YY1","ZBTB20","ZFPM2","ZIC1","ZIC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPOMIMIC_FACE":{"collection":"C5:HPO","systematicName":"M34676","pmid":"","exactSource":"HP:0000338","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000338","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOMIMIC_FACE","geneSymbols":["ATP13A2","ATP1A3","ATP6AP2","CC2D1A","CLTC","CNTNAP1","DDHD2","DNAJC13","DNAJC6","EIF4G1","FBXO7","FTL","GBA1","GIGYF2","JAM2","KCNK9","LRRK2","MYMX","OGDHL","PLA2G6","PLAA","PODXL","POLG","POLG2","PRDX3","RRM2B","SLC18A2","SLC25A4","SLC30A10","SLC39A14","SLC6A3","SNCA","SPR","SYNJ1","TECPR2","TWNK","TXNL4A","VPS35"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SLOPING_FOREHEAD":{"collection":"C5:HPO","systematicName":"M34677","pmid":"","exactSource":"HP:0000340","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000340","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SLOPING_FOREHEAD","geneSymbols":["ACER3","ADAT3","ANKLE2","ARX","ASNS","ASPM","ASXL3","ATR","B9D1","B9D2","BRCA1","BRCA2","BRIP1","BUB1","BUB1B","BUB3","C2CD3","CAMK2B","CASK","CC2D2A","CCDC88A","CDK5RAP2","CDK6","CDKL5","CENPE","CENPJ","CEP135","CEP152","CEP290","CEP57","CEP63","CIT","CNOT1","COASY","COG4","COPB2","CPT2","CSPP1","CTSD","DDX11","DMXL2","DYNC1I2","EIF2S3","EMG1","ERCC4","ERCC6","EXOC2","EXOSC5","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FKBP14","FKRP","FKTN","GLI3","GNAO1","GPKOW","GRIN1","GRM7","IL11RA","KAT6B","KATNB1","KCNA1","KIF11","KIF14","KIF7","KIFBP","KNL1","LARGE1","LIG4","LTBP4","MAD2L2","MCM7","MCPH1","METTL5","MFSD2A","MGP","MKS1","NBN","NCAPD2","NCAPD3","NCAPH","NDE1","NEUROD2","NFIX","NHEJ1","NSUN2","NUP107","NUP37","OCLN","OSGEP","PAH","PAK3","PALB2","PARS2","PCDHGC4","PCNT","PHC1","PHF8","PHGDH","PIGP","PIGQ","PLK4","PNKP","POMT1","POMT2","PRUNE1","PSAT1","PYCR2","QARS1","RAD51","RAD51C","RBBP8","RBM10","RELN","RFWD3","RNU4ATAC","RPGRIP1","RPGRIP1L","RRP7A","RTTN","RUNX2","SARS1","SASS6","SC5D","SCN1B","SCN2A","SEPSECS","SETBP1","SIK1","SLC25A19","SLC25A22","SLC32A1","SLX4","SMPD4","STAG2","STAMBP","STIL","TAF13","TBCK","TCTN1","TCTN2","TCTN3","TMEM107","TMEM216","TMEM231","TMEM237","TMEM67","TRAPPC10","TRAPPC14","TRIM8","TRIP12","TRIP13","TSEN15","TSEN2","TSEN34","TSEN54","TTI2","TUBGCP2","TUBGCP4","TUBGCP6","TXNDC15","UBE2T","UFC1","UGP2","VARS1","VIPAS39","VPS33B","WARS1","WDR62","WDR73","WLS","XRCC2","XRCC4","ZIC2","ZNF335","ZNF526"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NARROW_FOREHEAD":{"collection":"C5:HPO","systematicName":"M34678","pmid":"","exactSource":"HP:0000341","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000341","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NARROW_FOREHEAD","geneSymbols":["ABL1","ADAM22","AFF4","AMER1","AMPD2","AP4B1","AP4E1","AP4M1","AP4S1","ASPM","ASXL1","ATN1","ATP6AP2","ATRX","BICRA","BMP2","BRAF","CACNA2D1","CAMK2B","CAMK2G","CARS1","CCDC47","CCDC88A","CDC42","CDH11","CDKL5","CLP1","COG7","COL18A1","CTCF","CTU2","DCHS1","DDX11","DDX6","DHCR7","DLK1","DNM1","DOCK7","DPH5","DTYMK","DYRK1A","ELN","EPG5","FAT4","FRA10AC1","FRMD4A","FUT8","GET4","GNB2","GNPTAB","GOLGA2","GON7","GPAA1","GPT2","GTPBP2","H3-3A","H4C9","HERC2","HNRNPK","HS2ST1","HS6ST2","IER3IP1","IFT140","KAT6A","KATNB1","KCNK4","KCNK9","KDM4B","KIF26A","LAGE3","LETM1","LGI4","LIG4","LMNB1","LZTR1","MAD1L1","MADD","MAGEL2","MAP2K2","MAPK1","MAPKAPK5","MED13L","MEG3","MEIS2","MKRN3","MLXIPL","MN1","MTSS2","MYO18B","MYOD1","NAA10","NAA20","NBAS","NDE1","NEXMIF","NF1","NPAP1","NRCAM","NUP107","NUP133","NUP188","OSGEP","PIGB","PIGN","PIGT","PIGU","PIGY","PPP1CB","PPP1R15B","PPP1R21","PPP2R3C","PPP2R5D","PRKAR1B","PSPH","PUF60","PUM1","PURA","PWAR1","PWRN1","PYCR2","QARS1","RAB3GAP1","RARS2","RBBP8","RELN","RNF13","RTL1","RYR1","SC5D","SERPINH1","SETBP1","SHOC2","SIM1","SLC12A2","SLC12A6","SLC16A2","SLC25A46","SMARCD1","SMC1A","SMG9","SMPD4","SNORD115-1","SNORD116-1","SNRPN","SON","SOX6","SPATA5L1","SPEN","SPOP","SPRED2","SPTBN1","SUOX","TBC1D24","TBCD","TBCK","TCF4","TMCO1","TNPO2","TRAPPC4","TRAPPC9","TRMT10A","TSPEAR","TUBGCP2","UGP2","USP9X","VPS53","WDR35","WWOX","ZIC2","ZNF148","ZNHIT3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LONG_PHILTRUM":{"collection":"C5:HPO","systematicName":"M34679","pmid":"","exactSource":"HP:0000343","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000343","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LONG_PHILTRUM","geneSymbols":["AARS1","ABCC8","ABCC9","ACTA1","ACTB","ACTG1","ADAMTSL2","ADNP","ADSL","AFF4","ALDH6A1","ALG11","ALG13","ALG8","ALG9","ANKRD11","ANTXR1","AP1G1","AP2M1","AP3B1","APC","ARHGEF2","ARID1A","ARID1B","ARSK","ARVCF","ARX","ATN1","ATP6V0A2","ATP6V1A","ATP6V1B2","ATP6V1E1","ATP7A","AVP","B3GALT6","B3GAT3","B3GLCT","B4GALT1","BAP1","BAZ1B","BCL11B","BCL7B","BCOR","BMP1","BMP2","BRAF","BRAT1","BRCC3","BRD4","BRF1","BRPF1","BUB1B","BUD23","C12orf57","CAMK2G","CAMTA1","CANT1","CASK","CASZ1","CBL","CCDC8","CCNK","CD96","CDC42","CDC6","CDH11","CDH2","CDK10","CHD2","CHD8","CHRNG","CHST14","CHST3","CLCF1","CLCN3","CLCN6","CLIP2","CLTC","CNOT1","COG1","COL11A1","COL11A2","COL2A1","COMT","COX7B","CPLX1","CREBBP","CRLF1","CRTAP","CSGALNACT1","CTCF","CTNNB1","CUL7","DDR2","DHCR7","DLK1","DLL3","DNAJC30","DSE","DVL1","DVL3","DYNC2H1","DYNC2I1","DYNC2I2","EED","EIF2S3","EIF4H","ELN","EPG5","ERCC6","EXOC2","EXOC7","EXOSC1","EXOSC2","EXT1","EXT2","EXTL3","EZH2","FAR1","FBN1","FBXO11","FGD1","FGF3","FGFR1","FGFR2","FKBP6","FLI1","FLNA","FOXP2","FZD2","GABRD","GAD1","GJA1","GJA5","GJA8","GLB1","GLIS3","GNE","GNPTAB","GP1BB","GPC6","GTF2I","GTF2IRD1","GTF2IRD2","H3-3A","H3-3B","HDAC8","HECTD4","HES7","HIRA","HPDL","HRAS","HSD17B4","HSPG2","HUWE1","IARS2","IDH1","IFT80","IFT81","IGF1R","INPPL1","INTS1","IRX5","JMJD1C","KARS1","KAT6B","KCNAB2","KCNH1","KCNJ11","KCNJ8","KDM4B","KIAA0753","KIF11","KIF26A","KIF7","KIT","KLHL41","KMT2A","KRAS","LFNG","LIMK1","LMNB1","LTBP1","LTBP3","LTBP4","LUZP1","MAB21L1","MAB21L2","MADD","MAF","MAP2K1","MAP2K2","MAP3K7","MAPK1","MAPK8IP3","MAPRE2","MARS2","MED12","MEG3","MEGF8","MEIS2","MESP2","METTL23","METTL27","METTL5","MGAT2","MID1","MLXIPL","MMP23B","MOCS1","MOCS2","MPC1","MRPS28","MTOR","MTX2","MUSK","MYH3","MYMK","MYMX","MYO18B","MYOD1","NAA10","NALCN","NARS2","NBAS","NCF1","NEB","NEK9","NEXMIF","NF1","NFIB","NIPBL","NLRP1","NOTCH2","NOTCH3","NRAS","NSD1","NSD2","NSRP1","NXN","OBSL1","OCLN","OCRL","OSTM1","OTUD6B","PAH","PCDHGC4","PCLO","PDE4D","PDHA1","PDPN","PEX26","PGM2L1","PHIP","PIEZO2","PIGB","PIGN","PIGQ","PIGT","PKDCC","PLAA","PLPBP","PMM2","POC1A","POLR3A","POR","POU4F1","PPP1CB","PPP1R12A","PPP1R15B","PPP1R21","PPP2R3C","PPP2R5D","PRDM16","PRKCZ","PRKDC","PRMT7","PTCH1","PTEN","PTH1R","PUF60","PUS1","PYCR1","PYCR2","RAB3GAP2","RAC3","RAD21","RAI1","RERE","RFC2","RFX7","RHOBTB2","RIC1","RIN2","RIPPLY2","RNF135","RNU4ATAC","ROR2","RPL10","RREB1","RTL1","SATB2","SC5D","SCN1A","SEC23A","SEC24C","SETBP1","SETD5","SHANK3","SHMT2","SIN3A","SKI","SKIC3","SLC25A24","SLC26A2","SLC2A1","SLC2A10","SLC6A1","SLC6A17","SLC9A7","SLF2","SMARCA2","SMARCA4","SMARCB1","SMC1A","SMC3","SMG8","SMOC1","SNAI2","SNRPB","SNX14","SOX9","SPECC1L","SPEN","SPRED2","SRCAP","STAG2","STX1A","SUZ12","SYNE1","SYNGAP1","TAF1","TAF6","TAF8","TASP1","TBC1D20","TBC1D24","TBCE","TBCK","TBL2","TBX1","TENM3","TET3","THSD1","TMEM147","TMEM270","TMEM53","TMEM70","TMEM94","TNNI2","TNPO2","TOR1A","TPM3","TRAPPC4","TRIM8","TRIO","TRIP11","TRIP12","TRMT10A","TRPS1","TTC5","TUBB","UBE4B","UBR1","UBR7","UFD1","UGP2","USB1","USP9X","VPS37D","WARS2","WDR35","WNT5A","WWOX","XYLT1","XYLT2","YARS2","ZC4H2","ZMIZ1","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HIGH_FOREHEAD":{"collection":"C5:HPO","systematicName":"M34680","pmid":"","exactSource":"HP:0000348","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000348","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HIGH_FOREHEAD","geneSymbols":["AARS1","ACTB","ACTL6B","ADAT3","AGO1","AKT3","ALDH6A1","ALG11","ANKRD11","ANTXR1","AP1S1","AP1S2","AP3B2","APC","ARID2","ARV1","ARX","ATAD3A","ATN1","ATP1A2","ATP1A3","ATP6AP1","ATP6V1A","ATP6V1B2","ATP7A","BAZ1B","BCL7B","BCORL1","BMP4","BPNT2","BRAF","BUB1","BUB1B","BUB3","BUD23","CACNA1A","CACNA1B","CACNA2D1","CAMK2G","CARS1","CBL","CCND2","CDC42BPB","CDH1","CDH11","CDK19","CDKL5","CELF2","CENPJ","CEP57","CLIP2","CLTC","CNKSR2","COX7B","CPLX1","CPT2","CRIPT","CTBP1","CTCF","CTNND1","CUL4B","CYFIP2","DALRD3","DHDDS","DHX30","DIS3L2","DNAJC30","DNM1","DPH5","DVL1","DVL3","EBF3","EEF1A2","EIF4H","ELN","EPB41L1","ERF","ETFA","ETFB","ETFDH","EXOSC1","EXT2","FBN1","FBXO11","FBXO28","FGF12","FGF13","FGFR1","FGFR2","FGFR3","FGFRL1","FIG4","FKBP6","FLI1","FOCAD","FRA10AC1","FRMPD4","FUT8","FZR1","GABBR2","GABRA2","GABRA5","GABRB2","GABRG2","GALNT2","GATA4","GH1","GHR","GJA1","GLI3","GMNN","GNB2","GNPAT","GNPTAB","GRIN2D","GTF2I","GTF2IRD1","GTF2IRD2","H3-3A","H3-3B","HBA1","HBA2","HCN1","HIC1","HIVEP2","HNRNPH1","HNRNPU","HSD17B4","HUWE1","IFT122","IFT140","IFT52","IGBP1","IL11RA","INPPL1","KANSL1","KCNA2","KCNB1","KCNH1","KMT2A","KMT2D","KMT5B","KNSTRN","KRAS","LBR","LETM1","LIMK1","LMX1B","LRP5","LZTR1","MADD","MAF","MAN2C1","MAP2K1","MAP2K2","MAPK1","MDH1","MED12","MED12L","MED25","MEF2C","METTL27","MLXIPL","MMACHC","MRAS","MTM1","MTOR","MTX2","MYOD1","NAA10","NCF1","NECAP1","NELFA","NEU1","NFIB","NFIX","NPHP3","NRAS","NSD1","NSD2","NSRP1","NTRK2","NUS1","NXN","ODC1","ORAI1","PACS2","PAFAH1B1","PARS2","PDCD6IP","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PHIP","PIGG","PIGT","PIGU","PIK3CA","PIK3CD","PIK3R2","POC1A","POLR2A","PPP1CB","PPP1R21","PPP3CA","PRDX1","PTPN11","PURA","RAF1","RASA2","RBM8A","RFC2","RIN2","RIT1","RNF113A","RRAS","RRAS2","SATB1","SATB2","SCN1A","SCN3A","SCN8A","SCNM1","SCUBE3","SERPINH1","SETBP1","SETD1A","SETD2","SETD5","SH3PXD2B","SHPK","SIN3A","SIX2","SKI","SLC13A5","SLC1A2","SLC1A3","SLC38A3","SMAD3","SOS1","SOS2","SOX6","SOX9","SPRED2","SPTBN1","STIM1","STRADA","STX1A","SUPT16H","SYNGAP1","SYNJ1","SYT1","SZT2","TAFAZZIN","TAOK1","TBCE","TBL1XR1","TBL2","TBX1","TCF20","TET3","THOC2","THOC6","TMEM237","TMEM270","TP63","TRAK1","TRIO","TRIP13","TRPV4","TRPV6","TWIST1","UBA2","UBA5","UBE2A","UNC80","UPF3B","VAC14","VPS37D","WASHC5","WDR35","WDR37","WDR4","WLS","WWOX","XRCC4","YWHAE","YWHAG","ZC4H2","ZDHHC9","ZIC1","ZIC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_WIDOW_S_PEAK":{"collection":"C5:HPO","systematicName":"M34681","pmid":"","exactSource":"HP:0000349","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000349","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WIDOW_S_PEAK","geneSymbols":["ALX1","ALX3","ATP6V1B2","DEAF1","DHX30","EFNB1","FGD1","FLNA","GDF11","HEATR3","LRP2","MID1","RERE","SATB1","SLC35C1","SPECC1L","SYT1","TWIST1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SMALL_FOREHEAD":{"collection":"C5:HPO","systematicName":"M34682","pmid":"","exactSource":"HP:0000350","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000350","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SMALL_FOREHEAD","geneSymbols":["CDK5","DMXL2","IFT57","KATNB1","KDM5C","NAA20","NDE1","NGLY1","PIGN","RELN","SNX14","TFAP2A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_OUTER_EAR":{"collection":"C5:HPO","systematicName":"M34683","pmid":"","exactSource":"HP:0000356","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000356","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_OUTER_EAR","geneSymbols":["AARS1","AASS","ABCA12","ABCC6","ABCC8","ABHD5","ACAN","ACBD5","ACER3","ACOX1","ACP5","ACTA1","ACTB","ACTG1","ACTG2","ADA2","ADAM17","ADAMTS18","ADAMTS2","ADAMTS3","ADAMTSL1","ADAMTSL2","ADAR","ADAT3","ADGRG6","ADNP","ADSL","AEBP1","AFF2","AFF3","AFF4","AGA","AGO1","AGO2","AGPAT2","AGRN","AHDC1","AHI1","AHSG","AIFM1","AIP","AKT1","ALDH18A1","ALDH1A2","ALG12","ALG13","ALG2","ALG3","ALG6","ALG8","ALG9","ALKBH8","ALMS1","ALOX12B","ALOXE3","ALX1","ALX3","ALX4","AMER1","AMMECR1","AMPD2","ANAPC7","ANK1","ANKRD11","ANO1","ANTXR1","ANTXR2","AP1G1","AP1S2","AP3B1","AP3D1","AP4E1","APC","ARID1A","ARID1B","ARID2","ARL13B","ARL3","ARL6","ARMC9","ARVCF","ARX","ASH1L","ASNS","ASPRV1","ASXL1","ASXL2","ASXL3","ATIC","ATN1","ATP2B1","ATP6AP2","ATP6V0A2","ATP6V1A","ATP6V1B2","ATP6V1E1","ATR","ATRIP","ATRX","AUTS2","B3GALNT2","B3GALT6","B3GAT3","B3GLCT","B4GALT1","B4GALT7","B4GAT1","B9D1","B9D2","BAP1","BAZ1B","BBIP1","BBS1","BBS10","BBS12","BBS2","BBS4","BBS5","BBS7","BBS9","BCL11A","BCL11B","BCL7B","BCOR","BCR","BHLHA9","BICD2","BICRA","BIN1","BLM","BLNK","BLTP1","BMP1","BMP2","BMP4","BMPER","BMPR1A","BPTF","BRAF","BRCA1","BRCA2","BRCC3","BRD4","BRF1","BRIP1","BRPF1","BRWD3","BSCL2","BSND","BUB1","BUB1B","BUB3","BUD23","C12orf57","C2CD3","CA2","CACNA1C","CACNA1G","CACNA2D1","CAMK2A","CAMK2G","CAMKMT","CAMTA1","CANT1","CAPN15","CARS1","CASK","CASZ1","CAV1","CBL","CBY1","CC2D2A","CCBE1","CCDC22","CCDC32","CCDC47","CCDC8","CCNK","CCNQ","CD79A","CD79B","CD96","CDC42","CDC42BPB","CDC45","CDC6","CDCA7","CDH11","CDH2","CDK10","CDK13","CDKN1C","CDT1","CENPE","CENPF","CENPJ","CEP104","CEP120","CEP152","CEP19","CEP290","CEP41","CEP55","CEP57","CFAP418","CHAMP1","CHAT","CHD3","CHD4","CHD5","CHD7","CHD8","CHMP1A","CHN1","CHRNA1","CHRNA7","CHRND","CHRNG","CHST14","CHST3","CHSY1","CHUK","CILK1","CIT","CLCF1","CLCN3","CLCNKA","CLCNKB","CLIC2","CLIP2","CLTC","CNOT1","CNOT2","CNOT3","CNTNAP1","COG1","COG5","COG7","COL11A1","COL11A2","COL13A1","COL2A1","COL3A1","COL4A1","COL5A1","COL6A1","COL6A2","COL6A3","COL7A1","COLEC10","COLEC11","COMT","COX7B","CPE","CPLANE1","CPLX1","CPOX","CPT2","CREBBP","CRKL","CRLF1","CRPPA","CSGALNACT1","CSNK2A1","CSPP1","CTBP1","CTCF","CTH","CTNND2","CTSD","CTU2","CUL4B","CUL7","CUX1","CWC27","CYP4F22","DACT1","DAG1","DCAF17","DCHS1","DCPS","DDB1","DDR2","DDX11","DDX3X","DDX59","DDX6","DENND5A","DHCR24","DHCR7","DHODH","DHPS","DHX16","DHX30","DHX37","DIS3L2","DLK1","DLL3","DLX4","DLX5","DNA2","DNAJC21","DNAJC30","DNM1","DNMT3B","DOCK6","DOCK7","DOK7","DONSON","DPF2","DPH1","DPH2","DPP6","DPYD","DPYSL5","DSE","DSP","DST","DVL1","DVL3","DYNC2LI1","DYRK1A","DZIP1L","EBF3","EBP","ECE1","EDEM3","EDN1","EDNRA","EED","EEF1A2","EFEMP2","EFL1","EFTUD2","EGFR","EHMT1","EIF2S3","EIF3F","EIF4A3","EIF4H","EIF5A","ELN","EMC1","ENPP1","EP300","EPG5","ERBB3","ERCC1","ERCC2","ERCC3","ERCC4","ERCC5","ERCC6","ERCC8","ERLIN2","ERMARD","ESCO2","ETFA","ETFB","ETFDH","EVC","EVC2","EXOC2","EXOC7","EXOSC2","EXOSC9","EXT1","EXT2","EYA1","EZH2","FAM149B1","FAM20C","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FAR1","FAT4","FBLN5","FBN1","FBN2","FBXL4","FBXO11","FBXW11","FDFT1","FGD1","FGF10","FGF20","FGF3","FGFR1","FGFR2","FGFR3","FGFRL1","FHL1","FIBP","FIG4","FKBP6","FKRP","FKTN","FLI1","FLNA","FLNB","FMR1","FN1","FOXF1","FOXG1","FOXL2","FOXP1","FOXP2","FRA10AC1","FRAS1","FREM1","FREM2","FRMD4A","FRMPD4","FTSJ1","FUCA1","FZD2","GABRA3","GABRD","GAD1","GALNT2","GATA1","GATA4","GBA1","GDF11","GFRA1","GJA1","GJA5","GJA8","GJB3","GJB4","GK","GLB1","GLE1","GLI2","GLI3","GLIS3","GLUL","GMNN","GNAI3","GNB1","GNB2","GNE","GNS","GON7","GP1BB","GPC3","GPC4","GPC6","GPKOW","GPR101","GPRASP2","GPT2","GPX4","GRB10","GREB1L","GRIA3","GRIA4","GRIP1","GSC","GTF2E2","GTF2H5","GTF2I","GTF2IRD1","GTF2IRD2","GTPBP2","H19","H3-3A","H4C3","H4C5","H4C9","HBA1","HBA2","HCCS","HDAC4","HDAC6","HDAC8","HEATR3","HECTD4","HECW2","HELLS","HERC1","HES7","HHAT","HIRA","HIVEP2","HMGA2","HMGB3","HMX1","HNRNPH1","HNRNPK","HOXA13","HOXA2","HOXB1","HOXD13","HRAS","HS2ST1","HS6ST2","HSD17B4","HSPA9","HSPG2","HUWE1","HYLS1","HYMAI","IDH1","IFIH1","IFT122","IFT140","IFT172","IFT27","IFT52","IFT74","IFT81","IGBP1","IGF1R","IGF2","IGHM","IGLL1","IL1RAPL1","IL6ST","INPP5E","INPPL1","INSR","INTS1","INTU","IPO8","IQSEC2","IREB2","IRX5","ITCH","ITGA3","ITGA6","ITGA8","ITGB4","ITGB6","JAG1","JARID2","JMJD1C","JUP","KANSL1","KAT5","KAT6A","KAT6B","KAT8","KATNB1","KATNIP","KCNAB2","KCNH1","KCNJ1","KCNJ11","KCNJ2","KCNJ5","KCNK4","KCNK9","KCNMA1","KCNN3","KCNQ1","KCNQ1OT1","KCTD1","KDM3B","KDM4B","KDM5B","KDM5C","KDM6A","KDM6B","KDSR","KIAA0586","KIAA0753","KIF11","KIF14","KIF15","KIF1A","KIF21A","KIF26A","KIF7","KIFBP","KLF13","KLHL40","KLHL41","KMT2A","KMT2B","KMT2C","KMT2D","KNSTRN","KRAS","KYNU","LAGE3","LARGE1","LARP7","LAS1L","LBR","LETM1","LFNG","LGI4","LIFR","LIG4","LIMK1","LIPN","LMBRD1","LMBRD2","LMNA","LMNB1","LMOD3","LMX1B","LONP1","LRP2","LRP4","LRPPRC","LRRC8A","LSM11","LSS","LUZP1","LZTFL1","LZTR1","MAB21L1","MACF1","MAD1L1","MAD2L2","MADD","MAF","MAFB","MAGEL2","MAN1B1","MAN2B1","MAN2C1","MAP1B","MAP2K1","MAP2K2","MAP3K7","MAPK1","MAPK8IP3","MAPRE2","MARS1","MARS2","MASP1","MBD5","MBTPS1","MBTPS2","MCM5","MCTP2","MECP2","MED12","MED13L","MED25","MED27","MEF2C","MEG3","MEGF8","MEIS2","MEOX1","MESD","MESP2","METTL27","METTL5","MGAT2","MGP","MID1","MID2","MINPP1","MITF","MKKS","MKS1","MLXIPL","MMACHC","MMP23B","MN1","MPDZ","MPLKIP","MRAS","MRPL12","MRPS14","MRPS16","MRPS2","MRPS22","MRPS28","MRTFA","MSL3","MSX2","MTHFR","MUSK","MVK","MYCN","MYH3","MYMX","MYO18B","MYO9A","MYOD1","MYSM1","NAA10","NAA20","NALCN","NANS","NARS1","NARS2","NBN","NCF1","NDE1","NDP","NDST1","NDUFB11","NEB","NECTIN1","NEK1","NEK9","NELFA","NEU1","NEXMIF","NF1","NFIA","NFIX","NGLY1","NHS","NIN","NIPA1","NIPA2","NIPAL4","NIPBL","NKAP","NOTCH2","NOTCH3","NPHP1","NR2F1","NRAS","NRCAM","NSD1","NSD2","NSDHL","NSRP1","NSUN2","NTNG2","NUP107","NUP133","NUP188","NUP85","NUP88","NXN","OBSL1","OCLN","OCRL","ODC1","OFD1","OGT","OPHN1","ORC1","ORC4","ORC6","OSGEP","OTUD5","OTUD6B","OTX2","PACS1","PAFAH1B1","PAH","PAICS","PAK1","PAK3","PALB2","PAM16","PAX1","PAX7","PBX1","PCDHGC4","PCGF2","PCLO","PCNT","PDE4D","PDE6D","PDPN","PDZD8","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PGAP1","PGAP2","PGAP3","PGM2L1","PHACTR1","PHF6","PHGDH","PHIP","PHOX2B","PIBF1","PIEZO1","PIEZO2","PIGA","PIGB","PIGG","PIGK","PIGL","PIGN","PIGO","PIGQ","PIGS","PIGT","PIGU","PIGV","PIGW","PIGY","PIK3CA","PIK3CD","PIK3R1","PITX1","PKHD1","PLAA","PLAG1","PLAGL1","PLCB4","PLCH1","PLEC","PLK4","PLOD1","PLOD3","PLVAP","PLXNA1","PLXND1","PMM2","PNPLA6","POC1A","POGZ","POLA1","POLE","POLR1A","POLR1B","POLR1C","POLR1D","POLR3A","POMGNT1","POMGNT2","POMK","POMT1","POMT2","POR","PORCN","POU3F3","POU4F1","PPM1B","PPM1D","PPP1CB","PPP1R12A","PPP1R15B","PPP1R21","PPP2R3C","PPP2R5D","PQBP1","PRDM16","PRDX1","PREPL","PRIM1","PRKAR1B","PRKCZ","PRKDC","PRKG2","PRPS1","PRR12","PRRX1","PRUNE1","PSAT1","PSMB8","PSMC3","PSMD12","PTCH1","PTDSS1","PTEN","PTF1A","PTH1R","PTPN11","PTPRF","PUF60","PUM1","PURA","PUS7","PYCR1","PYCR2","QARS1","QRICH1","RAB11B","RAB18","RAB23","RAB3GAP1","RAB3GAP2","RAB5IF","RAC1","RAD21","RAD51","RAD51C","RAF1","RAI1","RALA","RALGAPA1","RAPSN","RARB","RASA2","RB1","RBBP8","RBM10","RBM8A","RBMX","RDH11","RECQL","RECQL4","RELN","RERE","RET","RFC2","RFWD3","RFX7","RHOBTB2","RIC1","RIPK4","RIPPLY2","RIT1","RMRP","RNASEH2A","RNASEH2B","RNASEH2C","RNF113A","RNF2","RNU4ATAC","RNU7-1","ROR2","RPGRIP1","RPGRIP1L","RPL10","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS23","RPS24","RPS26","RPS27","RPS28","RPS29","RPS6KA3","RPS7","RRAS","RRAS2","RREB1","RSPO2","RSPRY1","RTL1","RTTN","RUSC2","RXYLT1","RYR1","SALL1","SALL4","SAMHD1","SATB1","SATB2","SBDS","SCAPER","SCARF2","SCLT1","SCN4A","SCNM1","SCYL2","SDCCAG8","SDR9C7","SEC24C","SEMA3E","SEMA5A","SEPTIN9","SET","SETBP1","SETD1A","SETD5","SF3B2","SF3B4","SH3PXD2B","SHANK3","SHOC2","SIAH1","SIM1","SIN3A","SIX1","SIX2","SIX5","SKI","SKIC3","SLC12A2","SLC12A6","SLC16A2","SLC18A3","SLC1A4","SLC25A1","SLC25A12","SLC25A24","SLC26A2","SLC2A1","SLC2A10","SLC35C1","SLC37A4","SLC39A7","SLC39A8","SLC3A1","SLC5A7","SLC6A17","SLC6A8","SLC6A9","SLC9A6","SLF2","SLX4","SMAD2","SMAD4","SMARCA2","SMARCD1","SMARCD2","SMC1A","SMC3","SMC5","SMCHD1","SMG8","SMG9","SMOC1","SMPD4","SMS","SNAP25","SNAP29","SNRPB","SOD1","SON","SOS1","SOS2","SOST","SOX11","SOX4","SOX5","SOX6","SOX9","SP7","SPART","SPECC1L","SPEG","SPEN","SPI1","SPINT2","SPOP","SPRED1","SPRED2","SPTBN1","SRCAP","SRD5A3","SRP54","SRY","SSR4","STAC3","STAG1","STAG2","STAMBP","STEEP1","STRA6","STT3A","STX1A","STXBP1","SUFU","SULT2B1","SUOX","SUPT16H","SUZ12","SYNE1","SYNGAP1","SYT2","TAB2","TAF1","TAFAZZIN","TALDO1","TAOK1","TAPT1","TARS1","TASP1","TBC1D20","TBC1D23","TBC1D24","TBCD","TBCE","TBL1XR1","TBL2","TBR1","TBX1","TBX15","TBX2","TBX22","TBX4","TCF20","TCF3","TCF4","TCOF1","TCTN1","TCTN2","TCTN3","TENM3","TET3","TFAP2A","TFAP2B","TFE3","TGDS","TGFB3","TGM1","THOC2","THUMPD1","TLK2","TMCO1","TMEM107","TMEM138","TMEM147","TMEM165","TMEM216","TMEM218","TMEM231","TMEM237","TMEM260","TMEM270","TMEM67","TMEM70","TMEM94","TNNI2","TNNT3","TNPO2","TOE1","TOGARAM1","TOPORS","TOR1A","TP53RK","TP63","TPM2","TPM3","TPRKB","TRAF7","TRAIP","TRAPPC9","TREX1","TRIM32","TRIO","TRIP11","TRIP12","TRIP13","TRMT1","TRMT10A","TRPS1","TRPV4","TRPV6","TRRAP","TSHZ1","TSPEAR","TSR2","TTC26","TTC5","TTC8","TTI2","TTN","TUBA1A","TUBB","TUBB3","TUBG1","TUBGCP2","TUBGCP4","TUBGCP6","TWIST1","TWIST2","TXNDC15","TXNL4A","UBA1","UBA2","UBE2A","UBE2T","UBE3B","UBE4B","UBR7","UFC1","UFD1","UGDH","UGP2","UMPS","UNC80","UPF3B","UQCRH","USP7","USP9X","VAC14","VAMP1","VANGL2","VARS1","VIPAS39","VPS13B","VPS33B","VPS35L","VPS37A","VPS37D","VPS51","VPS53","VSX1","WAC","WARS1","WARS2","WASHC4","WASHC5","WBP11","WDPCP","WDR19","WDR35","WDR37","WDR4","WDR73","WFS1","WLS","WNT3","WNT4","WNT5A","WNT7A","WNT7B","WNT9B","XRCC2","XYLT1","XYLT2","YME1L1","YRDC","YWHAE","YY1","ZBTB18","ZBTB20","ZBTB24","ZC4H2","ZDHHC9","ZEB2","ZIC2","ZIC3","ZMIZ1","ZMPSTE24","ZMYM2","ZMYND11","ZNF148","ZNF292","ZNF407","ZNF423","ZNF462","ZNF526","ZNF668","ZNF699","ZNF711","ZNHIT3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_POSTERIORLY_ROTATED_EARS":{"collection":"C5:HPO","systematicName":"M34685","pmid":"","exactSource":"HP:0000358","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000358","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POSTERIORLY_ROTATED_EARS","geneSymbols":["ACAN","ACTG2","ADAMTS18","ADNP","AFF4","AHI1","ALG9","ALX1","ALX3","AMER1","ANKRD11","AP1G1","AP3B1","ARID1B","ARID2","ARL6","ASXL1","ASXL2","ASXL3","ATN1","ATRX","B3GALNT2","B3GALT6","B3GLCT","B4GAT1","B9D1","B9D2","BAZ1B","BBIP1","BBS1","BBS10","BBS12","BBS2","BBS4","BBS5","BBS7","BBS9","BCL11B","BCL7B","BCOR","BICRA","BLTP1","BMP2","BMP4","BRAF","BRD4","BUB1","BUB1B","BUB3","BUD23","C2CD3","CAMKMT","CAMTA1","CANT1","CASZ1","CBL","CC2D2A","CCNK","CD96","CDC42","CDC45","CDC6","CDH11","CDH2","CDK10","CDK13","CDT1","CEP120","CEP19","CEP290","CEP41","CEP57","CFAP418","CHD5","CHD7","CHD8","CHMP1A","CHST14","CLCN3","CLIP2","COG1","COG5","COL11A2","COL2A1","COL4A1","COX7B","CPLANE1","CPLX1","CPT2","CRPPA","CSGALNACT1","CSPP1","CTBP1","CTCF","CTNND2","DAG1","DDR2","DHCR24","DHCR7","DHODH","DHX16","DHX30","DIS3L2","DLK1","DLL3","DNAJC30","DOK7","DPF2","DSE","DVL1","DVL3","EBF3","EBP","ECE1","EDN1","EED","EIF3F","EIF4H","ELN","EP300","ERCC1","ERMARD","ESCO2","EXOSC2","EXT1","EZH2","FAM149B1","FAM20C","FBN1","FBXO11","FDFT1","FGD1","FGFR1","FGFR2","FHL1","FKBP6","FKRP","FKTN","FLI1","FLNA","FN1","FRA10AC1","FRAS1","FREM1","FREM2","FRMD4A","FZD2","GABRD","GALNT2","GBA1","GLE1","GLI3","GMNN","GNAI3","GNB1","GPC3","GPC4","GPC6","GPRASP2","GPT2","GPX4","GRIP1","GTF2I","GTF2IRD1","GTF2IRD2","H3-3A","H4C9","HBA1","HBA2","HDAC8","HERC1","HES7","HOXB1","HOXD13","HRAS","HS2ST1","HS6ST2","HSPG2","HUWE1","HYLS1","IFT140","IFT172","IFT27","IFT74","IL6ST","INPP5E","INPPL1","IPO8","ITCH","KAT6A","KAT6B","KCNAB2","KCNH1","KCTD1","KDM4B","KDM6A","KIAA0586","KIAA0753","KIF21A","KIF7","KMT2B","KMT2D","KRAS","LARGE1","LETM1","LFNG","LIG4","LIMK1","LRP2","LUZP1","LZTFL1","LZTR1","MAB21L1","MAD1L1","MAF","MAP1B","MAP2K1","MAP2K2","MAP3K7","MAPK1","MAPRE2","MBTPS1","MED12","MEG3","MEGF8","MESD","MESP2","METTL27","METTL5","MGAT2","MID1","MITF","MKKS","MKS1","MLXIPL","MMP23B","MN1","MPDZ","MRAS","MRPS14","MRPS22","MRPS28","MUSK","MVK","MYCN","MYH3","MYMX","MYOD1","NAA10","NAA20","NALCN","NCF1","NELFA","NF1","NFIX","NIPBL","NOTCH3","NPHP1","NRAS","NRCAM","NSD1","NSD2","NSDHL","NSRP1","NSUN2","NUP88","NXN","OCRL","OFD1","ORC1","ORC4","ORC6","OTUD5","OTX2","PAX7","PDE4D","PDE6D","PDPN","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PHOX2B","PIEZO2","PIGB","PIGG","PIGN","PIGS","PIGU","PIGV","PLAA","PLCB4","PNPLA6","POC1A","POGZ","POLE","POLR3A","POMGNT1","POMGNT2","POMK","POMT1","POMT2","PPM1B","PPM1D","PPP1CB","PPP2R3C","PRDM16","PREPL","PRKAR1B","PRKCZ","PRRX1","PTPN11","PUF60","PYCR1","QARS1","RAB18","RAB3GAP1","RAB3GAP2","RAD21","RAF1","RAI1","RALA","RAPSN","RASA2","RBM10","RBM8A","RECQL4","RERE","RFC2","RFX7","RIPPLY2","RIT1","RMRP","RNU4ATAC","ROR2","RPGRIP1","RPGRIP1L","RPS26","RPS28","RRAS","RRAS2","RTL1","RTTN","RUSC2","RXYLT1","SATB1","SATB2","SCAPER","SCARF2","SCLT1","SDCCAG8","SEMA3E","SEMA5A","SET","SF3B4","SHOC2","SIAH1","SIX2","SKI","SLC18A3","SLC25A24","SLC26A2","SLC3A1","SMAD2","SMARCA2","SMARCD2","SMC1A","SMC3","SMG8","SMG9","SMOC1","SMPD4","SNRPB","SOD1","SOS1","SOS2","SOX11","SOX4","SOX5","SPEN","SPOP","SPRED1","SPRED2","SRCAP","SRY","STX1A","SUPT16H","SUZ12","TAPT1","TBC1D20","TBCE","TBL1XR1","TBL2","TBR1","TBX15","TCF20","TCTN1","TCTN2","TCTN3","TFAP2A","TFE3","TGDS","TLK2","TMCO1","TMEM107","TMEM138","TMEM165","TMEM216","TMEM231","TMEM237","TMEM270","TMEM67","TMEM94","TOGARAM1","TOPORS","TRIM32","TRIP13","TRPS1","TRPV4","TRRAP","TTC8","TUBA1A","TUBB","TXNDC15","UBE4B","UMPS","UNC80","USP9X","VPS37D","WAC","WDPCP","WNT5A","XYLT1","XYLT2","YY1","ZC4H2","ZEB2","ZMYM2","ZNF148","ZNF423","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_INNER_EAR":{"collection":"C5:HPO","systematicName":"M34686","pmid":"","exactSource":"HP:0000359","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000359","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_INNER_EAR","geneSymbols":["ABCC1","ADGRV1","AIFM1","AKT1","ARSG","CBL","CCDC50","CCND1","CDH23","CEP78","CHD7","CHN1","CIB2","CLRN1","COCH","COL4A6","COQ6","DDX11","ERF","ESPN","ESRP1","EYA1","FGF3","FGFR2","FGFR3","FOXI1","FOXP2","GJB2","GJB6","GREB1L","HAAO","HARS1","HRAS","KARS1","KCNJ10","KRAS","LZTR1","MAFB","MAP3K7","MRAS","MT-TS2","MYO7A","NDP","NF2","NRAS","ORC1","OTX2","PCDH15","PDZD7","PEX6","PI4KB","POLR1B","POLR1C","POLR1D","POU3F4","PRRX1","PTEN","PTPN11","RAF1","RASA2","RIT1","RRAS","RRAS2","SALL4","SEMA3E","SETBP1","SIX1","SIX5","SLC26A4","SMARCB1","SOS1","SOS2","SOX10","SPRED1","SPRED2","SRCAP","TCOF1","THOC1","TIMM8A","TMIE","TP63","TRRAP","TWIST1","USH1C","USH1G","USH2A","USP48","VHL","WHRN"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_TINNITUS":{"collection":"C5:HPO","systematicName":"M34687","pmid":"","exactSource":"HP:0000360","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000360","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TINNITUS","geneSymbols":["ABCC1","AIFM1","AKT1","ATP1A2","ATP2B2","BAP1","CACNA1A","CACNA1D","CAV1","CCDC50","CCND1","CLCN2","CLCNKB","COCH","COQ6","CYP11B1","CYP11B2","DIABLO","DKK1","DLST","DNMT3A","DSPP","EPAS1","FH","GRM1","JAK2","KCNJ5","KCNQ4","KIF1B","LOXHD1","LZTR1","MAX","MDH2","MFN2","MIR96","MPL","NAGA","NF1","NF2","OSBPL2","P2RX2","PDGFB","PIK3CA","PMP22","PRRT2","RET","SCN1A","SDHA","SDHAF2","SDHB","SDHC","SDHD","SLC12A3","SLC25A11","SLC39A14","SLC44A4","SMARCB1","SMARCE1","SMO","SUFU","TERT","TET2","THOC1","TMC1","TMEM127","TRAF7","VHL"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_OTOSCLEROSIS":{"collection":"C5:HPO","systematicName":"M34688","pmid":"","exactSource":"HP:0000362","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000362","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OTOSCLEROSIS","geneSymbols":["BPTF","COL1A1","COL1A2","GDF6","IDS","PSMD12"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_EARLOBE_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M34689","pmid":"","exactSource":"HP:0000363","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000363","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_EARLOBE_MORPHOLOGY","geneSymbols":["ABHD5","AHDC1","ARVCF","ATR","ATRIP","B4GALT7","BCR","BICRA","BMP4","BRAF","BUB1","CDC42BPB","CDC6","CDH11","CENPE","CENPJ","CEP152","CHD7","COL2A1","COL3A1","COMT","COX7B","CREBBP","CRKL","CUL4B","DHCR24","DNA2","DOCK7","DPYD","EBF3","EFTUD2","EHMT1","EIF2S3","ELN","EP300","ESCO2","FGD1","FGFR2","FIG4","FLI1","FN1","GJA1","GP1BB","GPC3","GPC4","GRIA3","HBA1","HBA2","HCCS","HDAC8","HIRA","HIVEP2","HMX1","HNRNPH1","HRAS","HS2ST1","HYMAI","IL1RAPL1","JMJD1C","KAT6A","KCTD1","KMT2B","KMT2C","LAS1L","MAN2C1","MAPK1","MAPRE2","MED25","MGAT2","MLXIPL","NDUFB11","NOTCH2","NR2F1","NSD2","NUP85","OTUD5","PCNT","PGAP3","PGM2L1","PHF6","PHIP","PIGB","PIGL","PIGQ","PIGY","PIK3CA","PLAGL1","PLK4","PLXNA1","POLR3A","POR","PRR12","PTPRF","RAC1","RBBP8","RBM10","RDH11","RECQL","RREB1","SCARF2","SEC24C","SEMA3E","SETBP1","SIN3A","SLC26A2","SLC35C1","SMARCD1","SMG9","SMOC1","SMS","SPEN","TBL1XR1","TBX1","TMEM94","TPRKB","TRAIP","TRIP12","TWIST1","UFC1","UFD1","UGDH","VPS13B","VPS53","WARS1","WDR4","ZEB2","ZMYM2","ZNF407"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HEARING_ABNORMALITY":{"collection":"C5:HPO","systematicName":"M47030","pmid":"","exactSource":"HP:0000364","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000364","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEARING_ABNORMALITY","geneSymbols":["AAAS","AARS1","ABCA12","ABCA4","ABCB6","ABCC1","ABCC6","ABCC8","ABCC9","ABCD1","ABHD12","ABHD5","ACO2","ACOX1","ACSL4","ACTB","ACTC1","ACTG1","ACTN2","ACVR1","ACY1","ADAMTS3","ADAMTSL1","ADAT3","ADCY1","ADGRG1","ADGRV1","ADK","ADPRS","AFF4","AGBL5","AGO2","AGRN","AHDC1","AHI1","AHR","AHSG","AIFM1","AIPL1","AK2","AKAP9","AKT1","ALAD","ALDH18A1","ALG11","ALG12","ALG2","ALG3","ALMS1","ALOX12B","ALOXE3","ALX1","ALX3","AMER1","AMMECR1","ANAPC7","ANK2","ANKH","ANKRD1","ANKRD11","ANOS1","ANTXR1","AP1B1","AP1S1","AP1S2","AP3D1","APC","APC2","ARHGAP29","ARHGDIA","ARHGEF18","ARHGEF38","ARID1A","ARID1B","ARID2","ARL2BP","ARL3","ARL6","ARNT2","ARSA","ARSB","ARSG","ARSL","ARVCF","ARX","ASAH1","ASCL1","ASH1L","ASPA","ASPM","ATG7","ATL1","ATL3","ATN1","ATOH1","ATP11A","ATP1A2","ATP1A3","ATP2B2","ATP5F1A","ATP5F1D","ATP5F1E","ATP5MK","ATP6AP1","ATP6V0A4","ATP6V1B1","ATP6V1B2","ATP7A","ATP8B1","ATPAF1","ATPAF2","ATRX","B3GALT6","B3GLCT","BAG3","BAG5","BAP1","BAZ1B","BBIP1","BBS1","BBS10","BBS12","BBS2","BBS4","BBS5","BBS7","BBS9","BCAP31","BCL7B","BCOR","BCR","BCS1L","BDNF","BDP1","BEAN1","BEST1","BICRA","BMP1","BMP15","BMP2","BMP4","BNC1","BPNT2","BPTF","BRAF","BRCA1","BRCA2","BRD4","BRIP1","BSND","BTD","BTK","BTRC","BUB1","BUB1B","BUB3","BUD23","C1QBP","CA2","CA4","CABP2","CACNA1A","CACNA1B","CACNA1C","CACNA1D","CACNA1I","CALM1","CALM2","CALM3","CAP2","CARS1","CARS2","CASK","CASZ1","CAT","CATSPER2","CAV1","CAV3","CBFB","CBL","CC2D2A","CCBE1","CCDC103","CCDC134","CCDC141","CCDC28B","CCDC39","CCDC40","CCDC50","CCDC65","CCND1","CCNO","CD109","CD151","CD164","CDC14A","CDC42","CDC42BPB","CDC45","CDC6","CDCA7","CDH1","CDH11","CDH23","CDHR1","CDK5RAP2","CDK8","CDON","CDT1","CEACAM16","CEACAM3","CEACAM6","CEP19","CEP250","CEP290","CEP57","CEP78","CERKL","CERS3","CERT1","CFAP221","CFAP298","CFAP300","CFAP418","CFAP74","CFTR","CHAT","CHCHD10","CHD4","CHD7","CHN1","CHRNG","CHST14","CHST3","CHSY1","CIB2","CISD2","CLCA4","CLCN2","CLCN3","CLCN6","CLCN7","CLCNKA","CLCNKB","CLDN14","CLDN9","CLIC5","CLIP2","CLPP","CLRN1","CLRN2","CLTC","CNGA1","CNGB1","CNOT1","CNOT2","CNOT3","CNTNAP1","COA8","COBLL1","COCH","COG1","COG4","COG5","COG7","COL11A1","COL11A2","COL13A1","COL1A1","COL1A2","COL25A1","COL27A1","COL2A1","COL4A3","COL4A4","COL4A5","COL4A6","COL9A1","COL9A2","COL9A3","COLEC10","COLEC11","COMT","COQ2","COQ6","COQ7","COQ8A","COX10","COX11","COX16","COX7B","CPLANE1","CPLX1","CRB1","CREB3L1","CREBBP","CRKL","CRLS1","CRTAP","CRX","CRYAB","CRYM","CSPP1","CSRP3","CTBP1","CTC1","CTLA4","CTNNB1","CTNND1","CTSA","CTSK","CYP11B1","CYP11B2","CYP7B1","DAB1","DACT1","DARS2","DCAF17","DCC","DCDC2","DCHS1","DCTN4","DDB2","DDR2","DDX11","DDX3X","DDX59","DEAF1","DES","DGUOK","DHCR7","DHDDS","DHODH","DHX16","DHX38","DIABLO","DIAPH1","DIAPH3","DISP1","DKC1","DKK1","DLG1","DLL1","DLST","DLX4","DLX5","DLX6","DMD","DMP1","DMXL2","DNAAF1","DNAAF11","DNAAF2","DNAAF3","DNAAF4","DNAAF5","DNAAF6","DNAH1","DNAH11","DNAH5","DNAH9","DNAI1","DNAI2","DNAJB13","DNAJC19","DNAJC21","DNAJC3","DNAJC30","DNAL1","DNASE1L3","DNM1L","DNMT1","DNMT3A","DNMT3B","DOLK","DPAGT1","DPF2","DPH1","DPH2","DRC1","DSE","DSG2","DSP","DSPP","DTYMK","DUOX2","DUOXA2","DUSP6","DUX4","DUX4L1","DVL1","DVL3","DYM","DYRK1A","EBP","ECE1","ECHS1","EDC3","EDN1","EDN3","EDNRA","EDNRB","EFL1","EFNB1","EFTUD2","EHMT1","EIF3F","EIF4H","EIF5A","ELAC2","ELMO2","ELMOD3","ELN","ELOVL1","ENPP1","EP300","EPAS1","EPB41L1","EPG5","EPHA10","EPRS1","EPS15L1","EPS8","EPS8L2","EPS8L3","ERAL1","ERBB2","ERBB3","ERCC1","ERCC2","ERCC3","ERCC4","ERCC5","ERCC6","ERCC8","ERF","ESPN","ESRP1","ESRRB","EXOSC2","EXOSC8","EXT1","EYA1","EYA4","EYS","FAM149B1","FAM161A","FAM20C","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FAR1","FARS2","FAS","FAT4","FBN1","FBXW4","FBXW7","FDXR","FEZF1","FGF10","FGF17","FGF3","FGF8","FGF9","FGFR1","FGFR2","FGFR3","FGFRL1","FH","FHL2","FIBP","FIG4","FITM2","FKBP10","FKBP14","FKBP6","FKTN","FLCN","FLII","FLNA","FLNB","FLRT3","FMR1","FOXC1","FOXH1","FOXI1","FOXJ1","FOXP2","FOXRED1","FRAS1","FREM2","FRG1","FSCN2","FSHR","FTO","FUCA1","FUS","FXN","FZD2","FZD4","G6PC3","GAA","GAB1","GABRD","GALC","GALE","GALK1","GALNS","GALNT2","GAS1","GAS2L2","GAS8","GATA1","GATA2","GATA3","GATAD1","GATB","GATC","GBA1","GBA2","GCH1","GCK","GCLC","GDF3","GDF5","GDF6","GDNF","GFER","GGPS1","GIPC1","GIPC3","GJA1","GJA5","GJA8","GJB1","GJB2","GJB3","GJB4","GJB6","GJC2","GLA","GLB1","GLI2","GLI3","GLIS3","GLYCTK","GMNN","GMPPA","GMPPB","GNAI3","GNAQ","GNAS","GNB1","GNPTAB","GNRH1","GNRHR","GNS","GOSR2","GP1BA","GP1BB","GPC3","GPC4","GPRASP2","GPSM2","GRAP","GREB1L","GRHL2","GRHL3","GRIK2","GRIP1","GRM1","GRM7","GRXCR1","GRXCR2","GSC","GSDME","GSN","GSTM3","GTF2E2","GTF2H5","GTF2I","GTF2IRD1","GTF2IRD2","GUCA1B","GUCY2D","GUSB","GZF1","H3-3B","H4C5","H4C9","HAAO","HACE1","HAND2","HARS1","HARS2","HAX1","HCCS","HDAC4","HDAC8","HECTD4","HESX1","HFE","HGD","HGF","HGSNAT","HIRA","HK1","HLA-B","HLA-DPA1","HLA-DPB1","HLA-DRB1","HMOX1","HNF1B","HNRNPK","HOMER2","HOXA1","HOXA11","HOXA2","HOXB1","HS2ST1","HS6ST1","HSD17B10","HSD17B4","HSPD1","HSPG2","HTRA2","HUWE1","HYDIN","HYMAI","IARS1","IARS2","IDH3A","IDH3B","IDS","IDUA","IFNG","IFRD1","IFT140","IFT172","IFT27","IFT74","IFT88","IGBP1","IGF1","IKBKG","IL11RA","IL17RD","ILDR1","IMPDH1","IMPDH2","IMPG1","IMPG2","INF2","INS","INTU","IQCB1","IQSEC2","IRF6","IRX5","ITGA2","ITGA2B","ITGB3","ITGB6","ITM2B","ITPR1","IYD","JAG1","JAK2","JMJD1C","JPH2","KANSL1","KARS1","KAT6B","KCNAB2","KCNC3","KCNE1","KCNE2","KCNE5","KCNH1","KCNH2","KCNJ10","KCNJ11","KCNJ13","KCNJ16","KCNJ5","KCNMA1","KCNN3","KCNN4","KCNQ1","KCNQ4","KDM3B","KDM6A","KDSR","KIAA0586","KIAA0753","KIAA1549","KIF15","KIF1B","KIF21A","KIF5A","KIF7","KISS1","KISS1R","KIT","KITLG","KIZ","KLHL7","KLLN","KMT2C","KMT2D","KPTN","KRAS","KRT5","KYNU","L2HGDH","LAMA4","LAMB1","LARS1","LARS2","LCA5","LDB3","LETM1","LHFPL5","LHX1","LHX3","LHX4","LIG3","LIG4","LIMK1","LMNA","LMNB1","LMNB2","LMOD2","LMX1A","LMX1B","LONP1","LORICRIN","LOXHD1","LRAT","LRP12","LRP2","LRP4","LRP5","LRRC32","LRRC56","LRTOMT","LSS","LTBP1","LUZP1","LZTFL1","LZTR1","MAD2L2","MADD","MAF","MAFB","MAK","MAN2B1","MAN2C1","MANBA","MAP1B","MAP2K1","MAP3K20","MAP3K7","MAPK1","MAPKAPK5","MARS1","MARS2","MARVELD2","MASP1","MAX","MBTPS2","MCIDAS","MCM2","MCTP2","MDH2","MECOM","MED11","MED12","MED13L","MEGF8","MEN1","MEOX1","MERTK","MET","METTL27","MFN2","MGAT2","MGP","MIA3","MICOS13","MICU1","MID1","MIF","MINAR2","MIR96","MITF","MKKS","MKS1","MLXIPL","MMP23B","MN1","MOGS","MORC2","MPDZ","MPEG1","MPL","MPLKIP","MPZ","MPZL2","MRAS","MRPS2","MRPS22","MRPS28","MRPS7","MSH4","MSL3","MSRB3","MSTO1","MSX1","MT-ATP6","MT-ATP8","MT-CO1","MT-CO2","MT-CO3","MT-CYB","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND5","MT-ND6","MT-RNR1","MT-TC","MT-TE","MT-TF","MT-TH","MT-TI","MT-TK","MT-TL1","MT-TN","MT-TP","MT-TQ","MT-TS1","MT-TS2","MT-TV","MT-TW","MTHFD1","MTRR","MTSS2","MYBPC3","MYCN","MYD88","MYH11","MYH14","MYH3","MYH6","MYH7","MYH9","MYMK","MYO15A","MYO3A","MYO6","MYO7A","MYO9A","MYPN","MYSM1","NAA10","NAGA","NAGLU","NALCN","NARS2","NAXD","NBN","NCAPG2","NCF1","NDE1","NDNF","NDP","NDRG1","NDUFA1","NDUFA11","NDUFA13","NDUFA6","NDUFA9","NDUFAF1","NDUFAF2","NDUFAF3","NDUFAF4","NDUFAF5","NDUFAF8","NDUFB10","NDUFB11","NDUFB3","NDUFB9","NDUFS1","NDUFS2","NDUFS3","NDUFS4","NDUFS6","NDUFS7","NDUFS8","NDUFV1","NDUFV2","NECTIN1","NEDD4L","NEFL","NEK1","NEK10","NEK2","NELFA","NEU1","NEXN","NF1","NF2","NFIX","NHLH2","NHP2","NIPAL4","NIPBL","NKX2-1","NLRP12","NLRP3","NME5","NME8","NMNAT1","NODAL","NOG","NOP10","NOP56","NOS1AP","NOTCH2","NOTCH2NLC","NOTCH3","NPHP1","NPM1","NPTX1","NR2E3","NR2F1","NR4A2","NR5A1","NRAS","NRCAM","NRL","NRTN","NSD1","NSD2","NSDHL","NSMF","NSUN2","NUBPL","NUP107","NUP133","NUS1","NXN","OAT","ODAD1","ODAD2","ODAD3","ODAD4","ODC1","OFD1","OGDHL","OPA1","OPA3","ORC1","ORC4","ORC6","OSBPL2","OSTM1","OTOA","OTOF","OTOG","OTOGL","OTUD5","OTUD6B","OTX2","P2RX2","P4HA2","PALB2","PARN","PAX1","PAX2","PAX3","PAX6","PAX7","PBX1","PCARE","PCDH15","PCGF2","PCLO","PCNA","PCNT","PCYT1A","PDE1C","PDE4D","PDE6A","PDE6B","PDE6D","PDE6G","PDGFB","PDGFRA","PDGFRB","PDK3","PDPN","PDSS1","PDX1","PDZD7","PEPD","PERP","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PEX7","PGAP2","PGM3","PHEX","PHF6","PHOX2A","PHOX2B","PHYH","PI4KA","PI4KB","PIEZO1","PIEZO2","PIGA","PIGB","PIGG","PIGL","PIGO","PIGS","PIGT","PIGV","PIK3C2A","PIK3CA","PIK3CD","PIK3R1","PISD","PITX2","PJVK","PLA2G6","PLAA","PLAGL1","PLCB4","PLCH1","PLN","PLOD3","PLP1","PLS1","PLXND1","PMP22","PMPCB","PNP","PNPLA1","PNPLA2","PNPLA6","PNPT1","POGZ","POLD1","POLG","POLG2","POLR1B","POLR1C","POLR1D","POLR3A","POLR3GL","POLR3H","POLRMT","POMGNT1","POMK","POR","PORCN","POU1F1","POU3F4","POU4F3","PPCS","PPFIBP1","PPIP5K2","PPP1CB","PPP1R15B","PPP2R3C","PQBP1","PRCD","PRDM12","PRDM16","PRDM5","PRF1","PRG4","PRKAR1A","PRKCZ","PRKDC","PRMT7","PROK2","PROKR2","PROM1","PROP1","PRORP","PRPF3","PRPF31","PRPF4","PRPF6","PRPF8","PRPH2","PRPS1","PRR12","PRRT2","PRRX1","PRTN3","PSAP","PSEN1","PSEN2","PSMB1","PSMC1","PSMC3","PSMC3IP","PSMD12","PTCD3","PTCH1","PTDSS1","PTEN","PTH1R","PTPN11","PTPN22","PTPRQ","PTRH2","PUF60","PUS3","PUS7","PYCR2","QRSL1","RAB23","RAB3GAP2","RAC1","RAD21","RAD51","RAD51C","RAF1","RAI1","RASA2","RBM10","RBM20","RBM8A","RBMX","RBP3","RD3","RDH12","RDH5","RDX","RECQL4","REEP6","RERE","REST","RET","REV3L","RFC1","RFC2","RFT1","RFWD3","RGR","RHO","RIC1","RILPL1","RIPOR2","RIT1","RLBP1","RMND1","RNASEH1","RNASET2","RNF113A","RNF13","RNF135","RNF220","RNU12","ROBO1","ROBO3","ROM1","ROR1","ROR2","RP1","RP1L1","RP2","RP9","RPE65","RPGR","RPGRIP1","RPL10","RPL11","RPL3L","RPS23","RPS26","RPS28","RPS6KA3","RRAS","RRAS2","RREB1","RRM2B","RSPH1","RSPH3","RSPH4A","RSPH9","RTEL1","RTTN","RUNX2","S1PR2","SAG","SALL1","SALL4","SARDH","SBDS","SBF2","SC5D","SCAPER","SCD5","SCLT1","SCN10A","SCN1A","SCN4B","SCN5A","SCP2","SDCCAG8","SDHA","SDHAF2","SDHB","SDHC","SDHD","SDR9C7","SEC23B","SEC24C","SEC31A","SELENOI","SEM1","SEMA3A","SEMA3C","SEMA3D","SEMA3E","SEMA4A","SERAC1","SERPINA1","SERPINB6","SETBP1","SETD1A","SETD2","SF3B2","SF3B4","SGCD","SGMS2","SGPL1","SGSH","SH2B1","SH3TC2","SHANK3","SHH","SHOC2","SIN3A","SIN3B","SIX1","SIX3","SIX5","SIX6","SKI","SLC10A7","SLC11A1","SLC12A2","SLC12A3","SLC17A8","SLC18A3","SLC19A2","SLC25A1","SLC25A10","SLC25A11","SLC25A24","SLC25A4","SLC26A2","SLC26A4","SLC26A5","SLC26A9","SLC29A3","SLC30A9","SLC33A1","SLC35A2","SLC35C1","SLC39A14","SLC39A7","SLC39A8","SLC44A4","SLC4A11","SLC52A2","SLC52A3","SLC5A5","SLC5A7","SLC6A14","SLC7A14","SLC9A1","SLC9A3","SLITRK6","SLX4","SMAD4","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SMC1A","SMC3","SMCHD1","SMG8","SMO","SMPX","SNAI2","SNAP25","SNAP29","SNRNP200","SNRPB","SNTA1","SNX10","SNX14","SON","SOS1","SOS2","SOST","SOX10","SOX11","SOX2","SOX3","SOX4","SOX6","SOX9","SP7","SPAG1","SPARC","SPATA5","SPATA5L1","SPATA7","SPEF2","SPEN","SPG7","SPIDR","SPNS2","SPOP","SPRED1","SPRED2","SPRY4","SPTBN1","SPTBN4","SPTLC1","SPTLC2","SQSTM1","SRCAP","SRD5A3","SREBF1","SRP54","SRP72","SRPX2","SRY","ST3GAL5","STAC3","STAG2","STAMBP","STAT3","STIL","STK36","STRC","STUB1","STX11","STX1A","STXBP2","SUCLA2","SUCLG1","SUFU","SULT2B1","SUMF1","SURF1","SYNE1","SYNE4","SYT2","TAC3","TACR3","TAF1","TAF1A","TAFAZZIN","TANGO2","TAOK1","TARDBP","TARS1","TASP1","TBC1D24","TBCK","TBK1","TBL1XR1","TBL1Y","TBL2","TBX1","TBX15","TBX22","TBX4","TBX5","TCAP","TCF12","TCIRG1","TCOF1","TCTN3","TDGF1","TDO2","TECTA","TELO2","TERC","TERT","TET2","TFAP2A","TFAP2B","TG","TGFB1","TGIF1","TGM1","THOC1","THOC2","THOC6","THRB","THSD1","THUMPD1","TIMM8A","TIMMDC1","TINF2","TK2","TKT","TMC1","TMEM126A","TMEM126B","TMEM127","TMEM132E","TMEM147","TMEM216","TMEM270","TMEM38B","TMEM43","TMEM53","TMEM67","TMIE","TMPO","TMPRSS3","TNC","TNFRSF11A","TNFRSF11B","TNFSF11","TNNC1","TNNI3","TNNT2","TNRC6B","TOP3A","TOPORS","TP63","TPM1","TPM2","TPO","TPRKB","TPRN","TRAF7","TRAPPC11","TRAPPC12","TRAPPC4","TRDN","TRIM32","TRIOBP","TRIP13","TRMT10A","TRMT10C","TRMU","TRNT1","TRPS1","TRPV3","TRPV4","TRRAP","TSC2","TSHZ1","TSPAN12","TSPEAR","TSR2","TTC12","TTC19","TTC26","TTC8","TTN","TTR","TUB","TUBA1A","TUBB2B","TUBB3","TUBB4B","TULP1","TWIST1","TWIST2","TWNK","TXNL4A","TXNRD2","TYMP","TYMS","TYR","UBA1","UBB","UBE2A","UBE2T","UBE3C","UBE4B","UBR1","UFD1","UFM1","UGT1A1","UNC13D","UNC45A","UQCC2","USB1","USF3","USH1C","USH1G","USH2A","USP45","USP48","USP53","USP7","USP9X","VAC14","VAMP1","VARS1","VCL","VCP","VDR","VEZF1","VHL","VPS11","VPS13B","VPS33B","VPS37A","VPS37D","VPS4A","VSX1","WAC","WBP2","WDPCP","WDR11","WDR37","WDR81","WFS1","WHRN","WNT10B","WNT4","WNT5A","WRAP53","WT1","XPA","XPC","XPNPEP3","XRCC2","XRCC4","XYLT2","YAP1","YARS1","YME1L1","YY1","ZBTB20","ZEB2","ZFP57","ZIC1","ZIC2","ZMIZ1","ZMPSTE24","ZMYND10","ZNF407","ZNF408","ZNF462","ZNF469","ZNF513","ZNF526","ZNF699","ZSWIM7"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LOW_SET_POSTERIORLY_ROTATED_EARS":{"collection":"C5:HPO","systematicName":"M34690","pmid":"","exactSource":"HP:0000368","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000368","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOW_SET_POSTERIORLY_ROTATED_EARS","geneSymbols":["ACAN","ACTG2","AFF4","AHI1","ALG9","ALX1","ALX3","ARID1B","ARL6","ASXL1","B3GLCT","B9D1","B9D2","BAZ1B","BBIP1","BBS1","BBS10","BBS12","BBS2","BBS4","BBS5","BBS7","BBS9","BCL7B","BCOR","BRAF","BRD4","BUB1","BUB1B","BUB3","BUD23","C2CD3","CAMKMT","CANT1","CASZ1","CBL","CC2D2A","CD96","CDC42","CEP120","CEP19","CEP290","CEP41","CEP57","CFAP418","CHD7","CHST14","CLIP2","COG1","CPLANE1","CPLX1","CSGALNACT1","CSPP1","CTBP1","CTCF","CTNND2","DHCR24","DHCR7","DHODH","DLK1","DLL3","DNAJC30","DSE","EDN1","EED","EIF4H","ELN","ERMARD","EXT1","EZH2","FAM149B1","FGD1","FGFR1","FKBP6","FLI1","FRAS1","FREM2","FRMD4A","GABRD","GBA1","GLE1","GLI3","GNAI3","GPC3","GPC4","GRIP1","GTF2I","GTF2IRD1","GTF2IRD2","HBA1","HBA2","HDAC8","HERC1","HES7","HOXD13","HRAS","HSPG2","HYLS1","IFT172","IFT27","IFT74","INPP5E","ITCH","KAT6A","KCNAB2","KIAA0586","KIAA0753","KIF7","KRAS","LETM1","LFNG","LIG4","LIMK1","LUZP1","LZTFL1","LZTR1","MAP2K1","MAP2K2","MAPRE2","MEG3","MESP2","METTL27","MGAT2","MKKS","MKS1","MLXIPL","MMP23B","MRAS","MVK","NAA10","NALCN","NCF1","NELFA","NF1","NIPBL","NPHP1","NRAS","NSD1","NSD2","NSUN2","NXN","OCRL","OFD1","OTX2","PDE6D","PDPN","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PIGG","PIGN","PLAA","PLCB4","PNPLA6","PPM1B","PPP1CB","PRDM16","PREPL","PRKCZ","PRRX1","PTPN11","RAB18","RAB3GAP1","RAB3GAP2","RAD21","RAF1","RAI1","RASA2","RBM10","RBM8A","RERE","RFC2","RIPPLY2","RIT1","RMRP","ROR2","RPGRIP1","RPGRIP1L","RRAS","RRAS2","RTL1","RTTN","SCAPER","SCLT1","SDCCAG8","SEMA3E","SEMA5A","SF3B4","SHOC2","SKI","SLC25A24","SLC26A2","SLC3A1","SMC1A","SMC3","SMOC1","SOS1","SOS2","SPEN","SPRED2","SRY","STX1A","SUZ12","TBC1D20","TBCE","TBL2","TBR1","TCTN1","TCTN2","TCTN3","TFAP2A","TGDS","TMCO1","TMEM107","TMEM138","TMEM216","TMEM231","TMEM237","TMEM270","TMEM67","TOPORS","TRIM32","TRIP13","TRPS1","TRPV4","TTC8","TUBB","TXNDC15","UBE4B","UMPS","UNC80","USP9X","VPS37D","WDPCP","XYLT1","ZNF423"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LOW_SET_EARS":{"collection":"C5:HPO","systematicName":"M47031","pmid":"","exactSource":"HP:0000369","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000369","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOW_SET_EARS","geneSymbols":["ACAN","ACER3","ACOX1","ACP5","ACTA1","ACTB","ACTG2","ADA2","ADAMTS2","ADAMTS3","ADAR","ADAT3","ADGRG6","ADNP","ADSL","AFF3","AFF4","AGRN","AHDC1","AHI1","AIFM1","AKT1","ALDH18A1","ALDH1A2","ALG13","ALG2","ALG6","ALG8","ALG9","ALX1","ALX3","ALX4","AMER1","ANO1","ANTXR1","ANTXR2","AP1G1","AP3B1","AP3D1","ARID1B","ARID2","ARL13B","ARL3","ARL6","ARMC9","ARVCF","ARX","ASH1L","ASXL1","ASXL2","ASXL3","ATIC","ATN1","ATP2B1","ATP6AP2","ATP6V0A2","ATP6V1A","ATP6V1B2","ATP6V1E1","ATR","ATRX","AUTS2","B3GALNT2","B3GALT6","B3GAT3","B3GLCT","B4GALT1","B4GALT7","B4GAT1","B9D1","B9D2","BAP1","BAZ1B","BBIP1","BBS1","BBS10","BBS12","BBS2","BBS4","BBS5","BBS7","BBS9","BCL11A","BCL7B","BCOR","BICRA","BLTP1","BMP2","BMP4","BMPER","BMPR1A","BRAF","BRCC3","BRD4","BRF1","BRPF1","BUB1","BUB1B","BUB3","BUD23","C12orf57","C2CD3","CACNA1C","CACNA2D1","CAMK2G","CAMKMT","CAMTA1","CANT1","CASZ1","CAV1","CBL","CBY1","CC2D2A","CCBE1","CCDC22","CCDC47","CCNK","CCNQ","CD96","CDC42","CDC42BPB","CDC45","CDC6","CDCA7","CDH11","CDH2","CDK10","CDK13","CDKN1C","CDT1","CENPF","CENPJ","CEP104","CEP120","CEP152","CEP19","CEP290","CEP41","CEP55","CEP57","CFAP418","CHAMP1","CHAT","CHD3","CHD4","CHD5","CHD7","CHMP1A","CHRNA1","CHRND","CHRNG","CHST14","CHST3","CHSY1","CHUK","CILK1","CLCN3","CLIP2","CNOT1","CNOT2","CNOT3","CNTNAP1","COG1","COG5","COG7","COL11A1","COL11A2","COL13A1","COL2A1","COL4A1","COLEC10","COLEC11","COMT","CPLANE1","CPLX1","CPT2","CREBBP","CRLF1","CRPPA","CSGALNACT1","CSNK2A1","CSPP1","CTBP1","CTCF","CTNND2","CTSD","CTU2","CUX1","CWC27","DAG1","DCPS","DDB1","DDR2","DDX3X","DDX59","DDX6","DHCR24","DHCR7","DHODH","DHPS","DHX30","DIS3L2","DLK1","DLL3","DLX4","DNAJC30","DNM1","DNMT3B","DOCK6","DONSON","DPF2","DPH1","DPH2","DPYSL5","DSE","DST","DVL1","DVL3","DYNC2LI1","DZIP1L","EBF3","EBP","EDEM3","EDN1","EDNRA","EED","EEF1A2","EFEMP2","EFL1","EFTUD2","EIF4A3","EIF4H","EIF5A","ELN","EP300","EPG5","ERCC1","ERCC4","ERCC5","ERMARD","ESCO2","EXOC2","EXOC7","EXOSC2","EXOSC9","EXT1","EYA1","EZH2","FAM149B1","FAM20C","FANCB","FANCD2","FANCL","FAT4","FBLN5","FBN1","FBXO11","FDFT1","FGD1","FGF10","FGF20","FGFR1","FGFR2","FGFR3","FHL1","FIG4","FKBP6","FKRP","FKTN","FLI1","FLNA","FLNB","FOXF1","FOXL2","FOXP2","FRA10AC1","FRAS1","FREM1","FREM2","FRMD4A","FUCA1","FZD2","GABRA3","GABRD","GAD1","GALNT2","GATA1","GATA4","GBA1","GFRA1","GJA1","GJA5","GJA8","GK","GLB1","GLE1","GLI3","GLIS3","GLUL","GMNN","GNAI3","GNB2","GNE","GNS","GON7","GP1BB","GPC3","GPC4","GPC6","GPKOW","GPT2","GREB1L","GRIP1","GTF2H5","GTF2I","GTF2IRD1","GTF2IRD2","GTPBP2","H3-3A","H4C3","H4C5","H4C9","HBA1","HBA2","HDAC6","HDAC8","HEATR3","HELLS","HERC1","HES7","HIRA","HMGA2","HMX1","HNRNPH1","HOXB1","HOXD13","HRAS","HS2ST1","HS6ST2","HSD17B4","HSPG2","HUWE1","HYLS1","IFIH1","IFT122","IFT140","IFT172","IFT27","IFT52","IFT74","IFT81","IGBP1","IGF1R","IGF2","IL6ST","INPP5E","INPPL1","INSR","INTS1","INTU","IPO8","IREB2","IRX5","ITCH","ITGA8","JAG1","JARID2","JMJD1C","KAT5","KAT6A","KAT6B","KAT8","KATNB1","KATNIP","KCNAB2","KCNH1","KCNJ2","KCNJ5","KCNK4","KCTD1","KDM4B","KDM6A","KIAA0586","KIAA0753","KIF14","KIF15","KIF26A","KIF7","KIFBP","KLHL40","KLHL41","KMT2A","KMT2D","KRAS","KYNU","LARGE1","LARP7","LBR","LETM1","LFNG","LIFR","LIG4","LIMK1","LMBRD1","LMNA","LMOD3","LMX1B","LRP2","LRPPRC","LRRC8A","LSM11","LUZP1","LZTFL1","LZTR1","MAB21L1","MACF1","MADD","MAF","MAGEL2","MAN1B1","MAP2K1","MAP2K2","MAP3K7","MAPK1","MAPK8IP3","MAPRE2","MARS1","MARS2","MASP1","MBD5","MBTPS2","MCM5","MCTP2","MECP2","MED12","MED13L","MED25","MED27","MEF2C","MEG3","MEGF8","MEIS2","MESD","MESP2","METTL27","METTL5","MGAT2","MID1","MINPP1","MKKS","MKS1","MLXIPL","MMACHC","MMP23B","MN1","MRAS","MRPL12","MRPS14","MRPS16","MRPS2","MRPS22","MRPS28","MSL3","MTHFR","MUSK","MVK","MYCN","MYH3","MYMX","MYO18B","MYO9A","MYOD1","MYSM1","NAA10","NAA20","NALCN","NARS1","NCF1","NDE1","NEB","NEK9","NELFA","NEU1","NF1","NFIA","NFIX","NGLY1","NIPBL","NOTCH2","NOTCH3","NPHP1","NRAS","NSD1","NSD2","NSRP1","NSUN2","NTNG2","NUP188","NUP88","NXN","OCLN","OCRL","OFD1","OGT","ORC1","ORC4","ORC6","OSGEP","OTUD5","OTUD6B","OTX2","PACS1","PAFAH1B1","PAICS","PAM16","PAX1","PAX7","PBX1","PCDHGC4","PCGF2","PCLO","PCNT","PDE6D","PDPN","PDZD8","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PHACTR1","PHGDH","PHOX2B","PIBF1","PIEZO2","PIGB","PIGG","PIGN","PIGT","PIGU","PIK3R1","PITX1","PKHD1","PLAA","PLAG1","PLCB4","PLCH1","PLOD3","PLVAP","PLXND1","PNPLA6","POC1A","POGZ","POLE","POLR3A","POMGNT1","POMGNT2","POMK","POMT1","POMT2","POR","PORCN","PPM1B","PPM1D","PPP1CB","PPP1R12A","PPP1R21","PPP2R3C","PPP2R5D","PRDM16","PRDX1","PREPL","PRIM1","PRKCZ","PRKDC","PRKG2","PRPS1","PRR12","PRRX1","PRUNE1","PSAT1","PSMD12","PTCH1","PTEN","PTF1A","PTH1R","PTPN11","PUM1","PURA","PUS7","PYCR2","QARS1","QRICH1","RAB18","RAB23","RAB3GAP1","RAB3GAP2","RAB5IF","RAC1","RAD21","RAF1","RAI1","RALA","RALGAPA1","RAPSN","RARB","RASA2","RB1","RBM10","RBM8A","RDH11","RECQL4","RELN","RERE","RET","RFC2","RIPK4","RIPPLY2","RIT1","RMRP","RNASEH2A","RNASEH2B","RNASEH2C","RNU4ATAC","RNU7-1","ROR2","RPGRIP1","RPGRIP1L","RPL10","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS23","RPS24","RPS26","RPS27","RPS28","RPS29","RPS7","RRAS","RRAS2","RREB1","RSPO2","RSPRY1","RTL1","RTTN","RUSC2","RXYLT1","RYR1","SAMHD1","SATB2","SCAPER","SCLT1","SCN4A","SCNM1","SCYL2","SDCCAG8","SEC24C","SEMA3E","SEMA5A","SEPTIN9","SETBP1","SETD1A","SETD5","SF3B4","SH3PXD2B","SHOC2","SIAH1","SIM1","SKI","SKIC3","SLC12A2","SLC18A3","SLC1A4","SLC25A1","SLC25A24","SLC26A2","SLC37A4","SLC39A8","SLC3A1","SLC5A7","SLC6A9","SMAD2","SMAD4","SMARCA2","SMARCD2","SMC1A","SMC3","SMC5","SMG8","SMG9","SMOC1","SMS","SNAP25","SNRPB","SOD1","SON","SOS1","SOS2","SOX11","SOX4","SOX5","SOX6","SOX9","SPART","SPECC1L","SPEN","SPINT2","SPOP","SPRED1","SPRED2","SRCAP","SRD5A3","SRY","STAC3","STAG1","STAG2","STAMBP","STRA6","STX1A","STXBP1","SUFU","SUPT16H","SUZ12","SYT2","TAB2","TAF1","TALDO1","TAOK1","TAPT1","TASP1","TBC1D20","TBC1D24","TBCE","TBL2","TBR1","TBX1","TBX15","TBX2","TCF20","TCTN1","TCTN2","TCTN3","TENM3","TFAP2A","TFAP2B","TGDS","THUMPD1","TMCO1","TMEM107","TMEM138","TMEM147","TMEM165","TMEM216","TMEM218","TMEM231","TMEM237","TMEM260","TMEM270","TMEM67","TMEM70","TMEM94","TOE1","TOGARAM1","TOPORS","TPM2","TPM3","TRAF7","TREX1","TRIM32","TRIP11","TRIP12","TRIP13","TRPS1","TRPV4","TRPV6","TRRAP","TSPEAR","TSR2","TTC26","TTC5","TTC8","TUBB","TUBB3","TWIST1","TWIST2","TXNDC15","UBA2","UBE3B","UBE4B","UBR7","UFC1","UFD1","UGP2","UMPS","UNC80","UPF3B","USP7","USP9X","VAC14","VAMP1","VANGL2","VARS1","VIPAS39","VPS33B","VPS35L","VPS37D","WARS2","WASHC4","WASHC5","WBP11","WDPCP","WDR35","WDR37","WDR73","WNT3","WNT4","WNT5A","WNT7A","WNT7B","WNT9B","XYLT1","XYLT2","YWHAE","YY1","ZBTB18","ZBTB24","ZC4H2","ZDHHC9","ZIC3","ZMIZ1","ZMPSTE24","ZMYM2","ZNF148","ZNF292","ZNF423","ZNF462","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_MIDDLE_EAR":{"collection":"C5:HPO","systematicName":"M34691","pmid":"","exactSource":"HP:0000370","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000370","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_MIDDLE_EAR","geneSymbols":["A2ML1","ABCA12","ABCA4","ABCC6","ACP5","ACVR1","ADA","ADA2","ADAMTS3","ADAT3","AFF4","AGA","AGBL5","AGR2","AHI1","AHR","AIFM1","AIRE","AK2","ALMS1","ALOX12B","ALOXE3","ALX1","ALX3","AMER1","AMMECR1","ANAPC1","ANKH","ANKRD11","AP3B1","APC2","ARHGAP29","ARHGEF18","ARHGEF38","ARID2","ARL2BP","ARL3","ARL6","ARSL","ARVCF","ASPRV1","ATN1","B3GALT6","B3GLCT","BAP1","BAZ1B","BBS1","BBS2","BCL7B","BCOR","BEST1","BLM","BLNK","BMP2","BMP4","BPTF","BRD4","BTK","BUD23","C1QB","C4B","CA2","CA4","CACNA1B","CARMIL2","CASZ1","CC2D2A","CCBE1","CCDC103","CCDC39","CCDC40","CCDC47","CCDC65","CCNO","CD19","CD247","CD3D","CD3E","CD3G","CD4","CD79A","CD79B","CD81","CDC42BPB","CDCA7","CDH1","CDH11","CDHR1","CDK5RAP2","CERKL","CFAP221","CFAP298","CFAP300","CFAP418","CFAP45","CFAP52","CFAP74","CFI","CHD7","CHRNG","CIITA","CLCN7","CLIP2","CLRN1","CNGA1","CNGB1","CNOT1","CNOT3","COBLL1","COG1","COL11A1","COL11A2","COL1A1","COL1A2","COL2A1","COMT","CORO1A","CPLANE1","CPLX1","CR2","CRB1","CREB3L1","CREBBP","CRX","CTBP1","CTLA4","CTNND1","CTSK","CXCR4","CYBA","CYBB","CYBC1","CYP4F22","DCHS1","DCLRE1C","DDB1","DDR2","DEAF1","DHCR7","DHDDS","DHODH","DHX38","DIAPH3","DLG1","DLK1","DLST","DLX4","DNAAF1","DNAAF11","DNAAF2","DNAAF3","DNAAF4","DNAAF5","DNAAF6","DNAH1","DNAH11","DNAH5","DNAH9","DNAI1","DNAI2","DNAJB13","DNAJC30","DNAL1","DNMT3A","DOCK2","DOCK8","DPF2","DPP9","DRC1","DVL1","EDN1","EDNRA","EFTUD2","EIF4H","EIF5A","ELANE","ELMO2","ELMOD3","ELN","ENPP1","EP300","EPAS1","ERCC6","ERCC8","ERF","EXT1","EYA1","EYA4","EYS","FAM149B1","FAM161A","FAM20C","FANCF","FANCI","FAT4","FBN1","FBXW7","FCGR3A","FGF10","FGF3","FGF9","FGFR2","FGFR3","FGFRL1","FH","FKBP14","FKBP6","FLII","FLNA","FLNB","FMR1","FOCAD","FOXJ1","FOXP1","FRAS1","FREM2","FSCN2","FZD2","G6PC3","GABRD","GALNT2","GAS2L2","GAS8","GATA1","GATA2","GDF5","GDF6","GJA1","GJB2","GJB6","GLRA2","GMNN","GNB2","GNPTAB","GNS","GP1BB","GRHL3","GRIP1","GSC","GTF2I","GTF2IRD1","GTF2IRD2","GUCA1B","GUSB","H4C3","H4C5","HAX1","HDAC4","HDAC8","HEPHL1","HGSNAT","HIRA","HLA-B","HLA-DPA1","HLA-DPB1","HLA-DRB1","HNRNPK","HOXA2","HSPG2","HYAL1","HYDIN","ICOS","IDH3A","IDH3B","IDS","IDUA","IFT140","IFT172","IFT88","IGBP1","IGHG2","IGHM","IGKC","IGLL1","IKBKB","IKBKG","IL11RA","IL17RA","IL21R","IL2RB","IL2RG","IL6R","IL6ST","IL7R","IMPDH1","IMPG1","IMPG2","IQSEC2","IRF2BP2","IRF6","JAGN1","JAK3","JMJD1C","KANSL1","KAT6A","KCNAB2","KDM6A","KIAA0753","KIAA1549","KIF15","KIF1B","KIF7","KIZ","KLHL7","KMT2A","KMT2D","KMT5B","LBR","LETM1","LIG1","LIMK1","LIPN","LMNA","LONP1","LRAT","LRBA","LRP5","LRRC56","LRRC8A","LUZP1","MAGT1","MAK","MAN2B1","MAP3K7","MAPK1","MASP1","MAX","MCIDAS","MDH2","MED12","MEG3","MEOX1","MERTK","METTL27","MGP","MLXIPL","MMP23B","MNS1","MPDU1","MS4A1","MSX1","MYCN","MYH3","NAA10","NBN","NCF1","NCF2","NCF4","NCKAP1L","NECTIN1","NEK1","NEK10","NEK2","NELFA","NF1","NFIX","NFKB1","NFKB2","NFKBIA","NIPAL4","NIPBL","NKX2-1","NME5","NME8","NOG","NOTCH2","NOTCH2NLC","NOTCH3","NR2E3","NRL","NSD1","NSD2","NXN","OCRL","ODAD1","ODAD2","ODAD3","ODAD4","OFD1","OSTM1","OTOF","P4HA2","PAX1","PCARE","PCGF2","PCYT1A","PDE6A","PDE6B","PDE6D","PDE6G","PDGFRA","PDPN","PEPD","PGM1","PGM3","PHIP","PIGG","PIGL","PIK3C2A","PIK3CD","PIK3CG","PIK3R1","PLCG2","PLG","PNP","POLR1B","POLR1C","POLR1D","POLR3A","POMGNT1","POR","PORCN","POU3F4","PRCD","PRDM16","PRDM5","PRKAR1B","PRKCD","PRKCZ","PROM1","PRORP","PRPF3","PRPF31","PRPF4","PRPF6","PRPF8","PRPH2","PRRX1","PRTN3","PSMB8","PSMD12","PTEN","PTPN22","RAB23","RAC1","RAC2","RAD21","RAG1","RAG2","RAI1","RBP3","RDH12","RECQL4","REEP6","RELB","RERE","RET","RFC2","RFX5","RFXANK","RFXAP","RGR","RHO","RIC1","RLBP1","RNF168","RNF2","RNU4ATAC","ROBO1","ROM1","ROR2","RP1","RP1L1","RP2","RP9","RPE65","RPGR","RPL11","RPS23","RPS26","RPS28","RREB1","RSPH1","RSPH3","RSPH4A","RSPH9","RTL1","RUNX2","SAG","SALL4","SC5D","SCAPER","SDCCAG8","SDHA","SDHAF2","SDHB","SDHC","SDHD","SDR9C7","SEC24C","SEMA4A","SETBP1","SETD2","SF3B2","SF3B4","SGMS2","SH2B1","SH3KBP1","SIN3A","SIX1","SIX5","SKI","SLC25A11","SLC25A12","SLC25A24","SLC35C1","SLC37A4","SLC39A7","SLC7A14","SLF2","SMARCD2","SMC1A","SMC3","SMCHD1","SMG9","SNRNP200","SNRPB","SNX10","SOST","SOX9","SP7","SPAG1","SPATA7","SPEF2","SPEN","SPI1","SPTBN1","SRCAP","SRY","STAC3","STAG2","STAT3","STK36","STX1A","SULT2B1","SYK","TAF1","TAOK1","TAP1","TAP2","TAPBP","TBL2","TBX1","TBX22","TBX4","TCF3","TCIRG1","TCOF1","TCTN3","TELO2","TFAP2A","TFE3","TGDS","TGM1","TLK2","TLR8","TMCO1","TMEM127","TMEM216","TMEM270","TMEM67","TNFRSF11A","TNFRSF13B","TNFRSF13C","TNFSF11","TNFSF12","TNRC6B","TOPORS","TP63","TP73","TPP2","TRAC","TRPS1","TSHZ1","TSR2","TTC12","TTC8","TUB","TULP1","TWIST1","TXNL4A","UBB","UBE4B","UFD1","UNC119","USB1","USH2A","USP26","VARS1","VHL","VPS37D","WAS","WDR26","WIPF1","ZBTB20","ZEB2","ZMPSTE24","ZMYND10","ZNF341","ZNF408","ZNF469","ZNF513","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ACUTE_OTITIS_MEDIA":{"collection":"C5:HPO","systematicName":"M34692","pmid":"","exactSource":"HP:0000371","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000371","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACUTE_OTITIS_MEDIA","geneSymbols":["CIITA","JAK3","RFX5","RFXANK","RFXAP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_AUDITORY_CANAL":{"collection":"C5:HPO","systematicName":"M34693","pmid":"","exactSource":"HP:0000372","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000372","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_AUDITORY_CANAL","geneSymbols":["ADAM17","ANAPC7","ATP6V1B2","B3GLCT","BRD4","CDC45","CDC6","CDT1","CHN1","CHRNG","COG1","COL2A1","COL7A1","CPLX1","CTBP1","DCHS1","DDR2","EDN1","EDNRA","EFTUD2","EGFR","ERBB3","EYA1","FAT4","FGFR2","FGFRL1","FKRP","FKTN","FRAS1","FREM2","GLI3","GMNN","GNAI3","GPRASP2","GRIP1","GSC","HDAC8","HMX1","HOXA2","IPO8","KIF15","KMT2D","LARGE1","LETM1","MAF","MAFB","MED12","MRTFA","NIPBL","NOTCH3","NSD2","ORC1","ORC4","ORC6","PAX1","PLCB4","POMT1","POMT2","POR","PORCN","RAD21","RPL11","RPL26","RPS26","RPS28","SALL4","SF3B2","SF3B4","SIX1","SIX5","SLC12A2","SMC1A","SMC3","SMCHD1","SNRPB","SOST","SP7","STAG2","TBC1D24","TBX15","TCOF1","TP63","TSHZ1","TSR2","TWIST2","VPS37A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_COCHLEA_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M34694","pmid":"","exactSource":"HP:0000375","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000375","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_COCHLEA_MORPHOLOGY","geneSymbols":["ARSG","CDH23","CEP78","CIB2","CLRN1","COCH","COL4A6","DDX11","ESPN","EYA1","FOXI1","FOXP2","GREB1L","HAAO","HARS1","KCNJ10","MT-TS2","MYO7A","NDP","ORC1","PCDH15","PEX6","PI4KB","POU3F4","SETBP1","SIX1","SIX5","SLC26A4","SRCAP","TIMM8A","TRRAP","USH1C","USH1G"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INCOMPLETE_PARTITION_OF_THE_COCHLEA_TYPE_II":{"collection":"C5:HPO","systematicName":"M43254","pmid":"","exactSource":"HP:0000376","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000376","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCOMPLETE_PARTITION_OF_THE_COCHLEA_TYPE_II","geneSymbols":["EYA1","FOXI1","HAAO","KCNJ10","ORC1","PI4KB","SIX1","SLC26A4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CUPPED_EAR":{"collection":"C5:HPO","systematicName":"M34696","pmid":"","exactSource":"HP:0000378","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000378","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CUPPED_EAR","geneSymbols":["ADNP","AFF4","ASXL2","BCL11A","BCOR","BRWD3","CHD4","CHD5","CHD7","CSNK2A1","CTCF","DACT1","DDX11","DHCR24","DHODH","DNAJC21","ECE1","EDNRA","EIF5A","EYA1","FBXW11","FGF10","FGFR2","FGFR3","FIG4","FOXL2","FRAS1","GNAI3","HUWE1","IGBP1","IPO8","KCTD1","KDM6A","MBD5","MED12","ODC1","PAX1","PGAP2","PGAP3","PIEZO1","PIGL","PIGN","PIGO","PIGV","PIGW","PIGY","PLXNA1","POU3F3","PQBP1","PRR12","QRICH1","RIPK4","SCNM1","SIN3A","SIX1","SMS","SPTBN1","SUPT16H","TBX2","TCF4","TWIST1","WLS","ZEB2","ZNF292","ZNF462"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_STAPES_ANKYLOSIS":{"collection":"C5:HPO","systematicName":"M41219","pmid":"","exactSource":"HP:0000381","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000381","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_STAPES_ANKYLOSIS","geneSymbols":["ABCC6","ENPP1","GJB2","GJB6","IL11RA","NOG","POU3F4","RAD21"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_PERIAURICULAR_REGION_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M34697","pmid":"","exactSource":"HP:0000383","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000383","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PERIAURICULAR_REGION_MORPHOLOGY","geneSymbols":["ALX1","ALX3","ANK1","ANKRD11","ARID1B","AUTS2","B3GLCT","BCOR","BRF1","CCDC22","CHD7","CHN1","CITED2","COL2A1","CPLX1","CTBP1","CTNND2","DACT1","DICER1","DPYSL5","EDN1","EDNRA","EFTUD2","EIF2AK3","EXT2","EYA1","FGFR1","FGFR2","FGFRL1","FLNA","FLNB","FLT4","FN1","GATA4","GATA5","GATA6","GDF1","GJA5","GNAI3","GPC3","GPC4","GSC","H4C3","H4C5","H4C9","HK1","HNRNPK","HNRNPU","IRX5","JAG1","KAT6A","KCNJ2","KDM6A","KDR","KIF7","KMT2D","KRAS","LETM1","LRP1","LRP5","MAFB","MED12","MED13L","MID1","MITF","MSL3","NAA10","NKX2-5","NKX2-6","NPHP3","NSD2","ODC1","PAX1","PIGS","PLCB4","POLR1B","POLR1C","POLR1D","PPP1CB","PRMT7","RAB23","SALL1","SALL4","SEMA3E","SEMA5A","SF3B2","SF3B4","SIX1","SIX5","SMARCA2","SNRPN","SPECC1L","STAG2","SVBP","SYK","TASP1","TBX1","TCOF1","TFAP2A","TMEM260","TRPM3","TXNL4A","UBE2A","UBE3B","VPS13B","VPS35L","WASHC5","WBP11","WLS","XYLT2","ZFPM2","ZNF462","ZNF668"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SMALL_EARLOBE":{"collection":"C5:HPO","systematicName":"M34699","pmid":"","exactSource":"HP:0000385","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000385","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SMALL_EARLOBE","geneSymbols":["ABHD5","AHDC1","ARVCF","CDC6","COL2A1","COMT","EBF3","FIG4","FN1","GP1BB","HIRA","HNRNPH1","JMJD1C","KAT6A","KCTD1","POLR3A","PTPRF","RBM10","RREB1","SCARF2","SEC24C","SLC35C1","SMS","TBX1","UFD1","ZMYM2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABSENT_EARLOBE":{"collection":"C5:HPO","systematicName":"M34700","pmid":"","exactSource":"HP:0000387","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000387","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_EARLOBE","geneSymbols":["ATR","ATRIP","B4GALT7","CENPE","CENPJ","CEP152","COL3A1","CREBBP","DNA2","EP300","ESCO2","HMX1","KMT2B","NUP85","PCNT","PLK4","POLR3A","RBBP8","TRAIP","ZNF407"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_OTITIS_MEDIA":{"collection":"C5:HPO","systematicName":"M34701","pmid":"","exactSource":"HP:0000388","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000388","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OTITIS_MEDIA","geneSymbols":["A2ML1","ABCA12","ACP5","ADA","ADA2","ADAT3","AGA","AGR2","AK2","ALMS1","ALOX12B","ALOXE3","ANAPC1","ANKRD11","AP3B1","APC2","ARHGAP29","ARHGEF38","ARVCF","ASPRV1","ATN1","BAP1","BAZ1B","BCL7B","BCOR","BLM","BLNK","BMP4","BPTF","BTK","BUD23","C1QB","C4B","CARMIL2","CCDC103","CCDC39","CCDC40","CCDC47","CCDC65","CCNO","CD19","CD247","CD3D","CD3E","CD3G","CD4","CD79A","CD79B","CD81","CDC42BPB","CDH1","CFAP221","CFAP298","CFAP300","CFAP45","CFAP52","CFAP74","CFI","CIITA","CLCN7","CLIP2","COBLL1","COL11A1","COL2A1","COMT","CORO1A","CPLX1","CR2","CREBBP","CTBP1","CTLA4","CXCR4","CYBA","CYBB","CYBC1","CYP4F22","DCLRE1C","DDB1","DEAF1","DHCR7","DLG1","DLK1","DLX4","DNAAF1","DNAAF11","DNAAF2","DNAAF3","DNAAF4","DNAAF5","DNAAF6","DNAH1","DNAH11","DNAH5","DNAH9","DNAI1","DNAI2","DNAJB13","DNAJC30","DNAL1","DOCK2","DOCK8","DPF2","DPP9","DRC1","EIF4H","ELANE","ELN","EP300","FCGR3A","FGF3","FGFR2","FGFR3","FKBP6","FLII","FLNA","FMR1","FOCAD","FOXJ1","FOXP1","FZD2","G6PC3","GAS2L2","GAS8","GATA2","GLRA2","GNB2","GNPTAB","GNS","GP1BB","GRHL3","GTF2I","GTF2IRD1","GTF2IRD2","GUSB","H4C3","H4C5","HEPHL1","HIRA","HLA-DPA1","HLA-DPB1","HYAL1","HYDIN","ICOS","IDS","IDUA","IGHG2","IGHM","IGKC","IGLL1","IKBKB","IKBKG","IL11RA","IL17RA","IL21R","IL2RB","IL2RG","IL6R","IL6ST","IL7R","IQSEC2","IRF2BP2","IRF6","JAGN1","JAK3","JMJD1C","KANSL1","KAT6A","KDM6A","KIF15","KMT2A","KMT2D","KMT5B","LBR","LETM1","LIG1","LIMK1","LIPN","LRBA","LRRC56","LRRC8A","MAGT1","MAN2B1","MAP3K7","MAPK1","MCIDAS","MED12","MEG3","METTL27","MGP","MLXIPL","MNS1","MS4A1","MSX1","NAA10","NBN","NCF1","NCF2","NCF4","NCKAP1L","NECTIN1","NEK10","NELFA","NFKB1","NFKB2","NFKBIA","NIPAL4","NIPBL","NME5","NME8","NSD1","NSD2","NXN","OCRL","ODAD1","ODAD2","ODAD3","ODAD4","OFD1","PCYT1A","PDGFRA","PGM1","PGM3","PHIP","PIGG","PIK3CD","PIK3CG","PIK3R1","PLCG2","PNP","POLR3A","PRKAR1B","PRKCD","PRTN3","PSMB8","PSMD12","PTEN","PTPN22","RAC1","RAC2","RAG1","RAG2","RAI1","RELB","RFC2","RFX5","RFXANK","RFXAP","RIC1","RNF168","RNF2","RNU4ATAC","ROR2","RPGR","RPL11","RREB1","RSPH1","RSPH3","RSPH4A","RSPH9","RTL1","RUNX2","SDCCAG8","SDR9C7","SEC24C","SETD2","SH3KBP1","SLC25A12","SLC35C1","SLC37A4","SLC39A7","SMARCD2","SMG9","SNX10","SPAG1","SPEF2","SPI1","SPTBN1","SRCAP","SRY","STAT3","STK36","STX1A","SULT2B1","SYK","TAF1","TAOK1","TAP1","TAP2","TAPBP","TBL2","TBX1","TBX4","TCF3","TCIRG1","TFE3","TGDS","TGM1","TLK2","TLR8","TMCO1","TMEM270","TNFRSF13B","TNFRSF13C","TNFSF11","TNFSF12","TNRC6B","TP63","TP73","TPP2","TRAC","TTC12","UBB","UFD1","UNC119","USB1","USP26","VPS37D","WAS","WDR26","WIPF1","ZEB2","ZMYND10","ZNF341"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CHRONIC_OTITIS_MEDIA":{"collection":"C5:HPO","systematicName":"M34702","pmid":"","exactSource":"HP:0000389","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000389","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHRONIC_OTITIS_MEDIA","geneSymbols":["ABCA12","AGA","AK2","ALOX12B","ALOXE3","ANKRD11","APC2","ARVCF","ASPRV1","BAZ1B","BCL7B","BLNK","BTK","BUD23","CARMIL2","CCDC103","CCDC39","CCDC40","CCDC65","CCNO","CD19","CD79A","CD79B","CD81","CFAP221","CFAP298","CFAP300","CFAP45","CFAP74","CLIP2","COMT","CPLX1","CR2","CTBP1","CTLA4","CYP4F22","DEAF1","DNAAF1","DNAAF11","DNAAF2","DNAAF3","DNAAF4","DNAAF5","DNAAF6","DNAH1","DNAH11","DNAH5","DNAH9","DNAI1","DNAI2","DNAJB13","DNAJC30","DNAL1","DOCK8","DRC1","EIF4H","ELN","FGFR2","FKBP6","FLII","FMR1","FOXJ1","GAS2L2","GAS8","GATA2","GNB2","GP1BB","GTF2I","GTF2IRD1","GTF2IRD2","HIRA","HLA-DPA1","HLA-DPB1","HYDIN","ICOS","IGHM","IGLL1","IL11RA","IL6ST","IQSEC2","IRF2BP2","IRF6","JMJD1C","KAT6A","LETM1","LIMK1","LIPN","LRRC56","LRRC8A","MCIDAS","METTL27","MLXIPL","MS4A1","MSX1","NCF1","NECTIN1","NEK10","NELFA","NFKB1","NFKB2","NIPAL4","NME5","NME8","NSD1","NSD2","NXN","OCRL","ODAD1","ODAD2","ODAD3","ODAD4","OFD1","PGM3","PIGG","PIK3R1","PRKCD","PRTN3","PTPN22","RAI1","RFC2","ROR2","RPGR","RREB1","RSPH1","RSPH3","RSPH4A","RSPH9","RUNX2","SDR9C7","SEC24C","SETD2","SLC25A12","SLC39A7","SPAG1","SPEF2","SPI1","STAT3","STK36","STX1A","SULT2B1","TAF1","TAP1","TAP2","TAPBP","TBL2","TBX1","TBX4","TCF3","TGDS","TGM1","TMEM270","TNFRSF13B","TNFRSF13C","TNFSF12","TP63","TP73","TTC12","UFD1","VPS37D","WAS","WIPF1","ZMYND10"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_THICKENED_HELICES":{"collection":"C5:HPO","systematicName":"M34703","pmid":"","exactSource":"HP:0000391","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000391","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THICKENED_HELICES","geneSymbols":["ADAMTSL2","AFF4","BMP2","BRAF","CBL","CDH2","DDX3X","DIS3L2","DYRK1A","EDEM3","FBN1","FGFR2","GDF11","H4C5","KRAS","LZTR1","MAP2K1","MAP2K2","MRAS","NRAS","PBX1","PGAP2","PGAP3","PIGL","PIGO","PIGS","PIGV","PIGW","PIGY","PPP1CB","PTPN11","RAF1","RASA2","RB1","RIT1","RRAS","RRAS2","SIN3A","SMS","SOS1","SOS2","SPOP","SPRED2","SUPT16H","TAF1","TCF4","XYLT2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LOP_EAR":{"collection":"C5:HPO","systematicName":"M34704","pmid":"","exactSource":"HP:0000394","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000394","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOP_EAR","geneSymbols":["C12orf57","CCNQ","CHD7","COL5A1","IGBP1","SALL1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PROMINENT_ANTIHELIX":{"collection":"C5:HPO","systematicName":"M34705","pmid":"","exactSource":"HP:0000395","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000395","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROMINENT_ANTIHELIX","geneSymbols":["AP4E1","BICRA","EVC","EVC2","FIG4","GLI2","KAT6A","MGAT2","NR2F1","PGAP1","RAB11B","RBM10","RECQL4","SLC16A2","TOR1A","WAC"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PRELINGUAL_SENSORINEURAL_HEARING_IMPAIRMENT":{"collection":"C5:HPO","systematicName":"M34706","pmid":"","exactSource":"HP:0000399","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000399","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PRELINGUAL_SENSORINEURAL_HEARING_IMPAIRMENT","geneSymbols":["ADCY1","ATP2B2","CDH23","ESPN","GIPC3","GJB2","GJB6","HGF","IARS2","IGF1","MARVELD2","RIPOR2","TIMM8A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MACROTIA":{"collection":"C5:HPO","systematicName":"M34707","pmid":"","exactSource":"HP:0000400","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000400","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MACROTIA","geneSymbols":["ADAMTSL1","ADAT3","AEBP1","AGO1","AGPAT2","AHSG","AIP","AKT1","ALDH18A1","ALG3","ALG9","ALKBH8","ANKRD11","AP1S2","AP3D1","ASNS","ATP6V1A","ATP6V1B2","BAZ1B","BCL7B","BMP4","BRAF","BRD4","BRWD3","BSCL2","BUD23","CA2","CACNA2D1","CASK","CBL","CENPE","CEP120","CHRNA1","CHRNA7","CHST14","CIT","CLCN3","CLIC2","CLIP2","COLEC10","COLEC11","CPE","CTU2","CWC27","DDB1","DENND5A","DHX30","DNAJC30","DPF2","DPYSL5","DSE","DYRK1A","EED","EIF2S3","EIF4H","ELN","ERCC1","ERCC2","ERCC4","ERCC6","ERCC8","EYA1","EZH2","FAR1","FDFT1","FGFR2","FIBP","FKBP6","FLNA","FMR1","FTSJ1","GLB1","GLI2","GNB2","GON7","GPR101","GRIA3","GRIA4","GTF2I","GTF2IRD1","GTF2IRD2","HDAC4","HDAC8","HECTD4","HECW2","HERC1","HHAT","IDH1","INSR","IPO8","IQSEC2","ITGA3","ITGB6","JAG1","KANSL1","KATNB1","KCNH1","KCNJ1","KCNMA1","KCNN3","KDM4B","KDM5C","KDM6A","KDM6B","KIF1A","KIFBP","KMT2D","KRAS","LAGE3","LIMK1","LMBRD2","LSS","MAN1B1","MAN2B1","MAP2K1","MAP2K2","MASP1","MBTPS1","MBTPS2","MECP2","MED13L","METTL27","METTL5","MGAT2","MGP","MID2","MINPP1","MLXIPL","MMACHC","MPLKIP","NAA10","NALCN","NARS1","NBN","NCF1","NDE1","NDP","NECTIN1","NEXMIF","NHS","NIPBL","NSD1","NUP107","NUP133","ODC1","OPHN1","OSGEP","OTUD6B","PACS1","PAK3","PAX1","PCLO","PGAP1","PHF6","PHGDH","PHIP","PIEZO2","PIGN","PIK3R1","PLCH1","PMM2","POLR1A","PPP1CB","PPP1R15B","PQBP1","PRDX1","PRUNE1","PSMB8","PTCH1","PTDSS1","PTEN","PYCR2","QRICH1","RAB18","RAB3GAP1","RAB3GAP2","RAD21","RBMX","RDH11","RFC2","RHOBTB2","RMRP","RPL10","SALL1","SET","SHANK3","SHOC2","SIN3A","SLC12A6","SLC16A2","SLC2A1","SLC2A10","SLC6A17","SLC9A6","SMARCA2","SMC1A","SMC3","SMG8","SNAP29","SOX6","SSR4","STEEP1","STX1A","SUOX","SUZ12","SYNE1","SYNGAP1","TAF1","TAFAZZIN","TAPT1","TBC1D20","TBC1D23","TBCD","TBL1XR1","TBL2","TBX22","TENM3","THOC2","TMEM270","TNPO2","TOE1","TOR1A","TP53RK","TPRKB","TRAPPC9","TRIO","TRMT10A","TRPS1","TTI2","UBE2A","VPS37D","WDR4","WDR73","YME1L1","YRDC","ZBTB20","ZIC2","ZNF526","ZNF668","ZNF699","ZNF711","ZNHIT3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_STENOSIS_OF_THE_EXTERNAL_AUDITORY_CANAL":{"collection":"C5:HPO","systematicName":"M34708","pmid":"","exactSource":"HP:0000402","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000402","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_STENOSIS_OF_THE_EXTERNAL_AUDITORY_CANAL","geneSymbols":["ANAPC7","B3GLCT","CHN1","COG1","COL2A1","COL7A1","CPLX1","CTBP1","EDN1","EDNRA","EYA1","FAT4","FGFR2","FGFRL1","GMNN","GNAI3","GPRASP2","HMX1","HOXA2","LETM1","MAF","MAFB","MED12","NSD2","PLCB4","POR","PORCN","RPL26","RPS28","SALL4","SIX1","SIX5","SLC12A2","SOST","SP7","TBX15","TP63","TWIST2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RECURRENT_OTITIS_MEDIA":{"collection":"C5:HPO","systematicName":"M34709","pmid":"","exactSource":"HP:0000403","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000403","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_OTITIS_MEDIA","geneSymbols":["A2ML1","ACP5","ADA","ADA2","ADAT3","AGR2","ANAPC1","AP3B1","ARHGAP29","ARHGEF38","ATN1","BAP1","BCOR","BLNK","BMP4","BPTF","BTK","C1QB","C4B","CCDC103","CCDC39","CCDC40","CCDC47","CCDC65","CCNO","CD19","CD3D","CD3E","CD3G","CD4","CD79A","CD79B","CDC42BPB","CDH1","CFAP221","CFAP298","CFAP300","CFAP52","CFAP74","CFI","COBLL1","COL11A1","COL2A1","CORO1A","CR2","DDB1","DHCR7","DLG1","DLK1","DLX4","DNAAF1","DNAAF11","DNAAF2","DNAAF3","DNAAF4","DNAAF5","DNAAF6","DNAH1","DNAH11","DNAH5","DNAH9","DNAI1","DNAI2","DNAJB13","DNAL1","DOCK2","DOCK8","DPF2","DPP9","DRC1","ELN","FCGR3A","FGFR3","FLNA","FMR1","FOCAD","FOXJ1","FOXP1","FZD2","GAS2L2","GAS8","GLRA2","GNB2","GNPTAB","GNS","GRHL3","GUSB","H4C3","H4C5","HEPHL1","HYAL1","HYDIN","ICOS","IDS","IDUA","IGHG2","IGHM","IGKC","IGLL1","IKBKB","IKBKG","IL17RA","IL21R","IL2RB","IL6R","IL6ST","IL7R","IRF6","JAGN1","JAK3","KANSL1","KAT6A","KDM6A","KIF15","KMT2A","KMT2D","KMT5B","LBR","LIG1","LRBA","LRRC56","MAGT1","MAP3K7","MAPK1","MCIDAS","MED12","MEG3","MGP","MLXIPL","MNS1","MSX1","NAA10","NBN","NCKAP1L","NECTIN1","NEK10","NFKB2","NFKBIA","NME5","NME8","ODAD1","ODAD2","ODAD3","ODAD4","OFD1","PCYT1A","PDGFRA","PGM1","PHIP","PIK3CD","PIK3CG","PIK3R1","PLCG2","POLR3A","PRKAR1B","PRKCD","PSMB8","PSMD12","PTEN","RAC1","RAC2","RELB","RIC1","RNF2","RNU4ATAC","RPGR","RPL11","RSPH1","RSPH3","RSPH4A","RSPH9","RTL1","SDCCAG8","SETD2","SH3KBP1","SLC35C1","SLC37A4","SMARCD2","SMG9","SPAG1","SPEF2","SRCAP","SRY","STK36","SYK","TAOK1","TBX1","TCF3","TFE3","TLR8","TMCO1","TNFRSF13B","TNFRSF13C","TNRC6B","TP63","TPP2","TRAC","TTC12","UBB","UNC119","USB1","USP26","WAS","WDR26","ZEB2","ZMYND10","ZNF341"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MIXED_HEARING_IMPAIRMENT":{"collection":"C5:HPO","systematicName":"M34711","pmid":"","exactSource":"HP:0000410","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000410","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MIXED_HEARING_IMPAIRMENT","geneSymbols":["ABCC6","AFF4","AMMECR1","ANKH","ARSL","B3GALT6","CDH11","CDK5RAP2","CHD7","COL11A2","DVL1","ELMOD3","ENPP1","EYA1","FAM20C","FBXW7","FGF10","FGFR2","FGFR3","FKBP14","FLNA","FLNB","GDF6","GJA1","GJB2","GJB6","HOXA2","IGBP1","KMT2D","MAN2B1","MAP3K7","PAX1","PORCN","POU3F4","RECQL4","ROBO1","RPS28","SGMS2","SIX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PROTRUDING_EAR":{"collection":"C5:HPO","systematicName":"M34712","pmid":"","exactSource":"HP:0000411","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000411","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROTRUDING_EAR","geneSymbols":["AARS1","ADNP","AHDC1","ALDH18A1","ANKRD11","ANTXR1","AP1S2","APC","ARX","ATP6V1A","B3GALNT2","B3GLCT","B4GAT1","BAZ1B","BCL7B","BICRA","BIN1","BLM","BMP1","BMP4","BSND","BUD23","CAMK2G","CAMTA1","CARS1","CCDC32","CCDC8","CHRNA7","CHST14","CLCF1","CLCNKA","CLCNKB","CLIP2","CLTC","COL2A1","COL3A1","COL4A1","COL6A1","COL6A2","COL6A3","CREBBP","CRPPA","CUL7","DAG1","DCAF17","DHX37","DLX4","DNAJC30","DOCK6","DPP6","DSE","DYRK1A","EDEM3","EDNRA","EIF4A3","EIF4H","ELN","ERCC2","ERCC3","EXT1","EYA1","FAM20C","FBLN5","FBN1","FBXL4","FGFR1","FIBP","FIG4","FKBP6","FKRP","FKTN","FLNA","FMR1","FN1","FOXG1","FRMD4A","GABRA3","GJA1","GJA5","GJA8","GJB3","GJB4","GTF2E2","GTF2H5","GTF2I","GTF2IRD1","GTF2IRD2","GTPBP2","H19","HEATR3","HNRNPK","HUWE1","IFT122","IGF2","INSR","INTS1","JARID2","KANSL1","KCNK9","KCTD1","KDM5C","KDM6A","KDSR","KIF11","KMT2D","KNSTRN","LARGE1","LGI4","LIG4","LIMK1","LMNB1","LRP4","MAB21L1","MAPK8IP3","MBD5","MBTPS2","MED12","MEGF8","METTL27","MLXIPL","MPLKIP","MYH3","MYMX","NAA10","NALCN","NCF1","NDP","NDST1","NECTIN1","NEK1","NF1","NHS","NKAP","NR2F1","NSD2","NSRP1","NSUN2","OBSL1","OCRL","OTUD6B","PACS1","PAX1","PGM2L1","PIEZO2","PIK3CD","PLK4","POLA1","POMGNT1","POMGNT2","POMK","POMT1","POMT2","POU3F3","PPP1R12A","PQBP1","PRUNE1","PTPN11","PUS7","PYCR1","PYCR2","RAD21","RB1","RFC2","RFX7","RNF113A","RPL10","RPS6KA3","RXYLT1","RYR1","SCARF2","SH3PXD2B","SHANK3","SIN3A","SKI","SLC1A4","SMC5","SMPD4","SON","SPEG","SPOP","SPTBN1","SRCAP","STX1A","TAF1","TARS1","TASP1","TBL2","TBX22","TBX4","TET3","TFAP2B","TMEM270","TNNI2","TNNT3","TP53RK","TP63","TPM2","TRAIP","TRMT1","TRPS1","TTC26","TTN","TUBGCP2","TUBGCP4","TUBGCP6","TXNL4A","UBA2","UPF3B","VPS37D","WDR19","WNT4","WNT7A","ZDHHC9","ZNF407","ZNF462"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ATRESIA_OF_THE_EXTERNAL_AUDITORY_CANAL":{"collection":"C5:HPO","systematicName":"M34713","pmid":"","exactSource":"HP:0000413","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000413","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ATRESIA_OF_THE_EXTERNAL_AUDITORY_CANAL","geneSymbols":["ATP6V1B2","BRD4","CDC45","CDC6","CDT1","DCHS1","DDR2","EFTUD2","ERBB3","EYA1","FAT4","FGFR2","FKRP","FKTN","FRAS1","FREM2","GLI3","GMNN","GPRASP2","GRIP1","GSC","HDAC8","HOXA2","KIF15","KMT2D","LARGE1","NIPBL","NOTCH3","ORC1","ORC4","ORC6","PAX1","POMT1","POMT2","RAD21","RPL11","RPL26","RPS26","SF3B2","SF3B4","SIX1","SIX5","SMC1A","SMC3","SMCHD1","SNRPB","STAG2","TBC1D24","TCOF1","TP63","TSHZ1","TSR2","TWIST2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BULBOUS_NOSE":{"collection":"C5:HPO","systematicName":"M34714","pmid":"","exactSource":"HP:0000414","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000414","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BULBOUS_NOSE","geneSymbols":["ABCA5","ACTL6B","AFF3","AGO1","ALDH1A2","ALDH6A1","ALG3","AP4B1","AP4E1","AP4M1","AP4S1","ARVCF","ASXL3","ATN1","ATP6V1A","ATP6V1B2","BICRA","BRAF","C2CD3","CAMTA1","CCDC47","CCDC8","CCNQ","CDC42","CDH11","CDK13","CDK19","CEP55","CEP57","CIT","CLCN3","CLIC2","CLP1","CLPB","COL11A2","COL18A1","COL1A2","COMT","CPLX1","CPT2","CSF1R","CUL4B","CUL7","CUX1","DDX3X","DGCR2","DGCR6","DGCR8","DLX4","DOCK6","DOCK7","DYNC1I2","DYRK1A","EBP","ECE1","ECEL1","EDEM3","EFEMP2","EIF5A","ESS2","EXT1","EXT2","EXTL3","FBN1","FBXL3","FBXO31","FMR1","FOXG1","FRA10AC1","FREM1","GJA5","GJA8","GP1BB","H4C5","HECW2","HIRA","HK1","HUWE1","INTS1","JAG1","JARID2","JMJD1C","KANSL1","KAT5","KAT6B","KATNB1","KCNH1","KCNJ2","KCNJ5","KCNMA1","KCNN3","KDM4B","KDM5B","KIF15","KIFBP","KMT2A","KMT2B","KMT2D","LMX1B","LTBP3","MAN1B1","MAP3K7","MBD5","MED12","MED12L","MED13L","MESD","MIPEP","MMP2","MPDZ","MRAS","MTX2","MYO18B","NANS","NHEJ1","OBSL1","ODC1","PACS1","PGAP2","PGAP3","PGM2L1","PIGL","PIGO","PIGV","PIGW","PIGY","POR","POU4F1","PQBP1","PYCR1","PYCR2","QRICH1","RAD21","RBMX","RERE","RNU4ATAC","RREB1","RUSC2","SATB2","SC5D","SCYL2","SEC24C","SETD5","SHANK3","SIM1","SLC25A46","SLC35C1","SLX4","SMARCA2","SMARCAL1","SMARCD1","SMC3","SMC5","SMG8","SMPD4","SMS","SNIP1","SNX14","SOX5","SPEN","SPOP","SPRTN","SPTBN1","SRCAP","SRD5A3","STAG2","STXBP1","TAF1","TBC1D23","TBC1D24","TBCK","TBX1","TBX4","TCF20","TMEM231","TONSL","TRIO","TRPM3","TRPS1","TRRAP","TUBGCP2","TWIST2","UFD1","UNC80","USP9X","WAC","WDR62","YY1","ZMYM2","ZNF292"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_CHOANAE":{"collection":"C5:HPO","systematicName":"M34715","pmid":"","exactSource":"HP:0000415","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000415","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_CHOANAE","geneSymbols":["ADGRG1","ANTXR1","ARID1B","ARVCF","ASXL3","BCR","BRCA1","BRCA2","BRD4","BRIP1","BUB1","CDC45","CDH1","CDON","CEP55","CHD7","COMT","CRKL","DCHS1","DHCR7","DHODH","DISP1","DLL1","EFTUD2","EPCAM","ERCC4","ERF","FAM20C","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FAT4","FGF10","FGF8","FGFR1","FGFR2","FGFR3","FOXE1","FOXH1","FRAS1","GAS1","GLI2","GLI3","GLIS3","GP1BB","GRIN2B","HDAC8","HIRA","IGBP1","IRF6","ITCH","JMJD1C","KMT2D","LMNA","MAD2L2","MAPK1","MBTPS2","MED12","MSL3","NBN","NFIX","NIPBL","NODAL","OFD1","PAICS","PALB2","PERCC1","PI4KA","POLR1A","POLR1B","POLR1C","POLR1D","POR","PTCH1","PTDSS1","PTH1R","PTPN14","RAD21","RAD51","RAD51C","RECQL4","RERE","RFWD3","RPL11","RPS26","RREB1","SALL1","SALL4","SCARF2","SEC24C","SEMA3E","SETBP1","SHH","SIX3","SLC12A2","SLC37A4","SLX4","SMC1A","SMC3","SMCHD1","SOST","SPINT2","SRPX2","SUFU","TBX1","TCOF1","TCTN3","TDGF1","TGIF1","TP63","TWIST1","TXNL4A","UBE2T","UFD1","USP9X","WAC","WBP11","WNT3","XRCC2","ZIC2","ZMPSTE24","ZNF335"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NARROW_NASAL_RIDGE":{"collection":"C5:HPO","systematicName":"M34716","pmid":"","exactSource":"HP:0000418","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000418","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NARROW_NASAL_RIDGE","geneSymbols":["ADAT3","ALDH18A1","CAV1","CEP55","CLCN3","COL3A1","FBN1","FOCAD","HNRNPH1","HRAS","LMNA","MTX2","NRAS","POLR3A","PYCR1","RECQL","SMARCA2","WDR73","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_NASAL_SEPTUM_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M34717","pmid":"","exactSource":"HP:0000419","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000419","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_NASAL_SEPTUM_MORPHOLOGY","geneSymbols":["ARSL","ATP6V1B2","CREBBP","EP300","EXOSC5","FGFR2","FLNB","IRF6","MSX1","MYMX","NECTIN1","NF1","NOG","NONO","PAH","PTCH1","RPS6KA3","SIX3","STING1","TFAP2A","TGIF1","TP63","UBA1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_EPISTAXIS":{"collection":"C5:HPO","systematicName":"M34718","pmid":"","exactSource":"HP:0000421","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000421","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EPISTAXIS","geneSymbols":["ACTN1","ACVRL1","ATP8B1","BCOR","BLOC1S3","BLOC1S5","CACNA1D","CDC42BPB","CEBPE","CLCN2","CTLA4","CYP11B1","CYP11B2","DTNBP1","ENG","EPHB4","EPOR","ETV6","F10","F11","F13A1","F13B","F2","F5","F7","F8","FCGR2C","FERMT3","FGA","FGB","FGG","FIP1L1","FYB1","GATA1","GBA1","GDF2","GFI1B","GGCX","GIMAP5","GP1BA","GP1BB","GP6","GP9","HLA-B","HLA-DPA1","HLA-DPB1","HLA-DRB1","HMOX1","HPS1","HPS3","HPS4","HPS5","HPS6","IFNG","IRF2BP2","ITGA2B","ITGB3","JAK2","KCNJ5","LMAN1","LMX1B","LYST","MCFD2","MPL","MYD88","MYH9","NABP1","NBEAL2","NPM1","NUMA1","P2RY12","P4HA2","PLAU","PML","PRF1","PRKACG","PRKAR1A","PRTN3","PTPN22","RARA","RASA1","RASGRP2","RUNX1","SBDS","SERPINE1","SLC37A4","SLFN14","SMAD4","SRC","STAT3","STAT5B","STIM1","STXBP1","TBL1XR1","TBXA2R","TERC","TERT","TET2","VWF","WAS","WIPF1","ZBTB16"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_NASAL_BRIDGE_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M34719","pmid":"","exactSource":"HP:0000422","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000422","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_NASAL_BRIDGE_MORPHOLOGY","geneSymbols":["ABCA4","ABCC9","ACAN","ACOX1","ACSL4","ACTB","ACTG1","ACTG2","ACY1","ADA2","ADAMTS10","ADAMTS2","ADAMTS3","ADAMTSL1","ADAMTSL2","ADAT3","ADGRG6","ADNP","AFF2","AGA","AGBL5","AGL","AGO1","AGO2","AHDC1","AHI1","AHR","AIFM1","AKT1","AKT3","ALDH6A1","ALG12","ALG2","ALG3","ALG9","ALX1","ALX3","ALX4","AMER1","AMMECR1","ANK1","ANKH","ANKRD11","ANTXR1","AP2M1","AP3B1","AP4B1","AP4E1","AP4S1","APC2","ARHGEF18","ARID1A","ARID1B","ARID2","ARL13B","ARL2BP","ARL3","ARL6","ARMC9","ARSB","ARSK","ARSL","ARVCF","ARX","ASH1L","ASPH","ASXL1","ASXL3","ATAD3A","ATIC","ATP6V0A2","ATP6V1A","ATP6V1B2","ATPAF2","ATRX","AUTS2","B3GALT6","B3GAT3","B3GLCT","B4GALT1","B4GALT7","B9D1","B9D2","BAZ1B","BBIP1","BBS1","BBS10","BBS12","BBS2","BBS4","BBS5","BBS7","BBS9","BCAS3","BCL7B","BCOR","BCR","BEST1","BICRA","BLTP1","BMP2","BMPER","BMPR1A","BMPR1B","BPNT2","BPTF","BRAF","BRCA1","BRD4","BRF1","BRPF1","BUB1B","BUD23","CA4","CACNA1C","CAMKMT","CAMSAP1","CANT1","CASK","CASZ1","CBL","CBY1","CC2D2A","CCBE1","CCDC22","CCND2","CCNK","CCNQ","CD96","CDC42","CDC42BPB","CDCA7","CDH11","CDH2","CDHR1","CDK10","CDK13","CDKL5","CDKN1C","CDON","CENPF","CEP104","CEP120","CEP152","CEP19","CEP290","CEP41","CEP57","CERKL","CFAP418","CHD2","CHD3","CHD5","CHD7","CHD8","CHN1","CHST3","CILK1","CKAP2L","CLIC2","CLIP2","CLP1","CLRN1","CNGA1","CNGB1","CNOT1","COG1","COG4","COG5","COG8","COL11A1","COL11A2","COL18A1","COL1A1","COL1A2","COL27A1","COL2A1","COL3A1","COL9A3","COLEC11","COMT","COX4I1","COX7B","CPLANE1","CPLX1","CRB1","CREBBP","CRIPT","CRKL","CRLF1","CRX","CSGALNACT1","CSNK2A1","CSPP1","CTBP1","CTNND2","CTSD","CTU2","CUL4B","CUL7","DCAF17","DCHS1","DDB1","DDR2","DDX3X","DEAF1","DHCR24","DHCR7","DHDDS","DHPS","DHX30","DHX38","DICER1","DIS3L2","DISP1","DLK1","DLL1","DLL3","DMXL2","DNAJC30","DNMT3B","DOCK6","DOCK7","DOK7","DPF2","DPH1","DPH2","DPH5","DPM1","DPYD","DPYSL5","DUOX2","DUOXA2","DUSP6","DVL1","DVL3","DYNC2H1","DYNC2I1","DYNC2I2","DYNC2LI1","DYRK1A","EBF3","EBP","ECE1","EDA","EDAR","EDARADD","EDEM3","EDN3","EDNRA","EDNRB","EED","EEF1A2","EFEMP2","EFNB1","EIF2AK3","EIF4H","ELN","EP300","EPG5","ERCC1","ERCC2","ERCC5","ERCC6","ERF","ESCO2","ETFA","ETFB","ETFDH","EXOC2","EXOSC1","EXOSC5","EXT1","EXT2","EXTL3","EYA1","EYS","EZH2","FAM149B1","FAM161A","FAM20C","FANCL","FAR1","FAT4","FBN1","FBXL3","FBXO28","FBXO31","FDFT1","FGD1","FGF17","FGF3","FGF8","FGFR1","FGFR2","FGFR3","FGFRL1","FH","FKBP6","FLI1","FLII","FLNA","FLNB","FOCAD","FOXC1","FOXG1","FOXH1","FOXL2","FRAS1","FREM1","FREM2","FRMPD4","FSCN2","FTSJ1","FUCA1","FUT8","FZD2","G6PC3","GABRD","GAD1","GALNT2","GAS1","GATA1","GATA4","GATAD2B","GBA1","GDF5","GHR","GJA1","GJA5","GJA8","GLB1","GLI2","GLI3","GLIS3","GLUL","GMNN","GNAO1","GNAS","GNB2","GNE","GNPAT","GNPTAB","GNRH1","GNRHR","GNS","GOLGA2","GP1BB","GPC3","GPC4","GPC6","GPRASP2","GPX4","GRIN1","GRIP1","GRM7","GTF2I","GTF2IRD1","GTF2IRD2","GTPBP2","GUCA1B","H3-3A","H4C11","H4C5","H4C9","HBA1","HBA2","HBB","HCCS","HDAC4","HDAC8","HEATR3","HECTD4","HECW2","HELLS","HEPACAM","HERC1","HERC2","HES7","HESX1","HGSNAT","HIRA","HIVEP2","HMGA2","HNRNPK","HNRNPR","HOXB1","HRAS","HS2ST1","HS6ST1","HSD17B4","HSPG2","HUWE1","HYAL1","HYLS1","HYOU1","IARS2","IDH3A","IDH3B","IDS","IDUA","IFT122","IFT140","IFT172","IFT27","IFT52","IFT57","IFT74","IFT80","IFT81","IFT88","IGBP1","IGF1R","IL11RA","IL6ST","IMPDH1","IMPG1","IMPG2","INPP5E","INPPL1","INSR","INTS1","INTU","IPO8","IQSEC2","IRX5","IYD","JAG1","JARID2","JMJD1C","KANSL1","KAT5","KAT6A","KAT6B","KAT8","KATNB1","KATNIP","KCNA1","KCNAB2","KCNE5","KCNH1","KCNJ2","KCNJ5","KCNJ6","KCNJ8","KCNK9","KCNMA1","KCNN3","KCTD1","KDM1A","KDM4B","KDM5B","KDM5C","KDM6A","KDM6B","KIAA0586","KIAA0753","KIAA1549","KIF11","KIF14","KIF21A","KIF7","KIFBP","KISS1","KISS1R","KIT","KIZ","KLHL7","KMT2A","KMT2D","KMT5B","KNSTRN","KPTN","KRAS","KREMEN1","KYNU","LAMA5","LARP7","LBR","LEMD3","LETM1","LFNG","LHX3","LHX4","LIG4","LIMK1","LINS1","LMNA","LMNB1","LONP1","LRAT","LRP2","LRPPRC","LTBP1","LTBP3","LTBP4","LUZP1","LZTFL1","MACF1","MADD","MAF","MAFB","MAGEL2","MAK","MAN1B1","MAN2B1","MAP2K1","MAP2K2","MAP3K7","MAPK1","MAPK8IP3","MAPRE2","MARS2","MDH1","MDM2","MECP2","MED12","MED12L","MED13","MED13L","MED27","MEF2C","MEG3","MEGF8","MEIS2","MERTK","MESP2","METTL23","METTL27","MGAT2","MGP","MIA3","MID1","MINPP1","MIPEP","MITF","MKKS","MKRN3","MKS1","MLXIPL","MMP2","MMP23B","MN1","MRAS","MRPS14","MTHFR","MTOR","MTX2","MUSK","MYCN","MYH3","MYMK","MYOD1","MYRF","MYT1L","NAA10","NAGA","NALCN","NANS","NBN","NCF1","NDE1","NDP","NDUFB11","NECTIN1","NEK1","NEK2","NELFA","NEPRO","NEU1","NEUROD2","NEXMIF","NF1","NFASC","NFIB","NFIX","NHLH2","NHS","NIPBL","NMNAT1","NODAL","NOG","NONO","NOTCH2","NOTCH3","NPAP1","NPHP1","NPR2","NR2E3","NR2F1","NRAS","NRCAM","NRL","NSD1","NSD2","NSDHL","NSMCE3","NSMF","NSRP1","NSUN2","NUDT2","NUP188","NUP88","NXN","OBSL1","OFD1","OPHN1","ORC6","OTUD6B","P4HTM","PACS2","PAH","PAICS","PAK2","PAK3","PAM16","PARS2","PAX1","PAX3","PBX1","PCARE","PCDHGC4","PCLO","PCNT","PDE4D","PDE6A","PDE6B","PDE6D","PDE6G","PDGFRB","PDHA1","PDPN","PEPD","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PEX7","PGAP1","PGAP2","PGAP3","PGM2L1","PHF21A","PIBF1","PIEZO2","PIGA","PIGB","PIGG","PIGL","PIGN","PIGO","PIGP","PIGQ","PIGT","PIGU","PIGV","PIGW","PIGY","PIK3C2A","PIK3CA","PIK3CD","PIK3R1","PIK3R2","PITX1","PITX2","PKDCC","PLCB3","PLK4","PLOD1","PLXNA1","PMM2","PNKP","POGZ","POLA1","POLE","POLG2","POLR1A","POLR1B","POLR1C","POLR1D","POLR3A","POLRMT","POMGNT1","POR","PORCN","POU1F1","PPM1B","PPP1R21","PQBP1","PRCD","PRDM16","PREPL","PRIM1","PRKAR1A","PRKAR1B","PRKCZ","PRKD1","PRKDC","PRKG2","PRMT7","PROK2","PROKR2","PROM1","PROP1","PRPF3","PRPF31","PRPF4","PRPF6","PRPF8","PRPH2","PRPS1","PSAT1","PSMC1","PSMD12","PTCH1","PTCH2","PTEN","PTH1R","PTPN11","PUF60","PUM1","PURA","PUS7","PWAR1","PWRN1","QARS1","RAB18","RAB23","RAB3GAP1","RAB3GAP2","RAC1","RAC3","RAD21","RAF1","RAI1","RALA","RALGAPA1","RAPSN","RARB","RARS2","RB1","RBL2","RBM10","RBP3","RDH12","RECQL","RECQL4","REEP6","RELN","RERE","RFC2","RFX7","RGR","RHO","RHOA","RHOBTB2","RIN2","RIPK4","RIPPLY2","RLBP1","RLIM","RMRP","RNF13","RNF2","RNU4ATAC","ROM1","ROR2","RP1","RP1L1","RP2","RP9","RPE65","RPGR","RPGRIP1L","RPL10","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS23","RPS24","RPS26","RPS27","RPS28","RPS29","RPS6KA3","RPS7","RREB1","RSPRY1","RSRC1","RTL1","RTTN","RUNX2","RYR1","RYR3","SAG","SALL4","SATB2","SC5D","SCAPER","SCARF2","SCLT1","SCN1A","SCN1B","SCN2A","SCN4A","SCNM1","SCO2","SCUBE3","SCYL2","SDCCAG8","SEC23A","SEC24C","SEMA3E","SEMA4A","SEMA5A","SEPTIN9","SET","SETBP1","SETD2","SETD5","SF3B4","SH2B1","SH3PXD2B","SHANK3","SHH","SHOX","SHROOM4","SIK1","SIM1","SIN3A","SIX2","SIX3","SKI","SKIC2","SKIC3","SLC12A6","SLC18A3","SLC1A4","SLC25A22","SLC25A24","SLC26A2","SLC2A1","SLC32A1","SLC35A2","SLC35C1","SLC39A13","SLC3A1","SLC45A1","SLC5A5","SLC6A1","SLC6A9","SLC7A14","SMAD4","SMARCA2","SMARCA4","SMARCAL1","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SMC1A","SMC3","SMG9","SMO","SMOC1","SMPD4","SMS","SNAI2","SNAP29","SNORD115-1","SNORD116-1","SNRNP200","SNRPN","SNX14","SON","SOS1","SOST","SOX10","SOX11","SOX18","SOX4","SOX5","SOX6","SOX9","SP7","SPATA5","SPATA5L1","SPATA7","SPECC1L","SPEN","SPOP","SPRED2","SPRTN","SPRY4","SPTBN1","SRCAP","SRD5A3","STAG1","STAG2","STAT3","STRA6","STRADA","STT3A","STX16","STX1A","SUFU","SUMF1","SUPT16H","SVBP","SYNE1","SYNGAP1","TAC3","TACR3","TAF1","TAF6","TALDO1","TAOK1","TAPT1","TASP1","TBC1D20","TBC1D24","TBCE","TBCK","TBL2","TBX1","TBX2","TBX4","TBX6","TCF20","TCF3","TCF4","TCOF1","TCTN1","TCTN2","TCTN3","TDGF1","TENT5A","TFAP2A","TFAP2B","TFE3","TG","TGFB3","TGIF1","THSD1","TLK2","TMCO1","TMEM107","TMEM138","TMEM147","TMEM216","TMEM218","TMEM231","TMEM237","TMEM270","TMEM53","TMEM67","TMEM70","TMEM94","TNNI2","TNNT3","TNPO2","TOE1","TOGARAM1","TONSL","TOPORS","TOR1A","TP63","TPM2","TPO","TPR","TRAPPC9","TRIM32","TRIM37","TRIM8","TRIO","TRIP11","TRIP12","TRMT1","TRPM3","TRPS1","TRPV4","TRPV6","TRRAP","TSHB","TSR2","TTC26","TTC8","TUB","TUBA1A","TUBB","TUBGCP4","TUBGCP6","TULP1","TWIST1","TWIST2","TXNL4A","UBE2A","UBE3B","UBE4B","UFD1","UGP2","UMPS","UNC80","UPF3B","UQCC2","USB1","USH2A","USP9X","VANGL2","VARS1","VDR","VPS13B","VPS33A","VPS35L","VPS37D","WAC","WARS1","WARS2","WASHC5","WDPCP","WDR11","WDR19","WDR26","WDR35","WDR37","WDR4","WLS","WNT5A","WNT7A","XRCC4","XYLT1","YARS1","ZBTB18","ZBTB20","ZBTB24","ZDHHC9","ZEB2","ZIC2","ZMIZ1","ZMPSTE24","ZMYM2","ZNF292","ZNF335","ZNF408","ZNF423","ZNF513","ZNF526","ZNF699","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PROMINENT_NASAL_BRIDGE":{"collection":"C5:HPO","systematicName":"M34720","pmid":"","exactSource":"HP:0000426","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000426","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROMINENT_NASAL_BRIDGE","geneSymbols":["ACTG2","AFF2","AHI1","ALG12","ALX4","ANKRD11","ARL13B","ARL3","ARL6","ARMC9","ARVCF","ARX","ASH1L","ASPH","ASXL3","ATIC","ATPAF2","B9D1","B9D2","BBIP1","BBS1","BBS10","BBS12","BBS2","BBS4","BBS5","BBS7","BBS9","BCOR","BCR","BICRA","BRCA1","CASK","CBY1","CC2D2A","CDC42BPB","CDK13","CENPF","CEP104","CEP120","CEP152","CEP19","CEP290","CEP41","CFAP418","CHD5","CKAP2L","CLIC2","COLEC11","COMT","COX4I1","CPLANE1","CRKL","CSPP1","DCAF17","DHPS","DOCK7","DYRK1A","EBF3","EBP","ECE1","EDN3","EDNRB","ERCC1","ERCC6","EXOSC5","EXT2","FAM149B1","FBN1","FGFR2","FGFR3","GALNT2","GATA4","GJA5","GJA8","GP1BB","GPC4","H4C9","HDAC8","HERC1","HIRA","HIVEP2","HMGA2","HNRNPK","HSPG2","HYLS1","IFT172","IFT27","IFT57","IFT74","IGBP1","INPP5E","INSR","IPO8","JMJD1C","KANSL1","KAT6A","KAT6B","KAT8","KATNIP","KDM5B","KDM5C","KDM6B","KIAA0586","KIAA0753","KIF7","KIFBP","LEMD3","LMNB1","LZTFL1","MAPK1","MAPK8IP3","MECP2","MED12","MED12L","MED13","MEIS2","MGAT2","MIA3","MITF","MKKS","MKS1","NALCN","NBN","NDE1","NEXMIF","NFASC","NHS","NONO","NPHP1","NR2F1","NSDHL","NSUN2","OFD1","ORC6","OTUD6B","PAK3","PAX3","PCDHGC4","PCNT","PDE6D","PDGFRB","PGAP2","PGAP3","PHF21A","PIBF1","PIGL","PIGO","PIGV","PIGW","PIGY","PMM2","POLR1A","PRKD1","RAB3GAP2","RAC1","RARS2","RB1","RECQL","RECQL4","RELN","RLIM","RPGRIP1L","RREB1","RTTN","SATB2","SCAPER","SCLT1","SCUBE3","SDCCAG8","SEC23A","SEC24C","SF3B4","SH2B1","SIN3A","SMAD4","SMC1A","SMC3","SMS","SNAP29","SOX10","SOX18","SPECC1L","SPEN","SPOP","SPRED2","SPRTN","SRCAP","STAG1","SUFU","TAF6","TBC1D20","TBCK","TBX1","TCF4","TCTN1","TCTN2","TCTN3","TGFB3","TLK2","TMEM138","TMEM216","TMEM218","TMEM231","TMEM237","TMEM67","TNPO2","TOGARAM1","TOPORS","TP63","TRIM32","TRIO","TRRAP","TTC8","TWIST1","TXNL4A","UFD1","UNC80","UPF3B","VPS13B","WARS1","WDPCP","WDR37","XRCC4","ZDHHC9","ZMIZ1","ZNF335","ZNF423","ZNF526","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_MORPHOLOGY_OF_THE_NASAL_ALAE":{"collection":"C5:HPO","systematicName":"M34721","pmid":"","exactSource":"HP:0000429","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000429","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MORPHOLOGY_OF_THE_NASAL_ALAE","geneSymbols":["ABCA4","ABCA5","ABCC8","ABCC9","ACSL4","ACTB","ACTG2","ADAMTS3","ADAMTSL2","ADGRG6","ADNP","ADSL","AFF4","AGA","AGBL5","AHI1","AHR","AIFM1","AIMP2","AKT1","ALDH6A1","ALG13","ALG9","ALX1","ALX4","AMMECR1","ANKRD11","ANKRD17","ANTXR1","AP2M1","ARHGEF18","ARID1A","ARID1B","ARID2","ARL13B","ARL2BP","ARL3","ARL6","ARMC9","ARSL","ARX","ASH1L","ASXL1","ASXL3","ATAD3A","ATIC","ATP6V0A2","ATP6V1A","ATP6V1B2","ATP6V1E1","ATRX","AUTS2","B3GALT6","B3GLCT","B9D1","B9D2","BAP1","BBS1","BBS2","BCL11A","BCR","BEST1","BICRA","BLTP1","BMP2","BRAF","BRCA1","BRCC3","BRD4","BRF1","BUB1B","CA4","CACNA1B","CAMTA1","CANT1","CASK","CBL","CBY1","CC2D2A","CCDC8","CCNK","CD96","CDC42","CDC42BPB","CDH11","CDHR1","CDKL5","CDON","CENPJ","CEP104","CEP120","CEP290","CEP41","CEP55","CERKL","CERT1","CFAP418","CHD2","CHMP1A","CHN1","CKAP2L","CLCF1","CLP1","CLRN1","CNGA1","CNGB1","CNOT2","CNOT3","COG1","COL11A1","COL11A2","COL27A1","COL2A1","COL3A1","CPLANE1","CPSF3","CRB1","CREBBP","CRIPT","CRKL","CRLF1","CRX","CSGALNACT1","CSNK2A1","CSPP1","CTCF","CTNNB1","CUL7","CWC27","DDB1","DDB2","DDR2","DDX3X","DEAF1","DGCR2","DGCR6","DGCR8","DHCR24","DHCR7","DHDDS","DHX37","DHX38","DICER1","DIS3L2","DISP1","DLK1","DLL1","DLL3","DMXL2","DNMT3A","DNMT3B","DOCK3","DOCK7","DPF2","DPYD","DVL1","DVL3","DYNC1I2","DYRK1A","EBF3","ECEL1","EDA","EDEM3","EDN3","EDNRB","EFTUD2","EHMT1","EIF5A","ELN","ERCC2","ERCC3","ERCC4","ERCC5","ERF","ESCO2","ESS2","EXOSC1","EXOSC2","EXT1","EXT2","EXTL3","EYA1","EYS","FAM149B1","FAM161A","FAM20C","FBN1","FBXO31","FGD1","FGF3","FGF8","FGFR1","FGFR2","FGFR3","FH","FIG4","FLI1","FLII","FLNB","FOXH1","FRAS1","FREM2","FRMD4A","FSCN2","FTO","FZD2","GAD1","GAS1","GBA1","GDF11","GJA1","GJA5","GJA8","GLI2","GLI3","GLUL","GMNN","GNAI1","GNAO1","GNPAT","GNPTAB","GNS","GPAA1","GPC3","GPC4","GPC6","GRIN1","GRIP1","GRM7","GUCA1B","H3-3A","H4C5","HDAC4","HDAC8","HECW2","HES7","HGSNAT","HIC1","HIVEP2","HK1","HNRNPH2","HNRNPK","HOXB1","HPDL","HRAS","HYLS1","IARS2","IDH3A","IDH3B","IDUA","IER3IP1","IFT122","IFT140","IFT172","IFT43","IFT52","IFT74","IFT88","IL6ST","IMPDH1","IMPG1","IMPG2","INPP5E","INPPL1","INSR","IQSEC2","IRX5","KANSL1","KATNB1","KATNIP","KCNA1","KCNE5","KCNH1","KCNJ11","KCNJ6","KCNJ8","KCTD1","KDM1A","KDM4B","KIAA0586","KIAA0753","KIAA1549","KIF11","KIF14","KIF15","KIF1A","KIZ","KLHL15","KLHL7","KMT2D","KNSTRN","KRAS","LFNG","LIFR","LMBR1","LMBRD2","LONP1","LRAT","LRPPRC","LTBP3","MAB21L1","MADD","MAFB","MAK","MAP2K1","MAP2K2","MAP3K7","MAPK1","MAPK8IP3","MARS2","MECP2","MED12","MED12L","MED25","MED27","MEF2C","MEG3","MEGF8","MERTK","MESP2","METTL23","MGP","MICU1","MID1","MIPEP","MITF","MKS1","MLXIPL","MN1","MPLKIP","MSL3","MTX2","MVK","MYCN","MYH3","MYMK","MYMX","MYO18B","NAA10","NALCN","NARS2","NEDD4L","NEK2","NEUROD2","NEXMIF","NF1","NFIA","NFIB","NFIX","NGLY1","NIPBL","NODAL","NOG","NOTCH2","NOVA2","NPHP1","NR2E3","NR2F1","NRAS","NRL","NSD1","NSRP1","NSUN2","NXN","OBSL1","OCLN","OFD1","ORC4","PAFAH1B1","PAH","PAICS","PAK3","PAM16","PARS2","PAX1","PAX3","PBX1","PCARE","PCNT","PDE4D","PDE6A","PDE6B","PDE6D","PDE6G","PDHA1","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PHF21A","PHIP","PIBF1","PIEZO2","PIGA","PIGF","PIGN","PIGP","PIGQ","PIGT","PIGY","PIK3C2A","PIK3CD","PIK3R1","PLCB3","PLCH1","PLEC","PLK4","PLOD3","PMM2","PNKP","POLG2","POLR3A","POLRMT","POMGNT1","PORCN","POU1F1","POU4F1","PPM1D","PPP1CB","PPP1R15B","PPP1R21","PPP2R1A","PPP2R3C","PRCD","PRKAR1A","PRKD1","PRMT7","PROM1","PRPF3","PRPF31","PRPF4","PRPF6","PRPF8","PRPH2","PRPS1","PTCH1","PTEN","PTH1R","PTPRF","PUF60","PURA","PUS7","PYCR1","PYCR2","RAB18","RAB3GAP1","RAB3GAP2","RAC1","RAC3","RAD21","RAI1","RALA","RALGAPA1","RBM10","RBM8A","RBP3","RDH11","RDH12","RECQL","RECQL4","REEP6","RERE","RGR","RHO","RHOA","RHOBTB2","RIC1","RIPK4","RIPPLY2","RLBP1","RMRP","RNF125","RNF2","RNU4ATAC","ROM1","ROR2","RP1","RP1L1","RP2","RP9","RPE65","RPGR","RPGRIP1L","RPS6KA3","RTL1","SAG","SALL4","SATB2","SC5D","SCAPER","SCARF2","SCN1A","SCN1B","SCN2A","SCNM1","SEC23A","SEMA4A","SETBP1","SETD1A","SETD5","SH3PXD2B","SHH","SHOC2","SIK1","SIM1","SIN3A","SIX3","SKI","SKIC3","SLC17A5","SLC25A22","SLC25A46","SLC26A2","SLC29A3","SLC2A1","SLC32A1","SLC37A4","SLC6A1","SLC6A9","SLC7A14","SMARCA2","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SMC1A","SMC3","SMG9","SMOC1","SMS","SNRNP200","SNRPN","SNX14","SOX10","SOX11","SOX4","SPATA5","SPATA7","SPECC1L","SPEN","SPOP","SPTBN1","SRCAP","SUFU","SUMF1","SYNGAP1","TAF1","TAF6","TAPT1","TBC1D20","TBC1D24","TBCK","TBX1","TBX6","TCF4","TCTN1","TCTN2","TCTN3","TDGF1","TGIF1","TMCO1","TMEM138","TMEM216","TMEM218","TMEM231","TMEM237","TMEM53","TMEM67","TMEM70","TMEM94","TMLHE","TOGARAM1","TONSL","TOPORS","TOR1A","TP63","TRIM8","TRIO","TRIP11","TRIP12","TRMT10A","TRPM3","TRPS1","TRPV6","TRRAP","TTC26","TTC8","TUB","TUBGCP4","TUBGCP6","TULP1","TWIST1","TWIST2","TXNDC15","TXNL4A","UBE2A","UBE3B","UBR1","UFC1","UNC80","USB1","USH2A","USP9X","VAC14","VPS35L","VPS51","WDR19","WDR26","WDR35","WDR4","WLS","WNT5A","WWOX","XPA","XPC","XYLT1","YWHAE","ZBTB20","ZBTB24","ZC4H2","ZIC2","ZMYM2","ZNF292","ZNF408","ZNF423","ZNF462","ZNF513","ZNF699","ZNHIT3","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_WIDE_NASAL_BRIDGE":{"collection":"C5:HPO","systematicName":"M34723","pmid":"","exactSource":"HP:0000431","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000431","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WIDE_NASAL_BRIDGE","geneSymbols":["ABCA4","ABCC9","ACOX1","ACTB","ACTG1","ACY1","ADA2","ADAMTS3","ADAMTSL1","ADNP","AGA","AGBL5","AGO1","AGO2","AHI1","AHR","ALG2","ALG3","ALX1","ALX3","ALX4","AMER1","ANKH","AP2M1","AP3B1","AP4B1","AP4E1","AP4S1","APC2","ARHGEF18","ARID1B","ARL2BP","ARL3","ARL6","ARSK","ARVCF","ARX","ASXL1","ASXL3","ATAD3A","ATP6V0A2","ATP6V1A","ATP6V1B2","ATRX","AUTS2","B4GALT1","B4GALT7","BAZ1B","BBS1","BBS2","BCAS3","BCL7B","BEST1","BMP2","BPNT2","BPTF","BRAF","BRF1","BRPF1","BUD23","CA4","CAMSAP1","CASK","CASZ1","CC2D2A","CCBE1","CCDC22","CCNK","CCNQ","CD96","CDC42","CDH11","CDHR1","CDK10","CDK13","CENPF","CERKL","CFAP418","CHD2","CHD3","CHD8","CHN1","CILK1","CKAP2L","CLIP2","CLP1","CLRN1","CNGA1","CNGB1","COG1","COG5","COL11A1","COL27A1","COLEC11","COMT","COX7B","CPLX1","CRB1","CREBBP","CRX","CSNK2A1","CTBP1","CTNND2","CTSD","DCHS1","DDX3X","DEAF1","DHCR7","DHDDS","DHX38","DIS3L2","DLK1","DNAJC30","DPH5","DPYSL5","DVL1","DVL3","EDEM3","EDN3","EDNRA","EDNRB","EED","EFNB1","EIF4H","ELN","EP300","ERCC1","ERCC2","ERCC5","ERCC6","ESCO2","EXOC2","EXT1","EYS","FAM161A","FANCL","FAT4","FBN1","FBXL3","FBXO31","FGD1","FGF3","FGFR1","FGFRL1","FKBP6","FLI1","FLII","FLNA","FLNB","FOXC1","FOXG1","FOXL2","FRAS1","FREM1","FREM2","FRMPD4","FSCN2","FUT8","FZD2","G6PC3","GABRD","GAD1","GATA1","GATA4","GATAD2B","GJA1","GLI3","GLUL","GNE","GNPAT","GP1BB","GPC3","GPC4","GPC6","GPRASP2","GRIP1","GTF2I","GTF2IRD1","GTF2IRD2","GUCA1B","H4C5","HBA1","HBA2","HCCS","HEATR3","HECTD4","HGSNAT","HIRA","HIVEP2","HNRNPK","HNRNPR","HS2ST1","HSPG2","HYOU1","IDH3A","IDH3B","IDS","IDUA","IFT122","IFT140","IFT172","IFT52","IFT57","IFT88","IGF1R","IL6ST","IMPDH1","IMPG1","IMPG2","INTS1","IQSEC2","IRX5","JARID2","JMJD1C","KANSL1","KAT6B","KATNB1","KCNAB2","KCNH1","KCNJ2","KCNJ5","KCNJ8","KCNMA1","KCNN3","KDM1A","KDM4B","KDM6A","KIAA0753","KIAA1549","KIF11","KIF14","KIF7","KIFBP","KIT","KIZ","KLHL7","KMT2A","KMT2D","KMT5B","KNSTRN","KPTN","KRAS","KREMEN1","LARP7","LETM1","LIG4","LIMK1","LMNA","LMNB1","LRAT","LRPPRC","LTBP1","LTBP3","LTBP4","LUZP1","MAF","MAFB","MAK","MAN1B1","MAP3K7","MAPK1","MAPRE2","MARS2","MECP2","MED12","MED13","MED13L","MEG3","MEGF8","MERTK","METTL27","MGP","MID1","MINPP1","MITF","MKS1","MLXIPL","MMP23B","MYCN","MYH3","MYRF","MYT1L","NAA10","NALCN","NCF1","NDE1","NDUFB11","NECTIN1","NEK1","NEK2","NELFA","NEU1","NEXMIF","NFASC","NOG","NOTCH2","NR2E3","NRAS","NRL","NSD2","NSUN2","NUDT2","NUP188","NUP88","NXN","OFD1","OPHN1","OTUD6B","PACS2","PAH","PARS2","PAX1","PAX3","PBX1","PCARE","PCNT","PDE4D","PDE6A","PDE6B","PDE6G","PDGFRB","PDHA1","PDPN","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PGAP2","PGAP3","PIEZO2","PIGB","PIGG","PIGL","PIGN","PIGO","PIGT","PIGV","PIGW","PIGY","PIK3C2A","PIK3CD","PIK3R1","PITX2","PKDCC","PLK4","POLR1A","POLR1B","POLR1C","POLR1D","POMGNT1","PPP1R21","PQBP1","PRCD","PRDM16","PRKAR1A","PRKCZ","PRKDC","PRKG2","PRMT7","PROM1","PRPF3","PRPF31","PRPF4","PRPF6","PRPF8","PRPH2","PSMD12","PTCH1","PTCH2","PTPN11","PUF60","PUM1","PURA","PUS7","QARS1","RAB18","RAB3GAP1","RAB3GAP2","RAC3","RAD21","RAF1","RAI1","RALA","RAPSN","RARB","RB1","RBL2","RBM10","RBP3","RDH12","REEP6","RELN","RERE","RFC2","RFX7","RGR","RHO","RHOA","RIN2","RLBP1","RLIM","RMRP","ROM1","ROR2","RP1","RP1L1","RP2","RP9","RPE65","RPGR","RPL10","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS7","RREB1","RSRC1","RTL1","RTTN","RUNX2","RYR1","SAG","SALL4","SC5D","SCAPER","SCN1A","SCN4A","SCNM1","SEC23A","SEC24C","SEMA4A","SEMA5A","SET","SETD2","SETD5","SH3PXD2B","SHANK3","SHOX","SIN3A","SKI","SKIC2","SKIC3","SLC12A6","SLC1A4","SLC2A1","SLC35A2","SLC35C1","SLC6A1","SLC7A14","SMARCA2","SMARCA4","SMARCAL1","SMG9","SNAI2","SNAP29","SNRNP200","SNX14","SON","SOST","SOX10","SOX18","SOX5","SOX6","SP7","SPATA7","SPECC1L","SPEN","SPTBN1","SRCAP","SRD5A3","STAG2","STAT3","STRA6","STRADA","STT3A","STX1A","SUFU","SUPT16H","SVBP","SYNGAP1","TAPT1","TASP1","TBC1D20","TBC1D24","TBCK","TBL2","TBX1","TBX6","TCF4","TCOF1","TENT5A","TFAP2A","TMCO1","TMEM270","TMEM53","TMEM70","TMEM94","TNNI2","TNNT3","TNPO2","TOE1","TOGARAM1","TOPORS","TOR1A","TP63","TPM2","TPR","TRAPPC9","TRIM37","TRIO","TRMT1","TRPS1","TRPV6","TRRAP","TSR2","TTC8","TUB","TUBGCP4","TUBGCP6","TULP1","TWIST1","TWIST2","TXNL4A","UBE4B","UFD1","UMPS","UNC80","USH2A","USP9X","VDR","VPS33A","VPS35L","VPS37D","WAC","WARS2","WASHC5","WDR19","WDR35","WLS","WNT5A","WNT7A","XRCC4","YARS1","ZBTB20","ZEB2","ZMIZ1","ZMYM2","ZNF408","ZNF513","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_NASAL_MUCOSA_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M34724","pmid":"","exactSource":"HP:0000433","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000433","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_NASAL_MUCOSA_MORPHOLOGY","geneSymbols":["ACVRL1","BTNL2","CCDC103","CCDC39","CCDC40","CCDC65","CCNO","CEACAM3","CEACAM6","CFAP221","CFAP298","CFAP300","CFAP74","CFTR","CLCA4","DCTN4","DNAAF1","DNAAF11","DNAAF2","DNAAF3","DNAAF4","DNAAF5","DNAAF6","DNAH1","DNAH11","DNAH5","DNAH9","DNAI1","DNAI2","DNAJB13","DNAL1","DRC1","ECM1","EDNRA","ENG","FCGR2A","FOXJ1","GAS2L2","GAS8","GCLC","GSTM3","HFE","HLA-DRB1","HMOX1","HYDIN","KCNN4","LRRC56","MCIDAS","MIF","NEK10","NME5","NME8","ODAD1","ODAD2","ODAD3","ODAD4","OFD1","PTGER2","RPGR","RSPH1","RSPH3","RSPH4A","RSPH9","SERPINA1","SLC11A1","SLC26A9","SLC6A14","SLC9A3","SPAG1","SPEF2","STK11","STK36","STX1A","TAP1","TAP2","TAPBP","TBX21","TGFB1","TTC12","UNC119","ZMYND10"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_NASAL_TIP_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M34725","pmid":"","exactSource":"HP:0000436","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000436","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_NASAL_TIP_MORPHOLOGY","geneSymbols":["ABCA5","ABCC9","ACTB","ACTG1","ACTL6B","ADAMTS18","ADNP","AFF3","AGL","AGO1","AIFM1","ALDH1A2","ALDH6A1","ALG3","ALX3","ALX4","AP4B1","AP4E1","AP4M1","AP4S1","APC","ARID1A","ARID1B","ARID2","ARSL","ARVCF","ASNS","ASXL2","ASXL3","ATN1","ATP6V0A2","ATP6V1A","ATP6V1B2","ATP6V1E1","ATRX","AUTS2","BCL11A","BCOR","BICRA","BPTF","BRAF","C2CD3","CAMTA1","CASK","CCDC47","CCDC8","CCNK","CCNQ","CDC42","CDC42BPB","CDH11","CDK10","CDK13","CDK19","CENPJ","CEP55","CEP57","CHD5","CHRNA7","CILK1","CIT","CLCN3","CLIC2","CLP1","CLPB","COG4","COG6","COL11A2","COL18A1","COL1A2","COLEC11","COMT","CPLANE1","CPLX1","CPT2","CSF1R","CSGALNACT1","CTCF","CTNNB1","CUL4B","CUL7","CUX1","DDX3X","DGCR2","DGCR6","DGCR8","DLX4","DOCK6","DOCK7","DPF2","DPYD","DYNC1I2","DYRK1A","EBF3","EBP","ECE1","ECEL1","EDEM3","EFEMP2","EFNB1","EIF2S3","EIF5A","ELN","EPG5","ESS2","EXOC2","EXOSC2","EXT1","EXT2","EXTL3","FAM149B1","FANCL","FBN1","FBXL3","FBXO28","FBXO31","FLCN","FLNA","FLNB","FMR1","FOXG1","FOXP1","FRA10AC1","FREM1","FRMPD4","FZD2","GATAD2B","GJA5","GJA8","GLB1","GP1BB","GPAA1","H4C3","H4C5","HDAC4","HDAC8","HECW2","HIRA","HK1","HNRNPK","HRAS","HS2ST1","HSPA9","HUWE1","IDUA","IGF1R","INTS1","JAG1","JARID2","JMJD1C","KANSL1","KAT5","KAT6A","KAT6B","KATNB1","KCNH1","KCNJ2","KCNJ5","KCNJ6","KCNK9","KCNMA1","KCNN3","KDM1A","KDM3B","KDM4B","KDM5B","KDM6A","KIAA0753","KIF11","KIF15","KIF7","KIFBP","KMT2A","KMT2B","KMT2D","KNSTRN","KPTN","LAS1L","LMNA","LMX1B","LRP2","LTBP1","LTBP3","MADD","MAN1B1","MAP3K7","MAPKAPK5","MBD5","MCTP2","MED12","MED12L","MED13L","MED25","MESD","METTL5","MIPEP","MLXIPL","MMP2","MPDZ","MRAS","MTX2","MUSK","MYCN","MYMK","MYO18B","NAA10","NACC1","NANS","NHEJ1","NRAS","NSD1","NXN","OBSL1","ODC1","OFD1","PACS1","PCGF2","PDE4D","PDE6D","PGAP2","PGAP3","PGM2L1","PHF21A","PHF8","PHIP","PIGL","PIGO","PIGQ","PIGV","PIGW","PIGY","PIK3CD","POC1A","POGZ","POR","PORCN","POU4F1","PPP2CA","PPP3CA","PQBP1","PRIM1","PRKACA","PRKACB","PRKAR1A","PRKAR1B","PRMT7","PTCH1","PTPRF","PUF60","PURA","PYCR1","PYCR2","QRICH1","RAB3GAP1","RAB3GAP2","RAD21","RARB","RBMX","RERE","RFX7","RHOBTB2","RNF135","RNU4ATAC","RPS6KA3","RREB1","RUSC2","RYR1","SATB2","SC5D","SCNM1","SCYL2","SEC24C","SET","SETBP1","SETD2","SETD5","SH3PXD2B","SHANK3","SIM1","SIN3A","SIX2","SLC25A46","SLC35C1","SLX4","SMARCA2","SMARCA4","SMARCAL1","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SMC3","SMC5","SMG8","SMG9","SMPD4","SMS","SNIP1","SNRPN","SNX14","SOX11","SOX4","SOX5","SPEN","SPOP","SPRTN","SPTBN1","SRCAP","SRD5A3","STAG2","STXBP1","SUPT16H","SYT1","TAF1","TBC1D23","TBC1D24","TBCK","TBL1XR1","TBX1","TBX2","TBX4","TCF20","TCF4","TCTN3","TFAP2A","TFAP2B","TGFB3","TGIF1","TLK2","TMEM216","TMEM231","TOE1","TONSL","TOPORS","TP63","TPR","TRIO","TRPM3","TRPS1","TRRAP","TUBGCP2","TWIST1","TWIST2","UFD1","UNC80","USP9X","WAC","WASHC4","WDR26","WDR62","XRCC4","YY1","ZBTB20","ZEB2","ZMPSTE24","ZMYM2","ZNF292","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DEPRESSED_NASAL_TIP":{"collection":"C5:HPO","systematicName":"M34726","pmid":"","exactSource":"HP:0000437","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000437","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEPRESSED_NASAL_TIP","geneSymbols":["ACTB","ACTG1","ALX4","CILK1","COLEC11","EIF2S3","EPG5","EXOC2","EXT2","FANCL","FLNA","KDM6A","KMT2A","KMT2D","MUSK","MYCN","NAA10","PHF21A","POGZ","PRIM1","PTCH1","SPTBN1","TAF1","TBX2","TGIF1","TP63","ZEB2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CONVEX_NASAL_RIDGE":{"collection":"C5:HPO","systematicName":"M34727","pmid":"","exactSource":"HP:0000444","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000444","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONVEX_NASAL_RIDGE","geneSymbols":["ADAR","ALG9","APC","ASH1L","ASPH","ATP7A","ATR","ATRIP","BANF1","C12orf57","CCDC22","CENPE","CENPJ","CENPT","CEP152","COG4","COL1A1","COL1A2","COL3A1","CPLX1","CREBBP","CSGALNACT1","CTBP1","CTSK","DNA2","DONSON","DPF2","EFEMP2","ELN","EP300","ERCC2","ERCC4","ERF","FGFR2","FGFR3","FGFRL1","GRIP1","IFIH1","IL11RA","ITCH","LEMD2","LETM1","LIG4","LMNA","LRP4","LSM11","LTBP1","MBTPS2","MEIS2","MGAT2","NBN","NEK9","NHEJ1","NSD2","NUP188","NUP85","PCNT","PDGFRB","PEX1","PLK4","POLD1","POLR3A","PPP2R3C","PRPS1","PTF1A","RBBP8","RLIM","RMRP","RNASEH2A","RNASEH2B","RNASEH2C","RNU7-1","RUNX2","SAMHD1","SATB2","SCARF2","SLC25A24","SLC2A10","TBCE","TRAIP","TREX1","TRIP13","TWIST1","UBR1","VPS13B","WRN","XRCC4","ZEB2","ZMPSTE24","ZPR1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_WIDE_NOSE":{"collection":"C5:HPO","systematicName":"M34728","pmid":"","exactSource":"HP:0000445","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000445","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WIDE_NOSE","geneSymbols":["ACTB","ACTG1","ACY1","ADAMTS18","AIP","ALG12","ARID1A","ASPH","ATP6V1B2","AVP","BRCC3","BUB1","BUB1B","BUB3","CAMTA1","CCNQ","CDH11","CEP57","CHD8","CKAP2L","CLCF1","COG7","COX7B","CRLF1","DLK1","DONSON","DPF2","DVL1","DVL3","DYNC2H1","DYNC2I1","DYNC2I2","EPG5","ESCO2","FGFR1","FHL1","FRAS1","FREM2","FUCA1","FZD2","GDF5","GPC4","GPR101","GRIP1","HCCS","HDAC4","HMGA2","IDS","IDUA","IFT80","IL11RA","INSR","KAT6B","KATNB1","KCNH1","KCNMA1","KCNN3","KIF11","KMT2A","LARP7","LEMD3","LMBRD2","LMX1B","MAN1B1","MEG3","MGP","MOGS","NANS","NDE1","NDUFB11","NOTCH2","OTUD6B","PAFAH1B1","PAM16","PHGDH","PIGG","POR","POU4F1","PPP1CB","PPP1R15B","PRRX1","PTEN","QRICH1","RAI1","RELN","RNF125","RNF2","RPS6KA3","RTL1","SATB2","SEC23A","SETBP1","SETD1A","SIN3A","SKIC3","SLC37A4","SMARCA2","SMARCA4","SMARCB1","SMARCE1","SMG9","STAMBP","STAT3","STXBP1","TBL1XR1","TBX1","TCTN3","TMCO1","TOGARAM1","TONSL","TRIM37","TRIP13","TRMT10A","TWIST2","VPS33A","VPS53","WBP11","WDR35","WLS","WNT5A","YWHAE","ZNF341"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NARROW_NASAL_BRIDGE":{"collection":"C5:HPO","systematicName":"M34729","pmid":"","exactSource":"HP:0000446","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000446","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NARROW_NASAL_BRIDGE","geneSymbols":["BMPR1B","CDON","COG4","COL3A1","CREBBP","DISP1","DLL1","EP300","FGF8","FGFR1","FOXH1","GAS1","GDF5","GJA1","GLI2","HERC2","HNRNPR","KCNJ6","KCNK9","MAGEL2","MDM2","MED12","MKRN3","MMP2","NDP","NFIB","NODAL","NONO","NPAP1","PAX3","PORCN","PPP1R21","PTCH1","PWAR1","PWRN1","RECQL4","RNF13","RNU4ATAC","SHH","SIM1","SIX3","SMARCA2","SMARCA4","SNORD115-1","SNORD116-1","SNRPN","SRCAP","SUFU","TDGF1","TGIF1","ZIC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PROMINENT_NOSE":{"collection":"C5:HPO","systematicName":"M34730","pmid":"","exactSource":"HP:0000448","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000448","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROMINENT_NOSE","geneSymbols":["AARS1","ACER3","ACTB","ACTG1","ADAT3","AP1S2","AP4S1","APC2","ASH1L","ASPH","ATR","BCL11B","BLM","BPTF","CDK19","CDK5RAP2","CENPE","CENPT","CEP120","CHD3","CLTCL1","COG5","CREBBP","CTSK","CUL4B","DCAF17","DENND5A","DYNC1I2","EIF4A3","EMG1","EP300","ERCC2","ERCC6","ERCC8","EXOSC5","EXTL3","FBXL3","FGF3","FHL1","FOXP2","GJA5","GJA8","GMPPA","GNB2","GPC4","H4C5","HYMAI","INTU","ITGA3","KAT6B","LIG4","LMBR1","MAN1B1","MBD5","MED12","METTL5","MINPP1","NBN","NFIX","NHS","NIN","NONO","NSUN2","OPHN1","PCNT","PDE4D","PEX19","PEX3","PGM2L1","PLAGL1","PLK4","PMM2","POC1A","PSMB8","PSMD12","QRICH1","RBBP8","RLIM","RNU4ATAC","RUSC2","SLF2","SMC5","SMG8","SNRPN","SOX6","SPART","SPOP","SRCAP","STAG2","STIL","STIM1","TAB2","TAF6","TMEM94","TTC5","TTI2","UFC1","UNC80","USP9X","WARS1","WDR73","ZNF668","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CHOANAL_STENOSIS":{"collection":"C5:HPO","systematicName":"M34731","pmid":"","exactSource":"HP:0000452","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000452","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHOANAL_STENOSIS","geneSymbols":["ASXL3","BUB1","CEP55","DCHS1","FAM20C","FAT4","FGFR1","FGFR2","FGFR3","FRAS1","KMT2D","MBTPS2","MSL3","NFIX","PAICS","POLR1B","POLR1D","POR","PTDSS1","PTH1R","RECQL4","SALL4","SCARF2","SETBP1","SOST","TXNL4A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FLARED_NOSTRILS":{"collection":"C5:HPO","systematicName":"M34732","pmid":"","exactSource":"HP:0000454","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000454","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FLARED_NOSTRILS","geneSymbols":["ANKRD17","BRCC3","CAMTA1","CDC42","NAA10","PDHA1","SIN3A","SMOC1","TCF4","USP9X"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BROAD_NASAL_TIP":{"collection":"C5:HPO","systematicName":"M34733","pmid":"","exactSource":"HP:0000455","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000455","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BROAD_NASAL_TIP","geneSymbols":["ABCC9","ADAMTS18","ADNP","AGL","AIFM1","ALX3","ALX4","APC","ARID1A","ARID1B","ARID2","ARSL","ASXL2","ASXL3","ATP6V0A2","ATP6V1A","ATP6V1B2","ATP6V1E1","BCOR","BPTF","CASK","CCNK","CCNQ","CDC42BPB","CDH11","CDK10","COG6","CPLANE1","CTCF","CTNNB1","DOCK7","DPF2","DPYD","DYRK1A","EBF3","EIF2S3","ELN","EXOSC2","EXT2","EXTL3","FAM149B1","FBXO28","FLNB","FOXP1","FREM1","GATAD2B","GLB1","GPAA1","H4C3","H4C5","HDAC4","HDAC8","HNRNPK","HRAS","HS2ST1","HUWE1","IDUA","IGF1R","KAT6A","KCNH1","KCNK9","KCNN3","KDM3B","KDM6A","KIAA0753","KIF11","KIF7","KMT2A","KNSTRN","KPTN","LAS1L","LRP2","LTBP1","MAP3K7","MCTP2","METTL5","MLXIPL","MYMK","NACC1","NRAS","NSD1","NXN","OFD1","PDE6D","PGAP2","PGAP3","PHF21A","PHF8","PHIP","PIGO","PIGQ","PIGV","PIK3CD","POC1A","POGZ","PORCN","PPP2CA","PRKAR1A","PRKAR1B","PRMT7","PTPRF","PUF60","PURA","QRICH1","RAB3GAP1","RAB3GAP2","RARB","RFX7","RHOBTB2","RNF135","RPS6KA3","RYR1","SATB2","SET","SETBP1","SETD2","SH3PXD2B","SIX2","SMARCA4","SMARCAL1","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SMG9","SNRPN","SOX11","SOX4","SRCAP","SUPT16H","TAF1","TBC1D24","TBL1XR1","TBX2","TCTN3","TFAP2A","TFAP2B","TLK2","TMEM216","TOE1","TOPORS","TPR","TWIST1","WAC","WASHC4","XRCC4","YY1","ZBTB20","ZMYM2","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BIFID_NASAL_TIP":{"collection":"C5:HPO","systematicName":"M34734","pmid":"","exactSource":"HP:0000456","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000456","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BIFID_NASAL_TIP","geneSymbols":["ALX3","ALX4","ATP6V1B2","BCOR","CDH11","CENPJ","EFNB1","FREM1","FRMPD4","FZD2","H4C3","HNRNPK","HSPA9","KAT6A","NAA10","SCNM1","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DEPRESSED_NASAL_RIDGE":{"collection":"C5:HPO","systematicName":"M34735","pmid":"","exactSource":"HP:0000457","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000457","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEPRESSED_NASAL_RIDGE","geneSymbols":["AASS","ABCA12","ALX4","ARSL","ATRX","B9D1","B9D2","BMPER","BUB1","BUB1B","BUB3","CASZ1","CC2D2A","CDON","CEP290","CEP57","CHRNA1","CHRND","CHRNG","CNOT3","CREBBP","CSPP1","DDR2","DISP1","DLL1","DZIP1L","EDA","EDA2R","EDAR","EDARADD","EFNB1","FAM20C","FGF20","FGF8","FGFR1","FOXA2","FOXH1","GABRD","GAS1","GFRA1","GH1","GHR","GLB1","GLI2","GLI3","GMNN","GREB1L","HDAC6","HESX1","HSPA9","HSPG2","ITGA8","KCNAB2","KDF1","LBR","LHX4","LMBR1","LUZP1","MAN2B1","MBD5","MKS1","MMP23B","MN1","MYH3","NALCN","NODAL","OTX2","PAX3","PAX7","PDE4D","PDPN","PEPD","PEX12","PHGDH","PIGL","PKHD1","PLCH1","POU1F1","PRDM16","PRKAR1A","PRKCZ","PRMT7","PROP1","PSAT1","PTCH1","PTPN11","PUS1","RERE","RET","RMRP","RPGRIP1","RPGRIP1L","RPS19","SHH","SIX3","SKI","SKIC3","SLC35C1","SMC1A","SNAP29","SOX3","SOX9","SPEN","STAG2","STIL","TBX1","TCTN1","TCTN2","TCTN3","TDGF1","TFAP2B","TGIF1","TMEM107","TMEM216","TMEM231","TMEM237","TMEM67","TRAF6","TRIP13","TWIST2","TXNDC15","UBE4B","WNT9B","ZIC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ANOSMIA":{"collection":"C5:HPO","systematicName":"M34736","pmid":"","exactSource":"HP:0000458","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000458","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANOSMIA","geneSymbols":["ADCY3","ANK1","ANOS1","ARNT2","ARSL","ATP13A2","CCDC141","CHD7","DCC","DNAI1","DUSP6","FEZF1","FGF10","FGF17","FGF8","FGFR1","FGFR2","FGFR3","FLRT3","FSHB","GNRH1","HESX1","HS6ST1","IL17RD","KISS1","KISS1R","LZTFL1","MFN2","NDNF","NHLH2","NSMF","OTX2","PEX7","PHYH","PROK2","PROKR2","SCN9A","SEMA3A","SEMA3E","SHH","SLC39A14","SMCHD1","SOX10","SOX2","SOX3","SPRY4","TAC3","TACR3","TCF12","WDR11"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NARROW_NOSE":{"collection":"C5:HPO","systematicName":"M34737","pmid":"","exactSource":"HP:0000460","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000460","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NARROW_NOSE","geneSymbols":["ABL1","ACP5","CARS1","CCNQ","COL5A1","DDR2","ERCC6","ERCC8","EYA1","FBN1","FGFR2","GJA1","HYOU1","LMNA","MED12","PDGFRB","POLE","POLR3A","RNU4ATAC","SATB2","SCARF2","SMC1A","TGDS","TP63","TRRAP","TWIST1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_NECK":{"collection":"C5:HPO","systematicName":"M34738","pmid":"","exactSource":"HP:0000464","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000464","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_NECK","geneSymbols":["ABCC6","ABCC9","ACAN","ACTA1","ACTB","ACTG1","ACVR1","ADA2","ADARB1","ADAT3","AEBP1","AFF3","AGPAT2","AIFM1","AKT1","ALDH18A1","ALDH1A2","ALDOA","ALG12","ALG8","ALG9","ALS2","AMER1","AMMECR1","ANKRD11","ANO3","ANTXR2","APC","ARHGEF2","ARL6","ARSL","ARVCF","ATN1","ATP13A2","ATP1A2","ATP1A3","ATP6V0A2","ATP6V1A","ATP6V1B2","ATP6V1E1","ATP7A","ATRX","B3GALT6","B3GAT3","B3GLCT","B4GALT1","BAP1","BAZ1B","BBIP1","BBS1","BBS10","BBS12","BBS2","BBS4","BBS5","BBS7","BBS9","BCL7B","BCOR","BCR","BLTP1","BMPER","BPTF","BRAF","BRD4","BRF1","BSCL2","BUB1","BUB1B","BUB3","BUD23","C2CD3","CACNA1A","CANT1","CASZ1","CAV1","CAVIN1","CBL","CCDC22","CCDC8","CCN6","CD96","CDC42","CDC42BPB","CDH11","CDH2","CDK10","CDK13","CDK5","CEP19","CEP290","CEP55","CEP57","CEP85L","CFAP418","CFL2","CHD7","CHMP2B","CHN1","CHRNA1","CHRND","CHRNG","CHST3","CIZ1","CLDN11","CLIP2","CLP1","CNOT3","CNP","COG1","COG5","COG7","COL11A1","COL11A2","COL12A1","COL25A1","COL2A1","COL6A1","COL6A2","COL6A3","COLEC11","COMT","COX20","CP","CPLX1","CREBBP","CRKL","CRLF1","CSGALNACT1","CSPP1","CTBP1","CTNND2","CUL4B","CUL7","CYP27A1","DCC","DDC","DDR2","DDRGK1","DDX3X","DHCR7","DHPS","DHX37","DKK1","DLK1","DLL3","DNAJC30","DOHH","DOK7","DONSON","DPYD","DPYSL5","DRD2","DVL1","DVL3","DYM","EBP","ECEL1","EDEM3","EFNB1","EIF4H","ELN","EMD","ENPP1","EP300","EPHB4","ERCC1","ERCC2","ERCC5","ERCC6","ERLIN2","ERMARD","ESCO2","EXOC6B","EXOSC9","EYA1","FAM20C","FANCB","FANCI","FANCL","FBLN5","FBN2","FBXW11","FGD1","FGFR1","FGFR2","FGFR3","FGFRL1","FHL1","FIG4","FKBP6","FLI1","FLNA","FLNB","FLVCR2","FN1","FOS","FOXC2","FOXE1","FOXF1","FOXP2","FREM2","FTO","FUS","FZD2","GABRA1","GABRA3","GABRD","GABRG2","GALNS","GATA1","GATA2","GATA4","GCH1","GDAP2","GDF3","GDF6","GJA5","GJA8","GLB1","GLE1","GNAL","GNAS","GNE","GNPTG","GNS","GP1BB","GPC3","GPC4","GPC6","GPKOW","GPX4","GRIK2","GRN","GTF2I","GTF2IRD1","GTF2IRD2","GUSB","H3-3A","H4C5","HABP2","HBA1","HBA2","HDAC4","HDAC8","HEATR3","HECTD4","HERC1","HES7","HESX1","HIRA","HK1","HNF1B","HNRNPK","HNRNPR","HPCA","HPDL","HRAS","HS2ST1","HSPA9","HSPG2","HUWE1","HYLS1","IDH1","IDS","IDUA","IFT140","IFT172","IFT27","IFT43","IFT74","IGBP1","IGF1","IGF1R","IL6ST","IMPDH2","INPPL1","INTS1","INTU","IRF3","IRX5","ITGA7","JMJD1C","KAT6A","KCNAB2","KCNC3","KCNH1","KCNJ8","KCNMA1","KCNN2","KCNN3","KCTD17","KDM4B","KIAA0586","KIF1C","KIF21A","KIF26A","KIF7","KIFBP","KLHL41","KMT2A","KMT2B","KMT2D","KNSTRN","KRAS","KRT5","LAMA5","LBR","LETM1","LFNG","LHX3","LHX4","LIFR","LIMK1","LIPE","LMNA","LMOD3","LMX1B","LRP1","LRPPRC","LUZP1","LZTFL1","LZTR1","MADD","MAFB","MAN1B1","MAN2B1","MAP2K1","MAP2K2","MAP3K7","MAPK1","MAPRE2","MAPT","MBD5","MCTP2","MECP2","MED12","MED13L","MEFV","MEG3","MEGF8","MEOX1","MESP2","METTL27","MGAT2","MICU1","MINPP1","MKKS","MKS1","MLXIPL","MMP23B","MPL","MRAS","MRPL12","MRPS16","MRPS22","MRPS28","MSL3","MUSK","MYF5","MYH3","MYH7","MYL11","MYO18B","MYOD1","NAA10","NALCN","NANS","NAXE","NBAS","NBN","NCF1","NDE1","NDUFB10","NDUFS3","NEB","NEK9","NELFA","NF1","NFIX","NIPBL","NKX2-1","NKX3-2","NKX6-2","NLRP1","NOG","NOTCH2","NOTCH3","NPHP1","NR4A2","NRAS","NSD2","NUP188","NUP88","NXN","OBSL1","ODC1","OTUD5","OTUD6B","PAFAH1B1","PAICS","PALB2","PAM16","PCDH19","PCGF2","PDPN","PEPD","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PGAP1","PGAP2","PGAP3","PHF8","PHGDH","PHOX2A","PIEZO1","PIEZO2","PIGA","PIGG","PIGL","PIGN","PIGO","PIGS","PIGV","PIGW","PIGY","PIK3C2A","PIK3CA","PIK3CD","PKDCC","PLXNA1","PLXND1","PNKD","POFUT1","POGLUT1","POGZ","POLE","POLR1B","POLR1C","POLR1D","POLR3A","POP1","POU1F1","PPARG","PPP1CB","PPP1R15B","PPP2R5D","PRDM16","PRDX3","PRKAR1B","PRKCZ","PRKRA","PRMT7","PROP1","PRRT2","PSAT1","PSEN1","PSENEN","PSMD12","PTCH1","PTCH2","PTEN","PTPN11","PUF60","RAB23","RAB33B","RAB3GAP1","RAB3GAP2","RAB5IF","RAD21","RAF1","RAPSN","RASA2","RB1","RDH11","RERE","RFC2","RFT1","RFX7","RIPK4","RIPPLY2","RIT1","RMRP","RNF170","RNU4ATAC","ROBO3","ROR2","RPL10","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS7","RRAS","RRAS2","RREB1","RSPRY1","RTL1","RYR1","SALL4","SATB2","SCAPER","SCLT1","SCN1A","SCN1B","SCN2A","SCN4A","SCN9A","SCNM1","SCP2","SCYL2","SDCCAG8","SEC24C","SELENON","SEMA5A","SETBP1","SF3B2","SGCE","SH3PXD2B","SHOC2","SHOX","SIGMAR1","SIN3A","SIX1","SIX5","SKI","SLC18A3","SLC25A24","SLC26A2","SLC2A1","SLC31A1","SLC35A1","SLC35A2","SLC35D1","SLC39A13","SMAD4","SMARCA2","SMARCAL1","SMARCD1","SMC1A","SMC3","SMPD4","SMS","SNRPB","SNRPN","SOS1","SOS2","SOX10","SOX9","SPEN","SPG11","SPRED1","SPRED2","SPTBN1","SPTLC1","SQSTM1","SRCAP","SRY","STAG1","STX16","STX1A","STXBP1","SUFU","SUPT16H","SVIL","SYNGAP1","TAF1","TALDO1","TAPT1","TASP1","TBC1D24","TBCK","TBK1","TBL1XR1","TBL2","TBP","TBR1","TBX1","TBX15","TBX2","TBX6","TCF4","TCOF1","TCTN2","TECPR2","TFAP2A","TGDS","TGFB2","TGM6","THAP1","THPO","TICAM1","TIMM50","TLR3","TMCO1","TMEM106B","TMEM151A","TMEM216","TMEM260","TMEM270","TMEM94","TNNI2","TNNT3","TOGARAM1","TOR1A","TPM2","TRAF3","TRAF7","TRAPPC2","TRAPPC9","TREM2","TRIM32","TRIP11","TRIP13","TRMT10A","TRPM3","TRPV4","TSR2","TTC8","TTN","TUBA1A","TUBB","TUBB2B","TUBB3","TUBB4A","TWIST1","TXNDC15","UBE2A","UBE4B","UFD1","UNC80","UNC93B1","USB1","VAC14","VCP","VPS11","VPS13D","VPS16","VPS33A","VPS35L","VPS37D","VPS51","WAC","WASHC5","WBP11","WDPCP","WDR35","WDR37","WDR81","WNT4","WNT5A","WNT7A","XYLT1","XYLT2","YWHAE","ZC4H2","ZMPSTE24","ZMYM2","ZNF142","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_WEBBED_NECK":{"collection":"C5:HPO","systematicName":"M34739","pmid":"","exactSource":"HP:0000465","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000465","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WEBBED_NECK","geneSymbols":["ACTB","ACTG1","ADA2","AEBP1","ALDH1A2","AMER1","ANKRD11","B3GAT3","B3GLCT","BCOR","BLTP1","BMPER","BRAF","C2CD3","CBL","CDC42","CHD7","CHN1","CHRNG","CHST3","CPLX1","CTBP1","DVL3","EFNB1","FANCL","FBXW11","FGFRL1","FLI1","FOXC2","GATA1","GATA2","GDF3","GDF6","GLE1","GPC3","GPC4","HEATR3","HRAS","IGF1R","KAT6A","KMT2A","KRAS","LAMA5","LETM1","LMNA","LMX1B","LZTR1","MAFB","MAP2K1","MAP2K2","MAP3K7","MAPK1","MEGF8","MEOX1","MKS1","MRAS","MYH3","MYO18B","NAA10","NALCN","NF1","NKX2-1","NRAS","NSD2","PIEZO1","PIGL","PIK3CA","PPP1CB","PTPN11","RAF1","RASA2","RB1","RIT1","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS7","RRAS","RRAS2","RYR1","SALL4","SHOC2","SLC35A1","SLC39A13","SMS","SNRPB","SOS1","SOS2","SPRED2","SRY","STXBP1","TAPT1","TASP1","TBX2","TMEM260","TMEM94","TNNI2","TNNT3","TPM2","TSR2","WBP11","XYLT2","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LIMITED_NECK_RANGE_OF_MOTION":{"collection":"C5:HPO","systematicName":"M34740","pmid":"","exactSource":"HP:0000466","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000466","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIMITED_NECK_RANGE_OF_MOTION","geneSymbols":["GABRA1","GABRG2","GDF6","MEOX1","MYL11","NOG","PCDH19","SCN1A","SCN1B","SCN2A","SCN9A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NECK_MUSCLE_WEAKNESS":{"collection":"C5:HPO","systematicName":"M34741","pmid":"","exactSource":"HP:0000467","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000467","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NECK_MUSCLE_WEAKNESS","geneSymbols":["ACTA1","ADCY5","AGRN","AK9","ALS2","CAV3","CFL2","CHAT","CHCHD10","CHRNA1","CHRNB1","CHRND","CHRNE","CNBP","COL12A1","COL13A1","COL6A1","COL6A2","COL6A3","COLQ","CRYAB","DES","DOK7","DYSF","FA2H","FLNC","FUS","GALC","GFPT1","GMPPB","GYG1","JAG2","KBTBD13","KLHL41","LAMA2","LAMB2","LMNA","LMOD3","LPIN1","LRIF1","LRP4","MEGF10","MORC2","MT-CO1","MT-CO3","MTM1","MUSK","MYH2","MYH7","MYL1","MYO9A","MYPN","NEB","NOTCH2NLC","OBSCN","ORAI1","PABPN1","PLIN4","PNPLA2","POLG","PRPS1","PSAP","PYROXD1","RAPSN","RNASEH1","RRM2B","SCN4A","SELENON","SGCG","SIGMAR1","SLC18A3","SLC22A5","SLC25A1","SLC52A2","SLC52A3","SLC5A7","SNAP25","SPG11","SPTLC1","SYNE1","SYT2","TGM6","TMEM43","TNNT1","TOP3A","TPM2","TPM3","TRIM32","TRIP4","TTN","VAMP1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LONG_NECK":{"collection":"C5:HPO","systematicName":"M34742","pmid":"","exactSource":"HP:0000472","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000472","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LONG_NECK","geneSymbols":["ATP7A","EBP","EYA1","FLNA","GABRA3","HERC1","POLR3A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_THICKENED_NUCHAL_SKIN_FOLD":{"collection":"C5:HPO","systematicName":"M34743","pmid":"","exactSource":"HP:0000474","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000474","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THICKENED_NUCHAL_SKIN_FOLD","geneSymbols":["ABCC6","ALG9","ATP6V1B2","CBL","CHMP2B","EBP","EFNB1","ENPP1","FOXF1","GATA1","GRN","HNRNPK","HRAS","KRAS","LAMA5","LRPPRC","LZTR1","MAPT","MRAS","NRAS","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PIGN","PSAT1","PSEN1","PTPN11","RAF1","RASA2","RIT1","RNU4ATAC","RRAS","RRAS2","SLC26A2","SLC31A1","SLC35A2","SOS1","SOS2","SPRED2","SQSTM1","TBC1D24","TMEM106B","TRAF7","TREM2","TRIP11","VCP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BROAD_NECK":{"collection":"C5:HPO","systematicName":"M34744","pmid":"","exactSource":"HP:0000475","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000475","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BROAD_NECK","geneSymbols":["B3GLCT","BPTF","CCDC22","COG1","DHX37","FHL1","HES7","HYLS1","IGBP1","MAPRE2","MED12","MEGF8","NF1","NUP88","PHGDH","POLE","PPP1CB","PSMD12","RAPSN","RPS26","RPS28","SLC2A1","SVIL","TECPR2","TOGARAM1","TWIST1","UBE2A","WNT7A","ZMYM2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CYSTIC_HYGROMA":{"collection":"C5:HPO","systematicName":"M34745","pmid":"","exactSource":"HP:0000476","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000476","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CYSTIC_HYGROMA","geneSymbols":["BLTP1","BRAF","CBL","CDC42BPB","CEP55","CHRNA1","CHRND","CHRNG","COL2A1","DLL3","DOK7","DONSON","ESCO2","FLVCR2","FOXC2","FOXF1","HNRNPK","IFT43","KIF21A","KRAS","LAMA5","LBR","LZTR1","MAP2K1","MCTP2","MESP2","MRAS","MUSK","MYOD1","NRAS","NUP88","PIGS","PLXND1","PTPN11","RAF1","RAPSN","RASA2","RIT1","RRAS","RRAS2","SLC18A3","SLC26A2","SOS1","SOS2","SPRED2","TGDS","TMEM216","TRAF7","TRIP11","TUBA1A","WDR35"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_RETINAL_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M34746","pmid":"","exactSource":"HP:0000479","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000479","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RETINAL_MORPHOLOGY","geneSymbols":["AARS1","ABCA4","ABCB6","ABCC6","ABCC8","ABHD12","ACBD5","ACD","ACO2","ACOX1","ACTA2","ACTB","ACTG1","ACTL6B","ACVRL1","ADAM9","ADAMTS18","ADAMTSL1","ADAMTSL4","ADAR","ADGRV1","AGBL5","AGXT","AHI1","AHR","AIPL1","AIRE","AKT1","ALDH1A3","ALDH3A2","ALDH6A1","ALG12","ALG6","ALG8","ALMS1","ALPK1","AMACR","ANK1","ANO10","ANTXR1","AP3B2","AP3D1","AP5Z1","APC","APOB","APOC2","APOE","APPL1","ARHGEF18","ARL13B","ARL2","ARL2BP","ARL3","ARL6","ARL6IP6","ARMC9","ARSG","ARV1","ARVCF","ASAH1","ASPA","ASXL1","ATCAY","ATF6","ATG7","ATOH7","ATP1A2","ATP1A3","ATP2B2","ATP5F1A","ATP5F1D","ATP5F1E","ATP5MK","ATP6V0A2","ATP6V1A","ATP6V1E1","ATPAF1","ATPAF2","ATXN2","ATXN7","B3GALNT2","B3GLCT","B4GAT1","B9D1","B9D2","BANK1","BAP1","BAZ1B","BBIP1","BBS1","BBS10","BBS12","BBS2","BBS4","BBS5","BBS7","BBS9","BCL11A","BCL7B","BCOR","BCS1L","BEST1","BLK","BLM","BLOC1S3","BLOC1S5","BMP4","BUD23","C12orf57","C1QTNF5","C2CD3","C4A","C4B","C9","CA2","CA4","CABP4","CACNA1A","CACNA1B","CACNA1F","CACNA2D1","CACNA2D4","CAPN5","CARS1","CASK","CAV1","CBS","CC2D2A","CCDC103","CCDC22","CCDC28B","CCDC39","CCDC40","CCDC65","CCM2","CCND1","CCNO","CCNQ","CCR1","CDH23","CDH3","CDHR1","CDK19","CDK4","CDKN2A","CDKN2B","CEL","CELF2","CENPF","CEP120","CEP164","CEP19","CEP290","CEP41","CEP78","CEP83","CERKL","CFAP221","CFAP298","CFAP300","CFAP410","CFAP418","CFAP74","CFH","CFHR1","CFHR3","CFI","CHD7","CHEK2","CHM","CHN1","CHRDL1","CHST14","CHST6","CIB2","CLCC1","CLCN2","CLCN3","CLCNKB","CLDN19","CLEC3B","CLIP2","CLN3","CLN5","CLN6","CLRN1","CLTC","CNGA1","CNGA3","CNGB1","CNGB3","CNKSR2","CNNM4","COA8","COG1","COL11A1","COL11A2","COL18A1","COL2A1","COL4A1","COL8A2","COL9A1","COL9A2","COL9A3","COMT","COQ2","COX15","COX7B","COX8A","CP","CPLANE1","CPLX1","CR2","CRB1","CREBBP","CRLS1","CRPPA","CRX","CRYAB","CSPP1","CST3","CTBP1","CTC1","CTLA4","CTNNA1","CTNNB1","CTNS","CTSA","CTSD","CWC27","CYFIP2","CYP1B1","CYP27A1","CYP4V2","CYSLTR2","DACT1","DAG1","DALRD3","DARS1","DCT","DDR2","DEAF1","DGCR2","DGCR6","DGCR8","DHDDS","DHX16","DHX38","DLAT","DLK1","DLST","DNAAF1","DNAAF11","DNAAF2","DNAAF3","DNAAF4","DNAAF5","DNAAF6","DNAH1","DNAH11","DNAH5","DNAH9","DNAI1","DNAI2","DNAJB13","DNAJC21","DNAJC30","DNAL1","DNASE1","DNM1","DNM2","DNMT3A","DNMT3B","DPAGT1","DPM1","DPP6","DPYD","DPYSL5","DRAM2","DRC1","DSE","DST","DUX4","DUX4L1","DYNC2H1","DYNC2I1","DYNC2I2","DYNC2LI1","DYRK1A","EBP","EDN3","EDNRB","EEF1A2","EFEMP1","EIF4H","ELMO2","ELN","ELOVL4","ENG","ENPP1","EPAS1","EPG5","ERAP1","ERCC1","ERCC2","ERCC3","ERCC4","ERCC5","ERCC6","ERCC8","ESPN","ESS2","ETHE1","ETS1","EXOSC2","EXOSC3","EYS","F12","FAM111A","FAM161A","FAS","FBLN1","FBLN5","FBN1","FBN2","FBXO28","FCGR2B","FCGR3B","FDXR","FGF12","FGF13","FGF3","FGFR1","FGFR2","FH","FIBP","FKBP6","FKRP","FKTN","FLCN","FLII","FLNB","FLVCR1","FOXC1","FOXE3","FOXJ1","FRG1","FSCN2","FUCA1","FZD4","FZR1","G6PC1","GABBR2","GABRA2","GABRA5","GABRB2","GABRG2","GALC","GALNT3","GAS2L2","GAS8","GATA3","GBA1","GCDH","GCK","GDF2","GDF3","GDF6","GFPT1","GGCX","GLB1","GM2A","GMPPB","GNA11","GNAQ","GNAT1","GNAT2","GNB3","GNB5","GNPTAB","GP1BB","GPIHBP1","GPR143","GPR179","GRHL2","GRIN2D","GRK1","GRM6","GRN","GSS","GTF2E2","GTF2H5","GTF2I","GTF2IRD1","GTF2IRD2","GUCA1A","GUCA1B","GUCY2D","GZF1","HACE1","HADH","HADHA","HADHB","HARS1","HBB","HBG1","HBG2","HCCS","HCN1","HEXA","HEXB","HGSNAT","HHAT","HID1","HIRA","HK1","HKDC1","HLA-A","HLA-B","HLA-DPA1","HLA-DPB1","HLA-DRB1","HMCN1","HMGB3","HMX1","HNF1A","HNF4A","HPS4","HPS5","HPS6","HSD11B2","HSD17B10","HSPD1","HTRA1","HYDIN","IDH3A","IDH3B","IDS","IDUA","IFNG","IFNGR1","IFT122","IFT140","IFT172","IFT27","IFT43","IFT52","IFT74","IFT80","IFT88","IGFBP7","IGHG1","IKBKG","IL10","IL12A","IL12A-AS1","IL12B","IL23R","IMPDH1","IMPG1","IMPG2","INPP5E","INS","INSR","INTS1","INVS","IPO8","IQCB1","IQSEC2","IRAK1","IRF5","ISCA1","ITGAM","ITM2B","IVNS1ABP","JAG1","JAZF1","JMJD1C","KATNB1","KCNA2","KCNB1","KCNJ11","KCNJ13","KCNV2","KIAA0319L","KIAA0586","KIAA0753","KIAA1549","KIF11","KIF1B","KIF3B","KIF5A","KIZ","KLF1","KLF11","KLHL7","KLRC4","KRAS","KRIT1","KRT25","KRT71","KRT74","LAMA1","LAMB2","LARGE1","LCA5","LCK","LETM1","LIG3","LIMK1","LIPH","LMNA","LOXL1","LOXL3","LPAR6","LPL","LRAT","LRIT3","LRP2","LRP5","LRRC32","LRRC56","LTBP2","LYST","LZTFL1","MAB21L1","MAF","MAFB","MAGEL2","MAK","MAN2B1","MAN2C1","MAPKAPK3","MAPRE2","MAX","MC1R","MCIDAS","MCOLN1","MDH2","MECP2","MECR","MED12","MEFV","MEG3","MERTK","METTL27","MFRP","MFSD8","MGMT","MIA3","MICOS13","MIR204","MITF","MKKS","MKS1","MLX","MLXIPL","MMACHC","MORC2","MPDZ","MPLKIP","MSRB3","MSTO1","MT-ATP6","MT-ATP8","MT-CO1","MT-CO2","MT-CO3","MT-CYB","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND4L","MT-ND5","MT-ND6","MT-TE","MT-TF","MT-TH","MT-TK","MT-TL1","MT-TN","MT-TQ","MT-TS1","MT-TS2","MT-TV","MT-TW","MTSS2","MTTP","MVK","MYD88","MYO5A","MYO6","MYO7A","MYOC","NAA10","NBN","NCAPG2","NCF1","NDE1","NDP","NDUFA1","NDUFA9","NDUFAF1","NDUFB11","NDUFS2","NECAP1","NEK1","NEK10","NEK2","NEK8","NELFA","NEU1","NEUROD1","NF1","NF2","NGLY1","NHS","NLRP3","NME5","NME8","NMNAT1","NOD2","NOTCH2NLC","NPHP1","NPHP3","NPHP4","NR2E3","NRCAM","NRL","NSD2","NSMCE2","NTRK2","NUS1","NYX","OAT","OCA2","OCRL","ODAD1","ODAD2","ODAD3","ODAD4","OFD1","OPA1","OPN1LW","OPN1MW","OPN1SW","OTX2","OVOL2","P3H2","P4HA2","PACS2","PAK2","PANK2","PARS2","PAX2","PAX4","PAX6","PCARE","PCDH15","PCNA","PCYT1A","PDCD1","PDCD10","PDE6A","PDE6B","PDE6C","PDE6D","PDE6G","PDE6H","PDGFRB","PDX1","PDZD7","PEPD","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PEX7","PGAP1","PGK1","PHYH","PIBF1","PIEZO2","PIGG","PIGL","PIK3CA","PISD","PITPNM3","PLA2G5","PLK4","PLOD1","PMM2","PNPLA6","POC1B","POGZ","POLG","POLR3A","POMGNT1","POMGNT2","POMK","POMT1","POMT2","PORCN","POT1","POU3F4","PPP2R3C","PPP3CA","PPT1","PRCD","PRDM5","PRDX1","PRF1","PROM1","PROS1","PRPF3","PRPF31","PRPF4","PRPF6","PRPF8","PRPH2","PRPS1","PRR12","PRSS56","PRTN3","PRUNE1","PSAP","PTCH1","PTEN","PTPN22","PUF60","PUS1","PXK","RAB18","RAB28","RAB3GAP1","RAB3GAP2","RAI1","RAX","RAX2","RB1","RBP3","RBP4","RCBTB1","RD3","RDH11","RDH12","RDH5","REEP6","RELN","RERE","RET","RFC2","RGR","RHO","RIMS1","RIMS2","RLBP1","RMRP","RNASEH1","RNF113A","RNF216","RNU4ATAC","RNU7-1","ROM1","RP1","RP1L1","RP2","RP9","RPE65","RPGR","RPGRIP1","RPGRIP1L","RPL10","RPS6KA3","RREB1","RRM2B","RS1","RSPH1","RSPH3","RSPH4A","RSPH9","RTL1","RTTN","RXYLT1","SACS","SAG","SALL1","SALL2","SALL4","SAR1B","SBDS","SCAPER","SCLT1","SCN3A","SCN8A","SDCCAG8","SDHA","SDHAF1","SDHAF2","SDHB","SDHC","SDHD","SEC24C","SELENOI","SEMA3E","SEMA4A","SERPINC1","SETD2","SF3B1","SH2B1","SH3BP2","SHH","SIM1","SIX3","SIX6","SLC12A6","SLC13A5","SLC19A2","SLC1A2","SLC24A1","SLC24A5","SLC25A11","SLC25A15","SLC25A19","SLC35A2","SLC37A4","SLC38A3","SLC38A8","SLC45A2","SLC6A6","SLC7A14","SMAD4","SMCHD1","SMPD1","SNRNP200","SOX10","SOX2","SPAG1","SPATA7","SPEF2","SPG11","SPP1","SPTBN1","SRD5A3","SSBP1","STAT3","STAT4","STK36","STN1","STUB1","STX1A","SUMF1","SURF1","SYCE1","SYNGAP1","SYNJ1","SZT2","TAF2","TARS1","TBC1D20","TBL2","TBX1","TBX22","TCTN1","TCTN2","TCTN3","TEAD1","TEK","TELO2","TENM3","TERC","TERF2IP","TERT","TFAP2A","THSD1","TIMP3","TINF2","TK2","TLCD3B","TLR4","TLR7","TMCO1","TMEM107","TMEM127","TMEM138","TMEM216","TMEM218","TMEM231","TMEM237","TMEM270","TMEM67","TMEM98","TNFAIP3","TNFRSF11A","TNFRSF11B","TNFSF4","TNIP1","TOPORS","TP53","TPP1","TRAF3IP1","TRAK1","TRAPPC2","TRAPPC9","TREX1","TRIM32","TRIM37","TRIM44","TRIP13","TRNT1","TRPM1","TRPM3","TSC1","TSC2","TSPAN12","TTC12","TTC21B","TTC8","TTLL5","TTPA","TUB","TUBB","TUBB4B","TUBGCP4","TUBGCP6","TULP1","TWNK","TXN2","TXNDC15","TYR","UBA5","UBAC2","UBE2L3","UBE3B","UFD1","UGP2","UNC119","USH1C","USH1G","USH2A","USP45","VCAN","VHL","VPS13B","VPS33A","VPS35L","VPS37D","VPS41","VPS4A","VSX1","WAC","WARS2","WASHC5","WDPCP","WDR19","WFS1","WHRN","WRN","WT1","WWOX","XRCC4","XYLT1","XYLT2","YAP1","YARS1","YME1L1","YWHAG","ZEB1","ZEB2","ZFYVE26","ZMYND10","ZNF408","ZNF423","ZNF469","ZNF513","ZNF668","ZPR1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RETINAL_COLOBOMA":{"collection":"C5:HPO","systematicName":"M34747","pmid":"","exactSource":"HP:0000480","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000480","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETINAL_COLOBOMA","geneSymbols":["AHI1","ALDH1A3","B3GLCT","C2CD3","CASK","CEP120","CEP290","CEP41","CHD7","CLDN19","CRB1","DHX38","FGF3","FIBP","HMX1","INPP5E","INTS1","KIAA0586","LCA5","LRAT","MAN2C1","MKS1","MMACHC","NMNAT1","PAX2","PIGL","PRPS1","PUF60","RAB18","RAB3GAP1","RAB3GAP2","RPE65","SALL2","SALL4","SPATA7","TBC1D20","TENM3","TFAP2A","ZEB2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CORNEA_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M34748","pmid":"","exactSource":"HP:0000481","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000481","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CORNEA_MORPHOLOGY","geneSymbols":["AARS1","ABCA1","ABCA12","ABCA4","ABCG8","ACTB","ACTG1","ADAMTS18","ADNP","AEBP1","AGBL1","AGBL5","AGK","AHI1","AHR","AIPL1","AIRE","AKT1","ALDH18A1","ALDH3A2","ALOX12B","ALOXE3","ANK1","ANKRD11","ANKRD55","ANTXR1","AP1B1","AP3D1","APC2","APOA1","APOA2","APOB","APOE","ARCN1","ARHGEF18","ARHGEF2","ARID1B","ARL2","ARL2BP","ARL3","ARL6","ARPC4","ARSB","ARSG","ARVCF","ASAH1","ASH1L","ATAD3A","ATOH7","ATP7B","B3GALNT2","B3GALT6","B3GLCT","B4GAT1","B9D1","B9D2","BAP1","BAZ1B","BBS1","BBS2","BBS9","BCL7B","BCOR","BEST1","BLOC1S3","BMP4","BRCA1","BRCA2","BRD4","BRIP1","BTNL2","BUB1","BUB1B","BUB3","BUD23","C1QBP","C4A","CA4","CACNA1F","CAMK2B","CAMSAP1","CAMTA1","CARS1","CC2D2A","CCDC28B","CCDC47","CCR1","CD247","CDH11","CDHR1","CENPF","CEP290","CEP57","CEP78","CERKL","CERS3","CFAP418","CHD3","CHD4","CHMP1A","CHN1","CHRDL1","CHST14","CHST6","CHUK","CLDN11","CLDN16","CLDN19","CLIP2","CLRN1","CLTCL1","CNGA1","CNGA3","CNGB1","COL11A1","COL17A1","COL18A1","COL1A1","COL1A2","COL25A1","COL3A1","COL4A1","COL4A3","COL4A4","COL4A5","COL4A6","COL5A1","COL5A2","COL7A1","COL8A2","COL9A1","COL9A2","COL9A3","COLEC10","COMT","COX7B","CPAMD8","CPLX1","CRB1","CREBBP","CRLF1","CRPPA","CRX","CRYAA","CRYBA4","CRYBB1","CRYBB2","CRYGC","CRYGD","CSPP1","CTBP1","CTCF","CTDP1","CTNS","CTSA","CYP1B1","CYP4V2","DACT1","DAG1","DCN","DDB2","DDR2","DEAF1","DGCR2","DGCR6","DGCR8","DHCR7","DHDDS","DHX38","DNAI1","DNAJC21","DNAJC30","DPAGT1","DPYD","DSE","DST","DYM","DYRK1A","EBF3","EBP","EDEM3","EIF4H","ELN","ELP1","EMC1","EP300","EPCAM","EPHX2","ERAP1","ERCC2","ERCC3","ERCC4","ERCC5","ERCC6","ERCC8","ESCO2","ESS2","EXOSC2","EXOSC5","EYS","FAM161A","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FAS","FBLN5","FBN1","FBXW7","FERMT1","FGD1","FGF10","FGF3","FGFR1","FGFR2","FGFR3","FIBP","FIG4","FKBP14","FKBP6","FKRP","FKTN","FLG","FLI1","FLII","FLNA","FLNB","FOXC1","FOXC2","FOXE3","FOXL2","FRAS1","FSCN2","FUCA1","FZD4","GALNS","GALNT2","GATA1","GATAD2B","GBA1","GDF6","GHR","GJA1","GJA8","GJB2","GJB3","GJB4","GJB6","GLA","GLB1","GLRB","GMPPB","GNAQ","GNAS","GNB5","GNPTAB","GNPTG","GORAB","GP1BB","GPR143","GRHL2","GRIA1","GSN","GTF2E2","GTF2H5","GTF2I","GTF2IRD1","GTF2IRD2","GUCA1B","GUCY2D","GUSB","H1-4","HARS1","HCCS","HDAC4","HDAC8","HGSNAT","HIRA","HK1","HLA-B","HLA-DRB1","HLCS","HMGB3","HMX1","HRAS","HS2ST1","HSPG2","IARS2","IDH3A","IDH3B","IDS","IDUA","IFNGR1","IFT140","IFT172","IFT88","IKBKG","IKZF1","IL10","IL12A","IL12A-AS1","IL23R","IL2RA","IL2RB","IL6ST","IMPDH1","IMPG1","IMPG2","INTS1","IQCB1","IQSEC2","JAG1","JAM2","JMJD1C","KAT6A","KCNJ13","KCNMA1","KCNV2","KDM5B","KDM6A","KDSR","KERA","KIAA1549","KIDINS220","KIF11","KIFBP","KIZ","KLHL7","KLRC4","KMT2B","KMT2D","KRAS","KRT12","KRT14","KRT3","KRT5","LAMA3","LAMB3","LAMC2","LARGE1","LBR","LCA5","LCAT","LDLR","LETM1","LIFR","LIG4","LIMK1","LIPC","LMBRD2","LMNA","LMX1B","LRAT","LRP5","LTBP2","LZTR1","MAB21L1","MAB21L2","MAD2L2","MAF","MAFB","MAG","MAK","MAN2B1","MAP3K7","MAPK8IP3","MAPKAPK5","MAPRE2","MARK3","MBD5","MBTPS2","MCOLN1","MED25","MEFV","MEGF8","MERTK","METTL27","MIR184","MITF","MKS1","MLXIPL","MMP1","MMP14","MMP2","MPLKIP","MPV17","MT-CYB","MT-TS2","MTTP","MYO1H","MYORG","NAA10","NAGA","NCAPG2","NCF1","NDP","NDUFB11","NEK2","NELFA","NEU1","NEUROD2","NFIX","NGLY1","NHS","NIPAL4","NIPBL","NLRP1","NLRP3","NMNAT1","NOD2","NOG","NOTCH2","NR2E3","NR2F1","NRAS","NRL","NSD1","NSD2","NTRK1","OCLN","OCRL","OFD1","OPN1LW","OPN1MW","OTUD5","OTX2","OVOL2","P4HTM","PACS2","PALB2","PAX2","PAX6","PBX1","PCARE","PCSK9","PCYT1A","PDE6A","PDE6B","PDE6G","PDGFB","PDGFRB","PDZD8","PERCC1","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PIEZO2","PIGG","PIGL","PIGN","PIGQ","PIGT","PIK3R1","PIKFYVE","PITX2","PITX3","PLCB3","PLCG2","PLEC","PLK4","PLOD1","PLXND1","PNPLA1","POGZ","POLA1","POLH","POLR3A","POLR3GL","POMGNT1","POMGNT2","POMK","POMT1","POMT2","PORCN","PPP1R12A","PPP1R17","PPP2CA","PPP2R5D","PRCD","PRDM12","PRDM5","PRDX3","PRKAR1B","PRMT7","PROM1","PRPF3","PRPF31","PRPF4","PRPF6","PRPF8","PRPH2","PRR12","PRSS56","PSMB8","PTEN","PTPN2","PTPN22","PXDN","PYCR1","RAB18","RAB23","RAB3GAP1","RAB3GAP2","RAD21","RAD51","RAD51C","RAI1","RAX","RBM8A","RBP3","RBP4","RD3","RDH12","RECQL","RECQL4","REEP6","RERE","REV3L","RFC2","RFWD3","RGR","RHO","RHOA","RIPK4","RLBP1","RNF113A","RNF125","RNF2","RNU4ATAC","ROBO3","ROM1","RP1","RP1L1","RP2","RP9","RPE65","RPGR","RPGRIP1","RPGRIP1L","RREB1","RSPO2","RXYLT1","SAG","SALL1","SALL4","SC5D","SCAPER","SCARF2","SCN9A","SCUBE3","SDR9C7","SEC24C","SEMA4A","SERPING1","SETBP1","SETD2","SETD5","SF3B2","SH3PXD2B","SHOC2","SIX6","SLC16A12","SLC20A2","SLC25A24","SLC25A4","SLC29A3","SLC2A10","SLC35C1","SLC38A8","SLC39A4","SLC39A8","SLC4A11","SLC4A4","SLC7A14","SLX4","SMARCAL1","SMC1A","SMC3","SMG8","SNRNP200","SOS2","SOX2","SPATA7","SPINT2","SREBF1","ST14","STAT4","STS","STX1A","STXBP1","SULT2B1","SUMF1","TACSTD2","TARS1","TAT","TBC1D20","TBC1D2B","TBC1D7","TBCE","TBCK","TBL1XR1","TBL2","TBX1","TBX15","TBX22","TCEAL1","TCF4","TCTN1","TCTN2","TCTN3","TEAD1","TEK","TENM3","TFAP2A","TFE3","TGFB2","TGFBI","TGM1","TINF2","TKFC","TLR4","TMEM107","TMEM216","TMEM231","TMEM237","TMEM270","TMEM67","TNPO2","TOPORS","TP63","TRAPPC2","TRIM37","TRIP13","TRPV3","TRPV4","TTC8","TUB","TUBA3D","TUBB","TUBB4B","TULP1","TWIST2","TXNDC15","TYR","UBAC2","UBE2T","UBE3B","UBIAD1","UFD1","UROD","UROS","USH2A","USP45","USP9X","VAC14","VARS1","VPS37D","VSX1","VSX2","WAC","WAS","WDR73","WIPF1","WNT3","WT1","XPA","XPC","XPR1","XRCC2","YAP1","YY1","ZBTB7A","ZEB1","ZEB2","ZFHX2","ZFHX4","ZMIZ1","ZMPSTE24","ZNF408","ZNF469","ZNF513"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MICROCORNEA":{"collection":"C5:HPO","systematicName":"M34749","pmid":"","exactSource":"HP:0000482","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000482","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MICROCORNEA","geneSymbols":["AARS1","ACTB","ACTG1","ADAMTS18","ANK1","ARL2","ATOH7","B3GALNT2","B3GALT6","B3GLCT","B4GAT1","B9D1","B9D2","BCOR","BEST1","BMP4","BRD4","CARS1","CC2D2A","CENPF","CEP290","CHN1","CHST14","COL4A1","CRPPA","CRYAA","CRYBA4","CRYBB1","CRYBB2","CRYGC","CRYGD","CSPP1","CTCF","CTDP1","DAG1","DEAF1","DPYD","EBP","ERCC2","ERCC3","ERCC6","ERCC8","FANCB","FGF3","FKBP14","FKRP","FKTN","FLI1","FLII","FOXE3","FOXL2","FZD4","GJA1","GJA8","GORAB","GTF2E2","GTF2H5","HDAC8","HMGB3","HMX1","HSPG2","IQSEC2","JAG1","KDM6A","KIF11","KMT2D","KRAS","LARGE1","LMX1B","MAB21L2","MAF","MAFB","MAPRE2","MED25","MIR184","MITF","MKS1","MPLKIP","NAA10","NDP","NHS","NIPBL","OTX2","PAX6","PITX2","PITX3","PLK4","PLOD1","POMGNT1","POMGNT2","POMK","POMT1","POMT2","PRR12","PRSS56","PXDN","PYCR1","RAB18","RAB23","RAB3GAP1","RAB3GAP2","RAD21","RAI1","RBP4","RECQL4","RNF113A","RPGRIP1","RPGRIP1L","RSPO2","RXYLT1","SALL4","SC5D","SLC16A12","SMC1A","SMC3","TARS1","TBC1D20","TBL1XR1","TBX15","TBX22","TCTN1","TCTN2","TCTN3","TENM3","TFAP2A","TMEM107","TMEM216","TMEM231","TMEM237","TMEM67","TUBB","TXNDC15","UBE3B","WNT3","ZEB2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ASTIGMATISM":{"collection":"C5:HPO","systematicName":"M34750","pmid":"","exactSource":"HP:0000483","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000483","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ASTIGMATISM","geneSymbols":["AARS1","ADNP","AEBP1","AGBL5","ALDH3A2","ANKRD11","AP3D1","APC2","ARCN1","ARHGEF2","ARID1B","ARL6","ARPC4","ARSG","ASH1L","BAP1","BBS1","BBS9","BLOC1S3","BRCA1","BRCA2","BRIP1","C1QBP","CACNA1F","CAMK2B","CAMSAP1","CAMTA1","CARS1","CC2D2A","CCDC28B","CCDC47","CEP78","CHD3","CHD4","CHMP1A","CHRDL1","CHST14","CHST6","CLDN11","CLDN16","CLDN19","CLRN1","CNGA3","COL17A1","COL1A2","COL25A1","COL4A1","COL8A2","COL9A1","COL9A2","COL9A3","DNAJC21","DPAGT1","DPYD","DSE","DYRK1A","EBF3","EDEM3","EMC1","ERCC2","ERCC3","ERCC4","EXOSC5","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FBN1","FBXW7","FIBP","FLNA","GALNT2","GATAD2B","GLRB","GNPTAB","GPR143","GRHL2","GRIA1","GTF2E2","GTF2H5","H1-4","HARS1","HDAC4","HK1","IFT172","INTS1","KAT6A","KCNV2","KDM5B","KIDINS220","KIF11","KMT2B","KRAS","LIG4","LMBRD2","LMX1B","MAD2L2","MAG","MAN2B1","MAP3K7","MAPK8IP3","MBD5","MBTPS2","MIR184","MPLKIP","MT-TS2","MYO1H","NEUROD2","NFIX","NIPBL","NOG","NSD1","OTUD5","OVOL2","P4HTM","PACS2","PALB2","PAX2","PBX1","PDZD8","PIEZO2","PIGQ","PIGT","PIK3R1","PITX2","POGZ","POLR3GL","PPP1R12A","PPP2R5D","PRKAR1B","PRMT7","RAD51","RAD51C","RECQL4","RERE","RFWD3","RHOA","RNF113A","RNF2","RNU4ATAC","ROBO3","SCUBE3","SETBP1","SETD2","SETD5","SHOC2","SLC25A24","SLC2A10","SLC38A8","SLC39A8","SLC4A11","SLX4","SMARCAL1","SMG8","STXBP1","TARS1","TBC1D2B","TBC1D7","TBCE","TCEAL1","TCF4","TEAD1","TFE3","TGFBI","TNPO2","TRIM37","TUB","TYR","UBE2T","UBE3B","USP9X","VARS1","VSX1","WAC","XRCC2","YY1","ZBTB7A","ZEB1","ZEB2","ZFHX4","ZMIZ1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPEROPIC_ASTIGMATISM":{"collection":"C5:HPO","systematicName":"M46056","pmid":"","exactSource":"HP:0000484","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000484","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPEROPIC_ASTIGMATISM","geneSymbols":["CHST6","GATAD2B","GNPTAB","GPR143","ROBO3","TBC1D2B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MEGALOCORNEA":{"collection":"C5:HPO","systematicName":"M34751","pmid":"","exactSource":"HP:0000485","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000485","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MEGALOCORNEA","geneSymbols":["ANTXR1","BAZ1B","BCL7B","BUD23","CDH11","CHRDL1","CLIP2","COL11A1","CPLX1","CTBP1","DNAJC30","EIF4H","ELN","FBN1","FGD1","FGFR2","FKBP6","FKRP","FKTN","GMPPB","GNPTAB","GTF2I","GTF2IRD1","GTF2IRD2","KCNMA1","KIFBP","LARGE1","LETM1","LIMK1","LTBP2","MAF","METTL27","MLXIPL","MT-CYB","NCF1","NELFA","NSD2","PIGG","PIK3R1","PITX2","POMGNT1","POMK","POMT1","POMT2","PPP2CA","PRDM5","RFC2","SH3PXD2B","STX1A","TBL2","TEK","TINF2","TMEM270","VPS37D"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RETINOPATHY":{"collection":"C5:HPO","systematicName":"M34752","pmid":"","exactSource":"HP:0000488","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000488","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETINOPATHY","geneSymbols":["ABCC6","ABCC8","ACD","AGXT","ALDH3A2","ALG8","AP5Z1","APOE","APPL1","ATG7","B9D1","BANK1","BAP1","BCL11A","BLK","BLM","C1QTNF5","C4A","C4B","CCR1","CDH3","CDK4","CDKN2A","CDKN2B","CEL","CEP41","COL11A1","COX15","CPLX1","CR2","CREBBP","CSPP1","CTBP1","CTLA4","CTNS","DNASE1","DPM1","ENPP1","ERAP1","ERCC2","ERCC3","ERCC4","ERCC5","ETS1","FAS","FCGR2B","FCGR3B","FGFR1","GCK","GNPTAB","HADHA","HBB","HBG1","HBG2","HLA-B","HLA-DPA1","HLA-DPB1","HLA-DRB1","HNF1A","HNF4A","IDS","IDUA","IFNGR1","IGHG1","IL10","IL12A","IL12A-AS1","IL12B","IL23R","INS","INSR","IRAK1","IRF5","ITGAM","JAZF1","KCNJ11","KIAA0319L","KIF11","KLF1","KLF11","KLRC4","KRAS","LETM1","MAPRE2","MC1R","MCOLN1","MECP2","MEFV","MFSD8","MGMT","MIA3","MITF","MLX","MT-ATP6","MT-TE","MT-TK","MT-TL1","MTTP","MYO5A","NELFA","NEU1","NEUROD1","NOD2","NSD2","PANK2","PAX4","PDCD1","PDX1","PEX7","PHYH","PIGG","PLK4","POT1","PROS1","PRTN3","PRUNE1","PTCH1","PTPN22","PXK","SAR1B","SPP1","STAT3","STAT4","TERF2IP","TERT","THSD1","TLR4","TLR7","TMEM107","TMEM231","TNFAIP3","TNFRSF11B","TNFSF4","TNIP1","TREX1","TRIM32","TUBB","TXN2","UBAC2","UBE2L3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DEEPLY_SET_EYE":{"collection":"C5:HPO","systematicName":"M34753","pmid":"","exactSource":"HP:0000490","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000490","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEEPLY_SET_EYE","geneSymbols":["ABL1","AGL","AGO2","AHDC1","ALKBH8","ALMS1","ANKRD17","AP1S2","ARNT2","ASH1L","ASXL3","ATAD3A","ATN1","BAP1","BBS7","BCR","BICRA","BPTF","BRCC3","CACNA1G","CAMK2B","CAMTA1","CARS1","CASZ1","CDH2","CDKL5","CENPF","CEP57","CHN1","CILK1","CNOT3","COA3","COL3A1","COL5A1","COX5A","COX8A","CRB1","CREBBP","CRKL","CRPPA","CTBP1","CTCF","DCPS","DEAF1","DHPS","DIS3L2","DLK1","DNAJC21","DNM1L","DPH5","DPYD","DPYSL5","DYRK1A","EBF3","EDEM3","EEF1A2","EIF5A","EMC1","EP300","EPB41L1","ERCC1","ERCC2","ERCC4","ERCC6","ERCC8","EXOSC2","EXTL3","FARSA","FARSB","FBN1","FBXO11","FBXO31","FIBP","FLII","FMR1","FOXF1","GABRD","GATA4","GATAD2B","GJA1","GJA5","GJA8","GLYCTK","GNB2","GNS","GORAB","GPKOW","GRIA3","GRIN1","GSC","H3-3A","H4C5","HACE1","HDAC4","HDAC8","HECW2","HHAT","HMGA2","HS6ST2","HSPG2","HUWE1","HYLS1","IARS2","IGF1R","IL6ST","IPO8","IQSEC2","JAG1","JARID2","KAT6A","KCNAB2","KCNK4","KDM5C","KIDINS220","KIF7","KMT2B","KMT2E","KNSTRN","LARP7","LAS1L","LEMD3","LIFR","LUZP1","MAD1L1","MAFB","MAPK1","MAPK8IP3","MED12L","MEF2C","MEG3","MEIS2","MIPEP","MMP23B","MSL3","MYH3","NAA10","NALCN","NDP","NEDD4L","NF1","NFIX","NGF","NOVA2","NTRK1","OCRL","ODC1","OPHN1","ORAI1","OSGEP","PAK1","PAK3","PDCD6IP","PDPN","PGAP1","PHF6","PHIP","PIEZO2","PIGU","PIGY","PIK3CA","PIK3CD","PIK3R1","PLEC","PLP1","POC1A","POLR3A","POU1F1","POU4F1","PPP2R5D","PRDM16","PRKCZ","PRKDC","PRMT7","PRPS1","PRR12","PSMD12","PUF60","PUS7","PYCR1","RAB3GAP1","RAB3GAP2","RAI1","RALGAPA1","RARS2","RECQL","RERE","RHOBTB2","RNF2","RTL1","SALL4","SATB2","SCN4A","SEPTIN9","SETBP1","SETD1A","SH3PXD2B","SHANK3","SIN3A","SKI","SLC35A1","SLC9A6","SLC9A7","SMAD4","SMC1A","SNRPN","SON","SPEN","SPOP","SPTBN1","SRC","SRCAP","SSR4","STAG1","STAT3","STIM1","SUOX","SYNGAP1","TAF1","TAFAZZIN","TBC1D20","TBCD","TBCE","TBCK","TBL1XR1","TBX15","TCF20","TCF4","TGFB2","THOC6","TMEM237","TMEM67","TMEM94","TOGARAM1","TPR","TPRKB","TRIM8","TRIP13","TRPM3","TRRAP","TTC26","TTI2","UBE2A","UBE3A","UBE4B","UGDH","WAC","WASF1","XRCC4","YARS1","ZBTB20","ZC4H2","ZEB2","ZNF668","ZPR1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_KERATITIS":{"collection":"C5:HPO","systematicName":"M34754","pmid":"","exactSource":"HP:0000491","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000491","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_KERATITIS","geneSymbols":["AARS1","ABCA12","AEBP1","AIRE","ALOX12B","ALOXE3","BTNL2","C4A","CARS1","CCR1","CERS3","CLTCL1","COL17A1","COL4A5","COL4A6","CRLF1","DDB2","EPCAM","ERAP1","ERCC2","ERCC3","ERCC4","ERCC5","ERCC6","ERCC8","FAS","FBN1","FGF10","FGFR2","FGFR3","GATA1","GJB2","GJB6","GSN","GTF2E2","GTF2H5","HLA-B","HLA-DRB1","HLCS","IARS2","IFNGR1","IKBKG","IL10","IL12A","IL12A-AS1","IL23R","IL6ST","KLRC4","LBR","MAB21L1","MBTPS2","MEFV","MPLKIP","MTTP","NIPAL4","NLRP1","NLRP3","NOD2","NTRK1","PAX6","PERCC1","PLEC","PNPLA1","POLH","RECQL","RNF113A","RNF125","SCN9A","SDR9C7","SLC35C1","SREBF1","STAT4","SULT2B1","TARS1","TGM1","TLR4","TP63","UBAC2","UROD","UROS","WAS","WIPF1","XPA","XPC","ZEB1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_EYELID_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M34755","pmid":"","exactSource":"HP:0000492","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000492","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_EYELID_MORPHOLOGY","geneSymbols":["AARS1","ABAT","ABCA1","ABCA12","ABCA5","ABCC9","ABCG8","ABHD5","ABL1","ACOX1","ACSL4","ACTB","ACTG1","ACTL6B","ADA2","ADAM17","ADAMTS18","ADAMTS2","ADAMTS3","ADAMTSL2","ADAR","ADARB1","ADAT3","ADH5","ADNP","AFF2","AFF3","AFF4","AGO1","AGO2","AGR2","AHDC1","AHI1","AIP","AKT1","AKT3","ALDH1A2","ALDH1A3","ALDH6A1","ALDOA","ALG12","ALG14","ALG2","ALG3","ALG9","ALOX12B","ALOXE3","ALX1","ALX3","ALX4","AMER1","AMMECR1","AMPD2","ANAPC1","ANGPT2","ANK1","ANKH","ANKLE2","ANKRD11","ANKRD17","ANTXR1","AP1G1","AP1S1","AP3B1","AP3B2","AP4E1","APC","APC2","APCDD1","APOA1","APOA2","APOB","APOE","ARCN1","ARHGEF2","ARID1A","ARID1B","ARID2","ARL3","ARL6","ARPC1B","ARV1","ARVCF","ARX","ASPH","ASPM","ASPRV1","ASXL1","ASXL2","ASXL3","ATAD3A","ATN1","ATP1A2","ATP1A3","ATP6V0A2","ATP6V1A","ATP6V1B2","ATP6V1E1","ATP7A","ATP9A","ATR","ATRIP","ATRX","AUTS2","AXIN2","B3GAT3","B3GLCT","B4GALT7","B9D2","BANF1","BAP1","BAZ1B","BBIP1","BBS1","BBS10","BBS12","BBS2","BBS4","BBS5","BBS7","BBS9","BCAS3","BCL11A","BCL11B","BCL7B","BCOR","BCORL1","BCR","BGN","BICRA","BLM","BLNK","BLTP1","BMP1","BMP2","BMPER","BMPR1A","BPTF","BRAF","BRAT1","BRCA1","BRCA2","BRD4","BRF1","BRIP1","BRPF1","BUB1","BUB1B","BUB3","BUD23","C12orf4","C12orf57","C2CD3","CACNA1A","CACNA1B","CACNA1G","CACNA2D1","CAMK2A","CAMK2G","CAMKMT","CAMTA1","CANT1","CARD14","CARS1","CASK","CASZ1","CBL","CCBE1","CCDC115","CCDC22","CCDC32","CCDC47","CCDC88A","CCND2","CCNK","CCNQ","CD28","CD79A","CD79B","CD96","CDC42","CDC42BPB","CDCA7","CDH1","CDH11","CDH2","CDH3","CDK10","CDK13","CDK19","CDK5RAP2","CDK6","CDSN","CELF2","CENPE","CENPJ","CENPT","CEP135","CEP152","CEP19","CEP290","CEP55","CEP57","CEP63","CERS3","CERT1","CFAP418","CHAMP1","CHD1","CHD3","CHD4","CHD5","CHD7","CHD8","CHMP1A","CHN1","CHRNA1","CHRNA7","CHRND","CHRNG","CHST14","CHST3","CHUK","CILK1","CIT","CKAP2L","CLCN3","CLCN4","CLCN7","CLDN1","CLIP2","CLP1","CLTC","CLTCL1","CNKSR2","CNOT1","CNOT2","CNOT3","CNTNAP1","CNTNAP2","COA3","COG1","COG6","COG7","COG8","COL11A1","COL11A2","COL18A1","COL1A1","COL1A2","COL25A1","COL3A1","COL5A1","COL5A2","COL9A3","COLEC10","COLEC11","COMT","COPB1","COPB2","COQ4","COX5A","COX7B","CPLANE1","CPLX1","CREBBP","CRIPT","CRKL","CRTAP","CSF1R","CSGALNACT1","CSNK2A1","CSPP1","CST6","CTBP1","CTC1","CTCF","CTDP1","CTLA4","CTNND1","CTNND2","CTU2","CUL4B","CUX1","CWC27","CYFIP2","CYP27A1","CYP4F22","DACT1","DALRD3","DCHS1","DDB1","DDB2","DDHD2","DDR2","DDX11","DDX3X","DDX59","DDX6","DEAF1","DENND5A","DGCR2","DGCR6","DGCR8","DHCR24","DHCR7","DHDDS","DHODH","DHX16","DHX30","DIS3L2","DKC1","DLG3","DLK1","DLX4","DMXL2","DNA2","DNAJC21","DNAJC30","DNM1","DNMT3A","DNMT3B","DOCK3","DOCK6","DOCK7","DOK7","DOLK","DONSON","DPF2","DPH1","DPH2","DPH5","DPM1","DPP9","DPYD","DPYSL5","DSC3","DSE","DSG4","DSP","DUX4","DUX4L1","DVL1","DVL3","DYNC1H1","DYNC1I2","DYNC2H1","DYNC2I1","DYNC2I2","DYNC2LI1","DYRK1A","EBF3","EBP","ECEL1","EDA","EDAR","EDARADD","EDEM3","EDN1","EDN3","EDNRA","EDNRB","EED","EEF1A2","EFEMP2","EFNB1","EFTUD2","EGFR","EHMT1","EIF2AK3","EIF4H","EIF5A","ELN","EP300","EPG5","EPHX2","EPS8L3","ERCC1","ERCC2","ERCC3","ERCC4","ERCC5","ERCC6","ERMARD","ESCO2","ESS2","ETFA","ETFB","ETFDH","EXOC2","EXOC8","EXOSC1","EXOSC2","EXOSC9","EXT2","EZH2","FAM111B","FAM149B1","FAM20C","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FAS","FAT4","FBLN5","FBN1","FBXL4","FBXO11","FBXO28","FBXO31","FDFT1","FERMT1","FGD1","FGF10","FGF12","FGF13","FGF20","FGF3","FGF5","FGFR1","FGFR2","FGFR3","FGFRL1","FHL1","FIBP","FIG4","FKBP14","FKBP6","FLCN","FLI1","FLII","FLNA","FLNB","FLT4","FOCAD","FOXC1","FOXC2","FOXG1","FOXL2","FOXP1","FOXP2","FRA10AC1","FRAS1","FREM1","FREM2","FRG1","FRMD4A","FTSJ1","FZD2","FZR1","G6PC1","GABBR2","GABRA2","GABRA3","GABRA5","GABRB2","GABRD","GABRG2","GAD1","GALNT2","GATA1","GATA2","GATA4","GATAD2B","GBA1","GDF11","GFRA1","GHR","GJA1","GJA5","GJA8","GJB2","GJB6","GJC2","GLE1","GLI3","GLIS3","GMNN","GNB2","GNE","GNPTAB","GON7","GORAB","GP1BB","GPC3","GPC4","GPC6","GPKOW","GPR101","GPRASP2","GPT2","GREB1L","GRIA1","GRIA3","GRIN2D","GRIP1","GSC","GSN","GTF2E2","GTF2H5","GTF2I","GTF2IRD1","GTF2IRD2","GTPBP2","GUSB","H1-4","H3-3A","H4C11","H4C3","H4C5","H4C9","HBA1","HBA2","HBB","HCCS","HCN1","HDAC4","HDAC8","HEATR3","HECTD4","HECW2","HELLS","HERC1","HERC2","HHAT","HIBCH","HIC1","HID1","HIRA","HIVEP2","HK1","HLA-B","HNRNPH1","HNRNPH2","HNRNPK","HNRNPR","HNRNPU","HOXB1","HOXC13","HPDL","HR","HRAS","HRURF","HS2ST1","HS6ST2","HSD17B4","HSPG2","HUWE1","IDH1","IFIH1","IFT122","IFT140","IFT172","IFT27","IFT43","IFT52","IFT57","IFT74","IFT80","IGBP1","IGF1R","IGHM","IGLL1","IKZF1","IL11RA","IL1RAPL1","IL6ST","INPP5E","INPPL1","INTS1","IPO8","IQSEC2","IRF6","IRX5","ITGA3","ITGA6","ITGA8","ITGB4","JAG1","JARID2","JMJD1C","JUP","KANK2","KANSL1","KAT5","KAT6A","KAT6B","KAT8","KATNB1","KCNA2","KCNAB2","KCNB1","KCNE5","KCNH1","KCNJ2","KCNJ5","KCNJ8","KCNK4","KCNK9","KCNMA1","KCNN3","KCTD1","KDM1A","KDM4B","KDM5B","KDM5C","KDM6A","KDM6B","KIAA0586","KIAA0753","KIF11","KIF14","KIF15","KIF1A","KIF21A","KIF26A","KIF7","KIFBP","KIT","KITLG","KLF13","KMT2A","KMT2B","KMT2C","KMT2D","KMT2E","KMT5B","KNL1","KNSTRN","KPTN","KRAS","KREMEN1","KRT10","KRT25","KRT71","KRT74","KRT81","KRT83","KRT85","KRT86","LAMA3","LARP7","LDHD","LDLR","LETM1","LIFR","LIG4","LIMK1","LIPH","LIPN","LMBRD1","LMBRD2","LMNA","LMNB1","LMX1B","LONP1","LPAR6","LPL","LRP1","LRP2","LRP4","LRRC8A","LSM11","LSS","LTBP1","LTBP3","LTV1","LUZP1","LZTFL1","LZTR1","MAB21L1","MAB21L2","MACF1","MAD2L2","MADD","MAF","MAFB","MAGEL2","MAN1B1","MAN2B1","MAP1B","MAP2K1","MAP2K2","MAP3K7","MAPK1","MAPK8IP3","MAPKAPK5","MAPRE2","MARS1","MASP1","MBD5","MBTPS2","MC1R","MCM7","MCPH1","MCTP2","MECP2","MED12","MED12L","MED13","MED13L","MED25","MED27","MEF2C","MEG3","MEGF8","MEIS2","METTL27","METTL5","MFSD2A","MGAT2","MICU1","MID1","MINPP1","MITF","MKKS","MKRN3","MKS1","MLPH","MLXIPL","MMP23B","MN1","MOGS","MPC1","MPDZ","MPLKIP","MRAS","MRPL12","MRPS2","MSL3","MSMO1","MTHFS","MTOR","MTSS2","MUSK","MVK","MYCN","MYH3","MYL11","MYMK","MYMX","MYO5A","MYOD1","NAA10","NAA20","NALCN","NANS","NARS1","NBAS","NBN","NCAPD3","NCAPG2","NCDN","NCF1","NDN","NDST1","NDUFB11","NDUFS4","NECAP1","NECTIN1","NECTIN4","NEK1","NEK9","NELFA","NEXMIF","NF1","NFIA","NFIB","NFIX","NGLY1","NHP2","NIPAL4","NIPBL","NOG","NONO","NOP10","NOTCH2","NOTCH3","NOVA2","NPAP1","NPHP1","NPM1","NR2F1","NRAS","NRCAM","NSD1","NSD2","NSDHL","NSRP1","NSUN2","NTRK2","NUAK2","NUP188","NUP37","NUP85","NUS1","NXN","OCA2","OCRL","ODC1","OFD1","OGDHL","ORC1","ORC6","OSGEP","OTUD5","OTUD6B","P4HB","PACS1","PACS2","PAFAH1B1","PAH","PAK2","PAK3","PALB2","PARN","PARS2","PAX3","PBX1","PCDHGC4","PCGF2","PCLO","PCNT","PCSK9","PDE11A","PDE4D","PDE6D","PDGFRB","PDHX","PDPN","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PEX7","PGAP1","PGAP2","PGAP3","PGM2L1","PGM3","PHC1","PHF21A","PHF6","PHF8","PHGDH","PHIP","PHOX2A","PHOX2B","PIEZO1","PIEZO2","PIGA","PIGB","PIGG","PIGL","PIGN","PIGO","PIGQ","PIGT","PIGU","PIGV","PIGW","PIGY","PIK3C2A","PIK3CA","PIK3CD","PIK3R1","PIK3R2","PITX1","PITX2","PKDCC","PKP1","PLCD1","PLEC","PLK4","PLOD1","PLPBP","PLXND1","PMM2","PNPLA1","PNPLA6","POGZ","POLA1","POLH","POLR1A","POLR1B","POLR1C","POLR1D","POLR3A","POLR3GL","POLRMT","POU3F3","POU4F1","PPM1B","PPP1CB","PPP1R12A","PPP1R15B","PPP1R17","PPP1R21","PPP2CA","PPP2R1A","PPP2R3C","PPP2R5D","PPP3CA","PQBP1","PRDM13","PRDM16","PREPL","PRIM1","PRKAR1A","PRKAR1B","PRKCZ","PRMT7","PRORP","PRPS1","PRR12","PRRX1","PSAT1","PSMD12","PSPH","PTCH1","PTCH2","PTEN","PTH1R","PTPN11","PTPN22","PUF60","PURA","PUS1","PUS7","PWAR1","PWRN1","PYCR1","PYCR2","QARS1","QRICH1","RAB11B","RAB18","RAB23","RAB3GAP2","RAC1","RAC3","RAD21","RAD51","RAD51C","RAF1","RAI1","RALA","RAPSN","RASA2","RAX","RB1","RBBP8","RBM10","RBMX","RBPJ","RDH11","RECQL","RECQL4","RERE","RET","REV3L","RFC2","RFWD3","RFX7","RHOA","RHOBTB2","RIC1","RIN2","RIPK4","RIT1","RLIM","RMRP","RNASEH2A","RNASEH2B","RNASEH2C","RNF113A","RNF125","RNF135","RNF2","RNU12","RNU4ATAC","RNU7-1","ROR2","RPL10","RPL11","RPL15","RPL18","RPL21","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS23","RPS24","RPS26","RPS27","RPS28","RPS29","RPS6KA3","RPS7","RRAS","RRAS2","RREB1","RSPRY1","RTEL1","RTL1","RTTN","RUSC2","RYR1","RYR3","SALL1","SALL4","SAMHD1","SARS1","SASS6","SATB1","SATB2","SC5D","SCAPER","SCARF2","SCLT1","SCN3A","SCN4A","SCN8A","SCNM1","SDCCAG8","SDR9C7","SEC24C","SEC24D","SEC31A","SEMA3E","SEMA5A","SEPTIN9","SET","SETBP1","SETD1A","SETD1B","SETD2","SETD5","SF3B2","SF3B4","SH3BP2","SH3PXD2B","SHANK3","SHOC2","SHROOM4","SIAH1","SIM1","SIN3A","SIX2","SKI","SKIC3","SLC13A5","SLC17A5","SLC19A3","SLC1A2","SLC25A24","SLC26A2","SLC29A3","SLC2A10","SLC30A9","SLC35A2","SLC35C1","SLC37A4","SLC38A3","SLC39A13","SLC39A4","SLC39A7","SLC3A1","SLC45A1","SLC6A17","SLC6A9","SLC9A7","SLF2","SLX4","SMAD4","SMARCA2","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SMC1A","SMC3","SMC5","SMCHD1","SMO","SMOC1","SMPD4","SMS","SNAI2","SNAP29","SNORD115-1","SNORD116-1","SNRPB","SNRPE","SNRPN","SNX14","SON","SOS1","SOS2","SOX10","SOX11","SOX18","SOX4","SOX5","SOX6","SOX9","SPART","SPATA5L1","SPECC1L","SPEN","SPI1","SPINK5","SPOP","SPRED1","SPRED2","SPTBN1","SRCAP","SREBF1","SRY","ST14","STAC3","STAG1","STAG2","STEEP1","STIL","STRA6","STT3A","STX1A","STXBP1","SUFU","SULT2B1","SUPT16H","SUZ12","SVBP","SYNGAP1","SYNJ1","SYT1","SZT2","TAF1","TAF13","TAF6","TAPT1","TARS1","TASP1","TBC1D24","TBC1D2B","TBCD","TBCK","TBL1XR1","TBL2","TBR1","TBX1","TBX15","TBX2","TBX22","TBX4","TBX6","TCF20","TCF3","TCF4","TCOF1","TCTN3","TELO2","TENM3","TENT5A","TERC","TERT","TFAP2A","TFAP2B","TFE3","TGDS","TGFB2","TGFB3","TGFBI","TGM1","THOC6","THUMPD1","TIMM50","TINF2","TLK2","TMCO1","TMEM107","TMEM147","TMEM216","TMEM237","TMEM270","TMEM53","TNFRSF1B","TNNI2","TNRC6B","TOE1","TONSL","TOPORS","TOR1A","TP63","TPRKB","TRAF3IP2","TRAF7","TRAIP","TRAK1","TRAPPC10","TRAPPC14","TRAPPC9","TREX1","TRIM32","TRIO","TRIP12","TRIP13","TRMT1","TRMT10A","TRPM3","TRPS1","TRRAP","TSPEAR","TSR2","TTC26","TTC8","TTPA","TUBA1A","TUBB","TUBB2B","TUBB3","TUBGCP2","TUBGCP4","TUBGCP6","TWIST1","TWIST2","TXNL4A","TYMS","TYR","TYRP1","UBA5","UBE2A","UBE2T","UBE3A","UBE3B","UBE4B","UBR1","UBR7","UFC1","UFD1","UGDH","UGP2","UMPS","UNC80","UQCC2","UROD","UROS","USB1","USP9X","VAC14","VAMP1","VARS1","VDR","VPS13B","VPS33A","VPS35L","VPS37D","VPS51","VPS53","WAC","WARS1","WAS","WASF1","WASHC5","WDPCP","WDR19","WDR35","WDR37","WDR4","WDR62","WDR73","WIPF1","WNT10A","WNT5A","WNT7A","WNT9B","WRAP53","WT1","WWOX","XPA","XPC","XPNPEP2","XRCC2","XRCC4","XYLT1","YARS1","YARS2","YWHAE","YWHAG","YY1","ZBTB18","ZBTB20","ZBTB24","ZC4H2","ZEB2","ZFHX4","ZIC1","ZIC2","ZMIZ1","ZMPSTE24","ZMYM2","ZMYND11","ZNF148","ZNF292","ZNF407","ZNF462","ZNF469","ZNF526","ZNF699","ZNHIT3","ZPR1","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_FOVEAL_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M34756","pmid":"","exactSource":"HP:0000493","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000493","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FOVEAL_MORPHOLOGY","geneSymbols":["ABCA4","AP3D1","APOE","ATF6","BLOC1S3","BLOC1S5","CACNA1F","CFAP418","CFHR1","CFHR3","CNGA3","CNGB3","CTNNA1","DCT","ELOVL4","FZD4","GDF3","GDF6","GNAT2","GPR143","HMCN1","HPS4","HPS5","HPS6","IDS","IKBKG","IMPG1","LRP5","MC1R","MFRP","MTSS2","NEU1","OAT","OCA2","OFD1","PAX6","PDE6C","PDE6G","PDE6H","PROM1","PRPH2","PRR12","RAB28","RBP4","RDH5","RHO","RLBP1","RPE65","RPGR","SLC24A5","SLC25A19","SLC38A8","SLC45A2","TLCD3B","TULP1","TYR","UGP2","WT1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DOWNSLANTED_PALPEBRAL_FISSURES":{"collection":"C5:HPO","systematicName":"M34757","pmid":"","exactSource":"HP:0000494","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000494","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DOWNSLANTED_PALPEBRAL_FISSURES","geneSymbols":["AARS1","ABAT","ABCA5","ACSL4","ACTB","ACTG1","ACTL6B","ADAMTS2","ADNP","AFF4","AGO1","AHDC1","AKT1","ALDH1A2","ALDH6A1","ALG2","AMMECR1","AMPD2","ANKRD11","AP3B2","AP4E1","APC","APC2","ARCN1","ARHGEF2","ARID1B","ARID2","ARL6","ARV1","ARVCF","ASPH","ASXL3","ATP1A2","ATP1A3","ATP6V0A2","ATP6V1A","ATP6V1B2","ATP6V1E1","ATP7A","ATR","ATRIP","AUTS2","B3GAT3","BAP1","BBIP1","BBS1","BBS10","BBS12","BBS2","BBS4","BBS5","BBS7","BBS9","BCL11A","BCORL1","BGN","BICRA","BMP2","BMPR1A","BPTF","BRAF","BRPF1","BUB1","BUB1B","BUB3","C12orf57","CACNA1A","CACNA1B","CACNA2D1","CAMK2A","CAMTA1","CASK","CBL","CCDC115","CCDC22","CDC42","CDC42BPB","CDH11","CDH2","CDK10","CDK19","CELF2","CENPE","CENPJ","CENPT","CEP152","CEP19","CEP290","CEP57","CFAP418","CHD1","CHD7","CHD8","CHRNA7","CHRNG","CHST14","CHST3","CKAP2L","CLCN3","CLCN4","CLTC","CNKSR2","CNTNAP2","COG1","COL11A1","COL11A2","COL5A1","COL9A3","COLEC10","COLEC11","COMT","CPLX1","CREBBP","CRTAP","CSGALNACT1","CTBP1","CTNND2","CUL4B","CWC27","CYFIP2","DALRD3","DDX59","DHCR24","DHCR7","DHDDS","DHODH","DHX30","DMXL2","DNA2","DNAJC21","DNM1","DOCK3","DOK7","DPF2","DPH1","DPH2","DPM1","DPP9","DPYD","DPYSL5","DSE","DVL1","DVL3","DYNC1H1","DYNC2LI1","EBF3","EBP","EDEM3","EED","EEF1A2","EFEMP2","EFNB1","EFTUD2","EIF5A","EP300","ESCO2","EZH2","FAM20C","FBLN5","FBN1","FBXL4","FBXO11","FBXO28","FBXO31","FGD1","FGF12","FGF13","FGF3","FGFR1","FGFR2","FGFR3","FHL1","FIBP","FLCN","FLI1","FLNA","FOXG1","FOXP1","FREM1","FZD2","FZR1","GABBR2","GABRA2","GABRA5","GABRB2","GABRG2","GAD1","GALNT2","GATA4","GJA1","GLE1","GLI3","GMNN","GORAB","GP1BB","GPC3","GPC4","GRIN2D","GSC","H3-3A","H4C5","H4C9","HBA1","HBA2","HCN1","HEATR3","HECTD4","HERC1","HIRA","HNRNPH1","HNRNPK","HRAS","HS6ST2","HUWE1","IDH1","IFT172","IFT27","IFT74","IGBP1","IL11RA","IL6ST","JARID2","JMJD1C","KAT5","KAT6B","KCNA2","KCNB1","KCNE5","KCNH1","KCNMA1","KCNN3","KDM1A","KDM5B","KIF11","KIF15","KIF7","KIFBP","KMT2A","KMT2D","KMT2E","KPTN","KRAS","KREMEN1","LDHD","LETM1","LMNA","LRP2","LRP4","LTBP1","LZTFL1","LZTR1","MAF","MAN1B1","MAP2K1","MAP2K2","MAP3K7","MAPK1","MAPRE2","MASP1","MED12","MED12L","MED25","MGAT2","MID1","MKKS","MKS1","MN1","MPDZ","MRAS","MSL3","MTOR","MVK","MYH3","MYMK","MYMX","MYOD1","NAA10","NAA20","NALCN","NECAP1","NECTIN1","NEK9","NELFA","NEXMIF","NF1","NFIB","NFIX","NONO","NOTCH2","NOTCH3","NOVA2","NPHP1","NRAS","NSD1","NSD2","NSRP1","NTRK2","NUP85","NUS1","NXN","ODC1","OFD1","OGDHL","ORC6","OSGEP","OTUD5","OTUD6B","P4HB","PACS1","PACS2","PAFAH1B1","PARS2","PAX3","PCGF2","PCNT","PDGFRB","PEX3","PGM2L1","PHOX2B","PIGG","PIK3CA","PITX1","PKDCC","PLK4","PLOD1","POGZ","POLR1A","POLR1B","POLR1C","POLR1D","POLR3A","PPP1CB","PPP1R15B","PPP2R1A","PPP2R5D","PPP3CA","PRPS1","PRR12","PRRX1","PSMD12","PTCH1","PTEN","PTPN11","PURA","PUS7","PYCR1","PYCR2","RAB3GAP2","RAF1","RAI1","RAPSN","RASA2","RBBP8","RDH11","RECQL4","RERE","RIN2","RIT1","RLIM","RNF135","RNU4ATAC","ROR2","RPS19","RPS28","RPS6KA3","RRAS","RRAS2","RREB1","RYR1","SATB1","SATB2","SC5D","SCAPER","SCLT1","SCN3A","SCN4A","SCN8A","SCNM1","SDCCAG8","SEC24C","SEC24D","SEMA5A","SET","SETBP1","SETD1A","SETD1B","SETD2","SETD5","SF3B4","SH3PXD2B","SHOC2","SIAH1","SIN3A","SKI","SKIC3","SLC13A5","SLC19A3","SLC1A2","SLC25A24","SLC29A3","SLC2A10","SLC38A3","SLC39A13","SLC45A1","SLC9A7","SLF2","SMARCA2","SMC1A","SMOC1","SMPD4","SNAP29","SNRPB","SON","SOS1","SOS2","SOX5","SPART","SPATA5L1","SPECC1L","SPEN","SPOP","SPRED1","SPRED2","STAC3","SUPT16H","SUZ12","SYNGAP1","SYNJ1","SZT2","TAF1","TASP1","TBR1","TBX1","TCOF1","TFAP2B","TFE3","TGFB2","TGFB3","THUMPD1","TMCO1","TMEM147","TMEM237","TNNI2","TNRC6B","TRAIP","TRAK1","TRIM32","TRIO","TRIP13","TRMT10A","TSPEAR","TSR2","TTC8","TUBB3","TWIST1","TWIST2","UBA5","UBE3A","UBR7","UFD1","UMPS","UNC80","USP9X","VPS13B","VPS35L","WAC","WASHC5","WDPCP","WNT5A","WWOX","YWHAE","YWHAG","YY1","ZBTB20","ZEB2","ZIC1","ZMIZ1","ZMPSTE24","ZMYM2","ZNF148","ZNF462","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RECURRENT_CORNEAL_EROSIONS":{"collection":"C5:HPO","systematicName":"M34758","pmid":"","exactSource":"HP:0000495","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000495","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_CORNEAL_EROSIONS","geneSymbols":["CHST6","COL17A1","CTNS","ELP1","FGF10","FGFR2","FGFR3","FOXC2","GJB2","KRT3","MBTPS2","MPV17","NTRK1","TGFBI"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BLEPHARITIS":{"collection":"C5:HPO","systematicName":"M34759","pmid":"","exactSource":"HP:0000498","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000498","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BLEPHARITIS","geneSymbols":["ADAM17","APOE","ARPC1B","BRD4","CST6","CTC1","DDB2","DKC1","EGFR","ERCC2","ERCC3","ERCC4","ERCC5","GATA1","GJB2","GJB6","HDAC8","MBTPS2","MSMO1","NHP2","NIPBL","NOP10","NPM1","PARN","PIGN","PLCD1","PLXND1","RAD21","REV3L","RTEL1","SLC39A4","SMC1A","SMC3","SREBF1","ST14","TBX4","TERC","TERT","TINF2","TP63","TRAF3IP2","TYMS","UROD","UROS","USB1","WAS","WIPF1","WRAP53","XPA","XPC"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_EYELASH_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M34760","pmid":"","exactSource":"HP:0000499","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000499","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_EYELASH_MORPHOLOGY","geneSymbols":["ABCC9","AFF4","ALX1","ALX4","ANAPC1","ANTXR1","AP3B2","APCDD1","ARHGEF2","ARID1A","ARID1B","ARID2","ASXL2","ASXL3","ATP6V1B2","AXIN2","B4GALT7","BANF1","BICRA","BLM","BMP1","BRAF","BRCA1","BRD4","CAMKMT","CAMTA1","CANT1","CCDC47","CDC42BPB","CDH1","CDH3","CDSN","CHD1","CHMP1A","CLDN1","CLP1","CNOT2","COL11A1","COL25A1","COL3A1","COX5A","COX7B","CREBBP","CSF1R","CSGALNACT1","CST6","CTC1","CTCF","CTDP1","CTNND1","CWC27","DDB1","DENND5A","DHCR7","DKC1","DLX4","DNMT3B","DOCK7","DOLK","DPF2","DPH1","DPH5","DPYD","DSC3","DSG4","DSP","DUX4","DUX4L1","DVL1","DVL3","EBP","EDA","EDAR","EDARADD","EDN3","EDNRA","EDNRB","EGFR","EP300","EPS8L3","EXOC8","FAM111B","FAS","FBN1","FBXO11","FGF10","FGF5","FGFR1","FIG4","FOXC2","FRAS1","FRG1","FRMD4A","FZD2","GATA1","GJA1","GJA5","GJA8","GJB2","GJB6","GNB2","GTPBP2","H4C5","HCCS","HDAC8","HECTD4","HID1","HOXC13","HPDL","HR","HRURF","HSPG2","IRX5","ITGA3","JUP","KANK2","KCNH1","KCNJ8","KCNK4","KCNK9","KCNMA1","KCNN3","KDM6A","KIF11","KIT","KMT2A","KMT2D","KRAS","KREMEN1","KRT25","KRT71","KRT74","KRT81","KRT83","KRT85","KRT86","LIPH","LMNA","LMNB1","LPAR6","LRP1","LSS","LTBP1","LTBP3","LTV1","MAB21L1","MAB21L2","MADD","MAF","MAN1B1","MAP2K1","MAP2K2","MBD5","MBTPS2","MC1R","MED27","MGAT2","MITF","MLPH","MOGS","MPLKIP","MYO5A","NAA10","NCAPG2","NDUFB11","NECTIN1","NECTIN4","NF1","NHP2","NIPBL","NOP10","NOTCH2","NPM1","NRCAM","NXN","OCA2","ODC1","ORC1","OTUD6B","PACS1","PARN","PAX3","PGM2L1","PHGDH","PKP1","PLCD1","PLK4","PNPLA6","POLR1B","POLR1C","POLR1D","POLR3A","PPM1B","PREPL","PRR12","PTPN22","PUF60","PUS1","PYCR2","RAC3","RAD21","RECQL","RECQL4","RHOBTB2","RIPK4","RMRP","RNF2","RNU12","RNU4ATAC","ROR2","RPL21","RPS23","RTEL1","RUSC2","SATB2","SEC31A","SF3B4","SHANK3","SHOC2","SLC25A24","SLC30A9","SLC35C1","SLC3A1","SLC6A9","SMARCA2","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SMC1A","SMC3","SMCHD1","SMOC1","SNAI2","SNRPE","SOX10","SOX11","SOX18","SOX4","SPEN","SPINK5","SPOP","SRCAP","ST14","STAG1","STAG2","TAF1","TAF6","TBX4","TCOF1","TENT5A","TERC","TERT","TIMM50","TINF2","TMCO1","TP63","TRPS1","TSR2","TUBGCP4","TUBGCP6","TWIST2","TYMS","TYRP1","UFC1","UROD","UROS","USB1","VAC14","VARS1","VPS13B","VPS33A","VPS51","WDR35","WNT10A","WNT5A","WRAP53","XYLT1","YARS2","ZFHX4","ZMPSTE24","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_GLAUCOMA":{"collection":"C5:HPO","systematicName":"M34761","pmid":"","exactSource":"HP:0000501","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000501","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GLAUCOMA","geneSymbols":["ABCA4","ACVR1","ADA2","ADAMTS10","ADAMTS17","ADAMTS3","ADAMTSL1","ADAR","AGBL5","AGK","AHI1","AHR","AKT1","ALDH1A3","ANKLE2","ANKRD55","ANTXR1","ARHGEF18","ARL2BP","ARL3","ARL6","ARSB","ARVCF","ASB10","ATOH7","ATR","ATRIP","B3GALNT2","B3GALT6","B3GAT3","B3GLCT","B4GAT1","BAZ1B","BBS1","BBS2","BCL7B","BCOR","BDNF","BEST1","BRD4","BTNL2","BUB1","BUB1B","BUB3","BUD23","CA4","CANT1","CBS","CC2D2A","CCBE1","CCDC22","CCDC28B","CD247","CDH11","CDHR1","CENPE","CENPJ","CEP152","CEP57","CERKL","CFAP418","CHRDL1","CHST14","CHST3","CISD2","CLIP2","CLN3","CLRN1","CNGA1","CNGB1","COL11A1","COL18A1","COL2A1","COL3A1","COL4A1","COL8A2","COMT","COX7B","CRB1","CREBBP","CRPPA","CRX","CRYAA","CRYBA2","CRYBB3","CSGALNACT1","CYP1B1","DAG1","DCN","DHCR7","DHDDS","DHX38","DNA2","DNAJC30","DPYSL5","DSE","EBP","EFEMP1","EIF4H","ELN","EP300","ESCO2","EXOSC2","EYS","FAM161A","FAM50A","FAS","FAT4","FBN1","FGF10","FGFR2","FGFR3","FKBP6","FKRP","FKTN","FLNA","FOXC1","FOXE3","FREM2","FSCN2","FUT8","FZD4","GATA1","GJA1","GJB3","GJB4","GLIS3","GMPPB","GNAQ","GP1BB","GRHL2","GSN","GTF2I","GTF2IRD1","GTF2IRD2","GUCA1B","GZF1","HCCS","HDAC8","HEATR3","HGSNAT","HIRA","HLA-DRB1","HRAS","IDH3A","IDH3B","IDUA","IFIH1","IFT140","IFT172","IFT88","IL2RA","IL2RB","IMPDH1","IMPG1","IMPG2","JMJD1C","KCNA4","KDSR","KIAA1549","KIF11","KIZ","KLHL7","LARGE1","LIMK1","LMBRD2","LMX1B","LOXL1","LRAT","LRP5","LSM11","LTBP2","MAB21L1","MAF","MAFA","MAG","MAK","MASP1","MERTK","METTL27","MFRP","MLXIPL","MYMK","MYOC","NAA10","NCAPG2","NCF1","NDP","NDRG1","NDUFB11","NEK2","NF1","NFIX","NHS","NIPBL","NLRP3","NOD2","NR2E3","NRL","NTF4","NUP85","OCRL","OFD1","OPTN","OTX2","OVOL2","PAX6","PCARE","PCNT","PDE6A","PDE6B","PDE6G","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PIK3C2A","PIK3R1","PITX2","PLK4","PLOD1","POLG2","POMGNT1","POMGNT2","POMK","POMT1","POMT2","PRCD","PRDM5","PROM1","PRPF3","PRPF31","PRPF4","PRPF6","PRPF8","PRPH2","PRPS1","PRR12","PRSS56","PTCH1","PTCH2","PTEN","PTPN2","PTPN22","PUS1","PXDN","PYCR1","RAD21","RAX","RBBP8","RBP3","RDH12","RECQL4","REEP6","RFC2","RGR","RHO","RHOA","RIGI","RLBP1","RNASEH2A","RNASEH2B","RNASEH2C","RNU4ATAC","RNU7-1","ROM1","RP1","RP1L1","RP2","RP9","RPE65","RPGR","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS7","RREB1","RRM2B","RS1","RXYLT1","SAG","SAMHD1","SBF2","SCAPER","SEC24C","SEMA4A","SH3PXD2B","SIX6","SKIC2","SKIC3","SLC25A4","SLC4A4","SLC7A14","SMC1A","SMC3","SNRNP200","SOX2","SPATA7","SRY","STAT4","STUB1","STX1A","SUFU","TBC1D20","TBL2","TBX1","TEK","TGFB1","TIMP3","TKFC","TMEM270","TMEM98","TOPORS","TRAIP","TREX1","TRIM44","TRIP13","TRPM3","TSR2","TTC8","TUB","TULP1","TWIST1","UFD1","USH2A","VCAN","VPS35L","VPS37D","VSX1","WASHC5","WDR36","WFS1","WT1","XYLT1","YAP1","YARS2","ZEB1","ZMIZ1","ZNF408","ZNF469","ZNF513","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CONJUNCTIVA_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M34762","pmid":"","exactSource":"HP:0000502","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000502","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CONJUNCTIVA_MORPHOLOGY","geneSymbols":["AARS1","ACVRL1","AEBP1","AIRE","AKT1","ANO10","AP1B1","AP1G1","ASAH1","ASPH","ATM","BLNK","BTD","BTK","BTNL2","C4A","CARS1","CCR1","CD19","CD79A","CD79B","COL17A1","COL7A1","CR2","CTSA","DACT1","DDB2","DKC1","DNASE1L3","ENG","ERAP1","ERCC1","ERCC2","ERCC3","ERCC4","ERCC5","ERCC6","ERCC8","ERF","FAS","FBN1","FERMT1","FGF10","FGFR1","FGFR2","FGFR3","FH","FOXC2","FUCA1","GALNT3","GATA1","GDF2","GJB2","GJB6","GLA","GNAQ","GNAS","GSN","GTF2E2","GTF2H5","HLA-B","HLA-DRB1","HLCS","HMOX1","IARS2","ICOS","IFNGR1","IGHM","IGLL1","IGSF3","IKZF1","IL10","IL12A","IL12A-AS1","IL23R","KAT6A","KLLN","KLRC4","KRAS","KRT1","KRT10","KRT14","KRT4","LAMA3","LBR","LIG1","LRBA","LRRC8A","MAB21L1","MANBA","MAPT","MASP1","MBTPS2","MEFV","MMP1","MPLKIP","MTTP","NAGA","NBN","NLRP1","NLRP3","NOD2","PAX1","PCNA","PEX6","PIEZO1","PIGA","PIK3CA","PIK3R1","PITX2","PKHD1","PLG","POLH","PSMB4","PSMB8","PSMB9","PTEN","RAG1","RAG2","RECQL","RNF113A","RNF125","RNF168","SALL1","SAMD9","SASH1","SCN9A","SDHB","SDHC","SDHD","SEC23B","SETX","SF3B2","SHMT2","SLC39A4","SLC39A7","SLCO1B1","SLCO1B3","SMAD4","SPI1","SREBF1","STAT4","STX11","STX16","TACSTD2","TARS1","TCF3","TFRC","TKT","TLR4","TNFRSF13B","TNFRSF13C","TNFRSF1A","TP63","UBAC2","UBR1","UROD","UROS","USB1","USF3","VPS33A","WAS","WIPF1","XPA","XPC"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_VISION":{"collection":"C5:HPO","systematicName":"M47032","pmid":"","exactSource":"HP:0000504","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000504","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_VISION","geneSymbols":["AAAS","AARS1","ABCA1","ABCA4","ABCA7","ABCC6","ABCD1","ACO2","ACTB","ACTL6B","ACVRL1","ADA2","ADAM9","ADAMTS10","ADAMTSL4","ADARB1","ADGRV1","ADNP","ADPRS","ADRA2B","AFF3","AFF4","AFG3L2","AGBL1","AGBL5","AGO2","AGRN","AGTPBP1","AHDC1","AHI1","AHR","AHSG","AIFM1","AIMP1","AIP","AIPL1","AIRE","AK9","AKT1","AKT3","ALDH3A2","ALG11","ALG2","ALG3","ALMS1","ALPK1","AMACR","AMPD2","ANGPTL6","ANKH","ANKRD11","ANKRD55","ANO10","ANOS1","ANTXR1","AP1B1","AP1G1","AP1S2","AP3B1","AP3B2","AP3D1","AP4B1","AP4E1","AP4M1","AP4S1","APC","APOA1","APOE","APP","ARHGDIA","ARHGEF18","ARHGEF2","ARID1A","ARID1B","ARID2","ARL2","ARL2BP","ARL3","ARL6","ARMC9","ARNT2","ARPC4","ARSA","ARSG","ARSK","ARV1","ARX","ASB10","ASNS","ASPA","ASPH","ATF6","ATIC","ATN1","ATOH7","ATP1A2","ATP1A3","ATP5F1A","ATP5F1D","ATP5F1E","ATP5MK","ATP6V0A1","ATP6V1A","ATP8A2","ATPAF1","ATPAF2","ATRX","ATXN3","ATXN7","B3GALNT2","B3GAT3","B3GLCT","B4GAT1","BAP1","BAZ1B","BBS1","BBS2","BBS4","BBS5","BCL10","BCL7B","BCOR","BDNF","BEST1","BIRC3","BLOC1S3","BLOC1S5","BMP4","BMPR1A","BOLA3","BRAF","BRAT1","BRCA1","BRCA2","BRIP1","BTD","BTNL2","BUB1","BUB1B","BUB3","BUD23","C19orf12","C1QBP","C1QTNF5","C4A","CA2","CA4","CA8","CABP4","CACNA1A","CACNA1B","CACNA1D","CACNA1E","CACNA1F","CACNA1G","CACNA1I","CACNA2D1","CACNA2D4","CALR","CAMK2A","CAMK2B","CAMSAP1","CAPN5","CARS1","CARS2","CASK","CASZ1","CBS","CC2D2A","CCDC141","CCDC28B","CCDC47","CCND1","CCR1","CD109","CD247","CDC42","CDC42BPB","CDH1","CDH23","CDH3","CDHR1","CDK19","CDK8","CDKL5","CDON","CEACAM16","CELF2","CEP120","CEP164","CEP250","CEP290","CEP41","CEP57","CEP78","CEP85L","CERKL","CERT1","CFAP410","CFAP418","CFH","CFHR1","CFHR3","CFI","CHAT","CHD3","CHD7","CHKA","CHM","CHMP1A","CHN1","CHP1","CHRDL1","CHRNA1","CHRNB1","CHRND","CHRNE","CHST3","CHST6","CIB2","CKAP2L","CLCC1","CLCN2","CLCN4","CLCN6","CLCN7","CLCNKB","CLEC3B","CLEC7A","CLIP2","CLN3","CLN5","CLN6","CLN8","CLP1","CLRN1","CLTC","CLTRN","CNGA1","CNGA3","CNGB1","CNGB3","CNKSR2","CNNM4","CNTN2","CNTNAP1","COG4","COG5","COL11A1","COL13A1","COL17A1","COL18A1","COL25A1","COL2A1","COL3A1","COL4A1","COL7A1","COL8A2","COL9A1","COL9A2","COL9A3","COPB2","COQ2","COQ7","CORIN","COX11","COX6B1","COX7B","CPSF3","CRB1","CREBBP","CRLS1","CRPPA","CRX","CRYAA","CRYBB1","CRYGC","CSF1R","CSPP1","CST6","CTC1","CTLA4","CTNNA1","CTNNB1","CTNND1","CTNND2","CTNS","CTSD","CTSH","CWC27","CYFIP2","CYP1B1","CYP27A1","CYP4V2","CYSLTR2","D2HGDH","DACT1","DALRD3","DARS2","DBH","DCC","DCN","DCT","DDB2","DDR2","DDX3X","DHDDS","DHX37","DHX38","DIAPH1","DISP1","DKK1","DLAT","DLD","DLL1","DNAJC13","DNAJC30","DNAJC6","DNM1","DNM1L","DNMBP","DOCK6","DOCK7","DOHH","DOK7","DOLK","DPAGT1","DPF2","DPM1","DPP6","DPYD","DRAM2","DTNBP1","DTYMK","DUSP6","DYRK1A","EARS2","EBP","EDN3","EDNRA","EDNRB","EEF1A2","EFEMP1","EIF2B1","EIF2B3","EIF4G1","EIF4H","ELMO2","ELN","ELOVL1","ELOVL4","ELP4","EMC1","ENG","ENPP1","EPCAM","EPM2A","EPRS1","ERAP1","ERCC1","ERCC2","ERCC3","ERCC4","ERCC5","ERCC6","ERCC8","ERF","ESPN","ESR1","ESRRB","EXOSC2","EXOSC3","EXOSC8","EXOSC9","EYS","FA2H","FAM161A","FAN1","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FARS2","FAS","FBN1","FBN2","FBXO28","FBXW7","FCSK","FDFT1","FDX2","FDXR","FEZF1","FGF12","FGF13","FGF14","FGF17","FGF8","FGFR1","FGFR2","FGFR3","FH","FIG4","FKBP6","FKRP","FKTN","FLNA","FLRT3","FLT1","FLVCR1","FN1","FOXC1","FOXC2","FOXE3","FOXH1","FOXL2","FOXP1","FOXRED1","FRAS1","FREM2","FRMD7","FSCN2","FXN","FZD4","FZR1","GABBR2","GABRA2","GABRA5","GABRB1","GABRB2","GABRD","GABRG2","GALC","GAN","GAS1","GATA1","GATA2","GBA1","GDF2","GDF3","GDF6","GGCX","GIGYF2","GIPC3","GJA1","GJB2","GJB6","GLB1","GLI2","GLRX5","GLYCTK","GM2A","GMPPA","GMPPB","GNA11","GNAQ","GNAS","GNAT1","GNAT2","GNB1","GNB3","GNS","GORAB","GP1BA","GP1BB","GPAA1","GPR101","GPR143","GPR179","GRHL2","GRIK2","GRIN1","GRIN2D","GRIP1","GRK1","GRM6","GRM7","GRN","GRXCR2","GSN","GTF2E2","GTF2H5","GTF2I","GTF2IRD1","GTF2IRD2","GTPBP2","GTPBP3","GUCA1A","GUCA1B","GUCY2D","GUSB","H1-4","H3-3A","H4C3","H4C9","HADHA","HARS1","HCCS","HCN1","HCRT","HDAC4","HECW2","HESX1","HEXA","HEXB","HGD","HGSNAT","HIKESHI","HK1","HKDC1","HLA-A","HLA-B","HLA-DPA1","HLA-DPB1","HLA-DQB1","HLA-DRB1","HMCN1","HMX1","HPDL","HPS1","HPS3","HPS4","HPS5","HPS6","HRAS","HS6ST1","HSD17B10","HSD17B4","HSD3B7","HSPG2","HTRA2","IBA57","IDH3A","IDH3B","IDS","IFNGR1","IFT140","IFT172","IFT43","IFT74","IFT88","IGBP1","IKBKG","IKZF1","IL10","IL12A","IL12A-AS1","IL12B","IL17F","IL17RA","IL17RC","IL17RD","IL23R","IL2RA","IL2RB","IL6ST","IMPDH1","IMPG1","IMPG2","INPP5E","INVS","IQCB1","IQSEC1","ISCA2","ITGA2","ITGA2B","ITGB3","ITGB6","ITM2B","ITPR1","JAK2","KANSL1","KARS1","KAT6A","KCNA1","KCNA2","KCNAB2","KCNB1","KCND3","KCNJ13","KCNN2","KCNQ2","KCNT1","KCNV2","KCTD7","KERA","KIAA0586","KIAA1549","KIDINS220","KIF11","KIF14","KIF1A","KIF1C","KIF21A","KIF3B","KIF5A","KIZ","KLHL7","KLRC4","KMT2B","KMT2D","KRAS","KRT12","KRT14","KRT3","KRT5","LAMA1","LAMB2","LAMC3","LAMP2","LARGE1","LCA5","LCAT","LETM1","LIFR","LIM2","LIMK1","LMBRD2","LMNB1","LONP1","LRAT","LRIT3","LRMDA","LRP1","LRP2","LRP4","LRP5","LRPAP1","LRRK2","LSS","LTBP2","LUZP1","LYRM7","LYST","LZTFL1","MAB21L1","MACF1","MAD2L2","MAF","MAFB","MAG","MAGEL2","MAK","MALT1","MAP2K1","MAP2K2","MAP3K7","MAPK8IP3","MAPKAPK3","MAPT","MARCHF6","MARK3","MBD5","MBTPS2","MC1R","MCOLN1","MECR","MED12","MED25","MEFV","MEN1","MERTK","METTL27","MFF","MFN2","MFRP","MFSD8","MGME1","MICOS13","MICU1","MIR140","MIR184","MIR204","MITF","MKS1","MLH1","MLH3","MLX","MLXIPL","MMACHC","MMP1","MMP19","MMP23B","MOG","MORC2","MPDZ","MPL","MPLKIP","MSH2","MSH6","MSX2","MT-ATP6","MT-ATP8","MT-CO1","MT-CO2","MT-CO3","MT-CYB","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND4L","MT-ND5","MT-ND6","MT-TC","MT-TE","MT-TF","MT-TH","MT-TK","MT-TL1","MT-TL2","MT-TN","MT-TQ","MT-TS1","MT-TS2","MT-TV","MT-TW","MTFMT","MTHFS","MTOR","MTR","MTRFR","MTRR","MTTP","MUSK","MVK","MYO5A","MYO6","MYO7A","MYO9A","MYOC","NAA10","NAB2","NADK2","NAGA","NAPB","NARS2","NBAS","NCAPG2","NCF1","NDE1","NDN","NDNF","NDP","NDUFA1","NDUFA11","NDUFA6","NDUFAF1","NDUFAF2","NDUFAF3","NDUFAF4","NDUFAF5","NDUFAF8","NDUFB10","NDUFB11","NDUFB3","NDUFB9","NDUFS1","NDUFS2","NDUFS3","NDUFS4","NDUFS6","NDUFS7","NDUFS8","NDUFV1","NDUFV2","NECAP1","NEDD4L","NEK2","NEU1","NEUROD2","NF1","NF2","NFIX","NFKB2","NHLRC1","NHLRC2","NHS","NLRP1","NLRP3","NMNAT1","NOD2","NODAL","NOG","NOP56","NOTCH2NLC","NOTCH3","NPHP1","NPHP3","NPHP4","NPTX1","NR2E3","NR2F1","NR3C1","NRAS","NRL","NSMCE2","NTRK2","NUBPL","NUS1","NYX","OAT","OCA2","OCRL","OFD1","OGDHL","OGT","OPA1","OPA3","OPN1LW","OPN1MW","OPN1SW","OSGEP","OSTM1","OTX2","OVOL2","P2RY11","P3H2","P4HA2","P4HTM","PACS2","PAK2","PALB2","PANK2","PANK4","PARK7","PARS2","PAX2","PAX3","PAX6","PCARE","PCDH12","PCDH15","PCNA","PCYT1A","PCYT2","PDCD1","PDE4D","PDE6A","PDE6B","PDE6C","PDE6G","PDE6H","PDGFB","PDHA1","PDPN","PDSS2","PDXK","PDZD7","PDZD8","PEPD","PERCC1","PET100","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PEX7","PGAP1","PGK1","PHF6","PHGDH","PHOX2A","PHYH","PI4KA","PIEZO2","PIGA","PIGB","PIGN","PIGP","PIGQ","PIGS","PIGT","PIGU","PIGY","PIK3CA","PIK3R2","PIKFYVE","PINK1","PITPNM3","PITX2","PITX3","PLA2G5","PLA2G6","PLCB1","PLCD1","PLCH1","PLEKHM1","PLG","PLK4","PLOD1","PLXND1","PMPCB","PMS1","PMS2","PNPLA6","PNPT1","POC1B","PODXL","POGZ","POLA1","POLG","POLG2","POLH","POLR1A","POLR1B","POLR1C","POLR1D","POLR2A","POLR3GL","POMGNT1","POMK","POMT1","POMT2","PORCN","POU3F4","PPP1R12A","PPP2CA","PPP2R1A","PPP3CA","PPT1","PQBP1","PRCD","PRDM16","PRDM5","PRDX1","PRIMPOL","PRKCZ","PRKDC","PRKN","PRNP","PROK2","PROKR2","PROM1","PRORP","PROS1","PRPF3","PRPF31","PRPF4","PRPF6","PRPF8","PRPH2","PRPS1","PRR12","PRRT2","PRSS56","PRTN3","PRUNE1","PSAP","PSEN1","PSEN2","PSMD12","PTCH1","PTPN2","PTPN22","PUF60","PUM1","PUS3","PXDN","PYCR1","PYCR2","RAB11B","RAB18","RAB28","RAB3GAP1","RAB3GAP2","RAC1","RAD51","RAD51C","RALGAPA1","RAPSN","RAX2","RBP3","RBP4","RCBTB1","RD3","RDH11","RDH12","RDH5","REEP6","RERE","REV3L","RFC2","RFT1","RFWD3","RGR","RGS9","RGS9BP","RHO","RHOA","RIC1","RILPL1","RIMS1","RIMS2","RLBP1","RMRP","RNASEH1","RNF113A","RNF13","RNU12","RNU4ATAC","ROM1","RORA","RP1","RP1L1","RP2","RP9","RPE65","RPGR","RPGRIP1","RPGRIP1L","RPS20","RRAS2","RRM2B","RS1","RTN4IP1","SAG","SALL1","SALL2","SALL4","SAMD12","SAMD9L","SAR1B","SARDH","SATB1","SATB2","SCAPER","SCN1A","SCN2A","SCN3A","SCN4A","SCN8A","SCN9A","SCYL1","SDCCAG8","SDHA","SDHAF1","SDHB","SDHD","SELENOI","SEMA3A","SEMA3E","SEMA4A","SEPSECS","SERPINI1","SETBP1","SETD1A","SETD5","SF3B1","SF3B2","SFXN4","SH2B3","SH3BP2","SH3TC2","SHANK3","SHH","SIX3","SKI","SLC12A3","SLC12A5","SLC13A5","SLC18A3","SLC19A2","SLC1A2","SLC1A3","SLC24A1","SLC24A5","SLC25A1","SLC25A19","SLC25A22","SLC25A24","SLC25A4","SLC25A46","SLC2A1","SLC31A1","SLC35A2","SLC38A3","SLC38A8","SLC39A14","SLC39A4","SLC45A2","SLC4A11","SLC4A2","SLC52A2","SLC5A7","SLC6A19","SLC6A6","SLC7A14","SLX4","SMAD4","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SMC1A","SMCHD1","SMG9","SMO","SNAP25","SNAP29","SNCA","SNRNP200","SNRPN","SNX10","SOBP","SON","SORL1","SOST","SOX10","SOX11","SOX2","SOX3","SOX4","SPATA5","SPATA5L1","SPATA7","SPEN","SPG11","SPRY4","SPTBN1","SPTBN2","SPTBN4","SRD5A3","SREBF1","SRY","SSBP1","ST14","ST3GAL5","STAG2","STAT4","STAT6","STIL","STIM1","STOX1","STX1A","STX3","SUCLA2","SUFU","SUMF1","SUOX","SYNGAP1","SYNJ1","SYT1","SYT2","SZT2","TACR3","TACSTD2","TANGO2","TAOK1","TARS1","TASP1","TAT","TBC1D20","TBC1D24","TBC1D2B","TBCK","TBL2","TBX1","TCF4","TCIRG1","TCOF1","TDGF1","TDO2","TEK","TELO2","TENM3","TERT","TET2","TFE3","TFG","TGFB1","TGFBI","TGFBR2","TGFBR3","TGIF1","THOC2","THPO","THSD1","TIMM8A","TIMMDC1","TIMP3","TK2","TLCD3B","TLR4","TMEM126A","TMEM126B","TMEM138","TMEM216","TMEM231","TMEM237","TMEM240","TMEM270","TMEM53","TMEM67","TMEM98","TNF","TNFRSF11A","TNFSF11","TNFSF4","TOMM40","TOP3A","TOPORS","TP53","TP53RK","TP63","TPP1","TRAF3IP1","TRAF3IP2","TRAF7","TRAK1","TRANK1","TRAPPC11","TRAPPC12","TRAPPC2L","TRAPPC9","TREM2","TREX1","TRIM44","TRIO","TRIP13","TRNT1","TRPM1","TRRAP","TSEN15","TSEN2","TSEN34","TSEN54","TSFM","TSPAN12","TTC19","TTC8","TTLL5","TTPA","TTR","TUB","TUBA1A","TUBA3D","TUBB2B","TUBB3","TUBB4A","TUBB4B","TUBGCP2","TUBGCP4","TUBGCP6","TULP1","TWIST1","TWIST2","TWNK","TXNL4A","TYMP","TYR","UBA5","UBAC2","UBE2T","UBE4B","UCHL1","UFC1","UFM1","UNC119","UROD","UROS","USH1C","USH1G","USH2A","USP45","USP48","USP8","VAMP1","VAMP2","VCAN","VHL","VLDLR","VPS11","VPS13B","VPS13C","VPS35","VPS37D","VPS4A","VPS51","VRK1","VSX1","WAC","WARS2","WASF1","WDR11","WDR19","WDR26","WDR45","WDR45B","WDR81","WFS1","WHRN","WNT10A","WT1","WWOX","XPA","XPC","XRCC2","XRCC4","XYLT1","XYLT2","YAP1","YARS1","YEATS2","YIF1B","YME1L1","YWHAG","YY1","ZEB1","ZEB2","ZFHX4","ZFYVE26","ZIC2","ZMIZ1","ZNF365","ZNF408","ZNF423","ZNF469","ZNF513","ZNHIT3","ZPR1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_VISUAL_IMPAIRMENT":{"collection":"C5:HPO","systematicName":"M34764","pmid":"","exactSource":"HP:0000505","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000505","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VISUAL_IMPAIRMENT","geneSymbols":["AAAS","AARS1","ABCA1","ABCA4","ABCC6","ABCD1","ACO2","ACTB","ACVRL1","ADA2","ADAM9","ADAMTS10","ADAMTSL4","ADARB1","ADGRV1","ADNP","AFF3","AFF4","AFG3L2","AGBL1","AGBL5","AGO2","AGTPBP1","AHDC1","AHI1","AHR","AIFM1","AIMP1","AIP","AIPL1","AIRE","AKT1","AKT3","ALDH3A2","ALG2","ALG3","ALMS1","ALPK1","AMACR","AMPD2","ANGPTL6","ANKH","ANKRD11","ANKRD55","ANOS1","ANTXR1","AP1G1","AP1S2","AP3B1","AP3D1","AP4B1","AP4E1","AP4M1","AP4S1","APC","APOE","ARHGDIA","ARHGEF18","ARHGEF2","ARID1A","ARID1B","ARID2","ARL2","ARL2BP","ARL3","ARL6","ARMC9","ARNT2","ARPC4","ARSA","ARSG","ARX","ASB10","ASNS","ASPA","ASPH","ATF6","ATIC","ATN1","ATOH7","ATP1A2","ATP1A3","ATP5F1A","ATP5F1D","ATP5F1E","ATP5MK","ATP6V0A1","ATPAF1","ATPAF2","ATRX","ATXN7","B3GALNT2","B3GAT3","B3GLCT","B4GAT1","BAP1","BAZ1B","BBS1","BBS2","BBS5","BCL10","BCL7B","BCOR","BDNF","BEST1","BIRC3","BLOC1S3","BLOC1S5","BMP4","BMPR1A","BOLA3","BRAF","BRAT1","BRCA1","BRCA2","BRIP1","BTD","BTNL2","BUD23","C19orf12","C1QBP","C1QTNF5","C4A","CA2","CA4","CABP4","CACNA1A","CACNA1B","CACNA1D","CACNA1E","CACNA1F","CACNA1I","CACNA2D1","CACNA2D4","CAMK2A","CAMK2B","CAMSAP1","CAPN5","CARS2","CASK","CASZ1","CBS","CC2D2A","CCDC141","CCDC28B","CCDC47","CCND1","CCR1","CD109","CD247","CDC42","CDC42BPB","CDH23","CDH3","CDHR1","CDK8","CDKL5","CDON","CEACAM16","CEP120","CEP164","CEP250","CEP290","CEP41","CEP78","CEP85L","CERKL","CERT1","CFAP410","CFAP418","CFH","CFHR1","CFHR3","CFI","CHD3","CHD7","CHKA","CHM","CHMP1A","CHN1","CHP1","CHRDL1","CHST3","CHST6","CIB2","CKAP2L","CLCC1","CLCN2","CLCN4","CLCN6","CLCN7","CLEC3B","CLIP2","CLN3","CLN5","CLN6","CLN8","CLP1","CLRN1","CLTC","CNGA1","CNGA3","CNGB1","CNGB3","CNNM4","CNTNAP1","COG5","COL11A1","COL17A1","COL18A1","COL25A1","COL2A1","COL3A1","COL4A1","COL7A1","COL8A2","COL9A1","COL9A2","COL9A3","COPB2","COQ2","COQ7","COX11","COX6B1","COX7B","CPSF3","CRB1","CREBBP","CRLS1","CRPPA","CRX","CRYAA","CRYBB1","CRYGC","CSF1R","CSPP1","CTC1","CTLA4","CTNNA1","CTNNB1","CTNS","CTSD","CWC27","CYP1B1","CYP27A1","CYP4V2","CYSLTR2","D2HGDH","DCC","DCN","DCT","DDR2","DDX3X","DHDDS","DHX37","DHX38","DIAPH1","DISP1","DLAT","DLD","DLL1","DNAJC30","DNM1L","DNMBP","DOCK6","DOCK7","DOHH","DOLK","DPF2","DPM1","DPP6","DRAM2","DTNBP1","DTYMK","DUSP6","DYRK1A","EARS2","EBP","EFEMP1","EIF2B1","EIF2B3","EIF4H","ELMO2","ELN","ELOVL1","ELOVL4","ELP4","EMC1","ENG","ENPP1","EPCAM","EPM2A","EPRS1","ERAP1","ERCC1","ERCC2","ERCC4","ERCC5","ERCC6","ERCC8","ERF","ESPN","EXOSC3","EXOSC8","EXOSC9","EYS","FA2H","FAM161A","FAN1","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FARS2","FAS","FBN1","FBN2","FBXW7","FCSK","FDFT1","FDX2","FDXR","FEZF1","FGF12","FGF17","FGF8","FGFR1","FGFR2","FGFR3","FH","FIG4","FKBP6","FKRP","FKTN","FLNA","FLRT3","FLVCR1","FN1","FOXC1","FOXE3","FOXH1","FOXL2","FOXP1","FOXRED1","FRAS1","FREM2","FRMD7","FSCN2","FXN","FZD4","GABRA2","GABRB1","GABRB2","GABRD","GALC","GAS1","GATA1","GATA2","GDF2","GDF3","GDF6","GIPC3","GJA1","GJB2","GJB6","GLB1","GLI2","GLRX5","GLYCTK","GM2A","GMPPA","GMPPB","GNA11","GNAQ","GNAS","GNAT1","GNAT2","GNB1","GNB3","GNS","GP1BA","GP1BB","GPAA1","GPR101","GPR143","GPR179","GRHL2","GRIK2","GRIN1","GRIN2D","GRIP1","GRK1","GRM6","GRM7","GRN","GRXCR2","GSN","GTF2I","GTF2IRD1","GTF2IRD2","GTPBP2","GTPBP3","GUCA1A","GUCA1B","GUCY2D","GUSB","H1-4","H3-3A","H4C3","H4C9","HADHA","HARS1","HCCS","HDAC4","HECW2","HESX1","HEXA","HEXB","HGSNAT","HIKESHI","HK1","HKDC1","HLA-A","HLA-B","HLA-DPA1","HLA-DPB1","HLA-DQB1","HLA-DRB1","HMCN1","HMX1","HPDL","HPS1","HPS3","HPS4","HPS5","HPS6","HS6ST1","HSD17B10","HSD17B4","HSPG2","IBA57","IDH3A","IDH3B","IDS","IFNGR1","IFT140","IFT172","IFT43","IFT74","IFT88","IGBP1","IKBKG","IKZF1","IL10","IL12A","IL12A-AS1","IL17RD","IL23R","IL2RA","IL2RB","IMPDH1","IMPG1","IMPG2","INPP5E","INVS","IQCB1","IQSEC1","ISCA2","ITGA2","ITGA2B","ITGB3","ITM2B","ITPR1","JAK2","KANSL1","KARS1","KAT6A","KCNAB2","KCNJ13","KCNN2","KCNQ2","KCNT1","KCNV2","KCTD7","KERA","KIAA0586","KIAA1549","KIDINS220","KIF11","KIF14","KIF1A","KIF1C","KIF21A","KIF3B","KIF5A","KIZ","KLHL7","KLRC4","KMT2B","KMT2D","KRAS","KRT12","LAMA1","LAMB2","LAMC3","LAMP2","LARGE1","LCA5","LCAT","LETM1","LIM2","LIMK1","LMBRD2","LMNB1","LONP1","LRAT","LRIT3","LRMDA","LRP2","LRP5","LRPAP1","LSS","LTBP2","LUZP1","LYRM7","LYST","LZTFL1","MAB21L1","MACF1","MAD2L2","MAF","MAFB","MAG","MAK","MALT1","MAP3K7","MAPK8IP3","MAPKAPK3","MARK3","MBD5","MC1R","MCOLN1","MECR","MED12","MED25","MEFV","MEN1","MERTK","METTL27","MFF","MFN2","MFRP","MFSD8","MICOS13","MICU1","MIR140","MIR184","MIR204","MKS1","MLH1","MLH3","MLXIPL","MMACHC","MMP1","MMP19","MMP23B","MPDZ","MPL","MSH2","MSH6","MSX2","MT-ATP6","MT-ATP8","MT-CO1","MT-CO2","MT-CO3","MT-CYB","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND4L","MT-ND5","MT-ND6","MT-TC","MT-TE","MT-TF","MT-TH","MT-TK","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TV","MT-TW","MTFMT","MTHFS","MTOR","MTR","MTRFR","MTRR","MTTP","MYO7A","MYOC","NAA10","NADK2","NAGA","NAPB","NARS2","NBAS","NCAPG2","NCF1","NDE1","NDNF","NDP","NDUFA1","NDUFA11","NDUFA6","NDUFAF1","NDUFAF2","NDUFAF3","NDUFAF4","NDUFAF5","NDUFAF8","NDUFB10","NDUFB11","NDUFB3","NDUFB9","NDUFS1","NDUFS2","NDUFS3","NDUFS4","NDUFS6","NDUFS7","NDUFS8","NDUFV1","NDUFV2","NEDD4L","NEK2","NEU1","NEUROD2","NF1","NF2","NFIX","NHLRC1","NHLRC2","NHS","NLRP1","NLRP3","NMNAT1","NOD2","NODAL","NOG","NOTCH3","NPHP1","NPHP3","NPHP4","NR2E3","NR2F1","NR3C1","NRL","NSMCE2","NTRK2","NUBPL","NUS1","NYX","OAT","OCA2","OCRL","OFD1","OGDHL","OGT","OPA1","OPA3","OPN1LW","OPN1MW","OPN1SW","OSGEP","OSTM1","OTX2","OVOL2","P3H2","P4HA2","P4HTM","PAK2","PALB2","PANK2","PANK4","PARS2","PAX2","PAX6","PCARE","PCDH12","PCDH15","PCYT1A","PCYT2","PDE4D","PDE6A","PDE6B","PDE6C","PDE6G","PDE6H","PDGFB","PDHA1","PDPN","PDSS2","PDXK","PDZD7","PDZD8","PEPD","PET100","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PEX7","PGAP1","PGK1","PHF6","PHGDH","PHOX2A","PHYH","PI4KA","PIEZO2","PIGA","PIGB","PIGN","PIGP","PIGQ","PIGS","PIGT","PIGU","PIGY","PIK3CA","PIK3R2","PITPNM3","PITX2","PITX3","PLA2G5","PLA2G6","PLCB1","PLCH1","PLEKHM1","PLG","PLK4","PLOD1","PLXND1","PMPCB","PMS1","PMS2","PNPLA6","PNPT1","POC1B","POGZ","POLA1","POLG","POLG2","POLR1B","POLR1C","POLR1D","POLR2A","POLR3GL","POMGNT1","POMK","POMT1","POMT2","PORCN","POU3F4","PPP1R12A","PPP2CA","PPP2R1A","PPP3CA","PPT1","PQBP1","PRCD","PRDM16","PRDM5","PRDX1","PRIMPOL","PRKCZ","PRKDC","PRNP","PROK2","PROKR2","PROM1","PRORP","PROS1","PRPF3","PRPF31","PRPF4","PRPF6","PRPF8","PRPH2","PRPS1","PRR12","PRRT2","PRSS56","PRTN3","PRUNE1","PSAP","PSMD12","PTCH1","PTPN2","PTPN22","PUF60","PUS3","PXDN","PYCR2","RAB11B","RAB18","RAB28","RAB3GAP1","RAB3GAP2","RAC1","RAD51","RAD51C","RALGAPA1","RAX2","RBP3","RBP4","RCBTB1","RD3","RDH11","RDH12","RDH5","REEP6","RERE","REV3L","RFC2","RFT1","RFWD3","RGR","RGS9","RGS9BP","RHO","RHOA","RIC1","RIMS1","RIMS2","RLBP1","RMRP","RNASEH1","RNF13","RNU12","RNU4ATAC","ROM1","RORA","RP1","RP1L1","RP2","RP9","RPE65","RPGR","RPGRIP1","RPGRIP1L","RPS20","RRAS2","RRM2B","RS1","RTN4IP1","SAG","SALL2","SALL4","SAR1B","SARDH","SCAPER","SCN1A","SCN2A","SCN3A","SCN8A","SCYL1","SDCCAG8","SDHA","SDHAF1","SDHB","SDHD","SELENOI","SEMA3A","SEMA4A","SEPSECS","SETBP1","SETD1A","SETD5","SF3B1","SF3B2","SFXN4","SH3BP2","SH3TC2","SHANK3","SHH","SIX3","SKI","SLC12A5","SLC19A2","SLC1A3","SLC24A1","SLC24A5","SLC25A1","SLC25A19","SLC25A22","SLC25A4","SLC25A46","SLC31A1","SLC35A2","SLC38A3","SLC38A8","SLC39A14","SLC39A4","SLC45A2","SLC4A11","SLC4A2","SLC52A2","SLC6A6","SLC7A14","SLX4","SMAD4","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SMC1A","SMCHD1","SMG9","SMO","SNRNP200","SNRPN","SNX10","SOBP","SON","SOST","SOX10","SOX11","SOX2","SOX3","SOX4","SPATA5","SPATA5L1","SPATA7","SPEN","SPG11","SPRY4","SPTBN1","SPTBN4","SRD5A3","SREBF1","SRY","SSBP1","ST3GAL5","STAG2","STAT4","STIL","STX1A","STX3","SUCLA2","SUFU","SUMF1","SUOX","SYNJ1","SYT1","TACR3","TACSTD2","TANGO2","TAOK1","TASP1","TAT","TBC1D20","TBC1D24","TBC1D2B","TBCK","TBL2","TBX1","TCF4","TCIRG1","TCOF1","TDGF1","TDO2","TEK","TELO2","TENM3","TERT","TFE3","TFG","TGFBI","TGFBR2","TGFBR3","TGIF1","THOC2","THPO","THSD1","TIMM8A","TIMMDC1","TIMP3","TK2","TLCD3B","TLR4","TMEM126A","TMEM126B","TMEM138","TMEM216","TMEM231","TMEM237","TMEM270","TMEM53","TMEM67","TMEM98","TNFRSF11A","TNFSF11","TOPORS","TP53","TP53RK","TPP1","TRAF3IP1","TRAF7","TRAPPC11","TRAPPC12","TRAPPC2L","TREX1","TRIM44","TRIO","TRNT1","TRPM1","TRRAP","TSEN15","TSEN2","TSEN34","TSEN54","TSFM","TSPAN12","TTC8","TTLL5","TTPA","TTR","TUB","TUBA1A","TUBA3D","TUBB2B","TUBB3","TUBB4A","TUBB4B","TUBGCP2","TUBGCP4","TUBGCP6","TULP1","TWIST1","TWIST2","TWNK","TYR","UBAC2","UBE2T","UBE4B","UCHL1","UFC1","UFM1","UNC119","UROD","UROS","USH1C","USH1G","USH2A","USP45","USP48","USP8","VAMP2","VCAN","VHL","VPS11","VPS13B","VPS37D","VPS4A","VPS51","VRK1","VSX1","WAC","WARS2","WASF1","WDR11","WDR19","WDR26","WDR45","WDR45B","WFS1","WHRN","WT1","XRCC2","XRCC4","XYLT1","XYLT2","YAP1","YARS1","YIF1B","YME1L1","ZEB1","ZEB2","ZFHX4","ZFYVE26","ZIC2","ZMIZ1","ZNF408","ZNF423","ZNF469","ZNF513","ZNHIT3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_TELECANTHUS":{"collection":"C5:HPO","systematicName":"M34765","pmid":"","exactSource":"HP:0000506","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000506","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TELECANTHUS","geneSymbols":["ACTB","ACTG1","ADAMTS18","ADAMTS2","ADAT3","ADH5","AGO1","AKT3","ALG9","ALX4","ANKH","ANKLE2","ANKRD11","ARL3","ARVCF","ATP6V1B2","ATRX","B4GALT7","C2CD3","CCND2","CCNQ","CDH11","CDH2","CDK10","CDK13","CHRNG","CHST14","COL18A1","COL25A1","COL3A1","COLEC10","COLEC11","COMT","CREBBP","CRIPT","DDB1","DDHD2","DDX3X","DOCK7","DSE","DVL3","EBP","EDN3","EDNRB","EFNB1","EFTUD2","ETFA","ETFB","ETFDH","EXOSC1","FBN1","FGFR1","FGFR2","FLNA","FLNB","FOXC1","FOXL2","FOXP2","GJA1","GLI3","GNB2","GP1BB","GPRASP2","GRIA1","H1-4","HDAC8","HECW2","HHAT","HIRA","HNRNPR","HNRNPU","HRAS","IDH1","IFT122","IFT43","IFT52","IRX5","JMJD1C","KAT8","KCNH1","KCNMA1","KCNN3","KCTD1","KDM6B","KIFBP","KITLG","KMT2A","KRAS","LIG4","LMNA","LMX1B","MAFB","MAP2K2","MAP3K7","MASP1","MID1","MITF","MSL3","MUSK","MYH3","MYOD1","NEK1","NFIX","NOTCH2","NOTCH3","NRAS","NSD2","NSUN2","OFD1","OTUD5","PAX3","PIGL","PIGQ","PIGU","PIK3R1","PIK3R2","PITX2","PPP1R21","PQBP1","PTCH1","PTCH2","PTH1R","PURA","RAB23","RFX7","RNF125","RPS6KA3","RREB1","SEC24C","SKI","SLC26A2","SNAI2","SNX14","SOX10","SPATA5L1","SPOP","STAC3","STXBP1","SUFU","TAPT1","TBC1D2B","TBL1XR1","TBX1","TFAP2A","TLK2","TRPM3","TWIST2","TYR","UBE3B","UBR7","UFD1","USP9X","VPS33A","WDR35","XRCC4","YY1","ZBTB18","ZEB2","ZFHX4","ZMPSTE24","ZMYM2","ZNF148","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PTOSIS":{"collection":"C5:HPO","systematicName":"M34766","pmid":"","exactSource":"HP:0000508","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000508","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PTOSIS","geneSymbols":["AARS1","ABCC8","ABHD5","ACBD5","ACKR3","ACTA1","ACTB","ACTG1","ACTL6B","ADA2","ADAR","ADNP","ADPRS","AEBP1","AFF4","AFG3L2","AGRN","AHDC1","AHI1","AIP","AK9","AKT1","ALDH18A1","ALDOA","ALG14","ALG2","ALX1","ALX3","ANAPC7","ANKLE2","ANKRD11","ANO10","ANOS1","ANXA11","AP3B2","APC","ARHGEF2","ARID1A","ARID1B","ARID2","ARL13B","ARL3","ARMC9","ARV1","ARVCF","ASXL2","ATG7","ATP1A2","ATP1A3","ATP5F1A","ATP5F1D","ATP5F1E","ATP5MK","ATP6V1A","ATP6V1B2","ATPAF1","ATPAF2","ATRX","ATXN3","AUTS2","B3GLCT","B9D1","B9D2","BAP1","BCAS3","BCOR","BCS1L","BDNF","BIN1","BPTF","BRAF","BRCA1","BRCA2","BRCC3","BRD4","BRIP1","BRPF1","C1QBP","CACNA1A","CACNA1B","CACNA2D1","CAPN15","CBL","CBY1","CC2D2A","CCDC115","CCDC141","CCDC47","CDC42","CDC42BPB","CDH11","CDH23","CDK13","CDK19","CDK8","CELF2","CEP104","CEP120","CEP290","CEP41","CERT1","CFL2","CHAT","CHCHD10","CHD4","CHD7","CHD8","CHN1","CHRNA1","CHRNB1","CHRND","CHRNE","CHRNG","CLCN3","CLTC","CNKSR2","CNP","CNTNAP1","COA8","COL13A1","COL1A2","COL25A1","COL2A1","COL3A1","COL9A3","COLEC10","COLEC11","COLQ","COMT","COQ2","COQ8A","COX10","CPLANE1","CPLX1","CREBBP","CSNK2A1","CSPP1","CTBP1","CYC1","CYFIP2","DALRD3","DARS2","DBH","DCC","DCHS1","DDC","DDX59","DGUOK","DHCR7","DHDDS","DHX37","DIS3L2","DLAT","DNA2","DNM1","DNM1L","DNM2","DOK7","DPAGT1","DPF2","DUSP6","DVL1","DVL3","EARS2","ECEL1","EDEM3","EDN1","EDNRB","EED","EEF1A2","ELN","EMD","EP300","EPG5","ERBB2","ERBB3","ERCC4","ERF","ESCO2","EXOC8","FAM149B1","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FAR1","FARS2","FAT4","FBLN5","FBN1","FBXL3","FBXO28","FDX2","FEZF1","FGD1","FGF10","FGF12","FGF13","FGF17","FGF8","FGFR1","FGFR2","FGFR3","FGFRL1","FHL1","FLI1","FLNA","FLRT3","FOXC2","FOXL2","FOXP1","FOXRED1","FUS","FZD2","FZR1","GABBR2","GABRA2","GABRA5","GABRB2","GABRG2","GATA1","GATA3","GBA1","GCK","GFER","GFPT1","GIPC1","GLE1","GLI3","GMPPA","GMPPB","GNAI3","GNB2","GP1BB","GPC4","GPRASP2","GRIA3","GRIN2D","GRM1","GSN","H4C3","HCN1","HDAC8","HEATR3","HECW2","HESX1","HIRA","HK1","HLA-B","HLA-DRB1","HMGB3","HNRNPK","HOXB1","HPGD","HRAS","HS6ST1","HSPG2","HUWE1","HYLS1","IARS2","IDS","IDUA","IER3IP1","IFIH1","IFT74","IGF1","IL17RD","INPP5E","INS","IPO8","IREB2","ISCU","ITCH","JAG2","JARID2","JMJD1C","KANSL1","KAT6A","KATNIP","KBTBD13","KCNA2","KCNB1","KCNH1","KCNJ11","KCNN2","KDM1A","KDM5B","KDM6A","KIAA0586","KIAA0753","KIF11","KIF1B","KIF21A","KIF5A","KIFBP","KITLG","KLHL41","KMT2A","KMT2B","KMT2D","KRAS","LAMB2","LETM1","LGI4","LIG3","LIG4","LMNA","LMOD3","LMX1B","LONP1","LRP12","LRP4","LSM11","LYRM7","LZTR1","MAD2L2","MAF","MAFB","MAP2K1","MAP2K2","MAP3K7","MAPK1","MAPRE2","MARK3","MASP1","MBTPS2","MECP2","MED12","MED12L","MED13L","MED25","MEN1","MGME1","MICU1","MID1","MID2","MINPP1","MITF","MKS1","MRAS","MRPS28","MRPS34","MT-ATP6","MT-ATP8","MT-ND1","MT-ND2","MT-ND3","MT-TL1","MT-TL2","MT-TN","MT-TS1","MTMR14","MTRFR","MTSS2","MTTP","MUSK","MYF5","MYF6","MYH2","MYH3","MYH8","MYL2","MYMK","MYMX","MYO18B","MYO9A","MYOD1","MYPN","NAA10","NALCN","NARS2","NDNF","NDUFA1","NDUFA11","NDUFA6","NDUFAF1","NDUFAF2","NDUFAF3","NDUFAF4","NDUFAF5","NDUFAF8","NDUFB10","NDUFB11","NDUFB3","NDUFB9","NDUFS1","NDUFS2","NDUFS3","NDUFS4","NDUFS6","NDUFS7","NDUFS8","NDUFV1","NDUFV2","NEB","NECAP1","NEFL","NELFA","NF1","NGLY1","NIPBL","NOG","NOP56","NOTCH2NLC","NOTCH3","NOVA2","NPHP1","NPTX1","NRAS","NSD2","NSUN2","NTRK2","NUBPL","NUS1","NUTM2B-AS1","NXN","ODC1","OFD1","OGDHL","OPA1","P4HA2","PABPN1","PACS1","PACS2","PAH","PALB2","PARS2","PAX3","PAX6","PAX7","PDE4D","PDE6D","PDGFRB","PDHA1","PDX1","PDZD8","PEPD","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PEX7","PHF6","PHIP","PHOX2A","PHYH","PIBF1","PIEZO2","PIGG","PIGL","PIGQ","PIK3R2","PLCB4","PLEC","PLOD1","PLXNA1","PLXND1","POLG","POLG2","POLRMT","PPP1CB","PPP1R12A","PPP2R5D","PPP3CA","PRDX3","PREPL","PRMT7","PROK2","PROKR2","PRPS1","PRR12","PSAP","PSMD12","PTEN","PTPN11","PTPN22","PTS","PUF60","PUM1","PURA","PYROXD1","QRICH1","RAB3GAP1","RAD21","RAD51","RAD51C","RAF1","RALA","RAPSN","RASA2","RB1","RBCK1","RBM8A","RERE","REV3L","RFWD3","RILPL1","RIT1","RNASEH1","RNASEH2A","RNASEH2B","RNASEH2C","RNU12","RNU7-1","ROBO1","ROR2","RPGRIP1L","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS7","RRAS","RRAS2","RREB1","RRM2B","RSPRY1","RYR1","SALL4","SAMHD1","SBF2","SC5D","SCN3A","SCN4A","SCN8A","SCO2","SDHA","SEC24C","SECISBP2","SEMA3A","SEMA3E","SEPTIN9","SETBP1","SETD5","SF3B2","SF3B4","SGPL1","SHANK3","SHOC2","SIAH1","SIX2","SKI","SLC12A6","SLC13A5","SLC17A5","SLC18A2","SLC18A3","SLC19A3","SLC1A2","SLC25A1","SLC25A4","SLC30A9","SLC38A3","SLC3A1","SLC52A3","SLC5A7","SLC6A8","SLC6A9","SLCO2A1","SLX4","SMAD4","SMARCA2","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SMC1A","SMC3","SMS","SNAI2","SNAP25","SOS1","SOS2","SOST","SOX10","SOX11","SOX4","SPECC1L","SPR","SPRED1","SPRED2","SPRY4","SQSTM1","STAC3","STAMBP","STAT3","SUCLA2","SUCLG1","SUFU","SURF1","SYNE1","SYNE2","SYNGAP1","SYNJ1","SYT2","SZT2","TAB2","TACR3","TAF8","TARDBP","TBC1D20","TBC1D24","TBC1D2B","TBK1","TBX1","TCF12","TCOF1","TCTN1","TCTN2","TCTN3","TENM3","TET3","TFAP2A","TFAP2B","TFE3","TGFB2","TGFB3","TGIF1","TH","THUMPD1","TIMMDC1","TK2","TLK2","TMCO1","TMEM107","TMEM126B","TMEM138","TMEM216","TMEM218","TMEM231","TMEM237","TMEM43","TMEM67","TMLHE","TNPO3","TOGARAM1","TOP3A","TOR1A","TP63","TPM2","TPM3","TRAF7","TRAK1","TREX1","TRIO","TRPM3","TSPOAP1","TSR2","TTN","TTR","TUBA1A","TUBB2B","TUBB3","TUBB6","TWIST1","TWNK","TYMP","TYMS","TYR","UBA1","UBA5","UBE2T","UBE3B","UBR7","UFD1","UGDH","UNC80","VAMP1","VARS2","VCP","WDR11","WDR35","WDR73","WFS1","WNT5A","WT1","WWOX","XRCC2","YAP1","YARS2","YWHAG","YY1","ZBTB20","ZC4H2","ZEB2","ZFHX4","ZIC1","ZMIZ1","ZMYND11","ZNF407","ZNF423","ZNF462","ZNF699","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CONJUNCTIVITIS":{"collection":"C5:HPO","systematicName":"M47033","pmid":"","exactSource":"HP:0000509","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000509","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONJUNCTIVITIS","geneSymbols":["AARS1","AEBP1","AIRE","AP1B1","BLNK","BTD","BTK","BTNL2","C4A","CARS1","CCR1","CD19","CD79A","CD79B","COL17A1","COL7A1","CR2","DDB2","DKC1","DNASE1L3","ERAP1","ERCC1","ERCC2","ERCC3","ERCC4","ERCC6","ERCC8","ERF","FAS","FBN1","FERMT1","FGF10","FGFR2","FGFR3","FOXC2","GATA1","GJB2","GJB6","GNAS","GSN","GTF2E2","GTF2H5","HLA-B","HLA-DRB1","HLCS","IARS2","ICOS","IFNGR1","IGHM","IGLL1","IGSF3","IKZF1","IL10","IL12A","IL12A-AS1","IL23R","KAT6A","KLRC4","LBR","LRBA","LRRC8A","MAB21L1","MBTPS2","MEFV","MMP1","MPLKIP","MTTP","NLRP1","NLRP3","NOD2","PAX1","PIK3R1","PLG","POLH","PSMB4","PSMB8","PSMB9","RAG1","RAG2","RECQL","RNF113A","RNF125","SAMD9","SCN9A","SLC39A4","SLC39A7","SPI1","SREBF1","STAT4","STX11","STX16","TARS1","TCF3","TFRC","TKT","TLR4","TNFRSF13B","TNFRSF13C","TNFRSF1A","TP63","UBAC2","UROD","UROS","USB1","VPS33A","WAS","WIPF1","XPA","XPC"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ROD_CONE_DYSTROPHY":{"collection":"C5:HPO","systematicName":"M34767","pmid":"","exactSource":"HP:0000510","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000510","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ROD_CONE_DYSTROPHY","geneSymbols":["ABCA4","ABHD12","ACBD5","ACOX1","ADGRV1","AGBL5","AHR","AIPL1","ALG6","AMACR","AP3B2","APOB","ARL2","ARL2BP","ARL3","ARL6","ASPA","ATP2B2","ATP5F1A","ATP5F1D","ATP5F1E","ATP5MK","ATPAF1","ATPAF2","ATXN2","BBIP1","BBS1","BBS10","BBS12","BBS2","BBS4","BBS5","BBS7","BBS9","BCS1L","BEST1","CC2D2A","CCDC103","CCDC28B","CCDC39","CCDC40","CCDC65","CCNO","CDH23","CDHR1","CEP290","CERKL","CFAP221","CFAP298","CFAP300","CFAP410","CFAP418","CFAP74","CIB2","CLDN19","CLN3","CLRN1","CNGA1","CNGB1","COQ2","CRB1","CRX","CTSD","CWC27","DHDDS","DHX38","DNAAF1","DNAAF11","DNAAF2","DNAAF3","DNAAF4","DNAAF5","DNAAF6","DNAH1","DNAH11","DNAH5","DNAH9","DNAI1","DNAI2","DNAJB13","DNAL1","DPAGT1","DRC1","DYNC2I2","EXOSC2","EYS","FAM161A","FDXR","FLVCR1","FOXJ1","FSCN2","GAS2L2","GAS8","GATA3","GGCX","GNAT1","GRK1","GUCA1B","HGSNAT","HK1","HMX1","HSD17B10","HSPD1","HYDIN","IDH3B","IFT140","IFT172","IFT27","IFT74","IMPDH1","IMPG2","IQCB1","KIF3B","KIF5A","KIZ","KLHL7","LRAT","LRRC56","LZTFL1","MAK","MAPKAPK3","MCIDAS","MDH2","MERTK","MKKS","MKS1","MSRB3","MT-ATP6","MT-ATP8","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND5","MT-ND6","MT-TK","MT-TL1","MT-TV","MT-TW","MTTP","MVK","MYO6","MYO7A","NDUFA1","NDUFA9","NEK10","NEK2","NME5","NME8","NPHP4","NR2E3","NRL","ODAD1","ODAD2","ODAD3","ODAD4","OFD1","PANK2","PCARE","PCDH15","PDE6A","PDE6B","PDE6G","PDZD7","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PEX7","PHYH","PMM2","POGZ","PPP2R3C","PRCD","PROM1","PRPF3","PRPF31","PRPF4","PRPF6","PRPF8","PRPH2","PRPS1","RBP3","RDH11","REEP6","RGR","RHO","RLBP1","ROM1","RP1","RP2","RP9","RPE65","RPGR","RPL10","RRM2B","RSPH1","RSPH3","RSPH4A","RSPH9","SAG","SDCCAG8","SEMA4A","SH2B1","SLC35A2","SLC7A14","SNRNP200","SPAG1","SPEF2","SRD5A3","STK36","TELO2","TMEM67","TOPORS","TRAF3IP1","TRIP13","TRNT1","TTC12","TTC8","TULP1","USH1C","USH1G","USH2A","WARS2","WDR19","WHRN","ZMYND10","ZNF408","ZNF513"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_VERTICAL_SUPRANUCLEAR_GAZE_PALSY":{"collection":"C5:HPO","systematicName":"M34768","pmid":"","exactSource":"HP:0000511","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000511","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VERTICAL_SUPRANUCLEAR_GAZE_PALSY","geneSymbols":["AASS","ACOX2","AGTPBP1","ALDH4A1","ATP13A2","ATXN1","CCDC88C","DCTN1","DLAT","EIF2AK2","FTL","KCNC3","MAPT","MTFMT","NAXE","NEK9","NOP56","NPC1","NPC2","PIGT","PLA2G6","PLP1","POLG","POLR3A","POLR3B","SPG7","SQSTM1","TWNK","VPS13A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_ELECTRORETINOGRAM":{"collection":"C5:HPO","systematicName":"M34769","pmid":"","exactSource":"HP:0000512","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000512","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ELECTRORETINOGRAM","geneSymbols":["ABCA4","ACOX1","ADAR","ADGRV1","AGBL5","AGK","AHI1","AHR","AIPL1","ALG3","ARHGEF18","ARL2BP","ARL3","ARL6","ARSG","ATF6","BBIP1","BBS1","BBS10","BBS12","BBS2","BBS4","BBS5","BBS7","BBS9","BEST1","CA4","CABP4","CACNA1F","CACNA2D4","CAPN5","CC2D2A","CDH23","CDHR1","CEP104","CEP19","CEP290","CEP78","CERKL","CFAP418","CHM","CIB2","CLCC1","CLN3","CLN8","CLRN1","CNGA1","CNGA3","CNGB1","CNGB3","COL25A1","CRB1","CRX","CWC27","CYP4V2","DHDDS","DHX38","EMC1","ESPN","EYS","FAM161A","FLVCR1","FSCN2","GDF6","GNAT1","GNAT2","GNB3","GNB5","GPR179","GRK1","GRM6","GUCA1A","GUCA1B","GUCY2D","HADHA","HARS1","HGSNAT","HSD17B4","IDH3A","IDH3B","IDS","IFT140","IFT172","IFT27","IFT74","IFT88","IMPDH1","IMPG1","IMPG2","IQCB1","KCNJ13","KIAA1549","KIF21A","KIF3B","KIZ","KLHL7","LARGE1","LCA5","LRAT","LRIT3","LRTOMT","LZTFL1","MAK","MCOLN1","MERTK","MFRP","MKKS","MKS1","MT-ATP6","MT-TS2","MYO7A","NEK2","NMNAT1","NOTCH3","NPHP1","NR2E3","NRL","NUP54","NUP62","NYX","OFD1","OPN1LW","OPN1MW","OPN1SW","PCARE","PCDH15","PCYT1A","PDE6A","PDE6B","PDE6C","PDE6D","PDE6G","PDE6H","PDZD7","PEX1","PEX12","PHOX2A","PIEZO2","PNPLA6","POGZ","POMGNT1","PPT1","PRCD","PROM1","PRPF3","PRPF31","PRPF4","PRPF6","PRPF8","PRPH2","RBP3","RD3","RDH12","RDH5","REEP6","RGR","RHO","RLBP1","RNF216","ROM1","RP1","RP1L1","RP2","RP9","RPE65","RPGR","RPGRIP1","RS1","SAG","SCAPER","SCLT1","SDCCAG8","SEMA4A","SLC24A1","SLC25A4","SLC7A14","SNRNP200","SPATA7","SSBP1","SUCLA2","TIMM8A","TIMP3","TKFC","TLCD3B","TOPORS","TPP1","TRIM32","TRPM1","TTC8","TTLL5","TUB","TUBA1A","TUBB2B","TUBB3","TUBB4B","TULP1","UCHL1","USH1C","USH1G","USH2A","USP45","VSX1","WDPCP","WHRN","WWOX","ZNF408","ZNF513","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SLOW_SACCADIC_EYE_MOVEMENTS":{"collection":"C5:HPO","systematicName":"M34770","pmid":"","exactSource":"HP:0000514","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000514","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SLOW_SACCADIC_EYE_MOVEMENTS","geneSymbols":["AFG3L2","AGTPBP1","ALS2","ANO10","ATP13A2","ATP2B3","ATXN1","ATXN2","ATXN7","ATXN8OS","CHP1","COQ5","DARS2","DHX16","ELOVL5","FBXO7","GBA1","GJC2","MAPT","MECR","MRE11","NDUFA13","NOP56","PDYN","PEX2","PIK3R5","PLD3","PRNP","SCP2","SHMT2","SLC44A1","SNCA","SYT2","TGM6","TMEM240","TNR","VAMP1","VPS13A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_LENS_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M34771","pmid":"","exactSource":"HP:0000517","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000517","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LENS_MORPHOLOGY","geneSymbols":["AARS1","AASS","ABCA12","ABCA2","ABCA4","ABCD1","ABHD12","ABHD5","ACADS","ACTB","ADA2","ADAMTS10","ADAMTS17","ADAMTS18","ADAMTSL4","ADGRV1","ADNP","AFF4","AGA","AGBL5","AGK","AHI1","AHR","AIPL1","AIRE","AKT1","ALDH18A1","ALDH6A1","ALDOB","ALG2","ALG3","ALG8","ALMS1","ALX1","ALX3","AMACR","AMER1","AMMECR1","ANAPC1","ANKRD55","ANO1","ANO10","AP1S1","APC","APC2","APOA1","ARCN1","ARHGAP31","ARHGEF18","ARL2","ARL2BP","ARL3","ARL6","ARPC4","ARSG","ARSL","ARVCF","ASPH","ATAD3A","ATOH7","ATP11A","ATP5F1A","ATP5F1D","ATP5F1E","ATP5MK","ATP6V1A","ATP6V1B2","ATP8A2","ATPAF1","ATPAF2","B3GALNT2","B3GALT6","B3GLCT","B4GALNT1","B4GAT1","B9D1","B9D2","BAP1","BAZ1B","BBIP1","BBS1","BBS2","BBS9","BCAP31","BCL7B","BCOR","BCS1L","BDNF","BEST1","BFSP1","BFSP2","BLTP1","BMP4","BRCA1","BRCA2","BRCC3","BRD4","BRF1","BRIP1","BTNL2","BUB1","BUB1B","BUB3","BUD23","C12orf57","C4A","CA4","CA8","CARS1","CASK","CASZ1","CAV1","CBS","CC2D2A","CCDC28B","CCR1","CD247","CDH11","CDH23","CDHR1","CENPF","CEP164","CEP290","CEP57","CEP78","CERKL","CFAP410","CFAP418","CHD7","CHMP4B","CHRDL1","CHSY1","CIB2","CLIP2","CLN3","CLPB","CLRN1","CNBP","CNGA1","CNGB1","CNGB3","COG4","COL11A1","COL11A2","COL18A1","COL25A1","COL2A1","COL4A1","COL4A3","COL4A4","COL4A5","COL4A6","COL5A1","COL7A1","COL9A1","COL9A2","COL9A3","COMT","COPB1","COQ6","COX7B","CPAMD8","CPT2","CRB1","CREBBP","CRPPA","CRX","CRYAA","CRYAB","CRYBA1","CRYBA2","CRYBA4","CRYBB1","CRYBB2","CRYBB3","CRYGB","CRYGC","CRYGD","CRYGS","CSPP1","CTC1","CTDP1","CTNNB1","CYP1B1","CYP27A1","CYP7B1","CYSLTR2","DACT1","DAG1","DDB2","DGUOK","DHCR7","DHDDS","DHX38","DKC1","DLL4","DMPK","DNAJC30","DNM1L","DNMBP","DNMT1","DOCK6","DPAGT1","DSG4","DYNC2H1","DYNC2I1","DYNC2I2","DYRK1A","EBP","EED","EFEMP2","EHMT1","EIF2B2","EIF4H","ELN","ELP4","ENTPD1","EOGT","EP300","EPCAM","EPG5","EPHA2","ERAP1","ERCC1","ERCC2","ERCC3","ERCC4","ERCC5","ERCC6","ERCC8","ESCO2","ESPN","ETFA","ETFB","ETFDH","EYS","FAM111A","FAM111B","FAM161A","FAM50A","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FAR1","FAS","FBLN5","FBN1","FBN2","FBXL4","FBXW11","FDXR","FGF3","FGF5","FH","FIBP","FIG4","FKBP6","FKRP","FKTN","FLI1","FLNA","FLNB","FLVCR1","FOXC1","FOXC2","FOXE3","FSCN2","FTL","FYCO1","FZD4","GABRD","GALK1","GALM","GALT","GATA1","GBA2","GCNT2","GDF6","GEMIN4","GFER","GJA1","GJA3","GJA5","GJA8","GJB3","GJB4","GJB6","GLA","GMPPB","GNA11","GNAQ","GNAS","GNPAT","GP1BB","GSN","GSR","GTF2E2","GTF2H5","GTF2I","GTF2IRD1","GTF2IRD2","GTPBP2","GUCA1B","GUCY2D","HARS1","HCCS","HDAC8","HEATR3","HGSNAT","HIRA","HLA-A","HLA-B","HLA-DRB1","HMX1","HNRNPA1","HNRNPA2B1","HNRNPDL","HS2ST1","HSF4","HSPA9","HSPG2","HTRA2","HYCC1","IARS2","IDH1","IDH3A","IDH3B","IFNGR1","IFT140","IFT172","IFT80","IFT88","IKBKG","IL10","IL12A","IL12A-AS1","IL23R","IL2RA","IL2RB","IMPDH1","IMPG1","IMPG2","INPP5E","INPP5K","INTS1","INVS","IQCB1","ITM2B","ITPA","JAG1","JAM3","JMJD1C","KANSL1","KCNA4","KCNAB2","KCNH1","KCNJ13","KCNMA1","KCNN3","KCTD1","KDSR","KIAA1549","KIF11","KIF21A","KIZ","KLHL7","KLLN","KLRC4","KMT2C","KRT25","KRT71","KRT74","KRT81","KRT83","KRT86","LAMB1","LAMB2","LARGE1","LAS1L","LCA5","LEMD2","LETM1","LIG3","LIG4","LIM2","LIMK1","LIPH","LMBRD2","LMNA","LMX1B","LONP1","LOXL1","LOXL3","LPAR6","LRAT","LRP2","LRP4","LRP5","LSS","LTBP1","LTBP2","LUZP1","LZTR1","MAB21L2","MAD2L2","MAF","MAFA","MAK","MAN2B1","MAP2K2","MAPKAPK5","MAX","MBTPS1","MECP2","MED11","MED25","MED27","MEFV","MERTK","METTL27","MFRP","MINPP1","MIP","MIPEP","MIR184","MIR204","MITF","MKS1","MLXIPL","MMP1","MMP23B","MOCS1","MOCS2","MORC2","MPLKIP","MRPS28","MSMO1","MT-ATP6","MT-ATP8","MT-CO1","MT-CO2","MT-CO3","MT-CYB","MT-ND1","MT-ND5","MT-ND6","MT-TC","MT-TE","MT-TF","MT-TK","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TV","MT-TW","MTAP","MVK","MYH9","MYMK","MYO7A","MYSM1","NAA10","NACC1","NAGA","NAXD","NCF1","NDP","NDUFB11","NEK2","NEK9","NEU1","NF2","NHP2","NHS","NIPBL","NMNAT1","NOD2","NOP10","NOTCH1","NOTCH2","NPHP1","NPHP3","NPHP4","NPM1","NR2E3","NRCAM","NRL","NSD1","NSUN2","NUP188","OAT","OCLN","OCRL","OFD1","OPA1","OPA3","OTX2","P3H2","PAH","PAK2","PALB2","PANK4","PARN","PAX2","PAX6","PCARE","PCDH15","PCYT1A","PDE6A","PDE6B","PDE6G","PDPN","PDZD7","PERCC1","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PEX7","PHF6","PHGDH","PHOX2A","PHYH","PIGY","PIK3C2A","PIK3CA","PIK3R1","PITX2","PITX3","PLCG2","PLK4","PLOD3","PMM2","PNPLA6","PNPT1","POLG","POLG2","POLR1B","POLR1C","POLR1D","POLR3A","POLR3GL","POMGNT1","POMGNT2","POMK","POMT1","POMT2","PORCN","PQBP1","PRCD","PRDM16","PRG4","PRIM1","PRKAG2","PRKCZ","PROM1","PRPF3","PRPF31","PRPF4","PRPF6","PRPF8","PRPH2","PRR12","PRUNE1","PSAT1","PSMC3","PTCH1","PTCH2","PTEN","PTH","PTH1R","PTPN2","PTPN22","PXDN","PYCR1","RAB18","RAB3GAP1","RAB3GAP2","RAD21","RAD51","RAD51C","RALGAPA1","RB1","RBM8A","RBP3","RBPJ","RD3","RDH11","RDH12","RDH5","RECQL4","REEP6","RERE","RET","RFC2","RFWD3","RGR","RHO","RHOA","RIC1","RLBP1","RNF113A","RNF13","ROM1","RP1","RP1L1","RP2","RP9","RPE65","RPGR","RPGRIP1","RPGRIP1L","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS6KA3","RPS7","RREB1","RRM2B","RS1","RSPO2","RTEL1","RTN4IP1","RXYLT1","SAG","SALL1","SALL2","SALL4","SBF2","SC5D","SCAPER","SDCCAG8","SDHB","SDHC","SDHD","SEC23A","SEC23B","SEC24C","SEC31A","SEMA4A","SETD2","SF3B1","SHROOM4","SIL1","SIN3A","SIPA1L3","SIX6","SKI","SLC16A12","SLC25A13","SLC25A4","SLC2A1","SLC33A1","SLC40A1","SLC4A4","SLC7A14","SLF2","SLX4","SMAD3","SMAD4","SMARCB1","SMC1A","SMC3","SMC5","SMCHD1","SMG8","SMPX","SNRNP200","SOX2","SPATA7","SPEN","SPRED1","SPRTN","SPTBN1","SPTLC1","SRD5A3","SREBF1","STAT4","STX16","STX1A","SUFU","SUMF1","SUOX","TAOK1","TAP1","TAP2","TAPBP","TARS1","TBC1D20","TBC1D24","TBL2","TBR1","TBX1","TCOF1","TCTN1","TCTN2","TCTN3","TDRD7","TELO2","TERC","TERT","TFAP2A","TGFB2","TGFBI","TGFBR1","TGFBR2","TGM3","TINF2","TKFC","TKT","TLR4","TMEM107","TMEM127","TMEM216","TMEM231","TMEM237","TMEM270","TMEM67","TMEM70","TMTC3","TONSL","TOPORS","TRAF3IP1","TRAPPC11","TRIM44","TRIP13","TRPM3","TRPV4","TSPAN12","TSR2","TTC8","TUB","TUBA1A","TUBB2B","TUBB3","TUBB4B","TUBG1","TUBGCP6","TULP1","TWNK","TXNDC15","TYMS","UBA5","UBAC2","UBE2A","UBE2T","UBE4B","UFD1","UNC45B","USB1","USF3","USH1C","USH1G","USH2A","USP45","USP9X","VAC14","VCAN","VCP","VHL","VIM","VLDLR","VPS37D","VPS4A","VSX2","WDR19","WDR35","WDR73","WDR81","WFS1","WHRN","WNT3","WRAP53","WRN","WT1","XPA","XPC","XRCC2","XRCC4","XYLT2","YAP1","ZBTB20","ZEB2","ZNF335","ZNF408","ZNF513","ZNF526"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DEVELOPMENTAL_CATARACT":{"collection":"C5:HPO","systematicName":"M34772","pmid":"","exactSource":"HP:0000519","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000519","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEVELOPMENTAL_CATARACT","geneSymbols":["AARS1","ABCA2","ADA2","AGK","ALDH18A1","ANAPC1","ARPC4","ATAD3A","ATOH7","BCOR","BEST1","BFSP2","CARS1","CAV1","COL18A1","COL4A1","COL4A5","CRYAA","CRYAB","CRYBA1","CRYBA2","CRYBB1","CRYBB2","CRYBB3","CRYGB","CRYGC","CRYGD","CTDP1","DOCK6","DPAGT1","EHMT1","ELN","ENTPD1","EPG5","EPHA2","ERCC1","ERCC2","ERCC3","ERCC6","ERCC8","ETFA","ETFB","ETFDH","FAM111A","FAR1","FBLN5","FZD4","GATA1","GCNT2","GFER","GTF2E2","GTF2H5","HEATR3","HMX1","HSPG2","HYCC1","IARS2","IDH1","KANSL1","KCNA4","KCTD1","KMT2C","LARGE1","LMNA","LONP1","LSS","MAF","MAFA","MAX","MED25","MIR204","MPLKIP","MSMO1","MT-CO1","MT-CO2","MT-CO3","MT-CYB","MT-ND1","MT-ND5","MT-ND6","MT-TC","MT-TF","MT-TK","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TV","MT-TW","NDP","NEU1","NHS","NUP188","OCRL","PAX6","PEX11B","PEX5","PEX7","PHGDH","PIGY","PIK3C2A","PITX3","PNPT1","POMT1","PSMC3","RAB18","RAB3GAP1","RAB3GAP2","RECQL4","RET","RIC1","RNF113A","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS7","SDHB","SDHD","SEC31A","SIL1","SIPA1L3","SLC33A1","SMC5","TARS1","TBC1D20","TELO2","TKT","TMEM127","TSR2","UBE2A","VHL","VPS4A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PROPTOSIS":{"collection":"C5:HPO","systematicName":"M34773","pmid":"","exactSource":"HP:0000520","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000520","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROPTOSIS","geneSymbols":["ABCA12","ADAMTS10","AFF4","AKT1","ALG9","ALPL","AP3B2","APC","ASPM","ASXL1","ASXL2","ASXL3","ATXN3","AUTS2","B3GALT6","B3GAT3","B4GALT7","BANF1","BAP1","BGN","BPNT2","BRAF","BRCA1","BRCA2","BRIP1","CACNA1C","CANT1","CBL","CDC45","CDH11","CDK5RAP2","CDKN1C","CDON","CHST3","CITED2","CKAP2L","CLP1","COG1","COG4","COL11A1","COL11A2","COL1A1","COL2A1","COL3A1","CPLX1","CREBBP","CRIPT","CRTAP","CSGALNACT1","CTBP1","CTLA4","CTSK","CYP27A1","DDR2","DHCR7","DPYSL5","DVL1","DVL3","DYNC1I2","EFEMP2","ELMO2","EP300","ERCC4","ERF","ESCO2","EXTL3","FAM20C","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FBN1","FGF9","FGFR1","FGFR2","FGFR3","FGFRL1","FIG4","FLI1","FLNA","FLNB","FLT4","FN1","FOCAD","FOXC1","FZD2","GATA4","GATA5","GATA6","GDF1","GJA5","GNPTAB","HECTD4","HERC1","HLA-DPA1","HLA-DPB1","HNRNPK","HSPG2","HYMAI","IFT81","IGF2","IL11RA","INPPL1","INSR","IPO8","IRF4","ITCH","JAG1","KAT6A","KCNJ6","KCNQ1","KCNQ1OT1","KDR","KRAS","LEMD2","LETM1","LMNA","LRP2","LRP4","LTBP1","LZTR1","MAD2L2","MAF","MAFB","MAN2B1","MITF","MMP2","MRAS","MTHFR","MTX2","MUSK","MYD88","MYOD1","NAA10","NBAS","NDE1","NEDD4L","NELFA","NF1","NF2","NFIX","NIPBL","NKX2-5","NKX2-6","NLRP3","NOTCH3","NRAS","NSD2","NXN","OSTM1","P3H1","P4HB","PALB2","PARS2","PCLO","PDGFB","PDGFRB","PEPD","PHGDH","PIGB","PIGG","PIK3CA","PKDCC","PLAGL1","PLCB3","PLK4","PLOD3","POLA1","POLD1","POLR3A","POLR3GL","POR","PPP2CA","PRTN3","PRUNE1","PSAT1","PSMB8","PTCH1","PTEN","PTH1R","PTPN11","PTPN22","RAC3","RAD51","RAD51C","RAF1","RASA2","RECQL4","RFWD3","RIT1","RNU12","RNU4ATAC","ROR2","RRAS","RRAS2","RSPRY1","RTTN","SCN4A","SEC24D","SERPINH1","SETBP1","SH3BP2","SH3PXD2B","SHH","SHPK","SIN3A","SIX3","SKI","SKIC3","SLC25A24","SLC29A3","SLC39A13","SLC39A14","SLX4","SMAD3","SMARCB1","SMARCE1","SMO","SMS","SNRPN","SOS1","SOS2","SOST","SOX9","SPECC1L","SPRED2","SPTBN1","STAG2","SUFU","TAF1","TBC1D24","TBX1","TCF12","TCTN3","TERT","TGDS","TGFB1","TGFB3","TGFBR1","TGFBR2","THRB","TMEM53","TNFRSF11A","TRAF7","TSHR","TWIST1","UBE2T","VAC14","VANGL2","WASF1","WDR4","WNT5A","XRCC2","XYLT1","ZFPM2","ZIC1","ZMPSTE24","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ALACRIMA":{"collection":"C5:HPO","systematicName":"M34774","pmid":"","exactSource":"HP:0000522","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000522","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ALACRIMA","geneSymbols":["AAAS","CLDN10","DST","ELP1","FGF10","FGFR2","FGFR3","GMPPA","MADD","NGLY1","PAX1","PIGQ","SETBP1","SLC12A2","SOX10","TRAPPC11"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SUBCAPSULAR_CATARACT":{"collection":"C5:HPO","systematicName":"M34775","pmid":"","exactSource":"HP:0000523","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000523","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUBCAPSULAR_CATARACT","geneSymbols":["ABHD12","ABHD5","ADAMTS18","ALMS1","ARL2BP","ARL3","CFAP410","CHMP4B","CNBP","CYP1B1","EYS","FOXC1","FOXE3","FZD4","GJA8","IDH3B","IMPDH1","IMPG2","LCA5","LRAT","LRP5","NF2","NR2E3","OAT","OFD1","OPA3","PAX6","PDE6A","PITX2","POLR3GL","PRPF6","PRPF8","RBP3","REEP6","RPE65","SCAPER","SPATA7","SPRTN","TONSL","TULP1","UNC45B","WT1","XYLT2","ZNF408"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_IRIS_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M34776","pmid":"","exactSource":"HP:0000525","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000525","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_IRIS_MORPHOLOGY","geneSymbols":["AAAS","ABCB6","ACTA2","ACTB","ACTG1","ADAMTS17","ADAMTSL1","ADAMTSL4","ADGRV1","ADNP","AHI1","AKT1","ALG2","ALG3","ALX3","ANK1","AP3B1","AP3D1","ARL13B","ARL3","ARL6IP6","ARMC9","ARSG","ASPH","ATOH7","ATP10A","ATP6V1A","B3GALNT2","B3GLCT","B4GAT1","B9D1","B9D2","BAP1","BAZ1B","BCL7B","BCOR","BDNF","BEST1","BLOC1S3","BLOC1S5","BLOC1S6","BMP4","BRCA1","BRCA2","BRIP1","BTRC","BUD23","C12orf57","C1QTNF5","CASZ1","CBY1","CC2D2A","CCDC22","CDH23","CDON","CENPF","CEP104","CEP120","CEP290","CEP41","CEP78","CHD7","CHN1","CHRDL1","CIB2","CLIP2","CLRN1","COL18A1","COL25A1","COL3A1","COL4A1","COL8A2","COQ2","COX7B","CPAMD8","CPLANE1","CPLX1","CRPPA","CRYAA","CRYBA4","CRYBB1","CRYBB2","CRYGC","CRYGD","CSPP1","CTBP1","CYP1B1","CYSLTR2","DACT1","DAG1","DCT","DDX6","DHCR7","DIS3L2","DISP1","DLL1","DLST","DLX5","DLX6","DNAJC30","DPYSL5","DTNBP1","DYRK1A","EDC3","EDN3","EDNRB","EFEMP1","EIF4H","ELN","ELP1","ELP4","EPG5","EPS15L1","ERCC4","ERCC6","ERF","ESPN","FAM111A","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FBN1","FBXW4","FGF3","FGF8","FGFR1","FGFR2","FGFRL1","FH","FKBP6","FKRP","FKTN","FLI1","FLNA","FOXC1","FOXE3","FOXH1","FZD4","GABRD","GAS1","GATA1","GDF3","GFAP","GJA1","GJA8","GLI2","GMPPA","GMPPB","GNA11","GNAQ","GPC3","GPR143","GRHL2","GTF2I","GTF2IRD1","GTF2IRD2","GZF1","H19","HARS1","HCCS","HERC2","HEY2","HHAT","HMGB3","HMX1","HPS1","HPS4","HPS5","HPS6","HRAS","HS2ST1","HSPG2","HYLS1","IFT74","IGBP1","IGF1R","IMPG1","IMPG2","INPP5E","ITPR1","KANSL1","KATNIP","KCNAB2","KCTD1","KIAA0586","KIAA0753","KIF1B","KIF21A","KIFBP","KIT","KITLG","KMT2D","KRAS","KRT25","KRT71","KRT74","LAMB2","LARGE1","LDHD","LETM1","LIMK1","LIPH","LMX1B","LOX","LOXL1","LPAR6","LRMDA","LRP2","LRP5","LTBP2","LUZP1","LYST","MAB21L2","MAD2L2","MAF","MAFB","MAGEL2","MAPK1","MAT2A","MAX","MBTPS2","MC1R","MDH2","MED12L","METTL27","MFAP5","MIR184","MIR204","MITF","MKRN3","MKS1","MLPH","MLXIPL","MMP14","MMP2","MMP23B","MPDZ","MPZ","MSH6","MT-TS2","MTSS2","MYH11","MYLK","MYO5A","MYO7A","MYOC","NAA10","NCF1","NDN","NDP","NDUFB11","NELFA","NF1","NF2","NOD2","NODAL","NOTCH2","NOTCH3","NPAP1","NPHP1","NRAS","NSD2","OCA2","OCRL","OFD1","OVOL2","PAH","PALB2","PAX3","PAX6","PCDH15","PCYT1A","PDE4D","PDE6D","PDPN","PDZD7","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PHOX2A","PHOX2B","PIBF1","PIGG","PIK3R1","PITX2","PMP22","PNPLA6","POGZ","POLR1B","POLR1C","POLR1D","POMGNT1","POMGNT2","POMK","POMT1","POMT2","PORCN","POU6F2","PRDM16","PRKAR1A","PRKCZ","PRKG1","PRPH2","PRR12","PTCH1","PTCH2","PTEN","PUF60","PWAR1","PWRN1","PXDN","RAB27A","RAD51","RAD51C","RB1","RBP4","RERE","REST","RET","RFC2","RFWD3","RHOA","RLIM","ROBO1","ROR1","RPGRIP1","RPGRIP1L","RSPO2","RXYLT1","SALL1","SALL2","SALL4","SDHA","SDHAF2","SDHB","SDHC","SDHD","SEM1","SEMA3E","SF3B1","SH3TC2","SHH","SIN3A","SIX3","SIX6","SKI","SLC24A5","SLC25A11","SLC45A2","SLX4","SMAD2","SMAD3","SMAD4","SMCHD1","SMO","SNAI2","SNORD115-1","SNORD116-1","SNRPN","SOS1","SOX10","SOX2","SPEN","SPRED1","SPTBN1","SRD5A3","STIM1","STX1A","SUFU","TBL2","TBR1","TBX2","TBX22","TCEAL1","TCOF1","TCTN1","TCTN2","TCTN3","TDGF1","TENM3","TFAP2A","TGFB2","TGFB3","TGFBR1","TGFBR2","TGIF1","THSD4","TINF2","TMEM107","TMEM127","TMEM138","TMEM216","TMEM218","TMEM231","TMEM237","TMEM270","TMEM67","TOGARAM1","TONSL","TP63","TRAPPC11","TRIM28","TRIM37","TRIM44","TRIP13","TRPM3","TUBA1A","TUBB2B","TUBB3","TXNDC15","TYR","TYRP1","UBE2T","UBE3A","UBE4B","USH1C","USH1G","USH2A","VHL","VPS13B","VPS35L","VPS37D","VSX1","VSX2","WASHC5","WDR45","WDR73","WHRN","WNT10B","WNT3","WT1","XRCC2","XYLT2","YAP1","ZEB1","ZEB2","ZIC2","ZNF423"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ANIRIDIA":{"collection":"C5:HPO","systematicName":"M34777","pmid":"","exactSource":"HP:0000526","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000526","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANIRIDIA","geneSymbols":["BRCA2","BTRC","CHN1","DIS3L2","DLST","DLX5","DLX6","ELP4","EPS15L1","FAM111A","FBXW4","FH","FOXC1","FOXE3","GPC3","H19","ITPR1","KIF1B","LDHD","MAFB","MAX","MDH2","NF1","PAX6","PITX2","PORCN","POU6F2","REST","RET","SALL4","SDHA","SDHAF2","SDHB","SDHC","SDHD","SEM1","SLC25A11","TMEM127","TP63","TRIM28","TRIM44","TRIP13","VHL","WNT10B","WT1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LONG_EYELASHES":{"collection":"C5:HPO","systematicName":"M34778","pmid":"","exactSource":"HP:0000527","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000527","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LONG_EYELASHES","geneSymbols":["ABCC9","AFF4","AP3B2","ARHGEF2","ARID1A","ARID1B","ASXL2","ASXL3","ATP6V1B2","BICRA","BMP1","BRCA1","BRD4","CAMKMT","CAMTA1","CCDC47","CDC42BPB","CHD1","CHMP1A","CLP1","CNOT2","COL25A1","COX5A","CREBBP","CSF1R","CTCF","CTDP1","DDB1","DENND5A","DOCK7","DPYD","DVL1","DVL3","EGFR","EP300","EXOC8","FBN1","FBXO11","FGF5","FRMD4A","FZD2","GJA5","GJA8","GNB2","H4C5","HDAC8","HECTD4","HID1","HPDL","HSPG2","KCNH1","KCNJ8","KCNK4","KCNK9","KCNMA1","KCNN3","KDM6A","KMT2A","KMT2D","LTBP1","LTBP3","MAB21L1","MAB21L2","MADD","MAF","MAN1B1","MBD5","MED27","MGAT2","MOGS","NAA10","NIPBL","NOTCH2","NRCAM","NXN","ORC1","OTUD6B","PACS1","PGM2L1","PNPLA6","PPM1B","PREPL","PRR12","PUF60","RAC3","RAD21","RHOBTB2","RNF2","ROR2","RPS23","RUSC2","SATB2","SEC31A","SHANK3","SHOC2","SLC25A24","SLC30A9","SLC35C1","SLC3A1","SLC6A9","SMARCA2","SMARCA4","SMARCB1","SMARCC2","SMARCE1","SMC1A","SMC3","SOX11","SPEN","SPOP","SRCAP","STAG1","TAF1","TAF6","TBX4","TENT5A","TIMM50","TMCO1","UFC1","VARS1","VPS13B","VPS33A","VPS51","WNT5A","ZFHX4","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ANOPHTHALMIA":{"collection":"C5:HPO","systematicName":"M34779","pmid":"","exactSource":"HP:0000528","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000528","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANOPHTHALMIA","geneSymbols":["ALDH1A3","B3GALNT2","B4GAT1","B9D1","B9D2","BCOR","BMP4","CC2D2A","CEP290","CHD7","COL4A1","COX7B","CRPPA","CSPP1","DAG1","DOCK7","ERCC1","ERCC4","ERCC6","ERCC8","FANCB","FKRP","FKTN","FRAS1","FREM1","FREM2","GLI2","GRIP1","HCCS","HYLS1","KIF11","KIF7","LARGE1","MAB21L2","MKS1","NAA10","NDUFB11","NUAK2","OTX2","POMGNT1","POMGNT2","POMK","POMT1","POMT2","PORCN","RARB","RAX","RBP4","RPGRIP1","RPGRIP1L","RXYLT1","SEMA3E","SF3B2","SHH","SIX6","SMCHD1","SMOC1","SOX2","STRA6","TCTN1","TCTN2","TCTN3","TFAP2A","TMEM107","TMEM216","TMEM231","TMEM237","TMEM67","TXNDC15","WNT7B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PROGRESSIVE_VISUAL_LOSS":{"collection":"C5:HPO","systematicName":"M34780","pmid":"","exactSource":"HP:0000529","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000529","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROGRESSIVE_VISUAL_LOSS","geneSymbols":["AGTPBP1","AIP","AKT1","APOE","ARL3","ATP1A3","ATXN7","BAP1","BRAF","C19orf12","CARS2","CDH23","CDHR1","CEP164","CEP290","CFAP418","CFH","CFHR1","CFHR3","CFI","CHM","CLN3","CLN5","CLN6","CLN8","COL17A1","COL18A1","CTNNB1","CYP4V2","DCN","DNAJC30","DNM1L","EPRS1","EXOSC3","EXOSC8","EXOSC9","FA2H","GUCA1A","GUCY2D","HMCN1","IFT140","INVS","IQCB1","KARS1","KIAA1549","LRP2","MEN1","MERTK","MFN2","MT-ATP6","MT-CO1","MT-CO3","MT-CYB","MT-ND1","MT-ND2","MT-ND4","MT-ND4L","MT-ND5","MT-ND6","MTTP","NDUFS2","NEU1","NF1","NF2","NPHP1","NPHP3","NPHP4","OAT","OPA1","PAK2","PCYT1A","PDGFB","PEX7","PHYH","PIK3CA","PNPLA6","PPT1","PRPH2","PRPS1","RAX2","RDH11","RDH5","RHO","RLBP1","RP1L1","RS1","SDCCAG8","SEMA4A","SH3BP2","SLC25A46","SMARCB1","SMARCE1","SMO","SON","SOST","SUFU","TERT","TGFBI","TNFRSF11A","TPP1","TRAF3IP1","TRAF7","TREX1","UCHL1","VRK1","WDR19","ZNF408"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CHORIORETINAL_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M34781","pmid":"","exactSource":"HP:0000532","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000532","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CHORIORETINAL_MORPHOLOGY","geneSymbols":["ABCB6","ACTB","ACVRL1","ADAMTS18","AKT1","B3GALNT2","B4GAT1","B9D1","B9D2","BCOR","BEST1","BMP4","C12orf57","C1QTNF5","CASK","CC2D2A","CCDC22","CEP290","CFH","CFI","CHD7","CHM","CHN1","CLCN2","CLDN19","COL18A1","COL4A1","COL8A2","COX7B","CRB1","CRPPA","CRX","CSPP1","CTNNB1","CYP4V2","DACT1","DAG1","DCT","DHX16","DPP6","DPYSL5","EFEMP1","EYS","FKRP","FKTN","FSCN2","FZD4","GDF3","GRHL2","GUCA1A","GUCY2D","GZF1","HADHA","HCCS","HHAT","HLA-A","HLA-DRB1","HMGB3","HMX1","IFNG","IKBKG","INPP5E","JAG1","KIF11","KRAS","LARGE1","LCA5","LRAT","LRP5","MAFB","MAGEL2","MICOS13","MKS1","MPDZ","MT-TE","MT-TK","MT-TL1","NAA10","NDE1","NDP","NDUFB11","NRL","OAT","OCRL","OVOL2","PAX2","PAX6","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PIGL","PNPLA6","POMGNT1","POMGNT2","POMK","POMT1","POMT2","PORCN","POU3F4","PRPH2","PTEN","RBP4","RERE","RNU7-1","ROM1","RP2","RPE65","RPGRIP1","RPGRIP1L","RXYLT1","SAG","SALL1","SALL4","SEMA3E","SHH","SIM1","SIX3","SIX6","SLC25A15","SPATA7","SPTBN1","TBX22","TCTN1","TCTN2","TCTN3","TEAD1","TIMP3","TMEM107","TMEM138","TMEM216","TMEM231","TMEM237","TMEM67","TSC1","TSC2","TSPAN12","TUBGCP4","TUBGCP6","TXNDC15","UBE3B","VCAN","VPS13B","VPS33A","VPS35L","VSX1","WAC","WASHC5","WT1","YAP1","ZEB1","ZEB2","ZNF408","ZNF423","ZNF668"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CHORIORETINAL_ATROPHY":{"collection":"C5:HPO","systematicName":"M34782","pmid":"","exactSource":"HP:0000533","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000533","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHORIORETINAL_ATROPHY","geneSymbols":["ACVRL1","C1QTNF5","CFH","CFI","CHM","CLCN2","COL18A1","CRB1","CRX","CTNNB1","CYP4V2","EFEMP1","EYS","FSCN2","FZD4","GUCA1A","GUCY2D","HADHA","HMX1","JAG1","KRAS","LCA5","LRAT","LRP5","NDE1","NDP","NRL","OAT","PAX2","PNPLA6","PRPH2","RNU7-1","ROM1","RPE65","SAG","SLC25A15","SPATA7","TEAD1","TIMP3","TSPAN12","VCAN","ZNF408"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_EYEBROW_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M34783","pmid":"","exactSource":"HP:0000534","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000534","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_EYEBROW_MORPHOLOGY","geneSymbols":["AARS1","AASS","ABCA12","ABCA5","ABCC9","ABL1","ACER3","ACTB","ACTG1","ADA","ADAM17","ADAMTS3","ADAT3","AEBP1","AFF3","AFF4","AHI1","AHSG","AIFM1","AIP","ALOX12B","ALOXE3","ALX1","ALX4","AMMECR1","ANAPC1","ANKRD11","ANTXR1","APCDD1","APTX","ARID1A","ARID1B","ARID2","ARL13B","ARL3","ARL6","ARMC9","ARX","ASH1L","ASPM","ASPRV1","ASXL1","ASXL2","ASXL3","ATAD3A","ATP1A2","ATP1A3","ATP6V1B2","ATR","AUTS2","AXIN2","B3GAT3","B4GALT7","B9D1","B9D2","BANF1","BBIP1","BBS1","BBS10","BBS12","BBS2","BBS4","BBS5","BBS7","BBS9","BCAS3","BCL11B","BCOR","BCR","BICRA","BMP2","BPTF","BRAF","BRD4","BRF1","C12orf57","CACNA1A","CAMK2G","CASZ1","CBL","CBY1","CC2D2A","CCDC47","CCDC8","CCNK","CDC42","CDC42BPB","CDC45","CDH11","CDH2","CDH3","CDK10","CDK13","CDK19","CDKL5","CDON","CDSN","CEP104","CEP120","CEP19","CEP290","CEP41","CERT1","CFAP418","CHD1","CHD5","CHD7","CHD8","CHMP1A","CHRNA7","CHST3","CHSY1","CLCN3","CLCN6","CLDN1","CLP1","CNOT2","COG6","COL11A1","COL18A1","COL1A2","COL3A1","COLEC10","COLEC11","COX5A","COX7B","CPLANE1","CPLX1","CREBBP","CRIPT","CRKL","CSNK2A1","CSPP1","CTBP1","CTC1","CTCF","CTU2","CUL4B","CUL7","CWC27","CWF19L1","CYFIP2","CYP4F22","DCAF17","DCLRE1C","DDB1","DDX3X","DDX6","DEAF1","DENND5A","DHX30","DKC1","DLX4","DNAJC21","DNMT3A","DOCK7","DOLK","DPF2","DPH1","DPH2","DPH5","DSC3","DSG4","DSP","EBF3","EBP","ECEL1","EDA","EDA2R","EDAR","EDARADD","EDN3","EDNRB","EGFR","EHMT1","EIF5A","ELN","EMC10","EP300","EPS8L3","ERLIN2","ERMARD","ESCO2","EXT1","FAM111B","FAM149B1","FAM20C","FAR1","FAS","FBN1","FBXL4","FBXO28","FBXO31","FGF3","FGFR1","FGFRL1","FHL1","FIG4","FLI1","FLII","FOXG1","FOXL2","FOXP2","FRA10AC1","FRAS1","FREM1","FRMD4A","FUCA1","GABRA3","GABRD","GAD1","GJA1","GJA5","GJA8","GJB2","GJB6","GNB2","GNE","GNPTAB","GNS","GPR101","GPRASP2","GTPBP2","GUSB","H3-3A","H4C11","H4C5","H4C9","HBA1","HBA2","HDAC4","HDAC8","HEATR3","HECTD4","HECW2","HEPHL1","HERC1","HGSNAT","HID1","HIVEP2","HMGA2","HNRNPH1","HNRNPK","HNRNPU","HR","HRURF","HSPA9","HSPG2","HYLS1","IARS2","IDUA","IFT172","IFT27","IFT74","IGF1R","IL1RAPL1","IL2RG","IL7R","INPP5E","INTS1","IQSEC2","IRX5","ITGA3","ITGB6","JARID2","JUP","KANK2","KAT5","KAT6A","KATNB1","KATNIP","KCNAB2","KCNH1","KCNJ8","KCNK4","KCNK9","KCNMA1","KCNN3","KDF1","KDM1A","KDM4B","KDM5C","KDM6A","KIAA0586","KIAA0753","KIF26A","KIF7","KIFBP","KIT","KLF13","KMT2A","KMT2C","KMT2D","KMT5B","KNL1","KRAS","KREMEN1","KRT17","KRT25","KRT71","KRT74","KRT81","KRT83","KRT85","KRT86","LARP7","LAS1L","LEMD3","LETM1","LIG4","LIPH","LIPN","LMBRD2","LMNA","LMX1B","LPAR6","LRP1","LRPPRC","LSS","LTBP1","LTBP3","LTV1","LUZP1","LZTFL1","LZTR1","MAB21L1","MADD","MAF","MAGEL2","MAN1B1","MAN2B1","MAN2C1","MAP1B","MAP2K1","MAP2K2","MAP3K7","MAPK1","MAPK8IP3","MAPKAPK5","MAPRE2","MARS1","MASP1","MBD5","MBTPS2","MC1R","MED12","MED12L","MED13","MED13L","MED25","MED27","MEF2C","MEGF8","MEIS2","MESD","MGAT2","MITF","MKKS","MKS1","MLXIPL","MMP23B","MN1","MTHFS","MTX2","MYO5A","NAA10","NAGLU","NANS","NBAS","NCAPG2","NDST1","NECTIN1","NELFA","NEPRO","NF1","NFIB","NFIX","NHP2","NIPAL4","NIPBL","NMNAT1","NOP10","NOTCH2","NPHP1","NPM1","NRAS","NRCAM","NSD1","NSD2","NSUN2","NUDT2","NUP188","OBSL1","OCA2","ODC1","OFD1","OGT","OTUD6B","OTX2","PACS1","PACS2","PARN","PAX3","PCDHGC4","PCNT","PDCD6IP","PDE6D","PDPN","PEX1","PEX6","PGAP1","PGAP2","PGAP3","PHF6","PHF8","PHIP","PI4KA","PIBF1","PIGG","PIGK","PIGL","PIGN","PIGO","PIGS","PIGV","PIGW","PIGY","PKP1","PLXNA1","PNPLA6","POLA1","POLR3A","PPP1CB","PPP1R15B","PPP1R21","PPP2R3C","PQBP1","PRDM16","PRKCZ","PRKD1","PRKG2","PRR12","PRRX1","PSMC1","PSMC3","PSMD12","PTCH1","PTPN22","PTPRF","PUF60","PURA","PUS7","PYCR2","RAC1","RAD21","RAF1","RAG1","RAG2","RAI1","RALA","RALGAPA1","RBL2","RBM10","RECQL4","RERE","RET","RHOBTB2","RIN2","RIPK4","RMRP","RNF113A","RNF125","RNF2","RNU12","RNU4ATAC","ROBO1","RPGRIP1L","RPL21","RPS23","RPS28","RPS6KA3","RTEL1","RUSC2","SATB1","SCAPER","SCARF2","SCLT1","SCN4A","SDCCAG8","SDR9C7","SEMA3E","SETBP1","SETD1B","SETD2","SETD5","SF3B4","SGSH","SHANK3","SHMT2","SHOC2","SIAH1","SIM1","SIN3A","SKI","SLC1A3","SLC1A4","SLC25A24","SLC29A3","SLC35A2","SLC35C1","SLC39A4","SLC45A1","SLC6A17","SLC9A6","SMAD4","SMARCA2","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SMC1A","SMC3","SMCHD1","SMOC1","SMPD4","SMS","SNAI2","SNRPE","SON","SOS1","SOS2","SOX10","SOX11","SOX18","SOX4","SOX6","SPATA5","SPECC1L","SPEN","SPINK5","SPOP","SPRED2","SPTBN1","ST14","STAG1","STAG2","STRADA","STXBP1","SUFU","SULT2B1","SUMF1","SUPT16H","SYT1","SZT2","TAF1","TAF6","TALDO1","TASP1","TBCD","TBCK","TBL1XR1","TBX3","TBX4","TCF4","TCTN1","TCTN2","TCTN3","TERC","TERT","TFAP2B","TFE3","TGDS","TGM1","THUMPD1","TINF2","TMCO1","TMEM138","TMEM147","TMEM216","TMEM218","TMEM231","TMEM237","TMEM67","TMEM94","TOE1","TOGARAM1","TOPORS","TP63","TRAPPC10","TRAPPC9","TRIM32","TRIM8","TRIO","TRMT1","TRMT10A","TRPS1","TRRAP","TTC5","TTC7A","TTC8","TTI2","TUBGCP2","TWIST2","TYMS","TYRP1","UBE2A","UBE3B","UBE4B","UBR7","UFC1","UGDH","UGP2","UQCC2","UROS","USB1","VAC14","VPS13B","VPS33A","VPS35L","WAC","WARS1","WASHC4","WDPCP","WDR26","WDR35","WLS","WNT10A","WNT10B","WNT4","WRAP53","XYLT1","XYLT2","YY1","ZBTB18","ZBTB20","ZEB2","ZIC2","ZMPSTE24","ZMYND11","ZNF292","ZNF407","ZNF423","ZNF462","ZNF699","ZNF711","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_EPICANTHUS_INVERSUS":{"collection":"C5:HPO","systematicName":"M34784","pmid":"","exactSource":"HP:0000537","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000537","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EPICANTHUS_INVERSUS","geneSymbols":["CDC42BPB","COL25A1","COLEC10","COLEC11","CSNK2A1","DDB1","EBF3","FOXL2","HUWE1","KAT6B","MASP1","MKS1","PEX6","PPP1R12A","SIX2","ZFHX4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_REFRACTION":{"collection":"C5:HPO","systematicName":"M34785","pmid":"","exactSource":"HP:0000539","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000539","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_REFRACTION","geneSymbols":["AARS1","ABCC6","ACOX1","ACSL4","ADAMTS10","ADAMTS17","ADAMTS18","ADAMTS2","ADAMTSL1","ADAMTSL4","ADGRL1","ADGRV1","ADNP","AEBP1","AFF4","AGBL5","AGK","AHDC1","AIFM1","AKT1","ALDH18A1","ALDH1A3","ALDH3A2","AMMECR1","ANKRD11","ANTXR1","AP1B1","AP1G1","AP3D1","APC2","ARCN1","ARHGEF2","ARID1A","ARID1B","ARID2","ARL6","ARPC4","ARR3","ARSG","ARV1","ASH1L","ASPH","ASXL1","ASXL3","ATAD3A","ATF6","ATP6AP1","ATP6V0A2","ATP6V1A","ATP6V1B2","ATP6V1E1","ATRX","B3GALNT2","B3GALT6","B3GAT3","B3GLCT","B4GALT1","B4GALT7","BAP1","BAZ1B","BBS1","BBS9","BCL11B","BCL7B","BEST1","BFSP2","BICRA","BLOC1S3","BLTP1","BMP4","BPTF","BRAF","BRCA1","BRCA2","BRD4","BRIP1","BUD23","C12orf57","C1QBP","CABP4","CACNA1F","CACNA1G","CACNA2D4","CAMK2B","CAMK2G","CAMSAP1","CAMTA1","CANT1","CARS1","CASK","CASZ1","CBS","CC2D2A","CCDC28B","CCDC47","CCNQ","CDC45","CDH23","CDK8","CENPT","CEP78","CFAP418","CHAMP1","CHD3","CHD4","CHM","CHMP1A","CHRDL1","CHST14","CHST3","CHST6","CIB2","CLCN3","CLDN11","CLDN16","CLDN19","CLIP2","CLP1","CLRN1","CNGA3","CNGB3","CNNM4","CNOT3","COL11A1","COL11A2","COL12A1","COL17A1","COL18A1","COL1A2","COL25A1","COL2A1","COL3A1","COL4A1","COL4A3","COL4A4","COL4A5","COL4A6","COL5A1","COL8A2","COL9A1","COL9A2","COL9A3","COX7B","CPSF1","CRB1","CREBBP","CRIPT","CRPPA","CRYAA","CRYAB","CRYBA2","CRYBA4","CRYBB1","CRYBB2","CRYGC","CRYGD","CSGALNACT1","CSPP1","CSTA","CTCF","CTNNB1","CTSK","CYP1B1","CYP4V2","CYSLTR2","DAG1","DDX6","DEAF1","DNAJC21","DNAJC30","DOHH","DPAGT1","DPF2","DPH5","DPYD","DSE","DYRK1A","EBF3","EDEM3","EED","EFEMP1","EFL1","EHMT1","EIF2S3","EIF4H","ELN","ELOVL4","ELP1","EMC1","ENPP1","EP300","EPHA2","EPRS1","ERBB3","ERCC2","ERCC3","ERCC4","ERCC6","ERCC8","ERMARD","ESPN","EXOSC2","EXOSC5","FAM111A","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FBN1","FBN2","FBXO11","FBXW11","FBXW7","FGD1","FGF3","FGFR2","FGFR3","FIBP","FKBP14","FKBP6","FKRP","FKTN","FLCN","FLII","FLNA","FN1","FOXL2","FOXP1","GABRD","GALNT2","GATAD2B","GJA1","GJA5","GJA8","GJC2","GLE1","GLRA2","GLRB","GMPPB","GNA11","GNAQ","GNAT1","GNAT2","GNB2","GNB3","GNPTAB","GNPTG","GPAA1","GPR143","GPR179","GRHL2","GRIA1","GRK1","GRM6","GTF2E2","GTF2H5","GTF2I","GTF2IRD1","GTF2IRD2","GTPBP2","GZF1","H1-4","H4C3","H4C5","HACE1","HADHA","HARS1","HCCS","HDAC4","HDAC8","HERC1","HERC2","HIVEP2","HK1","HNRNPK","HNRNPR","HS6ST2","HSPG2","HTT","HUWE1","IARS2","IFIH1","IFT122","IFT172","IFT27","IFT43","IFT52","IGF1","INTS1","IPO8","IQSEC2","IRX5","JAG1","KANSL1","KAT5","KAT6A","KAT8","KCNAB2","KCNE5","KCNH1","KCNV2","KDM5B","KDM5C","KERA","KIAA0586","KIAA0753","KIDINS220","KIF11","KIF21A","KIFBP","KLLN","KMT2B","KMT2C","KRAS","KRT14","KRT5","LAMA1","LAMB2","LARGE1","LAS1L","LCA5","LIG4","LIMK1","LMBRD2","LMX1B","LOX","LOXL3","LRAT","LRIT3","LRMDA","LRP2","LRPAP1","LRRC32","LTBP2","LUZP1","MAD2L2","MADD","MAF","MAG","MAGEL2","MAN1B1","MAN2B1","MAP2K1","MAP2K2","MAP3K7","MAPK8IP3","MARK3","MBD5","MBTPS2","MC1R","MED12","MED12L","MED13L","MED25","METTL27","MFRP","MFSD8","MID1","MIR184","MKRN3","MLXIPL","MMP23B","MPLKIP","MSX2","MT-TS2","MYO1H","MYO5A","MYO7A","MYOC","NADK2","NALCN","NBAS","NCF1","NDP","NDRG1","NDUFB11","NEDD4L","NEK1","NEUROD2","NFIX","NIPBL","NMNAT1","NOG","NONO","NOTCH2","NPAP1","NPR3","NR2F1","NRAS","NSD1","NSUN2","NT5C2","NYX","OAT","OCA2","OFD1","OGT","OPN1LW","OPN1MW","OPTN","OTUD5","OTX2","OVOL2","P3H2","P4HA2","P4HTM","PACS1","PACS2","PAK2","PALB2","PAX2","PAX6","PBX1","PCDH15","PCNT","PCYT1A","PDE4D","PDE6B","PDE6C","PDE6H","PDGFRB","PDPN","PDZD7","PDZD8","PGAP2","PGAP3","PGM2L1","PHIP","PHOX2A","PIEZO2","PIGG","PIGL","PIGO","PIGQ","PIGT","PIGU","PIGV","PIGW","PIGY","PIK3CA","PIK3R1","PITX2","PLOD1","PLOD3","PMM2","PNPLA6","POC1B","POGZ","POLR1C","POLR3A","POLR3B","POLR3GL","POMGNT1","POMK","POMT1","POMT2","PPM1D","PPP1R12A","PPP1R21","PPP2R5D","PQBP1","PRDM16","PRDM5","PRIMPOL","PRKAR1B","PRKCZ","PRMT7","PRPS1","PRR12","PRSS56","PSMD12","PTEN","PTPN11","PUF60","PURA","PWAR1","PWRN1","RAB11B","RAB28","RAD21","RAD50","RAD51","RAD51C","RAI1","RAX","RBM10","RECQL4","RERE","RFC2","RFWD3","RHO","RHOA","RIN2","RLBP1","RMRP","RNF113A","RNF2","RNU4ATAC","ROBO1","ROBO3","RORA","RP1","RP2","RPE65","RPGR","RPGRIP1","RPL10","RRAS2","RS1","SAG","SATB1","SATB2","SCO2","SCUBE3","SDHB","SDHC","SDHD","SEC23B","SETBP1","SETD2","SETD5","SF3B1","SHANK3","SHOC2","SIN3A","SIX6","SKI","SLC12A6","SLC24A1","SLC25A24","SLC25A4","SLC2A10","SLC35A2","SLC38A8","SLC39A5","SLC39A8","SLC4A11","SLC6A6","SLC6A8","SLITRK6","SLX4","SMAD4","SMARCA4","SMARCAL1","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SMC1A","SMC3","SMG8","SMS","SNORD115-1","SNORD116-1","SNRPN","SOBP","SON","SOX10","SOX11","SOX2","SOX4","SOX5","SOX9","SPATA7","SPEN","SRCAP","STX1A","STXBP1","SYNE1","SYT1","TAF1","TAOK1","TARS1","TASP1","TBC1D23","TBC1D24","TBC1D2B","TBC1D7","TBCE","TBL2","TCEAL1","TCF20","TCF4","TCTN2","TDO2","TEAD1","TFAP2A","TFAP2B","TFE3","TGFBI","TGM5","THG1L","THOC6","TIMM8A","TKFC","TLK2","TMEM270","TMEM63A","TMEM94","TMEM98","TNPO2","TRAPPC11","TRIM37","TRIT1","TRNT1","TRPM1","TRPV4","TSPAN7","TTC8","TTLL5","TTR","TUB","TUBA1A","TUBB2B","TUBB3","TUBB4B","TULP1","TWIST2","TYR","UBE2T","UBE3A","UBE3B","UBE4B","UCHL1","UFC1","UNC119","UQCC3","USF3","USH1C","USH1G","USH2A","USP7","USP9X","VARS1","VCAN","VPS13B","VPS37D","VPS50","VSX1","WAC","WDR19","WDR26","WDR35","WDR45","WHRN","XRCC2","XYLT1","XYLT2","YME1L1","YY1","ZBTB7A","ZC4H2","ZEB1","ZEB2","ZFHX4","ZMIZ1","ZMYM2","ZNF148","ZNF408","ZNF469","ZNF644","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPERMETROPIA":{"collection":"C5:HPO","systematicName":"M34786","pmid":"","exactSource":"HP:0000540","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000540","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERMETROPIA","geneSymbols":["ADGRL1","ADNP","ALDH1A3","APC2","ARSG","ARV1","ASH1L","ASXL3","ATF6","ATP6AP1","ATP6V1A","B3GAT3","B4GALT7","BAZ1B","BCL11B","BCL7B","BEST1","BICRA","BLOC1S3","BLTP1","BUD23","CABP4","CACNA1F","CACNA1G","CACNA2D4","CAMSAP1","CASZ1","CCDC47","CDH23","CENPT","CEP78","CHAMP1","CHD3","CHMP1A","CHST3","CIB2","CLCN3","CLDN11","CLDN16","CLIP2","CLP1","CLRN1","CNGA3","CNGB3","CNNM4","CNOT3","COL11A2","COL25A1","COL3A1","COL4A1","CRB1","CREBBP","CSGALNACT1","CSTA","CTCF","CTNNB1","DDX6","DNAJC21","DNAJC30","DPF2","DYRK1A","EHMT1","EIF4H","ELN","EMC1","EP300","EPRS1","ERCC6","ERCC8","ERMARD","ESPN","FAM111A","FBXO11","FGD1","FGF3","FKBP6","FKTN","FLCN","FOXL2","GABRD","GATAD2B","GJA1","GJA5","GJA8","GNAT1","GNAT2","GNB2","GNB3","GPR179","GRK1","GRM6","GTF2I","GTF2IRD1","GTF2IRD2","H4C5","HARS1","HDAC8","HERC2","HIVEP2","HNRNPK","HNRNPR","HSPG2","HUWE1","IARS2","IFT122","IFT172","IFT43","IFT52","IQSEC2","KANSL1","KAT5","KAT8","KCNAB2","KDM5C","KERA","KIAA0753","KIDINS220","KIF11","KIFBP","KMT2B","KMT2C","KRT14","KRT5","LAMA1","LAS1L","LCA5","LIMK1","LMBRD2","LRIT3","LRMDA","LTBP2","LUZP1","MADD","MAG","MAGEL2","MAN1B1","MAN2B1","MARK3","MBD5","MED12","MED12L","MED13L","MED25","METTL27","MFRP","MKRN3","MLXIPL","MMP23B","MSX2","MT-TS2","MYO7A","NADK2","NBAS","NCF1","NEK1","NFIX","NMNAT1","NOG","NPAP1","NR2F1","NSD1","NYX","OGT","OTUD5","OTX2","P4HTM","PACS2","PAX2","PBX1","PCDH15","PCNT","PDE4D","PDE6B","PDE6C","PDE6H","PDGFRB","PDPN","PGAP2","PGAP3","PGM2L1","PHIP","PIEZO2","PIGG","PIGL","PIGO","PIGT","PIGU","PIGV","PIGW","PIGY","PIK3R1","PLOD1","POGZ","POLR3A","POMT2","PPM1D","PPP1R12A","PQBP1","PRDM16","PRKCZ","PRPS1","PRR12","PRSS56","PUF60","PWAR1","PWRN1","RAB11B","RAD50","RAI1","RAX","RERE","RFC2","RHO","RMRP","ROBO1","RORA","RPGR","RPGRIP1","RPL10","RRAS2","RS1","SAG","SATB1","SATB2","SETBP1","SETD2","SETD5","SHANK3","SHOC2","SIN3A","SIX6","SKI","SLC24A1","SLC25A24","SLC39A8","SLC6A6","SLC6A8","SMAD4","SNORD115-1","SNORD116-1","SNRPN","SOBP","SON","SOX2","SPEN","SRCAP","STX1A","SYNE1","SYT1","TAOK1","TASP1","TBC1D23","TBL2","TCEAL1","TCTN2","TGM5","TMEM270","TMEM98","TNPO2","TRPM1","TRPV4","TUBB4B","TULP1","UBE4B","UFC1","UQCC3","USH1C","USH1G","USP9X","VPS37D","WAC","WDR19","WDR26","WDR35","WDR45","YME1L1","YY1","ZC4H2","ZFHX4","ZMYM2","ZNF148"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RETINAL_DETACHMENT":{"collection":"C5:HPO","systematicName":"M34787","pmid":"","exactSource":"HP:0000541","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000541","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETINAL_DETACHMENT","geneSymbols":["ADAMTSL1","ADAMTSL4","AKT1","ALDH1A3","ALG12","ARL6IP6","ATOH7","B3GALNT2","B4GAT1","BAP1","BCOR","BEST1","CACNA1F","CAPN5","CBS","CCND1","CFH","CFI","CHRDL1","CHST14","COL11A1","COL11A2","COL18A1","COL2A1","COL4A1","COL9A1","COL9A2","COL9A3","CRPPA","CTNNB1","CYP1B1","CYSLTR2","DAG1","DEAF1","DSE","DYRK1A","EFEMP1","FAS","FBN1","FKRP","FKTN","FLII","FRG1","FZD4","GMPPB","GNA11","GNAQ","GZF1","HLA-A","HMX1","IGFBP7","IKBKG","IMPG1","IMPG2","IPO8","IQSEC2","KCNJ13","KIF11","LAMB2","LARGE1","LCA5","LOXL3","LRAT","LRP2","LRP5","LTBP2","MAF","MYOC","NDP","NHS","NRCAM","NSMCE2","P3H2","P4HA2","PAK2","PAX2","PAX6","PLOD1","POMGNT1","POMGNT2","POMK","POMT1","POMT2","PRDM5","PRPH2","PTEN","PTPN22","RAI1","RPE65","RS1","RXYLT1","SETD2","SF3B1","SIX6","SPATA7","TEK","TENM3","TRAPPC2","TRPM3","TSPAN12","TUB","TUBGCP6","VCAN","VHL","XRCC4","XYLT2","YAP1","ZNF408","ZNF469"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_IMPAIRED_OCULAR_ADDUCTION":{"collection":"C5:HPO","systematicName":"M47034","pmid":"","exactSource":"HP:0000542","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000542","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRED_OCULAR_ADDUCTION","geneSymbols":["COL25A1","KIF21A","MAFB","PHOX2A","SALL4","TUBA1A","TUBB2B","TUBB3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_OPTIC_DISC_PALLOR":{"collection":"C5:HPO","systematicName":"M34788","pmid":"","exactSource":"HP:0000543","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000543","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OPTIC_DISC_PALLOR","geneSymbols":["ABCA4","ACER3","ACO2","AFG3L2","AIFM1","AIPL1","ALMS1","AP3B2","AP4M1","ARHGEF18","ARHGEF2","ARL13B","ARL2BP","ATXN1","B3GALT6","BBS2","BEST1","BLOC1S3","C1QTNF5","CACNA1F","CASK","CERKL","CFAP418","CLCC1","CLCN7","CLDN11","CLN8","CNGA1","CNGA3","CNNM4","COL18A1","COL4A1","COX7B","CRB1","CYP1B1","CYP27A1","DARS1","DNM1L","DPAGT1","DYRK1A","EFEMP1","ELOVL1","ERCC6","ERCC8","ESPN","EXOC8","EYS","FAM161A","FGF12","FLRT1","FOXRED1","GFM2","GNAT1","GRID2","HARS1","HGSNAT","HK1","HLA-A","HNRNPH1","IDH3B","IFT172","IFT43","IMPDH1","IMPG2","INPP5E","ITM2B","JAM3","KCNC3","KCNJ13","KIAA1549","KIF5A","KLC2","KLHL7","LCA5","LRAT","LYRM7","MAG","MAK","MAN2B1","MAPKAPK5","MECR","MERTK","MFF","MFN2","MFRP","MFSD8","MKS1","MMP19","MSTO1","MT-ATP6","MT-ND1","MT-ND2","MT-ND3","MTFMT","MVK","MYOC","NDUFA1","NDUFA11","NDUFA13","NDUFA6","NDUFAF1","NDUFAF2","NDUFAF3","NDUFAF4","NDUFAF5","NDUFAF8","NDUFB10","NDUFB11","NDUFB3","NDUFB9","NDUFC2","NDUFS1","NDUFS2","NDUFS3","NDUFS4","NDUFS6","NDUFS7","NDUFS8","NDUFV1","NDUFV2","NEDD4L","NFIX","NGLY1","NMNAT1","NR2F1","NUBPL","NUS1","OPA1","OPA3","OSTM1","PANK2","PARS2","PCLO","PDE6A","PDE6G","PDXK","PEX1","PIGB","PISD","PLK4","POC1B","POMGNT1","PRCD","PROM1","PRORP","PRPF31","PRPF4","PRPF6","PRPS1","RAX2","RBP3","RDH12","RIMS2","RP1","RP1L1","RPE65","RRM2B","RTN4IP1","RTTN","SCAPER","SDHD","SMG8","SNRNP200","SPATA7","SPG7","STX3","TASP1","TIMMDC1","TMEM106B","TMEM126A","TMEM126B","TMEM67","TOR1A","TPI1","TRNT1","TUB","TUBB4B","TUBGCP6","TULP1","UBE3B","USP45","VPS41","VSX1","WFS1","ZNF408","ZNF513"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_EXTERNAL_OPHTHALMOPLEGIA":{"collection":"C5:HPO","systematicName":"M34789","pmid":"","exactSource":"HP:0000544","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000544","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EXTERNAL_OPHTHALMOPLEGIA","geneSymbols":["ACADS","APTX","ATG7","ATXN3","BIN1","C1QBP","COL25A1","DGUOK","DNA2","DNM2","FA2H","FRG1","GIPC1","HPDL","KIF21A","LIG3","LRP12","LYRM7","MFF","MGME1","MT-ATP8","MT-CO1","MT-CO2","MT-CO3","MT-ND1","MT-ND4","MT-ND5","MT-ND6","MT-TE","MT-TF","MT-TH","MT-TK","MT-TL1","MT-TL2","MT-TN","MT-TQ","MT-TS1","MT-TS2","MT-TT","MT-TW","MTM1","MTMR14","MTRFR","MYF5","MYF6","NDUFAF2","NOTCH2NLC","NSUN3","NUTM2B-AS1","OPA1","PHOX2A","POLG","POLG2","POLRMT","RILPL1","RNASEH1","RRM2B","RYR1","SALL4","SCN4A","SDHA","SDHAF1","SDHB","SDHD","SLC19A3","SLC25A4","SLC52A3","STIM1","STUB1","TK2","TOP3A","TUBA1A","TUBB2B","TUBB3","TWNK","TYMP","VARS2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MYOPIA":{"collection":"C5:HPO","systematicName":"M34790","pmid":"","exactSource":"HP:0000545","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000545","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MYOPIA","geneSymbols":["AARS1","ABCC6","ACOX1","ACSL4","ADAMTS10","ADAMTS17","ADAMTS18","ADAMTS2","ADAMTSL1","ADAMTSL4","ADGRV1","AEBP1","AFF4","AGBL5","AGK","AHDC1","AIFM1","AKT1","ALDH18A1","ALDH3A2","AMMECR1","ANKRD11","ANTXR1","AP1B1","AP3D1","APC2","ARCN1","ARID1A","ARID1B","ARID2","ARL6","ARR3","ASPH","ASXL1","ATAD3A","ATF6","ATP6V0A2","ATP6V1A","ATP6V1B2","ATP6V1E1","ATRX","B3GALNT2","B3GALT6","B3GLCT","B4GALT1","BAP1","BAZ1B","BBS1","BCL11B","BCL7B","BFSP2","BICRA","BLOC1S3","BMP4","BPTF","BRAF","BRD4","BUD23","C12orf57","CABP4","CACNA1F","CACNA2D4","CAMK2G","CAMTA1","CANT1","CARS1","CASK","CBS","CCDC28B","CCNQ","CDC45","CDK8","CFAP418","CHM","CHMP1A","CHST14","CLDN16","CLDN19","CLIP2","CNGA3","CNGB3","COL11A1","COL11A2","COL12A1","COL18A1","COL1A2","COL25A1","COL2A1","COL4A1","COL4A3","COL4A4","COL4A5","COL4A6","COL5A1","COL9A1","COL9A2","COL9A3","COX7B","CPSF1","CRIPT","CRPPA","CRYAA","CRYAB","CRYBA2","CRYBA4","CRYBB1","CRYBB2","CRYGC","CRYGD","CSPP1","CTNNB1","CYP1B1","CYP4V2","DAG1","DEAF1","DNAJC21","DNAJC30","DOHH","DPF2","DPH5","DPYD","DSE","DYRK1A","EED","EFEMP1","EFL1","EIF2S3","EIF4H","ELN","ELOVL4","ELP1","EMC1","ENPP1","EPHA2","ERBB3","ERCC2","ERCC3","EXOSC2","EXOSC5","FANCI","FBN1","FBN2","FBXW11","FGFR2","FGFR3","FKBP14","FKBP6","FKRP","FKTN","FLII","FLNA","FN1","GJA1","GJA8","GJC2","GLE1","GLRA2","GLRB","GMPPB","GNAT1","GNAT2","GNB3","GNPTG","GPAA1","GPR143","GPR179","GRK1","GRM6","GTF2E2","GTF2H5","GTF2I","GTF2IRD1","GTF2IRD2","GTPBP2","GZF1","H4C3","H4C5","HACE1","HADHA","HCCS","HDAC8","HERC1","HERC2","HNRNPK","HS6ST2","HSPG2","HTT","HUWE1","IFIH1","IFT122","IFT27","IFT43","IFT52","IGF1","IPO8","IQSEC2","IRX5","JAG1","KAT5","KAT6A","KCNE5","KCNH1","KCNV2","KDM5B","KDM5C","KIAA0586","KIF11","KLLN","KRAS","LAMA1","LAMB2","LARGE1","LCA5","LIG4","LIMK1","LOX","LOXL3","LRAT","LRIT3","LRP2","LRPAP1","LRRC32","LTBP2","MADD","MAF","MAGEL2","MAN2B1","MAP2K1","MAP2K2","MBD5","MBTPS2","MC1R","MED12L","MED13L","METTL27","MFSD8","MKRN3","MLXIPL","MPLKIP","MSX2","MYO1H","MYO5A","MYO7A","MYOC","NALCN","NBAS","NCF1","NDP","NDRG1","NDUFB11","NEDD4L","NFIX","NIPBL","NMNAT1","NONO","NOTCH2","NPAP1","NPR3","NR2F1","NRAS","NSD1","NSUN2","NT5C2","NYX","OAT","OCA2","OFD1","OPN1LW","OPN1MW","OPTN","P3H2","P4HA2","P4HTM","PACS1","PACS2","PAK2","PAX2","PDE6B","PDE6C","PDE6H","PDZD7","PDZD8","PIGT","PIK3CA","PIK3R1","PLOD1","PLOD3","PMM2","PNPLA6","POC1B","POGZ","POLR1C","POLR3A","POLR3B","POMGNT1","POMK","POMT1","POMT2","PPP1R21","PPP2R5D","PRDM5","PRIMPOL","PRPS1","PRR12","PSMD12","PTEN","PTPN11","PUF60","PURA","PWAR1","PWRN1","RAB28","RAD21","RAI1","RBM10","RECQL4","RERE","RFC2","RHO","RHOA","RIN2","RMRP","RNF113A","RP1","RP2","RPE65","RPGR","RPL10","SAG","SCO2","SDHB","SDHC","SDHD","SEC23B","SETBP1","SETD2","SETD5","SHOC2","SKI","SLC12A6","SLC24A1","SLC25A4","SLC2A10","SLC39A5","SLITRK6","SMARCA4","SMARCAL1","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SMC1A","SMC3","SMS","SNORD115-1","SNORD116-1","SNRPN","SON","SOX10","SOX11","SOX4","SOX5","SOX9","SPATA7","SRCAP","STX1A","TAF1","TARS1","TBC1D24","TBC1D7","TBL2","TCF20","TCF4","TDO2","TEAD1","TFAP2A","TFAP2B","TFE3","TGFBI","THG1L","THOC6","TIMM8A","TKFC","TLK2","TMEM270","TMEM63A","TMEM94","TNPO2","TRAPPC11","TRIT1","TRNT1","TRPM1","TSPAN7","TTC8","TTLL5","TTR","TUB","TULP1","TWIST2","TYR","UBE3A","UBE3B","UCHL1","UNC119","USF3","USH2A","USP7","USP9X","VARS1","VCAN","VPS13B","VPS37D","VPS50","WAC","WDR19","WDR26","WDR35","WHRN","XYLT1","XYLT2","YME1L1","ZEB2","ZFHX4","ZNF408","ZNF469","ZNF644","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RETINAL_DEGENERATION":{"collection":"C5:HPO","systematicName":"M34791","pmid":"","exactSource":"HP:0000546","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000546","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETINAL_DEGENERATION","geneSymbols":["AARS1","ABCA4","ABCC6","ACTL6B","AIPL1","ALDH3A2","ALG6","ALMS1","ANO10","AP3B2","APOB","APOE","ARL2BP","ARL6","ARSG","ARV1","ASAH1","ASXL1","ATF6","ATP1A2","ATP1A3","ATP6V1A","ATXN7","BBS1","BBS2","BBS4","BBS9","BEST1","C1QTNF5","C9","CA2","CACNA1A","CACNA1B","CACNA2D1","CARS1","CCDC28B","CDH3","CDHR1","CDK19","CELF2","CEP164","CEP78","CFAP410","CFAP418","CFH","CFHR1","CFHR3","CFI","CLCC1","CLN3","CLN5","CLN6","CLTC","CNGA3","CNGB1","CNGB3","CNKSR2","CNNM4","COL18A1","COL2A1","CP","CRX","CST3","CTNNB1","CTSD","CWC27","CYFIP2","CYP4V2","DALRD3","DHDDS","DHX38","DLAT","DNM1","DRAM2","EEF1A2","EFEMP1","ELOVL4","EPG5","ERCC2","ERCC3","ERCC6","ERCC8","FBLN1","FBLN5","FBN2","FBXO28","FGF12","FGF13","FKRP","FKTN","FZR1","GABBR2","GABRA2","GABRA5","GABRB2","GABRG2","GBA1","GNAT2","GNB5","GNPTAB","GRIN2D","GRK1","GTF2E2","GTF2H5","GUCA1A","GUCA1B","GUCY2D","HCN1","HGSNAT","HK1","HLA-A","HMCN1","HSD17B10","HTRA1","IDH3A","IDUA","IFT140","IFT172","IFT43","IMPDH1","IMPG2","INPP5E","KCNA2","KCNB1","KCNJ13","KCNV2","KIAA1549","LAMA1","LARGE1","LCA5","LIG3","LMNA","LRAT","LZTFL1","MAB21L1","MAN2B1","MAPKAPK3","MCOLN1","MERTK","MFRP","MIR204","MMACHC","MPLKIP","MTTP","NECAP1","NEK8","NMNAT1","NR2E3","NRL","NTRK2","NUS1","OFD1","OPA1","P3H2","PACS2","PAK2","PANK2","PARS2","PAX2","PCYT1A","PDE6C","PDE6H","PEX7","PHYH","PISD","PITPNM3","PLK4","PNPLA6","POMGNT1","POMK","POMT1","POMT2","POU3F4","PPP3CA","PPT1","PRCD","PROM1","PRPF31","PRPF4","PRPF6","PRPF8","PRPH2","RAX2","RBP4","RDH11","RDH5","REEP6","RHO","RLBP1","RNF113A","RP1L1","RP9","RPE65","RPGR","RPGRIP1","RS1","SAG","SCAPER","SCN3A","SCN8A","SDCCAG8","SEMA4A","SH3BP2","SIX6","SLC13A5","SLC19A2","SLC1A2","SLC24A1","SLC38A3","SLC6A6","SLC7A14","SNRNP200","SPATA7","SPG11","STUB1","SUMF1","SYNGAP1","SYNJ1","SZT2","TARS1","TIMP3","TLCD3B","TMEM67","TNFRSF11B","TOPORS","TPP1","TRAF3IP1","TRAK1","TRNT1","TTC8","TUB","TUBB4B","TULP1","UBA5","UNC119","USP45","VCAN","WDR19","WRN","WWOX","XYLT1","XYLT2","YARS1","YWHAG","ZFYVE26","ZNF408","ZNF423","ZNF513"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CONE_CONE_ROD_DYSTROPHY":{"collection":"C5:HPO","systematicName":"M34792","pmid":"","exactSource":"HP:0000548","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000548","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONE_CONE_ROD_DYSTROPHY","geneSymbols":["ABCA4","ADAM9","AIPL1","ALMS1","ALPK1","ATXN7","CACNA1F","CACNA2D4","CFAP410","CFAP418","CNNM4","CRX","GUCA1A","GUCY2D","HMX1","IFT27","KCNV2","LZTFL1","NGLY1","PCYT1A","PDE6C","PDE6H","PIBF1","PITPNM3","POC1B","PROM1","RAB28","RAX2","RPGRIP1","SLC19A2","TTLL5","UNC119"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CONJUGATE_EYE_MOVEMENT":{"collection":"C5:HPO","systematicName":"M34793","pmid":"","exactSource":"HP:0000549","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000549","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CONJUGATE_EYE_MOVEMENT","geneSymbols":["AARS1","AASS","ABCB7","ABCC8","ABCC9","ABCD1","ABHD5","ACADSB","ACKR3","ACO2","ACOX1","ACOX2","ACSL4","ADA2","ADAMTS3","ADARB1","ADAT3","ADD3","ADGRG1","ADNP","ADPRS","ADSL","AEBP1","AFF3","AFF4","AGK","AGO1","AGO2","AGRN","AGTPBP1","AHCY","AHDC1","AHI1","AIMP1","AKT1","ALDH18A1","ALDH1A3","ALDH3A2","ALDH4A1","ALDH7A1","ALG1","ALG11","ALG12","ALG2","ALG3","ALG6","ALG9","ALS2","ALX3","ALX4","AMMECR1","AMPD2","ANAPC7","ANKRD11","ANKRD17","ANTXR1","AP1G1","AP1S2","AP3B1","AP3D1","AP4B1","AP4E1","AP4M1","AP4S1","APC","APC2","ARCN1","ARHGAP31","ARHGEF2","ARID1A","ARID1B","ARID2","ARL13B","ARL3","ARL6","ARMC9","ARNT2","ARPC4","ARVCF","ARX","ASCL1","ASH1L","ASNS","ASXL1","ASXL3","ATAD3A","ATG7","ATIC","ATM","ATOH7","ATP13A2","ATP1A2","ATP1A3","ATP2B3","ATP5F1A","ATP5F1D","ATP5F1E","ATP5MK","ATP6V0A2","ATP6V1A","ATP6V1B2","ATP6V1E1","ATP8A2","ATP9A","ATPAF1","ATPAF2","ATR","ATRX","ATXN1","AUTS2","B3GALNT2","B3GAT3","B9D1","B9D2","BAP1","BAZ1B","BBS1","BBS9","BCAP31","BCAS3","BCL11A","BCL7B","BCOR","BCORL1","BEST1","BICRA","BLOC1S3","BLOC1S5","BLTP1","BPTF","BRAF","BRCA1","BRCA2","BRD4","BRF1","BRIP1","BRPF1","BUD23","C9orf72","CA8","CABP4","CACNA1A","CACNA1B","CACNA1F","CACNA1G","CACNA2D2","CACNA2D4","CAMK2A","CAMK2B","CAMK2G","CAMTA1","CARS1","CASK","CASZ1","CBL","CBY1","CC2D2A","CCDC174","CCDC28B","CCDC88C","CCNQ","CD96","CDC42","CDC42BPB","CDC45","CDCA7","CDH11","CDH2","CDH3","CDK13","CDK8","CDKL5","CDON","CENPJ","CEP104","CEP120","CEP152","CEP290","CEP41","CEP83","CEP85L","CHAMP1","CHAT","CHCHD10","CHD3","CHD7","CHMP1A","CHN1","CHRNA7","CHRNE","CHRNG","CHST14","CHST3","CLCN3","CLCN4","CLCN6","CLDN11","CLDN16","CLDN19","CLIP2","CLP1","CLTCL1","CLTRN","CNOT3","COG1","COG5","COG8","COL11A1","COL11A2","COL12A1","COL13A1","COL18A1","COL1A2","COL25A1","COL2A1","COL4A1","COL4A2","COL6A1","COL6A2","COL6A3","COL8A2","COLEC11","COMT","COQ8A","CPLANE1","CPLX1","CPSF3","CRB1","CREBBP","CRIPT","CRPPA","CRYAA","CSPP1","CTBP1","CTCF","CTDP1","CTNNB1","CTSK","CWF19L1","CYB5A","CYB5R3","CYP1B1","DAB1","DACT1","DCC","DCN","DCTN1","DDB1","DDB2","DDHD2","DDOST","DDX3X","DDX59","DDX6","DEAF1","DGUOK","DHCR24","DHCR7","DHODH","DHX30","DHX37","DISP1","DKC1","DLAT","DLG3","DLG4","DLK1","DLL1","DLL4","DMXL2","DNAJC30","DNM1L","DNMBP","DNMT3A","DOCK6","DOHH","DOLK","DPAGT1","DPF2","DPM1","DPM2","DPP6","DPYD","DPYSL5","DSE","DVL1","DVL3","DYNC2LI1","DYRK1A","EBF3","EBP","EDEM3","EFNB1","EIF2AK2","EIF2AK3","EIF2S3","EIF3F","EIF4H","ELN","ELOVL4","EMC1","EOGT","EP300","ERCC1","ERCC2","ERCC3","ERCC4","ERCC5","ERCC6","ERCC8","ERF","ERLIN2","ERMARD","EVC","EVC2","EXOC8","EXOSC1","EXOSC2","EXOSC3","EXOSC5","EXOSC8","EXOSC9","EXT2","EZH2","FA2H","FAM149B1","FAM50A","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FARS2","FBLN5","FBN1","FBXL3","FBXO11","FBXO28","FBXW11","FBXW7","FCSK","FGD1","FGF10","FGF14","FGF3","FGF8","FGFR1","FGFR2","FGFR3","FGFRL1","FIBP","FIG4","FKBP6","FKRP","FKTN","FLI1","FLII","FLNA","FMR1","FN1","FOXC1","FOXE3","FOXH1","FOXL2","FOXP1","FOXP2","FOXRED1","FRMD4A","FRMD5","FRMPD4","FTL","FUS","FZD2","FZD4","GABRD","GALC","GALNT2","GAN","GAS1","GATA1","GATA4","GATAD2B","GBA1","GDF5","GFPT1","GGCX","GGT1","GJA1","GJA5","GJA8","GJB6","GJC2","GK","GLI1","GLI2","GLRB","GLRX5","GMNN","GMPPA","GMPPB","GNA14","GNAO1","GNAQ","GNAS","GNAT1","GNB1","GNB2","GNB3","GOLGA2","GP1BB","GPC4","GPR143","GPR179","GRHL2","GRIA1","GRIA4","GRID2","GRIK2","GRIN1","GRK1","GRM1","GRM6","GRM7","GTF2E2","GTF2H5","GTF2I","GTF2IRD1","GTF2IRD2","H1-4","H3-3A","H4C11","H4C3","H4C5","H4C9","HACE1","HADHA","HDAC8","HEATR3","HECW2","HERC2","HESX1","HHAT","HIBCH","HID1","HIRA","HK1","HLA-DQB1","HMGB3","HMX1","HNRNPH1","HNRNPH2","HNRNPR","HNRNPU","HOXA1","HOXA13","HOXB1","HPDL","HPS3","HPS5","HPS6","HRAS","HSD17B4","HSPD1","HSPG2","HUWE1","HYLS1","IARS2","IDH3A","IFT27","IFT74","IGF1R","IKBKG","IL1RAPL1","INPP5E","INPP5K","INTS1","IQSEC2","IRF2BPL","ISCA1","JAG1","JMJD1C","KANSL1","KAT5","KAT6A","KAT8","KATNIP","KCNA1","KCNAB2","KCNC3","KCNE5","KCNJ13","KCNMA1","KCNN2","KCNV2","KDM1A","KDM5B","KDM5C","KDM6A","KDM6B","KIAA0586","KIAA0753","KIDINS220","KIF14","KIF15","KIF21A","KIF22","KIF7","KLF13","KMT2A","KMT2B","KMT2D","KRAS","KRT10","KRT25","KRT71","KRT74","L1CAM","L2HGDH","LAGE3","LAMA1","LAMB2","LARGE1","LARP7","LARS2","LBR","LCA5","LETM1","LGI4","LIG4","LIMK1","LIPH","LMBRD2","LMNB1","LMX1B","LONP1","LPAR6","LRAT","LRIT3","LRMDA","LRP5","LRPPRC","LRRC32","LUZP1","LYRM7","LYST","LZTR1","MAB21L1","MAB21L2","MACF1","MAD2L2","MADD","MAFB","MAGEL2","MAN1B1","MAN2B1","MAP2K1","MAP2K2","MAP3K7","MAPK8IP3","MAPRE2","MAPT","MBD5","MC1R","MCM3AP","MCOLN1","MCTP2","MDH2","MECR","MED11","MED12","MED12L","MED13","MED13L","MED25","MEF2C","MEG3","METTL27","METTL5","MFRP","MID1","MID2","MKRN3","MKS1","MLXIPL","MMP23B","MN1","MPDU1","MPDZ","MPLKIP","MRAS","MRPS2","MRPS34","MT-ATP6","MT-ATP8","MT-ND1","MT-ND2","MT-ND3","MTFMT","MTOR","MTRFR","MYF5","MYH3","MYO1H","MYO5A","MYO9A","MYOD1","NAGA","NALCN","NANS","NAXE","NBAS","NCAPG2","NCDN","NCF1","NDN","NDP","NDST1","NDUFA1","NDUFA11","NDUFA6","NDUFAF1","NDUFAF2","NDUFAF3","NDUFAF4","NDUFAF5","NDUFAF8","NDUFB10","NDUFB11","NDUFB3","NDUFB9","NDUFS1","NDUFS2","NDUFS3","NDUFS4","NDUFS6","NDUFS7","NDUFS8","NDUFV1","NDUFV2","NEDD4L","NEK9","NELFA","NEU1","NEUROD2","NEXMIF","NF1","NFIX","NGLY1","NHLRC2","NHS","NIPBL","NKX6-2","NMNAT1","NODAL","NOG","NONO","NOP56","NOTCH1","NPAP1","NPC1","NPC2","NPHP1","NR2F1","NRAS","NRCAM","NRXN1","NSD1","NSD2","NSDHL","NSMF","NSUN2","NT5C2","NTNG2","NUBPL","NUP133","NXN","NYX","OCA2","OCRL","OFD1","OPA1","OPHN1","ORC1","OSGEP","OTUD5","OTX2","OVOL2","P4HTM","PACS1","PACS2","PAH","PAK1","PAK2","PALB2","PAX2","PAX3","PAX6","PBX1","PCDHGC4","PCYT1A","PDCD6IP","PDE4D","PDE6B","PDE6D","PDPN","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PGAP2","PGAP3","PGM2L1","PHF21A","PHGDH","PHIP","PHOX2A","PHOX2B","PI4KA","PIBF1","PIDD1","PIEZO2","PIGG","PIGL","PIGN","PIGO","PIGP","PIGQ","PIGT","PIGU","PIGV","PIGW","PIGY","PIK3R1","PIK3R5","PITX2","PLA2G6","PLK4","PLOD1","PLP1","PLPBP","PLXNA1","PLXND1","PMM2","PNKP","PNPLA6","PNPT1","POGZ","POLA1","POLG","POLR1B","POLR1C","POLR1D","POLR2A","POLR3A","POLR3B","POLRMT","POMGNT1","POMK","POMT1","POMT2","PORCN","POU3F4","POU4F1","PPM1D","PPP1R12A","PPP1R21","PPP2R5D","PQBP1","PRDM13","PRDM16","PRKACA","PRKACB","PRKAR1A","PRKAR1B","PRKCZ","PRMT7","PRNP","PROKR2","PRPS1","PRR12","PRSS12","PRSS56","PSAP","PSMC3","PSMD12","PTCH1","PTCH2","PTEN","PTPN11","PTRH2","PUF60","PURA","PUS3","PUS7","PWAR1","PWRN1","PYCR2","PYROXD1","RAB11B","RAB39B","RAB3GAP2","RAD21","RAD51","RAD51C","RAF1","RAI1","RASA2","RAX","RBL2","RBM8A","RBPJ","RECQL4","RERE","RET","REV3L","RFC2","RFWD3","RHO","RHOA","RIC1","RIT1","RMRP","RNASEH1","RNF113A","RNF135","RNF2","ROBO1","ROBO3","ROR2","RORA","RP1L1","RPE65","RPGRIP1L","RPL10","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS6KA3","RPS7","RRAS","RRAS2","RREB1","RRM2B","RSPRY1","RTL1","SAG","SALL1","SALL2","SALL4","SAMD9L","SARDH","SATB2","SBF1","SCN1B","SCN2A","SCN4A","SCN8A","SCNM1","SCO2","SCUBE3","SEC23A","SEC24C","SEMA3E","SET","SETBP1","SETD2","SETD5","SETX","SF3B2","SGPL1","SHANK3","SHH","SHMT2","SHOC2","SHROOM4","SIAH1","SIGMAR1","SIK1","SIL1","SIM1","SIN3A","SIX3","SIX6","SKI","SLC12A6","SLC16A2","SLC17A5","SLC18A3","SLC1A3","SLC24A1","SLC25A1","SLC25A22","SLC25A24","SLC25A4","SLC25A46","SLC2A1","SLC2A10","SLC30A9","SLC32A1","SLC35A2","SLC35C1","SLC37A4","SLC38A8","SLC39A8","SLC44A1","SLC5A7","SLC6A19","SLC6A8","SLC9A6","SLC9A7","SLX4","SMAD3","SMAD4","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SMC1A","SMC3","SMG8","SMG9","SNAP25","SNIP1","SNORD115-1","SNORD116-1","SNRPN","SOBP","SON","SOS1","SOS2","SOST","SOX11","SOX2","SOX3","SOX4","SOX5","SPATA5","SPATA7","SPECC1L","SPEN","SPG11","SPG7","SPOP","SPRED2","SPTBN1","SPTBN2","SPTLC1","SQSTM1","SRCAP","SREBF1","SSR4","STAG1","STRADA","STT3A","STX1A","STXBP1","SUCLA2","SUCLG1","SUFU","SUPT16H","SYNE1","SYNGAP1","SYNJ1","SYT1","SYT2","TAF1","TAF2","TANGO2","TAOK1","TARDBP","TARS1","TASP1","TBC1D23","TBC1D24","TBC1D2B","TBC1D7","TBCD","TBCK","TBK1","TBL1XR1","TBL2","TBX1","TBX15","TBX4","TCEAL1","TCF12","TCF20","TCF4","TCOF1","TCTN1","TCTN2","TCTN3","TDGF1","TDO2","TELO2","TENM3","TET3","TFAP2A","TFAP2B","TFE3","TGFBI","TGFBR1","TGFBR2","TGIF1","THG1L","THOC2","TIMM50","TIMMDC1","TKFC","TKT","TLK2","TMCO1","TMEM126A","TMEM126B","TMEM138","TMEM216","TMEM218","TMEM222","TMEM231","TMEM237","TMEM240","TMEM270","TMEM53","TMEM63C","TMEM67","TMEM94","TMEM98","TNPO2","TOGARAM1","TOPORS","TOR1A","TRAF3IP1","TRAPPC11","TRAPPC6B","TREX1","TRIM37","TRIM8","TRIO","TRIP11","TRIP12","TRIT1","TRPM1","TRPM3","TSEN15","TSR2","TTI2","TUBA1A","TUBB2B","TUBB3","TUBGCP4","TUBGCP6","TWIST1","TWIST2","TWNK","TYR","TYRP1","UBA2","UBAP1","UBE2A","UBE2T","UBE3A","UBE3B","UBE4B","UBR1","UFC1","UFD1","UFSP2","UNC80","USP7","USP9X","VAMP1","VCP","VLDLR","VPS13A","VPS13B","VPS37D","VPS50","VPS51","VPS53","VRK1","VSX1","WAC","WARS2","WASF1","WASHC4","WDR11","WDR26","WDR35","WDR45","WDR73","WDR81","WNT5A","WT1","XPA","XPC","XRCC2","YAP1","YARS2","YME1L1","YY1","ZBTB20","ZC4H2","ZDHHC9","ZEB1","ZEB2","ZFHX4","ZIC1","ZIC2","ZMIZ1","ZNF292","ZNF407","ZNF408","ZNF423","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_UNDETECTABLE_ELECTRORETINOGRAM":{"collection":"C5:HPO","systematicName":"M34794","pmid":"","exactSource":"HP:0000550","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000550","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UNDETECTABLE_ELECTRORETINOGRAM","geneSymbols":["CC2D2A","CLCC1","CLN3","CLN8","CRB1","CRX","EYS","FLVCR1","HSD17B4","IFT140","KIZ","LCA5","LRAT","MYO7A","NMNAT1","NR2E3","NRL","PDE6D","POMGNT1","PPT1","PRCD","PROM1","RPE65","RPGRIP1","SPATA7","TPP1","TULP1","USH1C"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_COLOR_VISION_DEFECT":{"collection":"C5:HPO","systematicName":"M34795","pmid":"","exactSource":"HP:0000551","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000551","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_COLOR_VISION_DEFECT","geneSymbols":["ABCA4","ACO2","ADAM9","AFG3L2","AIPL1","ALDH3A2","ANOS1","ATF6","BEST1","C1QTNF5","CABP4","CACNA1F","CACNA2D4","CCDC141","CDHR1","CEP78","CFAP410","CFAP418","CHD7","CNGA3","CNGB3","CNNM4","CRX","CYP4V2","DCC","DNAJC6","DNM1L","DRAM2","DUSP6","ELOVL4","FA2H","FEZF1","FGF14","FGF17","FGF8","FGFR1","FLRT3","GNAT1","GNAT2","GNB3","GPR179","GRK1","GRM6","GUCA1A","GUCY2D","HESX1","HGSNAT","HS6ST1","HTRA2","IL17RD","IMPG1","IMPG2","LCA5","LRAT","LRIT3","LRRK2","MFN2","MFSD8","MORC2","MTRFR","MTTP","NBAS","NDNF","NMNAT1","NR2E3","NYX","OFD1","OPA1","OPA3","OPN1LW","OPN1MW","OPN1SW","PARK7","PDE6B","PDE6C","PDE6H","PDXK","PINK1","PITPNM3","POC1B","PODXL","POLG","PRKN","PROK2","PROKR2","PROM1","PRPH2","RAB28","RAX2","RBP4","RGS9","RHO","RIMS1","RLBP1","RPE65","RPGR","RPGRIP1","RTN4IP1","SAG","SEMA3A","SEMA4A","SLC24A1","SNCA","SOX10","SPATA7","SPRY4","SYNJ1","TACR3","TIMM8A","TK2","TLCD3B","TMEM126A","TRPM1","TTLL5","TULP1","UCHL1","UNC119","VPS13C","WDR11"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_TRITANOMALY":{"collection":"C5:HPO","systematicName":"M34796","pmid":"","exactSource":"HP:0000552","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000552","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TRITANOMALY","geneSymbols":["C1QTNF5","DNM1L","GUCY2D","NR2E3","OPA1","OPA3","OPN1SW","POC1B","RBP4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_UVEA_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M34797","pmid":"","exactSource":"HP:0000553","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000553","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_UVEA_MORPHOLOGY","geneSymbols":["AAAS","ABCA4","ABCB6","ABCC6","ACTA2","ACTB","ACTG1","ACVRL1","ADAMTS17","ADAMTS18","ADAMTSL1","ADAMTSL4","ADGRV1","ADNP","AGXT","AHI1","AIRE","AKT1","ALDH1A3","ALG2","ALG3","ALX3","ANK1","ANKRD55","AP1S3","AP3B1","AP3D1","APOE","ARL13B","ARL3","ARL6IP6","ARMC9","ARSG","ASPH","ATOH7","ATP10A","ATP6V1A","B3GALNT2","B3GLCT","B4GAT1","B9D1","B9D2","BAP1","BAZ1B","BCL10","BCL7B","BCOR","BDNF","BEST1","BIRC3","BLM","BLOC1S3","BLOC1S5","BLOC1S6","BMP4","BRCA1","BRCA2","BRIP1","BTNL2","BTRC","BUD23","C12orf57","C1QTNF5","CAPN5","CASK","CASP10","CASZ1","CBY1","CC2D2A","CCDC22","CCM2","CD247","CD27","CDH23","CDON","CENPF","CEP104","CEP120","CEP290","CEP41","CEP78","CFH","CFHR1","CFHR3","CFI","CHD7","CHM","CHN1","CHRDL1","CIB2","CLCN2","CLCNKB","CLDN19","CLEC3B","CLIP2","CLRN1","CNGB3","COL18A1","COL25A1","COL3A1","COL4A1","COL8A2","COQ2","COX7B","CPAMD8","CPLANE1","CPLX1","CRB1","CRPPA","CRX","CRYAA","CRYBA4","CRYBB1","CRYBB2","CRYGC","CRYGD","CSPP1","CTBP1","CTNNB1","CYP1B1","CYP4V2","CYSLTR2","DACT1","DAG1","DCT","DDX6","DHCR7","DHX16","DIS3L2","DISP1","DLL1","DLST","DLX5","DLX6","DNAJC30","DNASE1L3","DPP6","DPYSL5","DTNBP1","DYRK1A","EDC3","EDN3","EDNRB","EFEMP1","EIF4H","ELN","ELOVL4","ELP1","ELP4","ENPP1","EPG5","EPHA2","EPS15L1","ERCC1","ERCC4","ERCC6","ERCC8","ERF","ESPN","EYS","FAM111A","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FAS","FASLG","FBLN1","FBLN5","FBN1","FBN2","FBXW4","FGF3","FGF8","FGFR1","FGFR2","FGFRL1","FH","FKBP6","FKRP","FKTN","FLI1","FLNA","FOXC1","FOXE3","FOXH1","FOXP1","FSCN2","FZD4","GABRD","GAS1","GATA1","GDF3","GFAP","GJA1","GJA8","GLI2","GMPPA","GMPPB","GNA11","GNAQ","GPC3","GPR143","GPR35","GRHL2","GTF2I","GTF2IRD1","GTF2IRD2","GUCA1A","GUCY2D","GZF1","H19","HADHA","HARS1","HCCS","HERC2","HEY2","HHAT","HLA-A","HLA-B","HLA-DRB1","HMCN1","HMGB3","HMX1","HPS1","HPS4","HPS5","HPS6","HRAS","HS2ST1","HSPG2","HYLS1","IDS","IFNG","IFT74","IGBP1","IGF1R","IKBKG","IL2RA","IL2RB","IL36RN","IL6","IMPG1","IMPG2","INPP5E","IRF4","ITPR1","JAG1","KANSL1","KATNIP","KCNAB2","KCTD1","KIAA0586","KIAA0753","KIF11","KIF1B","KIF21A","KIFBP","KIT","KITLG","KMT2D","KRAS","KRIT1","KRT25","KRT71","KRT74","LACC1","LAMB2","LARGE1","LCA5","LDHD","LETM1","LIMK1","LIPH","LMX1B","LOX","LOXL1","LPAR6","LRAT","LRBA","LRMDA","LRP2","LRP5","LTBP2","LUZP1","LYST","MAB21L2","MAD2L2","MAF","MAFB","MAGEL2","MALT1","MAPK1","MAPKAPK3","MAT2A","MAX","MBTPS2","MC1R","MDH2","MED12L","METTL27","MFAP5","MFRP","MICOS13","MIF","MIR184","MIR204","MITF","MKRN3","MKS1","MLPH","MLXIPL","MMP14","MMP2","MMP23B","MPDZ","MPZ","MSH6","MST1","MT-TE","MT-TK","MT-TL1","MT-TS2","MTSS2","MYH11","MYLK","MYO5A","MYO7A","MYOC","NAA10","NCF1","NDE1","NDN","NDP","NDUFB11","NELFA","NF1","NF2","NLRP1","NLRP3","NOD2","NODAL","NOTCH2","NOTCH3","NPAP1","NPHP1","NRAS","NRL","NSD2","OAT","OCA2","OCRL","OFD1","OTX2","OVOL2","PAH","PALB2","PAX2","PAX3","PAX6","PCDH15","PCYT1A","PDCD10","PDE4D","PDE6D","PDPN","PDZD7","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PHOX2A","PHOX2B","PIBF1","PIGG","PIGL","PIK3CA","PIK3R1","PITX2","PMP22","PNPLA6","POGZ","POLR1B","POLR1C","POLR1D","POMGNT1","POMGNT2","POMK","POMT1","POMT2","PORCN","POU3F4","POU6F2","PRDM16","PRKAR1A","PRKCD","PRKCZ","PRKG1","PROM1","PRPH2","PRR12","PRSS56","PTCH1","PTCH2","PTEN","PTPN2","PTPN22","PUF60","PWAR1","PWRN1","PXDN","RAB27A","RAD51","RAD51C","RASGRP1","RAX","RB1","RBP4","RERE","REST","RET","RFC2","RFWD3","RHOA","RLBP1","RLIM","RNU7-1","ROBO1","ROM1","ROR1","RP2","RPE65","RPGRIP1","RPGRIP1L","RSPO2","RXYLT1","SAG","SALL1","SALL2","SALL4","SDHA","SDHAF2","SDHB","SDHC","SDHD","SEM1","SEMA3E","SEMA4D","SF3B1","SH3TC2","SHH","SIM1","SIN3A","SIX3","SIX6","SKI","SLC24A5","SLC25A11","SLC25A15","SLC45A2","SLX4","SMAD2","SMAD3","SMAD4","SMCHD1","SMO","SNAI2","SNORD115-1","SNORD116-1","SNRPN","SOS1","SOX10","SOX2","SPATA7","SPEN","SPRED1","SPTBN1","SRD5A3","STAT4","STIM1","STUB1","STX1A","SUFU","TBL2","TBR1","TBX2","TBX22","TCEAL1","TCF4","TCOF1","TCTN1","TCTN2","TCTN3","TDGF1","TEAD1","TENM3","TFAP2A","TGFB2","TGFB3","TGFBR1","TGFBR2","TGIF1","THSD4","TIMP3","TINF2","TKT","TMEM107","TMEM127","TMEM138","TMEM216","TMEM218","TMEM231","TMEM237","TMEM270","TMEM67","TMEM98","TNFAIP3","TNFRSF1A","TOGARAM1","TONSL","TP63","TRAPPC11","TRIM28","TRIM37","TRIM44","TRIP13","TRPM3","TSC1","TSC2","TSPAN12","TUBA1A","TUBB2B","TUBB3","TUBGCP4","TUBGCP6","TXNDC15","TYR","TYRP1","UBE2T","UBE3A","UBE3B","UBE4B","USH1C","USH1G","USH2A","VCAN","VHL","VPS13B","VPS33A","VPS35L","VPS37D","VSX1","VSX2","WAC","WASHC5","WDR45","WDR73","WHRN","WNT10B","WNT3","WT1","XRCC2","XYLT1","XYLT2","YAP1","ZEB1","ZEB2","ZIC2","ZNF408","ZNF423","ZNF668"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_UVEITIS":{"collection":"C5:HPO","systematicName":"M34798","pmid":"","exactSource":"HP:0000554","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000554","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UVEITIS","geneSymbols":["AIRE","ANKRD55","AP1S3","ATOH7","BCL10","BIRC3","BLM","BTNL2","CAPN5","CASP10","CD247","CD27","DNASE1L3","ERCC1","ERCC4","ERCC6","ERCC8","FAS","FASLG","FOXP1","GJA1","GPR35","HLA-B","HLA-DRB1","IKBKG","IL2RA","IL2RB","IL36RN","IL6","IRF4","LACC1","LRBA","MALT1","MBTPS2","MIF","MST1","NLRP1","NLRP3","NOD2","PRKCD","PTPN2","PTPN22","RASGRP1","SEMA4D","STAT4","STUB1","TCF4","TKT","TNFAIP3","TNFRSF1A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LEUKOCORIA":{"collection":"C5:HPO","systematicName":"M45393","pmid":"","exactSource":"HP:0000555","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000555","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LEUKOCORIA","geneSymbols":["ARL6IP6","ATOH7","FZD4","GNA11","NDP","RB1","TINF2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RETINAL_DYSTROPHY":{"collection":"C5:HPO","systematicName":"M34799","pmid":"","exactSource":"HP:0000556","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000556","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETINAL_DYSTROPHY","geneSymbols":["ABCA4","ABHD12","ACBD5","ACO2","ACOX1","ADAM9","ADGRV1","AGBL5","AHI1","AHR","AIPL1","ALG6","ALMS1","ALPK1","AMACR","ANK1","AP3B2","APOB","ARL2","ARL2BP","ARL3","ARL6","ARMC9","ARV1","ASPA","ATP2B2","ATP5F1A","ATP5F1D","ATP5F1E","ATP5MK","ATPAF1","ATPAF2","ATXN2","ATXN7","B3GALNT2","B4GAT1","BBIP1","BBS1","BBS10","BBS12","BBS2","BBS4","BBS5","BBS7","BBS9","BCS1L","BEST1","BMP4","CABP4","CACNA1F","CACNA2D4","CC2D2A","CCDC103","CCDC28B","CCDC39","CCDC40","CCDC65","CCNO","CCNQ","CDH23","CDH3","CDHR1","CEP120","CEP164","CEP290","CEP41","CERKL","CFAP221","CFAP298","CFAP300","CFAP410","CFAP418","CFAP74","CFH","CFI","CHST6","CIB2","CLCN3","CLDN19","CLN3","CLRN1","CNGA1","CNGB1","CNNM4","COL4A1","COQ2","COX7B","CRB1","CRPPA","CRX","CRYAB","CSPP1","CTNNA1","CTSD","CWC27","DAG1","DDR2","DHDDS","DHX38","DNAAF1","DNAAF11","DNAAF2","DNAAF3","DNAAF4","DNAAF5","DNAAF6","DNAH1","DNAH11","DNAH5","DNAH9","DNAI1","DNAI2","DNAJB13","DNAJC21","DNAL1","DPAGT1","DRAM2","DRC1","DYNC2I2","EFEMP1","ELOVL4","ERCC6","ERCC8","EXOSC2","EXOSC3","EYS","FAM161A","FDXR","FGFR2","FKRP","FKTN","FLVCR1","FOXJ1","FSCN2","GAS2L2","GAS8","GATA3","GGCX","GNAT1","GNB3","GPR179","GRK1","GRM6","GRN","GUCA1A","GUCA1B","GUCY2D","HACE1","HCCS","HGSNAT","HID1","HK1","HMX1","HSD17B10","HSPD1","HYDIN","IDH3B","IFT122","IFT140","IFT172","IFT27","IFT74","IMPDH1","IMPG1","IMPG2","INPP5E","INVS","IQCB1","ITM2B","KCNV2","KIAA0586","KIF11","KIF3B","KIF5A","KIZ","KLHL7","LAMA1","LARGE1","LRAT","LRIT3","LRP2","LRRC56","LZTFL1","MAK","MAPKAPK3","MCIDAS","MDH2","MERTK","MFSD8","MKKS","MKS1","MSRB3","MT-ATP6","MT-ATP8","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND5","MT-ND6","MT-TE","MT-TK","MT-TL1","MT-TV","MT-TW","MTTP","MVK","MYO5A","MYO6","MYO7A","NDUFA1","NDUFA9","NDUFB11","NEK1","NEK10","NEK2","NGLY1","NME5","NME8","NPHP1","NPHP3","NPHP4","NR2E3","NRL","NYX","ODAD1","ODAD2","ODAD3","ODAD4","OFD1","OTX2","PANK2","PCARE","PCDH15","PCYT1A","PDE6A","PDE6B","PDE6C","PDE6G","PDE6H","PDZD7","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PEX7","PGAP1","PGK1","PHYH","PIBF1","PITPNM3","PMM2","PNPLA6","POC1B","POGZ","POMGNT1","POMGNT2","POMK","POMT1","POMT2","PPP2R3C","PRCD","PROM1","PRPF3","PRPF31","PRPF4","PRPF6","PRPF8","PRPH2","PRPS1","RAB28","RAX2","RBP3","RBP4","RCBTB1","RDH11","RDH12","RDH5","REEP6","RGR","RHO","RLBP1","RNF113A","RNU4ATAC","ROM1","RP1","RP1L1","RP2","RP9","RPE65","RPGR","RPGRIP1","RPGRIP1L","RPL10","RRM2B","RSPH1","RSPH3","RSPH4A","RSPH9","RXYLT1","SAG","SDCCAG8","SEMA4A","SH2B1","SIX6","SLC19A2","SLC24A1","SLC35A2","SLC7A14","SNRNP200","SPAG1","SPEF2","SRD5A3","STK36","SYCE1","TELO2","TIMP3","TMEM138","TMEM216","TMEM218","TMEM231","TMEM237","TMEM67","TOPORS","TRAF3IP1","TRAPPC9","TRIP13","TRNT1","TRPM1","TTC12","TTC8","TTLL5","TUB","TUBGCP6","TULP1","UBE3B","UNC119","USH1C","USH1G","USH2A","VPS13B","VPS4A","WARS2","WDR19","WHRN","ZMYND10","ZNF408","ZNF423","ZNF513","ZPR1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BUPHTHALMOS":{"collection":"C5:HPO","systematicName":"M34800","pmid":"","exactSource":"HP:0000557","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000557","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BUPHTHALMOS","geneSymbols":["ADAMTSL1","AKT1","ATOH7","CYP1B1","DAG1","FGFR2","FKRP","FKTN","FUT8","FZD4","GLIS3","GNAQ","LARGE1","LTBP2","MAB21L1","NCAPG2","NDP","OCRL","POMGNT1","POMT1","POMT2","PTEN","PXDN","SBF2","SH3PXD2B","SIX6","TWIST1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RIEGER_ANOMALY":{"collection":"C5:HPO","systematicName":"M34801","pmid":"","exactSource":"HP:0000558","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000558","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RIEGER_ANOMALY","geneSymbols":["ADAMTSL1","CPLX1","CTBP1","FGFRL1","FOXC1","IGF1R","LAMB2","LETM1","NSD2","PAX6","PIK3R1","PITX2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CORNEAL_SCARRING":{"collection":"C5:HPO","systematicName":"M34802","pmid":"","exactSource":"HP:0000559","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000559","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CORNEAL_SCARRING","geneSymbols":["COL17A1","COL7A1","CREBBP","DST","EP300","ERCC4","GJB2","MMP1","MPV17","NCAPG2","NGLY1","NTRK1","OCRL","POLA1","PRDM12","PRDM5","SIX6","TGFBI","UROS","ZFHX2","ZNF469"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LACRIMAL_DUCT_ATRESIA":{"collection":"C5:HPO","systematicName":"M41220","pmid":"","exactSource":"HP:0000564","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000564","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LACRIMAL_DUCT_ATRESIA","geneSymbols":["FGFR3","IGSF3","NDUFB11","PAX3","SMCHD1","TP63"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CHORIORETINAL_COLOBOMA":{"collection":"C5:HPO","systematicName":"M34803","pmid":"","exactSource":"HP:0000567","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000567","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHORIORETINAL_COLOBOMA","geneSymbols":["ABCB6","ACTB","AKT1","BCOR","BMP4","C12orf57","CASK","CC2D2A","CCDC22","CEP290","CHD7","CHN1","CLDN19","DACT1","DPYSL5","GDF3","GZF1","HHAT","HMGB3","HMX1","INPP5E","MAFB","MPDZ","NAA10","PAX6","PIGL","PORCN","PTEN","RBP4","RERE","RPGRIP1L","SALL1","SALL4","SEMA3E","SHH","SIX3","SIX6","SPTBN1","TBX22","TMEM138","TMEM216","TMEM231","TMEM237","TMEM67","VPS35L","WAC","WASHC5","YAP1","ZEB2","ZNF423","ZNF668"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MICROPHTHALMIA":{"collection":"C5:HPO","systematicName":"M47035","pmid":"","exactSource":"HP:0000568","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000568","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MICROPHTHALMIA","geneSymbols":["AARS1","ABCB6","ACTB","ACTG1","ALDH1A3","ALDH6A1","ALX1","ALX3","ALX4","AP2M1","ARHGAP31","ARVCF","ARX","ASPH","ATN1","ATOH7","B3GALNT2","B4GAT1","B9D1","B9D2","BCOR","BEST1","BMP4","BRCA1","BRCA2","BRIP1","BUB1","BUB1B","BUB3","C12orf57","CAPN15","CARS1","CC2D2A","CENPF","CEP120","CEP290","CEP57","CHD2","CHD7","CHUK","COL4A1","COMT","COX14","COX7B","CRB1","CRPPA","CRYAA","CSPP1","CTDP1","CTNNB1","DACT1","DAG1","DLL4","DOCK6","DONSON","DPYD","EBP","EOGT","ERCC1","ERCC2","ERCC3","ERCC4","ERCC5","ERCC6","ERCC8","ESCO2","FAM111A","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FBXW11","FGF3","FGFR1","FIG4","FKRP","FKTN","FOXC2","FOXE3","FOXL2","FRAS1","FREM1","FREM2","FZD4","GDF3","GDF6","GJA1","GJA5","GJA8","GLI2","GLI3","GMPPB","GP1BB","GPRASP2","GRIP1","GTF2E2","GTF2H5","HCCS","HDAC6","HIRA","HMGB3","HMX1","HRAS","HYLS1","IKBKG","INTS1","INTU","JAM3","JARID2","JMJD1C","KERA","KIF11","KIF14","KIF15","KIF7","KMT2D","KRAS","LAMB2","LARGE1","LMBRD2","LRP5","MAB21L2","MAD2L2","MAPRE2","MBTPS2","MED12","MED13L","MED25","MFRP","MITF","MKS1","MPLKIP","MT-CYB","NAA10","NDP","NDUFB11","NEXMIF","NHS","NOTCH1","NRAS","NUP188","OCRL","OSGEP","OTX2","PALB2","PAX2","PAX6","PCYT1A","PDE6D","PDGFRB","PEX7","PHGDH","PHYH","PIEZO2","PIGN","PIK3CA","PITX3","PLK4","POLR1B","POLR1C","POLR1D","POMGNT1","POMGNT2","POMK","POMT1","POMT2","PORCN","PQBP1","PRIM1","PRR12","PRSS56","PTCH1","PUF60","PXDN","RAB18","RAB3GAP1","RAB3GAP2","RAD51","RAD51C","RARB","RAX","RB1","RBBP8","RBP4","RBPJ","RECQL4","RERE","RFWD3","RHOA","RIPK4","RNF113A","RPGRIP1","RPGRIP1L","RREB1","RSPO2","RTTN","RXYLT1","SALL1","SALL4","SCN1A","SEC24C","SEMA3E","SETD5","SF3B2","SHH","SIN3A","SIX3","SIX6","SLC16A12","SLC25A24","SLC2A1","SLC38A8","SLC6A1","SLX4","SMAD4","SMC5","SMCHD1","SMG9","SMO","SMOC1","SNX10","SOX2","SPECC1L","SRD5A3","STRA6","SYCE1","SYNGAP1","TARS1","TBC1D20","TBCE","TBL1XR1","TBR1","TBX1","TBX15","TCOF1","TCTN1","TCTN2","TCTN3","TENM3","TFAP2A","TKFC","TMEM107","TMEM216","TMEM231","TMEM237","TMEM67","TMEM98","TMTC3","TOGARAM1","TRIP13","TSPAN12","TUBB","TUBGCP4","TUBGCP6","TXNDC15","UBE2T","UFD1","VAC14","VAX1","VPS13B","VPS35L","VSX2","WDR37","WDR73","WNT3","WNT7B","XRCC2","XYLT2","YAP1","ZEB2","ZNF408","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_SACCADIC_EYE_MOVEMENTS":{"collection":"C5:HPO","systematicName":"M34804","pmid":"","exactSource":"HP:0000570","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000570","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SACCADIC_EYE_MOVEMENTS","geneSymbols":["AFG3L2","AGTPBP1","ALS2","ANO10","APTX","ATP13A2","ATP1A2","ATP1A3","ATP2B3","ATXN1","ATXN2","ATXN3","ATXN7","ATXN8OS","CACNA1A","CACNA1G","CHP1","CLCN7","COQ5","DARS2","DHX16","DNAJC6","EEF2","ELOVL5","FBXO7","FRMD5","FXN","GBA1","GBA2","GDAP2","GJC2","GRM1","INPP5E","ITPR1","KCNN2","KIF1A","KIF1B","MAPT","MECR","MFN2","MME","MRE11","MYORG","NDUFA13","NKX6-2","NOP56","NPHP1","PDYN","PEX10","PEX2","PIK3R5","PLA2G6","PLD3","PNKP","PRDX3","PRNP","SCP2","SCYL1","SHMT2","SLC1A3","SLC35A2","SLC44A1","SLC6A3","SNCA","SNX10","SOX3","SPTBN2","SYNE1","SYT2","TCIRG1","TGM6","TMEM216","TMEM240","TNFSF11","TNR","TPP1","TUBB3","TUBB4A","UBAP1","VAMP1","VPS13A","VPS13D","VPS41","XRCC1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPOMETRIC_SACCADES":{"collection":"C5:HPO","systematicName":"M34805","pmid":"","exactSource":"HP:0000571","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000571","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOMETRIC_SACCADES","geneSymbols":["APTX","CACNA1G","COQ5","DNAJC6","GBA1","GRM1","MAPT","MME","MRE11","MYORG","NKX6-2","NPHP1","PLA2G6","SLC1A3","SPTBN2","TUBB4A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_VISUAL_LOSS":{"collection":"C5:HPO","systematicName":"M34806","pmid":"","exactSource":"HP:0000572","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000572","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VISUAL_LOSS","geneSymbols":["ABCA4","ABCD1","ADAMTS10","ADGRV1","AGBL1","AGTPBP1","AHI1","AIP","AKT1","ALMS1","ALPK1","ANKRD55","APOE","ARL3","ARSG","ATP1A3","ATXN7","BAP1","BCOR","BRAF","BTD","C19orf12","C1QTNF5","CA2","CARS2","CCND1","CD247","CDH23","CDHR1","CEP120","CEP164","CEP290","CEP41","CEP78","CFAP418","CFH","CFHR1","CFHR3","CFI","CHM","CIB2","CLCN7","CLN3","CLN5","CLN6","CLN8","CLRN1","COL17A1","COL18A1","COL2A1","COL4A1","COL7A1","COL8A2","COQ2","COX6B1","COX7B","CSPP1","CTNNB1","CTSD","CYP1B1","CYP4V2","CYSLTR2","DCN","DNAJC30","DNM1L","EFEMP1","ELMO2","EPM2A","EPRS1","ESPN","EXOSC3","EXOSC8","EXOSC9","FA2H","FBN1","FGFR2","FLVCR1","FOXC1","GALC","GATA2","GJB2","GJB6","GNA11","GNAQ","GNAS","GUCA1A","GUCY2D","HADHA","HARS1","HCCS","HLA-A","HLA-B","HLA-DRB1","HMCN1","HSD17B10","HSD17B4","IFT140","IL2RA","IL2RB","INPP5E","INVS","IQCB1","KARS1","KCTD7","KIAA0586","KIAA1549","KIF11","KIF1A","LAMC3","LCA5","LRP2","LSS","LTBP2","MEN1","MERTK","MFN2","MFSD8","MKS1","MMP1","MT-ATP6","MT-CO1","MT-CO2","MT-CO3","MT-CYB","MT-ND1","MT-ND2","MT-ND4","MT-ND4L","MT-ND5","MT-ND6","MT-TF","MT-TH","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TW","MTTP","MYO7A","MYOC","NBAS","NDUFB11","NDUFS2","NEU1","NF1","NF2","NHLRC1","NHS","NOD2","NOTCH3","NPHP1","NPHP3","NPHP4","OAT","OPA1","P4HA2","PAK2","PAX6","PCDH15","PCYT1A","PDGFB","PDZD7","PEX13","PEX7","PGK1","PHYH","PIK3CA","PLA2G6","PMPCB","PNPLA6","POLA1","POLG","POLG2","PPT1","PRDM5","PRPH2","PRPS1","PSAP","PTPN2","PTPN22","RAX2","RDH11","RDH5","RHO","RLBP1","RP1L1","RS1","SDCCAG8","SEMA4A","SF3B1","SH3BP2","SLC19A2","SLC25A46","SLC4A11","SLC52A2","SMARCB1","SMARCE1","SMCHD1","SMO","SNX10","SON","SOST","SOX2","SPATA7","SPTBN1","SRD5A3","ST3GAL5","STAT4","SUFU","TAT","TBC1D24","TCF4","TCOF1","TEK","TERT","TFG","TGFBI","TIMM8A","TIMP3","TNFRSF11A","TPP1","TRAF3IP1","TRAF7","TREX1","TRIM44","TUBB3","UCHL1","USH1C","USH1G","USH2A","VCAN","VHL","VRK1","WAC","WDR19","WHRN","XYLT2","ZEB1","ZNF408","ZNF469","ZNHIT3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RETINAL_HEMORRHAGE":{"collection":"C5:HPO","systematicName":"M34807","pmid":"","exactSource":"HP:0000573","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000573","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETINAL_HEMORRHAGE","geneSymbols":["ABCC6","APOE","ATP6V0A2","ATP6V1A","ATP6V1E1","CFH","CFHR1","CFHR3","CFI","COL4A1","DNM2","DST","EFEMP1","ENPP1","ERCC6","ERCC8","GCDH","HMCN1","IFNG","IKBKG","LAMB2","MYD88","PRF1","SBDS","TERC","TERT","TREX1","XYLT1","XYLT2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_THICK_EYEBROW":{"collection":"C5:HPO","systematicName":"M34808","pmid":"","exactSource":"HP:0000574","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000574","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THICK_EYEBROW","geneSymbols":["ABCA5","ABCC9","ACER3","AFF4","AIFM1","ANKRD11","ARID1A","ARID1B","ARID2","ASXL3","ATP6V1B2","AUTS2","B3GAT3","BCAS3","BCOR","BICRA","BPTF","BRD4","CCDC8","CDH11","CDK13","CDON","CHD1","CHMP1A","CHST3","CLCN3","CNOT2","COL1A2","CPLX1","CREBBP","CTCF","CUL7","CWF19L1","DDB1","DENND5A","DNMT3A","DOCK7","DPF2","EBF3","EP300","ERLIN2","EXT1","FBXL4","FBXO31","FHL1","FOXL2","FREM1","FRMD4A","FUCA1","GNB2","GNS","GPRASP2","GUSB","H4C5","HDAC8","HECW2","HMGA2","IARS2","IDUA","IGF1R","JARID2","KCNH1","KCNJ8","KCNK4","KCNMA1","KCNN3","KDM5C","KIFBP","KMT2A","KMT2C","KNL1","LAS1L","LEMD3","MAGEL2","MAN2B1","MAP3K7","MAPK8IP3","MBD5","MEF2C","MGAT2","MN1","MTHFS","NBAS","NFIX","NIPBL","NOTCH2","NRCAM","NSUN2","OBSL1","PAX3","PDCD6IP","PHF6","PHIP","PPP1R21","PRKG2","PRR12","PSMC1","PSMD12","PUF60","RAD21","RALGAPA1","RBM10","RET","RHOBTB2","RNF125","RPS23","RPS6KA3","RUSC2","SATB1","SETD1B","SHANK3","SIM1","SLC25A24","SLC35A2","SLC6A17","SLC9A6","SMAD4","SMARCA2","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SMC1A","SMC3","SOX11","SOX4","SOX6","SPECC1L","SPEN","SPTBN1","SUMF1","TAF1","TAF6","TASP1","TBCK","TBL1XR1","TFAP2B","TMCO1","TP63","TRIO","TRPS1","TUBGCP2","UBR7","VPS13B","WAC","WNT4","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SCOTOMA":{"collection":"C5:HPO","systematicName":"M34809","pmid":"","exactSource":"HP:0000575","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000575","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SCOTOMA","geneSymbols":["ABCA4","ACO2","ADGRV1","ARSG","ATF6","ATP1A2","BTD","C1QTNF5","CACNA1A","CACNA1F","CDH23","CEP78","CFAP410","CFH","CFI","CIB2","CLRN1","CNGA3","CNGB3","CNNM4","CRX","CYP1B1","CYP4V2","DNAJC30","DNM1L","EFEMP1","ELOVL4","ESPN","FDXR","FLVCR1","GNAT2","HARS1","HGSNAT","HKDC1","HLA-A","IMPG2","ITM2B","KCNV2","MFN2","MFSD8","MT-ATP6","MT-CO1","MT-CO3","MT-CYB","MT-ND1","MT-ND2","MT-ND4","MT-ND4L","MT-ND5","MT-ND6","MT-TS2","MTRFR","MTTP","MYO7A","MYOC","NDUFS2","OPA1","OPA3","PCDH15","PDE6C","PDE6H","PDZD7","PITPNM3","POC1B","PROM1","PRPF3","PRPH2","PRRT2","RAB28","RBP3","RDH5","RHO","RLBP1","RP1","RP2","RPGR","RTN4IP1","SCN1A","SLC25A46","TIMM8A","TMEM126A","TRNT1","UNC119","USH1C","USH1G","USH2A","WHRN"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CENTROCECAL_SCOTOMA":{"collection":"C5:HPO","systematicName":"M34810","pmid":"","exactSource":"HP:0000576","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000576","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CENTROCECAL_SCOTOMA","geneSymbols":["DNAJC30","MT-ATP6","MT-CO1","MT-CO3","MT-CYB","MT-ND1","MT-ND2","MT-ND4","MT-ND4L","MT-ND5","MT-ND6","NDUFS2","OPA1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NASOLACRIMAL_DUCT_OBSTRUCTION":{"collection":"C5:HPO","systematicName":"M34811","pmid":"","exactSource":"HP:0000579","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000579","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NASOLACRIMAL_DUCT_OBSTRUCTION","geneSymbols":["CD151","CREBBP","EP300","EYA1","FGFR2","FREM1","HMX1","IGSF3","KAT6A","KNSTRN","MED12","MEGF8","NHP2","NOP10","PAX1","PIK3CD","PPP1CB","PRR12","PTDSS1","SIX1","SMC3","SMC5","SOX6","SPRED2","TAF1","TCOF1","TET3","TFAP2A","TGDS","TP63","USB1","YY1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PIGMENTARY_RETINOPATHY":{"collection":"C5:HPO","systematicName":"M34812","pmid":"","exactSource":"HP:0000580","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000580","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PIGMENTARY_RETINOPATHY","geneSymbols":["ABCA4","ACOX1","AGBL5","AHI1","AIRE","ALMS1","AMACR","ARL13B","ARL3","ARL6","ARSG","ATXN7","BBIP1","BBS1","BBS10","BBS12","BBS2","BBS4","BBS5","BBS7","BBS9","BEST1","CAV1","CCDC28B","CEP19","CEP290","CFAP410","CFAP418","CHM","CLCC1","CLN3","CLRN1","CNGA1","CNGB1","CNNM4","COA8","COX7B","COX8A","CRB1","CRX","CTNS","CYP4V2","DHX38","ERCC3","ERCC4","ERCC6","ERCC8","EYS","FAM161A","FKRP","FLVCR1","FSCN2","GMPPB","GRM6","GSS","GUCY2D","HADH","HADHA","HADHB","HCCS","HGSNAT","HK1","HKDC1","IDH3A","IDH3B","IFT140","IFT172","IFT27","IFT43","IFT74","IMPDH1","IMPG2","ISCA1","JAG1","KIAA1549","KIZ","LARGE1","LCA5","LRAT","LZTFL1","MAK","MECR","MED12","MFRP","MFSD8","MKKS","MKS1","MMACHC","MORC2","MSTO1","MT-ATP6","MT-CO1","MT-CO2","MT-CO3","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND5","MT-ND6","MT-TF","MT-TH","MT-TK","MT-TL1","MT-TN","MT-TQ","MT-TS1","MT-TS2","MT-TV","MT-TW","NCAPG2","NDUFAF1","NDUFB11","NGLY1","NMNAT1","NOTCH2NLC","NPHP1","NR2E3","NRL","PANK2","PCARE","PDE6A","PDE6B","PDE6G","PEX1","PEX2","PEX5","PISD","PNPLA6","POC1B","POLR3A","POMGNT1","POMT1","POMT2","PRCD","PRDX1","PROM1","PRPF31","PRPF6","PRPF8","PRPH2","PUS1","RAX2","RBP3","RDH11","RDH12","RDH5","REEP6","RHO","RLBP1","RNASEH1","RNU4ATAC","ROM1","RP1","RP1L1","RP2","RP9","RPE65","RPGR","RRM2B","SAG","SCAPER","SCLT1","SDCCAG8","SDHA","SDHAF1","SDHB","SDHD","SEMA4A","SLC24A1","SLC7A14","SNRNP200","SPATA7","SURF1","TIMP3","TRIM32","TRIM37","TTC8","TULP1","UNC119","USH2A","VPS13B","WDPCP","WFS1","ZFYVE26","ZNF408","ZNF513"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BLEPHAROPHIMOSIS":{"collection":"C5:HPO","systematicName":"M34813","pmid":"","exactSource":"HP:0000581","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000581","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BLEPHAROPHIMOSIS","geneSymbols":["ALG14","ALX4","ANK1","ATP6V1A","ATP6V1E1","ATR","BAZ1B","BCL7B","BCOR","BCR","BRCA1","BRPF1","BUD23","CDK13","CEP152","CEP57","CHN1","CLIP2","COL25A1","COLEC10","COLEC11","CREBBP","CRKL","CUL4B","DACT1","DCHS1","DDR2","DGCR2","DGCR6","DGCR8","DLK1","DNAJC30","DNMT3A","EIF4H","ELN","EP300","ERCC1","ERCC6","ESS2","FANCD2","FAT4","FKBP6","FOXG1","FOXL2","FOXP1","GATAD2B","GJA1","GPC6","GPKOW","GTF2I","GTF2IRD1","GTF2IRD2","HDAC4","HHAT","HNRNPH1","HSPG2","HUWE1","IRX5","KANSL1","KAT6B","KCNJ2","KCTD1","KMT2A","KRAS","LIG4","LIMK1","MAFB","MAPK1","MAPRE2","MASP1","MCTP2","MECP2","MED12","MEG3","METTL27","MLXIPL","MOGS","MUSK","MYCN","MYH3","MYL11","NCF1","NFIB","NSUN2","ODC1","ORC1","PAX3","PHF6","PIEZO2","PRIM1","RAB18","RBMX","RECQL4","RERE","RFC2","RHOA","RIPK4","RTL1","SALL1","SALL4","SCARF2","SEPTIN9","SETD5","SF3B2","SLC2A10","SLX4","SMAD4","SMARCA2","SMO","SMOC1","SOX9","STAC3","STRA6","STX1A","TBC1D2B","TBL1XR1","TBL2","TBX1","TBX15","TLK2","TMEM270","TP63","TUBB","TXNL4A","UBE3B","UGDH","VPS37D","WDR35","ZFHX4","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_UPSLANTED_PALPEBRAL_FISSURE":{"collection":"C5:HPO","systematicName":"M34814","pmid":"","exactSource":"HP:0000582","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000582","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UPSLANTED_PALPEBRAL_FISSURE","geneSymbols":["ABL1","ADAMTS3","ADAMTSL2","ADARB1","ADAT3","ADNP","AGO2","AGR2","AHDC1","ALG2","ALX4","ANK1","ANKLE2","ANKRD11","ANKRD17","AP1S1","AP3B1","ARID1B","ARVCF","ASPM","ASXL1","ASXL3","ATAD3A","ATRX","AUTS2","B3GLCT","BCL11B","BICRA","BLTP1","BPTF","BRCA1","BRCA2","BRIP1","BUB1B","C2CD3","CACNA1G","CCDC22","CCDC32","CD96","CDC42","CDC42BPB","CDK13","CDK5RAP2","CDK6","CENPE","CENPJ","CEP135","CEP152","CEP63","CERT1","CHAMP1","CHD4","CHD5","CIT","CLTC","CNOT2","CNOT3","COG1","COG7","COL3A1","COMT","COPB1","COPB2","CREBBP","CTU2","DDB1","DEAF1","DHCR7","DLG3","DLX4","DONSON","DPH5","DPYD","DVL1","DVL3","DYNC1I2","DYRK1A","EBF3","EBP","EFTUD2","EHMT1","EIF2AK3","EP300","ERCC4","EXOC2","EXOSC2","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FBXO31","FGFR1","FGFR2","FIG4","FLII","FLNA","FZD2","GAD1","GATA1","GATA4","GATAD2B","GJA1","GJA5","GJA8","GNB2","GP1BB","H3-3A","H4C11","H4C3","H4C5","HBB","HDAC4","HECTD4","HERC1","HERC2","HHAT","HIRA","HIVEP2","HNRNPR","HNRNPU","HS2ST1","HSD17B4","HUWE1","IFT140","IFT57","IGF1R","IL1RAPL1","IQSEC2","JAG1","JARID2","JMJD1C","KANSL1","KAT8","KDM4B","KDM5C","KIF11","KIF14","KNL1","LIG4","LMBRD2","LMNB1","MAD2L2","MAF","MAGEL2","MAP3K7","MAPK8IP3","MAPRE2","MCM7","MCPH1","MCTP2","MECP2","MED13L","MEF2C","MEGF8","MEIS2","METTL5","MFSD2A","MINPP1","MKRN3","MRPS2","MTSS2","MYCN","NARS1","NBN","NCAPD3","NDUFS4","NFIA","NFIX","NOG","NONO","NPAP1","NR2F1","NRCAM","NSD2","NSDHL","NUP37","NXN","OCRL","PAK3","PALB2","PARS2","PCDHGC4","PCNT","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PEX7","PGAP1","PGAP2","PGAP3","PHC1","PHF8","PHIP","PIGA","PIGB","PIGL","PIGN","PIGO","PIGT","PIGV","PIGW","PIGY","PLPBP","PMM2","POGZ","POLA1","POLR3A","POLR3GL","PPP1CB","PPP1R12A","PPP1R21","PQBP1","PRDM13","PRKAR1B","PTCH1","PUF60","PURA","PWAR1","PWRN1","PYCR2","QRICH1","RAB11B","RAD21","RAD51","RAD51C","RAI1","RDH11","RERE","RFWD3","RFX7","RIPK4","ROR2","RREB1","RTTN","SARS1","SASS6","SCNM1","SEC24C","SEPTIN9","SETD2","SETD5","SIM1","SLC30A9","SLX4","SMC1A","SMS","SNORD115-1","SNORD116-1","SNRPN","SPECC1L","SPEN","SPTBN1","STEEP1","STIL","TAF13","TBCD","TBCK","TBX1","TBX6","TCF4","TELO2","TFAP2A","TGDS","THOC6","TLK2","TMCO1","TOE1","TOR1A","TRAPPC10","TRAPPC14","TRIO","TRIP12","TRPM3","TRRAP","TTC26","TUBB","TUBGCP2","UBE2A","UBE2T","UBE3B","UBR1","UFD1","UQCC2","USP9X","VAC14","WARS1","WASF1","WDR35","WDR62","WNT5A","XRCC2","XRCC4","ZC4H2","ZIC2","ZMIZ1","ZMYND11","ZNF148","ZNF292","ZNF526"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BAND_KERATOPATHY":{"collection":"C5:HPO","systematicName":"M34815","pmid":"","exactSource":"HP:0000585","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000585","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BAND_KERATOPATHY","geneSymbols":["ANKRD55","CD247","COL18A1","GNAS","IL2RA","IL2RB","JAG1","NOD2","OVOL2","PTPN2","PTPN22","SLC4A4","STAT4","VSX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_OPTIC_NERVE_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M34817","pmid":"","exactSource":"HP:0000587","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000587","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_OPTIC_NERVE_MORPHOLOGY","geneSymbols":["AAAS","AARS1","ABCA4","ABCC6","ABCG5","ABCG8","ABHD12","ACADS","ACER3","ACO2","ACOX1","ACTB","ACTG1","ACTL6B","ADA2","ADAM22","ADAR","AFF4","AFG3L2","AGBL5","AGTPBP1","AGXT","AHI1","AHR","AIFM1","AIPL1","AKT1","AKT3","ALDH1A2","ALDH1A3","ALG13","ALG3","ALG8","ALMS1","AMPD2","ANKRD11","ANTXR1","AP1S2","AP3B2","AP4M1","APC","APOB","ARHGEF18","ARHGEF2","ARL13B","ARL2BP","ARL3","ARL6","ARNT2","ARSA","ARSL","ARV1","ARVCF","ARX","ASB10","ASNS","ASPA","ASXL1","ATAD3A","ATG7","ATIC","ATN1","ATP1A2","ATP1A3","ATP5F1A","ATP5F1D","ATP5F1E","ATP5MK","ATP6V1A","ATP6V1B2","ATPAF1","ATPAF2","ATRX","ATXN1","ATXN7","AUH","B3GALNT2","B3GALT6","B3GLCT","B4GAT1","B9D1","B9D2","BAP1","BBS1","BBS2","BCAP31","BCOR","BEST1","BLOC1S3","BOLA3","BRAF","BRAT1","BTD","C19orf12","C1QTNF5","C2CD3","C4A","CA2","CA4","CACNA1A","CACNA1B","CACNA1C","CACNA1F","CACNA2D1","CASK","CASR","CASZ1","CBS","CC2D2A","CCDC22","CCDC88A","CCND1","CCR1","CDC42","CDC42BPB","CDH11","CDH23","CDHR1","CDK19","CDON","CELF2","CENPF","CEP290","CEP85L","CERKL","CFAP410","CFAP418","CHD7","CHN1","CHSY1","CISD2","CKAP2L","CLCC1","CLCN2","CLCN3","CLCN7","CLDN11","CLN3","CLN8","CLP1","CLRN1","CLTC","CNGA1","CNGA3","CNGB1","CNKSR2","CNNM4","CNOT3","COA8","COG6","COL18A1","COL25A1","COL4A1","COMT","COX7B","CPAMD8","CPLX1","CPSF3","CRB1","CRPPA","CRX","CSF1R","CSPP1","CTBP1","CTC1","CTLA4","CTNNA2","CTNNB1","CYFIP2","CYP1B1","CYP27A1","CYP7B1","DAG1","DALRD3","DARS1","DARS2","DDB2","DDHD2","DDX11","DDX59","DENND5A","DGUOK","DHCR7","DHDDS","DHX38","DIAPH1","DKC1","DNAJC19","DNAJC30","DNM1","DNM1L","DNMT1","DNMT3A","DOCK6","DPAGT1","DPM1","DPM2","DPYD","DPYSL5","DYRK1A","EEF1A2","EFEMP1","EIF2B1","EIF2B2","EIF2B4","ELOVL1","ELP1","ELP4","EMC1","EPCAM","EPG5","EPRS1","ERAP1","ERCC1","ERCC2","ERCC3","ERCC4","ERCC5","ERCC6","ERCC8","ERF","ESPN","EXOC2","EXOC8","EXOSC3","EXOSC5","EXOSC8","EXOSC9","EYS","FA2H","FAM111A","FAM161A","FANCB","FANCI","FAS","FBXO28","FCSK","FDFT1","FDX2","FDXR","FGF12","FGF13","FGFR1","FGFR2","FGFR3","FH","FKRP","FKTN","FLRT1","FLVCR1","FOXA2","FOXRED1","FRMPD4","FSCN2","FXN","FZD4","FZR1","GABBR2","GABRA2","GABRA5","GABRB2","GABRD","GABRG2","GALC","GATA2","GATA3","GATAD2B","GBA1","GDF3","GDF6","GEMIN4","GFM2","GGCX","GJA1","GJC2","GLA","GLB1","GLI2","GLRX5","GLYCTK","GMPPA","GMPPB","GNA11","GNAQ","GNAT1","GNPAT","GP1BA","GP1BB","GPAA1","GPR161","GRIA4","GRID2","GRIN2D","GRN","GTPBP2","GUCA1B","GUCY2D","HARS1","HCN1","HESX1","HGSNAT","HHAT","HIKESHI","HIRA","HK1","HLA-A","HLA-B","HLA-DRB1","HMX1","HNRNPH1","HNRNPK","HNRNPU","HSD17B10","HSPG2","HUWE1","IBA57","IDH3A","IDH3B","IDS","IER3IP1","IFNGR1","IFT140","IFT172","IFT43","IFT74","IFT88","IGBP1","IKBKG","IL10","IL11RA","IL12A","IL12A-AS1","IL23R","IMPDH1","IMPG1","IMPG2","INPP5E","INPP5K","INTS8","IQCB1","ISCA2","ITM2B","JAM3","JMJD1C","KANSL1","KAT6A","KCNA2","KCNAB2","KCNB1","KCNC3","KCNJ13","KCNK4","KCTD7","KIAA0586","KIAA1549","KIDINS220","KIF11","KIF14","KIF1A","KIF21A","KIF5A","KIF7","KIZ","KLC2","KLHL7","KLRC4","KMT2D","KNSTRN","KRAS","L2HGDH","LAMB1","LARGE1","LCA5","LDLR","LDLRAP1","LETM1","LHX3","LHX4","LRAT","LRP4","LRP5","LUZP1","LYRM7","MACF1","MAFB","MAG","MAK","MAN2B1","MAP2K1","MAP2K2","MAPKAPK5","MBTPS2","MC1R","MCOLN1","MECR","MED12","MEF2C","MEFV","MERTK","MFF","MFN2","MFRP","MFSD8","MGP","MICOS13","MICU1","MID2","MINPP1","MKS1","MMACHC","MMP14","MMP19","MMP2","MMP23B","MMUT","MOGS","MPDU1","MPDZ","MPLKIP","MRPS34","MSTO1","MT-ATP6","MT-ATP8","MT-CO1","MT-CO2","MT-CO3","MT-CYB","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND4L","MT-ND5","MT-ND6","MT-RNR1","MT-TF","MT-TH","MT-TK","MT-TL1","MT-TN","MT-TP","MT-TQ","MT-TS1","MT-TS2","MT-TV","MT-TW","MTFMT","MTHFR","MTO1","MTOR","MTPAP","MTRFR","MTSS2","MVK","MYO5A","MYOC","NAA10","NADK2","NAGA","NALCN","NARS2","NBAS","NDE1","NDP","NDUFA1","NDUFA11","NDUFA13","NDUFA6","NDUFAF1","NDUFAF2","NDUFAF3","NDUFAF4","NDUFAF5","NDUFAF8","NDUFB10","NDUFB11","NDUFB3","NDUFB9","NDUFC2","NDUFS1","NDUFS2","NDUFS3","NDUFS4","NDUFS6","NDUFS7","NDUFS8","NDUFV1","NDUFV2","NECAP1","NEDD4L","NEFL","NEK2","NELFA","NEU1","NF2","NFIX","NGLY1","NIPBL","NLRP3","NMNAT1","NOD2","NOTCH2NLC","NOTCH3","NR2E3","NR2F1","NR3C1","NRCAM","NRL","NSD2","NT5C2","NTRK2","NUBPL","NUP54","NUP62","NUS1","OCA2","OFD1","OGDHL","OPA1","OPA3","OSTM1","OTUD5","OTX2","P4HA2","P4HTM","PACS2","PANK2","PARS2","PAX2","PAX6","PCARE","PCK1","PCLO","PCSK9","PCYT1A","PCYT2","PDE6A","PDE6B","PDE6G","PDGFB","PDHX","PDPN","PDSS1","PDXK","PERCC1","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PHOX2A","PI4KA","PIEZO2","PIGB","PIGG","PIGU","PIK3CA","PIK3CD","PISD","PLA2G6","PLAA","PLEKHM1","PLK4","PLP1","PLXNA1","PMPCB","PNPLA6","POC1B","POGZ","POLG","POLG2","POLR3A","POLR3B","POLR3K","POMGNT1","POMGNT2","POMK","POMT1","POMT2","PORCN","POU1F1","POU3F4","PPP1CB","PPP1R21","PPP2R1A","PPP3CA","PPT1","PRCD","PRDM16","PRICKLE3","PRKAR1A","PRKCZ","PRMT7","PROKR2","PROM1","PROP1","PRORP","PRPF3","PRPF31","PRPF4","PRPF6","PRPF8","PRPH2","PRPS1","PRUNE1","PSAP","PSMD12","PTCD3","PTEN","PTF1A","PTPN22","PTPN23","PUF60","RAB11B","RAB18","RAB23","RAB3GAP1","RAB3GAP2","RAX2","RBL2","RBM10","RBP3","RBP4","RD3","RDH12","RECQL4","REEP6","RERE","RFC1","RFX7","RGR","RHO","RHOA","RIMS2","RLBP1","RNF113A","RNF135","RNF170","RNF216","RNU7-1","ROBO1","ROM1","RP1","RP1L1","RP2","RP9","RPE65","RPGR","RPGRIP1","RPGRIP1L","RPIA","RPS6KA3","RREB1","RRM2B","RSPO2","RTN4IP1","RTTN","RXYLT1","SAG","SALL2","SALL4","SARDH","SBF2","SCAPER","SCN3A","SCN8A","SCYL1","SCYL2","SDHA","SDHD","SEC23A","SEC24C","SEC31A","SELENOI","SEMA3E","SEMA4A","SERAC1","SETD2","SH3BP2","SH3TC2","SIL1","SIX6","SKI","SLC13A5","SLC19A2","SLC1A2","SLC25A19","SLC25A46","SLC29A3","SLC30A9","SLC38A3","SLC38A8","SLC39A14","SLC44A1","SLC45A2","SLC4A2","SLC52A2","SLC6A9","SLC7A14","SMARCB1","SMARCE1","SMG8","SMO","SMOC1","SNAP29","SNRNP200","SNX10","SON","SOST","SOX2","SOX3","SOX5","SP7","SPATA7","SPEN","SPG7","SPINT2","SPOP","SRD5A3","SSBP1","ST3GAL5","STAG2","STAMBP","STAT4","STT3B","STX3","SUFU","SUMF1","SURF1","SYNE1","SYNGAP1","SYNJ1","SZT2","TACO1","TANGO2","TASP1","TBC1D20","TBC1D24","TBC1D2B","TBC1D7","TBCD","TBCE","TBX1","TCIRG1","TCTN1","TCTN2","TCTN3","TEK","TERT","TFG","TGFB1","THG1L","TIMM50","TIMM8A","TIMMDC1","TK2","TLR4","TLR7","TMEM106B","TMEM107","TMEM126A","TMEM126B","TMEM216","TMEM222","TMEM231","TMEM237","TMEM53","TMEM63A","TMEM67","TMEM98","TMTC3","TNFRSF11A","TNFRSF11B","TNFSF11","TOE1","TOPORS","TOR1A","TP53","TPI1","TRAF7","TRAK1","TRAPPC11","TRAPPC12","TRIT1","TRNT1","TRRAP","TSC1","TSC2","TSEN54","TSFM","TSPAN12","TTC8","TUB","TUBA1A","TUBA8","TUBB2B","TUBB3","TUBB4A","TUBB4B","TUBGCP2","TUBGCP4","TUBGCP6","TULP1","TWIST1","TWNK","TXN2","TXNDC15","TYR","TYRP1","UBA5","UBAC2","UBE3B","UBE4B","UCHL1","UFD1","UQCRFS1","USH2A","USP45","USP48","USP8","VCAN","VHL","VPS11","VPS13B","VPS33A","VPS35L","VPS41","VPS53","VRK1","VSX1","WARS2","WASHC5","WDR11","WDR4","WDR45","WDR73","WFS1","WNT3","WT1","WWOX","XPA","XPC","XYLT1","XYLT2","YAP1","YME1L1","YWHAG","ZEB2","ZIC1","ZNF408","ZNF513","ZNF592","ZNHIT3","ZPR1","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_OPTIC_DISC_COLOBOMA":{"collection":"C5:HPO","systematicName":"M34818","pmid":"","exactSource":"HP:0000588","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000588","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OPTIC_DISC_COLOBOMA","geneSymbols":["ACTB","ACTG1","BCOR","C2CD3","CC2D2A","DDX11","DDX59","EPCAM","HHAT","IGBP1","INPP5E","KMT2D","NAA10","NIPBL","PAX2","PAX6","PERCC1","PRMT7","RPGRIP1L","SALL2","SALL4","SMO","SPINT2","TMEM216","TMEM67","TRRAP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_COLOBOMA":{"collection":"C5:HPO","systematicName":"M34819","pmid":"","exactSource":"HP:0000589","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000589","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_COLOBOMA","geneSymbols":["AAAS","ABCB6","ACTB","ACTG1","ADNP","AHI1","AKT1","ALDH1A3","ALG2","ALG3","ALX3","ANK1","ARL13B","ARL3","ARMC9","ASXL1","ATOH7","ATP6V1A","B3GALNT2","B3GLCT","B4GAT1","B9D1","B9D2","BCOR","BMP4","C12orf57","C2CD3","CAPN15","CASK","CBY1","CC2D2A","CCDC22","CDON","CENPF","CEP104","CEP120","CEP290","CEP41","CHD7","CHN1","CLDN19","COL4A1","COX7B","CPLANE1","CPLX1","CRB1","CREBBP","CRPPA","CRYAA","CRYBA4","CRYBB1","CRYBB2","CRYGC","CRYGD","CSPP1","CTBP1","DACT1","DAG1","DDX11","DDX59","DHCR7","DHX38","DISP1","DLL1","DPYD","DPYSL5","DYRK1A","EIF3F","ELP4","EP300","EPCAM","ERF","ESCO2","FBXW11","FGF3","FGF8","FGFR1","FGFR2","FGFRL1","FIBP","FKRP","FKTN","FLI1","FLNA","FOXE3","FOXH1","GAS1","GDF3","GDF6","GJA8","GLI2","GMPPA","GMPPB","GNAQ","GZF1","HCCS","HHAT","HMGB3","HMX1","HNRNPK","HRAS","HYLS1","IFT74","IGBP1","INPP5E","INTS1","KATNIP","KCTD1","KDM6A","KIAA0586","KIAA0753","KIF7","KIFBP","KMT2D","KRAS","LARGE1","LCA5","LETM1","LRAT","LRP2","MAB21L2","MAF","MAFB","MAN2C1","MBTPS2","MED12L","MED13L","MIR204","MITF","MKS1","MMACHC","MMP14","MMP2","MPDZ","NAA10","NDUFB11","NELFA","NIPBL","NMNAT1","NODAL","NOTCH2","NOTCH3","NPHP1","NRAS","NSD2","OFD1","OTX2","PACS1","PAX2","PAX6","PCYT1A","PDE6D","PERCC1","PIBF1","PIGG","PIGL","PLVAP","PNPLA6","POGZ","POLR1B","POLR1C","POLR1D","POMGNT1","POMGNT2","POMK","POMT1","POMT2","PORCN","PQBP1","PRMT7","PRPS1","PRR12","PTCH1","PTCH2","PTEN","PUF60","PXDN","RAB18","RAB3GAP1","RAB3GAP2","RB1","RBP4","RERE","ROR1","RPE65","RPGRIP1L","RSPO2","RXYLT1","SALL1","SALL2","SALL4","SATB2","SEMA3E","SHH","SIN3A","SIX3","SIX6","SMCHD1","SMO","SOX2","SPATA7","SPECC1L","SPINT2","SPTBN1","SRD5A3","SUFU","TBC1D20","TBC1D23","TBR1","TBX22","TCEAL1","TCOF1","TCTN1","TCTN2","TCTN3","TDGF1","TENM3","TFAP2A","TGIF1","TMEM138","TMEM216","TMEM218","TMEM231","TMEM237","TMEM67","TOGARAM1","TRAPPC11","TRIM37","TRRAP","TTC26","VPS13B","VPS35L","VSX2","WAC","WASHC5","WDR37","WNT3","YAP1","ZEB2","ZIC2","ZMIZ1","ZNF423","ZNF668"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PROGRESSIVE_EXTERNAL_OPHTHALMOPLEGIA":{"collection":"C5:HPO","systematicName":"M34820","pmid":"","exactSource":"HP:0000590","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000590","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROGRESSIVE_EXTERNAL_OPHTHALMOPLEGIA","geneSymbols":["APTX","ATXN3","C1QBP","DGUOK","DNA2","GIPC1","LRP12","MGME1","MT-ATP8","MT-CO1","MT-CO2","MT-CO3","MT-ND1","MT-ND4","MT-ND5","MT-ND6","MT-TF","MT-TH","MT-TK","MT-TL1","MT-TL2","MT-TN","MT-TQ","MT-TS1","MT-TS2","MT-TT","MT-TW","NOTCH2NLC","OPA1","POLG","POLG2","POLRMT","RILPL1","RNASEH1","RRM2B","SLC25A4","TK2","TOP3A","TWNK","TYMP","VARS2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_SCLERA_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M34821","pmid":"","exactSource":"HP:0000591","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000591","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SCLERA_MORPHOLOGY","geneSymbols":["ABCC6","ADAMTS2","AKT1","ALPL","ARL2","ATP6V0A2","B3GALT6","B3GAT3","B4GALT7","BCL11A","BEST1","BMP1","C1R","CA2","CANT1","CFAP410","CHST14","CHST3","CHSY1","CLCNKB","COG4","COL12A1","COL1A1","COL1A2","COL3A1","COL5A1","CREB3L1","CRTAP","CSGALNACT1","CTSK","CYB5A","CYB5R3","DACT1","DNASE1L3","DPAGT1","DSE","DVL1","DVL3","ENPP1","ESCO2","EXOSC1","FBN1","FGFR1","FKBP10","FKBP14","FZD2","GATA1","GDF11","GHR","GNB2","HADHA","HECTD4","HGD","IDS","IFITM5","IGF2","IKBKG","IMPG2","INPPL1","IPO8","KDM1A","KDM6A","KIFBP","KMT2A","KMT2D","KRAS","LRP5","MAP3K7","MBTPS2","MC1R","MED27","MEGF8","MESD","MFRP","MSX2","MVK","NFIX","NLRP3","NXN","OCA2","P4HB","PAX1","PAX2","PGM1","PIGT","PLOD1","POLR3A","POLRMT","PPIB","PPP1R15B","PPP1R21","PRDM5","PRKAR1A","PRKG2","PRMT7","PRSS56","PSMB8","PTEN","PUS3","PYCR1","RMRP","ROR2","RPS23","RYR3","SALL1","SEC24D","SERPINH1","SF3B2","SLC26A2","SLC29A3","SLC39A13","SON","SP7","TELO2","TENT5A","TGFB3","TGFBR1","TGFBR2","TMEM163","TMEM38B","TRMT10A","TRMT5","UNC45A","UROD","UROS","VPS4A","WASF1","WNT1","WNT5A","WWOX","XYLT1","XYLT2","ZNF469"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BLUE_SCLERAE":{"collection":"C5:HPO","systematicName":"M34822","pmid":"","exactSource":"HP:0000592","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000592","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BLUE_SCLERAE","geneSymbols":["ABCC6","ADAMTS2","ALPL","ATP6V0A2","B3GALT6","B3GAT3","B4GALT7","BCL11A","BMP1","C1R","CA2","CANT1","CHST14","CHST3","CHSY1","COG4","COL12A1","COL1A1","COL1A2","COL3A1","COL5A1","CREB3L1","CRTAP","CSGALNACT1","CTSK","CYB5A","CYB5R3","DSE","DVL1","DVL3","ENPP1","ESCO2","EXOSC1","FBN1","FKBP10","FKBP14","FZD2","GDF11","GHR","GNB2","HECTD4","HGD","IFITM5","IGF2","IKBKG","INPPL1","IPO8","KDM1A","KDM6A","KIFBP","KMT2A","KMT2D","LRP5","MAP3K7","MBTPS2","MED27","MEGF8","MESD","MSX2","MVK","NFIX","NXN","P4HB","PAX1","PGM1","PLOD1","POLR3A","POLRMT","PPIB","PPP1R15B","PPP1R21","PRDM5","PRKG2","PRMT7","PUS3","PYCR1","RMRP","ROR2","RPS23","RYR3","SEC24D","SERPINH1","SLC26A2","SLC39A13","SON","TELO2","TENT5A","TGFB3","TGFBR1","TGFBR2","TMEM163","TMEM38B","TRMT10A","TRMT5","UNC45A","WASF1","WNT1","WNT5A","WWOX","XYLT1","ZNF469"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_ANTERIOR_CHAMBER_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M34823","pmid":"","exactSource":"HP:0000593","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000593","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ANTERIOR_CHAMBER_MORPHOLOGY","geneSymbols":["ADAMTS10","ADAMTS17","ANKRD55","ANTXR1","ASPH","ATOH7","B3GLCT","CD247","CHRDL1","CHST14","COL18A1","COL8A2","COLEC10","COLEC11","CYP1B1","EFEMP1","ELMO2","FBN1","FOXC1","FOXE3","FZD4","GRHL2","HMX1","IL2RA","IL2RB","JAG1","LARGE1","LCA5","LOXL1","LRAT","LRP5","LTBP2","MASP1","MIR204","MITF","MYOC","NDP","OVOL2","PAX6","PGAP2","PGAP3","PIGL","PIGO","PIGV","PIGW","PIGY","PIK3R1","PITX2","PTPN2","PTPN22","PXDN","RAB18","RPE65","SPATA7","SRCAP","STAT4","TSPAN12","VSX1","ZEB1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SHALLOW_ANTERIOR_CHAMBER":{"collection":"C5:HPO","systematicName":"M34824","pmid":"","exactSource":"HP:0000594","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000594","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHALLOW_ANTERIOR_CHAMBER","geneSymbols":["ADAMTS10","ADAMTS17","ANTXR1","ASPH","ATOH7","FBN1","FZD4","LTBP2","NDP","PGAP2","PGAP3","PIGL","PIGO","PIGV","PIGW","PIGY","RAB18","TSPAN12"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_OPHTHALMOPARESIS":{"collection":"C5:HPO","systematicName":"M34825","pmid":"","exactSource":"HP:0000597","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000597","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OPHTHALMOPARESIS","geneSymbols":["ABCA4","ACADS","ACTA1","ACTN2","ADA2","ADPRS","AFG3L2","AGBL5","AGRN","AHI1","AHR","AIP","AK9","AKT1","AKT3","ALDH4A1","ANGPTL6","APTX","ARHGEF18","ARL2BP","ARL3","ARL6","ATG7","ATN1","ATP5F1A","ATP5F1D","ATP5F1E","ATP5MK","ATPAF1","ATPAF2","ATXN1","ATXN2","ATXN3","ATXN7","BAP1","BBS1","BBS2","BEST1","BIN1","C1QBP","CA4","CACNA1S","CC2D2A","CDH23","CDHR1","CDKL5","CERKL","CFAP418","CHAT","CHN1","CHRNA1","CHRNB1","CHRND","CHRNE","CISD2","CLRN1","CNGA1","CNGB1","COL13A1","COL25A1","COL3A1","COLQ","COX16","CRB1","CRX","DGUOK","DHDDS","DHX37","DHX38","DNA2","DNM1L","DNM2","DOK7","EARS2","ENG","EYS","FA2H","FAM161A","FRG1","FSCN2","GABBR2","GABRA3","GBA1","GFPT1","GIPC1","GRIN1","GUCA1B","HACD1","HGSNAT","HLA-B","HLA-DRB1","HPDL","HRAS","IDH3A","IDH3B","IFT140","IFT172","IFT88","IMPDH1","IMPG1","IMPG2","ISCU","ITGA7","KCND3","KCNJ18","KIAA1549","KIF21A","KIZ","KLHL40","KLHL41","KLHL7","KRAS","LAMA2","LAMB2","LIG3","LMOD3","LRAT","LRP12","LRP4","LYRM7","MAFB","MAK","MAP3K20","MAPT","MCM3AP","MECP2","MEN1","MERTK","MFF","MGME1","MICU1","MT-ATP6","MT-ATP8","MT-CO1","MT-CO2","MT-CO3","MT-CYB","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND5","MT-ND6","MT-TC","MT-TE","MT-TF","MT-TH","MT-TK","MT-TL1","MT-TL2","MT-TN","MT-TQ","MT-TS1","MT-TS2","MT-TT","MT-TV","MT-TW","MTM1","MTMR14","MTOR","MTRFR","MTTP","MUSK","MYF5","MYF6","MYH2","MYL2","MYMK","MYO9A","NADK2","NAXD","NDUFAF2","NDUFS1","NDUFV1","NEB","NEK2","NF2","NOTCH2NLC","NR2E3","NRAS","NRL","NSUN3","NTNG1","NUTM2B-AS1","OFD1","OPA1","P4HA2","PABPN1","PCARE","PCYT1A","PDE6A","PDE6B","PDE6G","PDGFB","PHOX2A","PIEZO2","PIK3CA","PLEC","PLXND1","PMPCA","POLG","POLG2","POLRMT","POMGNT1","PRCD","PROM1","PRPF3","PRPF31","PRPF4","PRPF6","PRPF8","PRPH2","PTPN22","RAPSN","RBP3","RDH12","REEP6","REV3L","RGR","RHO","RILPL1","RLBP1","RNASEH1","ROBO3","ROM1","RP1","RP1L1","RP2","RP9","RPE65","RPGR","RRM2B","RYR1","SAG","SALL4","SBF1","SCAPER","SCN4A","SDHA","SDHAF1","SDHB","SDHD","SELENON","SEMA4A","SLC18A3","SLC19A3","SLC25A1","SLC25A4","SLC52A3","SLC5A7","SLC7A14","SLC9A6","SMARCB1","SMARCE1","SMC1A","SMO","SNAP25","SNRNP200","SPATA7","SPEG","STIM1","STUB1","SUCLA2","SUFU","SURF1","SYNE1","SYT2","TCIRG1","TERT","TGFBR3","TGM6","THSD1","TK2","TMEM67","TOP3A","TOPORS","TPK1","TPM2","TPM3","TRAF7","TRPV4","TSPYL1","TTC8","TTN","TUB","TUBA1A","TUBB2B","TUBB3","TULP1","TWNK","TYMP","UCHL1","UGT1A1","USH2A","VAMP1","VARS2","WFS1","ZFHX4","ZNF408","ZNF513"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_FRONTAL_HAIRLINE":{"collection":"C5:HPO","systematicName":"M34826","pmid":"","exactSource":"HP:0000599","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000599","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_FRONTAL_HAIRLINE","geneSymbols":["ABCC9","ADA2","ADARB1","ADNP","AGPAT2","AIFM1","ALG11","ALX1","ALX3","ANKRD11","ANKRD17","APC2","ARID1A","ARID1B","ARID2","ARX","ASH1L","ASXL1","ATP6V1B2","BICRA","BRCA1","BRD4","BSCL2","CAV1","CAVIN1","CCNK","CDC42BPB","CDH1","CDK5","CIT","CLCN3","COG5","COG7","CPLX1","CPOX","CREBBP","CTBP1","CWC27","DEAF1","DHX30","DLX4","DOCK6","DOCK7","DPF2","DPH2","DPM2","EFNB1","EMC1","EP300","ERMARD","FAT4","FGD1","FGFR2","FGFR3","FKRP","FLNA","FOS","FRAS1","FREM2","FRMD4A","GATA1","GDF11","GMPPA","GNB2","H1-4","H3-3A","H4C5","HDAC8","HEATR3","HS2ST1","HSPG2","HYOU1","IFIH1","IGF1","INSR","JARID2","KCNH1","KCNJ8","KCNN3","KDM1A","KREMEN1","LETM1","LIG4","LMX1B","LRP2","LRPPRC","MAB21L1","MAN2B1","MAP3K7","MAPRE2","MED12","MED13L","MEGF8","MEIS2","MID1","NANS","NBN","NELFA","NEPRO","NIPBL","NOTCH2","NOVA2","NSD1","NSD2","NSUN2","NUDT2","PACS1","PEPD","PEX1","PEX6","PGAP1","PIGG","PIGK","PIK3C2A","POLR1B","POLR1C","POLR1D","PPARG","PPP1CB","PPP1R15B","PRDM13","PRKD1","RAB18","RAB3GAP2","RAD21","RALGAPA1","RBL2","RERE","RHOBTB2","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS7","SATB1","SETD2","SETD5","SH2B1","SIN3A","SLC12A6","SLC25A24","SLC35C1","SLC9A7","SMARCA2","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SMC1A","SMC3","SMO","SMPD4","SOS1","SOX11","SOX4","SPATA5L1","SPECC1L","SPEN","SPOP","STAG2","STT3A","SVBP","SYT1","TAF6","TBC1D20","TBC1D24","TBL1XR1","TBX15","TBX2","TCF12","TCOF1","TECPR2","THOC6","TMCO1","TRIO","TRMT10A","TRPM3","TSR2","TTC5","TWIST1","TWIST2","UGP2","VPS13B","VPS33A","WNT4","XRCC4","ZC4H2","ZIC1","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_PHARYNX":{"collection":"C5:HPO","systematicName":"M34827","pmid":"","exactSource":"HP:0000600","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000600","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_PHARYNX","geneSymbols":["ACP5","ADA","ADA2","ADNP","AICDA","ALG12","ALMS1","ARHGEF1","ARID1A","ARID1B","ARID2","ARSB","ARVCF","ASAH1","ATM","BLM","BTK","C4B","CARMIL2","CCDC65","CD19","CD4","CD79A","CD79B","CD81","CFAP298","CFAP74","CFI","CIITA","CLPB","COG4","COL5A1","COL5A2","COMT","CORO1A","CR2","CREBBP","CTC1","CTLA4","CXCR4","DCLRE1C","DKC1","DNAAF1","DNAAF11","DNAAF2","DNAAF4","DNAAF5","DNAAF6","DNAH5","DNAI1","DNAI2","DNAJB13","DOCK8","DPF2","DPP9","DYM","EGFR","ELANE","EP300","F12","FCGR3A","FCHO1","FOXJ1","FOXN1","FOXP1","G6PC3","GALNS","GAS2L2","GAS8","GFI1","GIPC1","GJA1","GLB1","GLI3","GNPTAB","GNS","GP1BB","GUSB","HCK","HGSNAT","HIRA","HLA-B","HLA-DPB1","HLA-DRB1","HPS6","HSPG2","HYDIN","HYOU1","ICOS","IDS","IFIH1","IGHG2","IGHM","IGKC","IKBKB","IKBKG","IL10RB","IL17RA","IL21R","IL2RG","IL6R","IL6ST","IL7R","IRF2BP2","IVNS1ABP","JAK3","JMJD1C","KATNIP","KDM5C","KRT5","LCK","LEP","LEPR","LRBA","LRP12","MAGT1","MATR3","MBTPS2","MCIDAS","MDFIC","MDM4","MGAT2","MGP","MID1","MS4A1","MST1R","MYSM1","NAGLU","NBN","NCF4","NEK10","NFIX","NFKB1","NFKB2","NFKBIA","NHP2","NLRP12","NME5","NME8","NOP10","NOTCH2NLC","NPM1","ODAD1","ODAD2","OFD1","P4HA2","PABPN1","PARN","PDE11A","PHIP","PIK3CD","PIK3R1","PLG","PLP1","PLVAP","PNP","POLE","PRKAR1A","PRKCD","PRPS1","PSMB8","PTEN","PTPN22","RAC2","RAG1","RAG2","RAI1","RELB","RFX5","RFX7","RFXANK","RFXAP","RILPL1","RNF168","RPGR","RREB1","RSPH1","RSPH4A","RSPRY1","RTEL1","SALL4","SASH3","SCNN1A","SCNN1B","SCNN1G","SEC24C","SERPING1","SETBP1","SGSH","SH2D1A","SH3KBP1","SHH","SLC29A3","SLC37A4","SMARCA2","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SOX11","SOX4","SOX9","SPAG1","SPI1","SRP19","SRP54","STAT1","STAT3","STK11","STK36","STK4","STX3","STXBP2","TAFAZZIN","TAP1","TAP2","TAPBP","TBC1D24","TBX1","TCIRG1","TCOF1","TERC","TERT","TINF2","TMCO1","TNFRSF13B","TNFRSF13C","TNFRSF1A","TNFRSF9","TNFSF12","TOM1","TP53","TP63","TYMS","UFD1","UNC119","UNG","UQCRH","USB1","USP26","USP9X","WAS","WRAP53","XIAP","XPNPEP2","ZAP70","ZBTB24","ZBTB7A","ZMYND10","ZNF341"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPOTELORISM":{"collection":"C5:HPO","systematicName":"M34828","pmid":"","exactSource":"HP:0000601","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000601","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOTELORISM","geneSymbols":["AARS1","AASS","ABCC9","ACBD5","ALDH18A1","AP3D1","ARCN1","ARID1B","ATP6AP1","BICRA","BLTP1","CAMK2A","CARS1","CCDC32","CDK19","CDON","CEP57","CILK1","CLCN3","CNOT1","CNOT3","COX14","CUX1","DCLRE1B","DDB1","DISP1","DLL1","DPM2","DPYSL5","DYRK1A","ELN","EPG5","ERCC2","ERCC3","EVC","EVC2","FANCD2","FARSB","FGF8","FGFR1","FGFR2","FGFR3","FKBP14","FOXH1","FREM1","GAS1","GATA2","GGT1","GJA1","GJA5","GJA8","GLI2","GNB2","GON7","GPT2","GSC","GTF2E2","GTF2H5","HNRNPH2","HUWE1","IFT122","IFT43","IFT52","KANSL1","KAT8","KCTD1","KIF26A","LAGE3","LIG4","MKS1","MLXIPL","MPLKIP","MSTO1","MSX2","NARS1","NDE1","NDP","NF1","NIN","NODAL","NSUN2","NTNG2","NUP107","NUP133","OPHN1","OSGEP","PAH","PDE4D","PDGFRB","PLCH1","POLR3A","POLRMT","PPP1R15B","PRKAR1B","PROKR2","PRPS1","PTCH1","PYCR1","QARS1","RAB3GAP1","RAB3GAP2","RAD21","RECQL4","RERE","RLIM","RNF113A","RTTN","SEPTIN9","SHH","SHPK","SIX3","SLC35A1","SMC1A","SMPD4","SNRPN","SRC","STAG2","STIL","STIM1","SUFU","TARS1","TDGF1","TGIF1","TP53RK","TPRKB","TRAPPC9","TRMT10A","TRRAP","TWIST1","USP9X","WDR19","WDR35","WDR4","WDR73","XRCC4","YRDC","ZIC2","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CENTRAL_SCOTOMA":{"collection":"C5:HPO","systematicName":"M34829","pmid":"","exactSource":"HP:0000603","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000603","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CENTRAL_SCOTOMA","geneSymbols":["ABCA4","ATF6","CACNA1F","CFAP410","CNGA3","CNGB3","CRX","CYP1B1","CYP4V2","DNAJC30","DNM1L","EFEMP1","ELOVL4","FDXR","GNAT2","HGSNAT","IMPG2","ITM2B","MFN2","MFSD8","MT-ATP6","MT-CO1","MT-CO3","MT-CYB","MT-ND1","MT-ND2","MT-ND4","MT-ND4L","MT-ND5","MT-ND6","MTRFR","MYOC","NDUFS2","OPA1","OPA3","PDE6C","PDE6H","PITPNM3","POC1B","PROM1","PRPH2","RAB28","RBP3","RDH5","RHO","RLBP1","RP2","RPGR","RTN4IP1","TIMM8A","TMEM126A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SUPRANUCLEAR_GAZE_PALSY":{"collection":"C5:HPO","systematicName":"M34830","pmid":"","exactSource":"HP:0000605","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000605","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUPRANUCLEAR_GAZE_PALSY","geneSymbols":["AASS","ACOX2","ADD3","AGTPBP1","ALDH4A1","ALS2","ATP13A2","ATXN1","C9orf72","CCDC88C","CHCHD10","DCC","DCTN1","DLAT","EIF2AK2","ELOVL4","FA2H","FTL","FUS","GBA1","HLA-DQB1","HOXA1","KCNC3","MAPT","MTFMT","NAXE","NEK9","NOP56","NPC1","NPC2","PIGT","PLA2G6","PLP1","POLG","POLR3A","POLR3B","PRNP","PSAP","ROBO3","SIGMAR1","SPG11","SPG7","SPTLC1","SQSTM1","SYNJ1","TANGO2","TARDBP","TBK1","TWNK","UBAP1","VAMP1","VCP","VPS13A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_PERIORBITAL_REGION":{"collection":"C5:HPO","systematicName":"M34831","pmid":"","exactSource":"HP:0000606","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000606","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_PERIORBITAL_REGION","geneSymbols":["AARS1","ABCC9","ACTB","ACTG1","ACTN4","ADAMTS2","AGPAT2","AIP","ANKFY1","ANKRD17","ANLN","ANTXR1","AP1G1","APOL1","ARHGAP24","ARHGDIA","ARX","ASXL3","BAZ1B","BCL7B","BRAF","BSCL2","BUD23","CAMTA1","CAV1","CAVIN1","CCBE1","CD2AP","CDH11","CHD1","CHD8","CITED2","CLIP2","CLPB","COL11A2","COL1A1","COL4A3","COL5A1","COL5A2","COQ8B","CRB2","CTLA4","CYP26C1","DAAM2","DHPS","DHX30","DNAJC30","DNMT3B","DOCK7","DUX4","DUX4L1","EDA","EDAR","EDARADD","EDEM3","EIF4H","ELN","EMP2","EPHB4","ERCC4","ESCO2","EXOC2","FBXO31","FGFR1","FGFR2","FGFR3","FHL1","FKBP6","FLNA","FLT4","FOS","FOXG1","FREM1","FRG1","FRMD4A","FTSJ1","GAPVD1","GATA4","GATA5","GATA6","GATAD2B","GDF1","GHR","GJA5","GNE","GNPTAB","GPR101","GRIA3","GSN","GTF2I","GTF2IRD1","GTF2IRD2","H4C11","H4C3","H4C5","HBA1","HBA2","HDAC8","HLA-DPA1","HLA-DPB1","HRAS","HS2ST1","IARS2","IDS","IGSF3","INF2","JAG1","JARID2","KAT6A","KCNJ8","KCTD1","KDR","KIF11","KIF15","KIF1A","KMT2B","KMT2E","KNSTRN","KPTN","KRAS","LAS1L","LBR","LIG4","LIMK1","LMBRD2","LRP2","LTBP4","LZTR1","MAB21L2","MAGI2","MAP2K1","MAP2K2","MAP3K7","MASP1","MDH1","MED12L","MED13","MEGF8","METTL27","MLXIPL","MYD88","MYO1E","MYOD1","NAA10","NCF1","NEU1","NKX2-5","NKX2-6","NPHS1","NPHS2","NRAS","NRCAM","NSD2","NSUN2","NUP107","NUP133","NUP160","NUP205","NUP37","NUP85","NUP93","OPHN1","PAK3","PAX2","PCGF2","PDGFRB","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PHF6","PHF8","PIEZO1","PIK3CD","PIK3R1","PITX2","PLCE1","PLPBP","POLR3A","POMP","POU4F1","PPARG","PPP1R21","PPP2CA","PRMT7","PRR12","PRTN3","PSMB4","PSMB9","PSMC3","PSPH","PTCH1","PTH1R","PTPN22","PTPRO","PUS7","RAB23","RBL2","RBM10","RBMX","RFC2","RIN2","RPS23","RPS6KA3","SEC23A","SERPING1","SETD2","SHANK3","SIK3","SKIC3","SLC25A24","SLC29A3","SLC35C1","SMARCA2","SMCHD1","SNX14","SOST","SOX11","SOX18","SOX4","SP7","SPEN","SPOP","SPTBN1","SRCAP","STX1A","SUMF1","SUZ12","TAF1","TASP1","TBC1D8B","TBL2","TBX1","TCF12","TGFBI","TMEM270","TNFRSF1A","TOE1","TRAPPC9","TRIO","TRPC6","TUBB","TWIST1","TWIST2","UBE2A","VPS33A","VPS37D","WDR4","WT1","XPNPEP2","YARS1","YY1","ZFPM2","ZIC1","ZNHIT3","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PERIORBITAL_WRINKLES":{"collection":"C5:HPO","systematicName":"M46057","pmid":"","exactSource":"HP:0000607","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000607","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERIORBITAL_WRINKLES","geneSymbols":["CDH11","EDA","EDAR","EDARADD","SMARCA2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MACULAR_DEGENERATION":{"collection":"C5:HPO","systematicName":"M34832","pmid":"","exactSource":"HP:0000608","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000608","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MACULAR_DEGENERATION","geneSymbols":["AARS1","ABCA4","ABCC6","AIPL1","ALDH3A2","ANO10","APOE","ARL2BP","ASAH1","ATF6","ATXN7","BEST1","C1QTNF5","C9","CARS1","CDH3","CEP78","CFAP418","CFH","CFHR1","CFHR3","CFI","CLN3","CNGB1","CNGB3","CNNM4","COL18A1","CP","CST3","DHX38","DRAM2","EFEMP1","ELOVL4","EPG5","ERCC2","ERCC3","FBLN1","FBLN5","FBN2","GBA1","GRK1","GTF2E2","GTF2H5","GUCA1A","GUCA1B","GUCY2D","HK1","HLA-A","HMCN1","HTRA1","IFT140","KCNV2","LIG3","LZTFL1","MAPKAPK3","MERTK","MPLKIP","NMNAT1","NR2E3","NRL","PAK2","PAX2","PCYT1A","PITPNM3","PLK4","PPT1","PRCD","PROM1","PRPF31","PRPF4","PRPH2","RAX2","RDH5","RHO","RLBP1","RNF113A","RP1L1","RP9","RPGR","RPGRIP1","RS1","SAG","SCAPER","SEMA4A","SH3BP2","SIX6","SLC24A1","SLC6A6","SPG11","TARS1","TNFRSF11B","TRAF3IP1","TTC8","UNC119","WDR19","XYLT1","XYLT2","YARS1","ZFYVE26","ZNF513"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CHOROID_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M34834","pmid":"","exactSource":"HP:0000610","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000610","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CHOROID_MORPHOLOGY","geneSymbols":["ABCA4","ABCB6","ABCC6","ACTB","ACVRL1","ADAMTS18","AGXT","AKT1","ALDH1A3","APOE","B3GALNT2","B4GAT1","B9D1","B9D2","BCOR","BEST1","BMP4","C12orf57","C1QTNF5","CASK","CC2D2A","CCDC22","CCM2","CEP290","CFH","CFHR1","CFHR3","CFI","CHD7","CHM","CHN1","CLCN2","CLCNKB","CLDN19","CLEC3B","CNGB3","COL18A1","COL4A1","COL8A2","COX7B","CRB1","CRPPA","CRX","CSPP1","CTNNB1","CYP4V2","DACT1","DAG1","DCT","DHX16","DPP6","DPYSL5","EFEMP1","ELOVL4","ENPP1","EPHA2","EYS","FBLN1","FBLN5","FBN2","FKRP","FKTN","FSCN2","FZD4","GDF3","GNAQ","GRHL2","GUCA1A","GUCY2D","GZF1","HADHA","HCCS","HHAT","HLA-A","HLA-DRB1","HMCN1","HMGB3","HMX1","IFNG","IKBKG","IMPG1","IMPG2","INPP5E","JAG1","KIF11","KRAS","KRIT1","LARGE1","LCA5","LRAT","LRP5","MAFB","MAGEL2","MAPKAPK3","MFRP","MICOS13","MKS1","MPDZ","MT-TE","MT-TK","MT-TL1","NAA10","NDE1","NDP","NDUFB11","NF1","NOD2","NRL","OAT","OCRL","OTX2","OVOL2","PAX2","PAX6","PDCD10","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PIGL","PIK3CA","PNPLA6","POMGNT1","POMGNT2","POMK","POMT1","POMT2","PORCN","POU3F4","PROM1","PRPH2","PRSS56","PTEN","RAX","RBP4","RERE","RLBP1","RNU7-1","ROM1","RP2","RPE65","RPGRIP1","RPGRIP1L","RXYLT1","SAG","SALL1","SALL4","SEMA3E","SHH","SIM1","SIX3","SIX6","SLC25A15","SOX2","SPATA7","SPTBN1","TBX22","TCTN1","TCTN2","TCTN3","TEAD1","TIMP3","TMEM107","TMEM138","TMEM216","TMEM231","TMEM237","TMEM67","TMEM98","TSC1","TSC2","TSPAN12","TUBGCP4","TUBGCP6","TXNDC15","UBE3B","VCAN","VPS13B","VPS33A","VPS35L","VSX1","WAC","WASHC5","WT1","XYLT1","XYLT2","YAP1","ZEB1","ZEB2","ZNF408","ZNF423","ZNF668"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_IRIS_COLOBOMA":{"collection":"C5:HPO","systematicName":"M34835","pmid":"","exactSource":"HP:0000612","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000612","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IRIS_COLOBOMA","geneSymbols":["AAAS","ABCB6","ACTB","ACTG1","ADNP","AHI1","ALG2","ALG3","ALX3","ANK1","ARL13B","ARL3","ARMC9","ATOH7","ATP6V1A","B3GALNT2","B3GLCT","B4GAT1","B9D1","B9D2","BCOR","BMP4","C12orf57","CBY1","CC2D2A","CCDC22","CDON","CENPF","CEP104","CEP120","CEP290","CEP41","CHD7","CHN1","COL4A1","COX7B","CPLANE1","CPLX1","CRPPA","CRYAA","CRYBA4","CRYBB1","CRYBB2","CRYGC","CRYGD","CSPP1","CTBP1","DACT1","DAG1","DHCR7","DISP1","DLL1","DPYSL5","DYRK1A","ELP4","ERF","FGF3","FGF8","FGFR1","FGFR2","FGFRL1","FKRP","FKTN","FLI1","FLNA","FOXH1","GAS1","GDF3","GJA8","GLI2","GMPPA","GNAQ","GZF1","HCCS","HMGB3","HMX1","HRAS","HYLS1","IFT74","IGBP1","INPP5E","KATNIP","KCTD1","KIAA0586","KIAA0753","KIFBP","KMT2D","KRAS","LARGE1","LETM1","LRP2","MAF","MAFB","MBTPS2","MED12L","MIR204","MKS1","MMP14","MMP2","MPDZ","NAA10","NDUFB11","NELFA","NODAL","NOTCH2","NOTCH3","NPHP1","NRAS","NSD2","OFD1","PDE6D","PIBF1","PIGG","PNPLA6","POGZ","POLR1B","POLR1C","POLR1D","POMGNT1","POMGNT2","POMK","POMT1","POMT2","PORCN","PRR12","PTCH1","PTCH2","PUF60","PXDN","RB1","RBP4","RERE","ROR1","RPGRIP1L","RSPO2","RXYLT1","SALL1","SALL2","SALL4","SEMA3E","SHH","SIN3A","SIX3","SIX6","SMCHD1","SMO","SOX2","SPTBN1","SRD5A3","SUFU","TBX22","TCEAL1","TCOF1","TCTN1","TCTN2","TCTN3","TDGF1","TENM3","TFAP2A","TGIF1","TMEM138","TMEM216","TMEM218","TMEM231","TMEM237","TMEM67","TOGARAM1","TRAPPC11","TRIM37","VPS13B","VPS35L","VSX2","WASHC5","WNT3","YAP1","ZEB2","ZIC2","ZNF423"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PHOTOPHOBIA":{"collection":"C5:HPO","systematicName":"M34836","pmid":"","exactSource":"HP:0000613","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000613","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PHOTOPHOBIA","geneSymbols":["AARS1","ABCA4","ADAM9","AFG3L2","AGBL5","AHI1","AHR","AHSG","AIPL1","AIRE","ALDH3A2","ALMS1","ANTXR1","AP1B1","AP3B1","AP3D1","ARHGEF18","ARL2BP","ARL3","ARL6","ATF6","ATXN7","BBS1","BBS2","BEST1","BLOC1S5","C1QTNF5","C4A","CA4","CABP4","CACNA1F","CACNA2D4","CARS1","CC2D2A","CCR1","CDHR1","CEP250","CEP78","CERKL","CFAP410","CFAP418","CFH","CFI","CHST6","CLCC1","CLRN1","CLTRN","CNGA1","CNGA3","CNGB1","CNGB3","CNNM4","COL17A1","COL4A1","COL8A2","CRB1","CRX","CRYGC","CST6","CTNS","DCN","DCT","DDB2","DHDDS","DHX38","DKK1","DRAM2","EDNRA","EFEMP1","ELOVL1","ELOVL4","EPCAM","ERAP1","ERCC1","ERCC2","ERCC3","ERCC4","ERCC5","ERCC6","ERCC8","ESR1","EYS","FAM161A","FAS","FOXC2","FSCN2","GALC","GAN","GJA1","GJB2","GJB6","GNAT2","GNB3","GPR143","GRHL2","GTF2E2","GTF2H5","GUCA1A","GUCA1B","GUCY2D","GUSB","HADHA","HARS1","HGSNAT","HK1","HLA-A","HLA-B","HLA-DRB1","HPS1","HPS6","IDH3A","IDH3B","IFNGR1","IFT140","IFT172","IFT88","IKZF1","IL10","IL12A","IL12A-AS1","IL23R","IMPDH1","IMPG1","IMPG2","INPP5E","ITGB6","ITM2B","KCNJ13","KCNV2","KIAA1549","KIZ","KLHL7","KLRC4","KRT12","KRT14","KRT3","KRT5","LCA5","LRAT","LRMDA","LSS","LTBP2","LYST","MAK","MAPT","MBTPS2","MC1R","MCOLN1","MEFV","MERTK","MFRP","MPLKIP","NEK2","NLRP1","NLRP3","NMNAT1","NOD2","NOTCH2NLC","NR2E3","NRL","OCA2","OFD1","OPN1LW","OPN1MW","OPN1SW","OVOL2","PCARE","PCNA","PDE6A","PDE6B","PDE6C","PDE6G","PDE6H","PERCC1","PIKFYVE","PITPNM3","PLCD1","PNPLA6","POC1B","POLA1","POLH","POMGNT1","PRCD","PROM1","PRPF3","PRPF31","PRPF4","PRPF6","PRPF8","PRPH2","PSAP","RAB28","RAX2","RBP3","RDH12","RDH5","REEP6","RGR","RGS9","RGS9BP","RHO","RIMS1","RIMS2","RLBP1","RNF113A","ROM1","RP1","RP1L1","RP2","RP9","RPE65","RPGR","RPGRIP1","RTN4IP1","SAG","SCAPER","SCN1A","SEMA4A","SLC1A3","SLC24A5","SLC39A4","SLC45A2","SLC6A19","SLC7A14","SNRNP200","SPATA7","SREBF1","ST14","STAT4","TACSTD2","TARS1","TAT","TGFBI","TIMM8A","TLCD3B","TLR4","TNF","TOPORS","TP63","TRANK1","TTC8","TTLL5","TUB","TUBB4B","TULP1","TYR","UBAC2","UNC119","USH2A","VSX1","WDR45","WNT10A","XPA","XPC","ZEB1","ZNF408","ZNF513"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_NASOLACRIMAL_SYSTEM_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M34837","pmid":"","exactSource":"HP:0000614","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000614","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_NASOLACRIMAL_SYSTEM_MORPHOLOGY","geneSymbols":["BCL10","BIRC3","BTNL2","CD151","COL3A1","COX7B","CREBBP","EP300","EYA1","FGF10","FGFR1","FGFR2","FGFR3","FOXL2","FOXP1","FRAS1","FREM1","FREM2","GJB2","GJB6","GRIP1","HCCS","HLA-DRB1","HMX1","IGSF3","KAT6A","KAT6B","KIF11","KMT2D","KNSTRN","KRAS","LEMD3","MALT1","MBTPS2","MED12","MEGF8","NDUFB11","NHP2","NOP10","PAX1","PAX3","PEX1","PEX6","PIK3CD","PPP1CB","PPP2R3C","PRMT7","PRR12","PTDSS1","SATB2","SIX1","SIX5","SLC25A24","SMC3","SMC5","SMCHD1","SOX10","SOX6","SPRED2","TAF1","TCOF1","TET3","TFAP2A","TGDS","TP63","TRRAP","TWIST1","UBR1","USB1","YY1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_PUPIL_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M34838","pmid":"","exactSource":"HP:0000615","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000615","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PUPIL_MORPHOLOGY","geneSymbols":["AAAS","ADAMTSL4","AP3D1","ARL6IP6","ATOH7","CHN1","COL18A1","COL25A1","COL3A1","COL4A1","COL8A2","CPAMD8","CPLX1","CTBP1","DDX6","ELP1","FBN1","FGFRL1","FOXC1","FZD4","GFAP","GJA1","GMPPA","GNA11","GPR143","GRHL2","HRAS","KCTD1","KIF21A","KRT25","KRT71","KRT74","LAMB2","LETM1","LIPH","LOXL1","LPAR6","MAB21L2","MAFB","MPZ","NDP","NSD2","OCRL","OVOL2","PAX6","PCYT1A","PHOX2A","PHOX2B","PIK3R1","PITX2","PMP22","POMT2","PTEN","RB1","RBP4","RHOA","SALL4","SH3TC2","SIN3A","STIM1","TBX2","TINF2","TMEM67","TONSL","TRPM3","TUBA1A","TUBB2B","TUBB3","VSX1","WT1","ZEB1","ZEB2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MIOSIS":{"collection":"C5:HPO","systematicName":"M34839","pmid":"","exactSource":"HP:0000616","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000616","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MIOSIS","geneSymbols":["CHRDL1","COL25A1","DDC","DNMBP","ERCC6","GNB2","HHAT","KIF1B","KIF21A","NOTCH2NLC","ORAI1","PEX7","PHOX2A","PHYH","RAB18","SIX6","STIM1","TUBA1A","TUBB2B","TUBB3","ZFHX4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_OCULAR_SMOOTH_PURSUIT":{"collection":"C5:HPO","systematicName":"M34840","pmid":"","exactSource":"HP:0000617","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000617","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_OCULAR_SMOOTH_PURSUIT","geneSymbols":["AARS1","ALS2","ANO10","ATN1","ATP2B3","ATXN1","ATXN10","ATXN2","ATXN3","ATXN8OS","CACNA1A","CACNA1G","DARS2","DPM2","EEF2","ELOVL4","FGF14","FMR1","FTL","GBA2","GDAP2","GJB1","GNB1","INPP5E","ITPR1","KCNC3","KCND3","KCNN2","MAN2B1","MRE11","NOP56","PAFAH1B1","PDHB","PEX10","PIK3R5","PLA2G6","PLD3","PMPCA","POLR3A","POLR3B","PRDX3","PRKCG","PRNP","RARS1","RFC1","RNF170","RUBCN","SACS","SCYL1","SETX","SPG11","SPTBN2","STT3A","STUB1","STXBP1","SYNE1","SYT14","TBCD","TBP","THG1L","TMEM106B","TMEM216","TMEM240","TPP1","TSEN54","TTBK2","TULP1","UCHL1","WARS2","XRCC1","XRCC4","ZFYVE26"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BLINDNESS":{"collection":"C5:HPO","systematicName":"M34841","pmid":"","exactSource":"HP:0000618","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000618","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BLINDNESS","geneSymbols":["ABCA4","ABCD1","ACTB","ADAMTS10","AGBL5","AHI1","AHR","AIP","AIPL1","AKT1","ALMS1","ARHGEF18","ARL2BP","ARL3","ARL6","ARNT2","ASNS","ASPA","ATIC","ATOH7","ATP1A3","ATP5F1A","ATP5F1D","ATP5F1E","ATP5MK","ATPAF1","ATPAF2","ATRX","ATXN7","B3GALNT2","B4GAT1","BAP1","BBS1","BBS2","BCOR","BEST1","BMP4","BTNL2","C4A","CA4","CAPN5","CC2D2A","CCR1","CD109","CDH23","CDH3","CDHR1","CEP164","CEP290","CERKL","CFAP418","CLCN7","CLN3","CLRN1","CNGA1","CNGB1","COL2A1","COX7B","CRB1","CREBBP","CRX","CTC1","CTNNB1","CTNS","CYP4V2","DHDDS","DHX37","DHX38","EIF2B1","ERAP1","ERCC4","EYS","FAM161A","FAS","FBN1","FDXR","FKRP","FKTN","FLVCR1","FOXRED1","FRAS1","FREM2","FSCN2","FZD4","GALC","GATA1","GJB2","GLB1","GM2A","GMPPB","GNAQ","GNAS","GP1BA","GP1BB","GRIP1","GUCA1B","GUCY2D","HCCS","HEXA","HEXB","HGSNAT","HLA-B","HLA-DRB1","HPS1","HSD17B10","IDH3A","IDH3B","IFNGR1","IFT140","IFT172","IFT88","IL10","IL12A","IL12A-AS1","IL23R","IMPDH1","IMPG1","IMPG2","ITGA2","ITGA2B","ITGB3","KIAA1549","KIF11","KIF14","KIZ","KLHL7","KLRC4","LAMB2","LARGE1","LONP1","LRAT","LRP5","MAK","MEFV","MEN1","MERTK","MFSD8","MT-ATP6","MT-ATP8","MT-ND1","MT-ND2","MT-ND3","MTR","MTRR","MTTP","NAA10","NDE1","NDP","NDUFA1","NDUFA11","NDUFA6","NDUFAF1","NDUFAF2","NDUFAF3","NDUFAF4","NDUFAF5","NDUFAF8","NDUFB10","NDUFB11","NDUFB3","NDUFB9","NDUFS1","NDUFS2","NDUFS3","NDUFS4","NDUFS6","NDUFS7","NDUFS8","NDUFV1","NDUFV2","NEK2","NF1","NF2","NLRP3","NR2E3","NRL","NSMCE2","NUBPL","OAT","OFD1","OPA1","OPA3","PANK2","PCARE","PDE6A","PDE6B","PDE6G","PDGFB","PDHA1","PEX6","PGK1","PIK3CA","PIK3R2","PITX3","PLA2G6","PLG","PLOD1","POGZ","POLG","POMGNT1","POMK","POMT1","POMT2","PPT1","PQBP1","PRCD","PROM1","PROS1","PRPF3","PRPF31","PRPF4","PRPF6","PRPF8","PRPH2","PRPS1","PSAP","RBP3","RD3","RDH12","REEP6","RGR","RHO","RLBP1","ROM1","RP1","RP1L1","RP2","RP9","RPE65","RPGR","SAG","SARDH","SCAPER","SCN1A","SDHA","SDHAF1","SDHB","SDHD","SEMA4A","SLC7A14","SMARCB1","SMARCE1","SMCHD1","SMO","SNRNP200","SPATA7","SREBF1","STAT4","SUFU","TBC1D24","TCIRG1","TERT","TIMMDC1","TIMP3","TLR4","TMEM126B","TMEM138","TMEM216","TMEM231","TMEM237","TMEM67","TNFSF11","TOPORS","TRAF7","TSPAN12","TTC8","TUB","TULP1","UBAC2","UFM1","UROD","UROS","USH2A","XRCC4","ZNF408","ZNF423","ZNF513"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DACRYOCYSTITIS":{"collection":"C5:HPO","systematicName":"M34842","pmid":"","exactSource":"HP:0000620","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000620","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DACRYOCYSTITIS","geneSymbols":["BTNL2","FGFR2","HLA-DRB1","IGSF3","LEMD3","PRMT7","SATB2","TP63"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ENTROPION":{"collection":"C5:HPO","systematicName":"M34843","pmid":"","exactSource":"HP:0000621","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000621","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ENTROPION","geneSymbols":["ALDH1A3","ATP6V1A","ATP6V1E1","DDB2","ERCC2","ERCC3","ERCC4","ERCC5","ERCC6","GMNN","HLA-B","IKZF1","LMNA","POLH","POLR3A","PPP2R1A","TP63","XPA","XPC","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BLURRED_VISION":{"collection":"C5:HPO","systematicName":"M34844","pmid":"","exactSource":"HP:0000622","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000622","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BLURRED_VISION","geneSymbols":["ABCA1","APOA1","ATP1A2","CACNA1A","CLCNKB","COL17A1","COL4A1","COL8A2","DBH","DNAJC30","GRHL2","HGSNAT","HLA-A","HLA-DRB1","KCNA1","LCA5","LRAT","MAPT","MT-ATP6","MT-CO1","MT-CO3","MT-CYB","MT-ND1","MT-ND2","MT-ND4","MT-ND4L","MT-ND5","MT-ND6","NDUFS2","NLRP3","NOP56","OVOL2","RPE65","SCN4A","SCN9A","SLC12A3","SLC4A11","SOST","SPATA7","TACSTD2","TGFBI","TRANK1","VSX1","ZEB1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SUPRANUCLEAR_OPHTHALMOPLEGIA":{"collection":"C5:HPO","systematicName":"M34845","pmid":"","exactSource":"HP:0000623","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000623","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUPRANUCLEAR_OPHTHALMOPLEGIA","geneSymbols":["ATXN1","ATXN2","ATXN3","ATXN7","GBA1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_EYELID_COLOBOMA":{"collection":"C5:HPO","systematicName":"M43256","pmid":"","exactSource":"HP:0000625","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000625","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EYELID_COLOBOMA","geneSymbols":["ADAR","ADNP","ALX1","CCNQ","CDH11","CHD7","DHODH","EDNRA","ESCO2","FGFR1","FLI1","FRAS1","FREM1","IFIH1","KCTD1","KRAS","LSM11","POLR1A","POLR1B","POLR1C","POLR1D","RIPK4","RNASEH2A","RNASEH2B","RNASEH2C","RNU7-1","RPL26","SAMHD1","SEMA3E","SF3B2","SF3B4","SLC25A24","TCOF1","TREX1","TWIST1","TXNL4A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PERIORBITAL_FULLNESS":{"collection":"C5:HPO","systematicName":"M34847","pmid":"","exactSource":"HP:0000629","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000629","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERIORBITAL_FULLNESS","geneSymbols":["ANKRD17","ARX","ASXL3","CHD1","CLPB","DOCK7","EDEM3","ELN","FGFR2","FTSJ1","GATAD2B","GNE","H4C11","H4C3","H4C5","HRAS","HS2ST1","KMT2B","KMT2E","MAB21L2","MAP3K7","MED13","MLXIPL","NRAS","NRCAM","NSD2","PCGF2","PEX19","PLPBP","PPP2CA","RBL2","RBMX","RPS23","SETD2","SPEN","SRCAP","TASP1","TRIO","TUBB","TWIST2","VPS33A","WDR4","YY1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LACRIMATION_ABNORMALITY":{"collection":"C5:HPO","systematicName":"M34850","pmid":"","exactSource":"HP:0000632","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000632","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LACRIMATION_ABNORMALITY","geneSymbols":["AAAS","ALX4","AP1B1","ATOH7","BAZ1B","BCL7B","BUD23","CHD7","CLDN10","CLIP2","COL17A1","COL8A2","DKC1","DNAJC30","DST","EIF4H","ELN","ELP1","ERCC4","ERCC6","ERCC8","EYA1","FGF10","FGFR2","FGFR3","FKBP6","FOXL2","FZD4","GMPPA","GRHL2","GTF2I","GTF2IRD1","GTF2IRD2","HLA-DRB1","IGSF3","IL6ST","KRT12","KRT3","LIFR","LIMK1","LRP1","MADD","MAPT","METTL27","MLXIPL","NCF1","NDP","NGLY1","NHP2","NLRP3","NOP10","OCRL","OVOL2","PARN","PAX1","PAX3","PIGQ","PRDM12","RFC2","SCN9A","SDHD","SEMA3E","SEMA4A","SETBP1","SIX1","SLC12A2","SLC39A14","SOX10","SREBF1","STX1A","TACSTD2","TBL2","TINF2","TMEM270","TP63","TRAPPC11","TWIST2","TYMS","UBR1","VPS37D","VSX1","ZEB1","ZFHX2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DECREASED_LACRIMATION":{"collection":"C5:HPO","systematicName":"M34851","pmid":"","exactSource":"HP:0000633","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000633","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_LACRIMATION","geneSymbols":["AAAS","ALX4","AP1B1","CLDN10","DST","ELP1","ERCC4","ERCC6","ERCC8","FGF10","FGFR2","FGFR3","FOXL2","GMPPA","LIFR","MADD","MAPT","NGLY1","PAX1","PIGQ","PRDM12","SETBP1","SLC12A2","SOX10","TRAPPC11"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_IMPAIRED_OCULAR_ABDUCTION":{"collection":"C5:HPO","systematicName":"M46058","pmid":"","exactSource":"HP:0000634","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000634","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRED_OCULAR_ABDUCTION","geneSymbols":["MAFB","MYMK","MYMX","ROBO3","SALL4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BLUE_IRIDES":{"collection":"C5:HPO","systematicName":"M34852","pmid":"","exactSource":"HP:0000635","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000635","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BLUE_IRIDES","geneSymbols":["BAZ1B","BCL7B","BLOC1S3","BUD23","CLIP2","DNAJC30","EDN3","EDNRB","EIF4H","ELN","FKBP6","GTF2I","GTF2IRD1","GTF2IRD2","HERC2","KITLG","LIMK1","MAPK1","MC1R","METTL27","MITF","MLXIPL","NCF1","OCA2","PAH","PAX3","PDE4D","PRKAR1A","PRR12","RFC2","RLIM","SLC45A2","SNRPN","SOS1","SOX10","STX1A","TBL2","TMEM270","TP63","TYR","TYRP1","UBE3A","VPS37D"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_UPPER_EYELID_COLOBOMA":{"collection":"C5:HPO","systematicName":"M34853","pmid":"","exactSource":"HP:0000636","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000636","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UPPER_EYELID_COLOBOMA","geneSymbols":["ALX1","CDH11","FRAS1","FREM1","POLR1A","SF3B2","SLC25A24","TCOF1","TWIST1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LONG_PALPEBRAL_FISSURE":{"collection":"C5:HPO","systematicName":"M34854","pmid":"","exactSource":"HP:0000637","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000637","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LONG_PALPEBRAL_FISSURE","geneSymbols":["ACTB","ACTG1","ADNP","AFF3","ANKRD11","AP3B2","ARX","BMP1","BRAF","BUB1","CAMK2G","CCNK","CLP1","CUX1","DDB1","DNM1","DPH5","DVL1","DVL3","EIF5A","FIBP","FTSJ1","FZD2","GATAD2B","GNB2","H4C5","HDAC4","HNRNPK","INPPL1","IPO8","KDM6A","KMT2A","KMT2D","KRAS","LMBRD2","LMNB1","MAP2K1","MAP2K2","NXN","OTUD6B","PCLO","PDE4D","PGAP2","PGAP3","PIGL","PIGO","PIGV","PIGW","PIGY","PIK3R2","PRR12","PURA","RAC1","RFX7","RNU4ATAC","ROR2","SPEN","SPOP","SPTBN1","TBL1XR1","TGFB3","WAC","WARS1","WNT5A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_GAZE_EVOKED_NYSTAGMUS":{"collection":"C5:HPO","systematicName":"M34855","pmid":"","exactSource":"HP:0000640","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000640","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GAZE_EVOKED_NYSTAGMUS","geneSymbols":["AFG3L2","APTX","ATP1A2","ATXN1","ATXN10","ATXN2","ATXN3","BEAN1","CACNA1A","CACNA1G","CACNB4","COL18A1","COQ2","EXOSC9","FGF14","GCH1","GDAP2","GRID2","GRM1","ITPR1","KCND3","MRE11","PAX7","PIK3R5","PMPCA","POLG","POLR3A","POLR3B","PRDX3","PRKCG","PRRT2","RBL2","RFC1","SACS","SAMD9L","SCN1A","SCN8A","SDHA","SETX","SLC1A3","SOX3","SPG11","SPTBN2","STUB1","SYT14","TBP","TDP1","THG1L","TMEM106B","UBAP1","UCHL1","UROC1","VLDLR","VPS13D","WWOX"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DYSMETRIC_SACCADES":{"collection":"C5:HPO","systematicName":"M34856","pmid":"","exactSource":"HP:0000641","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000641","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DYSMETRIC_SACCADES","geneSymbols":["AFG3L2","ANO10","ATXN1","ATXN2","ATXN3","ATXN8OS","EEF2","ITPR1","MFN2","MRE11","PDYN","PEX10","SCYL1","SPTBN2","TGM6","TPP1","UBAP1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RED_GREEN_DYSCHROMATOPSIA":{"collection":"C5:HPO","systematicName":"M34857","pmid":"","exactSource":"HP:0000642","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000642","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RED_GREEN_DYSCHROMATOPSIA","geneSymbols":["ACO2","C1QTNF5","FGF14","MFSD8","NR2E3","OPA1","OPA3","OPN1LW","OPN1MW"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_AMBLYOPIA":{"collection":"C5:HPO","systematicName":"M34858","pmid":"","exactSource":"HP:0000646","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000646","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AMBLYOPIA","geneSymbols":["ACVRL1","ADAMTSL4","ADNP","AFF4","AP1G1","AP4B1","AP4E1","AP4M1","AP4S1","ARHGEF2","ATOH7","B3GAT3","C1QBP","CBS","CDC42BPB","CHN1","CHST3","CLCN6","CLN3","COL11A1","COL25A1","COL4A1","COL8A2","COL9A1","COL9A2","COL9A3","COX7B","CRYAA","CRYBB1","CRYGC","DNMBP","DPP6","DYRK1A","ELN","ELP4","ENG","EPRS1","ERF","FBN1","FGFR2","FGFR3","FLNA","FOXL2","FZD4","GDF2","GPR143","GRHL2","H1-4","H4C3","HCCS","HDAC4","HPS6","KAT6A","KCNN2","KIF11","KIF21A","KMT2D","LAMA1","LIM2","LMBRD2","MAFB","MAP3K7","MED12","MED25","MICU1","MLXIPL","NDP","NDUFB11","NF2","NFIX","NOG","NPHP4","NR2F1","OCRL","OGT","OVOL2","P4HTM","PAX6","PDZD8","PHOX2A","PIGN","PITX2","POLR3GL","PRR12","PRSS56","PUF60","RIC1","RORA","RRAS2","SALL4","SCN8A","SF3B2","SMAD4","SMCHD1","SMO","SOBP","TANGO2","TASP1","TBX1","TFE3","TRIO","TUBA1A","TUBB2B","TUBB3","TWIST1","UFC1","VSX1","WAC","WARS2","WDR26","XYLT2","YME1L1","ZEB1","ZFHX4","ZMIZ1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SCLEROCORNEA":{"collection":"C5:HPO","systematicName":"M34859","pmid":"","exactSource":"HP:0000647","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000647","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SCLEROCORNEA","geneSymbols":["B3GALT6","B9D1","B9D2","BMP4","CC2D2A","CENPF","CEP290","COX7B","CPLX1","CSPP1","CTBP1","DHCR7","FGFR1","FIG4","FOXE3","HCCS","HMX1","KERA","LETM1","MAB21L2","MAPKAPK5","MKS1","NDP","NDUFB11","NELFA","NSD2","PAX6","PIGG","PRDM5","PXDN","RAX","RPGRIP1","RPGRIP1L","SCARF2","SIX6","SLC25A24","SOX2","TBX1","TCTN1","TCTN2","TCTN3","TENM3","TMEM107","TMEM216","TMEM231","TMEM237","TMEM67","TXNDC15","VAC14"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_OPTIC_ATROPHY":{"collection":"C5:HPO","systematicName":"M41221","pmid":"","exactSource":"HP:0000648","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000648","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OPTIC_ATROPHY","geneSymbols":["AAAS","AARS1","ABCA4","ABHD12","ACADS","ACO2","ACOX1","ACTL6B","ADA2","ADAM22","ADAR","AFF4","AFG3L2","AGBL5","AGTPBP1","AGXT","AHI1","AHR","AKT3","ALG13","ALG3","ALG8","AMPD2","ANTXR1","AP1S2","AP3B2","ARHGEF18","ARL2BP","ARL3","ARL6","ARSA","ARV1","ARVCF","ARX","ASPA","ASXL1","ATAD3A","ATG7","ATIC","ATP1A2","ATP1A3","ATP5F1A","ATP5F1D","ATP5F1E","ATP5MK","ATP6V1A","ATP6V1B2","ATPAF1","ATPAF2","ATRX","ATXN1","ATXN7","AUH","B3GALNT2","B3GLCT","B4GAT1","B9D1","B9D2","BBS1","BBS2","BCAP31","BEST1","BOLA3","BRAF","BRAT1","BTD","C19orf12","CA2","CA4","CACNA1A","CACNA1B","CACNA2D1","CASK","CASR","CASZ1","CBS","CC2D2A","CCDC22","CCDC88A","CDC42","CDHR1","CDK19","CELF2","CEP290","CERKL","CFAP410","CFAP418","CHD7","CHSY1","CISD2","CKAP2L","CLCN3","CLCN7","CLN3","CLP1","CLRN1","CLTC","CNGA1","CNGB1","CNKSR2","CNNM4","CNOT3","COA8","COG6","COL4A1","COMT","CPLX1","CPSF3","CRB1","CRPPA","CRX","CSF1R","CSPP1","CTBP1","CTC1","CTNNA2","CTNNB1","CYFIP2","CYP27A1","CYP7B1","DAG1","DALRD3","DARS2","DDB2","DENND5A","DGUOK","DHCR7","DHDDS","DHX38","DIAPH1","DKC1","DNAJC19","DNAJC30","DNM1","DNM1L","DNMT1","DOCK6","DPAGT1","DPM1","DPM2","DPYD","DPYSL5","EEF1A2","EIF2B1","EIF2B2","EIF2B4","ELP1","ELP4","EMC1","EPG5","EPRS1","ERCC1","ERCC2","ERCC3","ERCC4","ERCC5","ERCC6","ERCC8","ERF","EXOSC3","EXOSC5","EXOSC8","EXOSC9","EYS","FA2H","FAM161A","FBXO28","FCSK","FDX2","FDXR","FGF12","FGF13","FGFR2","FGFR3","FH","FKRP","FKTN","FLRT1","FLVCR1","FOXRED1","FRMPD4","FSCN2","FXN","FZR1","GABBR2","GABRA2","GABRA5","GABRB2","GABRD","GABRG2","GALC","GEMIN4","GJA1","GJC2","GLA","GLB1","GLRX5","GMPPA","GMPPB","GNA11","GNAQ","GP1BB","GPAA1","GRIN2D","GRN","GTPBP2","GUCA1B","HCN1","HGSNAT","HIKESHI","HIRA","HK1","HLA-B","HLA-DRB1","HSD17B10","HSPG2","HUWE1","IBA57","IDH3A","IDH3B","IDS","IER3IP1","IFT140","IFT172","IFT88","IKBKG","IMPDH1","IMPG1","IMPG2","INPP5K","INTS8","ISCA2","JMJD1C","KANSL1","KAT6A","KCNA2","KCNAB2","KCNB1","KCNC3","KCTD7","KIAA1549","KIF11","KIF1A","KIF7","KIZ","KLC2","KLHL7","KNSTRN","KRAS","L2HGDH","LAMB1","LARGE1","LETM1","LRAT","LRP4","LRP5","LUZP1","MAG","MAK","MAP2K1","MAP2K2","MCOLN1","MECR","MERTK","MFF","MFN2","MFSD8","MGP","MICOS13","MICU1","MID2","MINPP1","MKS1","MMACHC","MMP23B","MMUT","MOGS","MPDU1","MPDZ","MPLKIP","MRPS34","MT-ATP6","MT-ATP8","MT-CO1","MT-CO2","MT-CO3","MT-CYB","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND4L","MT-ND5","MT-ND6","MT-RNR1","MT-TF","MT-TH","MT-TK","MT-TL1","MT-TN","MT-TP","MT-TQ","MT-TS1","MT-TS2","MT-TV","MT-TW","MTFMT","MTHFR","MTO1","MTOR","MTPAP","MTRFR","MTSS2","MYO5A","NADK2","NAGA","NALCN","NARS2","NBAS","NDP","NDUFA11","NDUFA13","NDUFA6","NDUFAF2","NDUFAF4","NDUFAF5","NDUFAF8","NDUFS1","NDUFS2","NDUFV2","NECAP1","NEK2","NELFA","NEU1","NFIX","NGLY1","NIPBL","NLRP3","NMNAT1","NOTCH2NLC","NR2E3","NR2F1","NRCAM","NRL","NSD2","NT5C2","NTRK2","NUP54","NUP62","NUS1","OFD1","OGDHL","OPA1","OPA3","OSTM1","P4HA2","P4HTM","PACS2","PANK2","PARS2","PAX6","PCARE","PCK1","PCLO","PCYT2","PDE6A","PDE6B","PDE6G","PDHX","PDPN","PDSS1","PDXK","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PI4KA","PIEZO2","PIGG","PIGU","PIK3CA","PIK3CD","PLA2G6","PLAA","PLEKHM1","PLK4","PLP1","PMPCB","PNPLA6","POGZ","POLG","POLG2","POLR3A","POLR3B","POLR3K","POMGNT1","POMGNT2","POMK","POMT1","POMT2","PORCN","POU3F4","PPP1R21","PPP3CA","PPT1","PRCD","PRDM16","PRICKLE3","PRKAR1A","PRKCZ","PROM1","PRPF3","PRPF31","PRPF4","PRPF6","PRPF8","PRPH2","PRPS1","PRUNE1","PSAP","PTCD3","PTPN22","RAB11B","RAB18","RAB23","RAB3GAP1","RAB3GAP2","RBL2","RBM10","RBP3","RDH12","RECQL4","REEP6","RERE","RFC1","RGR","RHO","RHOA","RLBP1","RNF170","RNF216","RNU7-1","ROM1","RP1","RP1L1","RP2","RP9","RPE65","RPGR","RPGRIP1","RPGRIP1L","RPIA","RPS6KA3","RREB1","RRM2B","RSPO2","RXYLT1","SAG","SARDH","SBF2","SCAPER","SCN3A","SCN8A","SCYL1","SCYL2","SDHA","SEC23A","SEC24C","SEC31A","SELENOI","SEMA3E","SEMA4A","SERAC1","SH3BP2","SH3TC2","SIL1","SKI","SLC13A5","SLC19A2","SLC1A2","SLC25A19","SLC25A46","SLC29A3","SLC30A9","SLC38A3","SLC39A14","SLC44A1","SLC52A2","SLC6A9","SLC7A14","SMOC1","SNAP29","SNRNP200","SNX10","SON","SOST","SOX5","SP7","SPATA7","SPEN","SPG7","SRD5A3","SSBP1","ST3GAL5","STAMBP","STT3B","SUMF1","SURF1","SYNE1","SYNGAP1","SYNJ1","SZT2","TACO1","TANGO2","TBC1D20","TBC1D24","TBC1D2B","TBC1D7","TBCD","TBCE","TBX1","TCIRG1","TCTN1","TCTN2","TCTN3","TFG","TGFB1","THG1L","TIMM50","TIMM8A","TK2","TMEM107","TMEM126A","TMEM216","TMEM222","TMEM231","TMEM237","TMEM53","TMEM63A","TMEM67","TMTC3","TNFRSF11A","TNFRSF11B","TNFSF11","TOE1","TOPORS","TRAF7","TRAK1","TRAPPC11","TRAPPC12","TSC1","TSC2","TSEN54","TSFM","TTC8","TUB","TUBB4A","TUBGCP2","TUBGCP4","TUBGCP6","TULP1","TWIST1","TWNK","TXN2","TXNDC15","UBA5","UBE3B","UBE4B","UCHL1","UFD1","USH2A","VCAN","VPS11","VPS13B","VPS33A","VPS35L","VPS53","VRK1","WARS2","WASHC5","WDR4","WDR45","WDR73","WFS1","WNT3","WWOX","XPA","XPC","YAP1","YME1L1","YWHAG","ZEB2","ZNF408","ZNF513","ZNF592","ZNHIT3","ZPR1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_VISUAL_EVOKED_POTENTIALS":{"collection":"C5:HPO","systematicName":"M34860","pmid":"","exactSource":"HP:0000649","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000649","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_VISUAL_EVOKED_POTENTIALS","geneSymbols":["AAAS","ABCA4","ACOX1","ARHGEF2","ARSA","ATP1A3","ATXN1","CLCN7","CLN5","CLN8","CNGB3","COX6B1","CWC27","CYP27A1","DNM1L","ELOVL4","EMC1","ERCC6","ERCC8","FXN","GALC","GJC2","LAMA2","MECR","MFF","MFN2","MOGS","MPDU1","NDRG1","NDUFS4","NOTCH3","OPA1","OSTM1","PLA2G6","POGZ","POLG","POMGNT1","PROM1","PRPH2","PRPS1","PSAP","RAB18","RAB3GAP1","RAB3GAP2","RDH11","SCAPER","SLC25A22","SNX10","SPG11","SUCLA2","TBC1D20","TCIRG1","TIMM8A","TNFSF11","TTPA","TYR","ZNHIT3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LOWER_EYELID_COLOBOMA":{"collection":"C5:HPO","systematicName":"M34862","pmid":"","exactSource":"HP:0000652","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000652","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOWER_EYELID_COLOBOMA","geneSymbols":["EDNRA","KCTD1","POLR1A","POLR1B","POLR1C","POLR1D","RIPK4","SF3B4","TCOF1","TXNL4A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SPARSE_EYELASHES":{"collection":"C5:HPO","systematicName":"M34863","pmid":"","exactSource":"HP:0000653","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000653","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPARSE_EYELASHES","geneSymbols":["ALX1","ALX4","ANTXR1","APCDD1","B4GALT7","BANF1","BLM","CDH3","CLDN1","COL11A1","CST6","CWC27","DKC1","DLX4","DOLK","DPH1","DPH5","DSC3","DSG4","DSP","EBP","EDA","EDAR","EDARADD","EDNRA","EPS8L3","FAM111B","FIG4","GJA1","GJB2","GJB6","GTPBP2","HRURF","IRX5","ITGA3","KANK2","KREMEN1","KRT25","KRT71","KRT74","LIPH","LPAR6","LSS","LTV1","MAP2K2","MBTPS2","MPLKIP","NECTIN1","NECTIN4","NF1","NHP2","NOP10","ODC1","POLR3A","RECQL4","RMRP","RNU12","RNU4ATAC","RPL21","SF3B4","SMARCA2","SNRPE","SOX18","SPINK5","ST14","TCOF1","TP63","TRPS1","TSR2","TWIST2","TYMS","VAC14","WDR35","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DECREASED_LIGHT_AND_DARK_ADAPTED_ELECTRORETINOGRAM_AMPLITUDE":{"collection":"C5:HPO","systematicName":"M34864","pmid":"","exactSource":"HP:0000654","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000654","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_LIGHT_AND_DARK_ADAPTED_ELECTRORETINOGRAM_AMPLITUDE","geneSymbols":["ACOX1","ALG3","BEST1","CYP4V2","GUCY2D","IDH3B","IDS","LARGE1","LRAT","MCOLN1","POMGNT1","PPT1","RGR","RHO","SAG","USP45"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ECTROPION":{"collection":"C5:HPO","systematicName":"M34865","pmid":"","exactSource":"HP:0000656","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000656","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ECTROPION","geneSymbols":["AARS1","ABCA1","ABCA12","ABHD5","ADNP","ALOX12B","ALOXE3","APC","ASPRV1","CARD14","CARS1","CCDC47","CD28","CDC42","CDH1","CERS3","CTLA4","CTNND1","CYP4F22","DDB2","DHODH","DLX4","EDN1","ERCC2","ERCC3","ERCC4","ERCC5","ERCC6","FERMT1","FLI1","FOXC2","FOXL2","GATA1","GBA1","GRIA3","GTF2E2","GTF2H5","HNRNPK","IPO8","ITGA6","ITGB4","KDM6A","KMT2A","KMT2D","KRT10","LIPN","LRP4","MBTPS2","MEGF8","MPLKIP","NIPAL4","PLEC","PNPLA1","POLH","POLR3A","RIPK4","RNF113A","RNF2","RNU12","SDR9C7","SULT2B1","TARS1","TGM1","TNFRSF1B","TWIST2","UROD","UROS","XPA","XPC"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_OCULOMOTOR_APRAXIA":{"collection":"C5:HPO","systematicName":"M34866","pmid":"","exactSource":"HP:0000657","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000657","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OCULOMOTOR_APRAXIA","geneSymbols":["ABCA7","ABCD1","AFG3L2","AHI1","APP","APTX","ARL13B","ARL3","ARMC9","ATP1A2","ATP1A3","ATXN2","B9D1","B9D2","BCR","BLTP1","BRAF","CACNA1A","CACNA1G","CBY1","CC2D2A","CEP104","CEP120","CEP290","CEP41","CPLANE1","CRKL","CSPP1","CWF19L1","DLAT","DNM1L","EXOSC3","FA2H","GBA1","GPAA1","GRID2","H4C11","HECTD4","HYLS1","IFT172","IFT74","INPP5E","ITPR1","KATNIP","KCNH1","KDM1A","KIAA0586","KIAA0753","LAMA1","MAPK1","MAPT","MAST1","MKS1","MRE11","MYO9A","NGLY1","NPHP1","OFD1","PDE6D","PEX10","PEX2","PEX6","PGAP2","PGAP3","PIBF1","PIGL","PIGO","PIGV","PIGW","PIGY","PIK3R5","PMPCA","PNKP","PNPT1","PSEN1","PSEN2","RORA","RPGRIP1L","SETX","SLC1A3","SLC30A9","SORL1","SOX3","SPR","SQSTM1","STUB1","SUFU","TCTN1","TCTN2","TCTN3","TMEM107","TMEM138","TMEM216","TMEM218","TMEM231","TMEM237","TMEM67","TOE1","TOGARAM1","TOMM40","TPP1","TREM2","TUBA1A","TUBB2B","TUBB3","TUBB4A","TYROBP","UFC1","XRCC1","ZC4H2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_EYELID_APRAXIA":{"collection":"C5:HPO","systematicName":"M34867","pmid":"","exactSource":"HP:0000658","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000658","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EYELID_APRAXIA","geneSymbols":["ATP13A2","MAPT","PANK2","PLA2G6","SYNJ1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PETERS_ANOMALY":{"collection":"C5:HPO","systematicName":"M34868","pmid":"","exactSource":"HP:0000659","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000659","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PETERS_ANOMALY","geneSymbols":["B3GLCT","CDH2","CENPF","COX7B","CRPPA","CYP1B1","FKRP","FKTN","FOXC1","FOXE3","HCCS","LARGE1","MAF","NCAPG2","NDUFB11","PAX6","PITX2","PITX3","POMT1","POMT2","PRR12","RERE","TRIM44","WDR37"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LIPEMIA_RETINALIS":{"collection":"C5:HPO","systematicName":"M34869","pmid":"","exactSource":"HP:0000660","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000660","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIPEMIA_RETINALIS","geneSymbols":["APOC2","G6PC1","GPIHBP1","LPL","SLC37A4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NYCTALOPIA":{"collection":"C5:HPO","systematicName":"M34870","pmid":"","exactSource":"HP:0000662","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000662","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NYCTALOPIA","geneSymbols":["ABCA4","ADAM9","ADGRV1","AGBL1","AGBL5","AHI1","AHR","AIPL1","ARHGEF18","ARL2BP","ARL3","ARL6","ARSG","ATF6","BBS1","BBS2","BBS4","BEST1","C1QTNF5","CA4","CABP4","CACNA1F","CACNA2D4","CC2D2A","CCDC28B","CDH23","CDHR1","CEP78","CERKL","CFAP410","CFAP418","CHM","CIB2","CLCC1","CLEC3B","CLRN1","CNGA1","CNGA3","CNGB1","CNGB3","CNNM4","COG4","COL8A2","CRB1","CRX","CWC27","CYP4V2","DHDDS","DHX38","DPAGT1","DRAM2","ELOVL4","ESPN","EXOSC2","EYS","FAM161A","FGFR2","FLVCR1","FSCN2","GGCX","GNAT1","GNB3","GNS","GPR179","GRK1","GRM6","GUCA1A","GUCA1B","GUCY2D","HADHA","HARS1","HGSNAT","HK1","HKDC1","HSD3B7","IDH3A","IDH3B","IDS","IFT140","IFT172","IFT43","IFT88","IMPDH1","IMPG1","IMPG2","INPP5E","ITM2B","KCNJ13","KCNV2","KIAA1549","KIF3B","KIZ","KLHL7","LCA5","LRAT","LRIT3","MAK","MERTK","MFN2","MFRP","MMP19","MT-TS2","MTTP","MVK","MYO6","MYO7A","NEK2","NMNAT1","NR2E3","NRL","NYX","OAT","OFD1","OPN1LW","OPN1MW","PCARE","PCDH15","PDE6A","PDE6B","PDE6G","PDE6H","PDZD7","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PEX7","PHYH","PITPNM3","PLA2G5","POC1B","POMGNT1","POU3F4","PRCD","PROM1","PRPF3","PRPF31","PRPF4","PRPF6","PRPF8","PRPH2","RAB28","RAX2","RBP3","RBP4","RDH11","RDH12","RDH5","REEP6","RGR","RHO","RIMS1","RLBP1","RNU4ATAC","ROM1","RP1","RP1L1","RP2","RP9","RPE65","RPGR","RPGRIP1","SAG","SCAPER","SEMA4A","SLC24A1","SLC4A11","SLC7A14","SNRNP200","SPATA7","STIM1","TCF4","TIMP3","TLCD3B","TOPORS","TRAPPC9","TRNT1","TRPM1","TTC8","TTLL5","TTPA","TUB","TULP1","UNC119","USH1C","USH1G","USH2A","VPS13B","WDR19","WHRN","YARS1","ZEB1","ZNF408","ZNF513","ZPR1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HORIZONTAL_NYSTAGMUS":{"collection":"C5:HPO","systematicName":"M34871","pmid":"","exactSource":"HP:0000666","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000666","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HORIZONTAL_NYSTAGMUS","geneSymbols":["ADAR","AIFM1","ALDH18A1","ALG13","ALX4","ANO10","AP3B1","ARHGEF2","ASH1L","ATG5","ATP13A2","ATP1A2","BEAN1","BLOC1S3","BRAT1","CACNA1A","CACNA1G","CHD8","CNGB3","COL18A1","COQ5","COX15","CWF19L1","DAB1","DNM1L","DPP6","ERLIN2","EXOSC5","EXOSC9","FA2H","FAR1","FGF14","FOXG1","FRMD7","GATA3","GBA1","GCH1","GMPPA","GPR143","GRID2","GRIK2","GRM1","GRM6","HARS1","HMX1","HPS3","HPS4","HPS5","IARS2","IDH1","IMPDH2","IQSEC2","ITPR1","KCND3","KCNH1","KCNV2","KIF1C","KIF5A","LARGE1","LMNB1","LRP5","LYST","MAB21L1","MARS2","MRE11","MRPL12","MT-ATP6","NDUFAF2","NDUFS2","NEDD4L","NFIX","NMNAT1","NR4A2","NSUN2","NUP54","NUP62","OPA1","PAX7","PDGFRB","PET100","PEX16","PEX5","PIGL","PLP1","POLR3B","PRRT2","PSAP","RBL2","SACS","SCN1A","SIX6","SLC18A3","SLC35B2","SNIP1","SOX3","SPTBN2","SPTBN4","STUB1","SUPT16H","SURF1","SYT14","TAF2","TBC1D24","THG1L","TMEM106B","TMEM126A","TPP1","TRAPPC6B","TTBK2","TTR","UBA5","UROC1","XRCC1","ZNF408"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PHTHISIS_BULBI":{"collection":"C5:HPO","systematicName":"M34872","pmid":"","exactSource":"HP:0000667","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000667","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PHTHISIS_BULBI","geneSymbols":["ATOH7","BCOR","BRD4","CDH11","COL18A1","FZD4","HDAC8","HMX1","LRP5","MARK3","NDP","NIPBL","RAD21","SMC1A","SMC3","TMEM53"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPODONTIA":{"collection":"C5:HPO","systematicName":"M34873","pmid":"","exactSource":"HP:0000668","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000668","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPODONTIA","geneSymbols":["AARS1","ACOX1","ACTL6B","ADAMTS2","AP3B2","APC","APC2","ARL6","ARV1","ATP1A2","ATP1A3","ATP6V1A","ATP6V1B2","BAZ1B","BBS1","BCL11B","BCL7B","BUD23","CACNA1A","CACNA1B","CACNA2D1","CCDC28B","CDH1","CDK19","CELF2","CEP152","CEP85L","CFAP418","CHSY1","CKAP2L","CLDN1","CLIP2","CLTC","CNKSR2","CPLX1","CREBBP","CTBP1","CTC1","CTSK","CYFIP2","DALRD3","DDX59","DHDDS","DKC1","DNAJC21","DNAJC30","DNM1","DVL1","DVL3","DYNC2LI1","EDA","EDAR","EDARADD","EEF1A2","EIF4H","ELN","EP300","EVC","EVC2","FBXO28","FGD1","FGF10","FGF12","FGF13","FGF3","FGFR2","FGFR3","FGFRL1","FKBP6","FLNB","FOXC1","FZD2","FZR1","GABBR2","GABRA2","GABRA5","GABRB2","GABRG2","GDF5","GLI1","GRHL2","GRHL3","GRIN2D","GTF2I","GTF2IRD1","GTF2IRD2","HCN1","HECTD4","HMGA2","HSPA9","IFT122","IFT43","IFT52","IKBKG","IRF6","IRX5","KCNA2","KCNB1","KCNH1","KCNMA1","KCNN3","KDF1","KDM6A","KIF1C","KMT2A","KMT2D","LAMB3","LEMD2","LEMD3","LETM1","LIMK1","LMNA","LRP4","MAPK8IP3","MBTPS2","METTL27","MID1","MLXIPL","MSX1","MTX2","NCF1","NECAP1","NECTIN1","NELFA","NFKBIA","NHP2","NKX2-1","NOP10","NPM1","NSD1","NSD2","NTRK2","NUS1","NXN","OFD1","OTUD5","PACS2","PARN","PARS2","PERP","PIGG","PIGL","PIK3R1","PITX2","POLR1C","POLR3A","POLR3B","POLR3K","POP1","PORCN","PPP2R3C","PPP3CA","PRKACA","PRKACB","PRKAR1A","PTH1R","PUS7","RBM28","RFC2","RMRP","RNF13","ROR2","RPS6KA3","RTEL1","SCN3A","SCN8A","SCNM1","SCUBE3","SETD2","SLC13A5","SLC1A2","SLC38A3","SLC39A13","SMARCAL1","SMG8","STX1A","SYNGAP1","SYNJ1","SZT2","TBL2","TBX3","TERC","TERT","TINF2","TMEM270","TP63","TRAF6","TRAK1","TRIM37","TRPV3","TSPEAR","TWIST2","TYMS","UBA5","UBE3C","USB1","VPS37D","WDR19","WDR35","WNT10A","WNT5A","WRAP53","WWOX","XYLT1","YWHAG","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CARIOUS_TEETH":{"collection":"C5:HPO","systematicName":"M34874","pmid":"","exactSource":"HP:0000670","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000670","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CARIOUS_TEETH","geneSymbols":["AARS1","ABL1","ACP4","ADGRV1","ADNP","AGA","AKT1","ALDOB","ALPL","ANAPC1","AP3B1","APC","ARSB","ARVCF","ATP6V0A2","ATP6V1A","ATP6V1E1","ATR","B3GALT6","BAZ1B","BCL7B","BUD23","CARS1","CAV1","CCN2","CCR6","CDH1","CDH11","CDH3","CLCN7","CLIP2","CNNM4","COG6","COL17A1","COL2A1","COL3A1","COL7A1","COMT","COX4I2","CREBBP","CRLF1","CTC1","CTNND1","CTSK","DKC1","DNAJC21","DNAJC30","DPH5","EFL1","EIF4H","ELN","ENPP1","EP300","ERCC2","ERCC3","ERCC6","ERCC8","FAM111A","FERMT1","FGF10","FGF3","FGFR2","FGFR3","FKBP6","GALNS","GJA1","GLB1","GP1BB","GTF2E2","GTF2H5","GTF2I","GTF2IRD1","GTF2IRD2","HERC2","HIRA","HLA-DRB1","IFIH1","IFT52","IRF5","JMJD1C","KLK4","KMT2D","KRT14","LAMA3","LAMB3","LAMC2","LIFR","LIMK1","MAGEL2","MAPRE2","MBTPS2","MEGF8","METTL27","MKRN3","MLXIPL","MMP1","MMP13","MPLKIP","MYO7A","NCF1","NECTIN1","NHP2","NOP10","NPAP1","NPM1","OCRL","OFD1","PARN","PAX1","PDZD7","PEPD","PERP","PGM2L1","PKP1","PLEC","PPP1CB","PTCH1","PTCH2","PTEN","PWAR1","PWRN1","RBM28","RECQL4","RFC2","RNF113A","RREB1","RTEL1","RUNX2","SATB1","SBDS","SCNM1","SEC23A","SEC24C","SFRP4","SGMS2","SHOC2","SLC10A7","SLC24A4","SLC37A4","SLF2","SNORD115-1","SNORD116-1","SNRPB","SNRPN","SOX9","SRCAP","SRP54","STX1A","SUFU","TARS1","TBCE","TBL2","TBX1","TCIRG1","TERC","TERT","TGFB1","THOC6","TINF2","TMEM270","TNFSF11","TP63","TRPS1","TRPV3","TYMS","UBE3B","UFD1","USB1","USH2A","VDR","VPS37D","WHRN","WRAP53","ZMYM2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ANODONTIA":{"collection":"C5:HPO","systematicName":"M34875","pmid":"","exactSource":"HP:0000674","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000674","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANODONTIA","geneSymbols":["DCAF17","DVL1","DVL3","EDA","EDAR","EDARADD","ERCC1","ERCC4","ERCC6","ERCC8","FLNA","FZD2","GRHL3","IFT122","NECTIN1","RPS6KA3","WNT5A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MACRODONTIA_OF_PERMANENT_MAXILLARY_CENTRAL_INCISOR":{"collection":"C5:HPO","systematicName":"M41222","pmid":"","exactSource":"HP:0000675","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000675","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MACRODONTIA_OF_PERMANENT_MAXILLARY_CENTRAL_INCISOR","geneSymbols":["ATP6V1B2","BRF1","CACNA1I","COL11A1","CTCF","FARS2","GJA1","GRIA3","KCNMA1","PACS2","TBC1D24","VPS13B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_INCISOR":{"collection":"C5:HPO","systematicName":"M34876","pmid":"","exactSource":"HP:0000676","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000676","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_INCISOR","geneSymbols":["ABCC9","ALX3","ANKRD11","ARHGAP29","ARHGEF38","ATP6V1B2","ATR","ATRX","AXIN2","B3GLCT","BCOR","BLM","BMP4","BRF1","CACNA1I","CCBE1","CDC42BPB","CDH1","CDH11","CDON","CHSY1","CKAP2L","CNOT1","COBLL1","COL11A1","CREBBP","CTCF","DISP1","DLG1","DLL1","DLX3","DLX4","DNMT3A","DOCK7","DPH2","DYNC2LI1","EDA","EDARADD","EIF4A3","EP300","ERCC3","EVC","EVC2","FARS2","FGF3","FGF8","FGFR1","FGFR2","FOXH1","FREM1","GAS1","GATAD2B","GJA1","GLI1","GLI2","GRIA3","HMGB3","HRAS","IKBKG","IRF6","KAT6A","KCNK9","KCNMA1","LRP6","MID1","MSX1","NAA10","NECTIN1","NEK1","NHS","NODAL","PACS2","PAX9","PDGFRA","PLCH1","PRKACA","PRKACB","PTCH1","PURA","RIC1","RIPK4","RNF2","SCUBE3","SHH","SIX3","SMAD2","SMC1A","ST14","STAG1","STAG2","STIL","SUFU","SUMO1","TBC1D24","TBC1D2B","TDGF1","TGFA","TGIF1","TP63","TUBGCP2","VPS13B","WNT10A","WNT10B","ZIC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_OLIGODONTIA":{"collection":"C5:HPO","systematicName":"M34877","pmid":"","exactSource":"HP:0000677","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000677","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OLIGODONTIA","geneSymbols":["ADNP","ANKRD11","ATP6V1B2","AXIN2","BCL11B","BCOR","CCBE1","CEP152","CHSY1","CLDN1","CUX1","DVL1","DVL3","EDA","EDAR","EDARADD","FGFR1","FLNA","FZD2","HNRNPK","HUWE1","IKBKG","IRF6","KCNJ2","KCNJ5","KIFBP","KREMEN1","LRP6","LTBP3","MAF","MAP3K7","MSX1","NEPRO","PAX9","PIK3C2A","PITX2","POLR3A","POLR3B","POLR3GL","PORCN","PPP1R15B","PTH1R","PTHLH","RHOA","RPS6KA3","SATB2","SCUBE3","SH3BP2","SLC25A24","SMOC2","SRCAP","SRD5A3","SUMO1","TGFA","TP63","TRIO","TRMT10A","TSPEAR","UBR1","WNT10A","WNT10B","WNT5A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DENTAL_CROWDING":{"collection":"C5:HPO","systematicName":"M34878","pmid":"","exactSource":"HP:0000678","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000678","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DENTAL_CROWDING","geneSymbols":["ABL1","ACTA1","AMER1","AMMECR1","ANKH","ARL6","ASXL3","ATP6V1E1","ATR","BANF1","BBS1","BCOR","BMP2","C12orf57","CAMK2B","CBS","CCDC28B","CCDC47","COL1A2","COL3A1","COL5A1","CREBBP","DDR2","DHCR7","DSE","DVL1","EDN1","EDNRA","EMC10","EP300","FBN1","FGFR1","FGFR2","FLCN","FRAS1","FREM2","GJA1","GNAI3","GNB2","GRB10","GRIP1","H19","HACD1","HNRNPH1","IGF2","IL11RA","IL1RAPL1","IL6ST","INSR","ITGA7","KCNJ2","KCNJ5","KIDINS220","KIF15","LGI4","LMNA","LOX","MADD","MAP3K20","MASP1","MED12","MGAT2","MYH3","MYL2","MYMX","NAA10","NEDD4L","NONO","NOTCH3","NSDHL","OCRL","PCGF2","PEX6","PIGK","PLCB4","PLOD1","POLD1","PRMT7","PUS7","RECQL","ROR2","RPL10","RPS6KA3","SATB2","SCARF2","SCN4A","SCUBE3","SELENON","SET","SETBP1","SETD5","SHANK3","SMC1A","SMS","SNX14","SOBP","SOX5","SPECC1L","SPEN","TAB2","TAF6","TECPR2","TPM2","TPM3","TRIM37","TRIO","TRPS1","UPF3B","WNT5A","XYLT1","ZBTB7A","ZDHHC9","ZEB2","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DELAYED_ERUPTION_OF_PRIMARY_TEETH":{"collection":"C5:HPO","systematicName":"M34879","pmid":"","exactSource":"HP:0000680","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000680","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DELAYED_ERUPTION_OF_PRIMARY_TEETH","geneSymbols":["CAMK2B","CBFB","CTSK","DEAF1","EDNRA","ERCC1","ERCC4","ERCC6","ERCC8","FGFR2","FLII","IQSEC2","LEMD2","NDUFB11","RAI1","RUNX2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DELAYED_ERUPTION_OF_TEETH":{"collection":"C5:HPO","systematicName":"M34880","pmid":"","exactSource":"HP:0000684","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000684","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DELAYED_ERUPTION_OF_TEETH","geneSymbols":["ABCA5","ACP5","ADAMTS3","ADAMTSL1","AMER1","AMMECR1","ANAPC1","ANTXR1","APC2","ARID1A","ARID1B","ARID2","ARSB","ATP6V0A2","ATP6V1B2","AXIN2","BCOR","BRD4","CAMK2B","CBFB","CCBE1","CCDC8","CDH11","CHD7","CHST3","CLCN7","CRTAP","CTSK","CUL7","CYP27B1","CYP2R1","DEAF1","DMP1","DNAJC21","DPF2","DPYD","DVL1","DYNC2LI1","EDA","EDA2R","EDARADD","EDNRA","EFL1","ELMO2","ENPP1","ERCC1","ERCC4","ERCC6","ERCC8","EVC","EVC2","FAM20A","FAT4","FGD1","FGF3","FGFR1","FGFR2","FLII","FLNA","GDF5","GHR","GJA1","GLI1","GNAS","GNB2","GRHL2","HDAC4","HDAC8","IDS","IGF1","IKBKG","IL11RA","IL6ST","IQSEC2","IRF6","KAT6B","KCNH1","KCNJ2","KCTD1","LEMD2","LIG4","LMNA","LONP1","LRP6","MIA3","MMP2","MSX1","MYSM1","NAA10","NDUFB11","NIPBL","NPHS1","NSD1","NSUN2","OBSL1","OCRL","P4HB","PAPPA2","PAX9","PDE4D","PDGFRB","PIGA","PIGF","PIGL","PIK3R1","POLR3A","POLR3B","PORCN","PRKACA","PRKACB","PRKAR1A","PTCH1","PTHLH","RAD21","RAI1","RECQL","RECQL4","RIC1","ROR2","RPS6KA3","RUNX2","SATB1","SBDS","SEC23A","SEC24D","SEMA3E","SETBP1","SETD2","SFRP4","SH3PXD2B","SLC13A5","SLC1A2","SLC29A3","SLC37A4","SLC39A13","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SMC1A","SMC3","SNX10","SNX14","SOX11","SOX4","SP7","SRP54","STAT3","STX16","SUMO1","SUOX","TBC1D24","TCIRG1","TEKT3","TFAP2B","TGFA","TGFB1","THRA","TNFRSF11A","TNFSF11","TONSL","TRIO","TRIP11","TRPS1","TWIST2","UBR1","VDR","WNT10A","WNT10B","WNT5A","ZEB2","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPOPLASIA_OF_TEETH":{"collection":"C5:HPO","systematicName":"M34881","pmid":"","exactSource":"HP:0000685","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000685","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASIA_OF_TEETH","geneSymbols":["AARS1","ACP4","AIRE","ALDH3A2","AMBN","AMELX","ATR","AXIN2","C12orf57","CARS1","CEP152","CHD3","CLDN1","COG6","COL17A1","COL7A1","CREBBP","CSTB","CTBP1","CTSK","CYP27B1","CYP2R1","DDX59","DLX3","DNAJC21","EDA","EDAR","EDARADD","ENPP1","EP300","ERCC1","ERCC2","ERCC3","ERCC4","ERCC6","ERCC8","FAM20C","FBXO28","FGF10","FGFR1","FGFR2","FGFR3","FLNA","FLNB","GALNT3","GJA1","GNAS","GNB2","GRHL2","GTF2E2","GTF2H5","HECTD4","HLA-DQA1","HLA-DQB1","IFIH1","IFT122","IFT43","IRF6","IRX5","ITGA6","ITGB4","ITGB6","KCNJ2","KIF7","KRT14","KRT5","LAMA3","LAMB3","LAMC2","LMNA","LMX1B","LONP1","LRP4","LRP6","MED12","MMP1","MPLKIP","MSX1","NECTIN4","NEK1","NF1","NUP133","OCRL","ODAPH","OFD1","PAK2","PAX9","PCGF2","PCNT","PEX1","PGAP1","PIK3C2A","PLEC","PORCN","PPP1R15B","PTDSS1","RECQL4","RHOA","RNF113A","ROGDI","RUNX2","SATB1","SCUBE3","SEC23A","SLC10A7","SLC12A2","SLC35A2","SMARCA2","SMCHD1","SMOC2","SP6","STX16","SUMO1","TARS1","TGFA","TP63","TRIM37","TRMT10A","TTC7A","UBR1","VDR","WNT10A","WNT10B","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_WIDELY_SPACED_TEETH":{"collection":"C5:HPO","systematicName":"M34882","pmid":"","exactSource":"HP:0000687","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000687","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WIDELY_SPACED_TEETH","geneSymbols":["ACP4","ACVR1","ADNP","AFF3","AIMP2","AIP","ALX4","ARSK","ATP6V1B2","AXIN2","B3GLCT","BAP1","BCAS3","BRD4","CAMK2B","CCDC47","CDC42","CDC42BPB","CDH3","CDK19","CDK5RAP2","CERT1","CHD3","CHST3","CLP1","DLX3","DPH1","DPH2","DYRK1A","EDA","EDARADD","EIF2S3","ERCC1","ERCC4","ERCC6","ERCC8","FGF10","FGF3","FGFR1","GALNS","GJA5","GJA8","GLB1","GPR101","GUSB","H4C5","HDAC4","HDAC8","HK1","IDS","IFT122","IFT140","IFT43","IFT52","IRF6","KANSL1","KATNB1","KDM1A","KDM6A","KIAA0753","KMT2D","LARP7","LMBRD2","LRP6","LTBP3","MAN2B1","MAPK1","MBD5","MECP2","MED12","MED13L","MED27","MSX1","NAA20","NARS1","NDST1","NECTIN4","NIPBL","NONO","OCA2","PACS2","PAX9","PCGF2","PIGA","PIGL","PIGS","PPP1CB","PRKD1","PRR12","PTPRF","RAD21","RDH11","RHOBTB2","RLIM","RNF113A","RPS6KA3","SATB1","SETD1A","SHANK3","SMARCA2","SMC1A","SMC3","SNRPN","SSR4","SUMO1","TANC2","TBC1D24","TBCD","TBL1XR1","TBX4","TCF4","TGFA","TP63","TWIST2","UBE3A","WDR26","WDR35","WNT10A","WNT10B","ZEB2","ZNF526","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DENTAL_MALOCCLUSION":{"collection":"C5:HPO","systematicName":"M34883","pmid":"","exactSource":"HP:0000689","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000689","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DENTAL_MALOCCLUSION","geneSymbols":["ABCC9","ACP5","AGO2","AMELX","AMER1","ARHGAP29","ARHGEF38","ASPH","ATP6V1B2","ATR","AXIN2","BANF1","BAZ1B","BCL7B","BCOR","BMP2","BMP4","BRAF","BRCA1","BRF1","BUD23","CA2","CDC42","CDH1","CDH11","CHRNE","CHRNG","CLCN7","CLIP2","COBLL1","CREBBP","CTSK","DCHS1","DLG1","DLX4","DNAJC30","DOCK3","DPM2","DSPP","DVL1","DVL3","EDA","EDARADD","EDN1","EIF4H","ELN","ENAM","EP300","ERCC6","ERCC8","FAM83H","FAT4","FGFR1","FGFR2","FGFR3","FKBP6","FLCN","FLNA","FRAS1","FREM2","GFPT1","GJA1","GLI2","GNAI3","GNAS","GPC3","GPC4","GPR68","GRHL3","GRIP1","GTF2I","GTF2IRD1","GTF2IRD2","HNRNPK","HSPG2","IL11RA","IRF6","IRX5","ITGB6","KCNH1","KCNMA1","KCNN3","KDM6A","KLK4","LIMK1","LRP5","LRP6","MAP2K1","MARS1","MEGF8","METTL27","MLXIPL","MMP20","MSX1","MTM1","MYOD1","NCF1","NECTIN1","NOTCH2","OBSL1","PAX1","PAX9","PCGF2","PCYT1A","PDGFRA","PIK3R1","PLCB4","PLEKHM1","PORCN","PRKAR1A","PTPN11","PYROXD1","RDH11","RELT","RFC2","RHOA","RIC1","RPS6KA3","SATB2","SH3BP2","SH3PXD2B","SHANK3","SKI","SLC39A13","SMAD3","SMARCA2","SMCHD1","SOS1","SOST","STX1A","SUMO1","TBL2","TCF12","TCIRG1","TGFA","THOC6","TMEM270","TP63","TRIM37","TRPS1","TSPAN7","TTI2","TWIST2","VPS37D","WNT10A","WNT10B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MICRODONTIA":{"collection":"C5:HPO","systematicName":"M34884","pmid":"","exactSource":"HP:0000691","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000691","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MICRODONTIA","geneSymbols":["ADGRV1","ADNP","ANAPC1","ARID1B","ATP6V0A2","ATP6V1B2","AXIN2","B3GALT6","B3GAT3","BAZ1B","BCL11B","BCL7B","BUD23","C1R","C1S","CACNA1C","CCDC47","CDH11","CDH3","CDK13","CHST3","CHSY1","CKAP2L","CLIP2","COL3A1","CTCF","DLX3","DNAJC21","DNAJC30","DPF2","DYNC2LI1","EDA","EDA2R","EDAR","EDARADD","EIF4H","ELN","EVC","EVC2","EYA1","FAM20C","FBXO28","FGF10","FGF3","FGFR1","FGFR2","FGFR3","FKBP6","FOXC1","GHR","GJA1","GJA5","GJA8","GJB2","GLI1","GRB10","GREM2","GTF2I","GTF2IRD1","GTF2IRD2","H4C5","HEPHL1","HS2ST1","IDUA","IFT122","IFT140","IFT43","IFT52","IRF6","KAT6B","KDM6A","KIAA0753","KMT2D","LAMB3","LIMK1","LMBRD2","LRP6","LTBP3","MAPK1","MAPRE2","MBD5","MCOLN1","MED12","METTL27","MLXIPL","MSX1","MYO7A","NCF1","NECTIN1","NFIX","NHP2","NOP10","ORC1","P4HB","PAX9","PCGF2","PCNT","PDZD7","PIGA","PIGF","PIGL","PIK3C2A","PIK3R1","PITX2","PLXNA1","PLXND1","PRIM1","PRKACA","PRKACB","PRKD1","RBBP8","RECQL4","REV3L","RFC2","RHOA","RMRP","SATB2","SCNM1","SEC23A","SIX1","SLC25A24","SMARCA2","SMARCAL1","SMC3","SMOC2","SNRPN","SRCAP","STX1A","SUMO1","TBL2","TCF12","TFAP2A","TGFA","TMCO1","TMEM270","TONSL","TP63","TRPS1","TWIST2","UBE3B","UBR1","USH2A","VPS37D","WDR19","WDR35","WDR4","WHRN","WNT10A","WNT10B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_TOOTH_MALPOSITION":{"collection":"C5:HPO","systematicName":"M34885","pmid":"","exactSource":"HP:0000692","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000692","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TOOTH_MALPOSITION","geneSymbols":["ABCC9","ABL1","ACP4","ACP5","ACTA1","ACTL6B","ACVR1","ADAMTS10","ADAMTS2","ADNP","AEBP1","AFF3","AGO2","AIMP2","AIP","ALKBH8","ALX3","ALX4","AMELX","AMER1","AMMECR1","ANKH","ANKRD11","ARHGAP29","ARHGEF38","ARL6","ARSK","ASPH","ASXL3","ATP6V1B2","ATP6V1E1","ATR","ATRX","AXIN2","B3GLCT","BANF1","BAP1","BAZ1B","BBS1","BCAS3","BCL7B","BCOR","BMP2","BMP4","BPTF","BRAF","BRCA1","BRD4","BRF1","BUD23","C12orf57","CA2","CAMK2B","CBS","CCDC28B","CCDC47","CDC42","CDC42BPB","CDH1","CDH11","CDH3","CDK19","CDK5RAP2","CERT1","CHD3","CHRNE","CHRNG","CHST3","CHSY1","CLCN7","CLIP2","CLP1","CNOT2","COBLL1","COL1A2","COL3A1","COL5A1","CREBBP","CTSK","CUL4B","DCHS1","DDR2","DHCR7","DLG1","DLX3","DLX4","DNAJC30","DNMT3A","DOCK3","DOCK7","DPH1","DPH2","DPM2","DSE","DSPP","DVL1","DVL3","DYRK1A","EDA","EDARADD","EDN1","EDNRA","EIF2S3","EIF4H","ELN","EMC10","ENAM","EP300","ERCC1","ERCC4","ERCC6","ERCC8","EXOSC5","EYA1","FAM83H","FAT4","FBN1","FGF10","FGF3","FGFR1","FGFR2","FGFR3","FKBP6","FLCN","FLNA","FRAS1","FREM1","FREM2","FZD2","GALNS","GATAD2B","GFPT1","GJA1","GJA5","GJA8","GLB1","GLI2","GNAI3","GNAS","GNB2","GPC3","GPC4","GPR101","GPR68","GRB10","GRHL3","GRIP1","GTF2I","GTF2IRD1","GTF2IRD2","GUSB","H19","H4C5","HACD1","HDAC4","HDAC8","HIVEP2","HK1","HMGB3","HNRNPH1","HNRNPK","HRAS","HSPG2","IDS","IFT122","IFT140","IFT43","IFT52","IFT57","IGF2","IL11RA","IL1RAPL1","IL6ST","INSR","IRF6","IRX5","ITGA7","ITGB6","KANSL1","KATNB1","KCNH1","KCNJ2","KCNJ5","KCNMA1","KCNN3","KDM1A","KDM5C","KDM6A","KIAA0753","KIDINS220","KIF15","KLK4","KMT2D","LARP7","LGI4","LIMK1","LMBRD2","LMNA","LOX","LRP5","LRP6","LTBP3","MADD","MAN2B1","MAP2K1","MAP3K20","MAP3K7","MAPK1","MARS1","MASP1","MBD5","MECP2","MED12","MED13L","MED27","MEGF8","METTL27","MGAT2","MLXIPL","MMP20","MSX1","MTM1","MYH3","MYL2","MYMX","MYOD1","NAA10","NAA20","NARS1","NCF1","NDST1","NECTIN1","NECTIN4","NEDD4L","NHS","NIPBL","NONO","NOTCH2","NOTCH3","NSDHL","NXN","OBSL1","OCA2","OCRL","OFD1","PACS1","PACS2","PAX1","PAX9","PCGF2","PCYT1A","PDE4D","PDGFRA","PEX6","PIGA","PIGK","PIGL","PIGS","PIK3R1","PLCB4","PLEKHM1","PLOD1","POLD1","POLR1B","POLR1C","POLR1D","POLR2A","PORCN","PPP1CB","PRKACA","PRKAR1A","PRKD1","PRMT7","PRR12","PSMD12","PTEN","PTH1R","PTPN11","PTPRF","PUS7","PYROXD1","RAB3GAP1","RAB3GAP2","RAD21","RAI1","RDH11","RECQL","RELT","RFC2","RHOA","RHOBTB2","RIC1","RLIM","RNF113A","RNF2","ROR2","RPL10","RPS6KA3","RUNX2","SATB1","SATB2","SCARF2","SCN4A","SCUBE3","SELENON","SET","SETBP1","SETD1A","SETD5","SH3BP2","SH3PXD2B","SHANK3","SIX1","SKI","SLC39A13","SMAD3","SMARCA2","SMARCD2","SMC1A","SMC3","SMC5","SMCHD1","SMS","SNRPN","SNX14","SOBP","SOS1","SOST","SOX5","SPART","SPECC1L","SPEN","SSR4","STAG1","STX1A","SUMO1","TAB2","TAF6","TANC2","TBC1D24","TBC1D2B","TBCD","TBL1XR1","TBL2","TBX4","TCF12","TCF4","TCIRG1","TCOF1","TECPR2","TGFA","THOC6","TMEM270","TP63","TPM2","TPM3","TRIM37","TRIO","TRPS1","TSPAN7","TTI2","TUBGCP2","TWIST1","TWIST2","UBE3A","UBE3B","UPF3B","USP9X","VPS37D","WDR26","WDR35","WNT10A","WNT10B","WNT5A","XRCC4","XYLT1","ZBTB7A","ZDHHC9","ZEB2","ZMPSTE24","ZNF526","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NATAL_TOOTH":{"collection":"C5:HPO","systematicName":"M34886","pmid":"","exactSource":"HP:0000695","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000695","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NATAL_TOOTH","geneSymbols":["AMER1","BCL11B","C2CD3","CEP120","CILK1","CREBBP","DPH1","DSP","EHMT1","EP300","EVC","EVC2","FAM20C","FGFR2","FLNA","GLI3","GTF2H5","INTU","JUP","KDF1","KDM6A","KMT2C","KMT2D","KRT16","KRT17","KRT6A","KRT6B","LMNA","MID1","MKS1","NEK1","POLR3A","POLR3B","PTH1R","SPECC1L","VARS1","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DELAYED_ERUPTION_OF_PERMANENT_TEETH":{"collection":"C5:HPO","systematicName":"M34887","pmid":"","exactSource":"HP:0000696","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000696","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DELAYED_ERUPTION_OF_PERMANENT_TEETH","geneSymbols":["ADAMTSL1","APC2","ATP6V1B2","AXIN2","CTSK","EDA","EDARADD","FAM20A","FGFR1","GJA1","IRF6","KCNJ2","LRP6","MIA3","MSX1","NPHS1","NSD1","PAX9","PIGF","RECQL","ROR2","RUNX2","SETD2","SLC37A4","SMARCB1","SOX4","SUMO1","TBC1D24","TEKT3","TFAP2B","TGFA","TONSL","WNT10A","WNT10B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CONICAL_TOOTH":{"collection":"C5:HPO","systematicName":"M34888","pmid":"","exactSource":"HP:0000698","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000698","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONICAL_TOOTH","geneSymbols":["ALX4","ANAPC1","ARHGAP29","ARHGEF38","ARID1B","ATP6V0A2","ATP6V1B2","ATR","AXIN2","B3GLCT","BMP4","CCBE1","CDH1","COBLL1","CTNND1","DHODH","DLG1","DLX4","DYNC2LI1","EDA","EDAR","EDARADD","EVC","EVC2","FGF3","FGFR1","FGFR2","FGFR3","GLI1","IKBKG","IRF6","KAT6A","LRP6","MSX1","NECTIN1","NECTIN4","NEK1","NFKBIA","PAX9","PDGFRA","PRKACA","PRKACB","RHOA","RIC1","RUSC2","SATB2","SMARCD2","ST14","SUMO1","TGFA","TP63","TSPEAR","WNT10A","WNT10B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DIASTEMA":{"collection":"C5:HPO","systematicName":"M34889","pmid":"","exactSource":"HP:0000699","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000699","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DIASTEMA","geneSymbols":["ABCC9","ACTL6B","ALX3","ANKRD11","ARSK","ATRX","CHSY1","DNMT3A","FREM1","GATAD2B","HMGB3","HRAS","IFT57","KCNMA1","KDM5C","MGAT2","NHS","PACS1","PRKACA","RDH11","RNF2","SMC5","STAG1","TCF12","TUBGCP2","UBE3B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PERIODONTITIS":{"collection":"C5:HPO","systematicName":"M34890","pmid":"","exactSource":"HP:0000704","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000704","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERIODONTITIS","geneSymbols":["AEBP1","AP3B1","C1R","C1S","CAT","CLPB","COL3A1","CTC1","CTSC","CXCR4","DKC1","ELANE","FERMT1","FGF3","GFI1","GORAB","ITGB2","LYST","MIA3","NHP2","NOP10","NOTCH2","NPM1","OCRL","PARN","PLG","RTEL1","SLC35C1","SLC37A4","SRP19","SRP54","TCIRG1","TERC","TERT","TINF2","TYMS","USB1","WRAP53"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_AMELOGENESIS_IMPERFECTA":{"collection":"C5:HPO","systematicName":"M34891","pmid":"","exactSource":"HP:0000705","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000705","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AMELOGENESIS_IMPERFECTA","geneSymbols":["ACP4","AMBN","AMELX","AMTN","CLDN19","CNNM4","DLX3","DNAJC21","ENAM","FAM20A","FAM83H","GPR68","ITGB6","KLK4","LAMA3","LAMB3","LTBP3","MMP20","ODAPH","ORAI1","PEX1","PEX6","RELT","ROGDI","SATB1","SLC10A7","SLC13A5","SLC24A4","SMARCD2","SP6","STIM1","TMEM165","WDR72"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ERUPTION_FAILURE":{"collection":"C5:HPO","systematicName":"M34892","pmid":"","exactSource":"HP:0000706","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000706","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ERUPTION_FAILURE","geneSymbols":["ANTXR1","APC","CDH11","FGFR1","FLNA","FLNB","HOXD13","IFIH1","LEMD2","LMNA","MAP3K7","PTH1R","SH3BP2","SMCHD1","TCF4","TRIO","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PSYCHOSIS":{"collection":"C5:HPO","systematicName":"M34893","pmid":"","exactSource":"HP:0000709","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000709","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PSYCHOSIS","geneSymbols":["AARS2","ABCD1","ACADS","AIP","ALDH18A1","ALDH4A1","ALDH5A1","ARMC5","ATP13A2","ATRX","ATXN7","BRAF","CABP4","CACNA1A","CBS","CDH23","CHMP2B","CHRNA2","CHRNA4","CHRNB2","CLN3","CPOX","CRH","CTLA4","DCAF17","DEPDC5","DNASE1","DNMT1","EIF3F","EPM2A","FAR1","FCGR2A","FCGR2B","FIG4","FRRS1L","FTL","GCLC","GNAS","GRIN2A","GRN","GSS","H4C3","HERC2","HMBS","IRAK1","ITM2B","JARID2","KCNN2","KCNT1","MAGEL2","MAPT","MECP2","MED12","MKRN3","MMACHC","MT-CO1","MT-CO2","MT-CO3","MT-ND1","MT-ND4","MT-ND5","MT-ND6","MT-TF","MT-TH","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TW","MTHFR","MYORG","NAGS","NDN","NDP","NHLRC1","NOTCH3","NPAP1","NPC1","NPC2","NR3C1","OCA2","PAH","PAK3","PANK2","PARK7","PCDH19","PDE11A","PDGFB","PDGFRB","PIDD1","PITRM1","PPOX","PRDM8","PRKAR1A","PRNP","PRORP","PSEN1","PTPN22","PUS3","PWAR1","PWRN1","RPS6KA3","SAT1","SIM1","SLC12A6","SLC20A2","SLC25A13","SLC6A19","SLC7A7","SNORD115-1","SNORD116-1","SNORD118","SNRPN","SOBP","SPART","SPG11","SPP1","SQSTM1","SRCAP","STAT4","TBC1D7","TMEM106B","TP53","TREM2","TREX1","TRRAP","TTC19","TWNK","UPF3B","USP48","USP8","VCP","VPS13A","WARS2","WFS1","ZDHHC9","ZFYVE26","ZMYM2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPERORALITY":{"collection":"C5:HPO","systematicName":"M41223","pmid":"","exactSource":"HP:0000710","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000710","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERORALITY","geneSymbols":["ATP10A","CHMP2B","CRLS1","DCTN1","GRN","MAPT","PRNP","PSEN1","SHANK3","SNRPN","SQSTM1","TMEM106B","TREM2","UBE3A","VCP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RESTLESSNESS":{"collection":"C5:HPO","systematicName":"M34894","pmid":"","exactSource":"HP:0000711","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000711","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RESTLESSNESS","geneSymbols":["ABCA7","ABCC8","ACAT1","ADA2","ADCY5","AFF2","ALAD","ALDH7A1","AMT","ANG","ANXA11","APP","ATP6V0A1","ATXN2","BRAT1","CACNA1A","CCNF","CDKL5","CFAP410","CHCHD10","CHMP2B","CLCN3","CLN8","COX10","CTNNB1","CYP27A1","DAO","DCDC2","DCTN1","DCX","DEAF1","DNAJC13","DNAJC6","DNM1L","ECE1","EIF2S3","EIF4G1","EPHA4","ERBB4","FGF12","FIG4","FUS","GABBR2","GBA1","GIGYF2","GLDC","GLE1","GLS","GLT8D1","GNAS","GNS","GRN","H4C5","HMBS","HNF1A","HNF4A","HNRNPA1","HPD","HSD17B10","HTRA2","HTT","IGF1R","KCNJ11","KDM5C","KIF11","LRRK2","LSS","MAPT","MATR3","MECP2","MED13L","NAGS","NAXE","NDST1","NEFH","NEK1","NGLY1","NTNG1","OPTN","PAK3","PARK7","PDE11A","PFN1","PINK1","PLPBP","PODXL","PON1","PON2","PON3","PPARGC1A","PRKAR1A","PRKN","PRNP","PRPH","PSEN1","PSEN2","PTS","RNF13","SATB1","SATB2","SLC19A3","SLC25A13","SLC2A3","SMC1A","SNCA","SOD1","SORL1","SPAST","SPTBN1","SQSTM1","SRCAP","SUOX","SYNJ1","TAF15","TARDBP","TBK1","TMEM106B","TMEM67","TOMM40","TRANK1","TREM2","TSEN54","TSHR","UBQLN2","UCHL1","UCP2","UNC13A","UQCRQ","VAPB","VCP","VPS13C","VPS35","WAC","ZBTB20"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_EMOTIONAL_LABILITY":{"collection":"C5:HPO","systematicName":"M34895","pmid":"","exactSource":"HP:0000712","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000712","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EMOTIONAL_LABILITY","geneSymbols":["AIP","AKT1","ANG","ANXA11","ARMC5","ARSA","ATP1A2","ATP1A3","ATRX","ATXN2","B4GALNT1","BAP1","BCS1L","BPTF","BRAF","BSND","C19orf12","CACNA1A","CASR","CCNF","CDH23","CFAP410","CHCHD10","CHMP2B","CLCNKA","CLCNKB","CLTRN","CREBBP","CTSF","CUL4B","DAO","DCTN1","DDC","DEAF1","DGCR2","DGCR6","DGCR8","EIF2B1","ELP1","EP300","EPHA4","EPM2A","ERBB4","ESS2","FIG4","FMO3","FTL","FUS","GABRG2","GALC","GLE1","GLT8D1","GNA11","GNAS","GRIK2","GRIN2A","HDAC8","HLA-DQB1","HLA-DRB1","HNRNPA1","HTRA1","LAS1L","LEPR","MAPK8IP3","MATR3","MECP2","MED12","MIR17HG","MTPAP","NAGS","NEFH","NEK1","NF2","NHLRC1","NOTCH3","NR3C1","NTRK1","OPTN","PANK2","PDCD1","PDCD6IP","PDE11A","PDGFB","PFN1","PGK1","PIK3CA","PLA2G6","POLG","PON1","PON2","PON3","PPARGC1A","PRKACA","PRKAR1A","PRNP","PRPH","PSAP","PSMD12","RFX7","RNF125","RNF168","SARDH","SATB2","SLC1A3","SLC39A4","SLC6A17","SLC6A19","SMARCB1","SMARCE1","SMO","SNORD118","SOD1","SPART","SPG11","SPTBN1","SQSTM1","SRPX2","SUFU","TAF15","TARDBP","TBK1","TBX1","TDO2","TERT","TNIK","TP53","TRAF7","TREM2","TUBB3","TWNK","UBQLN2","UNC13A","USP48","USP8","VAPB","VCP","VPS13A","ZFYVE26"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_AGITATION":{"collection":"C5:HPO","systematicName":"M43257","pmid":"","exactSource":"HP:0000713","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000713","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AGITATION","geneSymbols":["ABCA7","ABCC8","ACAT1","ADA2","ADCY5","AFF2","ALAD","ANG","ANXA11","APP","ATP6V0A1","ATXN2","BRAT1","CACNA1A","CCNF","CDKL5","CFAP410","CHCHD10","CHMP2B","COX10","CYP27A1","DAO","DCDC2","DCTN1","DCX","DEAF1","DNAJC13","DNAJC6","ECE1","EIF2S3","EIF4G1","EPHA4","ERBB4","FGF12","FIG4","FUS","GABBR2","GBA1","GIGYF2","GLE1","GLS","GLT8D1","GNAS","GNS","GRN","H4C5","HNF1A","HNF4A","HNRNPA1","HSD17B10","HTRA2","HTT","IGF1R","KCNJ11","KIF11","LRRK2","LSS","MATR3","MECP2","MED13L","NAGS","NDST1","NEFH","NEK1","NTNG1","OPTN","PAK3","PARK7","PDE11A","PFN1","PINK1","PODXL","PON1","PON2","PON3","PPARGC1A","PRKAR1A","PRKN","PRPH","PSEN1","PSEN2","PTS","SATB1","SLC2A3","SMC1A","SNCA","SOD1","SORL1","SPAST","SPTBN1","SQSTM1","SUOX","SYNJ1","TAF15","TARDBP","TBK1","TMEM67","TOMM40","TRANK1","TREM2","TSHR","UBQLN2","UCHL1","UCP2","UNC13A","VAPB","VCP","VPS13C","VPS35","WAC"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DEPRESSION":{"collection":"C5:HPO","systematicName":"M34896","pmid":"","exactSource":"HP:0000716","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000716","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEPRESSION","geneSymbols":["AARS2","ABCA7","ABCB11","ABCB4","ADGRV1","ADH1C","AFG3L2","AIP","ALAD","ALDH4A1","AMACR","ANG","ANXA11","AOPEP","AP1G1","AP2S1","AR","ARMC5","ARSA","ARSG","ARVCF","ATP13A2","ATP1A3","ATP7B","ATP8B1","ATP9A","ATRX","ATXN10","ATXN2","ATXN8OS","BANK1","BAZ1B","BCL7B","BCR","BCS1L","BLK","BMPR1A","BRAF","BUD23","C19orf12","C4A","C4B","C9orf72","CABP4","CACNA1G","CACNA1H","CACNA1I","CARS1","CASR","CBS","CCNF","CDH23","CDKN1A","CDKN1B","CDKN2B","CDKN2C","CDON","CEACAM3","CEACAM6","CEP78","CEP85L","CFAP410","CFTR","CHCHD10","CHCHD2","CHD7","CHMP2B","CHRNA2","CHRNA4","CHRNB2","CIB2","CISD2","CLCA4","CLCN4","CLIP2","CLN3","CLN6","CLRN1","COASY","COL7A1","COMT","COQ2","CPOX","CR2","CRH","CRKL","CSF1R","CTLA4","CTSF","CYP27A1","DAO","DCTN1","DCTN4","DEPDC5","DGUOK","DISP1","DLL1","DNA2","DNAJC13","DNAJC30","DNAJC5","DNAJC6","DNASE1","DNMT1","DRD2","DUSP6","EDNRA","EHMT1","EIF4G1","EIF4H","ELN","EPCAM","EPHA4","EPM2A","ERBB4","ESPN","ETS1","FA2H","FAN1","FCGR2B","FCGR3B","FGF14","FGF17","FGF8","FGFR1","FIG4","FKBP5","FKBP6","FLT4","FMO3","FMR1","FOXH1","FUS","GABRA1","GABRB3","GABRG2","GALT","GAS1","GBA1","GCH1","GCLC","GDAP2","GIGYF2","GLA","GLE1","GLI2","GLT8D1","GLUD2","GNA11","GNAS","GNRH1","GNRHR","GP1BB","GPR101","GPR35","GRIN2A","GRN","GSN","GSTM3","GTF2I","GTF2IRD1","GTF2IRD2","HARS1","HFE","HIRA","HLA-B","HLA-DQA1","HLA-DQB1","HLA-DRB1","HMBS","HMOX1","HNRNPA1","HS6ST1","HTR2A","HTRA2","HTT","IDUA","IFNG","IGHG1","IL10","IMPDH2","IRAK1","IRF4","IRF5","ITGAM","JAZF1","JMJD1C","JPH3","JRK","KCNJ2","KCNN4","KCNT1","KCTD17","KIAA0319L","KISS1","KISS1R","KMT2B","KRAS","LGI1","LIMK1","LMNB1","LRRK2","MAMLD1","MAN2B1","MAPK1","MAPT","MATR3","MECP2","MEN1","METTL27","MIF","MLH1","MLH3","MLXIPL","MMP1","MSH2","MSH6","MST1","MSTO1","MT-CO1","MT-CO2","MT-CO3","MT-ND1","MT-ND4","MT-ND5","MT-ND6","MT-TF","MT-TH","MT-TL1","MT-TL2","MT-TN","MT-TQ","MT-TS1","MT-TS2","MT-TT","MT-TW","MYO7A","NCF1","NEFH","NEK1","NHLH2","NHLRC1","NODAL","NOTCH3","NR1H4","NR3C1","NR4A2","NSMF","OCRL","OPTN","P4HA2","PAH","PANK2","PARK7","PCDH15","PDCD1","PDE11A","PDGFB","PDGFRB","PDZD7","PER2","PER3","PFN1","PIK3CA","PINK1","PLA2G6","PLCH1","PLP1","PMS1","PMS2","PODXL","POLG","POLG2","PON1","PON2","PON3","PPARGC1A","PPP2R2B","PPT1","PRKACA","PRKAR1A","PRKCG","PRKN","PRNP","PROK2","PROKR2","PRPH","PSAP","PSEN1","PTCH1","PTPN22","PTS","PXK","RELN","RFC2","RPS20","RPS6KA3","RREB1","RRM2B","SDHA","SEC24C","SEMA4A","SEMA4D","SERPINA1","SGCE","SHH","SIX3","SLC11A1","SLC20A2","SLC25A4","SLC26A9","SLC2A1","SLC2A3","SLC6A14","SLC6A4","SLC7A6OS","SLC9A3","SMC1A","SMPD1","SNCA","SNCAIP","SOD1","SPAST","SPP1","SPRY4","SPTBN1","SQSTM1","SRPX2","STAG2","STAT4","STIL","STUB1","STX16","STX1A","SYNJ1","TAC3","TACR3","TAF15","TARDBP","TBC1D7","TBK1","TBL2","TBP","TBX1","TCF4","TDGF1","TDO2","TET3","TGFB1","TGFBR2","TGIF1","THOC2","TK2","TLR7","TMEM106B","TMEM270","TNFAIP3","TNFSF4","TNIP1","TOR1A","TP53","TPH2","TRANK1","TREM2","TREX1","TRHR","TSC1","TSC2","TSHB","TTC19","TWNK","UBE2L3","UBQLN2","UCHL1","UFD1","UNC13A","UQCRC1","USH1C","USH1G","USH2A","USP48","USP8","VAPB","VCP","VPS13A","VPS13C","VPS35","VPS37D","WARS2","WDR11","WFS1","WHRN","XK","XPR1","ZIC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_AUTISM":{"collection":"C5:HPO","systematicName":"M34897","pmid":"","exactSource":"HP:0000717","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000717","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AUTISM","geneSymbols":["AARS1","ACTL6B","ADNP","ADSL","AHDC1","AKT1","ALAD","ALDH5A1","ALG13","ALG14","ANKRD11","AP3B2","ARCN1","ARNT2","ARV1","ARVCF","ASXL3","ATP1A2","ATP1A3","ATP6V1A","ATRX","BAZ1B","BCKDK","BCL7B","BRD4","BUD23","CACNA1A","CACNA1B","CACNA1C","CACNA2D1","CASZ1","CDK13","CDK19","CELF2","CHD1","CHD7","CHD8","CHRNA7","CLIP2","CLTC","CNKSR2","CNTNAP2","COMT","CREBBP","CYFIP2","CYP27A1","DALRD3","DEAF1","DHCR7","DHDDS","DICER1","DNAJC30","DNM1","DOCK7","DPAGT1","DPYD","DYRK1A","EEF1A2","EHMT1","EIF4H","ELN","EP300","EXT2","FBXO28","FGF12","FGF13","FGFR1","FKBP6","FLCN","FLG","FMR1","FOXG1","FTCD","FTSJ1","FZR1","GABBR2","GABRA2","GABRA5","GABRB2","GABRD","GABRG2","GAMT","GATM","GJA5","GJA8","GLRA2","GNB1","GP1BB","GRIA3","GRIN2D","GTF2I","GTF2IRD1","GTF2IRD2","H4C5","HCN1","HDAC4","HDAC8","HECTD4","HERC2","HESX1","HIRA","HNF1B","HSPG2","IFNG","IL1RAPL1","IQSEC2","JMJD1C","KCNA2","KCNAB2","KCNB1","KDM5C","KLLN","KMT2A","LHX1","LIMK1","LUZP1","MAGEL2","MAN1B1","MAOA","MECP2","MED12","MED13L","MEIS2","METTL27","MKRN3","MLXIPL","MMP23B","NAA20","NAGA","NCF1","NDN","NDP","NECAP1","NFIB","NHS","NIPA1","NIPA2","NIPBL","NLGN3","NONO","NPAP1","NR2F1","NTRK2","NUS1","OCA2","OTX2","PACS2","PAH","PAK2","PARS2","PDE4D","PDPN","PIGL","PIK3CA","PLXND1","PPP3CA","PRDM16","PRKCZ","PROKR2","PTCHD1","PTEN","PWAR1","PWRN1","RAD21","RAI1","RERE","REV3L","RFC2","RPL10","RREB1","SATB1","SATB2","SCN2A","SCN3A","SCN8A","SDHB","SDHC","SDHD","SEC23B","SEC24C","SEMA3E","SETD2","SH2B1","SHANK3","SIN3A","SKI","SLC13A5","SLC1A2","SLC35C1","SLC38A3","SLC9A6","SMAD4","SMC1A","SMC3","SNORD115-1","SNORD116-1","SNRPN","SOX2","SOX3","SPEN","SPTBN1","STS","STX1A","SUPT16H","SYNGAP1","SYNJ1","SZT2","TAOK1","TBCK","TBL2","TBR1","TBX1","TCF12","TMEM270","TMLHE","TRAK1","TSC1","TSC2","TUBG1","UBA5","UBE3A","UBE4B","UFD1","USF3","VPS37D","WFS1","WWOX","YWHAG","YY1","ZBTB20"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_AGGRESSIVE_BEHAVIOR":{"collection":"C5:HPO","systematicName":"M34898","pmid":"","exactSource":"HP:0000718","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000718","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AGGRESSIVE_BEHAVIOR","geneSymbols":["ABCA2","ADAT3","ADNP","ADSL","AFF2","AGO1","AGO2","ALDH4A1","ALDH5A1","ALG14","AMT","ANK3","AP1G1","AP1S2","APC2","ARID1A","ARID1B","ARID2","ARPC4","ATP13A2","ATP1A2","ATP1A3","ATP7B","ATP9A","ATXN10","BCAP31","BCOR","BCORL1","BPTF","BRF1","C12orf4","CACNA1A","CACNB4","CAMK2B","CAMTA1","CDC42BPB","CEP152","CEP290","CEP85L","CHD2","CHD5","CHD8","CHKA","CHMP2B","CILK1","CLCN2","CLCN4","CLN3","CLN5","CNTNAP2","CREBBP","CTNNB1","CUL4B","CUX2","CYP27A1","DCDC2","DDX3X","DEAF1","DGCR2","DGCR6","DGCR8","DHCR7","DNM1","DNMT3A","DPAGT1","DPF2","DPYD","DPYSL5","DYNC1I2","DYRK1A","EBP","ECM1","EEF1A2","EFHC1","EHMT1","EIF2S3","ELP2","ENTPD1","EP300","ESS2","FBXL3","FBXW11","FGF14","FIG4","FMO3","FMR1","FOXG1","FOXP1","FRMPD4","FRRS1L","FTSJ1","GABRA1","GABRB3","GABRD","GAMT","GDAP2","GLDC","GNB1","GNS","GRIA3","GRIK2","GRIN2A","GRN","HDAC4","HDC","HECTD4","HEPHL1","HERC2","HIVEP2","HNRNPH2","HSD17B10","HTRA1","HTT","IFNG","IMPA1","INPP5E","IQSEC1","IQSEC2","JARID2","JRK","KCNQ3","KCNT1","KDM3B","KDM4B","KDM5B","KDM5C","KIF11","KMT2A","KMT2E","KMT5B","KNL1","LEPR","LINGO1","LINS1","LMAN2L","MAB21L1","MAN1B1","MANBA","MAOA","MAPK1","MAPK10","MAPT","MBD5","MECP2","MED12","MED12L","MED13L","MED25","METTL5","MGAT2","MYT1L","NAA10","NAGLU","NAGS","NAXD","NBEA","NDP","NDST1","NEXMIF","NFASC","NFIB","NKAP","NONO","NRCAM","NSD1","NSD2","NSDHL","OCRL","ODC1","PACS1","PAH","PAK3","PCDH19","PDE2A","PGM2L1","PHIP","PIDD1","PIGH","PIGY","PLA2G6","POGZ","POU4F1","PPP2R5D","PRKAR1B","PRNP","PRODH","PRRT2","PSEN1","PSMB1","PSMD12","PTCHD1","PUS3","PUS7","PYCR2","RBBP8","RFX7","RLIM","RORB","RUSC2","SARS1","SASS6","SATB2","SCN1A","SETBP1","SETD1A","SETD2","SH2B1","SHANK3","SHMT2","SIN3A","SLC1A3","SLC25A13","SLC2A1","SLC2A3","SLC52A2","SLC6A17","SLC6A8","SLITRK1","SLITRK2","SMARCA2","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SOX11","SOX4","SOX5","SPAST","SPEN","SPR","SPTBN1","SQSTM1","SRCAP","STEEP1","STT3A","SUCLG1","SUPT16H","SYN1","TBP","TBX1","TCF20","TCF4","TDO2","TFE3","TIMM50","TMEM106B","TMEM147","TMEM222","TMEM231","TMEM240","TMEM67","TRAPPC10","TREM2","TRIO","TRIP12","TSC1","TSC2","TTC19","TTC5","TTI2","TYROBP","UBE2A","UBE3C","UBE4A","UBTF","UQCC2","UROC1","USP7","USP9X","VCP","VPS13A","VPS16","WAC","WARS2","WDR45","WDR62","ZBTB20","ZMIZ1","ZMYND11"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INAPPROPRIATE_BEHAVIOR":{"collection":"C5:HPO","systematicName":"M34899","pmid":"","exactSource":"HP:0000719","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000719","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INAPPROPRIATE_BEHAVIOR","geneSymbols":["ALG9","ATP7B","CDKL5","CHMP2B","DCTN1","FOCAD","FOXG1","GABBR2","GALC","GM2A","GNAS","GRN","IQSEC2","KIF15","MAPT","MECP2","NTNG1","PHGDH","PIDD1","PIGS","PRKAR1B","PSAP","PSAT1","PSEN1","SLC18A2","SLC19A3","SMC1A","SQSTM1","TBC1D2B","TDO2","TMEM106B","TRANK1","TREM2","TYROBP","VCP","VPS13A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_COMPULSIVE_BEHAVIORS":{"collection":"C5:HPO","systematicName":"M34901","pmid":"","exactSource":"HP:0000722","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000722","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_COMPULSIVE_BEHAVIORS","geneSymbols":["ADCY5","ADGRV1","ADNP","AFF2","AP1G1","ARID1B","ARID2","ASH1L","AUTS2","BAZ1B","BCL7B","BCR","BRD4","BUD23","CARS1","CEP152","CHD5","CHD7","CHMP2B","CLCN3","CLCN4","CLIP2","CLN5","COASY","CREBBP","CRKL","DMPK","DNAJC30","DPF2","DRD2","EHMT1","EIF4H","ELN","EMC10","EP300","FKBP6","FMO3","FMR1","FOXP1","GABRA1","GABRD","GABRG2","GATAD2B","GCH1","GNB1","GRIA1","GRIA2","GRN","GTF2I","GTF2IRD1","GTF2IRD2","HCN1","HDAC4","HDAC8","HDC","HNRNPH2","HTR2A","HTT","IMPDH2","JARID2","KCNN2","KCTD17","KDM4B","KMT5B","LIMK1","MAGEL2","MAP1B","MAPK1","MAPK8IP3","MAPT","MED12","METTL27","MLXIPL","NCF1","NDN","NFIA","NIPBL","NKX2-1","NLGN1","NR2F1","NR4A2","OCA2","OCRL","PAH","PANK2","PCDH19","PDGFB","PDZD8","PITRM1","POGZ","PPM1D","PSEN1","PTCHD1","PUF60","RAD21","RFC2","SCN1A","SCN1B","SCN2A","SCN8A","SCN9A","SEMA3E","SETD5","SGCE","SIN3A","SIN3B","SLC2A3","SLC35C1","SLC45A1","SLC6A4","SLITRK1","SLITRK2","SMC1A","SMC3","SNRPN","SPTBN1","SQSTM1","SRCAP","STX1A","STX1B","SYNGAP1","TBL2","TBX1","TCF20","TIAM1","TKT","TLK2","TMEM106B","TMEM270","TOR1A","TREM2","TRIO","TRRAP","TTC19","UBE2A","UBE3A","USP7","USP9X","VCP","VPS13A","VPS16","VPS37D","XK","YWHAG","ZBTB20","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RESTRICTIVE_BEHAVIOR":{"collection":"C5:HPO","systematicName":"M34902","pmid":"","exactSource":"HP:0000723","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000723","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RESTRICTIVE_BEHAVIOR","geneSymbols":["CDKL5","CHMP2B","GABBR2","GRN","MAPT","MECP2","NLGN3","NLGN4X","NTNG1","PSEN1","SMC1A","SNRPN","SPTBN1","SQSTM1","TMEM106B","TREM2","VCP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PSYCHOTIC_EPISODES":{"collection":"C5:HPO","systematicName":"M34903","pmid":"","exactSource":"HP:0000725","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000725","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PSYCHOTIC_EPISODES","geneSymbols":["ARMC5","ATP13A2","ATRX","BRAF","CDH23","GNAS","HMBS","MTHFR","NAGS","NR3C1","PARK7","PITRM1","SLC7A7","SNORD118","TP53","USP48","USP8"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DEMENTIA":{"collection":"C5:HPO","systematicName":"M34904","pmid":"","exactSource":"HP:0000726","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000726","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEMENTIA","geneSymbols":["AARS1","AARS2","ABCA7","ABCD1","ADA2","ADH1C","ALDH18A1","ANXA11","APOE","APP","APTX","ARSA","ASAH1","ATN1","ATP13A2","ATP6V0A2","ATP6V1A","ATP6V1E1","ATP7B","ATRX","ATXN10","ATXN2","ATXN3","ATXN8OS","AUH","BRAF","C19orf12","C9orf72","CCNF","CDH23","CERS1","CFAP43","CHCHD10","CHCHD2","CHMP2B","CISD2","CLN3","CLN6","CLN8","COL4A1","CP","CPT1C","CSF1R","CST3","CSTB","CTSF","CUBN","CYLD","CYP27A1","DCTN1","DGUOK","DLAT","DNAJC13","DNAJC5","DNAJC6","DNM1L","DNMT1","EIF4G1","EPM2A","ERBB4","ERCC4","ERCC8","FAR1","FBXO7","FMR1","FTL","FUS","GBA1","GBA2","GBE1","GCDH","GIGYF2","GLUD2","GM2A","GRN","HEXA","HLA-DQB1","HNRNPA1","HNRNPA2B1","HTRA1","HTRA2","HTT","IRF6","ITM2B","JPH3","KCTD7","LIG3","LMNB1","LRRK2","LYST","MAPT","MATR3","MBTPS2","MMACHC","MME","MPO","MT-ATP6","MT-CO1","MT-CO2","MT-CO3","MT-CYB","MT-ND1","MT-ND4","MT-ND5","MT-ND6","MT-TC","MT-TE","MT-TF","MT-TH","MT-TK","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TT","MT-TV","MT-TW","NDP","NDUFA1","NHLRC1","NKX2-1","NOS3","NOTCH2NLC","NOTCH3","NPC1","NPC2","NR3C1","NR4A2","OPA1","PANK2","PARK7","PDE10A","PDGFB","PDGFRB","PINK1","PLA2G6","PLAU","PNPLA6","PODXL","POLG","PPP2R2B","PRDM8","PRDX1","PRICKLE1","PRKAR1B","PRKN","PRNP","PSAP","PSEN1","PSEN2","RAB39B","RNF216","ROGDI","RRM2B","SAMD9L","SCARB2","SDHA","SDHAF1","SDHB","SDHD","SERPINI1","SLC13A5","SNCA","SNCAIP","SNCB","SORL1","SPAST","SPG11","SPG21","SPTLC1","SQSTM1","STARD7","SYNJ1","TARDBP","TBK1","TBP","TIA1","TIMM8A","TMEM106B","TOMM40","TP53","TREM2","TREX1","TRPM7","TTR","TUBA4A","TUBB4A","TWNK","TYMP","TYROBP","UBQLN2","UCHL1","USP48","USP8","VCP","VPS13A","VPS13C","VPS35","WDR45","WFS1","XPR1","ZFYVE26"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FRONTAL_LOBE_DEMENTIA":{"collection":"C5:HPO","systematicName":"M34905","pmid":"","exactSource":"HP:0000727","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000727","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FRONTAL_LOBE_DEMENTIA","geneSymbols":["CHCHD10","CSF1R","DNAJC6","FTL","HTRA2","LRRK2","MAPT","PARK7","PINK1","PODXL","PRKN","PSEN1","SNCA","SYNJ1","TBP","TREM2","TYROBP","UCHL1","VPS13C"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_AUTISTIC_BEHAVIOR":{"collection":"C5:HPO","systematicName":"M34906","pmid":"","exactSource":"HP:0000729","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000729","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AUTISTIC_BEHAVIOR","geneSymbols":["AARS1","ACOX1","ACSL4","ACTL6B","ADGRL1","ADGRV1","ADH5","ADNP","ADSL","AFF2","AFF3","AGO1","AGO2","AHDC1","AKT1","ALAD","ALDH18A1","ALDH4A1","ALDH5A1","ALG11","ALG13","ALG14","ALMS1","ANK3","ANKRD11","ANKRD17","AP1G1","AP1S2","AP2M1","AP3B2","APC2","ARCN1","ARID1A","ARID1B","ARID2","ARNT2","ARV1","ARVCF","ARX","ASH1L","ASXL3","ATG7","ATP1A1","ATP1A2","ATP1A3","ATP2B1","ATP6V0A1","ATP6V1A","ATP6V1B2","ATP9A","ATRX","AUTS2","BAP1","BAZ1B","BCKDK","BCL11A","BCL11B","BCL7B","BCOR","BCORL1","BICRA","BRD4","BUD23","C12orf4","CACNA1A","CACNA1B","CACNA1C","CACNA2D1","CAMK2B","CAMTA1","CAPN15","CARS2","CASK","CASZ1","CC2D2A","CCNK","CDC42BPB","CDH11","CDH15","CDH2","CDK13","CDK19","CDK8","CDKL5","CELF2","CEP290","CEP85L","CHD1","CHD2","CHD3","CHD5","CHD7","CHD8","CHKA","CHMP1A","CHMP2B","CHRNA7","CIC","CLCN3","CLCN4","CLIP2","CLN5","CLN8","CLTC","CNKSR2","CNOT3","CNTNAP2","COG5","COMT","CREBBP","CTCF","CTNNA2","CTNNB1","CUL3","CUX2","CYFIP2","CYP27A1","DALRD3","DCX","DDX3X","DEAF1","DEPDC5","DHCR7","DHDDS","DHX30","DICER1","DLG4","DLK1","DLL1","DMPK","DMXL2","DNAJC21","DNAJC30","DNAJC6","DNM1","DOCK7","DOLK","DPAGT1","DPF2","DPP9","DPYD","DPYSL5","DYRK1A","EEF1A2","EFL1","EHMT1","EIF4H","EIF5A","ELN","EP300","EXT2","EXTL3","FBLN5","FBXO28","FBXW11","FGF12","FGF13","FGFR1","FKBP6","FLCN","FLG","FMR1","FOXG1","FOXP1","FOXP2","FRA10AC1","FRMPD4","FRRS1L","FTCD","FTSJ1","FZR1","GABBR2","GABRA1","GABRA2","GABRA5","GABRB2","GABRB3","GABRD","GABRG2","GALNT2","GALT","GAMT","GATAD2B","GATM","GFM2","GJA5","GJA8","GLRA2","GLYCTK","GNAI1","GNAO1","GNAQ","GNB1","GNB2","GP1BB","GRIA1","GRIA2","GRIA3","GRIK2","GRIN1","GRIN2A","GRIN2D","GRM7","GRN","GTF2I","GTF2IRD1","GTF2IRD2","H3-3A","H4C11","H4C5","HCN1","HDAC4","HDAC8","HECTD4","HECW2","HEPACAM","HERC1","HERC2","HESX1","HEXB","HIRA","HIVEP2","HNF1B","HNRNPH2","HSPG2","HTRA2","IARS1","IFNG","IFT140","IL1RAPL1","INTS1","IQSEC2","JAG2","JAM2","JARID2","JMJD1C","KANSL1","KAT6A","KAT8","KCNA1","KCNA2","KCNAB2","KCNB1","KCNC2","KCNN2","KDM3B","KDM4B","KDM5C","KDM6B","KLLN","KMT2A","KMT2B","KMT2C","KMT5B","KPTN","LHX1","LIMK1","LINGO1","LRRK2","LSS","LUZP1","MADD","MAGEL2","MAN1B1","MAN2C1","MAOA","MAP1B","MAPK10","MAPK8IP3","MAPT","MBD5","MBOAT7","MCTP2","MECP2","MED12","MED12L","MED13","MED13L","MEF2C","MEG3","MEIS2","METTL27","METTL5","MFSD2A","MID1","MKRN3","MLXIPL","MMP23B","MSTO1","MTOR","MTSS2","MYT1L","NAA10","NAA15","NAA20","NAGA","NBEA","NCAPD2","NCF1","NDN","NDP","NECAP1","NEUROD2","NEXMIF","NF1","NFIB","NFIX","NHS","NIPA1","NIPA2","NIPBL","NLGN1","NLGN3","NLGN4X","NONO","NOVA2","NPAP1","NPRL2","NPRL3","NR2F1","NSD1","NSD2","NTNG1","NTNG2","NTRK2","NUS1","OCA2","OPHN1","OTUD5","OTUD6B","OTX2","PACS1","PACS2","PAH","PAK2","PARK7","PARS2","PCDH19","PCGF2","PDE4D","PDPN","PDZD8","PGAP2","PGAP3","PHACTR1","PHF21A","PIGG","PIGL","PIGO","PIGP","PIGQ","PIGS","PIGV","PIGW","PIGY","PIK3CA","PINK1","PLA2G6","PLXNA1","PLXND1","PNKP","PODXL","POGZ","POLA1","POLR2A","POMT1","POU3F3","POU4F1","PPM1D","PPP2CA","PPP2R5D","PPP3CA","PRDM16","PRKAR1B","PRKCZ","PRKN","PRODH","PROKR2","PRORP","PRR12","PSEN1","PSMC3","PSMD12","PTCHD1","PTEN","PUF60","PUS3","PWAR1","PWRN1","QRICH1","RAB39B","RAC1","RAD21","RAI1","RALA","RERE","REV3L","RFC2","RFX7","RIMS2","RLIM","RNF135","RORA","RPGRIP1L","RPL10","RPS23","RREB1","RSPRY1","RSRC1","RTL1","SATB1","SATB2","SBDS","SBF2","SCN1A","SCN1B","SCN2A","SCN3A","SCN8A","SCN9A","SDHB","SDHC","SDHD","SEC23B","SEC24C","SEMA3E","SETBP1","SETD1A","SETD1B","SETD2","SETD5","SH2B1","SHANK3","SIK1","SIM1","SIN3A","SIN3B","SKI","SLC12A2","SLC13A5","SLC1A2","SLC25A22","SLC2A1","SLC32A1","SLC35A3","SLC35C1","SLC38A3","SLC6A1","SLC6A8","SLC9A6","SLF2","SLITRK2","SMAD4","SMARCA2","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SMC1A","SMC3","SNCA","SNORD115-1","SNORD116-1","SNRPN","SNX14","SON","SOX11","SOX2","SOX3","SOX4","SOX6","SPATA5","SPECC1L","SPEN","SPTBN1","SQSTM1","SRCAP","SRP54","SRY","STAG1","STAG2","STEEP1","STS","STX1A","STX1B","STXBP1","SUPT16H","SVBP","SYN1","SYNGAP1","SYNJ1","SYT1","SZT2","TAF1","TANC2","TAOK1","TBC1D23","TBC1D24","TBC1D2B","TBCK","TBL1XR1","TBL2","TBR1","TBX1","TBX2","TCEAL1","TCF12","TCF20","TCF4","TET3","TFE3","THOC2","TIAM1","TLK2","TM4SF20","TMEM106B","TMEM138","TMEM216","TMEM222","TMEM231","TMEM237","TMEM270","TMLHE","TMTC3","TNPO2","TNRC6B","TOE1","TOGARAM1","TRAK1","TREM2","TRIM8","TRIO","TRIP12","TRPM3","TRRAP","TSC1","TSC2","TTC19","TTC5","TUBB3","TUBG1","UBA2","UBA5","UBE3A","UBE3C","UBE4A","UBE4B","UBTF","UCHL1","UFD1","UPF3B","USF3","USP7","USP9X","VAMP2","VCP","VPS13C","VPS37D","WAC","WARS1","WARS2","WDR26","WFS1","WWOX","YWHAG","YY1","ZBTB20","ZBTB7A","ZFPM2","ZIC1","ZMIZ1","ZMYM2","ZMYND11","ZNF292","ZNF423","ZNF462","ZNF711","ZNFX1","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_REPETITIVE_MANNERISMS":{"collection":"C5:HPO","systematicName":"M34907","pmid":"","exactSource":"HP:0000733","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000733","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_REPETITIVE_MANNERISMS","geneSymbols":["ADGRL1","ADNP","AFF2","AFF3","AGO1","ALKBH8","ANK3","AP1S2","AP4B1","AP4E1","AP4M1","AP4S1","ARID2","ARPC4","ASH1L","ASXL3","ATG7","ATP9A","ATRX","AUTS2","BCL11A","BCORL1","BICRA","BRAF","CABP4","CACNA1B","CACNA1H","CACNA2D1","CAMK2B","CAMTA1","CASZ1","CCNK","CDK19","CDKL5","CELF2","CEP85L","CERT1","CHAMP1","CHD1","CHD3","CHD8","CHMP2B","CHRNA2","CHRNA4","CHRNB2","CIC","CLCN3","CNTNAP2","CPLX1","CRB1","CREBBP","CRH","CSNK2A1","CTBP1","CUX2","DDC","DDX6","DEAF1","DEPDC5","DHPS","DHX30","DLL1","DNAJC19","DOCK7","DPAGT1","DPF2","DPYSL5","DYRK1A","EBF3","EEF1A2","EHMT1","ELP2","EP300","EXT2","EXTL3","FBXO28","FBXW11","FGFRL1","FLCN","FLII","FMR1","FOXG1","FOXP1","GABBR2","GABRA1","GABRB3","GABRD","GABRG2","GJA5","GJA8","GLYCTK","GNAI1","GNB2","GRIA2","GRIK2","GRIN1","GRIN2A","GRN","GUCY2D","H4C5","HDAC4","HECW2","HERC2","HNRNPH2","HNRNPK","HNRNPR","HSPG2","HTT","HUWE1","IFNG","IQSEC2","JRK","KAT5","KAT6A","KCNAB2","KCNB1","KCNN2","KCNT1","KIF15","KIF5C","KMT2A","KMT5B","KPTN","KYNU","LARP7","LETM1","LMNB1","LUZP1","MACF1","MADD","MAPK1","MAPT","MBD5","MECP2","MEF2C","MGAT2","MMP23B","NAA10","NAA15","NAA20","NACC1","NAGS","NAPB","NARS1","NAT8L","NDP","NEXMIF","NLGN3","NLGN4X","NMNAT1","NOVA2","NPC2","NR2F1","NSD2","NTNG1","NTNG2","NTRK2","OCA2","OCRL","OPHN1","PACS2","PDE2A","PDPN","PDZD8","PGAP1","PGAP3","PIGF","POGZ","POLA1","PPP2CA","PPP2R5D","PRDM16","PRKAR1B","PRKCZ","PRODH","PSEN1","PUF60","PUS7","RAB11B","RAB39B","RAC1","RAI1","RBL2","RERE","RFX7","RHOBTB2","RPE65","RTTN","SATB1","SCN1A","SH2B1","SHANK3","SHMT2","SIK1","SKI","SLC1A4","SLC2A1","SLC6A8","SLC9A6","SMARCA2","SMC1A","SNRPN","SOX5","SPATA5","SPEN","SPTBN1","SQSTM1","SVBP","SYNGAP1","SYT1","TANC2","TAOK1","TARDBP","TBC1D23","TBCD","TBR1","TBX1","TCEAL1","TCF20","TCF4","TFE3","THOC2","TKT","TMEM106B","TMEM222","TMEM67","TPR","TRANK1","TRAPPC6B","TRAPPC9","TREM2","TRIM8","TRIO","TSC1","TSC2","TTI2","TUBB3","TULP1","UBE3A","UBE4B","VAMP2","VARS1","VCP","VPS13A","WDR26","WDR4","YME1L1","ZBTB18","ZBTB20","ZEB2","ZMYM2","ZNF526","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DISINHIBITION":{"collection":"C5:HPO","systematicName":"M34908","pmid":"","exactSource":"HP:0000734","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000734","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DISINHIBITION","geneSymbols":["AARS1","ABCA7","ACTL6B","ADAT3","AFF2","AMT","AP3B2","APP","ARPC4","ARV1","ATP1A2","ATP1A3","ATP6V1A","BAZ1B","BCL7B","BCORL1","BUD23","C19orf12","CACNA1A","CACNA1B","CACNA2D1","CDH2","CDK19","CDON","CELF2","CEP152","CHAMP1","CHCHD10","CHMP2B","CLIP2","CLTC","CNKSR2","COQ5","CREBBP","CYFIP2","DALRD3","DCTN1","DDX59","DEPDC5","DHDDS","DISP1","DLL1","DNAJC13","DNAJC30","DNAJC6","DNM1","DNMT1","DPYSL5","EEF1A2","EIF4G1","EIF4H","ELN","EP300","FBXO28","FBXW11","FGF12","FGF13","FGF8","FKBP6","FMR1","FOXH1","FTL","FUS","FUZ","FZR1","GABBR2","GABRA1","GABRA2","GABRA5","GABRB2","GABRB3","GABRG2","GAS1","GBA1","GIGYF2","GLDC","GLI2","GNB2","GRIK2","GRIN2A","GRIN2D","GRN","GTF2I","GTF2IRD1","GTF2IRD2","H4C5","HCN1","HEPHL1","HIVEP2","HTRA2","HTT","IFNG","IL1RAPL1","KANSL1","KCNA2","KCNB1","KNL1","LGI1","LIMK1","LRRK2","MAGEL2","MAOA","MAPT","MED13L","METTL27","MLXIPL","NAA20","NCF1","NECAP1","NFIB","NODAL","NONO","NTRK1","NTRK2","NUS1","PACS2","PANK2","PARK7","PARS2","PCDH19","PHIP","PIGH","PINK1","PLA2G6","PODXL","POGZ","POLA1","PPP3CA","PRKN","PSEN1","PSEN2","PTCH1","PTCHD1","RELN","RFC2","SCN1A","SCN1B","SCN2A","SCN3A","SCN8A","SCN9A","SHH","SIX3","SLC13A5","SLC1A2","SLC1A3","SLC2A3","SLC38A3","SMARCA2","SNCA","SORL1","SPAST","SPEN","SPTBN1","SQSTM1","SRCAP","STIL","STX1A","SUGCT","SYNGAP1","SYNJ1","SZT2","TARDBP","TBK1","TBL2","TDGF1","TGIF1","TMEM106B","TMEM240","TMEM270","TOMM40","TRAK1","TREM2","TSC1","TSC2","TYROBP","UBA5","UBTF","UCHL1","USP7","VANGL1","VCP","VPS13A","VPS13C","VPS16","VPS35","VPS37D","WDR62","WWOX","YWHAG","ZIC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_IMPAIRED_SOCIAL_INTERACTIONS":{"collection":"C5:HPO","systematicName":"M34909","pmid":"","exactSource":"HP:0000735","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000735","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRED_SOCIAL_INTERACTIONS","geneSymbols":["ACOX1","ADNP","ALG11","AP2M1","CDKL5","CHD2","CHMP1A","CLTC","CNTNAP2","CREBBP","DLK1","DNAJC6","EP300","EXTL3","FMR1","FOXG1","GABBR2","GFM2","GRIK2","GRIN1","HERC1","HTRA2","IQSEC2","LINGO1","LRRK2","MAN2C1","MBD5","MECP2","MED12","MEG3","NEXMIF","NF1","NLGN1","NTNG1","OPHN1","PARK7","PINK1","PLA2G6","PODXL","POLA1","PRKN","PUS3","RTL1","SCN1A","SH2B1","SHANK3","SLC2A1","SLC6A1","SLC6A8","SMC1A","SNCA","SNRPN","SPTBN1","SYNGAP1","SYNJ1","TBR1","TET3","TRIM8","TTC19","TUBB3","UCHL1","VPS13C","WARS2","ZMYND11"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_IRRITABILITY":{"collection":"C5:HPO","systematicName":"M34911","pmid":"","exactSource":"HP:0000737","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000737","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IRRITABILITY","geneSymbols":["ABCC6","ABCC8","ACOX1","ACTN4","ADAR","ADNP","AIFM1","ALDH7A1","ALG9","ALPL","AMPD2","AMT","ANKFY1","ANLN","APOL1","AQP2","ARG1","ARHGAP24","ARHGDIA","ARV1","ASAH1","ASH1L","ASL","ASNS","ASPA","ASS1","ATP5F1A","AVP","AVPR2","BMPR1A","C4A","CACNA1A","CAMK2A","CAMK2B","CARS1","CCR1","CD2AP","CDKN2A","CDON","CHMP2B","CLN8","CLP1","CNP","COG4","COL4A3","COQ8B","CPS1","CRB2","CTNNB1","CYP27B1","CYP2R1","DAAM2","DARS1","DCX","DDC","DISP1","DLL1","DNM1","DNMT1","DPYD","EHMT1","EMP2","ENPP1","EPCAM","ERAP1","EXOC8","EXOSC8","FAN1","FAS","FBP1","FBP2","FDFT1","FGF8","FGFR1","FIG4","FMR1","FOCAD","FOXG1","FOXH1","FOXRED1","GALC","GAPVD1","GAS1","GCH1","GLDC","GLI2","GLRX5","GNAS","GRIA4","GRN","GYS2","HBB","HIBCH","HIKESHI","HLA-B","HLA-DQB1","HLCS","HSPG2","HTRA1","HTT","IBA57","IFIH1","IFNGR1","IL10","IL12A","IL12A-AS1","IL23R","INF2","ITPA","JPH3","KLRC4","KRAS","LSM11","MAGI2","MAPT","MECP2","MED12","MED23","MEFV","MLH1","MLH3","MOCS2","MSH2","MSH6","MT-ATP6","MTHFS","MYO1E","NAA10","NAA20","NACC1","NAXD","NAXE","NDP","NDUFA2","NDUFA6","NDUFAF4","NDUFS1","NFIX","NHLRC2","NODAL","NPHS1","NPHS2","NRCAM","NSDHL","NUP107","NUP133","NUP160","NUP205","NUP37","NUP85","NUP93","OSTM1","OTC","PAH","PANK2","PAX2","PCBD1","PERCC1","PHGDH","PIK3CA","PLCE1","PLCH1","PLPBP","PMS1","PMS2","POGZ","PPT1","PRF1","PRKAR1A","PRNP","PRRT2","PSAP","PSEN1","PTCH1","PTH","PTPRO","PTS","PYCR2","PYGL","QDPR","RNASEH2A","RNASEH2B","RNASEH2C","RNF13","RNU7-1","RPS20","SAMHD1","SDHA","SDHAF1","SDHB","SDHD","SEMA4A","SEPSECS","SHH","SIX3","SLC16A2","SLC19A3","SLC1A2","SLC1A4","SLC25A1","SLC25A13","SLC25A19","SLC25A20","SLC2A1","SLC2A3","SLC39A14","SLC39A4","SLC46A1","SLC6A3","SMARCB1","SMC1A","SMPD1","SPTBN1","SQSTM1","ST3GAL3","ST3GAL5","STAG2","STAT4","STIL","STUB1","STX16","SUCLA2","TBC1D8B","TCN2","TDGF1","TERT","TGFBR2","TGIF1","TH","TK2","TLR4","TMEM106B","TMEM237","TP53","TRANK1","TREM2","TREX1","TRMT5","TRMU","TRPC6","TSEN15","TSPOAP1","TTI2","TYROBP","UBA5","UBAC2","UFC1","VCP","VDR","VPS13A","VPS50","VPS53","WT1","YIF1B","ZIC2","ZNRF3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HALLUCINATIONS":{"collection":"C5:HPO","systematicName":"M34912","pmid":"","exactSource":"HP:0000738","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000738","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HALLUCINATIONS","geneSymbols":["ABCA7","ADGRV1","ADH1C","ALAD","ALDH4A1","ALDH5A1","APOL2","APOL4","APP","ARSA","ARSG","ATP13A2","ATXN2","ATXN8OS","BCKDHA","BCKDHB","BCS1L","BMPR1A","BPTF","C9orf72","CACNA1A","CDH2","CDH23","CEP78","CEP85L","CHCHD10","CHCHD2","CHI3L1","CIB2","CISD2","CLN3","CLN5","CLN6","CLRN1","CLTRN","COMT","CPOX","CSF1R","CTSH","CYP27A1","DAOA","DBT","DCAF17","DEPDC5","DNAJC13","DNAJC5","DNAJC6","DNM1L","DNMT1","DRD3","ECM1","EIF4G1","EPCAM","EPM2A","ESPN","FAN1","FBXO7","FIG4","FUS","GBA1","GIGYF2","GLUD2","GRN","HARS1","HCRT","HLA-DQB1","HLA-DRB1","HMBS","HTR2A","HTRA1","HTRA2","HTT","JPH3","KRAS","LGI1","LRRK2","MAN2B1","MAPT","MED12","MLH1","MLH3","MMACHC","MOG","MSH2","MSH6","MT-TS2","MT-TT","MTHFR","MYO7A","NDP","NHLRC1","NPRL2","NPRL3","NR4A2","OPA1","P2RY11","PARK7","PCDH15","PDGFRB","PDZD7","PIK3CA","PINK1","PMS1","PMS2","PODXL","PPOX","PPT1","PRDM8","PRKN","PRNP","PSAP","PSEN1","PSEN2","PSMD12","PUS3","RELN","RPS20","RTN4R","SEMA4A","SLC25A13","SLC2A3","SLC6A19","SNCA","SNCAIP","SNCB","SON","SORL1","SPART","SQSTM1","SYN2","SYNJ1","TARDBP","TBK1","TBP","TGFBR2","TNFSF4","TOMM40","TRANK1","TREM2","TRRAP","TTC19","TTR","UCHL1","UPF3B","USH1C","USH1G","USH2A","VCP","VPS13C","VPS35","WFS1","WHRN","ZDHHC9","ZNF365"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APATHY":{"collection":"C5:HPO","systematicName":"M47036","pmid":"","exactSource":"HP:0000741","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000741","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APATHY","geneSymbols":["ACAT1","ALAD","ATP13A2","ATXN10","BMP6","C9orf72","CACNA1A","CDON","CHCHD10","CHMP2B","COQ2","CP","DCTN1","DISP1","DLL1","DNAJC13","DNAJC6","DNMT1","EHMT1","EIF4G1","FGF8","FGFR1","FOXH1","FUS","GAS1","GBA1","GDAP2","GFAP","GIGYF2","GLI2","GM2A","GRN","HEXA","HFE","HLA-DQB1","HMGCL","HTRA1","HTRA2","HTT","JPH3","LRRK2","MAPT","NODAL","NOTCH3","PARK7","PDGFB","PINK1","PLCH1","PLP1","PODXL","PRKAR1B","PRKN","PRNP","PSEN1","PTCH1","SHH","SIX3","SLC2A3","SMARCB1","SMC1A","SNCA","SPAST","SQSTM1","STAG2","STIL","SYNJ1","TARDBP","TBK1","TDGF1","TGIF1","TMEM106B","TMEM240","TRANK1","TREM2","TREX1","TSFM","UCHL1","VCP","VPS13A","VPS13C","VPS35","ZIC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SELF_MUTILATION":{"collection":"C5:HPO","systematicName":"M34913","pmid":"","exactSource":"HP:0000742","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000742","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SELF_MUTILATION","geneSymbols":["ADSL","ALG13","ATG7","AUH","BCOR","C12orf57","CAMK2G","CHD7","CLTCL1","CNTNAP2","CREBBP","CTNNB1","DHCR7","DPYD","EP300","GATAD2B","GRIA3","GRM7","H4C5","HDC","HERC2","HPRT1","INPP5E","LARP7","MADD","MGAT2","MYT1L","NAA10","NAT8L","NDE1","NTRK1","OPHN1","PAH","RAI1","RNU7-1","SATB2","SLC6A17","SLC6A8","SLITRK1","SMG8","SYT1","THOC2","TMCO1","TMEM231","TREX1","TRIO","VPS13A","WDR62"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LOW_FRUSTRATION_TOLERANCE":{"collection":"C5:HPO","systematicName":"M34914","pmid":"","exactSource":"HP:0000744","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000744","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOW_FRUSTRATION_TOLERANCE","geneSymbols":["CNTNAP2","DNAJC13","EIF4G1","GATAD2B","GBA1","GIGYF2","GNB2","KDM5C","KMT2A","LRRK2","MAOA","MED12","OPHN1","PPP2R5D","PUF60","SMARCA2","SNCA","VPS35"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DELUSIONS":{"collection":"C5:HPO","systematicName":"M34916","pmid":"","exactSource":"HP:0000746","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000746","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DELUSIONS","geneSymbols":["APOL2","APOL4","ARSA","ATRX","BRAF","C9orf72","CDH23","CHI3L1","COMT","CPOX","CSF1R","CYP27A1","DAOA","DGCR2","DGCR6","DGCR8","DRD3","ECM1","EIF2B1","ESS2","FMO3","GBA1","HLA-DQB1","HMBS","HTR2A","HTRA1","HTT","IMPA1","JPH3","MAN2B1","MTHFR","NR3C1","PLA2G6","PPOX","PPP2R2B","PRDM8","PRNP","PSAP","RTN4R","SLC25A13","SLC2A3","SNCA","SNCB","SYN2","TBP","TBX1","TIMM8A","TP53","TRANK1","USP48","USP8","VPS13A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INAPPROPRIATE_LAUGHTER":{"collection":"C5:HPO","systematicName":"M34917","pmid":"","exactSource":"HP:0000748","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000748","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INAPPROPRIATE_LAUGHTER","geneSymbols":["ADSL","ATP10A","ATRX","CDKL5","CSF1R","DYRK1A","GABBR2","GATAD2B","GLI3","GRIK2","GRIN1","HSD17B10","KANSL1","MAPT","MBD5","MECP2","NOVA2","NTNG1","NTNG2","OCA2","PDE2A","PGAP1","PIGS","PSEN1","SLC6A17","SLC9A6","SMC1A","SNRPN","TBC1D2B","TELO2","UBE3A","WDR4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PAROXYSMAL_BURSTS_OF_LAUGHTER":{"collection":"C5:HPO","systematicName":"M34918","pmid":"","exactSource":"HP:0000749","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000749","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PAROXYSMAL_BURSTS_OF_LAUGHTER","geneSymbols":["ATRX","GLI3","GRIK2","HSD17B10","MBD5","NTNG2","SNRPN","TELO2","UBE3A","WDR4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PERSONALITY_CHANGES":{"collection":"C5:HPO","systematicName":"M34920","pmid":"","exactSource":"HP:0000751","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000751","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERSONALITY_CHANGES","geneSymbols":["AARS1","ADH1C","APOE","ATP7B","ATXN2","ATXN8OS","CHMP2B","DCTN1","EIF2B1","GBA1","GLUD2","GRN","HLA-DQB1","HTT","JPH3","LMNB1","MAPT","MMACHC","MT-CO1","MT-CO2","MT-CO3","MT-ND1","MT-ND4","MT-ND5","MT-ND6","MT-TF","MT-TH","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TT","MT-TW","NOTCH3","NR4A2","PLA2G6","PNPLA6","PRNP","PSEN1","RNF216","SNCAIP","SQSTM1","TBK1","TBP","TIA1","TIMM8A","TMEM106B","TREM2","TYROBP","VCP","VPS13A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPERACTIVITY":{"collection":"C5:HPO","systematicName":"M34921","pmid":"","exactSource":"HP:0000752","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000752","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERACTIVITY","geneSymbols":["AARS1","AASS","ABCD1","ACTL6B","ACY1","ADAT3","ADGRL1","ADH5","ADNP","ADSL","AFF2","AGO1","AGO2","ALDH5A1","ALG14","ALKBH8","AMT","ANAPC1","ANK3","ANKRD11","ANKRD17","AP1G1","AP2M1","AP3B2","APC2","ARG1","ARID1A","ARID1B","ARID2","ARPC4","ARV1","ARVCF","ARX","ASH1L","ASPM","ATP10A","ATP1A1","ATP1A2","ATP1A3","ATP6V0A1","ATP6V1A","ATP9A","ATR","ATRX","AUTS2","BAP1","BAZ1B","BCAP31","BCL7B","BCORL1","BCR","BMPR1A","BRD4","BSCL2","BUD23","C12orf4","CABP4","CACNA1A","CACNA1B","CACNA1C","CACNA1H","CACNA2D1","CAMTA1","CARS1","CASK","CC2D1A","CCBE1","CDC42BPB","CDH11","CDH2","CDK19","CDK8","CDKL5","CDKN1C","CDON","CELF2","CHD2","CHD3","CHD5","CHD7","CHD8","CHKA","CHRNA2","CHRNA4","CHRNA7","CHRNB2","CIC","CLCN3","CLCN4","CLIP2","CLN5","CLTC","CNKSR2","CNTNAP2","COMT","CORO1A","CRBN","CREBBP","CRH","CRKL","CSGALNACT1","CSNK2A1","CUL3","CUL4B","CUX2","CYFIP2","CYP27A1","DALRD3","DCDC2","DDB1","DDX3X","DEAF1","DENND5A","DEPDC5","DHCR7","DHDDS","DHTKD1","DISP1","DLG3","DLL1","DMPK","DMXL2","DNAJC12","DNAJC21","DNAJC30","DNM1","DPF2","DPH1","DPH2","DPP6","DPYD","DRD4","DRD5","DYM","DYNC1I2","DYRK1A","EBP","EEF1A2","EIF2AK1","EIF4H","ELN","EP300","EPCAM","FAN1","FANCD2","FANCL","FBXO11","FBXO28","FGD1","FGF12","FGF13","FGF8","FGFR1","FGFR3","FKBP6","FLCN","FLG","FLI1","FLII","FMR1","FOXG1","FOXH1","FOXP1","FOXP2","FRMPD4","FZR1","GABBR2","GABRA1","GABRA2","GABRA5","GABRB2","GABRB3","GABRG2","GALC","GALT","GAMT","GAS1","GATA4","GATAD2B","GLDC","GLI2","GLRA2","GLUD1","GNAO1","GNAQ","GNB1","GNB5","GNE","GNS","GP1BB","GRIA1","GRIK2","GRIN1","GRIN2A","GRIN2D","GRM7","GTF2I","GTF2IRD1","GTF2IRD2","H3-3A","H4C5","HAL","HCN1","HDAC4","HDAC8","HDC","HEPACAM","HERC2","HGSNAT","HIRA","HIVEP2","HMGA2","HNRNPH2","HNRNPK","HNRNPR","HOXA2","HSPG2","HTT","HUWE1","IFNG","IGF1","IGF2","IKBKG","IL1RAPL1","INPP5E","IQSEC1","IQSEC2","JARID2","JMJD1C","JRK","KANSL1","KAT5","KAT8","KCNA1","KCNA2","KCNA4","KCNB1","KCNC2","KCNK9","KCNN2","KCNT1","KDM3B","KDM4B","KDM5C","KDM6B","KIF11","KIF14","KIF15","KMT2A","KMT2B","KMT5B","KPNA3","KRAS","LGI3","LHCGR","LIG4","LIMK1","LMAN2L","LNPK","MADD","MAGEL2","MANBA","MAP1B","MAPK1","MAPK10","MBD5","MCTP2","MECP2","MED12","MED12L","MED13","MED13L","METTL27","METTL5","MICU1","MID2","MKRN3","MLH1","MLH3","MLXIPL","MSH2","MSH6","MTOR","NAA15","NAGLU","NBEA","NBN","NCF1","NDP","NECAP1","NEUROD2","NEXMIF","NF1","NFIA","NFIB","NFIX","NIPA1","NIPA2","NIPBL","NKAP","NKX2-1","NLGN1","NODAL","NOP56","NPAP1","NR2F1","NSD1","NSD2","NSDHL","NSUN2","NTNG2","NTRK1","NTRK2","NUS1","OCA2","OCRL","ODC1","OPHN1","PACS2","PAH","PAK3","PANK2","PARS2","PCDH19","PCGF2","PCNT","PDCD6IP","PDE4D","PDGFRB","PDZD8","PHF21A","PHIP","PIDD1","PIEZO2","PIGP","PIGQ","PIK3CA","PLA2G6","PLAG1","PLCH1","PMS1","PMS2","PNKP","PNP","POGZ","POLA1","PPM1D","PPP1R12A","PPP1R21","PPP2CA","PPP2R1A","PPP3CA","PRKAR1B","PRKCG","PRKD1","PRNP","PRODH","PRR12","PSMB1","PSMD12","PTCH1","PTCHD1","PTEN","PUF60","PUS7","PWAR1","PWRN1","RAB39B","RAC1","RAD21","RAI1","RERE","RFC2","RFX7","RIC1","RPS20","RREB1","RSRC1","RUSC2","SATB2","SCAPER","SCN1A","SCN1B","SCN2A","SCN3A","SCN8A","SEC24C","SEMA3E","SEMA4A","SETBP1","SETD2","SETD5","SGSH","SH2B1","SH3KBP1","SHANK3","SHH","SHMT2","SHOC2","SHROOM4","SIK1","SIM1","SIN3A","SIX3","SLC13A5","SLC1A2","SLC1A4","SLC25A13","SLC25A22","SLC25A36","SLC2A1","SLC32A1","SLC38A3","SLC6A1","SLC6A19","SLC6A8","SLC7A6OS","SLC9A7","SLF2","SLITRK1","SLITRK2","SMARCA2","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SMC1A","SMC3","SMC5","SMPD1","SNORD115-1","SNORD116-1","SNRPN","SOX11","SOX4","SOX5","SOX6","SPEN","SPG7","SPR","SPRED1","SPTBN1","SRCAP","SRPX2","STAG2","STEEP1","STIL","STS","STX1A","STXBP1","SUPT16H","SYNGAP1","SYNJ1","SZT2","TAF1","TAF6","TANC2","TAOK1","TBC1D23","TBC1D2B","TBL1X","TBL2","TBX1","TBX2","TCF20","TDGF1","TET3","TGFBR2","TGIF1","THRB","TIAM1","TIMM8A","TKT","TLK2","TMCO1","TMEM147","TMEM222","TMEM270","TMEM67","TNIK","TNPO2","TNRC6B","TPH2","TRAK1","TRAPPC14","TRAPPC9","TRIM8","TRIO","TRIP12","TSC1","TSC2","TSHB","TSHR","TTI2","TUBA1A","TUBB2B","TUBB3","TUBG1","UBA5","UBE3A","UBE3C","UBE4A","UBTF","UFD1","UPF3B","UQCC2","USP7","VPS13A","VPS37D","WAC","WBP11","WDR62","WWOX","YME1L1","YWHAG","YY1","ZBTB20","ZDHHC9","ZIC2","ZMIZ1","ZMYM2","ZNF292","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LACK_OF_INSIGHT":{"collection":"C5:HPO","systematicName":"M34922","pmid":"","exactSource":"HP:0000757","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000757","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LACK_OF_INSIGHT","geneSymbols":["CHMP2B","GRN","MAPT","PSEN1","SQSTM1","TBP","TMEM106B","TREM2","TYROBP","VCP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_NONVERBAL_COMMUNICATIVE_BEHAVIOR":{"collection":"C5:HPO","systematicName":"M41225","pmid":"","exactSource":"HP:0000758","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000758","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_NONVERBAL_COMMUNICATIVE_BEHAVIOR","geneSymbols":["ADAM22","ADCY5","ADNP","ADSL","AGTPBP1","ALG13","ALG2","AP3B2","ARFGEF2","ARX","ATP1A2","CACNA2D2","CAMK2B","CDKL5","CHD8","CLP1","CNTNAP1","CNTNAP2","COX10","CUX2","DEAF1","DLK1","DOCK7","DOLK","FLCN","FMR1","FOXG1","FOXRED1","FRMPD4","GABBR2","GABRA2","GALNT2","GFM1","GFM2","GLS","GNB5","GPHN","GRIA3","GRIN1","GRIN2B","GUF1","IREB2","KCNT1","KMT5B","MBD5","MDH2","MECP2","MEF2C","MEG3","MFF","MICOS13","MT-ND1","MT-ND2","MT-ND3","NALCN","NDE1","NDUFA1","NDUFA11","NDUFA13","NDUFA6","NDUFAF1","NDUFAF2","NDUFAF3","NDUFAF4","NDUFAF5","NDUFAF8","NDUFB10","NDUFB11","NDUFB3","NDUFB9","NDUFC2","NDUFS1","NDUFS2","NDUFS3","NDUFS4","NDUFS6","NDUFS7","NDUFS8","NDUFV1","NDUFV2","NEUROD2","NEXMIF","NHLRC2","NLGN3","NLGN4X","NTNG1","NTRK2","NUBPL","OPHN1","PIGP","POLA1","PUF60","RAB11B","RARS1","RTL1","SHANK3","SLC13A5","SLC25A1","SLC25A12","SMC1A","SNRPN","SPATA5","SPEN","SPTBN1","ST3GAL3","SYT1","TARS2","TBC1D23","TIMMDC1","TMEM126B","TMEM163","TRIM8","TWNK","UBA5","UGP2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_PERIPHERAL_NERVOUS_SYSTEM_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M34923","pmid":"","exactSource":"HP:0000759","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000759","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PERIPHERAL_NERVOUS_SYSTEM_MORPHOLOGY","geneSymbols":["AAAS","AARS1","ABCA1","ABCC8","ABCD1","ACOX1","ACTA1","ADA2","ADCY6","ADGRG1","ADNP","ADPRS","AFG3L2","AGRN","AGTPBP1","AIFM1","AK9","AKT1","ALDH18A1","ALG12","ALG14","ALG2","ALS2","AMER1","AMPD2","ANKH","ANO5","ANTXR1","ANXA11","APC","APTX","ARHGEF10","ARMC5","ARSA","ASAH1","ASCC1","ASCL1","ASXL1","ATAD3A","ATL1","ATL3","ATP11A","ATP13A2","ATP1A2","ATP1A3","ATP7A","ATRX","ATXN3","B2M","BAG3","BAP1","BDNF","BICRA","BIN1","BMS1","BRAF","BTNL2","C19orf12","C9orf72","CA2","CACNA1A","CAPN1","CAPN3","CCM2","CCND1","CCT5","CDH23","CDKN1A","CDKN1B","CDKN2B","CDKN2C","CEP126","CFL2","CHAT","CHCHD10","CHD7","CHKB","CHMP2B","CHRNA1","CHRNB1","CHRND","CHRNE","CLCN7","CNTNAP1","COA7","COASY","COCH","COG8","COL12A1","COL13A1","COL25A1","COL4A1","COL6A1","COL6A2","COL6A3","COLQ","COQ6","COQ7","COX20","COX6A1","CPLANE1","CRLF1","CRPPA","CRYAB","CTDP1","CTSD","CYP27A1","CYP2U1","DARS2","DAXX","DCAF8","DCTN1","DDHD1","DES","DGUOK","DHH","DHX16","DKK1","DLL4","DLST","DMPK","DNAJB6","DNM2","DNMT1","DNMT3A","DOK7","DPAGT1","DYNC1H1","EDN3","EGR2","ELOVL4","ELOVL5","ELP1","EPAS1","ERBB2","ERCC6","ERCC8","EXOSC3","EXOSC8","EXOSC9","EXT1","EXT2","EYA1","FA2H","FBLN5","FGD4","FGF14","FGF3","FH","FIG4","FKRP","FKTN","FLNC","FLRT1","FLVCR1","FRG1","FUS","FXN","GALC","GAN","GBA2","GBE1","GBF1","GCDH","GCGR","GCK","GDAP1","GDF3","GDF6","GDNF","GFPT1","GJA1","GJB1","GJC2","GLE1","GMPPA","GMPPB","GNAQ","GNAS","GNB2","GNB4","GNE","GRN","GSN","HACE1","HARS1","HEXB","HINT1","HK1","HLA-DRB1","HMBS","HNRNPA1","HNRNPA2B1","HOXB1","HRAS","HSPB1","HSPB8","HYCC1","IBA57","IFNG","IFRD1","IGHMBP2","INF2","INS","ITGB4","JPH1","KARS1","KBTBD13","KCNJ10","KCNJ11","KCNK9","KIF1A","KIF1B","KIF1C","KIF5A","KIT","KLC2","KLHL40","KLHL41","KLHL9","KMT2D","KPNA3","KRAS","KRIT1","KY","LAMA2","LAMB2","LARGE1","LBX1","LIG3","LITAF","LMNA","LMNB1","LMOD3","LRP1","LRP12","LRP4","LRP5","LRPPRC","LRSAM1","LZTR1","MAFA","MAPT","MARS1","MAT1A","MATR3","MAX","MBD4","MCM3AP","MDH2","MEGF10","MEN1","MEOX1","MFN2","MGME1","MICU1","MLH1","MMACHC","MME","MOCS1","MOCS2","MORC2","MPV17","MPZ","MT-ATP6","MT-CO1","MT-CO2","MT-CO3","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND5","MT-ND6","MT-TE","MT-TF","MT-TH","MT-TK","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TV","MT-TW","MTM1","MTMR14","MTMR2","MTRFR","MTTP","MUSK","MYF6","MYH7","MYL2","MYMK","MYMX","MYO1H","MYO9A","MYPN","NAGA","NDRG1","NEB","NEFH","NEFL","NEMF","NF1","NF2","NFU1","NGF","NGLY1","NOD2","NR3C1","NTRK1","OPA1","OSTM1","OTX2","PABPN1","PDCD10","PDE11A","PDGFB","PDX1","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PHOX2B","PI4KA","PIEZO2","PIGB","PIK3CA","PIK3R5","PLA2G6","PLD3","PLEC","PLEKHG4","PLEKHG5","PLEKHM1","PLOD1","PLP1","PLXNA1","PLXND1","PMP2","PMP22","PNPLA6","PNPT1","POLG","POLG2","POMT1","POMT2","PRICKLE1","PRKAR1A","PRNP","PRPH","PRPS1","PRRT2","PRRX1","PRX","PSAP","PSEN1","PTDSS1","PTRH2","PUF60","RAB7A","RAI1","RAPSN","REEP1","RET","RETREG1","REV3L","RFC1","RNF170","RNF220","RNF43","RRM2B","RYR1","SACS","SALL4","SAMD9L","SBF1","SBF2","SCN1A","SCN4A","SCN9A","SCO2","SDHA","SDHAF2","SDHB","SDHC","SDHD","SELENON","SEMA3E","SEPTIN9","SERPING1","SETX","SGCD","SH3TC2","SHMT2","SIX1","SIX5","SLC12A6","SLC18A3","SLC19A3","SLC25A1","SLC25A11","SLC25A19","SLC25A21","SLC25A4","SLC25A46","SLC29A3","SLC39A14","SLC52A2","SLC52A3","SLC5A7","SMARCB1","SMARCE1","SMCHD1","SMN1","SMN2","SMO","SNAP25","SNX10","SOD1","SOST","SOX10","SPEG","SPG11","SPG7","SPRED1","SPTBN1","SPTBN4","SPTLC1","SPTLC2","SQSTM1","SRPX2","STAG2","STAT3","SUCLA2","SUFU","SUMF1","SUPT16H","SURF1","SYNE1","SYT2","TARDBP","TBCD","TBCE","TBK1","TBL1XR1","TCIRG1","TDP1","TERT","TFAP2A","TFG","TGFB1","TK2","TMEM106B","TMEM127","TMEM53","TNFRSF11A","TNFSF11","TOR1A","TP53","TPM2","TPM3","TRAF7","TRAPPC11","TREM2","TRIM2","TRIM32","TRIP4","TRPM7","TRPV4","TSC1","TSC2","TTC19","TTN","TTR","TUBB3","TUBB6","TWNK","TXN2","TYMP","TYROBP","UBA1","UBA2","UBE2T","UBQLN2","UBTF","UCHL1","USP48","USP8","VAMP1","VCP","VHL","VPS13A","VPS13D","VPS41","VRK1","VWA1","WARS1","WDR48","WFS1","WNK1","XK","XRCC2","XRCC4","YARS1","YME1L1","YY1","ZC4H2","ZFHX4","ZFYVE26","ZNHIT3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SENSORY_NEUROPATHY":{"collection":"C5:HPO","systematicName":"M34924","pmid":"","exactSource":"HP:0000763","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000763","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SENSORY_NEUROPATHY","geneSymbols":["ACOX1","AIFM1","ALAD","ALS2","AMACR","AR","ARL6IP1","ATL1","ATL3","ATP13A2","ATXN8OS","CACNA1A","CAPN1","CCT5","CLCN6","COMP","COX20","CRAT","CTDP1","CTLA4","CTSD","DGUOK","DHH","DHX16","DKK1","DMD","DNASE1L3","DNMT1","DST","ERLIN2","FGF14","FXN","GAN","GJB1","GJC2","GSN","HADHA","HADHB","HEXB","HINT1","HK1","HLA-DPA1","HLA-DPB1","HNRNPA1","HNRNPA2B1","IARS2","IBA57","KLC2","LMNA","LYST","MFN2","MORC2","MT-ATP6","MT-CO1","MT-CO2","MT-CO3","MT-ND1","MT-ND4","MT-ND5","MT-ND6","MT-TF","MT-TH","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TW","NAGA","NEFH","NF2","OPA1","PEX1","PEX6","PIEZO2","PLD3","PLEKHG4","PLP1","PNPT1","POLG","PRICKLE1","PRPS1","PRTN3","PTPN22","RAB7A","RAI1","REPS1","RNF170","RNU7-1","SAMD9L","SHMT2","SLC12A6","SPG11","SPTLC1","SPTLC2","SYNE1","TDP1","TFG","TGFB1","TIMM8A","TK2","TNXB","TOP3A","TRPV4","TTPA","TWNK","VCP","VPS13A","XRCC4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PERIPHERAL_AXONAL_DEGENERATION":{"collection":"C5:HPO","systematicName":"M34925","pmid":"","exactSource":"HP:0000764","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000764","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERIPHERAL_AXONAL_DEGENERATION","geneSymbols":["AAAS","AARS1","ABCA1","ABCC8","ABCD1","ACOX1","ADPRS","AFG3L2","AGTPBP1","AIFM1","ALDH18A1","AMPD2","APTX","ASCC1","ATAD3A","ATL1","ATL3","ATP11A","ATP13A2","ATP1A3","ATXN3","BAG3","BIN1","BRAF","C19orf12","CAPN1","CCT5","COA7","COASY","COG8","COX20","CTDP1","CTSD","CYP27A1","CYP2U1","DARS2","DCAF8","DDHD1","DGUOK","DHX16","DNM2","DYNC1H1","ELOVL4","ELOVL5","ERBB2","ERCC6","ERCC8","EXOSC3","EXOSC8","EXOSC9","FBLN5","FGF14","FIG4","FLRT1","FLVCR1","FXN","GAN","GBA2","GBE1","GBF1","GCK","GDAP1","GJB1","GJC2","GLE1","GMPPA","GNB2","GNB4","HARS1","HEXB","HINT1","HK1","HMBS","HNRNPA1","HNRNPA2B1","HSPB1","HSPB8","IBA57","IFRD1","IGHMBP2","INF2","INS","JPH1","KARS1","KCNJ10","KCNJ11","KCNK9","KIF1A","KIF1B","KIF5A","KLC2","KLHL9","KPNA3","KRAS","LAMA2","LIG3","LMNA","LRSAM1","MARS1","MCM3AP","MFN2","MICU1","MME","MOCS1","MOCS2","MORC2","MPV17","MPZ","MT-ATP6","MT-CO1","MT-CO2","MT-CO3","MT-ND1","MT-ND4","MT-ND5","MT-ND6","MT-TE","MT-TF","MT-TH","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TW","MTMR14","MTRFR","MYF6","NAGA","NDRG1","NEFH","NEFL","NEMF","NGLY1","OPA1","PDX1","PEX10","PIEZO2","PIGB","PIK3R5","PLA2G6","PLD3","PLEKHG4","PLOD1","PLXNA1","PMP22","PNPLA6","POLG","POLG2","PRICKLE1","PRPS1","PSAP","RAB7A","REEP1","RETREG1","RFC1","RNF170","RNF220","RRM2B","RYR1","SAMD9L","SEPTIN9","SERPING1","SETX","SH3TC2","SHMT2","SLC12A6","SLC25A19","SLC25A21","SLC25A4","SLC25A46","SPG11","SPG7","SPTBN4","SPTLC1","SPTLC2","STAT3","SURF1","SYNE1","TBCD","TBCE","TDP1","TFG","TK2","TRAPPC11","TRIM2","TRIP4","TRPV4","TTC19","TTR","TUBB3","TWNK","TXN2","TYMP","TYROBP","UBQLN2","UBTF","UCHL1","VCP","VPS13A","VPS13D","VPS41","VRK1","VWA1","WARS1","WDR48","WFS1","XK","XRCC4","YARS1","ZFYVE26"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_THORAX_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M34926","pmid":"","exactSource":"HP:0000765","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000765","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_THORAX_MORPHOLOGY","geneSymbols":["AARS1","ABCA3","ABCC6","ABCC9","ABCD4","ABL1","ACAN","ACP5","ACTA1","ACTA2","ACTB","ACTG2","ADA","ADA2","ADAMTS10","ADAMTS3","ADAMTSL2","ADGRG1","ADGRG6","ADNP","AEBP1","AFF3","AGA","AGRN","AIFM1","AK9","AKT1","ALDH18A1","ALDH1A2","ALDH3A2","ALG12","ALG14","ALG2","ALMS1","ALPL","ALX4","AMER1","ANAPC7","ANK1","ANKRD11","ANKRD55","ANO5","ANTXR1","ANXA11","AP1G1","APC","APC2","AR","ARF1","ARFGEF2","ARID1B","ARID2","ARL3","ARSB","ARSK","ARSL","ARVCF","ASAH1","ASH1L","ASPH","ASXL1","ATAD3A","ATG7","ATP2B1","ATP6V0A2","ATP6V1B2","ATP7A","ATR","B3GALT6","B3GAT3","B3GLCT","B4GALT7","B4GAT1","BAG3","BANF1","BAP1","BAZ1B","BCL7B","BCOR","BCORL1","BGN","BICD2","BICRA","BIN1","BMP1","BMP2","BMPER","BMPR1A","BRAF","BRD4","BUB1B","BUD23","C19orf12","C2CD3","CA2","CANT1","CAPN3","CARS1","CASR","CASZ1","CBFB","CBL","CBS","CCBE1","CCDC22","CCDC47","CCDC8","CCN6","CD247","CD96","CDC42","CDC42BPB","CDC45","CDC6","CDH11","CDH2","CDON","CDT1","CENPJ","CEP120","CEP152","CFAP410","CFL2","CHAT","CHD4","CHD7","CHRM3","CHRNA1","CHRNB1","CHRND","CHRNE","CHRNG","CHST11","CHST14","CHST3","CILK1","CLCN7","CLIP2","COG1","COG4","COL10A1","COL11A1","COL11A2","COL12A1","COL13A1","COL1A1","COL1A2","COL2A1","COL3A1","COL5A1","COL5A2","COL6A1","COL6A2","COL6A3","COLQ","COMP","COMT","CPLANE1","CPLX1","CREB3L1","CREBBP","CRPPA","CRTAP","CSF1R","CSGALNACT1","CSPP1","CTBP1","CTNS","CTSK","CUL4B","CUL7","CUX1","CYP21A2","CYP27A1","CYP27B1","CYP2R1","DACT1","DCHS1","DDR2","DDRGK1","DDX3X","DES","DHCR7","DHODH","DICER1","DISP1","DLG3","DLK1","DLL1","DLL3","DMD","DNAJC21","DNAJC30","DNM1L","DNM2","DNMT3A","DOK7","DONSON","DPAGT1","DPF2","DPYSL5","DSE","DSTYK","DVL1","DVL3","DYM","DYNC2H1","DYNC2I1","DYNC2I2","DYNC2LI1","DYNLT2B","DYRK1A","DYSF","EBP","EFEMP2","EFL1","EFNB1","EIF2AK3","EIF4H","ELMO2","ELN","EMD","EMILIN1","ENPP1","EP300","ERCC2","ERCC3","ERF","ERLIN1","ERMARD","ESCO2","EVC","EVC2","EXOC6B","EXT1","EXT2","EXTL3","EYA1","EZH2","FAM111A","FAM149B1","FAM20C","FARSB","FAT4","FBLN5","FBN1","FBN2","FBXL3","FBXO28","FERMT1","FGD1","FGF8","FGFR1","FGFR2","FGFR3","FGFRL1","FHL1","FIG4","FKBP10","FKBP6","FKTN","FLI1","FLNA","FLNB","FLNC","FMR1","FN1","FOXE3","FOXF1","FOXH1","FRA10AC1","FRAS1","FREM2","FRG1","FUCA1","FUZ","FZD2","G6PC3","GABRA3","GABRD","GAD1","GALNS","GAS1","GATA1","GATA4","GATA6","GBA1","GDAP1","GDF11","GDF3","GDF6","GFPT1","GJA1","GJA5","GJA8","GLB1","GLE1","GLI1","GLI2","GLI3","GMNN","GMPPB","GNB1","GNB2","GNE","GNPTAB","GNPTG","GNS","GORAB","GP1BB","GPC3","GPC4","GPKOW","GPX4","GSC","GTF2E2","GTF2H5","GTF2I","GTF2IRD1","GTF2IRD2","GTPBP2","GUSB","GYG1","GZF1","H19","HACD1","HBA1","HBA2","HDAC4","HDAC6","HDAC8","HEATR3","HECTD4","HERC1","HES7","HEY2","HGSNAT","HHAT","HINT1","HIRA","HNF1B","HNRNPH1","HNRNPH2","HNRNPK","HNRNPR","HOXD13","HPGD","HRAS","HS2ST1","HSD17B4","HSPG2","HUWE1","HYOU1","IARS2","IDH1","IDS","IDUA","IFT122","IFT140","IFT172","IFT43","IFT52","IFT57","IFT80","IFT81","IGBP1","IGF1R","IGF2","IHH","IKBKG","IL1RN","IL2RA","IL2RB","IL6ST","INPP5K","INPPL1","INTS1","INTU","IPO8","IRF6","IRX5","ITCH","ITGA3","ITGA7","JAG1","JAG2","JMJD1C","KANSL1","KAT6A","KBTBD13","KCNAB2","KCNJ2","KCNJ8","KCNQ1OT1","KDELR2","KDM5C","KDM6B","KIAA0586","KIAA0753","KIF22","KIF7","KLHL40","KLHL41","KLLN","KMT2A","KMT2D","KRAS","KRT5","KY","KYNU","LAMA2","LAMA5","LAMB2","LBR","LEMD2","LEMD3","LETM1","LFNG","LGI3","LGI4","LHX3","LIFR","LIG4","LIMK1","LMBRD2","LMNA","LMOD3","LMX1B","LONP1","LOX","LRIF1","LRP2","LRP4","LRP5","LRRK1","LTBP1","LTBP2","LUZP1","LYSET","LZTR1","MAF","MAMLD1","MAN1B1","MAN2B1","MAP1B","MAP2K1","MAP2K2","MAP3K20","MAP3K7","MAPK1","MAPRE2","MARS2","MAT2A","MATN3","MBD5","MBTPS1","MBTPS2","MECP2","MED12","MED12L","MED25","MEG3","MEGF10","MEGF8","MEOX1","MESD","MESP2","MET","METTL27","MFAP5","MGAT2","MGP","MLXIPL","MME","MMP13","MMP14","MMP2","MMP23B","MOGS","MPLKIP","MRAS","MSTO1","MSX2","MTM1","MTMR14","MTOR","MTRFR","MTX2","MUSK","MYBPC1","MYF5","MYF6","MYH11","MYH2","MYH3","MYH7","MYL11","MYL2","MYLK","MYO9A","MYOD1","MYPN","MYSM1","NAA10","NADSYN1","NAGLU","NALCN","NARS1","NCF1","NEB","NEDD4L","NEFL","NEK1","NEK9","NELFA","NEPRO","NEU1","NF1","NFASC","NFIX","NGLY1","NHLRC2","NIPBL","NKAP","NKX3-2","NODAL","NOG","NOTCH2","NOTCH3","NPR2","NPR3","NRAS","NSD1","NSD2","NSDHL","NSUN2","NUP107","NUP88","NXN","OBSL1","OCRL","ODC1","OPA1","ORC1","ORC4","ORC6","OSGEP","OTUD6B","P3H1","P4HB","PACS1","PAICS","PAM16","PAX1","PAX3","PAX7","PCGF2","PCNT","PCYT1A","PDGFRB","PDHX","PDPN","PEX1","PEX5","PGAP2","PGAP3","PHEX","PHF8","PI4KA","PIEZO1","PIEZO2","PIGA","PIGG","PIGL","PIGN","PIGO","PIGQ","PIGS","PIGT","PIGU","PIGV","PIGW","PIGY","PIK3C2A","PIK3CA","PIK3R2","PLAA","PLCB3","PLEKHM1","PLIN4","PLK4","PLOD1","PLOD2","PLXND1","POGLUT1","POLG","POLR2A","POLR3A","POMT2","POP1","POR","PORCN","PPIB","PPP1CB","PPP1R15B","PPP1R21","PPP2R1A","PPP3CA","PQBP1","PRDM16","PRIM1","PRKACA","PRKACB","PRKCZ","PRKG1","PRKG2","PRNP","PROKR2","PRR12","PSMB8","PTCH1","PTDSS1","PTEN","PTF1A","PTH1R","PTPN11","PTPN2","PTPN22","PUF60","PUS1","PYCR1","PYCR2","PYROXD1","RAB33B","RAB3GAP2","RAB5IF","RAD21","RAF1","RAPSN","RASA2","RBBP8","RBM10","RBM8A","RECQL4","RERE","REST","RET","RFC2","RIN2","RIPK4","RIPPLY2","RIT1","RMRP","RNF113A","RNF135","RNU12","RNU4ATAC","ROR2","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS6KA3","RPS7","RRAS","RRAS2","RREB1","RSPO2","RSPRY1","RTL1","RTTN","RUNX2","RYR1","RYR3","SALL1","SALL4","SBDS","SC5D","SCARF2","SCN4A","SCUBE3","SDHB","SDHC","SDHD","SEC23A","SEC23B","SEC24C","SEC24D","SELENON","SEMA3E","SEPTIN9","SERPINH1","SETBP1","SETD2","SF3B2","SF3B4","SFRP4","SFTPB","SFTPC","SGCA","SGCB","SGCD","SGCG","SGSH","SH2B1","SH3PXD2B","SHH","SHOC2","SIK3","SIL1","SIM1","SIX3","SIX6","SKI","SLC10A7","SLC12A2","SLC16A2","SLC17A5","SLC18A3","SLC25A1","SLC26A1","SLC26A2","SLC2A1","SLC2A10","SLC34A1","SLC34A3","SLC35D1","SLC37A4","SLC5A7","SLC9A6","SMAD2","SMAD3","SMAD4","SMARCAL1","SMC1A","SMC3","SMCHD1","SMO","SMPX","SMS","SNAP25","SNRPB","SNX10","SNX14","SON","SOS1","SOS2","SOST","SOX10","SOX2","SOX5","SOX9","SP7","SPECC1L","SPEG","SPEN","SPRED1","SPRED2","SPRTN","SPTLC1","SQSTM1","SRCAP","SRD5A3","SRP54","SRPX2","SRY","STAT4","STIL","STX1A","SYNE1","SYNE2","SYT2","TAF1","TAPT1","TARS1","TBC1D24","TBCD","TBCE","TBCK","TBL2","TBX1","TBX15","TBX2","TBX3","TBX5","TBX6","TCIRG1","TCTN2","TCTN3","TDGF1","TELO2","TENT5A","TFE3","TGDS","TGFB2","TGFB3","TGFBR1","TGFBR2","TGIF1","THSD4","TK2","TMCO1","TMEM231","TMEM270","TMEM43","TMEM53","TMEM94","TMTC3","TNFRSF11A","TNFRSF11B","TNFSF11","TNNT1","TNPO3","TOE1","TONSL","TOR1A","TPM2","TPM3","TRAPPC2","TRIO","TRIP11","TRIP4","TRMT10A","TRPM3","TRPS1","TRPV4","TRPV6","TSR2","TTC21B","TTN","TUBB","TUBB3","TWIST1","TWNK","UBA1","UBE3B","UBE4B","UBTF","UCHL1","UFD1","UPF3B","USF3","USP18","VAC14","VAMP1","VANGL1","VCP","VDR","VPS13B","VPS33A","VPS35L","VPS37A","VPS37D","VRK1","VWA1","WASHC5","WBP11","WDR11","WDR19","WDR35","WDR81","WNT1","WNT3","WNT4","WNT5A","WNT7A","WRN","XYLT1","XYLT2","ZBTB20","ZC4H2","ZDHHC9","ZEB2","ZFPM2","ZIC2","ZMIZ1","ZMPSTE24","ZNF668"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_STERNUM_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M34927","pmid":"","exactSource":"HP:0000766","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000766","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_STERNUM_MORPHOLOGY","geneSymbols":["ABCC6","ABL1","ACP5","ACTA1","ACTA2","ACTB","ADAMTSL2","ADGRG1","ADNP","AEBP1","AGA","AGRN","AIFM1","AKT1","ALDH18A1","ALPL","AMER1","ANAPC7","AP1G1","APC2","ARID1B","ARID2","ARL3","ARSB","ASAH1","ASH1L","ASPH","ASXL1","ATAD3A","ATG7","ATP2B1","ATP6V0A2","ATP7A","B3GALT6","B3GAT3","B3GLCT","B4GALT7","BAZ1B","BCL7B","BCOR","BCORL1","BGN","BICD2","BICRA","BMP1","BMP2","BRAF","BRD4","BUB1B","BUD23","CA2","CBL","CBS","CCBE1","CCDC47","CD96","CDC42","CDC42BPB","CDH11","CEP120","CFL2","CHAT","CHRM3","CHRNG","CHST11","CHST14","CHST3","CLIP2","COG4","COL11A2","COL12A1","COL13A1","COL1A2","COL2A1","COL3A1","COL5A1","CPLX1","CREBBP","CRTAP","CSF1R","CSGALNACT1","CTBP1","CTNS","CUL7","CUX1","CYP27B1","CYP2R1","DACT1","DDR2","DHODH","DICER1","DLK1","DNAJC30","DPF2","DSE","DVL1","DVL3","DYM","DYNC2H1","DYNC2I1","DYNC2I2","DYNC2LI1","DYRK1A","EFEMP2","EFNB1","EIF4H","ELMO2","ELN","EMD","EP300","ERF","EVC","EVC2","EXTL3","FAM149B1","FAM20C","FARSB","FBLN5","FBN1","FBN2","FGD1","FGFR1","FGFR2","FGFR3","FGFRL1","FHL1","FIG4","FKBP10","FKBP6","FKTN","FLNA","FLNB","FMR1","FN1","FOXE3","FRA10AC1","FRAS1","FZD2","G6PC3","GALNS","GATA6","GBA1","GDF11","GJA5","GJA8","GLB1","GNB1","GNPTAB","GNPTG","GORAB","GPC3","GPC4","GTF2I","GTF2IRD1","GTF2IRD2","GTPBP2","GUSB","GZF1","HACD1","HBA1","HBA2","HDAC4","HDAC8","HES7","HEY2","HNRNPH1","HNRNPH2","HNRNPK","HPGD","HRAS","HS2ST1","HSD17B4","HSPG2","HUWE1","HYOU1","IFT122","IFT140","IFT172","IFT43","IFT52","IFT80","IGBP1","IGF1R","IHH","IL6ST","INPP5K","INPPL1","INTS1","IPO8","IRX5","ITCH","ITGA7","KANSL1","KAT6A","KDELR2","KDM5C","KDM6B","KIAA0753","KIF7","KLHL41","KLLN","KMT2A","KRAS","KRT5","LAMA5","LBR","LETM1","LGI3","LIG4","LIMK1","LMBRD2","LMNA","LMOD3","LMX1B","LONP1","LOX","LRP2","LRP4","LTBP1","LTBP2","LZTR1","MAF","MAN1B1","MAN2B1","MAP2K1","MAP2K2","MAP3K20","MAP3K7","MAPRE2","MARS2","MAT2A","MATN3","MBTPS1","MBTPS2","MECP2","MED12","MED25","MEG3","MEGF10","MEGF8","MET","METTL27","MFAP5","MGAT2","MLXIPL","MME","MRAS","MSTO1","MTX2","MYF5","MYH11","MYH3","MYL2","MYLK","MYO9A","MYOD1","MYPN","NAA10","NALCN","NARS1","NCF1","NEB","NEK1","NEPRO","NEU1","NF1","NFIX","NHLRC2","NIPBL","NKAP","NKX3-2","NOG","NOTCH2","NOTCH3","NPR3","NRAS","NSD1","NSD2","NSUN2","NUP107","NXN","OBSL1","ORC1","ORC6","OSGEP","PACS1","PCGF2","PDHX","PGAP2","PGAP3","PHEX","PI4KA","PIEZO1","PIEZO2","PIGL","PIGO","PIGQ","PIGS","PIGT","PIGU","PIGV","PIGW","PIGY","PIK3C2A","PIK3CA","PLAA","PLEKHM1","PLOD1","PLOD2","PLXND1","POLR2A","PPIB","PPP1CB","PPP1R15B","PPP1R21","PPP2R1A","PQBP1","PRKG1","PRKG2","PROKR2","PRR12","PTCH1","PTEN","PTF1A","PTPN11","PUF60","PYCR1","PYCR2","PYROXD1","RAB33B","RAB3GAP2","RAB5IF","RAD21","RAF1","RASA2","RBM10","REST","RET","RFC2","RIN2","RIT1","RMRP","RNF135","ROR2","RPS6KA3","RRAS","RRAS2","RSPRY1","RTL1","SCARF2","SCN4A","SDHB","SDHC","SDHD","SEC23B","SEC24D","SELENON","SETBP1","SETD2","SH3PXD2B","SHOC2","SIK3","SIL1","SKI","SLC12A2","SLC16A2","SLC18A3","SLC25A1","SLC2A10","SLC34A1","SLC34A3","SLC37A4","SLC5A7","SLC9A6","SMAD2","SMAD3","SMAD4","SMC1A","SMC3","SMS","SNAP25","SNX14","SOS1","SOS2","SOX10","SOX5","SOX9","SP7","SPECC1L","SPRED1","SPRED2","SPRTN","SRPX2","SRY","STX1A","SYNE1","SYNE2","SYT2","TAF1","TBCD","TBCK","TBL2","TBX3","TBX5","TBX6","TCTN3","TELO2","TGDS","TGFB2","TGFB3","TGFBR1","TGFBR2","THSD4","TMCO1","TMEM231","TMEM270","TMEM43","TMEM94","TNFRSF11A","TNFRSF11B","TNNT1","TOE1","TPM2","TPM3","TRIO","TRIP11","TRIP4","TRMT10A","TRPM3","TRPS1","TRPV4","TTC21B","TUBB","UBTF","UCHL1","UPF3B","USF3","VAC14","VAMP1","VDR","VPS13B","VPS33A","VPS37A","VPS37D","WBP11","WDR11","WDR19","WDR35","WNT5A","WNT7A","XYLT1","XYLT2","ZBTB20","ZDHHC9","ZEB2","ZFPM2","ZMIZ1","ZNF668"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PECTUS_EXCAVATUM":{"collection":"C5:HPO","systematicName":"M34928","pmid":"","exactSource":"HP:0000767","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000767","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PECTUS_EXCAVATUM","geneSymbols":["ABL1","ACTA1","ACTB","ADAMTSL2","ADGRG1","ADNP","AEBP1","AKT1","ALDH18A1","AMER1","ANAPC7","AP1G1","APC2","ARID2","ASPH","ASXL1","ATG7","ATP2B1","ATP6V0A2","ATP7A","B3GALT6","B3GLCT","BAZ1B","BCL7B","BCOR","BCORL1","BICD2","BICRA","BMP2","BRAF","BRD4","BUD23","CA2","CBL","CBS","CCBE1","CCDC47","CD96","CDC42BPB","CDH11","CFL2","CHRM3","CHRNG","CHST11","CHST14","CLIP2","COG4","COL11A2","COL12A1","COL1A2","COL2A1","COL3A1","COL5A1","CREBBP","CRTAP","CSGALNACT1","CUL7","CUX1","DDR2","DHODH","DICER1","DLK1","DNAJC30","DPF2","DVL1","DVL3","DYRK1A","EFEMP2","EFNB1","EIF4H","ELN","EMD","EP300","ERF","EXTL3","FAM20C","FARSB","FBLN5","FBN1","FGD1","FGFR1","FGFR3","FHL1","FKBP6","FKTN","FLNA","FLNB","FMR1","FZD2","GBA1","GDF11","GJA5","GJA8","GNB1","GNPTAB","GPC3","GPC4","GTF2I","GTF2IRD1","GTF2IRD2","GUSB","HACD1","HDAC8","HES7","HNRNPK","HPGD","HS2ST1","HSD17B4","HSPG2","HUWE1","IFT122","IFT43","IFT52","IGBP1","IGF1R","IHH","INPPL1","INTS1","IPO8","IRX5","ITCH","ITGA7","KANSL1","KAT6A","KDELR2","KDM5C","KDM6B","KIF7","KLHL41","KLLN","KMT2A","KRAS","LIG4","LIMK1","LMBRD2","LMNA","LMOD3","LMX1B","LOX","LRP4","LTBP1","LTBP2","LZTR1","MAF","MAN2B1","MAP2K1","MAP2K2","MAP3K20","MAP3K7","MAPRE2","MATN3","MBTPS2","MECP2","MED12","MEG3","MEGF10","MEGF8","MET","METTL27","MFAP5","MGAT2","MLXIPL","MRAS","MSTO1","MTX2","MYF5","MYH3","MYL2","MYOD1","MYPN","NAA10","NARS1","NCF1","NEB","NEPRO","NF1","NFIX","NHLRC2","NIPBL","NKAP","NOG","NOTCH3","NPR3","NRAS","NSD1","NSUN2","NUP107","NXN","OSGEP","PACS1","PCGF2","PDHX","PGAP2","PGAP3","PI4KA","PIEZO1","PIEZO2","PIGL","PIGO","PIGQ","PIGT","PIGU","PIGV","PIGW","PIGY","PIK3CA","PLOD1","PLXND1","POLR2A","PPIB","PPP1CB","PPP1R15B","PPP2R1A","PQBP1","PROKR2","PRR12","PTCH1","PTEN","PTPN11","PUF60","PYCR1","PYROXD1","RAB3GAP2","RAB5IF","RAD21","RAF1","RASA2","RBM10","RET","RFC2","RIN2","RIT1","ROR2","RPS6KA3","RRAS","RRAS2","RTL1","SCARF2","SCN4A","SDHB","SDHC","SDHD","SEC23B","SEC24D","SELENON","SETD2","SH3PXD2B","SHOC2","SIK3","SKI","SLC16A2","SLC2A10","SLC37A4","SLC9A6","SMAD3","SMC1A","SMC3","SMS","SOS1","SOS2","SOX10","SPECC1L","SPRED1","SPRED2","SPRTN","SRPX2","SRY","STX1A","SYNE1","SYNE2","TAF1","TBCD","TBCK","TBL2","TBX5","TCTN3","TELO2","TGDS","TGFB3","TGFBR1","TGFBR2","THSD4","TMCO1","TMEM231","TMEM270","TMEM43","TMEM94","TPM2","TPM3","TRIO","TRIP4","TRMT10A","TRPM3","TUBB","UPF3B","USF3","VPS13B","VPS33A","VPS37D","WBP11","WDR11","WDR19","WDR35","WNT5A","XYLT1","ZBTB20","ZDHHC9","ZEB2","ZMIZ1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PECTUS_CARINATUM":{"collection":"C5:HPO","systematicName":"M34929","pmid":"","exactSource":"HP:0000768","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000768","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PECTUS_CARINATUM","geneSymbols":["ACP5","ACTB","AGA","AGRN","AP1G1","ARL3","ARSB","ASH1L","ATAD3A","ATP2B1","ATP7A","B3GALT6","B3GAT3","B4GALT7","BGN","BMP1","BMP2","BRAF","CBL","CBS","CHAT","CHRM3","CHST3","COG4","COL11A2","COL13A1","COL2A1","CSF1R","DDR2","DVL1","DVL3","DYM","EVC","EVC2","FAM149B1","FBN1","FBN2","FGFR2","FKBP10","FLNB","FN1","FZD2","G6PC3","GALNS","GLB1","GNPTG","GORAB","GPC3","GPC4","GTPBP2","GUSB","GZF1","HBA1","HBA2","HDAC4","HNRNPH1","HNRNPH2","HRAS","HSPG2","HYOU1","IHH","IL6ST","INPP5K","IPO8","KANSL1","KIF7","KRAS","KRT5","LGI3","LZTR1","MAN1B1","MAN2B1","MAP2K1","MARS2","MBTPS1","MBTPS2","MED25","MEGF8","MFAP5","MME","MRAS","MYF5","MYH3","MYO9A","NALCN","NEK1","NEU1","NF1","NKAP","NKX3-2","NOTCH2","NRAS","NXN","OBSL1","ORC1","PCGF2","PIEZO2","PIGS","PLAA","PLEKHM1","PLOD2","PPIB","PPP1CB","PPP1R21","PTF1A","PTPN11","PYCR1","PYCR2","RAB33B","RAB3GAP2","RAD21","RAF1","RASA2","RIT1","RMRP","RNF135","ROR2","RPS6KA3","RRAS","RRAS2","SIL1","SKI","SLC12A2","SLC18A3","SLC25A1","SLC2A10","SLC37A4","SLC5A7","SMAD3","SMS","SNAP25","SNX14","SOS1","SOS2","SOX5","SOX9","SP7","SPRED2","SYT2","TBCD","TBX3","TBX6","TELO2","TGDS","TGFB3","TGFBR1","TGFBR2","TNFRSF11A","TNFRSF11B","TNNT1","TOE1","TRIP11","TRPS1","TRPV4","UBTF","UCHL1","UPF3B","VAMP1","VPS33A","VPS37A","WNT5A","WNT7A","XYLT1","XYLT2","ZDHHC9","ZEB2","ZNF668"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_BREAST":{"collection":"C5:HPO","systematicName":"M34930","pmid":"","exactSource":"HP:0000769","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000769","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_BREAST","geneSymbols":["AAGAB","AARS1","ABCD4","ACD","ACOX1","ACTB","ADNP","AFF4","AIP","AKT1","AKT2","ALG11","ALG12","ALG14","ALG2","ALG3","ALG8","ALG9","ALMS1","AMER1","AMMECR1","ANOS1","ANTXR1","APC","AR","ARCN1","ARHGAP31","ARHGEF2","ASH1L","ASXL1","ASXL3","ATM","ATN1","ATR","AXIN2","AXL","B3GLCT","B4GALT1","BAP1","BARD1","BICRA","BLM","BMP15","BMP6","BMPR1A","BNC1","BRAF","BRCA1","BRCA2","BRD4","BRIP1","C18orf32","CACNA1C","CARS1","CASP10","CASP8","CBL","CCDC141","CCDC22","CCDC47","CDC45","CDC6","CDH1","CDH11","CDH2","CDH23","CDK13","CDK4","CDKN1A","CDKN1B","CDKN2A","CDKN2B","CDKN2C","CDT1","CERT1","CHAMP1","CHD7","CHEK2","CHRNG","CHST3","CILK1","CKAP2L","COG1","COG7","COL14A1","COLEC10","COLEC11","COQ8A","COX7B","CPE","CPLX1","CPT2","CSPP1","CTBP1","CTNNB1","CUL4B","CYB5A","CYP11A1","CYP11B1","CYP17A1","CYP19A1","CYP21A2","DCC","DDX6","DEF6","DES","DHCR7","DHODH","DHX37","DLK1","DMRT3","DPAGT1","DPM1","DPYSL5","DUSP6","DYRK1A","EBF3","EDA","EDARADD","EED","EFNB1","ERBB2","ERCC2","ERCC3","ERCC6","ERMARD","ESR1","EXOC2","EZH2","FAS","FASLG","FAT4","FEZF1","FGF17","FGF8","FGFR1","FGFR2","FIG4","FLRT3","FMR1","FOXA2","FOXL2","FRAS1","FREM2","FSHB","FSHR","GATA4","GDF11","GLI2","GMNN","GNAS","GNB2","GNE","GNPTAB","GNRH1","GNRHR","GPC3","GPC4","GPR101","GRIP1","GTF2E2","GTF2H5","H3-3A","H4C9","HDAC4","HDAC8","HESX1","HFE","HMMR","HNRNPK","HPGD","HS2ST1","HS6ST1","HSD17B3","HSD3B2","IBA57","IDH1","IDH2","IGF1R","IKBKG","IL17RD","INSR","INTU","IRF4","ITGA3","JARID2","KANSL1","KAT6A","KATNB1","KCTD1","KDM1A","KDM5B","KDM6A","KDM6B","KIAA0586","KIF15","KIFBP","KISS1","KISS1R","KLLN","KMT2B","KMT2D","KNSTRN","KRAS","KRT10","LAMA5","LAS1L","LBR","LEP","LEPR","LETM1","LHB","LHX4","LMNA","LZTR1","MAB21L1","MADD","MAF","MAN1B1","MAP2K1","MAP3K1","MAPRE2","MASP1","MBD4","MC1R","MDH2","MDM2","MECP2","MEFV","MEG3","MEGF8","MEN1","MGAT2","MGMT","MITF","MLH1","MPLKIP","MRAS","MRE11","MRPS22","MSH2","MSH4","MSH6","NBN","NDNF","NECTIN1","NELFA","NF1","NFIX","NHLH2","NIN","NIPBL","NONO","NQO2","NR0B1","NR5A1","NRAS","NSD2","NSMF","NTHL1","NUP107","NUP188","OPCML","ORC1","ORC4","ORC6","OTX2","PACS1","PALB2","PALLD","PDE11A","PEX2","PEX3","PGAP2","PGAP3","PHB1","PHF6","PIGG","PIGL","PIGN","PIGO","PIGT","PIGV","PIGW","PIGY","PIK3CA","PIK3CD","PLXND1","PMM2","PNPLA6","POC1A","POLD1","POLE","POLR3A","POLR3H","PORCN","POT1","POU1F1","PPM1D","PPP1CB","PPP2R5D","PRKAR1A","PRKCD","PRKN","PRLR","PROK2","PROKR2","PROP1","PSAT1","PSMB8","PSMC3IP","PTEN","PTPN11","PTPRF","RAB18","RAB3GAP2","RABL3","RAD21","RAD50","RAD51","RAD51C","RAD51D","RAD54L","RAF1","RASA2","RASGRP1","RB1CC1","RBM28","RELA","RERE","REV3L","RFT1","RIPK4","RIT1","RNF113A","RNF216","RNF43","RPS20","RRAS","RRAS2","RSPO1","RSPO2","RTL1","SCN4A","SDHB","SDHC","SDHD","SEC23B","SEMA3A","SEMA3E","SEMA4A","SET","SETBP1","SH3PXD2B","SLC22A18","SLC25A24","SLC25A46","SLC29A3","SLC35A2","SLC6A17","SLCO2A1","SMAD4","SMARCA2","SMC1A","SMC3","SMC5","SMCHD1","SMPD4","SMS","SOS1","SOS2","SOX10","SOX3","SOX6","SOX9","SPIDR","SPRED2","SPRY4","SPTBN1","SRA1","SRD5A3","SRY","STAG1","STK11","STT3A","TAC3","TACR3","TARS1","TBL1XR1","TBX3","TCF20","TCF4","TERF2IP","TERT","TFAP2A","TFAP2B","TIMM50","TMCO1","TMEM53","TMEM94","TNRC6B","TOGARAM1","TP53","TP63","TRAF7","TRRAP","TTC5","TUBB","TWIST1","TWIST2","UBA2","UBE2A","UBR1","USF3","USP9X","VAC14","VAMP7","VPS35L","WAC","WASF1","WASHC5","WDR11","WDR19","WDR37","WLS","WNT3","WNT7A","WRN","WT1","WWOX","XRCC3","YY1","ZBTB20","ZC4H2","ZEB2","ZFPM2","ZFTA","ZMYND11","ZNF148","ZSWIM7"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_GYNECOMASTIA":{"collection":"C5:HPO","systematicName":"M34931","pmid":"","exactSource":"HP:0000771","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000771","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GYNECOMASTIA","geneSymbols":["AFF4","AIP","AKT1","AKT2","ALMS1","ANOS1","AR","AXL","BMP6","CCDC141","CDH23","CHD7","COQ8A","CPE","CUL4B","CYB5A","CYP11A1","CYP11B1","CYP17A1","CYP19A1","CYP21A2","DCC","DES","DHX37","DMRT3","DUSP6","ERMARD","FEZF1","FGF17","FGF8","FGFR1","FLRT3","FMR1","GATA4","GNRH1","GNRHR","HDAC8","HESX1","HFE","HPGD","HS6ST1","HSD17B3","HSD3B2","IL17RD","ITGA3","KISS1","KISS1R","KLLN","LAS1L","LEP","LEPR","LHB","MAP3K1","MECP2","MEN1","NDNF","NHLH2","NR0B1","NR5A1","NSMF","PDE11A","PHF6","PIK3CA","PNPLA6","POLR3A","PRKAR1A","PROK2","PROKR2","PSMB8","PTEN","RBM28","RNF216","RSPO1","SCN4A","SDHB","SDHC","SDHD","SEC23B","SEMA3A","SEMA3E","SH3PXD2B","SLC29A3","SLCO2A1","SMC5","SMCHD1","SOX10","SOX9","SPRY4","SPTBN1","SRA1","SRY","STK11","TAC3","TACR3","TCF20","TMEM53","USF3","VAMP7","WDR11","WT1","WWOX","ZBTB20","ZFPM2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_RIB_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M34932","pmid":"","exactSource":"HP:0000772","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000772","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RIB_MORPHOLOGY","geneSymbols":["ABCC9","ABCD4","ACTA1","ACTB","ADA","ADAMTS10","AFF3","AIFM1","ALDH1A2","ALG12","ALPL","AMER1","ANK1","ANKRD11","APC","ARSB","ARSK","ARSL","ATP6V1B2","ATP7A","ATR","B3GALT6","B3GAT3","B4GAT1","BANF1","BGN","BIN1","BMP2","BMPER","C2CD3","CA2","CASZ1","CCDC22","CCDC8","CDC45","CDC6","CDON","CDT1","CENPJ","CEP120","CEP152","CFAP410","CHD7","CHRM3","CHRNA1","CHRND","CHRNG","CHST3","CLCN7","COG1","COL10A1","COL11A1","COL11A2","COL1A1","COL1A2","COL2A1","COMP","CPLANE1","CPLX1","CREB3L1","CRTAP","CSPP1","CTBP1","CTNS","CUL7","CYP27B1","CYP2R1","DACT1","DDR2","DDRGK1","DHCR7","DISP1","DLK1","DLL1","DLL3","DNAJC21","DNM2","DNMT3A","DONSON","DPYSL5","DYM","DYNC2H1","DYNC2I1","DYNC2I2","DYNC2LI1","DYNLT2B","EBP","EFL1","ERMARD","ESCO2","EVC","EVC2","EXOC6B","EXT1","EXT2","EZH2","FAM111A","FBN1","FERMT1","FGF8","FGFR3","FGFRL1","FIG4","FLI1","FLNA","FLNB","FOXF1","FOXH1","FUZ","GABRD","GALNS","GAS1","GATA6","GDF11","GDF3","GDF6","GLB1","GLE1","GLI2","GLI3","GMNN","GNPTAB","GNS","GPC3","GPC4","GPX4","GUSB","HDAC6","HES7","HGSNAT","HNF1B","HNRNPR","HOXD13","HSPG2","IDS","IDUA","IFT122","IFT140","IFT172","IFT43","IFT57","IFT80","IFT81","IHH","IKBKG","IL1RN","INPPL1","INTU","IRF6","JAG1","KCNAB2","KCNJ8","KIAA0586","KIAA0753","KLHL40","KLHL41","KMT2A","KYNU","LAMA5","LBR","LETM1","LFNG","LIFR","LMNA","LMOD3","LMX1B","LRP4","LRP5","LUZP1","MAF","MAMLD1","MAN2B1","MAP3K7","MATN3","MEG3","MEOX1","MESP2","MGP","MMP13","MMP23B","MTM1","MTMR14","MTX2","MUSK","MYF5","MYF6","MYH3","NAGLU","NALCN","NEB","NEK1","NEK9","NELFA","NFASC","NIPBL","NKX3-2","NODAL","NOG","NSD2","NSDHL","NUP88","NXN","OBSL1","OCRL","ODC1","ORC1","ORC4","ORC6","P3H1","P4HB","PAICS","PAM16","PAX3","PCYT1A","PDGFRB","PDPN","PHEX","PIGG","PLCB3","PLOD1","POLR3A","POR","PORCN","PPIB","PPP3CA","PRDM16","PRIM1","PRKCZ","PRKG2","PTCH1","PTDSS1","PTH1R","PTPN11","PUF60","RBM8A","RECQL4","RERE","RIPPLY2","RMRP","RNU12","RNU4ATAC","ROR2","RPS19","RPS26","RRAS2","RSPO2","RTL1","RTTN","RUNX2","RYR1","SALL1","SBDS","SCARF2","SCN4A","SCUBE3","SEC24D","SEMA3E","SERPINH1","SETBP1","SF3B2","SF3B4","SGSH","SH2B1","SHH","SIX3","SIX6","SKI","SLC26A1","SLC26A2","SLC34A1","SLC34A3","SLC35D1","SMAD4","SMO","SNRPB","SNX10","SON","SOST","SOX2","SOX9","SP7","SPEN","SRCAP","SRP54","STIL","TAPT1","TBC1D24","TBCE","TBCK","TBX5","TBX6","TCIRG1","TDGF1","TENT5A","TFE3","TGIF1","TMCO1","TMEM53","TNFRSF11A","TNFSF11","TOR1A","TRIP11","TRPV4","TRPV6","TTC21B","UBA1","UBE4B","USP18","VAC14","VANGL1","VDR","VPS35L","WASHC5","WDR19","WDR35","WNT1","WNT3","WNT4","WNT7A","XYLT1","ZIC2","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SHORT_RIBS":{"collection":"C5:HPO","systematicName":"M34933","pmid":"","exactSource":"HP:0000773","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000773","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_RIBS","geneSymbols":["ALG12","ALPL","C2CD3","CEP120","COL11A1","COL11A2","COL2A1","CSPP1","CUL7","DDR2","DDRGK1","DLK1","DYNC2H1","DYNC2I1","DYNC2I2","DYNC2LI1","DYNLT2B","EVC","EVC2","EZH2","FGFR3","FIG4","FLNA","GNPTAB","GPC3","GPC4","GPX4","HSPG2","IFT122","IFT140","IFT172","IFT43","IFT80","IFT81","IHH","INPPL1","INTU","KIAA0586","LAMA5","LBR","LMX1B","MEG3","MYF5","NEK1","NKX3-2","NSDHL","ORC1","ORC6","PAM16","PLCB3","PORCN","PTCH1","PTH1R","RNU12","RTL1","RUNX2","SCARF2","SETBP1","SF3B4","SLC26A2","SLC35D1","SMO","TAPT1","TRIP11","TRPV4","TRPV6","UBA1","VAC14","WDR35"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_DIAPHRAGM":{"collection":"C5:HPO","systematicName":"M34934","pmid":"","exactSource":"HP:0000775","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000775","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_DIAPHRAGM","geneSymbols":["ABL1","ACTA1","ADAT3","ADGRG6","ALDH1A2","ALG9","ANAPC7","AR","ARID1B","ARID2","ASNS","B3GAT3","BRD4","CD96","CDC42BPB","CHRNG","CHST3","CHUK","COX7B","CPLX1","CTBP1","DACT1","DHCR7","DIS3L2","DLL3","DNAJC19","EFEMP2","EFNB1","FBLN5","FLNA","GATA4","GATA6","GDAP1","GLI3","GNB2","GNE","GPC3","GPC4","HCCS","HDAC4","HDAC8","HES7","HOXD13","HYLS1","IGHMBP2","KCNA1","KDM3B","KDM6A","KIAA0586","KIF7","KLHL40","KLHL41","KMT2D","LETM1","LFNG","LMOD3","LONP1","LRP2","LTBP4","MAF","MAFB","MAMLD1","MAP3K7","MCTP2","MEGF10","MEGF8","MESP2","MID1","MN1","MTHFR","MTM1","MYOD1","MYRF","NDUFAF5","NDUFB11","NEB","NELFA","NIPBL","NR2F2","NSD2","NUAK2","PBX1","PCNA","PIGG","PIGN","PLOD3","POGZ","PORCN","PPM1D","RAD21","RARB","REEP1","RIPPLY2","RLIM","RPS26","RPS28","RSPO2","SEC31A","SF3B4","SH2B1","SIN3A","SLC2A10","SMARCB1","SMC1A","SMC3","STAG2","STRA6","TRAIP","TRIP4","TRRAP","VANGL2","WLS","WNT3","WNT4","WNT7B","WT1","ZFPM2","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CONGENITAL_DIAPHRAGMATIC_HERNIA":{"collection":"C5:HPO","systematicName":"M34935","pmid":"","exactSource":"HP:0000776","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000776","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONGENITAL_DIAPHRAGMATIC_HERNIA","geneSymbols":["ABL1","ADAT3","ALDH1A2","ALG9","ANAPC7","AR","ARID1B","B3GAT3","BRD4","CD96","CDC42BPB","CHRNG","CHST3","CHUK","COX7B","CPLX1","CTBP1","DACT1","DHCR7","DIS3L2","DLL3","EFEMP2","EFNB1","FBLN5","FLNA","GATA4","GATA6","GLI3","GPC3","GPC4","HCCS","HDAC4","HDAC8","HES7","HOXD13","KCNA1","KDM3B","KDM6A","KIAA0586","KIF7","KMT2D","LETM1","LFNG","LONP1","LRP2","LTBP4","MAF","MAFB","MAMLD1","MAP3K7","MCTP2","MESP2","MID1","MN1","MTHFR","MYRF","NDUFAF5","NDUFB11","NELFA","NIPBL","NR2F2","NSD2","NUAK2","PBX1","PCNA","PIGG","PIGN","POGZ","PORCN","PPM1D","RAD21","RARB","RIPPLY2","RLIM","RPS26","RPS28","RSPO2","SEC31A","SF3B4","SH2B1","SIN3A","SLC2A10","SMARCB1","SMC1A","SMC3","STAG2","STRA6","TRAIP","TRRAP","VANGL2","WLS","WNT3","WNT4","WNT7B","WT1","ZFPM2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_THYMUS_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M34936","pmid":"","exactSource":"HP:0000777","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000777","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_THYMUS_MORPHOLOGY","geneSymbols":["ADA","AK2","AKT1","ALG14","ANTXR2","ARVCF","ATM","CDKN1A","CDKN1B","CDKN2B","CDKN2C","CHD7","COMT","DCLRE1C","EPG5","ERCC8","FRAS1","FREM2","G6PC3","GP1BB","HIRA","IL2RG","JMJD1C","KMT2D","LTBP4","MCM10","MEN1","MTHFR","NEK9","NKX2-6","NSMCE3","NUAK2","ORAI1","PEX5","PI4KA","PLXND1","POLR1B","POLR1C","POLR1D","POLR3A","PTEN","RAG1","RAG2","RORC","RREB1","SEC24C","SKIC2","SKIC3","TBX1","TBX2","TCOF1","TFAP2A","TP63","TTC7A","UFD1","VANGL2","WAS","WIPF1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_SCAPULA_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M34937","pmid":"","exactSource":"HP:0000782","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000782","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SCAPULA_MORPHOLOGY","geneSymbols":["ACTA1","ACTB","ADA","ADA2","ALG14","ALG2","ANO5","ANXA11","ASH1L","ATP6V0A2","BAG3","BICD2","BIN1","BRAF","C19orf12","CAPN3","CCDC8","CDH2","COL11A1","COL11A2","COL12A1","COL2A1","COL3A1","COL6A1","COL6A2","COL6A3","COLQ","CRPPA","CSGALNACT1","CUL7","DLK1","DNM1L","DPAGT1","DSTYK","DYM","DYSF","EFNB1","EMD","EMILIN1","EXT1","EXT2","EYA1","FBN1","FGFR1","FGFR3","FHL1","FIG4","FLNA","FLNB","FLNC","FRG1","GATA1","GDF11","GDF3","GDF6","GFPT1","GMPPB","GNE","GNPTAB","GPX4","GSC","GYG1","HEATR3","HSPG2","INPPL1","KBTBD13","KCNJ2","KLHL41","LAMB2","LBR","LEMD3","LGI4","LMNA","LMX1B","LRIF1","LYSET","MAP3K7","MEG3","MEOX1","MYBPC1","MYH2","MYH7","MYPN","NEB","NEFL","NPR2","NSDHL","OBSL1","OPA1","ORC1","PAX1","PAX3","PCNT","PLIN4","POGLUT1","POLG","POMT2","POR","PRR12","PSMB8","PTCH1","PTPN11","PUS1","PYROXD1","RAF1","RIPK4","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS7","RSPO2","RTL1","RUNX2","RYR1","RYR3","SCARF2","SCN4A","SEPTIN9","SF3B4","SGCA","SGCB","SGCD","SGCG","SLC35D1","SMCHD1","SMPX","SOST","SOX9","SPEG","SPRED2","SPTLC1","SQSTM1","SYNE1","SYNE2","TBX15","TBX2","TBX3","TBX5","TGFB3","TK2","TMCO1","TMEM43","TNNT1","TNPO3","TPM2","TPM3","TRIO","TRIP11","TRPS1","TRPV4","TSR2","TTN","TWNK","VAC14","VCP","VWA1","WBP11","WDR35"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PRIMARY_AMENORRHEA":{"collection":"C5:HPO","systematicName":"M34938","pmid":"","exactSource":"HP:0000786","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000786","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PRIMARY_AMENORRHEA","geneSymbols":["ANOS1","AR","AXL","BMP15","BMPR1B","BNC1","BRD4","CAV1","CCDC141","CDON","CHD7","CISD2","CLPP","CPE","CTDP1","CYB5A","CYP17A1","CYP19A1","DCC","DHH","DHX37","DMRT3","DUSP6","EIF2B1","EIF2B4","ERAL1","ESR1","ESR2","FEZF1","FGF17","FGF8","FGFR1","FIGLA","FLRT3","FSHB","FSHR","GALT","GATA3","GATA4","GDF9","GNRH1","GNRHR","GPR161","HDAC8","HERC2","HESX1","HS6ST1","HSD17B4","IL17RD","ITGA8","KISS1","KISS1R","LARS2","LEP","LEPR","LHX4","MAGEL2","MAP3K1","MCM8","MCM9","MKRN3","MRPS22","MSH4","MSTO1","NDN","NDNF","NHLH2","NIN","NIPBL","NOBOX","NPAP1","NR0B1","NR5A1","NSMF","NUP107","OCA2","PCSK1","PEX1","PEX6","POF1B","POLG","POLR3H","POR","PPARG","PROK2","PROKR2","PRORP","PSMC3IP","PWAR1","PWRN1","RAD21","RNF216","ROBO1","SEMA3A","SEMA3E","SIM1","SMC1A","SMC3","SMCHD1","SNORD115-1","SNORD116-1","SNRPN","SOHLH1","SOX10","SOX9","SPIDR","SPRY4","SRA1","SRY","STAG3","SYCE1","TAC3","TACR3","TP63","TRMT10A","TWNK","VAMP7","WDR11","WNT4","WT1","WWOX","YARS1","ZFPM2","ZSWIM7"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NEPHROLITHIASIS":{"collection":"C5:HPO","systematicName":"M34939","pmid":"","exactSource":"HP:0000787","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000787","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEPHROLITHIASIS","geneSymbols":["ACVRL1","ADAMTSL1","ADCY10","AGPAT2","AGXT","AIP","ALG5","ALG9","ANTXR1","AP2S1","APRT","ARMC5","ARSK","ATP6V1B1","ATP7B","BAZ1B","BCL7B","BICC1","BSCL2","BTNL2","BUD23","CA2","CACNA1D","CAMKMT","CASR","CDC73","CDKN1A","CDKN1B","CDKN1C","CDKN2B","CDKN2C","CEACAM3","CEACAM6","CFTR","CHKA","CHST14","CLCA4","CLCN5","CLDN10","CLDN16","CLDN19","CLDN2","CLIP2","COQ6","CREBBP","CTH","CTNS","CYP24A1","DCTN4","DNAJB11","DNAJC30","DSE","EDNRA","EIF4H","ELN","ENG","EP300","FBN1","FKBP6","G6PC1","GANAB","GCLC","GCM2","GDF2","GNA11","GNAS","GRHPR","GSTM3","GTF2I","GTF2IRD1","GTF2IRD2","HFE","HGD","HLA-DRB1","HMOX1","HNF1B","HOGA1","HPRT1","HSPG2","IFT140","IGF2","KCNH1","KCNN4","KCNQ1","KCNQ1OT1","KL","KRT17","LIMK1","MEN1","METTL27","MGME1","MIF","MLXIPL","MOCOS","MOCS1","MOCS2","MYL9","NCF1","NHERF1","NOD2","OCRL","OPLAH","OXGR1","PAX2","PIDD1","PKD1","PKD2","PLCD1","PLG","PPM1B","PREPL","PRPS1","RFC2","ROR2","SERPINA1","SERPINH1","SETBP1","SI","SLC11A1","SLC1A1","SLC22A12","SLC26A1","SLC26A9","SLC2A9","SLC34A1","SLC34A2","SLC34A3","SLC36A2","SLC37A4","SLC3A1","SLC4A1","SLC5A1","SLC6A14","SLC7A9","SLC9A3","SMAD4","SPRED1","STX1A","TBC1D7","TBL2","TGFB1","TMEM270","USP8","VDR","VPS37D","XDH"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INFERTILITY":{"collection":"C5:HPO","systematicName":"M34940","pmid":"","exactSource":"HP:0000789","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000789","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INFERTILITY","geneSymbols":["ACTL9","ADGRG2","AK7","AKAP3","AMH","AMHR2","AR","ARMC2","ASTL","AURKC","AXL","BLM","BMP6","BPY2","BRAF","BRDT","BTG4","C11orf80","C14orf39","C2CD6","CATIP","CATSPER1","CATSPER2","CCDC103","CCDC141","CCDC34","CCDC39","CCDC40","CCDC62","CCDC65","CCNO","CDC14A","CDC20","CDH23","CDY1","CDY2A","CEP112","CEP19","CFAP221","CFAP251","CFAP298","CFAP300","CFAP43","CFAP44","CFAP47","CFAP52","CFAP58","CFAP65","CFAP70","CFAP74","CFTR","CLDN2","CT55","CTNS","CYP17A1","CYP19A1","DAZ1","DAZ2","DAZ3","DAZ4","DDX3Y","DHH","DHX37","DMRT3","DNAAF1","DNAAF11","DNAAF2","DNAAF3","DNAAF4","DNAAF5","DNAAF6","DNAH1","DNAH10","DNAH11","DNAH17","DNAH2","DNAH5","DNAH7","DNAH8","DNAH9","DNAI1","DNAI2","DNAJB13","DNAL1","DNALI1","DNHD1","DPY19L2","DRC1","DUSP6","DZIP1","FANCA","FANCM","FBXO43","FCGR2A","FEZF1","FGF17","FIGLA","FKBP6","FOXA2","FOXJ1","FOXL2","FSHB","FSIP2","GALT","GAS2L2","GAS8","GATA4","GBA2","GCM2","GCNA","GGN","GGPS1","GLI2","GNRH1","GNRHR","H6PD","HERC2","HESX1","HFE","HJV","HLA-DQA1","HLA-DQB1","HSD17B3","HSF2BP","HSFY1","HYDIN","IFT74","IQCN","KCNU1","KDM5D","KLHL10","KPNA7","LHCGR","LHX4","LRRC56","M1AP","MAGEL2","MAP2K1","MAP3K1","MCIDAS","MEI1","MEIOB","MKRN3","MNS1","MOS","MOV10L1","MSH4","MSH5","NANOS1","NDN","NEK10","NLRP2","NLRP5","NME5","NME8","NPAP1","NR0B1","NR3C1","NR5A1","OCA2","ODAD1","ODAD2","ODAD3","ODAD4","OFD1","OTX2","PADI6","PANX1","PATL2","PDHA2","PGR","PLCZ1","PLIN1","PMFBP1","PNLDC1","POF1B","POU1F1","PPP2R3C","PRLR","PROP1","PRY","PRY2","PSMC3IP","PTPN11","PWAR1","PWRN1","QRICH2","RBMY1A1","REC114","RNF212","RPGR","RPL10L","RPS4Y2","RSPH1","RSPH3","RSPH4A","RSPH9","SEMA3E","SEPTIN12","SHOC1","SIM1","SLC26A8","SNORD115-1","SNORD116-1","SNRPN","SOHLH1","SOX3","SOX9","SPAG1","SPAG17","SPATA16","SPEF2","SPINK2","SPRY4","SRA1","SRY","SSX1","STAG3","STK36","STRC","STUB1","SUN5","SYCE1","SYCP2","SYCP3","TDRD9","TEKT3","TERB1","TERB2","TEX11","TEX14","TEX15","TGFB1","TLE6","TRIP13","TSGA10","TSPY1","TTC12","TTC21A","TTC29","TUBB8","USP26","USP9Y","VAMP7","VCY","WDR11","WDR19","WEE2","WT1","WWOX","XKRY","XRCC2","ZFP36L2","ZFPM2","ZMYND10","ZMYND15","ZP1","ZP2","ZP3","ZPBP","ZSWIM7"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_URIC_ACID_NEPHROLITHIASIS":{"collection":"C5:HPO","systematicName":"M43258","pmid":"","exactSource":"HP:0000791","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000791","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_URIC_ACID_NEPHROLITHIASIS","geneSymbols":["APRT","HPRT1","PRPS1","SLC22A12","SLC2A9"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MEMBRANOPROLIFERATIVE_GLOMERULONEPHRITIS":{"collection":"C5:HPO","systematicName":"M34941","pmid":"","exactSource":"HP:0000793","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000793","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MEMBRANOPROLIFERATIVE_GLOMERULONEPHRITIS","geneSymbols":["C1QA","C3","DGKE","DNASE2","LMNB2","PGM3","SLC37A4","SOX18","ZNFX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_URETHRA":{"collection":"C5:HPO","systematicName":"M34942","pmid":"","exactSource":"HP:0000795","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000795","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_URETHRA","geneSymbols":["ABL1","ACTA1","ADA2","ADAT3","AFF4","ALG12","ANKRD11","APC2","AR","ARCN1","ARID1A","ARID1B","ARID2","ARL6IP6","ARVCF","ARX","ATP6AP2","ATR","ATRX","B3GLCT","B9D1","B9D2","BAZ1B","BCL7B","BCOR","BDNF","BICRA","BNC2","BRAF","BRCA1","BRCA2","BRD4","BRIP1","BUB1B","BUD23","C2CD3","CARS1","CASZ1","CC2D2A","CCDC22","CCDC8","CDC42","CDC42BPB","CDC45","CDC6","CDCA7","CDH11","CDKN1C","CDT1","CEP152","CEP290","CHRM3","CHRNA3","CHRNG","CILK1","CLIP2","CLMP","COG1","COL3A1","COL7A1","COLEC10","COLEC11","COMT","COX7B","CPLX1","CREBBP","CSPP1","CTBP1","CTC1","CUL4B","CUL7","CUX1","CYB5A","CYP11A1","CYP17A1","CYP21A2","DACT1","DCHS1","DHCR7","DHX37","DKC1","DLL3","DMRT3","DNAJC19","DNAJC30","DPF2","DPP9","DPYSL5","DVL1","DVL3","DYNC2H1","DYNC2I1","DYNC2I2","DYNC2LI1","DYRK1A","EFEMP2","EFNB1","EHMT1","EIF4H","ELN","EP300","EPG5","ERCC4","ERMARD","ESCO2","EVC","EVC2","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FAT4","FBLN5","FBXL4","FDFT1","FERMT1","FGFR1","FGFR2","FGFRL1","FIG4","FKBP6","FLNA","FLT4","FOCAD","FOXC1","FOXF1","FRAS1","FREM2","FZD2","GABRD","GATA1","GATA4","GATAD2B","GLI1","GLI3","GMNN","GNA11","GP1BB","GPC3","GPC4","GRB10","GRIP1","GTF2I","GTF2IRD1","GTF2IRD2","H4C11","HBA1","HBA2","HCCS","HDAC8","HEATR3","HES7","HIRA","HLA-B","HMGA2","HNF1B","HNRNPH1","HOXA13","HOXD13","HPSE2","HSD17B3","HSD3B2","HSPG2","HUWE1","HYLS1","IFT80","IGF2","IKZF1","ISL1","ITGA6","ITGB4","JMJD1C","KANSL1","KAT5","KAT6B","KCNAB2","KDM1A","KDM3B","KDM5B","KDM6A","KIAA0586","KIAA0753","KIF7","KIFBP","KLF1","KLHL40","KLHL41","KMT2D","KRAS","LAMA3","LAMB3","LAMC2","LETM1","LFNG","LIG4","LIMK1","LMNA","LMOD3","LRIG2","LRPPRC","LSS","LTBP1","LUZP1","MAB21L2","MAD2L2","MAMLD1","MAP2K1","MAP3K1","MAP3K7","MAPRE2","MBTPS2","MCTP2","MECP2","MED12","MED12L","MED25","MESP2","METTL27","MID1","MKKS","MKS1","MLXIPL","MMP1","MMP23B","MNX1","MTM1","MTOR","MYMK","MYMX","MYRF","NAA10","NCF1","NDUFA6","NDUFA8","NDUFB11","NDUFB7","NDUFS4","NEB","NELFA","NHP2","NIPBL","NKX2-1","NOP10","NOTCH2","NPM1","NR0B1","NR2F2","NR5A1","NSD1","NSD2","NSUN2","OBSL1","OGT","ORC1","ORC4","ORC6","OTUD5","PAICS","PALB2","PARN","PAX6","PCNT","PDE4D","PDPN","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PIEZO2","PIGG","PIGN","PITX2","PKP1","PLAG1","PLD1","PLEC","PNPLA6","POLA1","POLE","POLR3A","POR","PPP1R12A","PQBP1","PRDM16","PRKACA","PRKACB","PRKCZ","PRPS1","PSMD12","PSPH","PTDSS1","PTPN11","PTPRF","PUF60","RAC1","RAD21","RAD51","RAD51C","RAF1","RBBP8","RERE","RFC2","RFWD3","RIN2","RIPPLY2","RLIM","RNU12","RPGRIP1","RPGRIP1L","RPL10","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS7","RREB1","RSPO1","RTEL1","RTTN","SALL1","SAMD9","SCUBE3","SEC24C","SETBP1","SETD2","SETD5","SIAH1","SIN3A","SIX6","SKI","SKIC3","SLC25A10","SLC31A1","SLX4","SMAD4","SMARCA2","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SMC1A","SMC3","SMCHD1","SMG8","SMS","SOX11","SOX2","SOX4","SOX9","SPEN","SPRED1","SPTBN1","SRCAP","SRD5A2","SRY","SSR4","STAR","STX1A","SUCLG1","SYNGAP1","TAPT1","TBL2","TBX1","TBX22","TCF12","TCTN1","TCTN2","TCTN3","TERC","TERT","TFAP2A","THOC6","TINF2","TMEM107","TMEM216","TMEM231","TMEM237","TMEM270","TMEM63A","TMEM67","TMEM70","TMEM94","TONSL","TP63","TRIM8","TSR2","TTC8","TUBB","TXNDC15","TYMS","UBA1","UBE2A","UBE2T","UBE4B","UBR1","UFD1","USB1","USP9X","VAC14","VAMP7","VPS35L","VPS37D","WASHC5","WDR35","WNT3","WNT4","WNT5A","WNT7A","WRAP53","WT1","WWOX","XRCC2","ZEB2","ZFPM2","ZIC3","ZMIZ1","ZMPSTE24","ZMYM2","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_URETHRAL_OBSTRUCTION":{"collection":"C5:HPO","systematicName":"M34943","pmid":"","exactSource":"HP:0000796","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000796","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_URETHRAL_OBSTRUCTION","geneSymbols":["APC2","BAZ1B","BCL7B","BNC2","BUD23","CDC45","CHRM3","CLIP2","COL7A1","CTC1","DACT1","DKC1","DNAJC30","EIF4H","ELN","FERMT1","FKBP6","FLNA","FLT4","GTF2I","GTF2IRD1","GTF2IRD2","HNRNPH1","HPSE2","IGF2","ITGA6","ITGB4","LAMA3","LAMB3","LAMC2","LIMK1","LRIG2","MAP3K7","MED25","METTL27","MID1","MKKS","MLXIPL","MMP1","NCF1","NHP2","NOP10","NPM1","NSD1","PARN","PKP1","PLEC","POLA1","PTPRF","RFC2","RIN2","RTEL1","SALL1","SETD2","SIN3A","SPRED1","SRCAP","STX1A","TBL2","TBX1","TERC","TERT","TINF2","TMEM270","TP63","TYMS","USB1","VPS37D","WRAP53","ZMYM2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_OLIGOZOOSPERMIA":{"collection":"C5:HPO","systematicName":"M34944","pmid":"","exactSource":"HP:0000798","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000798","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OLIGOZOOSPERMIA","geneSymbols":["ADGRG2","ALMS1","ANTXR1","ARMC2","BLM","CATIP","CATSPER1","CATSPER2","CCDC34","CEP19","CFAP47","CFAP65","CFAP70","CFAP91","CFTR","CNBP","DAZ1","DAZ2","DAZ3","DAZ4","DDX3Y","DNAH10","DNAH17","DNHD1","DRC1","DZIP1","FBXO43","FKBP6","FSHB","IFT74","KCNU1","KLHL10","LHCGR","M1AP","MEIOB","MSH4","NR0B1","NR3C1","NR5A1","PDE11A","PDHA2","PMFBP1","POC1A","POR","PRKAR1A","RBMY1A1","RPL10L","SEPTIN12","STRC","SUN5","SYCP2","TDRD9","TEKT3","TEX15","TSPY1","USP9Y"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RENAL_STEATOSIS":{"collection":"C5:HPO","systematicName":"M34945","pmid":"","exactSource":"HP:0000799","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000799","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RENAL_STEATOSIS","geneSymbols":["ABCG5","ABCG8","APOB","APOE","EYA1","LDLR","LDLRAP1","PCK1","PCK2","PCSK9","SIX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CYSTIC_RENAL_DYSPLASIA":{"collection":"C5:HPO","systematicName":"M34946","pmid":"","exactSource":"HP:0000800","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000800","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CYSTIC_RENAL_DYSPLASIA","geneSymbols":["BBS12","BICC1","BMPER","CPT2","JAM3","MKS1","NEK8","TBC1D24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_IMPOTENCE":{"collection":"C5:HPO","systematicName":"M34947","pmid":"","exactSource":"HP:0000802","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000802","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPOTENCE","geneSymbols":["ABCD1","AIP","AKT1","ATXN8OS","BAP1","BMP2","CACNA1G","CDH23","CDKN1A","CDKN1B","CDKN2B","CDKN2C","CHD7","COQ2","DUSP6","FGF17","FGF8","FGFR1","FMR1","GNRH1","GNRHR","GPR101","GUCY1A1","HAMP","HEXB","HFE","HJV","HS6ST1","KISS1","KISS1R","LMNB1","MEN1","NF2","NHLH2","NSMF","PDGFB","PIGA","PIK3CA","PROK2","PROKR2","SACS","SLC40A1","SMARCB1","SMARCE1","SMO","SPRY4","SUFU","TAC3","TACR3","TERT","TFR2","TRAF7","TTR","WDR11"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RENAL_CORTICAL_CYSTS":{"collection":"C5:HPO","systematicName":"M34948","pmid":"","exactSource":"HP:0000803","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000803","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RENAL_CORTICAL_CYSTS","geneSymbols":["CD96","CDKN1C","CEP290","CSPP1","ETFA","ETFB","ETFDH","IGF2","INVS","KCNQ1","KCNQ1OT1","KIAA0586","MPDU1","NEK8","PEX1","PEX2","PIGQ","SKIC3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ENURESIS":{"collection":"C5:HPO","systematicName":"M34949","pmid":"","exactSource":"HP:0000805","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000805","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ENURESIS","geneSymbols":["ADNP","AGXT","AQP2","AVPR2","BMP1","BNC2","CLCNKB","DLG3","DMPK","DPH1","DPH2","ELN","FA2H","FAM20A","FOXP1","FOXP2","HPSE2","KCNJ10","KY","LRIG2","MLXIPL","NPHP3","POLRMT","PRKAR1B","RNF125","RNF168","SLC12A3","SLC25A13","SLC5A2","SMARCA2","ZMYM2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_GLANDULAR_HYPOSPADIAS":{"collection":"C5:HPO","systematicName":"M34950","pmid":"","exactSource":"HP:0000807","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000807","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GLANDULAR_HYPOSPADIAS","geneSymbols":["HOXA13","MAMLD1","MKKS","MTM1","MYMK","MYMX","SLC31A1","SRCAP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PENOSCROTAL_HYPOSPADIAS":{"collection":"C5:HPO","systematicName":"M34951","pmid":"","exactSource":"HP:0000808","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000808","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PENOSCROTAL_HYPOSPADIAS","geneSymbols":["ARCN1","CDH11","COLEC10","DHCR7","HSD3B2","IGF2","MAMLD1","MTM1","MYRF","NR5A1","SRY"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_EXTERNAL_GENITALIA":{"collection":"C5:HPO","systematicName":"M47037","pmid":"","exactSource":"HP:0000811","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000811","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_EXTERNAL_GENITALIA","geneSymbols":["ABCA4","ABL1","ACTA1","ACTB","ADA2","ADAR","ADAT3","AFF4","AGBL5","AGPAT2","AHI1","AHR","AIP","AKR1C2","AKR1C4","AKT1","ALG12","ALKBH8","ALMS1","ALOX12B","ALOXE3","ALX4","AMH","AMHR2","ANK1","ANKRD11","ANOS1","APC2","AR","ARCN1","ARHGEF18","ARID1A","ARID1B","ARID2","ARL2BP","ARL3","ARL6","ARL6IP6","ARNT2","ARVCF","ARX","ATAD3A","ATIC","ATP6AP2","ATP6V1A","ATP6V1B2","ATP6V1E1","ATR","ATRX","AXL","B3GALNT2","B3GLCT","B4GAT1","B9D1","B9D2","BAZ1B","BBIP1","BBS1","BBS10","BBS12","BBS2","BBS4","BBS5","BBS7","BBS9","BCL7B","BCOR","BDNF","BEST1","BICRA","BLTP1","BMP15","BMP4","BMPR1A","BNC1","BRAF","BRCA1","BRCA2","BRCC3","BRD4","BRIP1","BSCL2","BUB1","BUB1B","BUB3","BUD23","C2CD3","CA4","CAMK2A","CARS1","CASK","CASZ1","CATIP","CAV1","CAVIN1","CBX2","CC2D2A","CCDC141","CCDC22","CCDC28B","CCDC34","CCDC8","CCNQ","CD96","CDC42","CDC42BPB","CDC45","CDC6","CDC73","CDCA7","CDH11","CDH2","CDHR1","CDKL5","CDKN1B","CDKN1C","CDKN2A","CDON","CDT1","CENPT","CEP112","CEP120","CEP152","CEP19","CEP290","CEP41","CEP57","CERKL","CFAP418","CFTR","CHD4","CHD7","CHEK2","CHRM3","CHRNA3","CHRNG","CILK1","CKAP2L","CLIP2","CLMP","CLRN1","CNGA1","CNGB1","COG1","COG5","COL3A1","COL4A1","COLEC10","COLEC11","COMT","COX7B","CPE","CPLX1","CRB1","CREBBP","CRPPA","CRX","CSPP1","CT55","CTBP1","CTC1","CTCF","CTDP1","CTU2","CUL4B","CUL7","CUX1","CXCR4","CYB5A","CYP11A1","CYP11B1","CYP11B2","CYP17A1","CYP19A1","CYP21A2","DACT1","DAG1","DAZ1","DAZ2","DAZ3","DAZ4","DCAF17","DCC","DCHS1","DCX","DDB2","DDX3Y","DDX6","DHCR24","DHCR7","DHDDS","DHH","DHODH","DHX37","DHX38","DICER1","DIS3L2","DISP1","DKC1","DLK1","DLL1","DLL3","DMRT1","DMRT3","DMXL2","DNAH10","DNAJC19","DNAJC30","DNHD1","DPF2","DPM1","DPM2","DPP9","DPYSL5","DTYMK","DUSP6","DVL1","DVL3","DYNC2H1","DYNC2I1","DYNC2I2","DYNC2LI1","DYRK1A","EBF3","ECE1","ECEL1","EED","EFNB1","EHMT1","EIF2S3","EIF4H","ELN","EP300","EPG5","ERCC2","ERCC3","ERCC4","ERCC5","ERCC6","ERCC8","ERMARD","ESCO2","ESR2","EVC","EVC2","EWSR1","EXT2","EYS","EZH2","FAM111A","FAM161A","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FARSB","FAT4","FBN1","FBXL4","FBXO43","FDFT1","FDXR","FERMT1","FEZF1","FGD1","FGF17","FGF8","FGFR1","FGFR2","FGFRL1","FIG4","FKBP6","FKRP","FKTN","FLI1","FLNA","FLRT3","FMR1","FOCAD","FOS","FOXA2","FOXC1","FOXF1","FOXH1","FRAS1","FREM2","FSCN2","FSHB","FSHR","FUZ","FXR1","FZD2","GABRD","GAD1","GAS1","GATA1","GATA4","GATAD2B","GBA2","GH1","GHR","GLI1","GLI2","GLI3","GLYCTK","GMNN","GMPPB","GNA11","GNAO1","GNB2","GNRH1","GNRHR","GP1BB","GPC3","GPC4","GPR101","GPR161","GRB10","GRIA3","GRIN1","GRIP1","GRM7","GTF2I","GTF2IRD1","GTF2IRD2","GUCA1B","H19","H4C11","H4C9","HBA1","HBA2","HCCS","HDAC8","HEATR3","HEPACAM","HERC1","HERC2","HES7","HESX1","HGSNAT","HHAT","HID1","HIRA","HMGA2","HNF1B","HNRNPH1","HNRNPR","HOXA13","HOXD13","HS6ST1","HSD17B3","HSD3B2","HSPG2","HUWE1","HYLS1","HYMAI","IDH3A","IDH3B","IER3IP1","IFIH1","IFT140","IFT172","IFT27","IFT74","IFT80","IFT81","IFT88","IGF2","IL17RD","IMPDH1","IMPG1","IMPG2","INPP5E","INPP5K","INSR","INTU","IRF6","ISL1","JMJD1C","KANSL1","KAT5","KAT6B","KATNIP","KCNA1","KCNAB2","KCNH1","KCNJ6","KCNMA1","KCNN3","KCNQ1","KCNQ1OT1","KDM1A","KDM3B","KDM5B","KDM5C","KDM6A","KEAP1","KIAA0586","KIAA0753","KIAA1549","KIF7","KIFBP","KISS1","KISS1R","KIZ","KLF1","KLHL10","KLHL15","KLHL40","KLHL41","KLHL7","KLLN","KMT2D","KRAS","KRT5","LAMA5","LARGE1","LEP","LEPR","LETM1","LFNG","LHB","LHCGR","LHX1","LHX4","LIG4","LIMK1","LIPE","LMNA","LMNB2","LMOD3","LMX1B","LRAT","LRPPRC","LSM11","LSS","LUZP1","LZTFL1","MAB21L1","MAB21L2","MAD2L2","MADD","MAGEL2","MAK","MAMLD1","MAP2K1","MAP3K1","MAP3K7","MAPRE2","MBD5","MBTPS2","MC2R","MCM8","MCTP2","MDM2","MECP2","MED12","MED12L","MED25","MEG3","MEGF8","MEIOB","MERTK","MESP2","METTL23","METTL27","MID1","MINPP1","MKKS","MKRN3","MKS1","MLXIPL","MMP23B","MNX1","MOGS","MOV10L1","MRAP","MRPS22","MSH4","MSH5","MTM1","MTOR","MYH3","MYMK","MYMX","MYRF","NAA10","NANOS1","NCF1","NDN","NDNF","NDUFA6","NDUFA8","NDUFB11","NDUFB7","NDUFS4","NEB","NECTIN1","NEK1","NEK2","NELFA","NEUROD2","NEXMIF","NHLH2","NHP2","NIPBL","NKX2-1","NNT","NODAL","NOP10","NOTCH2","NPAP1","NPHP1","NPM1","NR0B1","NR2E3","NR2F2","NR3C1","NR5A1","NRL","NSD1","NSD2","NSMF","NSUN2","NUP107","NXN","OBSL1","OCA2","OFD1","OGT","OPHN1","ORC1","ORC4","ORC6","OTUD5","OTX2","PAFAH1B1","PAICS","PALB2","PARN","PAX6","PBX1","PCARE","PCNT","PDE11A","PDE4D","PDE6A","PDE6B","PDE6G","PDHA2","PDPN","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PHF21A","PHF6","PHF8","PHGDH","PIEZO2","PIGA","PIGG","PIGN","PIGP","PIGQ","PIK3CA","PITX2","PLAG1","PLAGL1","PMM2","PNKP","PNLDC1","PNPLA6","POC1A","POFUT1","POGLUT1","POLA1","POLE","POLR1B","POLR1C","POLR1D","POLR3A","POLR3H","POMGNT1","POMGNT2","POMK","POMT1","POMT2","POR","PORCN","POU1F1","PPARG","PPP1R12A","PPP2R3C","PQBP1","PRCD","PRDM13","PRDM16","PRKACA","PRKACB","PRKAR1A","PRKCZ","PRKDC","PROK2","PROKR2","PROM1","PROP1","PRPF3","PRPF31","PRPF4","PRPF6","PRPF8","PRPH2","PRPS1","PRRX1","PSENEN","PSMC1","PSMC3IP","PSMD12","PSPH","PTCH1","PTDSS1","PTEN","PTPN11","PTPRF","PTRH2","PUF60","PWAR1","PWRN1","RAB18","RAB23","RAB3GAP1","RAB3GAP2","RAC1","RAC3","RAD21","RAD51","RAD51C","RAF1","RBBP8","RBMY1A1","RBP3","RDH12","REEP6","RERE","RFC2","RFWD3","RFX7","RGR","RHO","RIPK4","RIPPLY2","RLBP1","RLIM","RNASEH2A","RNASEH2B","RNASEH2C","RNF113A","RNF212","RNU12","RNU4ATAC","RNU7-1","ROBO1","ROM1","ROR2","RP1","RP1L1","RP2","RP9","RPE65","RPGR","RPGRIP1","RPGRIP1L","RPL10","RPL10L","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS7","RREB1","RSPO1","RSPO2","RTEL1","RTL1","RTTN","RXYLT1","RYR1","SAG","SALL1","SAMD9","SAMHD1","SATB2","SC5D","SCAPER","SCLT1","SCN1B","SCN2A","SCUBE3","SDCCAG8","SDHB","SDHC","SDHD","SEC23B","SEC24C","SEMA3A","SEMA3E","SEMA4A","SETBP1","SETD2","SETD5","SGPL1","SHH","SHOC1","SIAH1","SIK1","SIL1","SIM1","SIN3A","SIX3","SIX6","SKI","SKIC3","SLC25A10","SLC25A22","SLC25A24","SLC29A3","SLC31A1","SLC32A1","SLC39A4","SLC7A14","SLX4","SMAD4","SMARCA2","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SMC1A","SMC3","SMCHD1","SMG8","SMO","SMS","SNORD115-1","SNORD116-1","SNRNP200","SNRPN","SOHLH1","SOX10","SOX11","SOX2","SOX3","SOX4","SOX9","SPAG17","SPATA7","SPECC1L","SPEN","SPIDR","SPRED1","SPRY4","SPTBN1","SRA1","SRCAP","SRD5A2","SRY","SSR4","STAG1","STAG3","STAR","STK11","STS","STT3A","STT3B","STX1A","STXBP1","SUCLG1","SUFU","SUZ12","SYCE1","SYCP3","SYNGAP1","TAC3","TACR3","TAF4B","TALDO1","TAPT1","TBC1D20","TBC1D24","TBCE","TBL1XR1","TBL2","TBX1","TBX15","TBX22","TBX3","TBX4","TCF12","TCF4","TCOF1","TCTN1","TCTN2","TCTN3","TDGF1","TDRD9","TERB1","TERB2","TERC","TERT","TEX11","TEX14","TEX15","TFAP2A","TGIF1","THOC2","THOC6","TINF2","TMCO1","TMEM107","TMEM216","TMEM231","TMEM237","TMEM270","TMEM63A","TMEM67","TMEM70","TMEM94","TNXB","TOE1","TOGARAM1","TONSL","TOPORS","TP53","TP63","TRAIP","TREX1","TRIM32","TRIM8","TRIP13","TRPM3","TRRAP","TSPY1","TSPYL1","TSR2","TTC8","TUB","TUBB","TULP1","TWIST2","TXNDC15","TXNRD2","TYMS","UBA1","UBE2A","UBE2T","UBE3B","UBE4B","UBR1","UBR7","UFD1","UPB1","USB1","USF3","USH2A","USP26","USP7","USP9X","USP9Y","VAC14","VAMP7","VANGL1","VPS35L","VPS37D","WASHC5","WDPCP","WDR11","WDR35","WNT3","WNT4","WNT5A","WNT7A","WRAP53","WT1","WWOX","XPA","XPC","XRCC2","XRCC4","YWHAE","ZEB2","ZFPM2","ZIC2","ZMIZ1","ZMPSTE24","ZMYM2","ZMYND15","ZNF408","ZNF513","ZNF699","ZPR1","ZSWIM7"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_INTERNAL_GENITALIA":{"collection":"C5:HPO","systematicName":"M34953","pmid":"","exactSource":"HP:0000812","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000812","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_INTERNAL_GENITALIA","geneSymbols":["AAGAB","AARS1","ADGRG2","ADH5","AGPAT2","AKT1","AKT2","ALG9","ALMS1","ANOS1","ANTXR2","APC","AR","ARHGAP31","ARID1B","ARL6","ARVCF","ATM","AURKA","AXIN1","AXIN2","B3GLCT","BARD1","BAX","BAZ1B","BBIP1","BBS1","BBS10","BBS12","BBS2","BBS4","BBS5","BBS7","BBS9","BCL7B","BCOR","BMP15","BMPR1A","BMPR1B","BNC1","BRAF","BRCA1","BRCA2","BRD4","BRIP1","BSCL2","BTK","BUB1","BUB1B","BUB3","BUD23","C14orf39","CAPN15","CARS1","CAV1","CAVIN1","CBX2","CC2D2A","CCDC141","CCDC28B","CCND1","CCNQ","CDC73","CDH1","CDKN1B","CDKN1C","CDKN2A","CEACAM3","CEACAM6","CEP19","CEP290","CEP57","CFAP418","CFTR","CHD7","CHEK2","CHRM3","CIDEC","CLCA4","CLDN2","CLEC7A","CLIP2","CLPP","COL14A1","COL1A1","COL3A1","COL4A5","COL4A6","COL5A1","COL5A2","COL7A1","COMT","COQ6","CORIN","COX7B","CPLX1","CREBBP","CTBP1","CTC1","CTLA4","CTNNB1","CXCR4","CYB5A","CYP11A1","CYP11B1","CYP17A1","CYP19A1","DACT1","DCAF17","DCC","DCTN4","DDB1","DHCR7","DHH","DHX37","DICER1","DKC1","DLC1","DLL3","DMRT1","DMRT3","DNAJC30","DUSP6","DYNC2H1","DYNC2I1","DYNC2I2","DYNC2LI1","EDNRA","EIF4H","ELN","EP300","EPCAM","EPHB2","ERAL1","ERBB2","ERCC2","ERCC3","ERCC4","ERCC6","ESCO2","ESR1","EVC","EVC2","EWSR1","F7","FAN1","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FEZF1","FGF10","FGF17","FGF20","FGF8","FGFR1","FGFR2","FGFR3","FGFRL1","FH","FIGLA","FKBP6","FLCN","FLI1","FLRT3","FLT1","FOS","FOXE1","FOXF1","FOXL2","FRAS1","FREM1","FREM2","FSHR","FZD2","GATA2","GATA3","GATA4","GCLC","GFRA1","GLI1","GLI3","GNAS","GNB2","GNRH1","GNRHR","GP1BB","GREB1L","GREM1","GRIP1","GSTM3","GTF2E2","GTF2H5","GTF2I","GTF2IRD1","GTF2IRD2","HARS2","HCCS","HDAC8","HES7","HESX1","HFE","HFM1","HGD","HIRA","HLA-DPA1","HLA-DPB1","HMOX1","HNF1A","HNF1B","HOXA13","HOXD13","HS6ST1","HSD17B4","HYLS1","IDH1","IDH2","IFT172","IFT27","IFT74","IFT80","IGF2","IGHG2","IGKC","IL10RB","IL17F","IL17RA","IL17RC","IL17RD","INSR","INTU","IPO8","IRF6","ITGA8","JAK3","JMJD1C","KCNN4","KCNQ1","KCNQ1OT1","KEAP1","KIF14","KIF7","KISS1","KISS1R","KLF6","KLLN","KRAS","LARS2","LEP","LEPR","LETM1","LFNG","LHB","LIMK1","LIPE","LMNA","LMNB2","LONP1","LRP2","LZTFL1","LZTR1","MAD1L1","MAD2L2","MAMLD1","MAP3K1","MBD4","MCC","MCM8","MDM2","MESP2","METTL27","MID1","MIF","MINPP1","MKKS","MKS1","MLH1","MLH3","MLXIPL","MMP14","MMP2","MNX1","MPLKIP","MRE11","MRPS22","MSH2","MSH3","MSH4","MSH5","MSH6","MSX1","MT-CYB","MTM1","MXI1","MYC","MYRF","NAB2","NBN","NCF1","NDNF","NDP","NDUFB11","NF2","NHLH2","NHP2","NIN","NIPBL","NOBOX","NOP10","NPHP1","NPM1","NR0B1","NR2F2","NR5A1","NRAS","NSD2","NSMF","NTHL1","NUP107","OFD1","OPCML","PALB2","PALLD","PANX1","PARN","PATL2","PAX3","PAX6","PDE11A","PDGFRL","PHF6","PHGDH","PHKA2","PHKB","PHKG2","PI4KA","PIGN","PIK3CA","PIK3R1","PLA2G2A","PLG","PLIN1","PMM2","PMS1","PMS2","POLD1","POLE","POLR1B","POLR1C","POLR1D","POLR3H","POR","PPARG","PPP1R12A","PPP2R1A","PPP2R3C","PRKACA","PRKACB","PRKAR1A","PRKN","PRLR","PROK2","PROKR2","PRTN3","PSMB8","PSMC3IP","PTCH1","PTEN","PTPN11","PTPN12","PTPN22","PTPRJ","RABL3","RAD21","RAD50","RAD51","RAD51C","RAD51D","RAD54B","RARB","RBM8A","RECQL4","RELA","RET","RFC2","RFWD3","RIPK4","RIPPLY2","RNASEL","RNF113A","RNF43","RNU12","RPS20","RPS6KA3","RREB1","RSPO2","RTEL1","RXYLT1","SALL1","SALL4","SCAPER","SCLT1","SDCCAG8","SDHB","SDHC","SDHD","SEC23B","SEC24C","SEMA3A","SEMA3E","SEMA4A","SERPINA1","SETBP1","SETD2","SF3B4","SLC11A1","SLC26A9","SLC34A2","SLC35A2","SLC37A4","SLC6A14","SLC6A17","SLC9A3","SLX4","SMAD3","SMAD4","SMARCB1","SMC1A","SMC3","SOHLH1","SOX10","SOX11","SOX3","SOX9","SPECC1L","SPIDR","SPINT2","SPRED1","SPRY4","SRC","SRCAP","SRD5A2","SRY","STAG3","STAT6","STK11","STOX1","STRA6","STX1A","TAC3","TACR3","TARS1","TBL2","TBX1","TBX3","TBX6","TCOF1","TCTN3","TERC","TERT","TGFB1","TGFBR1","TGFBR2","THOC6","TINF2","TLR2","TMEM270","TNXB","TOE1","TP53","TP63","TRAF3IP2","TRAIP","TRIM32","TRIP13","TRPV6","TSC1","TSC2","TTC8","TUBB8","TWNK","TXNDC15","TYMS","UBE2T","UBR1","UFD1","UNG","USB1","USF3","VAMP7","VHL","VPS37D","WDPCP","WDR11","WDR35","WEE2","WNT10A","WNT3","WNT4","WNT7A","WNT7B","WNT9B","WRAP53","WRN","WT1","WWOX","XRCC2","ZEB2","ZFHX3","ZFPM2","ZFTA","ZMYM2","ZPR1","ZSWIM7"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BICORNUATE_UTERUS":{"collection":"C5:HPO","systematicName":"M34954","pmid":"","exactSource":"HP:0000813","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000813","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BICORNUATE_UTERUS","geneSymbols":["ALG9","BRCA1","BRCA2","BRIP1","CCNQ","DHCR7","ERCC4","ESCO2","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FGF10","FGFR2","FGFR3","FOXF1","FRAS1","FREM2","GRIP1","HNF1B","HOXA13","ITGA8","LARS2","LRP2","MAD2L2","MID1","MNX1","PALB2","PIGN","RAD51","RAD51C","RARB","RFWD3","RIPK4","SETBP1","SF3B4","SLX4","SPECC1L","SRY","STRA6","TBX3","TNXB","UBE2T","WNT4","WT1","XRCC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPERGONADOTROPIC_HYPOGONADISM":{"collection":"C5:HPO","systematicName":"M34955","pmid":"","exactSource":"HP:0000815","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000815","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERGONADOTROPIC_HYPOGONADISM","geneSymbols":["AHSG","ALMS1","AMACR","BMP15","BMPR1B","BRCC3","CLPP","COQ2","CTDP1","CYB5A","CYP17A1","CYP19A1","DCAF17","DHH","DHX37","DMRT3","FANCA","FANCB","FANCC","FANCD2","FANCE","FOXL2","GALK1","GALT","GATA4","GNAS","ITGB6","LEP","LEPR","LHCGR","LIG3","LMNA","LSS","MAP3K1","MGME1","MRE11","MRPS7","NR0B1","NR5A1","NUP107","PMM2","POLA1","POLG","POLR1C","POLR3A","POLR3B","PRORP","RIN2","RRM2B","SAMD9","SCP2","SIL1","SLC29A3","SOX9","SQSTM1","SRY","TWNK","TYMP","VAMP7","WT1","WWOX","ZBTB20","ZFPM2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_KREBS_CYCLE_METABOLISM":{"collection":"C5:HPO","systematicName":"M34956","pmid":"","exactSource":"HP:0000816","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000816","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_KREBS_CYCLE_METABOLISM","geneSymbols":["FH","FXN","MMAA","MMAB","MMACHC","MMADHC","MT-ATP6","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND5","MT-ND6","MT-TK","MT-TL1","MT-TV","MT-TW","OGDH","PRDX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_ENDOCRINE_SYSTEM":{"collection":"C5:HPO","systematicName":"M47038","pmid":"","exactSource":"HP:0000818","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000818","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_ENDOCRINE_SYSTEM","geneSymbols":["AAAS","ABCA4","ABCB11","ABCB4","ABCC6","ABCC8","ABCD1","ACP5","ACTG2","ADA","ADA2","ADAMTSL1","ADAR","ADAT3","ADCY3","ADCY5","ADGRG1","ADH5","ADNP","ADORA2A","AEBP1","AFF4","AGBL5","AGPAT2","AHI1","AHR","AHSG","AIP","AIRE","AK2","AKT1","AKT2","ALB","ALDOA","ALG1","ALG12","ALG14","ALG2","ALG3","ALG5","ALG6","ALG8","ALG9","ALMS1","ALX3","ALX4","AMACR","AMH","AMHR2","ANAPC1","ANK1","ANOS1","ANTXR1","ANTXR2","AP2S1","APC","APC2","APOA5","APOE","APPL1","AQP2","AR","ARHGEF18","ARID1A","ARID1B","ARID2","ARL13B","ARL2BP","ARL3","ARL6","ARL6IP6","ARMC5","ARMC9","ARNT2","ARSL","ARVCF","ARX","ASH1L","ASXL3","ATAD3A","ATM","ATP11A","ATP5F1A","ATP5F1D","ATP5F1E","ATP5MK","ATP6V1B2","ATP7A","ATP7B","ATP8B1","ATPAF1","ATPAF2","ATRX","AVP","AVPR2","AXL","B3GLCT","B4GALNT1","B4GALT1","B9D1","B9D2","BANF1","BAP1","BAZ1B","BBIP1","BBS1","BBS10","BBS12","BBS2","BBS4","BBS5","BBS7","BBS9","BCAP31","BCL10","BCL7B","BCOR","BCS1L","BEST1","BICC1","BICRA","BIRC3","BLK","BLM","BMP15","BMP2","BMP4","BMP6","BMPR1A","BMPR1B","BNC1","BPTF","BRAF","BRCA1","BRCA2","BRCC3","BRD4","BRIP1","BSCL2","BSND","BTG4","BTK","BTNL2","BUB1","BUB1B","BUB3","BUD23","C14orf39","C1QBP","C1S","CA2","CA4","CACNA1C","CACNA1D","CACNA1H","CACNA1S","CAMKMT","CARS1","CASK","CASP10","CASR","CASZ1","CAT","CATIP","CAV1","CAVIN1","CBL","CBX2","CBY1","CC2D2A","CCBE1","CCDC134","CCDC141","CCDC22","CCDC28B","CCDC34","CCDC47","CCND1","CD55","CDC42","CDC42BPB","CDC73","CDH23","CDHR1","CDKL5","CDKN1A","CDKN1B","CDKN1C","CDKN2A","CDKN2B","CDKN2C","CDON","CEL","CELA2A","CENPT","CEP104","CEP112","CEP120","CEP19","CEP290","CEP41","CEP57","CERKL","CFAP418","CFTR","CHD4","CHD7","CHD8","CHEK2","CHRNG","CIDEC","CILK1","CISD2","CLCN2","CLCNKA","CLCNKB","CLDN10","CLDN16","CLDN19","CLIP2","CLN3","CLPB","CLPP","CLRN1","CNBP","CNGA1","CNGB1","CNOT1","CNTNAP2","COG2","COL25A1","COL2A1","COL4A5","COL7A1","COMT","COQ2","COQ6","CORIN","CP","CPA1","CPE","CPLANE1","CPLX1","CRB1","CREBBP","CRLS1","CRX","CSPP1","CT55","CTBP1","CTC1","CTDP1","CTLA4","CTNNB1","CTNS","CTRC","CTSK","CUL3","CUL4B","CWC27","CYB5A","CYP11A1","CYP11B1","CYP11B2","CYP17A1","CYP19A1","CYP21A2","CYP24A1","CYP27A1","CYP27B1","CYP2R1","CYP3A4","DACT1","DAXX","DBH","DCAF17","DCC","DCHS1","DCLRE1C","DDB1","DDB2","DDOST","DDX3X","DEAF1","DGCR2","DGCR6","DGCR8","DHCR7","DHDDS","DHH","DHX37","DHX38","DIAPH1","DIAPH2","DICER1","DIO1","DIS3L2","DISP1","DKC1","DLK1","DLL1","DLST","DMPK","DMRT1","DMRT3","DMXL2","DNAH1","DNAH10","DNAJB11","DNAJC19","DNAJC21","DNAJC3","DNAJC30","DNAL4","DNASE2","DNHD1","DNM1L","DNMT1","DNMT3A","DPF2","DPYSL5","DSG1","DUOX2","DUOXA2","DUSP6","DUT","DYRK1A","DYRK1B","ECE1","EDA","EDA2R","EDN3","EDNRB","EFL1","EHMT1","EIF2AK3","EIF2B1","EIF2S3","EIF4H","EIF5A","ELMO2","ELN","ENPP1","ENTPD1","EP300","EPAS1","EPCAM","EPG5","EPO","ERBB2","ERBB3","ERCC1","ERCC2","ERCC3","ERCC4","ERCC5","ERCC6","ERCC8","ERF","ESCO2","ESR1","ESR2","ESS2","EXOSC2","EXT2","EYA1","EYS","FAH","FAM111A","FAM111B","FAM161A","FAM20A","FAN1","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FARSA","FAS","FASLG","FAT4","FBN1","FBXO43","FCGR3B","FDX2","FEZF1","FGD1","FGF13","FGF17","FGF8","FGFR1","FGFRL1","FH","FIGLA","FKBP6","FLCN","FLI1","FLII","FLNB","FLRT3","FLT1","FMR1","FN1","FOCAD","FOS","FOXA2","FOXC1","FOXC2","FOXD3","FOXE1","FOXG1","FOXH1","FOXI1","FOXL2","FOXP1","FOXP3","FOXRED1","FRAS1","FREM1","FREM2","FSCN2","FSHB","FSHR","FUCA1","FUT8","FUZ","FXN","G6PC1","G6PC3","GABRA3","GABRD","GALK1","GALNT2","GALNT3","GALT","GAN","GANAB","GAS1","GATA1","GATA3","GATA4","GATA6","GATB","GATC","GBA1","GCGR","GCH1","GCK","GCM2","GCNA","GDF9","GDNF","GFM2","GH1","GHR","GHRHR","GHSR","GJA1","GJB2","GJB3","GJB4","GK","GLA","GLI2","GLI3","GLIS3","GLRX5","GLUD1","GMNN","GMPPA","GNA11","GNAO1","GNAS","GNAS-AS1","GNB1","GNB2","GNE","GNRH1","GNRHR","GOSR2","GP1BB","GPC3","GPC4","GPD2","GPR101","GPR161","GPR35","GRB10","GREM1","GRIA1","GRIN1","GRIN2B","GRM7","GTF2I","GTF2IRD1","GTF2IRD2","GUCA1B","GYG1","H4C5","H6PD","HABP2","HACE1","HADH","HADHA","HADHB","HAMP","HBB","HDAC4","HDAC8","HEPACAM","HERC2","HESX1","HFE","HFM1","HGSNAT","HID1","HIRA","HJV","HLA-B","HLA-DPA1","HLA-DPB1","HLA-DQA1","HLA-DQB1","HLA-DRB1","HMGA1","HMGA2","HNF1A","HNF1B","HNF4A","HNRNPK","HNRNPR","HPD","HPGD","HRAS","HS6ST1","HSD11B1","HSD11B2","HSD17B3","HSD17B4","HSD3B2","HSPG2","HTR1A","HYLS1","HYMAI","IARS1","IARS2","IDH1","IDH2","IDH3A","IDH3B","IER3IP1","IFIH1","IFNG","IFT140","IFT172","IFT27","IFT74","IFT88","IGF1","IGF1R","IGF2","IGF2BP2","IGFALS","IGHG2","IGKC","IGSF1","IKBKG","IL12A","IL12RB1","IL17RD","IL18BP","IL2RA","IL2RG","IL6","IL6ST","IL7R","IMPDH1","IMPDH2","IMPG1","IMPG2","INPP5E","INPP5K","INS","INSR","IPO8","IQSEC2","IRF4","IRF5","IRS1","IRS2","IRS4","IRX5","ITCH","ITGB6","ITPR3","IYD","JAG1","JAK1","JMJD1C","KANSL1","KARS1","KAT6B","KATNIP","KCNA1","KCNAB2","KCNE3","KCNJ1","KCNJ10","KCNJ11","KCNJ16","KCNJ18","KCNJ2","KCNJ5","KCNJ6","KCNQ1","KCNQ1OT1","KCNQ2","KCNT1","KCTD1","KDM6A","KDSR","KEAP1","KIAA0586","KIAA0753","KIAA1549","KIF1B","KIF21A","KISS1","KISS1R","KIZ","KL","KLF1","KLF11","KLHL10","KLHL3","KLHL7","KLLN","KMT2A","KMT2B","KMT2C","KMT2D","KRAS","LARS2","LAS1L","LBR","LEMD3","LEP","LEPR","LETM1","LGR4","LHB","LHCGR","LHX1","LHX3","LHX4","LIFR","LIG3","LIG4","LIMK1","LIPA","LIPC","LIPE","LMF1","LMNA","LMNB2","LPIN2","LRAT","LRBA","LRP4","LRP5","LRP6","LSM11","LSS","LTBP4","LUZP1","LZTFL1","LZTR1","MAB21L2","MAD1L1","MAD2L2","MADD","MAFA","MAGED2","MAGEL2","MAK","MALT1","MAMLD1","MAP2K1","MAP2K2","MAP3K1","MAP3K7","MAPK8IP1","MARS1","MARS2","MAST3","MAX","MC2R","MC4R","MCM10","MCM4","MCM8","MCM9","MCOLN1","MCTP2","MDH2","MDM2","MDM4","MECP2","MED12","MEF2A","MEG3","MEIOB","MEN1","MERTK","METTL27","MGAT2","MGME1","MIA3","MICU1","MID1","MINPP1","MKKS","MKRN3","MKS1","MLH1","MLH3","MLXIPL","MMEL1","MMP1","MMP14","MMP2","MMP23B","MOG","MOGS","MOV10L1","MPDU1","MPI","MRAP","MRAS","MRE11","MRPS22","MRPS25","MRPS7","MSH2","MSH3","MSH4","MSH5","MSH6","MSL3","MSMO1","MST1","MSTO1","MT-ATP6","MT-ATP8","MT-CO1","MT-CO2","MT-CO3","MT-CYB","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND5","MT-ND6","MT-TC","MT-TE","MT-TF","MT-TH","MT-TK","MT-TL1","MT-TL2","MT-TN","MT-TQ","MT-TS1","MT-TS2","MT-TV","MT-TW","MTHFR","MTNR1B","MTTP","MYH3","NAA10","NAB2","NAF1","NANOS1","NCF1","NDE1","NDN","NDNF","NDP","NDUFA1","NDUFA11","NDUFA6","NDUFAF1","NDUFAF2","NDUFAF3","NDUFAF4","NDUFAF5","NDUFAF8","NDUFB10","NDUFB11","NDUFB3","NDUFB9","NDUFS1","NDUFS2","NDUFS3","NDUFS4","NDUFS6","NDUFS7","NDUFS8","NDUFV1","NDUFV2","NECTIN1","NEK2","NEK9","NEUROD1","NEUROD2","NEUROG3","NEXMIF","NF1","NF2","NFIX","NFKB2","NFKBIA","NFS1","NHLH2","NHP2","NIN","NIPBL","NKX2-1","NKX2-5","NKX2-6","NLGN3","NLGN4X","NLRP1","NLRP3","NNT","NODAL","NONO","NOP10","NOTCH2","NOTCH3","NPAP1","NPHP1","NPHS1","NPM1","NR0B1","NR1H4","NR2E3","NR2F2","NR3C1","NR3C2","NR4A2","NR5A1","NRAS","NRL","NRTN","NSD1","NSD2","NSDHL","NSMCE2","NSMCE3","NSMF","NSUN2","NTN1","NUAK2","NUBPL","NUP107","OCA2","OCRL","OFD1","OPA1","ORAI1","OTX2","P4HA2","PALB2","PALLD","PAPPA2","PAPSS2","PARN","PAX4","PAX8","PCARE","PCBD1","PCNT","PCSK1","PDE11A","PDE4D","PDE6A","PDE6B","PDE6D","PDE6G","PDE8B","PDGFB","PDGFRB","PDHA2","PDPN","PDX1","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PGM1","PHEX","PHF21A","PHF6","PHGDH","PHKA2","PHKG2","PHOX2A","PI4KA","PIBF1","PIEZO1","PIGA","PIGF","PIGP","PIGQ","PIGT","PIK3C2A","PIK3CA","PIK3R1","PITX2","PKD1","PKD2","PLAA","PLAG1","PLAGL1","PLCB1","PLCD1","PLCG2","PLCH1","PLEKHM1","PLIN1","PLVAP","PLXND1","PMFBP1","PMM2","PMS1","PMS2","PNKP","PNLDC1","PNPLA2","PNPLA6","POC1A","POF1B","POLA1","POLD1","POLE","POLG","POLG2","POLR1B","POLR1C","POLR1D","POLR3A","POLR3B","POLR3GL","POLR3H","POLR3K","POMC","POMGNT1","POR","POU1F1","POU2AF1","POU3F4","PPARG","PPM1B","PPOX","PPP1R15B","PPP1R3A","PPP2R3C","PRCD","PRDM13","PRDM16","PREPL","PRIM1","PRKACA","PRKAR1A","PRKCD","PRKCZ","PRLR","PRMT7","PROK2","PROKR2","PROM1","PROP1","PRORP","PRPF3","PRPF31","PRPF4","PRPF6","PRPF8","PRPH2","PRPS1","PRSS1","PRSS2","PRTN3","PSMB8","PSMC3IP","PSMD12","PSTPIP1","PTCH1","PTCH2","PTDSS1","PTEN","PTF1A","PTH","PTH1R","PTPN1","PTPN11","PTPN22","PTRH2","PUF60","PUS1","PWAR1","PWRN1","PYGL","QRSL1","RAB18","RAB23","RAB3GAP1","RAB3GAP2","RABL3","RAC1","RAD21","RAD51","RAD51C","RAF1","RAG1","RAG2","RAI1","RASA2","RASGRP1","RBM28","RBP3","RCBTB1","RDH12","RECQL4","REEP6","RERE","RET","RETN","REV3L","RFC2","RFWD3","RFX6","RGR","RHO","RIN2","RIT1","RLBP1","RMRP","RNASEH2A","RNASEH2B","RNASEH2C","RNF113A","RNF125","RNF212","RNF216","RNPC3","RNU4ATAC","RNU7-1","ROBO1","ROM1","RORC","RP1","RP1L1","RP2","RP9","RPE65","RPGR","RPGRIP1L","RPL10","RPL10L","RPS20","RRAS","RRAS2","RREB1","RRM2B","RTEL1","RTL1","SAA1","SAG","SALL1","SAMD9","SAMHD1","SARS2","SASH1","SASH3","SBDS","SCAPER","SCARB2","SCLT1","SCN1A","SCN1B","SCN2A","SCN4A","SCNN1A","SCNN1B","SCNN1G","SCP2","SDCCAG8","SDHA","SDHAF2","SDHB","SDHC","SDHD","SEC23B","SEC24C","SECISBP2","SEMA3A","SEMA3C","SEMA3D","SEMA3E","SEMA4A","SEMA4D","SERPINA6","SETBP1","SETD2","SGPL1","SH2B1","SHH","SHOC1","SHROOM4","SIK1","SIK3","SIL1","SIM1","SIN3A","SIX1","SIX2","SIX3","SIX6","SKI","SKIC2","SKIC3","SLC12A1","SLC12A3","SLC12A5","SLC16A1","SLC16A2","SLC19A2","SLC25A11","SLC25A13","SLC25A22","SLC25A36","SLC25A4","SLC26A3","SLC26A4","SLC29A3","SLC2A2","SLC30A8","SLC32A1","SLC34A1","SLC34A3","SLC35A2","SLC37A4","SLC39A4","SLC3A1","SLC40A1","SLC4A2","SLC5A2","SLC5A5","SLC6A17","SLC7A14","SLC7A7","SLCO2A1","SLF2","SLX4","SMAD4","SMARCA4","SMARCAL1","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SMC1A","SMC3","SMC5","SMCHD1","SMO","SMPD1","SMPD4","SNAP29","SNORD115-1","SNORD116-1","SNRNP200","SNRPN","SOCS1","SOHLH1","SOS1","SOS2","SOST","SOX10","SOX11","SOX2","SOX3","SOX4","SOX6","SOX9","SP110","SPAG17","SPATA7","SPEN","SPI1","SPIB","SPIDR","SPINK1","SPOP","SPRED2","SPRTN","SPRY4","SPTBN1","SQSTM1","SRA1","SRCAP","SRD5A2","SRD5A3","SREBF1","SRGAP1","SRP54","SRPX2","SRY","STAG2","STAG3","STAR","STAT1","STAT3","STAT5B","STAT6","STEAP3","STIL","STK11","STOX1","STRADA","STS","STUB1","STX16","STX1A","SUFU","SUGCT","SUN5","SUPT16H","SVBP","SYCE1","SYCP3","TAC3","TACR3","TAF13","TAF4B","TANGO2","TBC1D20","TBC1D24","TBC1D7","TBCE","TBCK","TBL1X","TBL2","TBX1","TBX19","TBX2","TBX3","TCF12","TCF4","TCF7L2","TCOF1","TCTN1","TCTN2","TCTN3","TDGF1","TDO2","TDRD9","TERB1","TERB2","TERC","TERT","TEX11","TEX14","TEX15","TF","TFAP2A","TFE3","TFR2","TG","TGFB1","TGFBR2","TGIF1","THOC2","THRA","THRB","TIAM1","TIMMDC1","TINF2","TKT","TLR8","TMCO1","TMEM126B","TMEM127","TMEM138","TMEM216","TMEM218","TMEM231","TMEM237","TMEM270","TMEM67","TNFSF15","TNPO3","TNRC6B","TNXB","TOGARAM1","TOM1","TONSL","TOPORS","TP53","TP63","TPO","TRAF3IP1","TRAF7","TRAPPC11","TRAPPC9","TREX1","TRH","TRHR","TRIM32","TRIM8","TRIP13","TRIP4","TRMT10A","TRPV6","TSC1","TSC2","TSHB","TSHR","TTC26","TTC7A","TTC8","TTPA","TTR","TUB","TUBA1A","TUBB2B","TUBB3","TULP1","TWNK","TXNRD2","TYMP","TYMS","UBE2T","UBE4B","UBR1","UBR7","UCP2","UFD1","USB1","USF3","USH2A","USP48","USP7","USP8","USP9X","VAMP7","VANGL1","VANGL2","VAX1","VDR","VHL","VIPAS39","VPS13B","VPS33B","VPS35L","VPS37D","VPS4A","VSX1","WAS","WASHC5","WDPCP","WDR11","WDR26","WDR4","WFS1","WIPF1","WNK1","WNK4","WNT3","WNT4","WRAP53","WRN","WT1","WWOX","XPA","XPC","XRCC2","XRCC4","YARS2","YIPF5","YRDC","YY1","ZBTB20","ZFAT","ZFP57","ZFPM2","ZFYVE26","ZIC2","ZMPSTE24","ZMYND15","ZNF148","ZNF408","ZNF423","ZNF513","ZNF526","ZNF668","ZNRF3","ZSWIM6","ZSWIM7"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DIABETES_MELLITUS":{"collection":"C5:HPO","systematicName":"M47039","pmid":"","exactSource":"HP:0000819","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000819","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DIABETES_MELLITUS","geneSymbols":["ABCA4","ABCB4","ABCC8","ADA2","ADAR","AEBP1","AGBL5","AGPAT2","AHI1","AHR","AIP","AIRE","AKT2","ALMS1","AMACR","APOA5","APOE","APPL1","AR","ARHGEF18","ARL2BP","ARL3","ARL6","ARNT2","ATM","ATRX","BAZ1B","BBS1","BBS2","BCL7B","BEST1","BLK","BLM","BMP2","BMP6","BRAF","BRCA1","BRCA2","BSCL2","BUD23","CA4","CARS1","CASR","CAT","CAV1","CAVIN1","CC2D2A","CCDC28B","CDH23","CDHR1","CDKN2A","CDON","CEL","CELA2A","CEP19","CERKL","CFAP418","CFTR","CIDEC","CISD2","CLCNKB","CLIP2","CLRN1","CNBP","CNGA1","CNGB1","CNOT1","COL2A1","CORIN","CP","CPA1","CPE","CRB1","CRX","CTC1","CTLA4","CTNNB1","CTNS","CTRC","CYP19A1","DCAF17","DHDDS","DHX38","DISP1","DKC1","DLK1","DLL1","DMXL2","DNAJC21","DNAJC3","DNAJC30","DNASE2","DNM1L","DNMT1","DUT","DYRK1B","EDA","EDA2R","EFL1","EIF2AK3","EIF2S3","EIF4H","ELMO2","ELN","ENPP1","EYS","FAM161A","FBN1","FCGR3B","FGF8","FGFR1","FKBP6","FLT1","FMR1","FOS","FOXC2","FOXH1","FOXP1","FOXP3","FOXRED1","FSCN2","FUZ","FXN","GAS1","GATA3","GATA6","GCGR","GCK","GFM2","GJA1","GJB3","GJB4","GLI2","GLIS3","GLRX5","GOSR2","GPD2","GPR101","GPR35","GTF2I","GTF2IRD1","GTF2IRD2","GUCA1B","GYG1","HAMP","HBB","HERC2","HESX1","HFE","HGSNAT","HJV","HLA-DQA1","HLA-DQB1","HLA-DRB1","HMGA1","HMGA2","HNF1A","HNF1B","HNF4A","HYMAI","IARS1","IDH3A","IDH3B","IER3IP1","IFIH1","IFT140","IFT172","IFT88","IGF1R","IGF2BP2","IGHG2","IGKC","IL18BP","IL2RA","IL6","IMPDH1","IMPG1","IMPG2","INS","INSR","IRS1","IRS2","ITCH","ITPR3","KCNJ11","KCTD1","KDSR","KIAA1549","KIZ","KLF11","KLHL7","KRAS","LEMD3","LEP","LEPR","LHX1","LIG4","LIMK1","LIPC","LIPE","LMF1","LMNA","LMNB2","LRAT","LRBA","LRP6","LSM11","MAFA","MAGEL2","MAK","MAPK8IP1","MC4R","MEF2A","MEG3","MEN1","MERTK","METTL27","MIA3","MICU1","MKKS","MKRN3","MLXIPL","MMP14","MMP2","MOG","MST1","MT-ATP6","MT-CO1","MT-CO2","MT-CO3","MT-CYB","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND5","MT-ND6","MT-TC","MT-TE","MT-TF","MT-TH","MT-TK","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TV","MT-TW","MTHFR","MTNR1B","NAA10","NAF1","NCF1","NDN","NDP","NDUFA1","NDUFA11","NDUFA6","NDUFAF1","NDUFAF2","NDUFAF3","NDUFAF4","NDUFAF5","NDUFAF8","NDUFB10","NDUFB11","NDUFB3","NDUFB9","NDUFS1","NDUFS2","NDUFS3","NDUFS4","NDUFS6","NDUFS7","NDUFS8","NDUFV1","NDUFV2","NEK2","NEUROD1","NEUROG3","NHP2","NKX2-5","NODAL","NOP10","NOTCH3","NPAP1","NPM1","NR2E3","NR3C1","NRL","NSMCE2","NUAK2","NUBPL","OCA2","OFD1","OPA1","OTX2","PALB2","PALLD","PARN","PAX4","PCARE","PCBD1","PCNT","PDE4D","PDE6A","PDE6B","PDE6G","PDX1","PEX1","PEX10","PEX6","PI4KA","PIK3R1","PLAGL1","PLCD1","PLIN1","PNPLA2","PNPLA6","POC1A","POLA1","POLD1","POLG","POLG2","POLR3A","POMGNT1","PPARG","PPP1R15B","PPP1R3A","PRCD","PRKACA","PRKAR1A","PROK2","PROKR2","PROM1","PRPF3","PRPF31","PRPF4","PRPF6","PRPF8","PRPH2","PRSS1","PRSS2","PSTPIP1","PTCH1","PTF1A","PTPN1","PTPN22","PTRH2","PWAR1","PWRN1","RABL3","RAC1","RBP3","RDH12","REEP6","RETN","RFC2","RFX6","RGR","RHO","RLBP1","RNASEH2A","RNASEH2B","RNASEH2C","RNU7-1","ROM1","RP1","RP1L1","RP2","RP9","RPE65","RPGR","RRM2B","RTEL1","RTL1","SAG","SAMHD1","SARS2","SBDS","SCAPER","SEMA4A","SEMA4D","SHH","SIM1","SIN3A","SIX3","SLC12A3","SLC19A2","SLC25A4","SLC29A3","SLC2A2","SLC30A8","SLC37A4","SLC40A1","SLC7A14","SMAD4","SMPD4","SNORD115-1","SNORD116-1","SNRNP200","SNRPN","SOX2","SOX3","SPATA7","SPI1","SPINK1","SRP54","STAT1","STAT3","STOX1","STUB1","STX1A","SUFU","TBL2","TCF4","TCF7L2","TDGF1","TERC","TERT","TGIF1","THRB","TIMMDC1","TINF2","TKT","TLR8","TMEM126B","TMEM270","TOM1","TOPORS","TP53","TREX1","TRMT10A","TTC7A","TTC8","TTPA","TUB","TULP1","TWNK","TYMS","UBR1","USB1","USH2A","USP48","USP8","VANGL1","VANGL2","VPS37D","WFS1","WRAP53","WRN","XRCC4","YIPF5","ZBTB20","ZFP57","ZFYVE26","ZIC2","ZMPSTE24","ZNF408","ZNF513","ZNF668","ZNRF3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_THYROID_GLAND":{"collection":"C5:HPO","systematicName":"M34959","pmid":"","exactSource":"HP:0000820","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000820","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_THYROID_GLAND","geneSymbols":["ABCB11","ABCB4","ABCC6","ABCC8","ABCD1","ACP5","ADA","ADA2","ADAMTSL1","ADAR","ADAT3","ADCY5","AFF4","AIP","AIRE","AKT1","ALB","ALG2","ALG8","ALMS1","ALX4","ANAPC1","APC","APC2","APOE","ARID1A","ARID1B","ARID2","ARL6IP6","ARNT2","ARVCF","ASH1L","ATP11A","ATP5F1A","ATP5F1D","ATP5F1E","ATP5MK","ATP6V1B2","ATP7A","ATP8B1","ATPAF1","ATPAF2","B3GLCT","B4GALT1","BAP1","BAZ1B","BCL10","BCL7B","BCOR","BICRA","BIRC3","BMP4","BMP6","BMPR1A","BRAF","BTNL2","BUB1","BUB1B","BUB3","BUD23","C1QBP","C1S","CACNA1C","CACNA1S","CASP10","CASR","CASZ1","CCBE1","CCDC47","CD55","CDC73","CDH23","CDKN1A","CDKN1B","CDKN1C","CDKN2A","CDKN2B","CDKN2C","CDON","CEP57","CHD7","CHD8","CHEK2","CLCNKB","CLIP2","CLPB","COMT","CPE","CTLA4","CTNNB1","CTNS","CYP27A1","DACT1","DCAF17","DCLRE1C","DDB1","DDOST","DEAF1","DICER1","DIO1","DISP1","DLL1","DMXL2","DNAH1","DNAJC19","DNAJC30","DNM1L","DPF2","DUOX2","DUOXA2","DYRK1A","ECE1","EDN3","EDNRB","EIF2AK3","EIF4H","ELN","ENPP1","EPCAM","ERBB2","ERBB3","EXOSC2","EXT2","EYA1","FAN1","FANCI","FARSA","FAS","FASLG","FDX2","FGF13","FGF8","FGFR1","FKBP6","FLCN","FLII","FMR1","FOCAD","FOXA2","FOXD3","FOXE1","FOXG1","FOXH1","FOXI1","FOXP1","FOXP3","FUCA1","FUT8","GABRA3","GABRD","GAS1","GATA1","GATA4","GATA6","GCH1","GDNF","GLI2","GLI3","GLIS3","GNA11","GNAS","GNB1","GNB2","GNE","GP1BB","GPR161","GPR35","GREM1","GRIA1","GRIN2B","GRM7","GTF2I","GTF2IRD1","GTF2IRD2","GYG1","HABP2","HBB","HDAC4","HEPACAM","HESX1","HFE","HID1","HIRA","HLA-DQA1","HLA-DQB1","HLA-DRB1","HMGA2","HNF1B","HNRNPK","HPD","HRAS","HSD17B3","HSPG2","HYMAI","IDH1","IDH2","IFIH1","IFNG","IGF2","IGSF1","IL12A","IL12RB1","IL18BP","IL2RA","IL2RG","IL6ST","IL7R","IMPDH2","INSR","IPO8","IQSEC2","IRF4","IRF5","IRS4","ITCH","IYD","JAG1","JAK1","JMJD1C","KANSL1","KARS1","KAT6B","KATNIP","KCNAB2","KCNJ10","KCNJ11","KCNJ18","KCNJ2","KDM6A","KEAP1","KISS1R","KLF1","KLLN","KMT2B","KMT2D","KRAS","LEP","LEPR","LHX3","LHX4","LIFR","LIG4","LIMK1","LMNA","LRBA","LRP4","LSM11","LUZP1","MAD1L1","MADD","MAGEL2","MALT1","MARS1","MC2R","MCM8","MDM2","MDM4","MEN1","METTL27","MID1","MINPP1","MLH1","MLH3","MLXIPL","MMEL1","MMP14","MMP2","MMP23B","MOGS","MPI","MRAP","MSH2","MSH3","MSH6","MST1","MSTO1","MT-ATP6","MT-ATP8","MT-CO1","MT-CO2","MT-CO3","MT-ND1","MT-ND4","MT-ND5","MT-ND6","MT-TF","MT-TH","MT-TL1","MT-TL2","MT-TN","MT-TQ","MT-TS1","MT-TS2","MT-TW","MTTP","NCF1","NDN","NDUFB11","NEXMIF","NF2","NFKB2","NIN","NKX2-1","NKX2-5","NLRP1","NNT","NODAL","NPHS1","NR1H4","NR4A2","NRAS","NRTN","NSD1","NSDHL","OCA2","OPA1","OTX2","PAX8","PCSK1","PDE11A","PDE4D","PDGFB","PDPN","PHF21A","PI4KA","PIEZO1","PIK3C2A","PIK3CA","PLAA","PLAG1","PLAGL1","PLCG2","PLCH1","PLVAP","PMM2","PMS1","PMS2","PNPLA6","POLG","POLG2","POLR1B","POLR1C","POLR1D","POLR3A","POLR3GL","POMC","POU1F1","POU2AF1","POU3F4","PPP1R15B","PRDM16","PRIM1","PRKAR1A","PRKCD","PRKCZ","PROKR2","PROP1","PTCH1","PTEN","PTRH2","RAG1","RAG2","RAI1","RASGRP1","RBM28","RCBTB1","RERE","RET","RFC2","RMRP","RNASEH2A","RNASEH2B","RNASEH2C","RNU7-1","ROBO1","RPL10","RPS20","RREB1","RRM2B","SAA1","SALL1","SAMHD1","SASH1","SASH3","SCN4A","SDHB","SDHC","SDHD","SEC23B","SEC24C","SECISBP2","SEMA3C","SEMA3D","SEMA4A","SEMA4D","SETBP1","SETD2","SGPL1","SHH","SIM1","SIX1","SIX2","SIX3","SKI","SKIC2","SKIC3","SLC12A3","SLC16A2","SLC25A36","SLC25A4","SLC26A4","SLC37A4","SLC5A5","SLC6A17","SLF2","SMARCA4","SMARCAL1","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SMC1A","SMO","SNRPN","SOCS1","SOX11","SOX3","SOX4","SPEN","SPIB","SPOP","SRD5A3","SREBF1","SRGAP1","SRY","STAG2","STAR","STAT1","STAT3","STAT5B","STEAP3","STIL","STUB1","STX1A","SUFU","SUGCT","SUPT16H","SVBP","TANGO2","TBC1D24","TBCK","TBL1X","TBL2","TBX1","TBX2","TCF4","TCOF1","TDGF1","TERT","TF","TG","TGFBR2","TGIF1","THRA","THRB","TIAM1","TMEM270","TMEM67","TNFSF15","TNPO3","TOM1","TONSL","TP53","TPO","TRAF7","TRAPPC9","TREX1","TRH","TRHR","TRIP13","TRMT10A","TRPV6","TSC1","TSC2","TSHB","TSHR","TTC7A","TTR","TWNK","TXNRD2","UBE4B","UBR1","UBR7","UFD1","USF3","USP9X","VPS37D","WDR11","WDR4","WFS1","WRN","XRCC4","YRDC","YY1","ZBTB20","ZFAT","ZFP57","ZIC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPERTENSION":{"collection":"C5:HPO","systematicName":"M47040","pmid":"","exactSource":"HP:0000822","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000822","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERTENSION","geneSymbols":["ABCB4","ABCB6","ABCC6","ABCG5","ABCG8","ACAT1","ACP5","ACTA2","ACTN4","ACVRL1","ADA2","ADAMTSL4","AIP","ALG5","ALG9","ALMS1","ALX4","ANGPTL6","APOA1","APOB","APRT","ARHGAP31","ARL6","ARMC5","ARVCF","ATRX","B2M","BANF1","BANK1","BAZ1B","BBIP1","BBS1","BBS10","BBS12","BBS2","BBS4","BBS5","BBS7","BBS9","BCL7B","BICC1","BLK","BMPR2","BNC2","BRAF","BRCA2","BRCC3","BSCL2","BSND","BUD23","C3","C4A","C4B","CACNA1D","CACNA1H","CAV1","CBS","CC2D2A","CCDC28B","CCN2","CCND1","CCR6","CD2AP","CD46","CDH23","CDKN1A","CDKN1B","CDKN2A","CDKN2B","CDKN2C","CELA2A","CEP164","CEP19","CEP290","CEP83","CFAP418","CFB","CFH","CFHR1","CFHR3","CFI","CIDEC","CLCN2","CLCNKA","CLCNKB","CLIP2","COL3A1","COL4A3","COL4A4","COL4A5","COMT","COQ7","CORIN","CPOX","CR2","CTLA4","CTNNB1","CUL3","CYP11B1","CYP11B2","CYP17A1","CYP21A2","DCDC2","DEF6","DHCR7","DIS3L2","DLST","DNAJB11","DNAJC30","DNASE1","DNMT3A","DST","DYRK1B","DZIP1L","ECE1","EDA","EDA2R","EGFR","EIF4H","ELN","ELP1","ENG","ENPP1","EPAS1","EPOR","ERCC4","ERCC6","ERCC8","ETS1","EXOSC2","EXT2","FBN1","FCGR2B","FCGR3B","FGA","FGFR2","FH","FIG4","FKBP6","FLT1","FMO3","FMR1","FN1","FOXE3","FUZ","G6PC1","GANAB","GATA5","GBA1","GCH1","GEMIN4","GLA","GNAS","GP1BB","GPC3","GPR101","GTF2I","GTF2IRD1","GTF2IRD2","GUCY1A1","H19","H4C3","HBB","HEY2","HGD","HIRA","HLA-B","HLA-DPA1","HLA-DPB1","HLA-DRB1","HMBS","HMOX1","HNRNPK","HPSE2","HSD11B2","HTRA1","IDS","IDUA","IFIH1","IFNG","IFT140","IFT172","IFT27","IFT74","IGHG1","IL10","IL12B","IMPDH2","INF2","INVS","IQCB1","IRAK1","IRF5","ITGA8","ITGAM","JAK2","JAZF1","JMJD1C","KCNJ10","KCNJ5","KCTD1","KIAA0319L","KIF1B","KLHL3","KRT18","LAMB2","LARS2","LBX1","LDLR","LDLRAP1","LEMD3","LIMK1","LIPE","LMNA","LMX1B","LOX","LRIG2","LRP6","LRPPRC","LYZ","LZTFL1","MAFB","MAT2A","MAX","MBTPS2","MC4R","MDH2","MDM2","MECP2","MED12","MEF2A","MEN1","METTL27","MFAP5","MGP","MKKS","MKS1","MLX","MLXIPL","MMP14","MMP2","MPL","MT-CO1","MT-CO2","MT-CO3","MT-CYB","MT-ND1","MT-ND5","MT-ND6","MT-TC","MT-TE","MT-TF","MT-TK","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TV","MT-TW","MTFMT","MTRR","MUC1","MYH11","MYLK","MYMK","MYMX","NCF1","NDUFAF6","NF1","NFIX","NKX2-5","NOD2","NOS3","NOTCH1","NOTCH2","NOTCH3","NPHP1","NPHP3","NPHP4","NR3C1","NR3C2","NR4A2","NSMCE2","OFD1","OSGEP","PAM16","PAX2","PBX1","PCSK9","PDCD1","PDE11A","PDE3A","PHF21A","PIGA","PKD1","PKD2","PKHD1","PLIN1","POR","POU3F4","POU6F2","PPARG","PPOX","PRKACA","PRKAR1A","PRKG1","PRTN3","PTPN22","PXK","REST","RET","RFC2","RNU4ATAC","RNU7-1","RREB1","SCAPER","SCLT1","SCN2B","SCNN1A","SCNN1B","SCNN1G","SDCCAG8","SDHA","SDHAF2","SDHB","SDHC","SDHD","SEC24C","SERPINA6","SH2B3","SLC25A11","SLC2A10","SLC30A9","SLC35A2","SLC37A4","SMAD2","SMAD3","SMAD4","SMAD6","SMARCAL1","SPP1","SPRY2","STAT1","STAT2","STAT4","STOX1","STX1A","SUGCT","TBL2","TBX1","TERT","TET2","TGFB2","TGFB3","TGFBR1","TGFBR2","TGFBR3","THBD","THSD1","THSD4","TLR7","TMEM127","TMEM237","TMEM270","TMEM67","TMEM70","TNFAIP3","TNFRSF11A","TNFRSF11B","TNFSF4","TNIP1","TOM1","TP53","TRAF3IP1","TREX1","TRIM28","TRIM32","TRIP13","TRPC6","TSC1","TSC2","TTC8","UBE2L3","UFD1","USP48","USP8","VAC14","VANGL1","VHL","VPS37D","WDPCP","WDR19","WDR35","WNK1","WNK4","WRN","WT1","XPNPEP3","XYLT1","XYLT2","YY1AP1","ZMPSTE24","ZNRF3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DELAYED_PUBERTY":{"collection":"C5:HPO","systematicName":"M34960","pmid":"","exactSource":"HP:0000823","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000823","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DELAYED_PUBERTY","geneSymbols":["AIP","ALDOA","ALMS1","ALX4","ANOS1","AR","ATAD3A","ATM","BMP15","BNC1","BRAF","BRCC3","BRD4","BTK","CARS1","CCDC141","CDH23","CDON","CENPT","CHD7","CISD2","CLCNKB","COL7A1","CPE","CTNNB1","CTNS","CUL4B","CYB5A","CYP11A1","CYP17A1","DACT1","DCAF17","DCC","DEAF1","DHX37","DIAPH1","DMRT3","DNM1L","DUSP6","EIF2S3","EIF5A","ENTPD1","ESR1","EXT2","FAM111B","FEZF1","FGD1","FGF17","FGF8","FGFR1","FLII","FLRT3","FOXA2","FSHB","FSHR","G6PC1","GALT","GATA4","GBA1","GHR","GHSR","GLA","GLI2","GMNN","GNRH1","GNRHR","GPR161","HBB","HDAC8","HERC2","HESX1","HLA-DQA1","HLA-DQB1","HS6ST1","IGFALS","IL17RD","INSR","IQSEC2","KISS1","KISS1R","LEPR","LGR4","LHB","LHX4","LMNA","LPIN2","MAGEL2","MAP3K1","MAP3K7","MEN1","MKRN3","MMP1","MRPS22","MSH4","MSMO1","NDN","NDNF","NDP","NF1","NHLH2","NIPBL","NLRP3","NONO","NOTCH2","NPAP1","NR0B1","NR5A1","NSMF","NUP107","OCA2","OCRL","OTX2","PCSK1","PEX10","PGM1","PHF21A","PHF6","PHKA2","PHKG2","PNPLA6","POF1B","POLR3A","POLR3B","POLR3GL","POLR3H","POMC","POR","POU1F1","PPP1R15B","PRDM13","PROK2","PROKR2","PROP1","PSMC3IP","PTPN11","PTRH2","PUS1","PWAR1","PWRN1","PYGL","RAB18","RAB3GAP1","RAB3GAP2","RAD21","RAI1","RBM28","ROBO1","RPL10","SALL1","SCARB2","SEMA3A","SEMA3E","SLC12A3","SLC25A13","SLC29A3","SLC37A4","SMC1A","SMC3","SMPD1","SNORD115-1","SNORD116-1","SNRPN","SOX10","SOX11","SOX3","SOX9","SPIDR","SPRY4","SPTBN1","SRY","STAT1","STAT3","STAT5B","STUB1","TAC3","TACR3","TAF13","TBC1D20","TBX3","TCF12","TGFB1","TOM1","TRIP4","TRMT10A","USP9X","VAMP7","VPS13B","WDR11","WFS1","WT1","WWOX","YARS2","ZBTB20","ZFPM2","ZMPSTE24","ZSWIM7"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPERINSULINEMIC_HYPOGLYCEMIA":{"collection":"C5:HPO","systematicName":"M34961","pmid":"","exactSource":"HP:0000825","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000825","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERINSULINEMIC_HYPOGLYCEMIA","geneSymbols":["ABCC8","APPL1","BLK","CDKN1B","CEL","FOCAD","GCK","GLUD1","HADH","HNF1A","HNF4A","INS","INSR","KCNJ11","KLF11","MAFA","MEN1","MPI","NEUROD1","PAX4","PDX1","SLC16A1","TRMT10A","UCP2","YY1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_PARATHYROID_GLAND":{"collection":"C5:HPO","systematicName":"M34962","pmid":"","exactSource":"HP:0000828","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000828","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_PARATHYROID_GLAND","geneSymbols":["ACTG2","AIRE","AP2S1","ARMC5","ARVCF","ATP7B","CA2","CASR","CDC73","CDKN1A","CDKN1B","CDKN2B","CDKN2C","CHD7","CLCNKB","CLDN10","COL4A5","COMT","CYP27B1","CYP2R1","DGCR2","DGCR6","DGCR8","ESS2","FAM111A","FLCN","FOXI1","GALNT3","GATA3","GCM2","GNA11","GNAS","GNAS-AS1","GP1BB","HADHA","HADHB","HBB","HIRA","IDH1","IDH2","IFNG","IRX5","JMJD1C","KCNJ10","KL","LIG4","MEN1","MT-CO1","MT-CO2","MT-CO3","MT-ND1","MT-ND4","MT-ND5","MT-ND6","MT-TF","MT-TH","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TW","NF1","NKX2-1","NSUN2","OCRL","PIGT","PLEKHM1","PRMT7","PTEN","PTH","PTH1R","RET","RREB1","SEC24C","SLC12A1","SLC12A3","SLC26A4","SLC4A2","STX16","TBCE","TBX1","TBX2","TRPV6","TSC1","TSC2","UFD1","VDR","YY1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPOPARATHYROIDISM":{"collection":"C5:HPO","systematicName":"M34963","pmid":"","exactSource":"HP:0000829","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000829","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPARATHYROIDISM","geneSymbols":["AIRE","ARVCF","ATP7B","CHD7","COL4A5","COMT","DGCR2","DGCR6","DGCR8","ESS2","FAM111A","GATA3","GCM2","GP1BB","HADHA","HADHB","HBB","HIRA","IRX5","JMJD1C","LIG4","MT-CO1","MT-CO2","MT-CO3","MT-ND1","MT-ND4","MT-ND5","MT-ND6","MT-TF","MT-TH","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TW","NKX2-1","NSUN2","PIGT","PTH","PTH1R","RREB1","SEC24C","TBCE","TBX1","TBX2","UFD1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INSULIN_RESISTANT_DIABETES_MELLITUS":{"collection":"C5:HPO","systematicName":"M34964","pmid":"","exactSource":"HP:0000831","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000831","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INSULIN_RESISTANT_DIABETES_MELLITUS","geneSymbols":["ABCC8","AGPAT2","AKT2","ALMS1","APPL1","BLK","BSCL2","CEL","CIDEC","CNOT1","DCAF17","EIF2AK3","GATA6","GCK","HNF1A","HNF4A","HYMAI","INS","INSR","KCNJ11","KLF11","LEP","LEPR","LIPE","LMNA","MICU1","NEUROD1","NSMCE2","PAX4","PDX1","PIK3R1","PLAGL1","PLIN1","PPARG","PTF1A","STAT3","XRCC4","ZFP57","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PRIMARY_HYPOTHYROIDISM":{"collection":"C5:HPO","systematicName":"M46059","pmid":"","exactSource":"HP:0000832","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000832","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PRIMARY_HYPOTHYROIDISM","geneSymbols":["ALMS1","CTNS","DDOST","STAT1","TOM1","UBR1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_ADRENAL_GLANDS":{"collection":"C5:HPO","systematicName":"M34965","pmid":"","exactSource":"HP:0000834","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000834","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_ADRENAL_GLANDS","geneSymbols":["AAAS","ABCC6","ABCD1","ADA","ADH5","AIP","AIRE","AKT1","ANTXR2","APC","ARMC5","ATP6V1B2","ATRX","BAP1","BCAP31","BCOR","BMP4","BRAF","BSND","BTNL2","CACNA1D","CACNA1H","CACNA1S","CBX2","CCDC22","CCND1","CDH23","CDKN1A","CDKN1B","CDKN1C","CDKN2A","CDKN2B","CDKN2C","CDON","CHD7","CHEK2","CILK1","CLCN2","CLCNKA","CLCNKB","CTNNB1","CUL3","CYP11A1","CYP11B1","CYP11B2","CYP17A1","CYP21A2","DHX37","DLST","DMRT3","DNMT3A","DPYSL5","ENPP1","EPAS1","ESR1","FH","GATA4","GATB","GATC","GK","GLI3","GMPPA","GNAS","GPR161","HBB","HERC2","HESX1","HLA-DRB1","HSD11B2","HSD17B4","HSD3B2","HTR1A","HYLS1","IARS2","IDH1","IDH2","IGF2","INSR","KANSL1","KCNE3","KCNJ1","KCNJ10","KCNJ11","KCNJ16","KCNJ2","KCNJ5","KCNQ1","KCNQ1OT1","KIF1B","KLHL3","LHX4","LIPA","LMNA","LTBP4","MAGEL2","MAP3K1","MAX","MC2R","MCM4","MDH2","MDM2","MEN1","MKRN3","MKS1","MRAP","MRPS25","MRPS7","MTHFR","NDN","NDUFAF5","NF1","NF2","NFKB2","NFS1","NKX2-6","NNT","NPAP1","NR0B1","NR3C1","NR3C2","NR5A1","NSDHL","NUAK2","OCA2","OCRL","PCSK1","PDE11A","PDE8B","PDGFB","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PIK3CA","PLXND1","POLE","POLR1B","POLR1C","POLR1D","POMC","POR","PRKACA","PRKAR1A","PROKR2","PROP1","PTEN","PWAR1","PWRN1","QRSL1","RBM28","RET","ROBO1","SAA1","SAMD9","SCN4A","SCNN1A","SCNN1B","SCNN1G","SDHA","SDHAF2","SDHB","SDHC","SDHD","SEMA3E","SERPINA6","SGPL1","SIX3","SLC12A1","SLC12A3","SLC25A11","SLC26A3","SMARCB1","SMARCE1","SMO","SNORD115-1","SNORD116-1","SNRPN","SOX9","SRY","STAR","STEAP3","SUFU","TBC1D24","TBC1D7","TBCK","TBX19","TCOF1","TCTN3","TERT","TMEM127","TNXB","TP53","TRAF7","TRAPPC11","TXNRD2","USP48","USP8","VAMP7","VANGL2","VHL","VPS35L","WASHC5","WDR11","WNK1","WNK4","WNT3","WNT4","WT1","WWOX","YY1","ZFPM2","ZMPSTE24","ZNRF3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ADRENAL_HYPOPLASIA":{"collection":"C5:HPO","systematicName":"M34966","pmid":"","exactSource":"HP:0000835","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000835","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ADRENAL_HYPOPLASIA","geneSymbols":["ABCD1","ADH5","BCAP31","BMP4","CCDC22","CDKN1C","CDON","CILK1","CYP11A1","DPYSL5","GLI3","GPR161","HESX1","LHX4","LMNA","LTBP4","MKS1","MTHFR","NR0B1","NSDHL","NUAK2","PEX1","POLE","POMC","PROKR2","ROBO1","SAMD9","SIX3","TBC1D7","TBX19","TNXB","VANGL2","VPS35L","WASHC5","WDR11","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPERTHYROIDISM":{"collection":"C5:HPO","systematicName":"M34967","pmid":"","exactSource":"HP:0000836","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000836","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERTHYROIDISM","geneSymbols":["AKT1","ARVCF","BTNL2","CACNA1S","CDH23","CLCNKB","COMT","DICER1","FMR1","FOXP3","GABRA3","GNAS","GP1BB","HIRA","HLA-DRB1","JMJD1C","KCNJ18","KCNJ2","KEAP1","MSTO1","PIK3CA","POLG","POLG2","POLR3A","PTEN","RREB1","RRM2B","SEC24C","SLC12A3","SLC25A4","SUGCT","TBCK","TBX1","THRB","TSHR","TWNK","UFD1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INCREASED_CIRCULATING_GONADOTROPIN_LEVEL":{"collection":"C5:HPO","systematicName":"M34968","pmid":"","exactSource":"HP:0000837","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000837","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_CIRCULATING_GONADOTROPIN_LEVEL","geneSymbols":["AR","BMP15","BMPR1B","BNC1","C14orf39","CATIP","CBX2","CCDC34","CDH23","CFTR","CLPP","CNBP","CT55","CYB5A","CYP11A1","CYP17A1","DHH","DHX37","DIAPH2","DMRT3","DNAH10","DNHD1","ERCC6","ESR1","ESR2","FANCM","FBXO43","FGD1","FIGLA","FKBP6","FMR1","FOXL2","FSHB","FSHR","GATA4","GCNA","GDF9","HFM1","HSD17B4","KISS1R","KLHL10","LARS2","LHB","LHCGR","MAP3K1","MCM8","MCM9","MEIOB","MOV10L1","MRPS22","MSH4","MSH5","NANOS1","NR0B1","NR5A1","NSMCE2","NUP107","PDHA2","PNLDC1","POLA1","POLR3H","POR","PPP2R3C","PSMC3IP","RNF212","RPL10L","SHOC1","SOHLH1","SOX9","SPAG17","SPIDR","SRY","STAG3","SYCE1","SYCP3","TAF4B","TDRD9","TERB1","TERB2","TEX11","TEX14","TEX15","TP63","VAMP7","WT1","WWOX","XRCC2","ZFPM2","ZMYND15","ZSWIM7"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PITUITARY_DWARFISM":{"collection":"C5:HPO","systematicName":"M34969","pmid":"","exactSource":"HP:0000839","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000839","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PITUITARY_DWARFISM","geneSymbols":["FOXA2","GH1","GLI2","HESX1","LHX3","LHX4","OTX2","POU1F1","PROP1","SOX3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPERACTIVE_RENIN_ANGIOTENSIN_SYSTEM":{"collection":"C5:HPO","systematicName":"M34971","pmid":"","exactSource":"HP:0000841","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000841","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERACTIVE_RENIN_ANGIOTENSIN_SYSTEM","geneSymbols":["BSND","CLCNKA","CLCNKB","KCNJ1","NR3C2","SCNN1A","SLC12A1","SLC26A3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPERPARATHYROIDISM":{"collection":"C5:HPO","systematicName":"M34972","pmid":"","exactSource":"HP:0000843","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000843","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERPARATHYROIDISM","geneSymbols":["ACTG2","AP2S1","ARMC5","CA2","CASR","CDC73","CDKN1A","CDKN1B","CDKN2B","CDKN2C","CLDN10","CYP27B1","CYP2R1","FOXI1","GALNT3","GCM2","GNA11","GNAS","KCNJ10","MEN1","OCRL","PLEKHM1","RET","SLC12A1","SLC26A4","SLC4A2","TRPV6","VDR","YY1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ELEVATED_CIRCULATING_GROWTH_HORMONE_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M34973","pmid":"","exactSource":"HP:0000845","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000845","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELEVATED_CIRCULATING_GROWTH_HORMONE_CONCENTRATION","geneSymbols":["AIP","CDH23","CDKN1A","CDKN1B","CDKN2B","CDKN2C","GNAS","GPR101","HPGD","IGF1","KCNJ11","MEN1","PDE11A","PMM2","PRKAR1A","SLCO2A1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ADRENAL_INSUFFICIENCY":{"collection":"C5:HPO","systematicName":"M34974","pmid":"","exactSource":"HP:0000846","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000846","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ADRENAL_INSUFFICIENCY","geneSymbols":["AAAS","ABCD1","AIP","AIRE","AKT1","BAP1","BCOR","BRAF","CDH23","CTNNB1","CYP11A1","CYP11B1","CYP11B2","CYP17A1","DHX37","DMRT3","GATA4","GATB","GATC","GK","GLI3","GMPPA","HBB","HERC2","HSD11B2","HSD17B4","HSD3B2","IARS2","KANSL1","LHX4","LIPA","MAGEL2","MAP3K1","MC2R","MCM4","MEN1","MKRN3","MRAP","MRPS25","MRPS7","NDN","NDUFAF5","NF2","NFKB2","NFS1","NNT","NPAP1","NR0B1","NR3C1","NR3C2","NR5A1","OCA2","PCSK1","PDGFB","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PIK3CA","POMC","POR","PROP1","PWAR1","PWRN1","QRSL1","RBM28","ROBO1","SAA1","SAMD9","SCNN1A","SCNN1B","SCNN1G","SERPINA6","SGPL1","SMARCB1","SMARCE1","SMO","SNORD115-1","SNORD116-1","SNRPN","SOX9","SRY","STAR","STEAP3","SUFU","TBCK","TBX19","TCTN3","TERT","TRAF7","TRAPPC11","TXNRD2","VAMP7","WT1","WWOX","ZFPM2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_RENIN_ANGIOTENSIN_SYSTEM":{"collection":"C5:HPO","systematicName":"M34975","pmid":"","exactSource":"HP:0000847","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000847","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_RENIN_ANGIOTENSIN_SYSTEM","geneSymbols":["AVPR2","BSND","CACNA1D","CASR","CDKN1A","CDKN1B","CDKN2B","CDKN2C","CLCN2","CLCNKA","CLCNKB","CYP11A1","CYP11B1","CYP11B2","CYP17A1","HSD11B2","HSD3B2","INSR","KCNJ1","KCNJ10","KCNJ16","KCNJ5","MAGED2","MC2R","MEN1","MRAP","NNT","NR3C2","POR","SCNN1A","SCNN1B","SCNN1G","SLC12A1","SLC12A3","SLC26A3","WNK1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INCREASED_CIRCULATING_RENIN_LEVEL":{"collection":"C5:HPO","systematicName":"M34976","pmid":"","exactSource":"HP:0000848","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000848","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_CIRCULATING_RENIN_LEVEL","geneSymbols":["BSND","CASR","CLCNKA","CLCNKB","CYP11A1","CYP11B2","HSD3B2","INSR","KCNJ1","KCNJ10","KCNJ16","MAGED2","NR3C2","SCNN1A","SCNN1B","SCNN1G","SLC12A1","SLC12A3","SLC26A3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ADRENOCORTICAL_ABNORMALITY":{"collection":"C5:HPO","systematicName":"M34977","pmid":"","exactSource":"HP:0000849","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000849","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ADRENOCORTICAL_ABNORMALITY","geneSymbols":["ABCD1","CDKN1A","CDKN1B","CDKN2B","CDKN2C","GK","MEN1","NKX2-6","PDE11A","PLXND1","PRKAR1A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CONGENITAL_HYPOTHYROIDISM":{"collection":"C5:HPO","systematicName":"M34978","pmid":"","exactSource":"HP:0000851","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000851","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONGENITAL_HYPOTHYROIDISM","geneSymbols":["ADAMTSL1","ATP6V1B2","B3GLCT","DUOX2","DUOXA2","FOXE1","GATA6","GLIS3","GNB1","IYD","KDM6A","KMT2D","MC2R","MRAP","NKX2-1","NKX2-5","NNT","PAX8","PDE4D","PLAA","PRKAR1A","SLC5A5","STAR","TBC1D24","TG","THRA","TONSL","TPO","TRAPPC9","TSHR","TXNRD2","YRDC"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_GOITER":{"collection":"C5:HPO","systematicName":"M34980","pmid":"","exactSource":"HP:0000853","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000853","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GOITER","geneSymbols":["AKT1","ALMS1","CACNA1S","CDH23","CDKN1A","CDKN1B","CDKN2B","CDKN2C","DICER1","DNAH1","DUOX2","DUOXA2","EYA1","FOXE1","FOXI1","GNAS","HABP2","IDH1","IDH2","IYD","KCNJ10","KCNJ18","KEAP1","KLLN","MAD1L1","MEN1","MINPP1","MMP14","MMP2","NKX2-1","PAX8","PDE11A","PIK3CA","POLG","POLG2","PRKAR1A","PTEN","RCBTB1","RET","RRM2B","SASH1","SDHB","SDHC","SDHD","SEC23B","SIX1","SLC25A4","SLC26A4","SLC5A5","SUGCT","TG","THRB","TPO","TRHR","TSHB","TSHR","TWNK","USF3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_THYROID_ADENOMA":{"collection":"C5:HPO","systematicName":"M34981","pmid":"","exactSource":"HP:0000854","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000854","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THYROID_ADENOMA","geneSymbols":["AKT1","CASP10","CDC73","CDKN1B","FAS","FASLG","HEPACAM","MEN1","MSH3","PIK3CA","PRKCD","PTEN","RASGRP1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INSULIN_RESISTANCE":{"collection":"C5:HPO","systematicName":"M34982","pmid":"","exactSource":"HP:0000855","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000855","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INSULIN_RESISTANCE","geneSymbols":["ABCC8","ADCY3","AGPAT2","AKT2","ALMS1","APPL1","ARL6","BBS1","BLK","BLM","BSCL2","CAV1","CAVIN1","CCDC28B","CEL","CEP19","CIDEC","CLCNKB","CNOT1","CYP19A1","DBH","DCAF17","EIF2AK3","ENPP1","ERCC6","FOS","GATA6","GCK","GPD2","GRB10","HMGA1","HNF1A","HNF1B","HNF4A","HSD11B1","HYMAI","IGF1","IGF2BP2","IGFALS","IL6","INS","INSR","IRF4","IRS1","IRS2","KCNJ11","KLF11","LEMD2","LEP","LEPR","LIPC","LIPE","LMNA","LMNB2","MAPK8IP1","MFN2","MICU1","MTNR1B","NEUROD1","NSMCE2","PAX4","PDX1","PIK3R1","PLAGL1","PLIN1","PMM2","POLD1","PPARG","PPP1R3A","PTF1A","PTPN1","RETN","SLC12A3","SLC2A2","SLC30A8","SLC5A2","STAT3","TCF7L2","WFS1","WRN","XRCC4","ZFP57","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NEONATAL_INSULIN_DEPENDENT_DIABETES_MELLITUS":{"collection":"C5:HPO","systematicName":"M34983","pmid":"","exactSource":"HP:0000857","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000857","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEONATAL_INSULIN_DEPENDENT_DIABETES_MELLITUS","geneSymbols":["ABCC8","APPL1","BLK","CEL","CNOT1","EIF2AK3","GATA6","GCK","HNF1A","HNF4A","HYMAI","INS","KCNJ11","KLF11","NEUROD1","PAX4","PDX1","PLAGL1","PTF1A","STAT3","ZFP57"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_IRREGULAR_MENSTRUATION":{"collection":"C5:HPO","systematicName":"M34984","pmid":"","exactSource":"HP:0000858","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000858","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IRREGULAR_MENSTRUATION","geneSymbols":["AIP","ALMS1","ANTXR1","ARMC5","BBS9","C14orf39","CDH23","CDKN1C","CIDEC","CYB5A","CYP11B1","CYP17A1","ERAL1","ERCC8","FANCM","FGFR3","FMR1","FOXL2","GNAS","GPR101","HMGA2","HSF2BP","IGF2","LMNA","MEN1","NR3C1","PDE4D","PHKA2","PHKB","PHKG2","PLAG1","PPARG","PRKAR1A","PSMB8","SETD2","SLC37A4","SOST"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPERALDOSTERONISM":{"collection":"C5:HPO","systematicName":"M34985","pmid":"","exactSource":"HP:0000859","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000859","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERALDOSTERONISM","geneSymbols":["ARMC5","BSND","CACNA1D","CACNA1H","CDKN2A","CLCN2","CLCNKA","CLCNKB","CTNNB1","CYP11A1","CYP11B1","CYP11B2","GNAS","INSR","KCNJ1","KCNJ10","KCNJ16","KCNJ2","KCNJ5","NR3C2","OCRL","PRKAR1A","SCNN1A","SCNN1B","SCNN1G","SLC12A1","SLC12A3","SLC26A3","TERT","TP53","ZNRF3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CENTRAL_DIABETES_INSIPIDUS":{"collection":"C5:HPO","systematicName":"M34986","pmid":"","exactSource":"HP:0000863","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000863","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CENTRAL_DIABETES_INSIPIDUS","geneSymbols":["AVP","BRAF","CDON","CRLS1","CTNNB1","DISP1","DLL1","FGF8","FOXH1","GAS1","GLI2","NODAL","POU3F4","PTCH1","SHH","SIX3","STIL","TDGF1","TGIF1","TP63","WFS1","ZIC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_HYPOTHALAMUS_PITUITARY_AXIS":{"collection":"C5:HPO","systematicName":"M34987","pmid":"","exactSource":"HP:0000864","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000864","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_HYPOTHALAMUS_PITUITARY_AXIS","geneSymbols":["AAAS","ABCD1","ACP5","ADAT3","ADGRG1","ADNP","AFF4","AHI1","AIP","AKT1","ALG5","ALG9","ALMS1","ALX3","ANK1","ANOS1","APC","APOA5","AR","ARL13B","ARL3","ARMC5","ARMC9","ARNT2","ATRX","B3GLCT","B9D1","B9D2","BAP1","BICC1","BMP15","BMP4","BMPR1A","BMPR1B","BNC1","BPTF","BRAF","BRCA1","BRCA2","BRCC3","BRIP1","BTK","C14orf39","CATIP","CBX2","CBY1","CC2D2A","CCDC141","CCDC34","CDC42BPB","CDH23","CDKN1A","CDKN1B","CDKN1C","CDKN2A","CDKN2B","CDKN2C","CDON","CEP104","CEP120","CEP290","CEP41","CEP57","CFTR","CHD7","CLPP","CNBP","COG2","COQ6","CPLANE1","CSPP1","CT55","CTLA4","CTNNB1","CTSK","CYB5A","CYP11A1","CYP17A1","DBH","DCAF17","DCC","DHH","DHX37","DIAPH2","DISP1","DLL1","DMRT3","DMXL2","DNAH10","DNAJB11","DNAJC21","DNHD1","DUSP6","DYRK1A","EDA","EDA2R","EFL1","EIF2S3","EPCAM","ERCC4","ERCC6","ERF","ESCO2","ESR1","ESR2","FAN1","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FARSA","FBXO43","FEZF1","FGD1","FGF17","FGF8","FGFR1","FIGLA","FKBP6","FLNB","FLRT3","FMR1","FOXA2","FOXC1","FOXH1","FOXL2","FSHB","FSHR","GAN","GANAB","GAS1","GATA4","GATA6","GCNA","GDF9","GH1","GHRHR","GHSR","GLI2","GLI3","GMNN","GMPPA","GNAS","GNB2","GPR101","GPR161","GRB10","GRM7","HBB","HERC2","HESX1","HFM1","HID1","HLA-DPA1","HLA-DPB1","HPGD","HS6ST1","HSD17B4","HSD3B2","HYLS1","IARS2","IDH1","IDH2","IFNG","IFT140","IFT74","IGF1","IGF2","IGSF1","IKBKG","IL17RD","INPP5E","KANSL1","KATNIP","KCNJ11","KIAA0586","KIAA0753","KISS1R","KLHL10","KMT2A","KRAS","LARS2","LEP","LEPR","LHB","LHCGR","LHX3","LHX4","LZTR1","MAD2L2","MADD","MAGEL2","MAP2K2","MAP3K1","MAST3","MCM4","MCM8","MCM9","MED12","MEIOB","MEN1","MKRN3","MKS1","MLH1","MLH3","MOV10L1","MPDU1","MRPS22","MSH2","MSH4","MSH5","MSH6","MSTO1","MT-ATP8","MT-TL1","MTHFR","NANOS1","NDE1","NDN","NDNF","NF2","NFKB2","NFKBIA","NKX2-1","NODAL","NONO","NPAP1","NPHP1","NR0B1","NR3C1","NR5A1","NSMCE2","NUP107","OCA2","OFD1","OTX2","PALB2","PCSK1","PDE11A","PDE6D","PDGFB","PDHA2","PI4KA","PIBF1","PIK3CA","PITX2","PKD1","PKD2","PLCH1","PMM2","PMS1","PMS2","PNLDC1","PNPLA6","POLA1","POLE","POLR3A","POLR3GL","POLR3H","POMC","POR","POU1F1","POU3F4","PPP2R3C","PREPL","PRKAR1A","PRLR","PROK2","PROKR2","PROP1","PRTN3","PSMC3IP","PSMD12","PTCH1","PTDSS1","PTPN22","PUF60","PUS1","PWAR1","PWRN1","RAD51","RAD51C","RBM28","RFWD3","RNF113A","RNF212","RNF216","RNPC3","ROBO1","RPGRIP1L","RPL10L","RPS20","RRAS2","RRM2B","SBDS","SEMA3A","SEMA3E","SEMA4A","SHH","SHOC1","SIM1","SIN3A","SIX3","SIX6","SLC29A3","SLC7A7","SLCO2A1","SLX4","SMARCB1","SMARCE1","SMC1A","SMO","SNORD115-1","SNORD116-1","SNRPN","SOHLH1","SOX10","SOX11","SOX2","SOX3","SOX9","SPAG17","SPIDR","SPRY4","SRD5A3","SRP54","SRPX2","SRY","STAG2","STAG3","STAT5B","STEAP3","STIL","STX16","SUFU","SYCE1","SYCP3","TACR3","TAF4B","TBCE","TBCK","TBX19","TBX2","TBX3","TCTN1","TCTN2","TCTN3","TDGF1","TDRD9","TERB1","TERB2","TERT","TEX11","TEX14","TEX15","TGFBR2","TGIF1","THOC2","TMCO1","TMEM138","TMEM216","TMEM218","TMEM231","TMEM237","TMEM67","TOGARAM1","TP53","TP63","TRAF7","TRAPPC11","TRH","TRHR","TSC1","TSC2","TSHB","TTC26","UBE2T","USP48","USP8","VAMP7","VANGL2","VPS13B","VSX1","WASHC5","WDR11","WDR4","WT1","WWOX","XRCC2","YY1","ZFPM2","ZIC2","ZMYND15","ZNF148","ZNF423","ZNRF3","ZSWIM6","ZSWIM7"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DECREASED_FERTILITY_IN_FEMALES":{"collection":"C5:HPO","systematicName":"M34988","pmid":"","exactSource":"HP:0000868","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000868","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_FERTILITY_IN_FEMALES","geneSymbols":["AGPAT2","AIP","ASTL","BLM","BSCL2","BTG4","C11orf80","CCDC103","CCDC39","CCDC40","CCDC65","CCNO","CDC20","CDH23","CFAP221","CFAP298","CFAP300","CFAP74","CYB5A","CYP17A1","CYP19A1","DHX37","DMRT3","DNAAF1","DNAAF11","DNAAF2","DNAAF3","DNAAF4","DNAAF5","DNAAF6","DNAH1","DNAH11","DNAH5","DNAH9","DNAI1","DNAI2","DNAJB13","DNAL1","DRC1","FBXO43","FIGLA","FOXJ1","FOXL2","GALT","GAS2L2","GAS8","GATA4","GGPS1","HSF2BP","HYDIN","KPNA7","LRRC56","MAP3K1","MCIDAS","MEI1","MEN1","MOS","MSH4","MSH5","NEK10","NLRP2","NLRP5","NME5","NME8","NR0B1","NR5A1","ODAD1","ODAD2","ODAD3","ODAD4","OFD1","PANX1","PATL2","PGR","POF1B","PRLR","PSMC3IP","REC114","RPGR","RSPH1","RSPH3","RSPH4A","RSPH9","SOX9","SPAG1","SPEF2","SRY","STK36","TLE6","TRIP13","TTC12","TUBB8","VAMP7","WEE2","WT1","WWOX","ZFP36L2","ZFPM2","ZMYND10","ZP1","ZP2","ZP3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SECONDARY_AMENORRHEA":{"collection":"C5:HPO","systematicName":"M34989","pmid":"","exactSource":"HP:0000869","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000869","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SECONDARY_AMENORRHEA","geneSymbols":["ATRX","BMP15","BNC1","BPTF","BRAF","C14orf39","CDH23","CHD7","DIAPH2","DUSP6","EIF2B1","EIF2B2","EIF2B3","EIF2B4","ERAL1","ERCC6","FANCM","FGF17","FGF8","FGFR1","FIGLA","FOXL2","FSHR","GALT","GNRH1","GNRHR","HAMP","HS6ST1","HSF2BP","KISS1","KISS1R","LARS2","LHB","LMNA","MRPS22","MSH4","NHLH2","NOBOX","NR3C1","NR5A1","NSMF","NUP107","PAPSS2","POLG","POLR3H","PPARG","PRKAR1A","PROK2","PROKR2","PSMC3IP","PSMD12","RCBTB1","RNF216","SPIDR","SPRY4","TAC3","TACR3","TBL1X","TKT","TP53","TP63","USP48","USP8","WDR11","WRN","ZSWIM7"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INCREASED_CIRCULATING_PROLACTIN_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M34990","pmid":"","exactSource":"HP:0000870","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000870","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_CIRCULATING_PROLACTIN_CONCENTRATION","geneSymbols":["AIP","AKT1","BAP1","BRAF","CDH23","CTNNB1","GNAS","GPR101","MEN1","MSTO1","NF2","PDE11A","PDGFB","PIK3CA","PMM2","POLR3A","PRKAR1A","PRLR","SMARCB1","SMARCE1","SMO","SUFU","TERT","TRAF7","TRHR","TSHB"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PANHYPOPITUITARISM":{"collection":"C5:HPO","systematicName":"M34991","pmid":"","exactSource":"HP:0000871","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000871","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PANHYPOPITUITARISM","geneSymbols":["CDON","DISP1","DLL1","FGF8","FGFR1","FOXH1","GAS1","GLI2","GLI3","GRM7","HESX1","KATNIP","LHX3","LHX4","MADD","NODAL","PLCH1","POU1F1","PROP1","PTCH1","RNF113A","SHH","SIX3","SMC1A","SOX3","STAG2","STIL","SUFU","TDGF1","TGIF1","ZIC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HASHIMOTO_THYROIDITIS":{"collection":"C5:HPO","systematicName":"M34992","pmid":"","exactSource":"HP:0000872","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000872","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HASHIMOTO_THYROIDITIS","geneSymbols":["ADA2","C1S","CDKN1B","CLCNKB","CTLA4","DCLRE1C","FOXD3","IL18BP","ITCH","PI4KA","PLCG2","POLG","PTEN","SEC23B","SLC12A3","TBX2","TTC7A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DIABETES_INSIPIDUS":{"collection":"C5:HPO","systematicName":"M34993","pmid":"","exactSource":"HP:0000873","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000873","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DIABETES_INSIPIDUS","geneSymbols":["AKT1","ALMS1","ALX3","AQP2","ARL6","ARNT2","AVP","AVPR2","BBS1","BRAF","BTNL2","CCDC28B","CDON","CISD2","CNOT1","CRLS1","CTLA4","CTNNB1","DISP1","DLL1","FGF8","FGFR1","FOXH1","GAS1","GLA","GLI2","GPR161","HESX1","HLA-B","HLA-DPA1","HLA-DPB1","HLA-DRB1","LHX4","NODAL","OCRL","OTX2","P4HA2","PLCH1","POU3F4","PROKR2","PRPS1","PRTN3","PTCH1","PTEN","PTPN22","ROBO1","SHH","SIX3","SMC1A","SOX2","SOX3","STAG2","STIL","STRADA","TDGF1","TGIF1","TP63","TREX1","TTC26","VIPAS39","VPS33B","WDR11","WFS1","ZIC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_EPISODIC_HYPERTENSION":{"collection":"C5:HPO","systematicName":"M34994","pmid":"","exactSource":"HP:0000875","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000875","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EPISODIC_HYPERTENSION","geneSymbols":["LBX1","MAX","RET","SDHB","SDHD","TMEM127","VHL"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_OLIGOMENORRHEA":{"collection":"C5:HPO","systematicName":"M34995","pmid":"","exactSource":"HP:0000876","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000876","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OLIGOMENORRHEA","geneSymbols":["AGPAT2","AIP","AKT2","ATRX","BRAF","BSCL2","CAV1","CAVIN1","CDH23","CIDEC","CISD2","ERCC6","FANCM","FOS","FOXL2","FSHB","GALT","GNAS","H6PD","HERC2","LARS2","LHB","LIPE","MAGEL2","MKRN3","MSH5","NPAP1","NR3C1","PHKA2","PHKB","PHKG2","PLIN1","PPARG","PRLR","PWAR1","PWRN1","RNF216","SNORD115-1","SNORD116-1","STUB1","TP53","TPR","USP48","USP8"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_11_PAIRS_OF_RIBS":{"collection":"C5:HPO","systematicName":"M34997","pmid":"","exactSource":"HP:0000878","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000878","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_11_PAIRS_OF_RIBS","geneSymbols":["ALDH1A2","ATP6V1B2","ATR","B3GALT6","B3GAT3","B4GAT1","BMP2","CASZ1","CENPJ","CEP152","CHST3","CPLANE1","DNMT3A","DONSON","FLNB","GABRD","GPX4","HDAC6","HNRNPR","HSPG2","KCNAB2","KYNU","LBR","LUZP1","MMP23B","NALCN","NFASC","NUP88","PDPN","PRDM16","PRIM1","PRKCZ","RERE","RNU4ATAC","RPS19","RRAS2","SCUBE3","SKI","SNRPB","SOX2","SOX9","SPEN","SRCAP","TBC1D24","TBCK","TOR1A","UBE4B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SHORT_STERNUM":{"collection":"C5:HPO","systematicName":"M34998","pmid":"","exactSource":"HP:0000879","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000879","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_STERNUM","geneSymbols":["ARID1B","BUB1B","FRA10AC1","GPC3","GPC4","LAMA5","LRP2","NFIX","NIPBL","NOG","PCGF2","RBM10","SETBP1","TMEM231"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_THIN_RIBS":{"collection":"C5:HPO","systematicName":"M34999","pmid":"","exactSource":"HP:0000883","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000883","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THIN_RIBS","geneSymbols":["ACTA1","AIFM1","BANF1","BIN1","CCDC8","CHRNA1","CHRND","CHRNG","COL11A1","COL1A1","COL1A2","COL2A1","CUL7","DNM2","EXOC6B","FAM111A","HDAC6","KLHL40","KLHL41","LAMA5","LIFR","LMNA","LMOD3","MAMLD1","MTM1","MTMR14","MTX2","MUSK","MYF6","NEB","OBSL1","ORC1","P3H1","PDGFRB","PLOD1","POLR3A","PPP3CA","RTTN","RYR1","SCARF2","SCN4A","SEC24D","SERPINH1","SKI","SOX9","TBCE","TENT5A","TRPV6","USP18","WNT1","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PROMINENT_STERNUM":{"collection":"C5:HPO","systematicName":"M35000","pmid":"","exactSource":"HP:0000884","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000884","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROMINENT_STERNUM","geneSymbols":["AIFM1","ARSB","BMP2","DLK1","DYM","GALNS","GATA6","GLB1","LONP1","MEG3","PRKG2","RMRP","RTL1","WNT7A","ZFPM2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BROAD_RIBS":{"collection":"C5:HPO","systematicName":"M35001","pmid":"","exactSource":"HP:0000885","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000885","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BROAD_RIBS","geneSymbols":["ABCC9","ADAMTS10","AMER1","ARSB","ARSK","ATP7A","COL11A1","COL11A2","COMP","DYM","FBN1","GLB1","GNPTAB","GUSB","IL1RN","KCNJ8","NEK9","PTDSS1","PTH1R","SERPINH1","SETBP1","SMAD4","SOST","TFE3","TMEM53","WNT7A","XYLT1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DEFORMED_RIB_CAGE":{"collection":"C5:HPO","systematicName":"M41226","pmid":"","exactSource":"HP:0000886","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000886","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEFORMED_RIB_CAGE","geneSymbols":["CYP27B1","CYP2R1","DNAJC21","EFL1","SBDS","SLC34A3","SRP54","VDR"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CUPPED_RIBS":{"collection":"C5:HPO","systematicName":"M35002","pmid":"","exactSource":"HP:0000887","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000887","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CUPPED_RIBS","geneSymbols":["ADA","AIFM1","B3GALT6","BGN","CFAP410","COL10A1","COL11A1","COL11A2","COL2A1","DDR2","DLK1","DNAJC21","EFL1","GPX4","IHH","INPPL1","MATN3","MEG3","MMP13","PCYT1A","RTL1","SBDS","SLC35D1","SRP54","TRPV4","UBA1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HORIZONTAL_RIBS":{"collection":"C5:HPO","systematicName":"M35003","pmid":"","exactSource":"HP:0000888","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000888","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HORIZONTAL_RIBS","geneSymbols":["ABCD4","CCDC8","CEP120","COL2A1","CUL7","DYNC2H1","DYNC2I2","DYNC2LI1","DYNLT2B","EVC","EVC2","IFT81","INTU","LBR","NEK1","OBSL1","WDR35"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CLAVICLE_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M35004","pmid":"","exactSource":"HP:0000889","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000889","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CLAVICLE_MORPHOLOGY","geneSymbols":["ALX4","AMER1","ANTXR1","ARSK","ATP7A","B4GALT7","BANF1","BCOR","BGN","BMPR1A","CBFB","CDC42BPB","CDC45","CDC6","CDT1","CEP120","CHD4","CHRNG","COL11A1","COL2A1","CSPP1","CTSK","DCHS1","DLK1","DYNC2H1","DYNC2I1","DYNC2I2","DYNC2LI1","DYNLT2B","EFNB1","EYA1","FAT4","FBXL3","FGFR1","FGFR2","FGFR3","FIG4","FKBP10","FLNA","FLNB","GJA1","GLI3","GMNN","HHAT","HOXD13","HPGD","IDUA","IFT140","IFT172","IFT80","IFT81","INPPL1","INTU","KIAA0586","KIAA0753","KIF7","LBR","LEMD2","LMNA","LRP5","LRRK1","MBD5","MEG3","MMP14","MMP2","MSX2","MYSM1","NAA10","NEK1","NSDHL","ORC1","ORC4","ORC6","PAX1","PCNT","PIGL","PORCN","PTDSS1","PTEN","PTH1R","RBM8A","RNU12","RNU4ATAC","RSPO2","RTL1","RUNX2","SALL4","SCARF2","SETBP1","SH3PXD2B","SKI","SLC26A2","SLC35D1","SOST","SRCAP","TBCE","TBX15","TBX3","TBX5","TNFRSF11A","TNFRSF11B","TRIP11","TRPV4","TTC21B","TWIST1","VAC14","WDR19","WNT3","WNT7A","XYLT1","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LONG_CLAVICLES":{"collection":"C5:HPO","systematicName":"M35005","pmid":"","exactSource":"HP:0000890","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000890","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LONG_CLAVICLES","geneSymbols":["CHRNG","COL11A1","CSPP1","DLK1","FLNB","HPGD","KIAA0586","LBR","MEG3","PCNT","RNU4ATAC","RTL1","SETBP1","TBCE","TBX15"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CERVICAL_RIBS":{"collection":"C5:HPO","systematicName":"M35006","pmid":"","exactSource":"HP:0000891","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000891","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CERVICAL_RIBS","geneSymbols":["ACTB","AFF3","ANKRD11","GATA6","GPC3","GPC4","IFT57","PDGFRB","PUF60","RBM8A","RUNX2","SF3B2","SON"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BIFID_RIBS":{"collection":"C5:HPO","systematicName":"M35007","pmid":"","exactSource":"HP:0000892","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000892","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BIFID_RIBS","geneSymbols":["CASZ1","GABRD","HSPG2","KCNAB2","LUZP1","MMP23B","PDPN","PRDM16","PRKCZ","PTCH1","RERE","SKI","SPEN","TMCO1","UBE4B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SHORT_CLAVICLES":{"collection":"C5:HPO","systematicName":"M35008","pmid":"","exactSource":"HP:0000894","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000894","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_CLAVICLES","geneSymbols":["ALX4","ATP7A","B4GALT7","BCOR","BGN","BMPR1A","CBFB","CDC42BPB","CHD4","DCHS1","DYNC2LI1","FAT4","FBXL3","FGFR2","FIG4","FLNA","HOXD13","IDUA","LEMD2","LMNA","MSX2","NAA10","NSDHL","PORCN","PTEN","RNU12","RSPO2","RUNX2","SALL4","SCARF2","SRCAP","TBX3","TBX5","TRIP11","TWIST1","XYLT1","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LATERAL_CLAVICLE_HOOK":{"collection":"C5:HPO","systematicName":"M35009","pmid":"","exactSource":"HP:0000895","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000895","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LATERAL_CLAVICLE_HOOK","geneSymbols":["CDT1","DYNC2H1","DYNC2I1","DYNC2I2","DYNLT2B","IFT172","IFT81","INPPL1","INTU","NEK1","ORC1","RBM8A","SCARF2","SKI","SLC35D1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RACHITIC_ROSARY":{"collection":"C5:HPO","systematicName":"M35010","pmid":"","exactSource":"HP:0000897","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000897","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RACHITIC_ROSARY","geneSymbols":["ALPL","CTNS","CYP27B1","CYP2R1","PHEX","SLC34A1","SLC34A3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_THICKENED_RIBS":{"collection":"C5:HPO","systematicName":"M35011","pmid":"","exactSource":"HP:0000900","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000900","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THICKENED_RIBS","geneSymbols":["GLB1","GNS","HGSNAT","IDS","MAN2B1","NAGLU","SGSH","SOST"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RIB_FUSION":{"collection":"C5:HPO","systematicName":"M35012","pmid":"","exactSource":"HP:0000902","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000902","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RIB_FUSION","geneSymbols":["ACTB","ANKRD11","CASZ1","CHRNG","COG1","CPLX1","CTBP1","DLL3","FGFRL1","FOXF1","GABRD","GLI3","HES7","HSPG2","KCNAB2","LETM1","LFNG","LUZP1","MAP3K7","MESP2","MMP23B","MYH3","NELFA","NSD2","NXN","ODC1","PDPN","PIGG","PRDM16","PRKCZ","RECQL4","RERE","RIPPLY2","ROR2","SH2B1","SIX6","SKI","SON","SOX2","SPEN","TBX6","TMCO1","UBE4B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FLARING_OF_RIB_CAGE":{"collection":"C5:HPO","systematicName":"M35013","pmid":"","exactSource":"HP:0000904","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000904","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FLARING_OF_RIB_CAGE","geneSymbols":["B3GALT6","DYM","GALNS","GLB1","IL1RN","RMRP","TRIP11","TRPV4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ANTERIOR_RIB_CUPPING":{"collection":"C5:HPO","systematicName":"M35014","pmid":"","exactSource":"HP:0000907","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000907","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANTERIOR_RIB_CUPPING","geneSymbols":["ADA","AIFM1","CFAP410","COL10A1","COL11A1","COL2A1","DDR2","DLK1","DNAJC21","EFL1","INPPL1","MEG3","RTL1","SBDS","SLC35D1","SRP54"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SPRENGEL_ANOMALY":{"collection":"C5:HPO","systematicName":"M35015","pmid":"","exactSource":"HP:0000912","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000912","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPRENGEL_ANOMALY","geneSymbols":["ADA2","BRAF","CDH2","COL3A1","EFNB1","EMD","FHL1","FLNA","GATA1","GDF3","GDF6","HEATR3","HSPG2","LMNA","MAP3K7","MEOX1","NPR2","PAX3","PTCH1","PTPN11","RAF1","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS7","SEPTIN9","SF3B4","SYNE1","SYNE2","TBX2","TBX3","TBX5","TMCO1","TMEM43","TSR2","WBP11"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SHIELD_CHEST":{"collection":"C5:HPO","systematicName":"M35016","pmid":"","exactSource":"HP:0000914","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000914","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHIELD_CHEST","geneSymbols":["BRAF","CHST3","DYM","FUCA1","IDH1","KRAS","LZTR1","MAP2K1","POP1","PTPN11","RAB5IF","SRCAP","TRAPPC2","TRPV4","WNT4","XYLT2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PECTUS_EXCAVATUM_OF_INFERIOR_STERNUM":{"collection":"C5:HPO","systematicName":"M35017","pmid":"","exactSource":"HP:0000915","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000915","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PECTUS_EXCAVATUM_OF_INFERIOR_STERNUM","geneSymbols":["BRAF","MAP2K1","NF1","PTPN11","SOS1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BROAD_CLAVICLES":{"collection":"C5:HPO","systematicName":"M35018","pmid":"","exactSource":"HP:0000916","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000916","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BROAD_CLAVICLES","geneSymbols":["ARSK","ATP7A","MMP14","MMP2","MYSM1","PTDSS1","PTH1R","SH3PXD2B","SOST","TRIP11","WNT7A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_COSTOCHONDRAL_JUNCTION":{"collection":"C5:HPO","systematicName":"M35019","pmid":"","exactSource":"HP:0000919","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000919","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_COSTOCHONDRAL_JUNCTION","geneSymbols":["ALPL","ARSL","CTNS","CYP27B1","CYP2R1","DDR2","DLK1","DNAJC21","DYM","FGFR3","MEG3","NOG","PHEX","PRKG2","RTL1","SBDS","SLC26A1","SLC34A1","SLC34A3","SRP54","VDR"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ENLARGEMENT_OF_THE_COSTOCHONDRAL_JUNCTION":{"collection":"C5:HPO","systematicName":"M35020","pmid":"","exactSource":"HP:0000920","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000920","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ENLARGEMENT_OF_THE_COSTOCHONDRAL_JUNCTION","geneSymbols":["CYP27B1","CYP2R1","DNAJC21","DYM","NOG","PHEX","PRKG2","SBDS","SLC34A3","SRP54"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MISSING_RIBS":{"collection":"C5:HPO","systematicName":"M35021","pmid":"","exactSource":"HP:0000921","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000921","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MISSING_RIBS","geneSymbols":["ALDH1A2","ATP6V1B2","ATR","B3GALT6","B3GAT3","B4GAT1","BMP2","BMPER","CASZ1","CCDC22","CENPJ","CEP152","CHST3","CPLANE1","DNMT3A","DONSON","DPYSL5","FBN1","FLI1","FLNB","FUZ","GABRD","GPX4","HDAC6","HES7","HNRNPR","HSPG2","IFT43","KCNAB2","KYNU","LBR","LUZP1","MMP23B","MYF5","NALCN","NFASC","NUP88","PAICS","PDPN","PRDM16","PRIM1","PRKCZ","PTPN11","RERE","RNU4ATAC","ROR2","RPS19","RRAS2","RSPO2","SCUBE3","SIX6","SKI","SNRPB","SOX2","SOX9","SPEN","SRCAP","TBC1D24","TBCK","TBX6","TOR1A","UBE4B","VANGL1","VPS35L","WASHC5","WNT3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_POSTERIOR_RIB_CUPPING":{"collection":"C5:HPO","systematicName":"M35022","pmid":"","exactSource":"HP:0000922","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000922","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POSTERIOR_RIB_CUPPING","geneSymbols":["BGN","COL11A1","DDR2","INPPL1","MATN3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BEADED_RIBS":{"collection":"C5:HPO","systematicName":"M35023","pmid":"","exactSource":"HP:0000923","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000923","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BEADED_RIBS","geneSymbols":["COL1A1","COL1A2","CREB3L1","LBR","PHEX","PPIB","TAPT1","TRIP11"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_VERTEBRAL_COLUMN":{"collection":"C5:HPO","systematicName":"M47041","pmid":"","exactSource":"HP:0000925","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000925","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_VERTEBRAL_COLUMN","geneSymbols":["AARS1","ABCB7","ABCC6","ABCC9","ABCD1","ABHD16A","ABL1","ACADS","ACAN","ACP5","ACTA1","ACTA2","ACTB","ACTG1","ACTN2","ACVR1","ADA","ADA2","ADAMTS10","ADAMTS2","ADAMTSL2","ADAR","ADAT3","ADCY5","ADGRG6","ADNP","AEBP1","AFF3","AFF4","AGA","AGRN","AHDC1","AHI1","AHSG","AIFM1","AIMP1","AIMP2","AIP","AK9","AKT1","ALDH18A1","ALDH1A2","ALDH3A2","ALDOA","ALG1","ALG11","ALG12","ALG13","ALG14","ALG2","ALG6","ALG8","ALG9","ALMS1","ALPL","ALS2","ALX3","AMER1","AMMECR1","ANK1","ANKH","ANKRD11","ANKRD17","ANKRD55","ANO5","ANTXR1","ANTXR2","ANXA11","AP1G1","AP1S2","AP5Z1","APC","APC2","APTX","ARF1","ARFGEF2","ARID1A","ARID1B","ARID2","ARL13B","ARL3","ARL6","ARL6IP6","ARMC9","ARPC4","ARSB","ARSK","ARSL","ARVCF","ARX","ASAH1","ASH1L","ASXL1","ASXL2","ASXL3","ATAD1","ATAD3A","ATG7","ATL1","ATN1","ATP2B1","ATP6AP2","ATP6V0A2","ATP6V1A","ATP6V1B2","ATP6V1E1","ATP7A","ATP7B","ATR","ATRIP","ATRX","AUTS2","B3GALT6","B3GAT3","B3GLCT","B4GALNT1","B4GALT7","B9D1","B9D2","BAG3","BANF1","BAP1","BAZ1B","BBIP1","BBS1","BBS10","BBS12","BBS2","BBS4","BBS5","BBS7","BBS9","BCL11A","BCL7B","BCOR","BCR","BDNF","BGN","BICD2","BICRA","BIN1","BMP1","BMP15","BMP2","BMPER","BMPR1B","BNC1","BPNT2","BPTF","BRAF","BRCA1","BRCA2","BRD4","BRF1","BRIP1","BRPF1","BUB1B","BUD23","C1R","C1S","C2CD3","CACNA1G","CACNA1S","CADM3","CAMK2G","CAMSAP1","CAMTA1","CANT1","CAPN1","CAPN15","CAPN3","CARS1","CASK","CASZ1","CAVIN1","CBL","CBS","CBY1","CC2D2A","CCBE1","CCDC134","CCDC22","CCDC32","CCDC47","CCDC8","CCL2","CCM2","CCN6","CCND1","CD247","CD46","CD96","CDC42","CDC42BPB","CDC45","CDH11","CDH23","CDK10","CDK13","CDK19","CDK5","CDKL5","CDKN2A","CDON","CENPE","CENPJ","CENPT","CEP104","CEP120","CEP152","CEP19","CEP290","CEP41","CEP55","CFAP410","CFAP418","CFH","CFI","CFL2","CHAT","CHD3","CHD4","CHD7","CHKA","CHMP1A","CHN1","CHRM3","CHRNA1","CHRNB1","CHRND","CHRNE","CHRNG","CHST11","CHST14","CHST3","CIC","CLCF1","CLCN3","CLCN4","CLCN7","CLDN11","CLIC2","CLIP2","CLP1","CNOT2","CNP","COG1","COG4","COG5","COG7","COG8","COL10A1","COL11A1","COL11A2","COL12A1","COL13A1","COL1A1","COL1A2","COL25A1","COL27A1","COL2A1","COL3A1","COL5A1","COL5A2","COL6A1","COL6A2","COL6A3","COL9A1","COL9A2","COL9A3","COLEC10","COLEC11","COLQ","COMP","COMT","COPB1","COQ2","COQ4","COQ6","COX7B","COX8A","CPLANE1","CPLX1","CPOX","CREB3L1","CREBBP","CRKL","CRLF1","CRPPA","CRTAP","CSF1R","CSGALNACT1","CSNK2A1","CSPP1","CTBP1","CTC1","CTCF","CTDP1","CTNNB1","CTNND2","CTSA","CTSK","CUL4B","CUL7","CYP27A1","CYP7B1","DACT1","DAG1","DCC","DCHS1","DCX","DDHD1","DDR2","DDRGK1","DDX3X","DDX59","DDX6","DEAF1","DEGS1","DES","DHCR7","DHODH","DHPS","DHX30","DHX37","DICER1","DISP1","DKC1","DKK1","DLG4","DLK1","DLL1","DLL3","DLX5","DMD","DMP1","DMPK","DNA2","DNAJB4","DNAJC21","DNAJC30","DNAJC6","DNAL4","DNM1L","DNM2","DNMT3A","DNMT3B","DOK7","DONSON","DPAGT1","DPF2","DPM2","DPP6","DPP9","DPYD","DPYSL5","DSE","DSTYK","DUX4","DUX4L1","DVL1","DVL3","DYM","DYNC2H1","DYNC2I1","DYNC2I2","DYRK1A","DYSF","EBP","ECEL1","EED","EFL1","EFNB1","EGR2","EIF2AK3","EIF4H","EIF5A","ELN","ELP1","EMC1","EMD","ENPP1","EP300","ERCC1","ERCC2","ERCC3","ERCC4","ERCC5","ERCC6","ERCC8","ERF","ERGIC1","ERLIN1","ERLIN2","ERMARD","ESCO2","EXOC6B","EXOSC5","EXOSC9","EXT1","EXT2","EXTL3","EZH2","FA2H","FAM111B","FAM20C","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FAR1","FARS2","FARSA","FARSB","FAT4","FBLN5","FBN1","FBN2","FBXL4","FBXO28","FGD1","FGD4","FGF10","FGF20","FGF8","FGFR1","FGFR2","FGFR3","FGFRL1","FHL1","FIG4","FKBP10","FKBP14","FKBP6","FKRP","FKTN","FLAD1","FLCN","FLI1","FLII","FLNA","FLNB","FLNC","FLRT1","FLVCR1","FMR1","FN1","FOXA2","FOXC2","FOXE3","FOXF1","FOXG1","FOXH1","FOXP2","FOXRED1","FRAS1","FREM2","FRG1","FSHR","FTO","FUCA1","FUS","FUT8","FUZ","FXN","FZD2","GABBR2","GABRA3","GABRD","GAD1","GALNS","GAN","GARS1","GAS1","GATA1","GATA4","GBA1","GBA2","GCH1","GDAP1","GDF11","GDF3","GDF5","GDF6","GET4","GFAP","GFM2","GFPT1","GFRA1","GGPS1","GH1","GJA1","GJA5","GJA8","GJB1","GJC2","GLB1","GLE1","GLI2","GLI3","GLIS3","GLS","GMPPB","GNA11","GNAQ","GNAS","GNB2","GNE","GNPAT","GNPTAB","GNPTG","GNS","GON7","GORAB","GOSR2","GP1BB","GPC3","GPC4","GPC6","GPKOW","GPR101","GPX4","GRB10","GREB1L","GRIA3","GRIN1","GRIP1","GSC","GTF2E2","GTF2H5","GTF2I","GTF2IRD1","GTF2IRD2","GTPBP2","GUSB","GZF1","H1-4","H19","H3-3B","H4C5","H4C9","HAAO","HACD1","HACE1","HBA1","HBA2","HCCS","HDAC4","HDAC6","HDAC8","HEATR3","HECTD4","HELLPAR","HERC1","HERC2","HES7","HESX1","HEY2","HGD","HGSNAT","HHAT","HIBCH","HIC1","HINT1","HIRA","HK1","HLA-B","HMBS","HMGA2","HMGB3","HNF1B","HNRNPA1","HNRNPA2B1","HNRNPH1","HNRNPH2","HNRNPK","HNRNPR","HNRNPU","HOXA13","HOXD13","HPDL","HPGD","HRAS","HS2ST1","HSD17B4","HSPA9","HSPB8","HSPD1","HSPG2","HTRA1","HTT","HUWE1","HYAL1","HYCC1","HYLS1","IARS2","IDH1","IDH2","IDS","IDUA","IFIH1","IFITM5","IFT140","IFT172","IFT27","IFT43","IFT74","IFT80","IGBP1","IGF2","IGHMBP2","IHH","IKBKG","IL1RN","IL2RA","IL2RB","IL6ST","IMPDH2","INPP5E","INPP5K","INPPL1","INTS1","INTU","IPO8","IQSEC2","IRF6","ITCH","ITGA7","ITGA8","ITGB6","JAG1","JAG2","JARID2","JMJD1C","JPH1","KANSL1","KAT6B","KATNIP","KBTBD13","KCNA1","KCNAB2","KCNH1","KCNJ2","KCNJ5","KCNJ6","KCNJ8","KCNK9","KCNMA1","KCNN3","KCNQ1OT1","KCNQ2","KCNT1","KDELR2","KDM1A","KDM6A","KIAA0586","KIAA0753","KIF15","KIF1A","KIF21A","KIF22","KIF26A","KIF5A","KIF7","KIFBP","KLC2","KLHL41","KLHL7","KLLN","KMT2A","KMT2C","KMT2D","KMT2E","KNSTRN","KRAS","KRIT1","KY","KYNU","L1CAM","LAGE3","LAMA2","LAMA5","LAMB2","LARGE1","LARP7","LBR","LEMD3","LETM1","LFNG","LGI3","LHX3","LHX4","LIFR","LIG4","LIMK1","LIPE","LMNA","LMNB1","LMNB2","LMOD3","LMX1B","LONP1","LOX","LRP4","LRP5","LRRK1","LSM11","LSS","LTBP1","LTBP3","LTBP4","LUZP1","LYSET","LZTFL1","LZTR1","MAD2L2","MADD","MAF","MAFB","MAGEL2","MAN1B1","MAN2B1","MAN2C1","MAP1B","MAP2K1","MAP2K2","MAP3K20","MAP3K7","MAPK1","MAPK8IP3","MAPKBP1","MAPRE2","MAPT","MARS1","MARS2","MASP1","MAT2A","MATN3","MBD5","MBTPS1","MBTPS2","MCM3AP","MECP2","MED12","MED12L","MED13L","MED25","MEG3","MEGF10","MEGF8","MEIS2","MEOX1","MESD","MESP2","METTL27","MFAP5","MFN2","MGAT2","MGME1","MIA3","MICU1","MID1","MINPP1","MKKS","MKRN3","MKS1","MLXIPL","MMP13","MMP14","MMP2","MMP23B","MNX1","MOGS","MORC2","MPL","MPLKIP","MPZ","MRAS","MRPL12","MRPS22","MRPS28","MRPS34","MSH4","MSL3","MSTO1","MT-ATP8","MT-TL1","MTMR14","MTMR2","MTRFR","MTRR","MTTP","MUSK","MVK","MYBPC1","MYF5","MYH11","MYH2","MYH3","MYH7","MYL11","MYL2","MYLK","MYMK","MYMX","MYO18B","MYO1H","MYO9A","MYOD1","MYPN","NAA10","NAA20","NAB2","NACC1","NADSYN1","NAGLU","NALCN","NANS","NARS1","NBAS","NBN","NCAPG2","NCF1","NDN","NDP","NDRG1","NDUFA12","NDUFAF1","NDUFAF4","NDUFAF5","NDUFAF6","NDUFB11","NDUFS3","NEB","NECTIN1","NEDD4L","NEFL","NEK1","NEK9","NELFA","NEMF","NEPRO","NEU1","NF1","NF2","NFATC2","NFIX","NGF","NGLY1","NHP2","NIN","NIPBL","NKAP","NKX3-2","NKX6-2","NLRP1","NMNAT1","NODAL","NOG","NONO","NOP10","NOTCH2","NOTCH2NLC","NOTCH3","NPAP1","NPHP1","NPM1","NPR2","NR3C1","NR4A2","NR5A1","NRAS","NRCAM","NRXN1","NSD1","NSD2","NSDHL","NSUN2","NT5E","NTN1","NTNG1","NTRK1","NUP107","NUP133","NUP188","NUP85","NUP88","NUS1","NXN","OBSL1","OCA2","OCRL","ODC1","OFD1","OGDHL","ORAI1","ORC1","OSGEP","OTUD5","OTUD6B","OTX2","OXR1","P3H1","P4HB","P4HTM","PABPN1","PACS1","PAFAH1B1","PAICS","PALB2","PALLD","PAM16","PAPSS2","PARN","PAX2","PAX3","PAX6","PAX7","PCGF2","PCNT","PCYT1A","PDCD10","PDE11A","PDE4D","PDE6D","PDGFB","PDGFRB","PDPN","PDZD8","PET100","PEX5","PEX7","PGAP1","PGAP2","PGAP3","PGM3","PHACTR1","PHEX","PHF6","PHF8","PHGDH","PI4KA","PIBF1","PIEZO1","PIEZO2","PIGA","PIGG","PIGL","PIGN","PIGO","PIGQ","PIGS","PIGT","PIGU","PIGV","PIGW","PIGY","PIK3C2A","PIK3CA","PIK3CD","PIK3R2","PISD","PKDCC","PLAA","PLCB1","PLCB3","PLCH1","PLEC","PLEKHG5","PLEKHM1","PLK4","PLOD1","PLOD2","PLOD3","PLP1","PLXNA1","PMM2","PMP22","PNKP","PNPT1","POC1A","PODXL","POGZ","POLA1","POLD1","POLE","POLG","POLR1B","POLR1C","POLR1D","POLR3A","POLR3GL","POLR3H","POMGNT1","POMK","POMT1","POMT2","POP1","POR","PORCN","POU1F1","POU4F1","PPIB","PPM1D","PPOX","PPP1CB","PPP1R12A","PPP1R15B","PPP1R21","PPP2R1A","PPP2R3C","PPP2R5D","PQBP1","PRDM13","PRDM16","PRDM5","PRG4","PRKAR1A","PRKCSH","PRKCZ","PRKD1","PRKG1","PRKG2","PRMT7","PROP1","PRORP","PRPS1","PRR12","PRUNE1","PRX","PSAT1","PSMC3IP","PSMD12","PTCH1","PTCH2","PTDSS1","PTEN","PTH1R","PTPN11","PTPN2","PTPN22","PUF60","PUS1","PWAR1","PWRN1","PYCR1","PYCR2","PYROXD1","QRICH1","RAB18","RAB23","RAB33B","RAB3GAP1","RAB3GAP2","RAB5IF","RABL3","RAC1","RAC3","RAD21","RAD51","RAD51C","RAF1","RAI1","RAPSN","RASA1","RASA2","RB1","RBBP8","RBCK1","RBM10","RBM28","RBM8A","RDH11","RECQL4","RERE","RET","RETREG1","RFC2","RFT1","RFWD3","RFX7","RIGI","RIN2","RINT1","RIPK4","RIPPLY2","RIT1","RMRP","RNASEH1","RNASEH2A","RNASEH2B","RNASEH2C","RNF113A","RNF125","RNF13","RNU12","RNU4ATAC","RNU7-1","ROBO3","ROR2","RPGRIP1L","RPL10","RPL11","RPL13","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS6KA3","RPS7","RRAS","RRAS2","RREB1","RRM2B","RSPO2","RSPRY1","RTEL1","RTL1","RTTN","RUNX2","RUSC2","RYR1","RYR3","SACS","SALL1","SALL4","SAMD9","SAMHD1","SATB1","SATB2","SBDS","SBF1","SBF2","SC5D","SCAPER","SCARB2","SCARF2","SCLT1","SCN1A","SCN2A","SCN4A","SCN9A","SCUBE3","SCYL2","SDCCAG8","SDHB","SDHC","SDHD","SEC23A","SEC23B","SEC24C","SEC24D","SEC63","SELENON","SEMA3E","SEMA5A","SERPINF1","SERPINH1","SETBP1","SETD2","SETD5","SETX","SF3B2","SF3B4","SFRP4","SGCA","SGCG","SGMS2","SGSH","SH2B1","SH3PXD2B","SH3TC2","SHANK3","SHH","SHMT2","SHOC2","SHOX","SHROOM4","SIGMAR1","SIL1","SIM1","SIN3A","SIX3","SIX6","SKI","SLC10A7","SLC12A5","SLC12A6","SLC16A2","SLC18A3","SLC1A2","SLC22A12","SLC25A1","SLC25A21","SLC25A22","SLC25A24","SLC25A42","SLC25A46","SLC26A2","SLC29A3","SLC2A1","SLC2A10","SLC2A9","SLC30A9","SLC35A2","SLC35A3","SLC35B2","SLC35D1","SLC37A4","SLC39A13","SLC39A14","SLC52A2","SLC52A3","SLC5A7","SLC6A1","SLCO2A1","SLF2","SLITRK2","SLX4","SMAD2","SMAD3","SMAD4","SMARCA2","SMARCA4","SMARCAL1","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SMC1A","SMC3","SMC5","SMCHD1","SMG9","SMO","SMOC1","SMPD4","SMS","SNAP25","SNORD115-1","SNORD116-1","SNRPB","SNRPN","SNX14","SOCS1","SON","SORD","SOS1","SOS2","SOST","SOX11","SOX2","SOX3","SOX4","SOX5","SOX9","SP7","SPARC","SPART","SPAST","SPATA5","SPATA5L1","SPEG","SPEN","SPG11","SPG7","SPIDR","SPOP","SPRED1","SPRED2","SPRTN","SPTBN1","SPTBN4","SPTLC1","SRCAP","SRD5A3","SRP54","SRY","SSR4","STAC3","STAG1","STAG2","STAT3","STAT4","STAT6","STIL","STX16","STX1A","STXBP1","SUFU","SUGCT","SUMF1","SUPT16H","SURF1","SUZ12","SVIL","SYNE1","SYNE2","SYNJ1","SYT1","SYT2","TAF1","TALDO1","TANC2","TAPT1","TARS1","TBC1D20","TBC1D24","TBCD","TBCE","TBCK","TBL1XR1","TBL2","TBR1","TBX1","TBX15","TBX18","TBX2","TBX4","TBX5","TBX6","TBXAS1","TBXT","TCF12","TCF20","TCF4","TCIRG1","TCOF1","TCTN1","TCTN2","TCTN3","TDGF1","TECPR2","TELO2","TENT5A","TERC","TERT","TFAP2A","TFE3","TGDS","TGFB1","TGFB2","TGFB3","TGFBR1","TGFBR2","TGIF1","THPO","THSD4","TIMM50","TINF2","TK2","TLK2","TMCO1","TMEM138","TMEM147","TMEM165","TMEM216","TMEM218","TMEM231","TMEM237","TMEM270","TMEM38B","TMEM43","TMEM53","TMEM63C","TMEM67","TMEM94","TMTC3","TNFRSF11A","TNFRSF11B","TNFRSF1A","TNNI2","TNNT1","TNNT3","TNPO3","TOGARAM1","TONSL","TOR1A","TOR1AIP1","TP53","TP53RK","TP63","TPI1","TPM2","TPM3","TPRKB","TRAF7","TRAIP","TRAPPC11","TRAPPC12","TRAPPC2","TRAPPC4","TRAPPC9","TREX1","TRIM32","TRIO","TRIP11","TRIP4","TRMT10A","TRPM3","TRPS1","TRPV4","TRRAP","TSR2","TTC19","TTC21B","TTC5","TTC8","TTI2","TTN","TTPA","TTR","TUBA1A","TUBB","TUBB3","TUBB4A","TUBGCP4","TUBGCP6","TWIST1","TWIST2","TXNDC15","TYMS","UBA1","UBE2A","UBE2T","UBE3A","UBE3B","UBE4B","UBTF","UFC1","UFD1","UFSP2","UNC80","UPB1","UPF3B","UROS","USB1","USF3","USP48","USP7","USP8","USP9X","VAC14","VAMP1","VANGL1","VANGL2","VCP","VDR","VHL","VMA21","VPS13B","VPS33A","VPS35L","VPS37A","VPS37D","VPS53","WAC","WASHC5","WBP11","WDPCP","WDR11","WDR35","WDR4","WDR45B","WDR73","WDR81","WIPI2","WLS","WNK1","WNT1","WNT3","WNT3A","WNT4","WNT5A","WNT7A","WNT9B","WRAP53","WRN","WT1","XRCC2","XYLT1","XYLT2","YARS2","YIF1B","YRDC","YWHAE","YWHAG","ZBTB20","ZC4H2","ZDHHC9","ZEB2","ZIC1","ZIC2","ZIC3","ZMIZ1","ZMPSTE24","ZMYM2","ZNF341","ZNF407","ZNF423","ZNF469","ZNF699","ZSWIM7"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PLATYSPONDYLY":{"collection":"C5:HPO","systematicName":"M35024","pmid":"","exactSource":"HP:0000926","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000926","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PLATYSPONDYLY","geneSymbols":["ABCC9","ACAN","ACP5","ADA","AGA","AIFM1","ALPL","ARSK","ATP7A","B3GALT6","B3GAT3","BGN","BMP1","CANT1","CCN6","CFAP410","CHST3","COG4","COL10A1","COL11A1","COL11A2","COL1A1","COL1A2","COL2A1","COL9A1","COL9A2","COL9A3","COMP","CREB3L1","CSF1R","DDR2","DDRGK1","DHX37","DYM","EIF2AK3","EXOC6B","EXTL3","FGFR1","FGFR3","FKBP10","FLNA","FLNB","FN1","FUCA1","GALNS","GLB1","GORAB","GPX4","GUSB","HDAC6","HSPG2","IDH1","IDH2","IFITM5","IFT43","INPPL1","KCNJ8","KDELR2","KIF22","LAMA5","LBR","LFNG","LRP5","LTBP3","MAN2B1","MATN3","MBTPS2","MIA3","MMP13","MRPS28","NANS","NEK1","NEPRO","OCRL","P3H1","PAM16","PAPSS2","PCYT1A","PLCB3","PLOD1","PLOD2","PLOD3","PMM2","PPIB","PRKG2","PTH1R","PYCR1","RAB33B","RINT1","RMRP","RNU4ATAC","RPL13","RSPRY1","RUNX2","SEC24D","SERPINH1","SFRP4","SGMS2","SLC25A24","SLC26A2","SLC29A3","SLC35D1","SLC39A13","SMAD4","SMARCAL1","SPARC","TAPT1","TCIRG1","TMEM53","TNFRSF11A","TONSL","TRAPPC2","TRIP11","TRPV4","UFSP2","WNT1","XYLT1","XYLT2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_SKELETAL_MATURATION":{"collection":"C5:HPO","systematicName":"M35025","pmid":"","exactSource":"HP:0000927","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000927","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_SKELETAL_MATURATION","geneSymbols":["AARS1","ABCC9","ABCD4","ACAN","AGA","AGPAT2","AHSG","AIFM1","AIP","ALDH18A1","ALG9","ALMS1","ANAPC1","ANKRD11","ANKRD17","ANOS1","ANTXR1","APC2","ARCN1","ARID1A","ARID1B","ARID2","ASXL2","ATR","ATRIP","ATRX","B3GAT3","B4GALT7","BAZ1B","BCL7B","BMP15","BMP2","BMPR1B","BNC1","BRAF","BRD4","BRF1","BSCL2","BTK","BUD23","CANT1","CARS1","CAV1","CAVIN1","CBL","CCBE1","CCDC141","CCDC8","CD96","CDC45","CDC6","CDKN1C","CDT1","CENPE","CENPJ","CENPT","CEP152","CEP57","CHD7","CHP1","CHST3","CKAP2L","CLIP2","COL2A1","COX4I1","COX4I2","CPLX1","CREBBP","CSGALNACT1","CTBP1","CTNS","CUL7","CYB5A","CYP11A1","CYP11B1","CYP17A1","CYP19A1","DCAF17","DCC","DDB2","DDOST","DDX6","DHX37","DMRT3","DNA2","DNAJC21","DNAJC30","DONSON","DPF2","DPP6","DUSP6","DVL1","DYNC2LI1","EED","EFL1","EIF4H","ELN","ENPP1","EP300","ERCC2","ERCC3","ERCC4","ERCC5","ESR1","EVC","EVC2","EXT1","EXTL3","EYA1","EZH2","FAM111A","FARSB","FBN1","FEZF1","FGF17","FGF8","FGFR1","FGFRL1","FKBP6","FLNB","FLRT3","FMR1","FOS","FOXA2","FOXP2","FSHB","FSHR","GATA4","GBA1","GDF5","GET4","GH1","GHR","GHRHR","GHSR","GJA1","GLI1","GLI2","GLI3","GMNN","GNAS","GNRH1","GNRHR","GPC3","GPC4","GPR101","GPX4","GRB10","GTF2E2","GTF2H5","GTF2I","GTF2IRD1","GTF2IRD2","GUSB","H1-4","H19","HDAC8","HESX1","HMGA2","HRAS","HS6ST1","HSD11B1","HSD17B4","HSPG2","HUWE1","IFT57","IGF1","IGF1R","IGF2","IGFALS","IHH","IL17RD","INPPL1","INSR","ITCH","ITGB6","KARS1","KCNJ2","KCNJ8","KCNQ1","KCNQ1OT1","KIF15","KISS1","KISS1R","KMT2A","KRAS","LEP","LEPR","LETM1","LGR4","LHCGR","LHX4","LIG4","LIMK1","LONP1","LPIN2","LSS","LTBP3","LZTR1","MADD","MALT1","MAP3K1","MAP3K7","MBTPS2","MC2R","MCM9","MECP2","MEN1","METTL27","MKRN3","MLXIPL","MMP13","MPLKIP","MRAS","MRPS22","MSH4","MSMO1","MSTO1","MT-ATP8","MT-TL1","MVK","NAA10","NBAS","NCF1","NDNF","NELFA","NEU1","NFE2L2","NFIX","NGLY1","NHLH2","NIN","NIPBL","NMNAT1","NPR2","NR0B1","NR2F1","NR5A1","NRAS","NSD1","NSD2","NSMF","NSUN2","NUP107","NUP85","OBSL1","ORC1","ORC4","ORC6","OTX2","PAM16","PAX1","PAX8","PCGF2","PCNT","PCSK1","PDE4D","PDGFRB","PEX1","PEX6","PIGG","PIGT","PIK3C2A","PIK3R1","PLK4","PNPLA6","POLA1","POLR3H","POMC","POP1","POR","POU1F1","POU3F4","PPARG","PPP1CB","PPP1R15B","PPP1R21","PPP2R3C","PRKACA","PRKACB","PRKAR1A","PRKG2","PROK2","PROKR2","PROP1","PSMC3IP","PTCH1","PTDSS1","PTEN","PTH1R","PTPN11","QRICH1","RAD21","RAF1","RASA2","RBBP8","RBM28","RECQL4","RFC2","RIT1","RMRP","RNF113A","RNF13","RNF135","RNPC3","RNU12","RNU4ATAC","ROR2","RPS6KA3","RRAS","RRAS2","RRM2B","RSPRY1","SBDS","SCARB2","SECISBP2","SEMA3A","SETD2","SHANK3","SHOC2","SIN3A","SIN3B","SLC10A7","SLC25A24","SLC26A2","SLC29A3","SLC35D1","SLC7A7","SMARCA2","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SMC1A","SMC3","SMPD1","SOHLH1","SOS1","SOS2","SOX10","SOX11","SOX3","SOX4","SOX9","SPIDR","SPRED2","SPRTN","SPRY4","SRCAP","SRP54","SRY","STAT1","STAT5B","STX1A","SUZ12","TAB2","TAC3","TACR3","TAF13","TARS1","TBCE","TBCK","TBL2","TCF20","TET3","THRA","TMEM270","TMEM67","TOM1","TONSL","TP53","TRAIP","TRH","TRHR","TRPS1","TRPV4","TSHB","TSHR","UBE3C","UBR1","UFSP2","VAMP7","VPS37D","WDR11","WDR4","WNT5A","WT1","WWOX","XPA","XPC","XYLT1","ZEB2","ZFPM2","ZNF699","ZSWIM7"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CHONDROCALCINOSIS":{"collection":"C5:HPO","systematicName":"M35026","pmid":"","exactSource":"HP:0000934","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000934","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHONDROCALCINOSIS","geneSymbols":["ALPL","ANKH","AP2S1","ATP7A","ATP7B","CDC73","CLCNKB","FXYD2","GCM2","GNA11","HYAL1","KCNJ1","LMNA","MEFV","MEN1","NOTCH3","PDGFRB","SLC12A1","SLC12A3","TNFRSF11B","TNFRSF1A","WRN"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_OSTEOPENIA":{"collection":"C5:HPO","systematicName":"M35028","pmid":"","exactSource":"HP:0000938","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000938","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OSTEOPENIA","geneSymbols":["AARS1","ADAMTS2","ADAMTSL2","ADCY10","AEBP1","AFF3","AGK","AIP","ALDH18A1","ALG3","ANAPC1","ANO5","ANTXR2","ATP6V0A2","ATP7A","ATP8B1","AVP","B3GALT6","B3GAT3","B4GALT7","BAZ1B","BCL7B","BMP15","BMP2","BNC1","BRAF","BUD23","CARS1","CAVIN1","CBFB","CCND1","CDC73","CDH23","CDKN1C","CEACAM3","CEACAM6","CFTR","CHD7","CHST3","CLCA4","CLIP2","CLPB","COG1","COL1A1","COL5A1","COL5A2","COL7A1","COPB2","COX4I2","CREB3L1","CRIPT","CRTAP","CTC1","CTCF","CYP19A1","CYP27A1","CYP3A4","DCAF17","DCHS1","DCTN4","DDOST","DNAJC21","DNAJC30","DPM2","DUSP6","EDNRA","EED","EFL1","EIF4H","ELANE","ELN","ERCC2","ERCC3","ESR1","FARSB","FAT4","FBLN5","FBN1","FBN2","FGF17","FGF8","FGFR1","FGFR2","FKBP10","FKBP14","FKBP6","FLRT3","FOXA2","FSHR","FUT8","GATA1","GBA1","GCLC","GCM2","GEMIN4","GFI1","GLI2","GLIS3","GNAS","GNPAT","GNPTAB","GNRH1","GNRHR","GORAB","GPAA1","GPR35","GSTM3","GTF2E2","GTF2H5","GTF2I","GTF2IRD1","GTF2IRD2","HBB","HECW2","HERC2","HESX1","HFE","HMOX1","HNRNPH1","HNRNPK","HPGD","HRAS","HS6ST1","HSD17B4","IARS2","IER3IP1","IFIH1","IFITM5","IFT140","IGF1","IKBKG","IL17RD","IL1RN","IL6ST","IRX5","KCNJ1","KCNN4","KISS1","KISS1R","KL","KNSTRN","KRAS","LAMA5","LHX4","LIFR","LIMK1","LMNA","LRP5","LTBP4","MAFB","MAGEL2","MAN2B1","MBTPS2","MDM4","MEN1","METTL27","MGAT2","MIA3","MIF","MKRN3","MLXIPL","MMP1","MMP14","MMP2","MPLKIP","MRPS22","MSH4","MST1","MTAP","MTTP","MTX2","NAA20","NAF1","NAGA","NCF1","NDN","NF1","NFKBIA","NHERF1","NHLH2","NOTCH2","NPAP1","NPR2","NR5A1","NRAS","NSMF","NUP107","OCA2","OTX2","P3H1","P4HB","PAPPA2","PDE11A","PIGT","PIGU","PIGY","PIK3CD","PLEKHM1","PLOD1","PLOD2","PLOD3","PMM2","POC1A","POLE","POLR3A","POLR3H","POU1F1","PRKACA","PRKAR1A","PRLR","PROK2","PROKR2","PROP1","PSAP","PSMC3IP","PTH1R","PWAR1","PWRN1","PYCR1","PYGL","RECQL4","RFC2","RIGI","RNF113A","RNF125","RNU4ATAC","RPL11","RSPRY1","SATB2","SBDS","SCARB2","SEC23A","SEC24D","SEMA4D","SERPINA1","SERPINH1","SGMS2","SH3PXD2B","SIM1","SKI","SLC10A1","SLC11A1","SLC12A1","SLC17A5","SLC26A9","SLC2A2","SLC34A1","SLC35A2","SLC37A4","SLC39A13","SLC39A8","SLC6A14","SLC7A7","SLC9A3","SMARCAL1","SMARCD2","SMPD1","SNORD115-1","SNORD116-1","SNRPN","SOX3","SPIDR","SPRY4","SRP19","SRP54","STAT1","STAT3","STN1","STX1A","STX3","TAC3","TACR3","TAF1","TAPT1","TARS1","TBL2","TCF12","TCF4","TCIRG1","TERT","TGFB1","TMEM270","TMEM38B","TMEM67","TNFRSF11B","TNNC2","TOM1","TONSL","TRAF3IP1","TREM2","TRPS1","TRPV6","TTC26","UNC80","UROD","UROS","USP9X","VPS37D","WDR11","XYLT2","ZMPSTE24","ZNF668","ZNF699","ZSWIM7"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_OSTEOPOROSIS":{"collection":"C5:HPO","systematicName":"M35029","pmid":"","exactSource":"HP:0000939","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000939","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OSTEOPOROSIS","geneSymbols":["ABCC9","ADAMTS2","ADAMTSL2","ADCY10","AEBP1","AIP","ALB","ANAPC1","ANTXR2","ARMC5","ASAH1","ASXL1","ASXL2","ATP6V0A1","ATP7A","ATP7B","ATRX","B3GALT6","B3GAT3","BANF1","BAZ1B","BCL7B","BMP1","BMP15","BMP2","BMP6","BNC1","BRAF","BUD23","CALCR","CANT1","CAVIN1","CBL","CBS","CCN6","CDC73","CDH23","CEACAM3","CEACAM6","CFTR","CHD7","CHST3","CLCA4","CLIP2","COL1A1","COL1A2","COL2A1","COL7A1","CPLX1","CTBP1","CTC1","CTDP1","CYB5A","CYP11A1","CYP17A1","CYP19A1","CYP27A1","DCTN4","DHX37","DKC1","DKK1","DMRT3","DNAJC30","DPAGT1","DUSP6","EDNRA","EIF2AK3","EIF4H","ELN","ERCC6","ESR1","ESR2","FAT4","FGF17","FGF8","FGFR1","FKBP10","FKBP6","FLRT3","FOXA2","FSHR","G6PC1","GALNS","GALT","GATA1","GATA4","GCLC","GCM2","GK","GLB1","GLI2","GNAS","GNRH1","GNRHR","GORAB","GPAA1","GPR35","GSTM3","GTF2I","GTF2IRD1","GTF2IRD2","HAMP","HBB","HERC2","HESX1","HFE","HJV","HLA-DQA1","HLA-DQB1","HMOX1","HPGD","HS6ST1","HSD17B4","HSD3B7","HSPG2","HTRA1","IFIH1","IFT122","IFT43","IFT52","IGF1","IL12A","IL12RB1","IL17RD","IL6ST","IRF5","KCNJ8","KCNN4","KDELR2","KISS1","KISS1R","KIT","LAMA3","LAMB3","LAMC2","LARS2","LETM1","LHX4","LIFR","LIMK1","LMNA","LMX1B","LRP5","LRP6","MAGEL2","MALT1","MAP3K1","MED12","MEN1","METTL27","MIF","MKRN3","MLXIPL","MMEL1","MMP1","MMP14","MMP2","MRPS22","MSH4","MST1","MTRR","NCF1","NDN","NDUFAF1","NELFA","NF1","NFIX","NGLY1","NHERF1","NHLH2","NHP2","NOP10","NOTCH2","NPAP1","NPM1","NR0B1","NR3C1","NR5A1","NSD2","NSMF","NUP107","OCA2","OTX2","PARN","PCCA","PCCB","PDE11A","PDGFRB","PDLIM4","PEX12","PHKA2","PHKB","PHKG2","PIGG","PIGT","PLOD1","PLOD2","PMM2","POF1B","POLD1","POLG","POLG2","POLR3H","POU1F1","POU2AF1","PRDM5","PRG4","PRKACA","PRKAR1A","PRLR","PROK2","PROKR2","PROP1","PSMC3IP","PWAR1","PWRN1","PYCR1","PYGL","RAB3GAP1","RECQL4","RFC2","RIN2","RNU4ATAC","RNU7-1","RPL10","RPL11","RRM2B","RTEL1","RUNX1","RUNX2","SATB2","SC5D","SCN4A","SEMA4D","SERPINA1","SGMS2","SH3PXD2B","SIM1","SLC11A1","SLC25A19","SLC25A4","SLC26A9","SLC34A1","SLC37A4","SLC6A14","SLC7A7","SLC9A3","SLCO2A1","SMAD3","SMPD1","SMS","SNORD115-1","SNORD116-1","SNRPN","SOX3","SOX9","SP7","SPARC","SPIB","SPIDR","SPRTN","SPRY4","SRC","SRSF2","SRY","STAT1","STX1A","TAC3","TACR3","TBCK","TBL2","TCF12","TCF4","TENT5A","TERC","TERT","TET2","TGFB1","TGFBR2","TINF2","TMEM165","TMEM270","TMEM67","TNFRSF11A","TNFRSF11B","TNFSF15","TNPO3","TOM1","TP53","TRAPPC2","TRIP11","TRMT10A","TWNK","TYMS","UROD","UROS","USB1","USP48","USP8","VAMP7","VPS37D","VPS53","WDR11","WDR19","WDR35","WNT1","WNT3A","WRAP53","WRN","WT1","WWOX","XYLT2","ZBTB20","ZFPM2","ZNF469","ZSWIM7"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_DIAPHYSIS_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M35030","pmid":"","exactSource":"HP:0000940","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000940","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_DIAPHYSIS_MORPHOLOGY","geneSymbols":["ACAN","ACP5","ACTA1","ADNP","AIP","ALPL","ANAPC1","ANO5","ANTXR2","ARCN1","ARSB","ARSK","ATP6V0A2","ATP7A","ATRX","B2M","B3GALT6","B3GAT3","B4GALT7","B9D1","B9D2","BAZ1B","BCL7B","BCOR","BCR","BGN","BHLHA9","BMP1","BMPR1B","BPNT2","BRAF","BRF1","BUD23","CA2","CAMK2A","CANT1","CBFB","CBS","CC2D2A","CCDC134","CCDC47","CCN6","CDC45","CENPT","CEP290","CFL2","CHST3","CILK1","CLCN5","CLCN7","CLIP2","CLTCL1","COG5","COL10A1","COL11A1","COL11A2","COL1A1","COL1A2","COL2A1","COL9A1","COL9A2","COL9A3","COMP","CPLANE1","CREB3L1","CRKL","CRTAP","CSF1R","CSGALNACT1","CSPP1","CTC1","CTNS","CYP19A1","CYP27B1","CYP2R1","CYP3A4","DDR2","DDRGK1","DLK1","DMP1","DNAJC30","DYM","DYNC2H1","DYNC2I1","DYNC2LI1","EFL1","EHHADH","EIF2AK3","EIF4H","ELN","ENPP1","ESCO2","EVC","EVC2","EXT1","EXT2","FAM111A","FAM20C","FBN1","FBN2","FGF23","FGFR1","FGFR2","FGFR3","FIBP","FIG4","FKBP10","FKBP6","FLNA","FLNB","FN1","GALNS","GAN","GDF5","GJA1","GLB1","GLI1","GLI3","GNAS","GNPTG","GORAB","GPR101","GTF2I","GTF2IRD1","GTF2IRD2","GUSB","H3-3B","HBB","HEATR3","HERC2","HNRNPH1","HOXA11","HPGD","HS2ST1","HS6ST1","HSPG2","IARS2","IDH1","IDS","IDUA","IFIH1","IFT122","IFT172","IFT43","IFT52","IFT57","IHH","IL6ST","INPPL1","IPO8","KANSL1","KAT6A","KDELR2","KIAA0753","KIF22","KIF7","KLHL41","KRAS","LAMA5","LBR","LIFR","LIMK1","LMOD3","LONP1","LRP4","LRP5","LTBP1","MAGEL2","MAN2B1","MAP2K1","MAP2K2","MAP3K7","MAPK1","MAPK8IP3","MATN3","MBTPS2","MCTP2","MEG3","MEGF8","METTL27","MKRN3","MKS1","MLXIPL","MMP13","MMP9","MPZ","MTAP","MTX2","NCF1","NDUFAF6","NEB","NEK8","NEK9","NEPRO","NF1","NFIX","NKX3-2","NOTCH2","NPAP1","NPR2","NSD1","OCRL","ORC1","ORC6","P3H1","P4HB","P4HTM","PAPSS2","PCNT","PCYT1A","PDGFRB","PEPD","PHEX","PLOD2","PMP22","POLR1A","POLR3A","POLRMT","POR","PRKACA","PRKACB","PRKG2","PTDSS1","PTH1R","PTPN11","PUS3","PWAR1","PWRN1","PYCR1","RAB23","RAB33B","RAD21","RBM8A","RECQL4","RFC2","RIPK4","RMRP","RNU4ATAC","ROR2","RPGRIP1","RPGRIP1L","RPL13","RPS6KA3","RSPO2","RSPRY1","RTL1","RUNX2","SATB2","SCARF2","SEC24D","SERPINH1","SETBP1","SF3B2","SFRP4","SGMS2","SH3PXD2B","SHOX","SKI","SLC10A7","SLC26A2","SLC2A2","SLC34A1","SLC34A3","SLC35D1","SLCO2A1","SMOC1","SNORD115-1","SNORD116-1","SNX10","SOST","SOX9","SP7","SPARC","SPART","SPRED1","SPTBN1","STX16","STX1A","TBC1D7","TBCE","TBL2","TBXAS1","TCIRG1","TCTN1","TCTN2","TCTN3","TENT5A","TFE3","TGDS","TGFB1","TMEM107","TMEM165","TMEM216","TMEM231","TMEM237","TMEM270","TMEM38B","TMEM53","TMEM67","TNFRSF11A","TNFRSF11B","TNFSF11","TONSL","TPM2","TRIP11","TRPS1","TRPV4","TRPV6","TUBB3","TXNDC15","UFSP2","UGP2","VAC14","VDR","VPS13B","VPS35L","VPS37D","WDR19","WDR35","WDR62","WNT7A","XYLT1","ZBTB20","ZEB2","ZNF699","ZPR1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DYSOSTOSIS_MULTIPLEX":{"collection":"C5:HPO","systematicName":"M35031","pmid":"","exactSource":"HP:0000943","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000943","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DYSOSTOSIS_MULTIPLEX","geneSymbols":["AGA","ARSB","CTSA","FGFR1","FUCA1","GALNS","GLB1","GNE","GNPTAB","GNPTG","GNS","GUSB","HGSNAT","IDS","IDUA","KRAS","LYSET","MAN2B1","NAGLU","NEU1","SGSH","SUMF1","VPS33A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_METAPHYSIS_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M35032","pmid":"","exactSource":"HP:0000944","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000944","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_METAPHYSIS_MORPHOLOGY","geneSymbols":["ABCC9","ACAN","ACP5","ACSL4","ACVR1","ADA","AIFM1","ALG3","ALG9","ALPL","AMER1","AMMECR1","ANAPC1","ANKH","ANTXR1","ARCN1","ARSB","ATP7A","B3GALT6","B3GAT3","B4GALT7","BGN","BMP1","BMPR1B","CANT1","CASR","CCDC8","CCN6","CDKN1C","CENPE","CEP120","CFAP410","CHD7","CHEK2","CHST3","CLCN5","CLCN7","COG4","COL10A1","COL11A1","COL11A2","COL2A1","COMP","CRTAP","CSF1R","CSGALNACT1","CSPP1","CTC1","CTNS","CUL7","CWC27","CYP27B1","CYP2R1","CYP3A4","DCLRE1C","DDR2","DDRGK1","DKC1","DLK1","DNAJC21","DYM","DYNC2H1","DYNC2I1","DYNC2I2","DYNC2LI1","EED","EFL1","EIF2AK3","ERCC1","EXOC6B","EXT1","EXT2","EXTL3","EZH2","FAM111A","FBN1","FGFR3","FIG4","FLNA","FN1","GALNS","GJA1","GLB1","GNAS","GNPTAB","GPC6","GPX4","GSC","HDAC6","HNRNPH1","HSPG2","IARS2","IDH1","IDH2","IDUA","IFT122","IFT140","IFT172","IFT43","IFT52","IFT80","IL2RG","IL6ST","IL7R","INPPL1","KCNE5","KCNJ8","KIAA0586","KIAA0753","KIF22","LBR","LIFR","LIG4","LMBR1","LONP1","LPIN2","LRP5","LRRK1","MAGEL2","MAP3K7","MATN3","MEG3","MMP13","MMP2","MMP9","MTAP","NANS","NDN","NEPRO","NHP2","NKX3-2","NOP10","NOTCH2","NOTCH3","NPM1","NPR2","NSD1","NSMCE2","OBSL1","OCRL","OSTM1","P4HB","PAM16","PARN","PCNT","PCYT1A","PDGFRB","PEX5","PEX7","PHEX","PIK3C2A","PISD","PITX1","PLCB3","PLEKHM1","POLE","POLR1A","POP1","PORCN","PRKG2","PTDSS1","PTH1R","PTPN11","QRICH1","RAB33B","RAB3GAP2","RAG1","RAG2","RASA1","RB1","RECQL4","RMRP","RNU4ATAC","RPL13","RSPRY1","RTEL1","RTL1","RUNX2","SBDS","SEC24D","SETBP1","SFRP4","SH3PXD2B","SHOX","SIK3","SKI","SLC17A5","SLC26A2","SLC29A3","SLC34A3","SLC35D1","SLC39A13","SMAD4","SNRPN","SNX10","SRP54","STX16","SUZ12","TAPT1","TBXAS1","TCIRG1","TERC","TERT","TGFB1","TINF2","TMEM165","TMEM53","TNFRSF11A","TNFRSF11B","TNFSF11","TONSL","TP53","TRAPPC2","TRIP11","TRPV4","TRPV6","TTC21B","TYMS","UFSP2","USB1","VAC14","VDR","VPS33A","WDR19","WDR26","WDR35","WRAP53","XYLT1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPOPLASTIC_ILIA":{"collection":"C5:HPO","systematicName":"M35033","pmid":"","exactSource":"HP:0000946","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000946","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASTIC_ILIA","geneSymbols":["ACP5","ARSB","B3GALT6","CCBE1","COL11A1","COL11A2","COL2A1","CREBBP","CTSK","DLK1","DYM","EED","EP300","ERCC6","ERCC8","EVC","EVC2","EZH2","FGFR3","FLNA","FLNB","FN1","GATA1","HDAC6","HSPG2","IFT81","IHH","INPPL1","KAT6B","LAMA5","LIFR","LYSET","MAN2B1","MEG3","NKX3-2","PCNT","PCYT1A","POLR3A","POP1","RIPK4","RMRP","RNU4ATAC","RPS19","RTL1","RUNX2","SLC26A2","SLC35D1","SMAD4","SOX9","TBX15","TMEM67","TRAPPC2","WDR19","WNT7A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DUMBBELL_SHAPED_LONG_BONE":{"collection":"C5:HPO","systematicName":"M35034","pmid":"","exactSource":"HP:0000947","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000947","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DUMBBELL_SHAPED_LONG_BONE","geneSymbols":["COL11A1","COL11A2","COL2A1","INPPL1","SLC26A2","SLC35D1","TRPV4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_JAUNDICE":{"collection":"C5:HPO","systematicName":"M35035","pmid":"","exactSource":"HP:0000952","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000952","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_JAUNDICE","geneSymbols":["ABCB11","ABCB4","ABCC2","ABCD3","ACADVL","ADAMTS13","ADAR","AKR1D1","ALDOA","ALDOB","ALG6","AMACR","ANK1","APC2","ARL13B","ATP11C","ATP6AP1","ATP6AP2","ATP7A","ATP7B","ATP8B1","BAAT","BRCA1","BRCA2","CA5A","CALR","CASK","CASR","CCDC115","CDAN1","CDIN1","CDKN2A","CFTR","CLDN1","COG7","COX4I2","CPA1","CPOX","CTCF","CTRC","CYP27A1","CYP7B1","DCDC2","DEF6","DGUOK","DHFR","DPAGT1","DUOX2","DUOXA2","DZIP1L","EIF2AK3","EPB41","EPB42","ETFA","ETFB","ETFDH","F5","FCGR3B","FLI1","FOCAD","G6PD","GALE","GALK1","GALM","GALT","GCLC","GH1","GLRX5","GPI","GPR35","GYPC","HBB","HBG2","HESX1","HK1","HMGCL","HNF1B","HSD3B7","HTRA2","HYOU1","IARS1","IER3IP1","IFIH1","IL12A","IL12RB1","IL18BP","IL2RG","IRF5","IYD","JAG1","JAK2","KCNN4","KIF12","KIF23","KMT2D","KMT2E","KRAS","KRT18","KYNU","LBR","LHX3","LHX4","LIPA","LPL","LSM11","LYST","MED12","MMACHC","MMEL1","MPV17","MST1","MYO5B","NAA10","NBAS","NKX2-5","NPC1","NPC2","NR1H4","NSD1","OCLN","PALB2","PALLD","PARS2","PAX8","PEPD","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PFKM","PIEZO1","PIGA","PKD2","PKHD1","PKLR","POLG","POLG2","POU1F1","POU2AF1","PRF1","PRKAR1A","PROP1","PRPS1","PRSS1","PRSS2","PTPN3","RAB27A","RABL3","RHAG","RHCE","RHD","RINT1","RNASEH2A","RNASEH2B","RNASEH2C","RNU4ATAC","RNU7-1","SAMHD1","SEC23B","SEMA4D","SERPINA1","SETD2","SKIC3","SLC10A1","SLC16A2","SLC25A13","SLC26A4","SLC2A1","SLC30A10","SLC37A4","SLC44A1","SLC4A1","SLC51B","SLC5A5","SLCO1B1","SLCO1B3","SMAD4","SMPD1","SP110","SPIB","SPINK1","SPOP","SPTA1","SPTB","SPTBN1","STX11","STXBP2","TBX19","TCF4","TFAM","TG","TNFSF15","TNPO3","TP53","TPI1","TPO","TREX1","TRHR","TRMU","TSHB","TSHR","TTC26","TULP3","UGT1A1","UNC13D","UNC45A","UROS","USP53","VIPAS39","VPS33B","YARS1","ZFYVE19"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPERPIGMENTATION_OF_THE_SKIN":{"collection":"C5:HPO","systematicName":"M35036","pmid":"","exactSource":"HP:0000953","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000953","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERPIGMENTATION_OF_THE_SKIN","geneSymbols":["AAAS","ABCB6","ABCC9","ABCD1","ACD","ACP5","ACTB","ADAR","ADH5","AIP","AKT1","ALAS2","ALDH3A2","ANAPC1","ANKLE2","ANTXR2","APC","APC2","APOE","ARL6IP6","ATM","ATP2A2","ATP6V1B2","ATRX","BANF1","BLM","BMP2","BMP6","BRAF","BRCA1","BRCA2","BRIP1","BTNL2","BUB1","BUB1B","BUB3","C1R","C1S","CARD14","CASR","CBL","CD28","CDH23","CDKN1A","CDKN1B","CDKN1C","CDKN2B","CDKN2C","CEP57","CHN1","CIB1","CLCN7","CLTRN","COL17A1","COL25A1","COL3A1","COL7A1","COPB1","COX7B","CPOX","CREBBP","CRIPT","CSTA","CTC1","CTLA4","CWC27","CYBA","CYBB","CYBC1","CYP11A1","CYP11B1","DDB2","DDX11","DHX30","DKC1","DNASE1L3","DPP9","DSTYK","EP300","ERCC1","ERCC2","ERCC3","ERCC4","ERCC5","ERCC6","ERCC8","ESCO2","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FERMT1","FGFR1","FGFR3","GATA1","GBA1","GJA1","GJB3","GJB4","GJB6","GMPPA","GNA11","GNAQ","GNAS","GNB2","GPNMB","GPR101","H4C5","HAMP","HBB","HCCS","HEPACAM","HFE","HGD","HJV","HLA-DRB1","HMGA2","HPS1","HRAS","HSD3B2","IFNG","IGF1","IGF2","IKBKG","IL12A","IL12RB1","IL6","IL7","INSR","IRF4","IRF5","JAK3","KANSL1","KCNH1","KCNMA1","KCNN3","KDM5C","KDM6A","KDM6B","KDSR","KIT","KITLG","KLLN","KMT2D","KNSTRN","KRAS","KRT14","KRT5","LBR","LEMD3","LMNA","LYST","LZTR1","MAD2L2","MAFB","MAN1B1","MAP2K1","MAP2K2","MAPK1","MAPRE2","MAX","MC1R","MC2R","MCM4","MED12","MEN1","MLH1","MMEL1","MMP2","MRAP","MSH2","MSH6","MTOR","MYO5A","NBN","NCF1","NCF2","NCF4","NDUFB11","NF1","NF2","NHP2","NNT","NOD2","NOP10","NOTCH3","NPM1","NR0B1","NR3C1","NRAS","NSD1","OCA2","PALB2","PANK2","PARN","PAX6","PCNT","PDE11A","PDGFRA","PDGFRB","PHIP","PIDD1","PIGN","PIK3CA","PIK3CD","PLAG1","PLEC","PLXND1","PMS2","POFUT1","POGLUT1","POLA1","POLE","POLH","PORCN","POU2AF1","PPOX","PPP1CB","PRKAR1A","PSENEN","PSMB8","PTEN","PTPN11","RAD51","RAD51C","RAF1","RBBP8","RBM28","RECQL4","RERE","RET","REV3L","RFWD3","RFX7","RIT1","RPA1","RPS27","RTEL1","SALL4","SASH1","SDHA","SDHB","SDHC","SDHD","SEC23A","SEC23B","SET","SETBP1","SETD2","SGPL1","SH3PXD2B","SHOC2","SKIC2","SKIC3","SLC27A4","SLC29A3","SLC40A1","SLC6A19","SLC9A1","SLF2","SLX4","SMARCA2","SMARCAD1","SMARCAL1","SMG8","SMS","SNRPN","SOX10","SPIB","SPINK5","SPRED1","SRD5A3","ST3GAL5","STAR","STEAP3","STK11","SVBP","TERC","TERT","TFR2","TGM5","TINF2","TMC6","TMC8","TMEM127","TNFRSF1A","TNFRSF1B","TNFSF15","TNPO3","TOP3A","TP53","TP53RK","TP63","TRAPPC11","TRIP13","TSC1","TSC2","TUBB","TWIST2","TXNRD2","TYMS","UBE2A","UBE2T","UBR1","UROD","UROS","USB1","USF3","USP48","USP8","VHL","WASF1","WBP11","WRAP53","XPA","XPC","XRCC2","ZFHX4","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SINGLE_TRANSVERSE_PALMAR_CREASE":{"collection":"C5:HPO","systematicName":"M35037","pmid":"","exactSource":"HP:0000954","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000954","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SINGLE_TRANSVERSE_PALMAR_CREASE","geneSymbols":["ADNP","AFF3","ALDH6A1","ANKRD11","APC","ARID1B","ARL3","ATR","B3GLCT","B4GALT7","BHLHA9","BICD2","BMP4","BMPR1B","BRD4","BRF1","CCBE1","CCNQ","CD96","CDC42BPB","CDK19","CEP55","CEP57","CHST3","CILK1","CKAP2L","CLCN7","COG1","COX14","COX7B","CPLX1","CREBBP","CSGALNACT1","CSNK2A1","CTBP1","CTCF","DDX11","DHX30","DIS3L2","DLK1","DLX4","DOCK6","DPAGT1","DPH1","DPH2","EHMT1","EP300","ESCO2","EXT1","EXTL3","EZH2","FBXO28","FGD1","FGF9","FGFR2","FGFR3","FGFRL1","FIG4","FLNA","FOXP1","G6PC3","GATA1","GDF5","GJA5","GJA8","GLE1","GLYCTK","GNB2","GRIN1","H3-3A","H4C9","HCCS","HDAC4","HDAC8","IFT122","IFT43","IFT57","IGF1","ITCH","JARID2","KAT6B","KATNB1","KCNK9","KDM4B","KMT2D","LETM1","LIFR","LMX1B","LONP1","LTBP4","MAP1B","MAP3K7","MCTP2","MED12","MED25","MEF2C","MEG3","MEGF8","MSL3","MTFMT","MYH3","NAA20","NALCN","NBAS","NDUFB11","NECTIN1","NEXMIF","NGLY1","NIPBL","NOG","NSD2","NSDHL","NUP107","NUP188","NXN","PACS1","PDHA1","PEPD","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PIEZO2","PIGS","PKDCC","PLAA","PNPLA6","POLRMT","PPP2CA","PPP2R3C","PPP3CA","PTPRF","PUF60","RAB11B","RAD21","RBM10","RIN2","RNU4ATAC","ROR2","RPL10","RPS23","RPS6KA3","RTL1","SEPSECS","SET","SETBP1","SLC25A12","SMAD2","SMARCA2","SMARCAD1","SMC1A","SMC3","SMC5","SMOC1","SMPD4","SMS","SPRTN","SPTBN1","STAG1","STXBP1","TAF6","TASP1","TBX4","TCF12","TCF4","TELO2","TFAP2A","TGDS","THOC2","TMEM147","TNNI2","TNNT3","TOE1","TPM2","TRIM37","TRIM8","TRIO","TRPS1","TSEN15","TSEN2","TSEN34","TSEN54","TWIST1","UBE3B","UBR1","UBR7","UFC1","VAC14","VPS13B","VPS51","WAC","XYLT1","ZMYM2","ZNF292","ZNF462"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ACANTHOSIS_NIGRICANS":{"collection":"C5:HPO","systematicName":"M35038","pmid":"","exactSource":"HP:0000956","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000956","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACANTHOSIS_NIGRICANS","geneSymbols":["ABCC8","AFF4","AGPAT2","AIP","AKT2","ALMS1","APPL1","BLK","BSCL2","BUB1","CAV1","CAVIN1","CEL","CHD8","CIDEC","CLDN1","COPB1","CUL4B","CYP19A1","ELOVL1","ERF","ESR1","FGFR2","FGFR3","FOS","FOXG1","GCK","GPR101","HNF1A","HNF4A","HRAS","HSD11B1","INS","INSR","JARID2","JUP","KCNJ11","KLF11","LIPE","LMNA","MC4R","NEUROD1","NSMCE2","PAX4","PCSK1","PDX1","PEX1","PEX6","PKDCC","PLIN1","POLR3A","POMC","PPARG","PSMB4","PSMB8","PSMB9","SMARCD2","SPINK5","SUPT16H","TFE3","XRCC4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CAFE_AU_LAIT_SPOT":{"collection":"C5:HPO","systematicName":"M35039","pmid":"","exactSource":"HP:0000957","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000957","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CAFE_AU_LAIT_SPOT","geneSymbols":["ABCB6","ABCC9","AKT1","ANAPC1","APC","ARL6IP6","ATM","BLM","BRAF","BRCA1","BRCA2","BRIP1","BUB1","BUB1B","BUB3","CBL","CDKN1C","CEP57","CIB1","CLCN7","COL25A1","COPB1","CREBBP","CWC27","DHX30","EP300","ERCC4","ESCO2","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","GNA11","GNB2","H4C5","HEPACAM","HMGA2","IFNG","IGF1","IGF2","IL7","KANSL1","KDM5C","KDM6A","KDM6B","KITLG","KLLN","KMT2D","KRAS","LZTR1","MAD2L2","MAN1B1","MAP2K1","MAP2K2","MAPK1","MAX","MED12","MEN1","MLH1","MSH2","MSH6","MTOR","NBN","NF1","NF2","NRAS","PALB2","PCNT","PDE11A","PHIP","PIK3CA","PLAG1","PLXND1","PMS2","POLE","PPP1CB","PRKAR1A","PTEN","PTPN11","RAD51","RAD51C","RAF1","RBBP8","RERE","RET","REV3L","RFWD3","RFX7","SDHB","SDHC","SDHD","SEC23B","SET","SETBP1","SH3PXD2B","SHOC2","SKIC2","SKIC3","SLC9A1","SLF2","SLX4","SMARCA2","SOX10","SPRED1","STEAP3","TMC6","TMC8","TMEM127","TOP3A","TP63","TRIP13","TSC1","TSC2","TWIST2","UBE2T","UBR1","USF3","VHL","WASF1","WBP11","XRCC2","ZFHX4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DRY_SKIN":{"collection":"C5:HPO","systematicName":"M35040","pmid":"","exactSource":"HP:0000958","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000958","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DRY_SKIN","geneSymbols":["AARS1","ABCA1","ABCA12","ACD","ADA","ADAR","ALDH3A2","ALG11","ALOX12B","ALOXE3","ARNT2","ASPRV1","ATP7A","BANF1","BAP1","BRAF","CAMK2B","CARS1","CASR","CAST","CAV1","CD28","CDK4","CDKN2A","CDKN2B","CHD7","CLDN1","CLDN10","COG6","CST6","CSTB","CTLA4","CYP4F22","DCLRE1C","DDB2","DDOST","DOLK","DPP9","EDA","EDAR","EDARADD","ELOVL1","ELOVL4","ERCC2","ERCC3","ERCC4","ERCC5","ERCC6","ERCC8","EXOC2","FDFT1","FGFR1","FLG","FLG2","FUCA1","GINS1","GJA1","GJB3","GJB4","GNA11","GNB2","GPNMB","GSN","GTF2E2","GTF2H5","HESX1","IDH1","IFIH1","IFT43","IL2RG","IL7R","INSR","KANSL1","KCTD1","KDSR","KIF11","KIF15","KRAS","KRT1","KRT14","KYNU","LIG4","LIPN","LSM11","MAP2K1","MAP2K2","MAPK1","MBTPS2","MC1R","MGMT","MITF","MPDU1","MPLKIP","MYSM1","NAGA","NFKBIA","NIPAL4","NLRP1","NOD2","NOTCH2","NSUN2","NTRK1","ODC1","OFD1","OSMR","OTX2","PAH","PAX8","PCNT","PEPD","PEX11B","PEX7","PGM2L1","PHYH","PIGL","POLH","POLR3A","POT1","PPP2R3C","PRKD1","PROKR2","PTPN11","RAF1","RAG1","RAG2","RALGAPA1","RECQL","RIPK4","RMRP","RNASEH2A","RNASEH2B","RNASEH2C","RNF113A","RNF168","RNU4ATAC","RNU7-1","RYR1","SAMHD1","SASH1","SATB1","SDR9C7","SKIC2","SKIC3","SLC39A4","SLC5A5","SLF2","SMARCAD1","SMG8","SOX2","SOX3","SPEN","SPINK5","SPRED2","SRD5A3","STS","SULT2B1","TARS1","TERF2IP","TERT","TGM1","THRA","TINF2","TNFRSF1B","TP63","TREX1","TRH","TRHR","TRIP4","TRPM1","TSHB","TTC5","TWIST2","UBE2A","UVSSA","WNT10A","WNT10B","XPA","XPC","ZNF341"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CYANOSIS":{"collection":"C5:HPO","systematicName":"M35041","pmid":"","exactSource":"HP:0000961","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000961","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CYANOSIS","geneSymbols":["ABCA3","ABCC6","ACTC1","ACVRL1","ADAMTS19","ADAR","AGRN","AGXT","AK9","CHAT","CHRNA1","CHRNB1","CHRND","CHRNE","CITED2","COL13A1","COL1A1","COL5A1","COL5A2","CYB5A","CYB5R3","DOK7","EIF2AK4","ELP1","ENG","ENPP1","ETHE1","FUCA1","GABRA1","GABRG2","GATA4","GATA6","GRIK2","GTPBP3","HBA1","HBB","HBG2","HLA-DRB1","HSD17B10","IFIH1","KCNQ2","KCNQ3","KLHL7","LMNA","LRP4","LSM11","MMP21","MT-CYB","MUSK","MVK","MYH6","MYO9A","NDUFS4","NKX2-5","NKX2-6","NUP214","PAX3","PCDH19","PCK1","PLD1","PLXND1","PRKAG2","PRRT2","PSAT1","PUS3","RAPSN","RBM10","RNASEH2A","RNASEH2B","RNASEH2C","RNU7-1","RPS6KA3","SAMHD1","SCN1A","SCN1B","SCN2A","SCN4A","SCN8A","SCN9A","SEPTIN9","SFTPB","SFTPC","SLC18A3","SLC25A1","SLC25A20","SLC25A3","SLC2A1","SLC34A2","SLC5A7","SNAP25","SYT2","TBX20","TCF4","TLL1","TMEM260","TREX1","TXNDC15","VAMP1","ZIC3","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPERKERATOSIS":{"collection":"C5:HPO","systematicName":"M35042","pmid":"","exactSource":"HP:0000962","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000962","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERKERATOSIS","geneSymbols":["AAAS","AAGAB","ABCA12","ABCC9","ACTC1","ACTN2","ADAM10","ADAMTS2","AKT1","ALDH3A2","ALOX12B","ALOXE3","ANAPC1","ANGPT2","ANKRD1","AP1B1","AP1S1","AQP5","ASPRV1","ATL1","ATL3","ATP2A2","ATP2C1","BAG3","BAG5","BRAF","CAP2","CARD14","CAST","CD28","CDH3","CDSN","CERS3","CFTR","CLEC7A","COG6","COL12A1","COL14A1","COL17A1","COL6A1","COL6A2","COL6A3","COL7A1","CRYAB","CSRP3","CST6","CSTA","CTC1","CTLA4","CTSC","CYP4F22","DDB2","DDR2","DES","DIP2B","DKC1","DMD","DNAJC21","DOLK","DSC2","DSC3","DSG1","DSG2","DSG4","DSP","DST","ECM1","ELMO2","ELOVL1","ELOVL4","ENPP1","EPHB4","ERCC2","ERCC3","ERCC4","ERCC5","ERMARD","EXPH5","FERMT1","FGFR2","FHL2","FIG4","FKBP14","FKTN","FLG","FLT4","FUCA1","GATAD1","GBA1","GJA1","GJB2","GJB3","GJB4","GJB6","GJC2","GLA","GLS","GMPPA","GRHL2","HAND2","HDAC6","HLA-B","HLA-DRA","HPGD","HRAS","IKBKG","IL17F","IL17RA","IL17RC","IL1RN","INSR","ITGB4","JPH2","JUP","KANK2","KANSL1","KDF1","KDSR","KITLG","KLHL24","KLLN","KRAS","KRT1","KRT10","KRT13","KRT14","KRT16","KRT17","KRT2","KRT5","KRT6A","KRT6B","KRT6C","KRT74","KRT81","KRT83","KRT86","KRT9","LAMA3","LAMA4","LAMB3","LAMC2","LDB3","LIPN","LMNA","LMOD2","LORICRIN","LRP1","LSS","LZTR1","MAD1L1","MAP2K1","MAP2K2","MBTPS2","MCOLN1","MDFIC","MMP1","MPDU1","MT-TS1","MTX2","MVK","MYBPC3","MYH6","MYH7","MYPN","NAGA","NECTIN1","NECTIN4","NEU1","NEXN","NHP2","NIPAL4","NLRP1","NOP10","NPM1","NSDHL","PARN","PDGFRB","PEPD","PERP","PIEZO1","PIGL","PIK3CA","PKP1","PLEC","PLN","PLOD1","PMVK","PNPLA1","POFUT1","POGLUT1","POLA1","POMP","PPCS","PRDM16","PSEN1","PSEN2","PSENEN","PTEN","RAF1","RBM20","RBP4","RECQL4","RHBDF2","RIGI","RIT1","RNU4ATAC","RPL3L","RSPO1","RTEL1","SASH1","SCN5A","SDHA","SDHB","SDHC","SDHD","SDR9C7","SEC23B","SERPINA12","SERPINB7","SERPINB8","SGCD","SHOC2","SLC27A4","SLCO2A1","SLURP1","SMARCAD1","SNAP29","SOX18","SPTLC1","SPTLC2","SRD5A3","SREBF1","ST14","STS","SULT2B1","TAF1A","TAFAZZIN","TARS1","TAT","TCAP","TERC","TERT","TGM1","TINF2","TMPO","TMPRSS6","TNFRSF1B","TNNC1","TNNI3","TNNT2","TP63","TPM1","TRAF3IP2","TRAPPC11","TRIP4","TRPM4","TRPV3","TTN","TXNRD2","TYMS","TYR","USB1","USF3","VCL","VEGFC","VEZF1","VPS33B","WNT10A","WRAP53","WRN","XPA","XPC","ZC4H2","ZMPSTE24","ZNF750"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_THIN_SKIN":{"collection":"C5:HPO","systematicName":"M35043","pmid":"","exactSource":"HP:0000963","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000963","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THIN_SKIN","geneSymbols":["ABL1","ADAMTS2","ADAMTSL2","ADNP","AIP","ALDH18A1","ARF1","ARFGEF2","ATRX","B3GALT6","B4GALT7","BRAF","C1R","CAV1","CDH23","CHUK","COL1A1","COL1A2","COL3A1","COL7A1","CTC1","DDB2","DDR2","DHX30","EDA","EDAR","EDARADD","ERCC2","ERCC3","ERCC4","ERCC5","ERMARD","FLNA","FMR1","GNAS","GORAB","IFT140","IPO8","KDF1","KRT2","LIFR","LMNA","MAP1B","MTAP","NEDD4L","NFIX","NR3C1","ORC1","PDE11A","PDGFRB","PEPD","PIK3R1","PLOD1","POLR3A","PORCN","PPARG","PPP1CB","PRKAR1A","PRKD1","PROC","PROS1","PTDSS1","PYCR1","RBCK1","RECQL","SATB2","SLC2A10","SLC39A13","SMARCAD1","SOX18","TGFBR1","TGFBR2","TMTC3","TNXB","TP53","TP63","TRAF6","TWIST2","UBE3B","USP48","USP8","WNT10A","XPA","XPC","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ECZEMA":{"collection":"C5:HPO","systematicName":"M35044","pmid":"","exactSource":"HP:0000964","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000964","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ECZEMA","geneSymbols":["AARS1","ABCC9","ADA2","ARVCF","AUTS2","BRAF","BTD","C5","CAMK2B","CARD11","CARD14","CARMIL2","CARS1","CASP8","CASR","CD28","CD3G","CDSN","CFTR","CIB1","COMT","CST6","CSTA","CTLA4","CYBA","CYBB","CYBC1","DDX41","DHCR7","DNAJC21","DOCK8","DPP9","EDA","EDAR","EDARADD","EFL1","ERCC2","ERCC3","FECH","FLG","FLG2","FLI1","FOCAD","FOXN1","FOXP3","GGT1","GINS1","GNA11","GNB2","GP1BB","GTF2E2","GTF2H5","H3-3B","HDAC4","HIRA","HLA-DQA1","HLA-DQB1","HLA-DRB1","HLCS","HPGD","HSPA9","IFIH1","IGHG2","IGKC","IKBKG","IL17RA","IL21R","IL2RA","IL4R","IL6R","IL6ST","IL7","IL7R","IPO8","JAK1","JMJD1C","KANSL1","KARS1","KDF1","KRT1","KRT74","LBR","LGI3","LIG1","LIG4","LRRC32","MBTPS2","MCCC2","MORC2","MPDU1","MPLKIP","MS4A2","MSN","MTHFD1","MYSM1","NAA10","NBEA","NCF1","NCF2","NCF4","NEK9","NFKBIA","NOD2","NSMCE3","NSUN2","NUP107","PAH","PCCA","PCCB","PEPD","PGM2L1","PGM3","PIGA","PIK3CA","PIK3CG","PLA2G7","POLE","PRMT7","RAC1","RBCK1","RBM8A","RFX7","RIT1","RNF113A","RNU12","RNU4ATAC","RRAS2","RREB1","RTTN","SBDS","SCNN1A","SCNN1B","SCNN1G","SEC24C","SHOC2","SIK3","SIN3A","SLC30A2","SLC39A7","SLCO2A1","SLF2","SMARCA2","SMARCC2","SMG8","SPINK5","SRCAP","SRD5A3","SRP54","STAT1","STAT3","STAT5B","SUOX","TAF1","TARS1","TBC1D2B","TBCK","TBX1","TGM5","TKT","TMC6","TMC8","TNFRSF1B","TOM1","TP63","TPR","TRAF3IP2","TRAF6","UFD1","WAS","WIPF1","ZAP70","ZNF341","ZNF750"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CUTIS_MARMORATA":{"collection":"C5:HPO","systematicName":"M35045","pmid":"","exactSource":"HP:0000965","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000965","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CUTIS_MARMORATA","geneSymbols":["ABCC9","ABL1","ACTA2","ADA2","ADAR","AGXT","AKT3","ARHGAP31","ARID1B","ARL6IP6","BRD4","CAV1","CBS","DDX11","DHCR7","DLL4","DOCK6","ELN","EOGT","FBN1","FOXE3","FTO","GNA11","GUCY1A1","H4C3","HDAC8","HEATR3","HEY2","IFIH1","LARP7","LIG4","LOX","LSM11","MAT2A","MFAP5","MYD88","MYH11","MYLK","NFIA","NFIX","NIPBL","NOTCH1","NSUN2","PIK3CA","POLA1","PRKG1","PTDSS1","PTEN","RAD21","RBPJ","RNASEH2A","RNASEH2B","RNASEH2C","RNF113A","RNU7-1","RPS6KA3","SAMHD1","SMAD2","SMAD3","SMAD4","SMC1A","SMC3","SOX18","STAG1","STING1","TGFB2","TGFB3","TGFBR1","TGFBR2","THSD4","TREX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPOHIDROSIS":{"collection":"C5:HPO","systematicName":"M35046","pmid":"","exactSource":"HP:0000966","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000966","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOHIDROSIS","geneSymbols":["ABCA12","ADAT3","ALOX12B","ALOXE3","ALX4","ARNT2","ARX","CASK","CERS3","CLCF1","CLDN10","COG6","COL11A1","COQ2","CRLF1","CST6","CSTB","CTNS","EDA","EDA2R","EDAR","EDARADD","ELOVL4","ELP1","ERCC4","ERCC6","ERCC8","FAM111B","FGFR1","FLG","GHR","GJB2","GJB6","GLA","GMPPA","HESX1","HEXB","IKBKG","IL6ST","KCTD1","KDF1","KRT14","LIFR","LMNB1","MADD","MBTPS2","NECTIN1","NFKBIA","NIPAL4","OTX2","PKP1","PNPLA1","POLA1","PRDM12","PROKR2","RIPK4","ROGDI","SCN9A","SDR9C7","SHANK3","SLC13A5","SMARCAD1","SOX10","SOX2","SOX3","ST14","STIM1","STS","SULT2B1","TGM1","TP63","TRAF6","TRIP4","TSPEAR","WNT10A","ZFHX2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PETECHIAE":{"collection":"C5:HPO","systematicName":"M35047","pmid":"","exactSource":"HP:0000967","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000967","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PETECHIAE","geneSymbols":["APOE","BCOR","CALR","CASP10","CD109","CLCN7","DCLRE1B","DPP9","ETHE1","ETV6","F8","FCGR2C","FERMT3","FIP1L1","FUCA1","FYB1","GATA1","GBA1","GFI1B","GIMAP5","GNA14","GP1BA","GP1BB","GP9","HCK","HOXA11","IRF2BP2","ITGA2","ITGA2B","ITGB3","JAK2","LCP2","MPL","NABP1","NAGA","NEU1","NPM1","NUMA1","OCLN","PEPD","PML","PRF1","PRKAR1A","RAB27A","RARA","SAMD9","STAT3","STAT5B","STX11","STXBP2","TBL1XR1","TET2","TREX1","UNC13D","USP18","VWF","WAS","WIPF1","ZBTB16"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ECTODERMAL_DYSPLASIA":{"collection":"C5:HPO","systematicName":"M35048","pmid":"","exactSource":"HP:0000968","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000968","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ECTODERMAL_DYSPLASIA","geneSymbols":["ATP6V1B2","AXIN2","CDH3","EDA","EDAR","EDARADD","EVC","EVC2","GJB6","HOXC13","IFT122","IFT43","IKBKG","KANSL1","KREMEN1","KRT74","KRT85","MBTPS2","NECTIN1","NECTIN4","NFKBIA","NLRP1","ORAI1","PKP1","SMARCAD1","TP63","WDR35","WNT10A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ANHIDROSIS":{"collection":"C5:HPO","systematicName":"M35049","pmid":"","exactSource":"HP:0000970","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000970","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANHIDROSIS","geneSymbols":["ALOX12B","ALOXE3","ALPK1","BCS1L","CAMK2B","CLDN10","COL25A1","COQ2","DPP9","EDA","EDAR","EDARADD","ERCC6","ERCC8","FUCA1","KIF1A","KRT14","LMNB1","MBTPS2","NFKBIA","NGF","NGLY1","NTRK1","PAX9","PERP","PKP1","RETREG1","RYR1","SCN9A","SPTLC2","TRPV3","WNK1","ZFHX4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_SWEAT_GLAND_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M35050","pmid":"","exactSource":"HP:0000971","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000971","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SWEAT_GLAND_MORPHOLOGY","geneSymbols":["CDH3","EDA","EPS8L3","HOXC13","IKBKG","KDF1","KRT14","KRT71","KRT74","KRT85","LIPH","LMNA","LPAR6","MSX1","NFKBIA","NTRK1","RPL21","SOX18","TBX3","TP63","ZMPSTE24","ZNF141"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CUTIS_LAXA":{"collection":"C5:HPO","systematicName":"M35051","pmid":"","exactSource":"HP:0000973","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000973","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CUTIS_LAXA","geneSymbols":["AARS1","ABCC6","ADAMTS2","AEBP1","ALDH18A1","ALG12","ALG8","ANTXR1","ASXL1","ATP6AP1","ATP6AP2","ATP6V0A2","ATP6V1A","ATP6V1E1","ATP7A","B3GALT6","B3GAT3","B4GALT1","B4GALT7","BAZ1B","BCL11B","BCL7B","BRAF","BUD23","C1R","CD96","CDK13","CEP55","CHST14","CHST3","CLIP2","COL3A1","CSPP1","DLK1","DNAJC30","DSE","EBP","EED","EFEMP2","EIF4H","ELN","EXT1","EZH2","FBLN5","FBN1","FGF20","FGFR2","FGFR3","FIG4","FKBP14","FKBP6","FLNA","FOXC1","GATA1","GGCX","GNB2","GORAB","GPX4","GSN","GTF2I","GTF2IRD1","GTF2IRD2","H1-4","HPGD","HRAS","IFT140","IFT43","IPO8","KIAA0586","KRAS","LIMK1","LTBP1","LTBP4","LZTR1","MAN1B1","MAP2K1","MAP2K2","MEG3","MEGF8","METTL27","MLXIPL","MRAS","MRPS16","MRPS22","NAA10","NBAS","NCF1","NDUFB10","NDUFB11","NEPRO","NPR2","NSD1","OTUD5","PEX1","PITX2","PLOD1","PRMT7","PTDSS1","PTEN","PYCR1","RAD21","RFC2","RIN2","RIT1","RPS6KA3","RTL1","SH3PXD2B","SLC25A24","SLC2A10","SLC6A8","SLC7A7","SPINT2","SRD5A3","STX1A","SUZ12","TBL2","TBX15","TGFB2","TMEM270","TRAF7","TRPS1","TWIST2","VAC14","VPS37D","WDR19","WDR35","WDR37","WDR81","XYLT1","XYLT2","ZNF469"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPEREXTENSIBLE_SKIN":{"collection":"C5:HPO","systematicName":"M35052","pmid":"","exactSource":"HP:0000974","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000974","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPEREXTENSIBLE_SKIN","geneSymbols":["ABCC6","ADAMTS2","ADAMTSL2","AEBP1","AKT3","ALDH18A1","ANTXR1","ATP7A","B3GALT6","B3GAT3","B4GALT7","BRAF","C1R","C1S","CHST14","CHST3","COL12A1","COL1A1","COL1A2","COL3A1","COL5A1","COL5A2","DSE","EHMT1","ELN","ENPP1","FBLN5","FBN1","FGD1","FGFR2","FKBP14","FLNA","GBA1","GORAB","H4C5","IARS1","INSR","IPO8","KMT2C","KRAS","LZTR1","MAP2K1","MAP2K2","PAX2","PDGFRB","PLOD1","PRDM5","PTPN11","PUF60","PYCR1","RAF1","RIN2","RIT1","SHOC2","SKI","SLC26A2","SLC2A10","SLC39A13","SLC7A7","SMARCD2","SON","TGFB2","TNXB","TWIST2","WLS","XYLT2","YY1","ZNF469"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPERHIDROSIS":{"collection":"C5:HPO","systematicName":"M35053","pmid":"","exactSource":"HP:0000975","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000975","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERHIDROSIS","geneSymbols":["ABCC8","AIP","ALDOB","ATP1A2","ATP1A3","BCL10","BIRC3","BOLA3","BRAF","CACNA1A","CACNA1S","CCND1","CDH23","CDH3","CDKN2A","CDSN","CFTR","CLCF1","CLCN6","CLCNKB","COL17A1","COL6A1","COL6A2","COL6A3","CRLF1","CTC1","CTNNB1","CTSB","CUL4B","DDC","DKC1","DLST","DNMT3A","DSG1","DST","ELP1","EPAS1","FGFR2","FH","FLRT1","FOXP1","FUCA1","GABRA3","GNA14","GPR101","GRB10","H19","HEXB","HINT1","HLA-B","HLA-DRB1","HMBS","HNF1A","HNF4A","HNRNPK","HPGD","HRAS","IGF2","IGHMBP2","IKBKG","IL12B","IL6ST","JAK2","JUP","KCNA1","KCNJ11","KCNJ18","KIF1A","KIF1B","KLC2","KRT1","KRT14","KRT16","KRT17","KRT5","KRT6A","KRT6B","KRT9","LAMB3","LIFR","LPAR6","MALT1","MAP2K1","MAP2K2","MAX","MBTPS2","MDH2","MEN1","MLX","MPL","NECTIN1","NF1","NGLY1","NHP2","NLRP3","NOP10","NPM1","NTRK1","P4HA2","PARN","PERP","PHOX2B","PLAA","PRKAR1A","PRNP","PTPN22","RET","RETREG1","RSPO1","RTEL1","SCN11A","SCN9A","SDHA","SDHAF2","SDHB","SDHC","SDHD","SERPINB7","SHQ1","SLC12A3","SLC18A2","SLC1A3","SLC25A11","SLC39A14","SLCO2A1","SLURP1","SPR","SPRED2","SUCLA2","SUCLG1","TAT","TERC","TERT","THPO","TINF2","TMEM127","TP53","TRANK1","TRPV3","TYMS","UCP2","USB1","VHL","WNK1","WNT10A","WRAP53","YY1","ZNRF3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ECZEMATOID_DERMATITIS":{"collection":"C5:HPO","systematicName":"M35054","pmid":"","exactSource":"HP:0000976","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000976","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ECZEMATOID_DERMATITIS","geneSymbols":["BTD","CYBA","CYBB","FLG","FOXP3","HPGD","NCF1","NCF2","SLC39A7","SLCO2A1","STAT3","ZAP70"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SOFT_SKIN":{"collection":"C5:HPO","systematicName":"M35055","pmid":"","exactSource":"HP:0000977","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000977","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SOFT_SKIN","geneSymbols":["ABL1","ADAMTS2","ATP6V1B2","ATP7A","B3GALT6","C1R","COL12A1","COL1A1","COL1A2","COL5A1","COL5A2","EDA","EFEMP2","ELN","FKBP14","IARS1","INPPL1","KCNH1","KCNMA1","KCNN3","KIF22","MAN2B1","MAP3K7","MGP","MICU1","MLXIPL","MTAP","PAX2","PIGQ","PLOD1","PRDM5","PRMT7","RIN2","SLC2A10","SMAD3","SON","SPARC","TGFBR1","TGFBR2","TNXB","XYLT1","ZNF469"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BRUISING_SUSCEPTIBILITY":{"collection":"C5:HPO","systematicName":"M35056","pmid":"","exactSource":"HP:0000978","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000978","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BRUISING_SUSCEPTIBILITY","geneSymbols":["ABCC6","ACTA2","ADAMTS2","AEBP1","AIP","ANKRD26","ARMC5","ATP7A","ATP7B","ATRX","B3GALT6","BCOR","BGN","BLOC1S3","BLOC1S5","BRAF","C1R","C1S","CASP10","CDH23","CHST14","CLCN7","COL1A1","COL1A2","COL3A1","COL5A1","COL5A2","CREB3L1","DSE","DTNBP1","ELN","EMILIN1","ENPP1","ETV6","F10","F13A1","F13B","F2","F5","F7","F8","FANCA","FANCC","FANCD2","FANCE","FAS","FASLG","FBN1","FCGR2C","FGA","FGB","FGG","FIP1L1","FKBP10","FKBP14","FLNA","FOXE3","FUCA1","GATA1","GATA2","GBA1","GFI1B","GGCX","GNAS","GP1BA","GP1BB","GP6","GP9","GSN","HBA1","HBA2","HEY2","HPS1","HPS3","HPS4","HPS5","HPS6","IPO8","IRF2BP2","ITGA2B","ITGB3","JAK2","KRAS","LMAN1","LOX","LYST","MAP2K1","MAPK1","MAT2A","MCFD2","MFAP5","MPL","MTAP","MYH11","MYH9","MYLK","NABP1","NBEAL2","NFIX","NPM1","NR3C1","NTRK1","NUMA1","P2RY12","PDE11A","PLAU","PLEC","PLOD1","PLOD3","PML","PRDM5","PRF1","PRKACA","PRKAR1A","PRKCD","PRKG1","PTPN11","PYCR1","RARA","RASGRP1","RASGRP2","RIN2","RUNX1","SCARB2","SERPINF2","SIK3","SLC2A10","SLC37A4","SLC39A13","SLC51A","SLFN14","SMAD2","SMAD3","SMAD4","SNX10","SOS1","SPRED2","STAT3","STAT5B","STIM1","STX11","STXBP2","TBL1XR1","TBXA2R","TCIRG1","TET2","TGFB2","TGFB3","TGFBR1","TGFBR2","THSD4","TNFRSF1A","TNFSF11","TNXB","TP53","UNC13D","USP48","USP8","VWF","WAS","WIPF1","ZBTB16","ZNF469"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PURPURA":{"collection":"C5:HPO","systematicName":"M35057","pmid":"","exactSource":"HP:0000979","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000979","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PURPURA","geneSymbols":["ACP5","ADA2","AIP","APOE","ARL6IP6","ARVCF","ATRX","BCOR","BRAF","C2","C4A","CALR","CASP10","CD109","CD19","CD81","CDH23","CFH","CFHR1","CFHR3","CHST14","CLCN7","COL1A1","COL3A1","COL5A1","COL5A2","COMT","CR2","CTLA4","DCLRE1B","DPP9","ETHE1","ETV6","F13A1","F13B","F2","F8","FCGR2C","FERMT3","FIP1L1","FUCA1","FYB1","GATA1","GBA1","GFI1B","GGCX","GIMAP5","GNA11","GNA14","GP1BA","GP1BB","GP6","GP9","HCK","HIRA","HLA-DPA1","HLA-DPB1","HOXA11","HPS1","HPS6","ICOS","IFNG","IRF2BP2","ITGA2","ITGA2B","ITGB3","JAK2","JMJD1C","LCP2","MPL","MS4A1","MVK","MYD88","NABP1","NAGA","NEU1","NFKB1","NFKB2","NLRP3","NPM1","NR3C1","NUMA1","OCLN","ORAI1","P2RY12","PEPD","PML","PRF1","PRKAR1A","PRKCD","PROC","PROS1","PRTN3","PTPN22","RAB27A","RARA","RREB1","SAMD9","SBDS","SEC24C","SH2B3","STAT3","STAT5B","STIM1","STX11","STXBP2","TBL1XR1","TBX1","TBXA2R","TERC","TERT","TET2","TFR2","TNFRSF13B","TNFRSF13C","TNFSF12","TP53","TREX1","UFD1","UNC13D","USP18","USP48","USP8","VWF","WAS","WIPF1","ZBTB16"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PALLOR":{"collection":"C5:HPO","systematicName":"M35058","pmid":"","exactSource":"HP:0000980","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000980","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PALLOR","geneSymbols":["ABCC8","ACAT1","ADA2","AGBL5","AIP","ALAS2","ALS2","AMN","ANK1","ASXL1","ATP1A2","ATP1A3","BMPR1A","CACNA1A","CACNA1H","CALR","CASK","CCND1","CDH23","CDIN1","CLCN7","COL12A1","CUBN","DEPDC5","DHFR","DLST","DNMT3A","ENG","EPAS1","EPB41","EPB42","FANCA","FANCC","FANCD2","FANCE","FANCI","FBP1","FH","G6PD","GABRA1","GABRB3","GABRG2","GATA1","GATA2","HBA1","HBA2","HBB","HBG1","HBG2","HEATR3","HEXA","HMGCL","HNF1A","HNF4A","IKBKG","JAK2","JRK","KCNJ11","KCNQ2","KIF1B","KIF23","KIT","KLF1","LRAT","MAX","MDH2","MEN1","MMADHC","MPL","MSTO1","MT-CYB","MYD88","NF1","NPRL2","NPRL3","OPA1","PCDH19","PIEZO1","PKLR","POMGNT1","PTS","PUS1","RACGAP1","RAG1","RAG2","RAX2","RET","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS7","SCN1A","SCN1B","SCN2A","SCN9A","SDHA","SDHAF2","SDHB","SDHC","SDHD","SF3B1","SH2B3","SLC19A2","SLC1A3","SLC25A11","SLC2A1","SLC46A1","SLC4A1","SMAD4","SNX10","SPTA1","SPTB","SRSF2","STEAP3","TCIRG1","TET2","TMEM126A","TMEM127","TMPRSS6","TNFSF11","TRNT1","TSR2","TTC8","UCP2","VHL","WDR19","YARS2","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SKIN_RASH":{"collection":"C5:HPO","systematicName":"M35060","pmid":"","exactSource":"HP:0000988","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000988","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SKIN_RASH","geneSymbols":["ABCB11","ABCB4","ABCC6","ACP5","ADA","ADA2","AK2","ANK1","APOA1","ARHGEF2","ARPC1B","ASXL1","ATP8B1","B2M","BANK1","BLK","BLM","BLNK","BTD","BTK","BTNL2","C1QB","C1QC","C4A","C4B","CASP10","CBL","CD28","CD79A","CD79B","CDK10","CIC","CIITA","CLEC7A","CLTRN","COX4I2","CR2","CTLA4","CYBA","CYBB","DCLRE1C","DNAJC21","DNASE1","DNASE1L3","EFL1","ELF4","ENPP1","EPB42","ERCC2","ERCC3","ERCC4","ERCC5","ETS1","FCGR2A","FCGR2B","FCGR3B","FGA","GJA1","GJB3","GJB4","HLA-DPA1","HLA-DPB1","HLA-DRB1","HLCS","IFIH1","IFNG","IGHG1","IGHG2","IGHM","IGKC","IGLL1","IKBKG","IL10","IL17F","IL17RA","IL17RC","IL1RN","IL2RG","IL6","IL6ST","IRAK1","IRF5","ITGAM","JAK3","JAZF1","KDSR","KIAA0319L","KIT","LACC1","LBR","LCP2","LEMD3","LMBRD1","LPIN2","LRRC8A","LYST","LYZ","MALT1","MECP2","MEFV","MIF","MVK","NAXD","NCF1","NCF2","NLRC4","NLRP12","NLRP3","NOD2","NR1H4","OTULIN","PDCD1","PDGFRA","PIK3R1","POMP","PRF1","PRTN3","PSMB10","PSMB4","PSMB9","PTPN22","PTPRC","PXK","RAG1","RAG2","RELB","RFX5","RFXANK","RFXAP","RIPK1","RUNX1","SAT1","SBDS","SDHA","SDHB","SDHC","SLC39A7","SLC4A1","SLC6A19","SMARCAD1","SPI1","SPINK5","SPP1","SPTA1","SPTB","SRP54","SRSF2","STAT3","STAT4","STING1","STX11","STXBP2","SYK","TCF3","TEK","TET2","TLR7","TNFAIP3","TNFRSF1A","TNFRSF1B","TNFSF4","TNIP1","TOP3A","TRAF3IP2","TREX1","UBE2L3","UNC13D","USB1","ZAP70","ZNFX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PRURITUS":{"collection":"C5:HPO","systematicName":"M35061","pmid":"","exactSource":"HP:0000989","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000989","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PRURITUS","geneSymbols":["ABCA12","ABCB11","ABCB4","ABCC6","ADA","ALOX12B","ALOXE3","AQP5","ASPRV1","ASXL1","ATP2A2","ATP7B","ATP8B1","BRCA1","BRCA2","CARD14","CAST","CBL","CCDC47","CD28","CDSN","CERS3","CFTR","CHD7","CHST8","CLDN1","CLEC7A","COL7A1","CST6","CTLA4","CTNNB1","CYP4F22","DCDC2","DCLRE1C","DNASE1L3","DSG4","DSP","ENPP1","EPAS1","EPOR","FDPS","FECH","FH","FLG2","FLI1","GATA1","GPNMB","GPR35","GSN","HLA-DRA","HSD3B7","IL12A","IL12RB1","IL17F","IL17RA","IL17RC","IL2RG","IL31RA","IL6ST","IL7R","IRF5","JAK2","KIF12","KIT","KRT10","KRT14","KRT5","KRT74","LBR","LDHA","LIG4","LIPA","LIPN","LRP1","MC1R","MED12","MIA3","MMEL1","MPL","MST1","MVD","MVK","MYO5B","NIPAL4","NLRP3","NR1H4","NRAS","OSMR","PDGFRA","PEPD","PERP","PKHD1","PKP1","PLCG2","PLEC","PMVK","PNPLA1","POFUT1","POGLUT1","POU2AF1","PSENEN","PTPN3","RAG1","RAG2","RMRP","RUNX1","SCN10A","SCN11A","SCN9A","SDR9C7","SEMA4D","SEMA7A","SLC17A9","SLC27A4","SLCO1B1","SLCO1B3","SPIB","SRSF2","ST14","STAT3","STX3","SULT2B1","TCF4","TET2","TGM1","THPO","TJP2","TNFRSF1B","TNFSF15","TNPO3","TRAF3IP2","TRPM4","TRPV3","UNC45A","UROD","UROS","USP53","VIPAS39","VPS33B","XPNPEP2","ZFYVE19","ZNF341"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_XANTHOMATOSIS":{"collection":"C5:HPO","systematicName":"M35062","pmid":"","exactSource":"HP:0000991","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000991","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_XANTHOMATOSIS","geneSymbols":["ABCA1","ABCG5","ABCG8","APOA1","APOA2","APOA5","APOB","APOC2","APOE","CETP","CYP27A1","EPHX2","FGFR1","G6PC1","GHR","GPIHBP1","KRAS","LDLR","LDLRAP1","LIPC","LMF1","LMNA","LPL","PCSK9","PDGFRB","PPARG","PPP1R17","SLC37A4","SMPD1","SPRED1","TTPA"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CUTANEOUS_PHOTOSENSITIVITY":{"collection":"C5:HPO","systematicName":"M35063","pmid":"","exactSource":"HP:0000992","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000992","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CUTANEOUS_PHOTOSENSITIVITY","geneSymbols":["AARS1","ABCB6","ALAS2","BANK1","BLK","BLM","C4A","C4B","CARMIL2","CARS1","CLPX","CLTRN","COL7A1","CPOX","CR2","CSTB","CTLA4","CYBA","CYBB","CYBC1","DDB2","DDX6","DHCR7","DNASE1","EPM2A","ERCC1","ERCC2","ERCC3","ERCC4","ERCC5","ERCC6","ERCC6L2","ERCC8","ETS1","FCGR2A","FCGR2B","FCGR3B","FDFT1","FDPS","FECH","FERMT1","GATA1","GJA1","GJB3","GJB4","GPNMB","GTF2E2","GTF2H5","HERC2","HLA-DRB1","IFIH1","IGHG1","IL10","IRAK1","IRF5","ITGAM","JAZF1","KCTD1","KDSR","KIAA0319L","KRT1","KRT10","KRT14","KRT5","LIG4","LYST","MAGEL2","MECP2","MKRN3","MPLKIP","MVD","MVK","NBN","NCF1","NCF2","NCF4","NHLRC1","NPAP1","NSUN2","PCNA","PDCD1","PEPD","PMVK","POLH","PPOX","PRICKLE1","PTPN22","PWAR1","PWRN1","PXK","RECQL","RECQL4","RNF113A","RORB","SAMHD1","SCARB2","SLC17A9","SLC6A19","SNORD115-1","SNORD116-1","SPP1","STAT4","SYNGAP1","TARS1","TLR7","TNFAIP3","TNFSF4","TNIP1","TP63","TREX1","UBE2L3","UROD","UROS","UVSSA","XPA","XPC","XRCC4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MOLLUSCOID_PSEUDOTUMORS":{"collection":"C5:HPO","systematicName":"M35064","pmid":"","exactSource":"HP:0000993","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000993","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MOLLUSCOID_PSEUDOTUMORS","geneSymbols":["COL1A1","COL3A1","COL5A1","COL5A2","PLOD1","ZNF469"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MELANOCYTIC_NEVUS":{"collection":"C5:HPO","systematicName":"M35065","pmid":"","exactSource":"HP:0000995","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000995","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MELANOCYTIC_NEVUS","geneSymbols":["AKT1","BLOC1S5","BRAF","CBL","CDH3","CHRNA7","COL3A1","DDB2","EED","ERCC2","ERCC3","ERCC4","ERCC5","ERF","EZH2","FBN1","FGFR2","FGFR3","FKBP10","HPS1","HRAS","IGF2","KLLN","KRAS","LZTR1","MC1R","MPL","MRAS","NFIX","NRAS","OCA2","PCGF2","PDE4D","PIK3CA","PRKAR1A","PTCH1","PTCH2","PTEN","PTPN11","RAF1","RASA2","RBM28","RIT1","RRAS","RRAS2","SDHB","SDHC","SDHD","SEC23B","SOS1","SOS2","SPRED2","SPTBN1","SUFU","SUZ12","THPO","TNFRSF11A","TNFRSF11B","TP63","TYR","USF3","XPA","XPC"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FACIAL_CAPILLARY_HEMANGIOMA":{"collection":"C5:HPO","systematicName":"M35066","pmid":"","exactSource":"HP:0000996","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000996","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FACIAL_CAPILLARY_HEMANGIOMA","geneSymbols":["CD96","DHCR7","EPHB4","ESCO2","GLI3","MGAT2","POR","RASA1","RBM8A","RECQL4","TRPM3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPERTRICHOSIS":{"collection":"C5:HPO","systematicName":"M35068","pmid":"","exactSource":"HP:0000998","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000998","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERTRICHOSIS","geneSymbols":["ABCA5","ABCC9","ADAMTS3","ADAT3","AFF3","AFF4","AGPAT2","AIP","ALG9","AMMECR1","ANKRD11","ARID1A","ARID1B","ARID2","ARL3","ARX","ASH1L","ASXL1","ASXL2","ASXL3","ATP6V1B2","B3GLCT","BAP1","BCAS3","BGN","BICRA","BLM","BMP2","BPTF","BRD4","BSCL2","CAV1","CAVIN1","CCDC47","CDC42","CDC42BPB","CDH11","CDH2","CDK10","CDKL5","CDKN2A","CDON","CERT1","CHD5","CHMP1A","CHRNA7","CHSY1","CKAP2L","CLCN3","CLP1","COG7","COX5A","CREBBP","CSNK2A1","CTCF","CTNNB1","CTSC","CUL4B","CWF19L1","DDB1","DEAF1","DHX30","DOCK7","DPAGT1","DPF2","EBF3","EDN3","EDNRB","EHMT1","EMC10","EP300","ERLIN2","FBXO28","FBXO31","FGF3","FGFR1","FHL1","FLII","FOS","FRA10AC1","FREM1","GABRA3","GATA1","GJA5","GJA8","GJB4","GLB1","GNA14","GNB2","GNE","GNS","GPC3","GPC4","GPR101","HDAC8","HEATR3","HECTD4","HGSNAT","HID1","HIVEP2","HMGA2","HNRNPU","HSPA9","IDS","IGF1R","IL1RAPL1","IL6ST","INSR","IQSEC2","JARID2","KATNB1","KCNH1","KCNK4","KCNMA1","KCNN3","KDM1A","KDM4B","KIAA0753","KIF26A","KIFBP","KIT","KLF13","KMT2A","KNL1","KNSTRN","KRT10","LEMD3","LTBP3","MAB21L1","MAN2B1","MAP1B","MAPK1","MAPK8IP3","MAPRE2","MASP1","MBD5","MED13","MED27","MITF","MT-CO1","MT-CO2","MT-CO3","MT-ND1","MT-ND4","MT-ND5","MT-ND6","MT-TF","MT-TH","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TW","NAGLU","NANS","NDST1","NDUFA12","NECTIN1","NEU1","NFIX","NIPBL","NMNAT1","NOTCH2","NSUN2","NUDT2","NUS1","OGT","PACS1","PACS2","PAX3","PCDHGC4","PGM2L1","PHF8","PHIP","PIGN","PIGU","PIK3CD","POLR3A","PPARG","PPOX","PPP1R15B","PRKAR1A","PRKG2","PRR12","PSMB8","PSMC3","PSMD12","PTCH1","PUF60","RAB18","RAB3GAP1","RAC1","RAD21","RAI1","RNF125","RPS23","RUSC2","SCN4A","SETBP1","SETD5","SGSH","SLC1A4","SLC25A24","SLC29A3","SMARCA2","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SMC1A","SMC3","SMCHD1","SMPD4","SMS","SNAI2","SNX14","SOX10","SOX11","SOX4","SPATA5","SPEN","SPOP","SPTBN1","SRCAP","SRD5A3","STAG1","SUZ12","TAF1","TAF6","TALDO1","TASP1","TBCD","TBCK","TERT","TFE3","TLK2","TMCO1","TMEM147","TMEM94","TOE1","TP53","TRAIP","TRAPPC10","TRAPPC9","TRIM8","TRIO","TRMT1","TRMT10A","TTI2","TUBGCP2","TWIST2","UBE2A","UBR7","UFC1","UGDH","UGP2","UQCC2","UROD","UROS","USP9X","VPS33A","VPS37A","WAC","WARS1","WBP11","WNT4","XYLT1","ZBTB20","ZIC2","ZMYND11","ZNF292","ZNF407","ZNF699","ZNF711","ZNRF3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PYODERMA":{"collection":"C5:HPO","systematicName":"M41227","pmid":"","exactSource":"HP:0000999","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0000999","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PYODERMA","geneSymbols":["BTK","IL10RA","LAMA3","LAMB3","LAMC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_SKIN_PIGMENTATION":{"collection":"C5:HPO","systematicName":"M35069","pmid":"","exactSource":"HP:0001000","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001000","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_SKIN_PIGMENTATION","geneSymbols":["AAAS","AARS1","ABCB6","ABCC9","ABCD1","ACD","ACP5","ACTB","ADAR","ADH5","AIP","AIRE","AKT1","ALAS2","ALDH3A2","ALG3","ANAPC1","ANKLE2","ANTXR1","ANTXR2","AP3B1","AP3D1","APC","APC2","APOE","ARL6IP6","ARVCF","ATM","ATP10A","ATP2A2","ATP6V1B2","ATP7A","ATRX","B4GALT7","BANF1","BAP1","BLM","BLOC1S3","BLOC1S5","BLOC1S6","BMP2","BMP6","BRAF","BRCA1","BRCA2","BRIP1","BTK","BTNL2","BUB1","BUB1B","BUB3","C1R","C1S","CACNA1F","CARD14","CARS1","CASR","CAT","CAV1","CBL","CBS","CCN2","CCR6","CD28","CDH23","CDH3","CDK4","CDKN1A","CDKN1B","CDKN1C","CDKN2A","CDKN2B","CDKN2C","CEP57","CHN1","CHRNA7","CIB1","CLCN7","CLTRN","COL17A1","COL25A1","COL3A1","COL7A1","COMT","COPB1","COX7B","CPOX","CREBBP","CRIPT","CSTA","CTC1","CTLA4","CTNNBL1","CTNS","CTSC","CWC27","CXCR4","CYBA","CYBB","CYBC1","CYP11A1","CYP11B1","DCLRE1C","DCPS","DCT","DDB2","DDX11","DDX3X","DHX30","DKC1","DNAJC21","DNASE1L3","DPP9","DST","DSTYK","DTNBP1","DUOX2","EBP","EDA","EDAR","EDARADD","EDN3","EDNRB","EED","EMC1","EP300","EPG5","ERCC1","ERCC2","ERCC3","ERCC4","ERCC5","ERCC6","ERCC8","ERF","ESCO2","EZH2","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FAS","FBN1","FERMT1","FGFR1","FGFR2","FGFR3","FKBP10","FLNA","FOXD3","GALC","GATA1","GBA1","GJA1","GJB3","GJB4","GJB6","GMPPA","GNA11","GNAQ","GNAS","GNB2","GNPTAB","GP1BB","GPNMB","GPR101","GPR143","GTF2E2","GTF2H5","H4C5","HAMP","HBB","HCCS","HEPACAM","HERC2","HFE","HGD","HIRA","HJV","HLA-DRB1","HMGA2","HPGD","HPS1","HPS3","HPS4","HPS5","HPS6","HRAS","HSD3B2","IDUA","IFNG","IGF1","IGF2","IKBKG","IL12A","IL12RB1","IL6","IL7","INSR","IRF4","IRF5","ITGB4","JAK3","JMJD1C","KANSL1","KAT6A","KCNH1","KCNMA1","KCNN3","KDF1","KDM5C","KDM6A","KDM6B","KDSR","KIAA0319L","KIF15","KIT","KITLG","KLHL24","KLLN","KMT2D","KNSTRN","KRAS","KRT14","KRT5","LAMA3","LAMB3","LAMC2","LAMTOR2","LBR","LEMD3","LIFR","LIG4","LIPE","LMNA","LRBA","LRMDA","LTV1","LYST","LZTR1","MAD2L2","MAFB","MAGEL2","MAN1B1","MAP2K1","MAP2K2","MAPK1","MAPRE2","MAX","MC1R","MC2R","MCM4","MED12","MEN1","MGMT","MITF","MKRN3","MLH1","MLPH","MMEL1","MMP2","MPL","MPLKIP","MRAP","MRAS","MSH2","MSH6","MT-CO1","MT-CO2","MT-CO3","MT-ND1","MT-ND4","MT-ND5","MT-ND6","MT-TF","MT-TH","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TW","MTOR","MYO5A","NBN","NCF1","NCF2","NCF4","NDN","NDUFB11","NF1","NF2","NFIX","NFKB2","NHP2","NLRP1","NNT","NOD2","NOP10","NOTCH3","NPAP1","NPM1","NR0B1","NR3C1","NRAS","NSD1","NSUN2","OCA2","OCRL","PAH","PALB2","PANK2","PARN","PAX3","PAX6","PCGF2","PCNT","PCSK1","PDE11A","PDE4D","PDGFRA","PDGFRB","PHIP","PIDD1","PIGA","PIGN","PIK3CA","PIK3CD","PLAG1","PLCG2","PLEC","PLXND1","PMS2","POFUT1","POGLUT1","POGZ","POLA1","POLE","POLH","POMC","PORCN","POT1","POU2AF1","PPOX","PPP1CB","PRKAR1A","PROC","PROS1","PSAP","PSENEN","PSMB8","PTCH1","PTCH2","PTEN","PTPN11","PTPN22","PWAR1","PWRN1","RAB27A","RAD51","RAD51C","RAF1","RASA2","RBBP8","RBM28","RECQL4","RERE","RET","REV3L","RFWD3","RFX7","RIT1","RNF113A","RPA1","RPS27","RRAS","RRAS2","RREB1","RTEL1","SALL4","SASH1","SDHA","SDHB","SDHC","SDHD","SEC23A","SEC23B","SEC24C","SET","SETBP1","SETD2","SGPL1","SH3PXD2B","SHOC2","SIM1","SKIC2","SKIC3","SLC17A5","SLC24A5","SLC27A4","SLC29A3","SLC35A2","SLC40A1","SLC45A2","SLC6A19","SLC9A1","SLCO1B1","SLCO1B3","SLF2","SLX4","SMARCA2","SMARCAD1","SMARCAL1","SMG8","SMO","SMS","SNAI2","SNORD115-1","SNORD116-1","SNRPN","SOS1","SOS2","SOX10","SOX18","SPIB","SPINK5","SPRED1","SPRED2","SPTBN1","SRD5A3","ST3GAL5","STAR","STEAP3","STK11","SUFU","SUZ12","SVBP","TARS1","TBX1","TCF4","TERC","TERF2IP","TERT","TFE3","TFR2","TGM5","THPO","TINF2","TMC6","TMC8","TMEM127","TNFRSF11A","TNFRSF11B","TNFRSF1A","TNFRSF1B","TNFSF15","TNPO3","TOE1","TOP3A","TP53","TP53RK","TP63","TRAC","TRAF6","TRAPPC11","TRIP13","TRPM1","TSC1","TSC2","TUBB","TUBGCP6","TWIST2","TXNRD2","TYMS","TYR","TYRP1","UBE2A","UBE2T","UBE3A","UBR1","UFD1","UROD","UROS","USB1","USF3","USP48","USP8","USP9X","UVSSA","VHL","VPS13B","WASF1","WBP11","WDR11","WDR45","WDR73","WRAP53","XPA","XPC","XRCC2","ZFHX4","ZMPSTE24","ZNF699","ZPR1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_SUBCUTANEOUS_FAT_TISSUE":{"collection":"C5:HPO","systematicName":"M35070","pmid":"","exactSource":"HP:0001001","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001001","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_SUBCUTANEOUS_FAT_TISSUE","geneSymbols":["ADAMTS2","ADAMTSL2","AGPAT2","AKT1","ALG8","ALMS1","ARMC5","ATP6V0A2","ATP6V1A","ATP6V1E1","ATRX","BMPR1A","BRAF","BSCL2","CAV1","CDH23","CDKN1B","COL1A1","COL1A2","ERCC6","ERCC8","FBN1","FGFR1","FH","GNAS","GNB2","H4C5","IGF1R","INSR","KCNJ6","KCNK9","LEMD2","LMNA","MEN1","NAA10","NR3C1","PDE11A","PHGDH","PIK3CA","PLIN1","PMM2","POLR3A","PPARG","PPP1R15B","PRKACA","PRKAR1A","PTEN","PTF1A","RBM28","SKI","SLC25A24","SLC2A2","SOX18","TBL1XR1","TGFB1","TGFB3","TOP3A","TP53","TRMT10A","USP48","USP8","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MULTIPLE_LENTIGINES":{"collection":"C5:HPO","systematicName":"M35071","pmid":"","exactSource":"HP:0001003","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001003","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MULTIPLE_LENTIGINES","geneSymbols":["BRAF","DSTYK","KITLG","KRAS","MAP2K1","MAP2K2","MAPK1","NRAS","PDE11A","PRKAR1A","PTPN11","RAF1","SHOC2","SMARCAL1","STK11"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LYMPHEDEMA":{"collection":"C5:HPO","systematicName":"M35072","pmid":"","exactSource":"HP:0001004","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001004","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LYMPHEDEMA","geneSymbols":["ABCC9","ADAMTS3","AKT1","ANGPT2","ANTXR2","BCL2","BCL6","BRAF","CBL","CCBE1","CDC42","CDK5","CELSR1","CTNNB1","DCHS1","DNMT1","EPHB4","FAT4","FLT4","FOXC2","FZD4","GATA2","GJC2","GLA","GUSB","HLA-DRB1","HRAS","IKBKG","INPPL1","KIF11","KIF7","KRAS","LBR","LRP5","LZTR1","MAP2K1","MAP2K2","MAPK1","MDFIC","MRAS","NAA10","NAGA","NDP","NLRP3","NRAS","PIEZO1","PIK3CA","PMM2","PTEN","PTPN11","PTPN14","RAF1","RASA1","RASA2","RELN","RIT1","RRAS","RRAS2","SHANK3","SLC35D1","SOS1","SOS2","SOX18","SPG11","SPRED2","THSD1","TIE1","TSC1","TSC2","TSPAN12","VEGFC","XYLT2","ZNF408"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DERMATOLOGICAL_MANIFESTATIONS_OF_SYSTEMIC_DISORDERS":{"collection":"C5:HPO","systematicName":"M35073","pmid":"","exactSource":"HP:0001005","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001005","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DERMATOLOGICAL_MANIFESTATIONS_OF_SYSTEMIC_DISORDERS","geneSymbols":["ABCA3","ABCB11","ABCB4","ABCC2","ABCC6","ABCD3","ACADVL","ACTC1","ACVRL1","ADAMTS13","ADAMTS19","ADAR","AGRN","AGXT","AK9","AKR1D1","ALDOA","ALDOB","ALG6","AMACR","ANK1","APC2","ARL13B","ARMC5","ATP11C","ATP6AP1","ATP6AP2","ATP7A","ATP7B","ATP8B1","ATRX","BAAT","BRAF","BRCA1","BRCA2","CA5A","CALR","CASK","CASR","CCDC115","CDAN1","CDH23","CDIN1","CDKN2A","CFTR","CHAT","CHRNA1","CHRNB1","CHRND","CHRNE","CITED2","CLDN1","COG7","COL13A1","COL1A1","COL5A1","COL5A2","COX4I2","CPA1","CPOX","CTCF","CTRC","CYB5A","CYB5R3","CYP27A1","CYP7B1","DAXX","DCDC2","DEF6","DGUOK","DHFR","DOK7","DPAGT1","DUOX2","DUOXA2","DZIP1L","EIF2AK3","EIF2AK4","ELP1","ENG","ENPP1","EPB41","EPB42","EPOR","ETFA","ETFB","ETFDH","ETHE1","F5","FCGR3B","FLI1","FOCAD","FUCA1","G6PD","GABRA1","GABRG2","GALE","GALK1","GALM","GALT","GATA4","GATA6","GCLC","GH1","GLRX5","GNAS","GPI","GPR35","GRIK2","GSN","GTPBP3","GYPC","HBA1","HBB","HBG2","HESX1","HK1","HLA-DRB1","HMGCL","HNF1B","HSD17B10","HSD3B7","HTRA2","HYOU1","IARS1","IER3IP1","IFIH1","IL12A","IL12RB1","IL18BP","IL2RG","IRF5","IYD","JAG1","JAK2","KCNN4","KCNQ2","KCNQ3","KIF12","KIF23","KLHL7","KMT2D","KMT2E","KRAS","KRT18","KYNU","LBR","LHX3","LHX4","LIPA","LMNA","LPL","LRP4","LSM11","LYST","MED12","MMACHC","MMEL1","MMP21","MPV17","MST1","MT-CYB","MUSK","MVK","MYH6","MYO5B","MYO9A","NAA10","NBAS","NDUFS4","NKX2-5","NKX2-6","NPC1","NPC2","NR1H4","NR3C1","NSD1","NUP214","OCLN","PALB2","PALLD","PARS2","PAX3","PAX8","PCDH19","PCK1","PEPD","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PFKM","PIEZO1","PIGA","PKD2","PKHD1","PKLR","PLD1","PLXND1","POLG","POLG2","POU1F1","POU2AF1","PRF1","PRKAG2","PRKAR1A","PROC","PROP1","PROS1","PRPS1","PRRT2","PRSS1","PRSS2","PSAT1","PTPN3","PUS3","RAB27A","RABL3","RAPSN","RBM10","RHAG","RHCE","RHD","RINT1","RNASEH2A","RNASEH2B","RNASEH2C","RNU4ATAC","RNU7-1","RPS6KA3","SAMHD1","SCN1A","SCN1B","SCN2A","SCN4A","SCN8A","SCN9A","SEC23B","SEMA4D","SEPTIN9","SERPINA1","SETD2","SFTPB","SFTPC","SH2B3","SKIC3","SLC10A1","SLC16A2","SLC18A3","SLC25A1","SLC25A13","SLC25A20","SLC25A3","SLC26A4","SLC2A1","SLC30A10","SLC34A2","SLC37A4","SLC44A1","SLC4A1","SLC51B","SLC5A5","SLC5A7","SLCO1B1","SLCO1B3","SMAD4","SMPD1","SNAP25","SP110","SPIB","SPINK1","SPOP","SPTA1","SPTB","SPTBN1","STX11","STXBP2","SYT2","TBX19","TBX20","TCF4","TFAM","TG","TLL1","TMEM260","TNFSF15","TNPO3","TP53","TPI1","TPO","TREX1","TRHR","TRMU","TSHB","TSHR","TTC26","TULP3","TXNDC15","UGT1A1","UNC13D","UNC45A","UROS","USP48","USP53","USP8","VAMP1","VHL","VIPAS39","VPS33B","YARS1","ZFYVE19","ZIC3","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HIRSUTISM":{"collection":"C5:HPO","systematicName":"M35074","pmid":"","exactSource":"HP:0001007","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001007","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HIRSUTISM","geneSymbols":["ABCA5","ABCC9","ADAMTS2","ADNP","AFF4","AGPAT2","AIMP2","AIP","AKT1","ALMS1","ARID1A","ARID1B","ARID2","ARL6","ARMC5","ARSB","ARX","ASXL1","ASXL3","ATP6V1B2","ATRX","BBIP1","BBS1","BBS10","BBS12","BBS2","BBS4","BBS5","BBS7","BBS9","BCL11B","BMP1","BMP15","BRAF","BRD4","BSCL2","CACNA1G","CAPN15","CASZ1","CAV1","CAVIN1","CCBE1","CCDC28B","CDH23","CDK5","CEP19","CEP290","CFAP418","CKAP2L","CLN3","CNOT2","CNP","COPB1","CPOX","CREBBP","CTSC","CYP11B1","CYP19A1","DLK1","DPF2","ELMO2","EMC10","EP300","ERCC6","FGFR2","FLNA","FRMD4A","FSHR","FUT8","GABRD","GJA1","GJB3","GJB4","GLB1","GLI3","GNAS","GNB2","GNE","GNS","GPR101","GUSB","H6PD","HDAC8","HGSNAT","HIVEP2","HNRNPR","HSD3B2","HSPG2","IDUA","IFT172","IFT27","IFT74","INSR","IPO8","IRF6","KCNAB2","KCNH1","KCNJ8","KDM6A","KDSR","KMT2A","KMT2D","LMNA","LMNB2","LRPPRC","LUZP1","LZTFL1","MAB21L1","MAP1B","MAP3K1","MAP3K7","MAPK1","MAPRE2","MBD5","MC1R","MEG3","MGAT2","MKKS","MKS1","MMP14","MMP2","MMP23B","MOGS","NAGLU","NANS","NFIX","NIPBL","NKX6-2","NOTCH2","NPHP1","NR3C1","NRAS","OFD1","OTUD5","PAPSS2","PDE11A","PDPN","PEPD","PLAA","POLR3A","POR","PPARG","PPP1R21","PRDM16","PRKACA","PRKAR1A","PRKCZ","PRKG2","PRMT7","PTEN","RAB18","RAB3GAP1","RAB3GAP2","RAD21","RECQL","RERE","RIN2","RPL10","RTL1","SCAPER","SCLT1","SDCCAG8","SETBP1","SETD2","SGSH","SHROOM4","SKI","SLC25A12","SLC25A24","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCD2","SMARCE1","SMC1A","SMC3","SMO","SOX11","SOX4","SOX6","SPEN","SRCAP","SUCLA2","TAF1","TAF6","TASP1","TBC1D20","TBCD","TBCK","TBX15","TOE1","TP53","TP63","TRIM32","TRIO","TTC5","TTC8","TUBB","TWIST1","TWIST2","UBE2A","UBE4B","UFC1","USP48","USP8","VPS33A","WAC","WASHC4","WDPCP","WDR81","WNT4","XYLT1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_TELANGIECTASIA":{"collection":"C5:HPO","systematicName":"M35075","pmid":"","exactSource":"HP:0001009","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001009","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TELANGIECTASIA","geneSymbols":["ABCC6","ACTA2","ACVRL1","AKT1","ANAPC1","ANTXR2","ARL6IP6","ARPC4","ARX","ATM","ATR","ATRX","BLM","BMP2","BMPR2","CAST","CASZ1","CAV1","CCM2","CCN2","CCR6","CIB1","COL3A1","COL7A1","CTC1","CTNNB1","CTSA","CYLD","DAXX","DDB2","DIAPH1","DKC1","DNAJC30","DPM1","ELMO2","ENG","ENPP1","EPHB4","ERCC2","ERCC3","ERCC4","ERCC5","ERCC6","FERMT1","FRG1","FZD4","GABRD","GDF2","GLA","GNA11","GNAQ","GNPTAB","GPR35","HFE","HLA-DRB1","HSPG2","IARS2","IKBKG","IL7","IRF5","KCNAB2","KIAA0319L","KIT","KLLN","LBR","LIG1","LIG4","LMNA","LMX1B","LRP5","LUZP1","MASP1","MMP23B","MRE11","MST1","MT-ATP6","MT-CO1","MT-CO3","MT-CYB","MT-ND1","MT-ND2","MT-ND4","MT-ND4L","MT-ND5","MT-ND6","NAGA","NBN","NDP","NDUFS2","NEU1","NF1","NHP2","NOP10","NPM1","PARN","PCNA","PDPN","PEPD","PEX6","PGAP2","PGAP3","PIGL","PIGO","PIGV","PIGW","PIGY","PIK3CA","PNKP","POLD1","POLE","POLH","PORCN","PRDM16","PRKCZ","PTEN","RASA1","RECQL4","RERE","RNF168","RNF213","RTEL1","SASH1","SDHB","SDHC","SDHD","SEC23B","SEMA4D","SETD2","SETX","SKI","SLC29A3","SLC2A10","SLC37A4","SMAD4","SOX18","SPEN","STING1","STN1","STXBP1","TALDO1","TCF4","TERC","TERT","TINF2","TMC6","TMC8","TREX1","TSPAN12","TYMS","UBE4B","USB1","USF3","UVSSA","VPS53","WNT10A","WRAP53","WRN","XPA","XPC","XRCC4","ZNF408"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPOPIGMENTATION_OF_THE_SKIN":{"collection":"C5:HPO","systematicName":"M35076","pmid":"","exactSource":"HP:0001010","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001010","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPIGMENTATION_OF_THE_SKIN","geneSymbols":["ABCB6","ABCC9","ACP5","ADAR","AIRE","AKT1","ALG3","ANAPC1","ANTXR1","AP3B1","AP3D1","APC2","APOE","ARVCF","ATP10A","ATP7A","BLM","BLOC1S3","BLOC1S5","BLOC1S6","BRCA1","BRCA2","BRIP1","BTK","BTNL2","CACNA1F","CAV1","CBS","CCN2","CCR6","CD28","CHN1","CIB1","CLCN7","CLTRN","COL25A1","COMT","COX7B","CRIPT","CTC1","CTLA4","CTNS","CTSC","DCPS","DCT","DDB2","DKC1","DNAJC21","DPP9","DTNBP1","EBP","EDN3","EDNRB","EPG5","ERCC2","ERCC3","ERCC4","ERCC5","ERF","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FAS","FERMT1","FGFR2","FGFR3","GALC","GATA1","GNPTAB","GP1BB","HCCS","HERC2","HIRA","HLA-DRB1","HPS1","HPS3","HPS4","HPS5","HPS6","HRAS","IFNG","IKBKG","IL7","IRF5","JMJD1C","KANSL1","KIAA0319L","KIT","KITLG","KLHL24","KLLN","KRAS","KRT14","KRT5","LAMTOR2","LIPE","LMNA","LRMDA","LYST","MAD2L2","MAFB","MAGEL2","MC1R","MITF","MKRN3","MLH1","MLPH","MTOR","MYO5A","NDN","NDUFB11","NHP2","NOP10","NPAP1","NPM1","NRAS","NSD1","OCA2","OCRL","PAH","PALB2","PARN","PAX3","PCNT","PCSK1","PIGN","PIK3CA","POFUT1","POGLUT1","POLH","POMC","PORCN","PPOX","PSAP","PSENEN","PTEN","PTPN22","PWAR1","PWRN1","RAB27A","RAD51","RAD51C","RECQL4","RFWD3","RREB1","RTEL1","SALL4","SASH1","SDHB","SDHC","SDHD","SEC23B","SEC24C","SETD2","SIM1","SKIC2","SKIC3","SLC17A5","SLC24A5","SLC35A2","SLC45A2","SLC6A19","SLX4","SMO","SMS","SNAI2","SNORD115-1","SNORD116-1","SNRPN","SOX10","SPTBN1","TBX1","TCF4","TERC","TERT","TFE3","TINF2","TMC6","TMC8","TNFRSF1B","TOE1","TP63","TSC1","TSC2","TWIST2","TYMS","TYR","TYRP1","UBE2A","UBE2T","UBE3A","UFD1","UROD","UROS","USB1","USF3","WDR11","WDR45","WDR73","WRAP53","XPA","XPC","XRCC2","ZFHX4","ZNF699","ZPR1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MULTIPLE_LIPOMAS":{"collection":"C5:HPO","systematicName":"M35077","pmid":"","exactSource":"HP:0001012","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001012","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MULTIPLE_LIPOMAS","geneSymbols":["ABCC6","AKT1","ALX1","ALX3","AP2S1","APC","BMPR1A","CCL2","CDKN1A","CDKN1B","CDKN2B","CDKN2C","ENPP1","FGFR1","FLCN","FUZ","GNA11","HEPACAM","KCTD1","KRAS","LEMD3","MEN1","MFN2","MSTO1","MT-ND5","MT-RNR1","MT-TF","MT-TH","MT-TK","MT-TL1","MT-TP","MT-TQ","MT-TS1","MT-TS2","PIK3CA","PTEN","SPRED1","TBXT","VANGL1","VANGL2","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ANGIOKERATOMA":{"collection":"C5:HPO","systematicName":"M35078","pmid":"","exactSource":"HP:0001014","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001014","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANGIOKERATOMA","geneSymbols":["AGA","FUCA1","GLA","GLB1","MANBA","NAGA"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ANEMIC_PALLOR":{"collection":"C5:HPO","systematicName":"M35079","pmid":"","exactSource":"HP:0001017","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001017","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANEMIC_PALLOR","geneSymbols":["ALAS2","BMPR1A","ENG","FANCA","FANCC","FANCD2","FANCE","SMAD4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_PALMAR_DERMATOGLYPHICS":{"collection":"C5:HPO","systematicName":"M35080","pmid":"","exactSource":"HP:0001018","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001018","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PALMAR_DERMATOGLYPHICS","geneSymbols":["ADAMTSL1","ADNP","AFF3","AIP","ALDH6A1","ANKRD11","APC","ARID1B","ARL3","ASXL1","ASXL2","ASXL3","ATP6V0A2","ATP6V1B2","ATR","AUTS2","B3GLCT","B4GALT7","BCOR","BHLHA9","BICD2","BMP4","BMPR1B","BRAF","BRD4","BRF1","CCBE1","CCNQ","CD96","CDC42BPB","CDK10","CDK19","CEP55","CEP57","CHD7","CHST14","CHST3","CILK1","CKAP2L","CLCN7","COG1","COX14","COX7B","CPLX1","CREBBP","CSGALNACT1","CSNK2A1","CTBP1","CTCF","DDX11","DHX30","DIS3L2","DLK1","DLX4","DOCK6","DOK7","DPAGT1","DPH1","DPH2","DPYD","DSE","EHMT1","EP300","ESCO2","EXT1","EXTL3","EZH2","FBXO28","FGD1","FGF9","FGFR2","FGFR3","FGFRL1","FIG4","FLNA","FOXP1","G6PC3","GATA1","GDF5","GJA5","GJA8","GLE1","GLYCTK","GNB2","GPR101","GRIN1","H3-3A","H4C9","HCCS","HDAC4","HDAC8","HNRNPK","HRAS","IFT122","IFT43","IFT57","IGF1","ITCH","JARID2","KAT6B","KATNB1","KCNH1","KCNK9","KCNMA1","KCNN3","KDM4B","KIF21A","KMT2D","KRAS","LETM1","LIFR","LMX1B","LONP1","LTBP1","LTBP4","MAP1B","MAP2K1","MAP2K2","MAP3K7","MCTP2","MED12","MED25","MEF2C","MEG3","MEGF8","MSL3","MTFMT","MTOR","MTX2","MUSK","MYH3","MYOD1","NAA10","NAA20","NALCN","NBAS","NDUFB11","NECTIN1","NEXMIF","NGLY1","NIPBL","NOG","NSD2","NSDHL","NUP107","NUP188","NUP88","NXN","OTUD5","PACS1","PDHA1","PEPD","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PGM2L1","PIEZO2","PIGS","PKDCC","PLAA","PLOD3","PNPLA6","POLRMT","PORCN","PPP2CA","PPP2R3C","PPP3CA","PRR12","PTPRF","PUF60","RAB11B","RAD21","RAPSN","RBM10","RIN2","RIPK4","RNU4ATAC","ROR2","RPL10","RPS23","RPS6KA3","RTL1","SEPSECS","SET","SETBP1","SHOC2","SLC18A3","SLC25A12","SLC25A24","SLC39A13","SMAD2","SMARCA2","SMARCAD1","SMC1A","SMC3","SMC5","SMOC1","SMPD4","SMS","SPECC1L","SPRED2","SPRTN","SPTBN1","STAG1","STXBP1","TAF6","TASP1","TBL1XR1","TBX4","TCF12","TCF4","TELO2","TFAP2A","TGDS","THOC2","TMEM147","TNNI2","TNNT3","TOE1","TPM2","TRIM37","TRIM8","TRIO","TRPS1","TSEN15","TSEN2","TSEN34","TSEN54","TUBA1A","TWIST1","TYMS","UBE3B","UBR1","UBR7","UFC1","VAC14","VPS13B","VPS33A","VPS51","WAC","WDR37","XYLT1","YY1","ZMYM2","ZNF292","ZNF462"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ERYTHRODERMA":{"collection":"C5:HPO","systematicName":"M35081","pmid":"","exactSource":"HP:0001019","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001019","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ERYTHRODERMA","geneSymbols":["AARS1","ABCA12","ADA","ADAM17","ALOX12B","ALOXE3","AP1B1","AP1S3","ASPRV1","CARD14","CARS1","CD247","CD28","CD3D","CD3E","CDSN","CERS3","CHD7","CTLA4","CYP4F22","DCLRE1C","DIP2B","DSG1","EBP","ELOVL4","ERCC2","ERCC3","EXTL3","FOXP3","GJB2","GJB3","GTF2E2","GTF2H5","IL2RA","IL2RG","IL36RN","IL7R","KIT","KRT1","KRT10","LIG4","LIPN","LSS","MBTPS2","MPDU1","MPLKIP","NIPAL4","PNPLA1","PRF1","RAG1","RAG2","RBCK1","RMRP","RNF113A","SDR9C7","SLC27A4","SPINK5","STX11","STXBP2","SULT2B1","TARS1","TGM1","TNFRSF1B","TOM1","UNC13D"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ALBINISM":{"collection":"C5:HPO","systematicName":"M35082","pmid":"","exactSource":"HP:0001022","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001022","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ALBINISM","geneSymbols":["AP3B1","AP3D1","BLOC1S3","BLOC1S5","CACNA1F","DTNBP1","EDNRB","EPG5","HPS1","HPS3","HPS4","HPS5","HPS6","LRMDA","MC1R","MITF","OCA2","SLC45A2","TYR","TYRP1","WDR45"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_URTICARIA":{"collection":"C5:HPO","systematicName":"M35083","pmid":"","exactSource":"HP:0001025","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001025","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_URTICARIA","geneSymbols":["ADGRE2","ALDH3A2","ALPK1","ANTXR2","ASXL1","CARMIL2","CASP10","CBL","CBS","CPN1","ELOVL4","ERCC2","ERCC3","ERCC4","ERCC5","FAS","FASLG","FOXP3","GNB2","HLA-DQB1","HLA-DRB1","IFIH1","IL12A","IL12RB1","IRF5","KIT","MBTPS2","MMEL1","MVK","MYD88","NLRC4","NLRP12","NLRP3","PLCG2","POU2AF1","PRKCD","RAC2","RASGRP1","RUNX1","SDHB","SDHC","SERPING1","SF3B4","SLC27A4","SPIB","SPINK5","SRSF2","SUPT16H","TET2","TNFSF15","TNPO3","WAS","WIPF1","XPNPEP2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PENETRATING_FOOT_ULCERS":{"collection":"C5:HPO","systematicName":"M43259","pmid":"","exactSource":"HP:0001026","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001026","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PENETRATING_FOOT_ULCERS","geneSymbols":["ATL1","ATL3","F12","SBF2","SPTLC1","SPTLC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SOFT_DOUGHY_SKIN":{"collection":"C5:HPO","systematicName":"M35084","pmid":"","exactSource":"HP:0001027","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001027","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SOFT_DOUGHY_SKIN","geneSymbols":["ADAMTS2","B3GALT6","COL1A1","COL1A2","COL5A1","COL5A2","IARS1","INPPL1","MGP","MICU1","SLC2A10","SON","XYLT1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_POIKILODERMA":{"collection":"C5:HPO","systematicName":"M35085","pmid":"","exactSource":"HP:0001029","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001029","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POIKILODERMA","geneSymbols":["ANAPC1","BLM","CD28","COL7A1","CTLA4","DDB2","ERCC2","ERCC3","ERCC4","ERCC5","ERCC6","FAM111B","FERMT1","IARS2","LMNA","LTV1","MTX2","POLH","RECQL4","RNU7-1","TNFRSF1B","USB1","XPA","XPC"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FRAGILE_SKIN":{"collection":"C5:HPO","systematicName":"M35086","pmid":"","exactSource":"HP:0001030","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001030","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FRAGILE_SKIN","geneSymbols":["ADAMTS2","B3GALT6","C1R","C1S","CAST","CHST14","COL17A1","COL1A1","COL1A2","COL3A1","COL5A1","COL5A2","COL7A1","CPOX","DSP","EXPH5","FERMT1","GATA1","ITGA3","ITGB4","JUP","KRT1","KRT14","KRT5","LAMA3","LAMB3","LAMC2","MMP1","PDGFRB","PKP1","PLEC","PLOD1","PRKACA","UROD","UROS"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SUBCUTANEOUS_LIPOMA":{"collection":"C5:HPO","systematicName":"M35087","pmid":"","exactSource":"HP:0001031","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001031","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUBCUTANEOUS_LIPOMA","geneSymbols":["AKT1","BMPR1A","CDKN1B","FGFR1","MEN1","PIK3CA","PTEN"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABSENT_DISTAL_INTERPHALANGEAL_CREASES":{"collection":"C5:HPO","systematicName":"M35088","pmid":"","exactSource":"HP:0001032","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001032","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_DISTAL_INTERPHALANGEAL_CREASES","geneSymbols":["HOXD13","IHH","LMX1B","RBBP8","TLK2","TPM2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PARAKERATOSIS":{"collection":"C5:HPO","systematicName":"M35090","pmid":"","exactSource":"HP:0001036","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001036","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PARAKERATOSIS","geneSymbols":["ATP2A2","CARD14","CDSN","CLDN1","CYP4F22","DSP","ELOVL1","ERCC6","FLG2","GLS","IL36RN","KRT10","KRT13","KRT5","KRT74","LDHA","LORICRIN","MBTPS2","MVD","MVK","NIPAL4","NLRP1","NSDHL","PERP","PIK3CA","PMVK","POMP","RHBDF2","SPINK5","TGM1","TRPM4","TRPV3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FACIAL_ERYTHEMA":{"collection":"C5:HPO","systematicName":"M35091","pmid":"","exactSource":"HP:0001041","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001041","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FACIAL_ERYTHEMA","geneSymbols":["ADGRE2","AIP","ANAPC1","BLM","C1QB","GJA1","GNB2","KCNQ2","MBTPS2","RECQL4","RHOH","USP8"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_VITILIGO":{"collection":"C5:HPO","systematicName":"M35093","pmid":"","exactSource":"HP:0001045","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001045","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VITILIGO","geneSymbols":["ACP5","AIRE","CAT","CTNNBL1","CXCR4","DCLRE1C","DSTYK","EMC1","FAS","FOXD3","KANSL1","KITLG","LRBA","MT-CO1","MT-CO2","MT-CO3","MT-ND1","MT-ND4","MT-ND5","MT-ND6","MT-TF","MT-TH","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TW","NBN","NFKB2","NLRP1","PLCG2","POGZ","PTPN22","SLX4","TRAC"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INTERMITTENT_JAUNDICE":{"collection":"C5:HPO","systematicName":"M35094","pmid":"","exactSource":"HP:0001046","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001046","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTERMITTENT_JAUNDICE","geneSymbols":["ABCB11","ATP8B1","KCNN4","PIEZO1","RHAG","SLC4A1","SLCO1B1","SLCO1B3","SPTB"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ATOPIC_DERMATITIS":{"collection":"C5:HPO","systematicName":"M35095","pmid":"","exactSource":"HP:0001047","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001047","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ATOPIC_DERMATITIS","geneSymbols":["ABCC9","BRAF","CARD11","CDSN","CFTR","CTLA4","DOCK8","DPP9","FLG2","FOXN1","GNB2","HSPA9","IFIH1","IGHG2","IGKC","IL6R","IL6ST","IPO8","JAK1","KARS1","KRT1","KRT74","LRRC32","MORC2","NEK9","PGM3","RRAS2","SCNN1A","SCNN1B","SCNN1G","SRCAP","TBC1D2B","ZNF341"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CAVERNOUS_HEMANGIOMA":{"collection":"C5:HPO","systematicName":"M35096","pmid":"","exactSource":"HP:0001048","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001048","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CAVERNOUS_HEMANGIOMA","geneSymbols":["ACVRL1","AKT1","ATP2B1","BIN1","BRAF","CCM2","DNM2","ENG","ESCO2","GDF2","GNPTAB","HOXD13","HRAS","IDH1","KLLN","KRAS","KRIT1","MAP2K1","MAP2K2","MTMR14","MYF6","NOTCH1","NRAS","PDCD10","PIK3CA","PTEN","RYR1","SDHB","SDHC","SDHD","SEC23B","SMAD4","TEK","THSD1","USF3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PLETHORA":{"collection":"C5:HPO","systematicName":"M45394","pmid":"","exactSource":"HP:0001050","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001050","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PLETHORA","geneSymbols":["ARMC5","ATRX","BRAF","CDH23","EPOR","GNAS","JAK2","NR3C1","SH2B3","TP53","USP48","USP8","VHL"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SEBORRHEIC_DERMATITIS":{"collection":"C5:HPO","systematicName":"M35097","pmid":"","exactSource":"HP:0001051","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001051","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEBORRHEIC_DERMATITIS","geneSymbols":["ARVCF","BTD","C5","CARMIL2","CIB1","COMT","GP1BB","HIRA","HPGD","IL7","JMJD1C","MCCC2","PIGA","PIK3CA","RBM8A","RREB1","SEC24C","SLC39A7","SLCO2A1","TBX1","TKT","TMC6","TMC8","TRAF3IP2","UFD1","ZNF750"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPOPIGMENTED_SKIN_PATCHES":{"collection":"C5:HPO","systematicName":"M35098","pmid":"","exactSource":"HP:0001053","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001053","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPIGMENTED_SKIN_PATCHES","geneSymbols":["ABCB6","ABCC9","ACP5","AIRE","AKT1","ANTXR1","ARVCF","BLM","BRCA1","BRCA2","BRIP1","BTK","CAV1","CCN2","CCR6","CD28","CHN1","CIB1","CLTRN","COMT","COX7B","CRIPT","CTC1","CTLA4","CTSC","DDB2","DKC1","EBP","EDN3","EDNRB","ERCC2","ERCC3","ERCC4","ERCC5","ERF","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FAS","FERMT1","FGFR2","FGFR3","GALC","GP1BB","HCCS","HIRA","HLA-DRB1","IKBKG","IL7","IRF5","JMJD1C","KIAA0319L","KIT","KITLG","KLLN","KRT14","KRT5","MAD2L2","MAFB","MC1R","MITF","MTOR","NDUFB11","NHP2","NOP10","NPM1","NRAS","PALB2","PARN","PAX3","PCNT","PIK3CA","PSAP","PTEN","PTPN22","RAD51","RAD51C","RFWD3","RREB1","RTEL1","SALL4","SDHB","SDHC","SDHD","SEC23B","SEC24C","SLC6A19","SLX4","SMO","SNAI2","SOX10","TBX1","TCF4","TERC","TERT","TINF2","TMC6","TMC8","TNFRSF1B","TWIST2","TYMS","TYR","UBE2A","UBE2T","UFD1","USB1","USF3","WRAP53","XPA","XPC","XRCC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NUMEROUS_NEVI":{"collection":"C5:HPO","systematicName":"M35099","pmid":"","exactSource":"HP:0001054","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001054","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NUMEROUS_NEVI","geneSymbols":["BRAF","CDK4","FGFR3","HEPACAM","HRAS","KANSL1","NRAS","PCGF2","PIK3CA","PTEN","STK11"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ERYSIPELAS":{"collection":"C5:HPO","systematicName":"M35100","pmid":"","exactSource":"HP:0001055","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001055","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ERYSIPELAS","geneSymbols":["ADAMTS3","ANGPT2","CCBE1","FAM111B","FAT4","FLT4","GJC2","KIF11","MEFV","PIEZO1","TNFRSF1A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MILIA":{"collection":"C5:HPO","systematicName":"M35101","pmid":"","exactSource":"HP:0001056","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001056","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MILIA","geneSymbols":["COL17A1","COL7A1","CYLD","FERMT1","ITGB4","KRT14","KRT5","LAMA3","LAMB3","LAMC2","LIFR","MMP1","OFD1","PLEC","PPOX","PTCH1","SMARCAD1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APLASIA_CUTIS_CONGENITA":{"collection":"C5:HPO","systematicName":"M35102","pmid":"","exactSource":"HP:0001057","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001057","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_CUTIS_CONGENITA","geneSymbols":["ALG9","ALX4","ARHGAP31","ATP6V1B2","BMS1","CDH1","COL17A1","COL7A1","COX7B","CPLX1","CTBP1","DLL4","DOCK6","DSP","EOGT","FGFRL1","HSPA9","ITGA6","ITGB4","KCTD1","KRAS","KRT14","KRT5","LAMA3","LAMB3","LAMC2","LETM1","MCTP2","MMP1","MSX2","NELFA","NOTCH1","NSD2","PIGG","PLEC","RBPJ","TAF1","TFAP2A","UBA2","UBR1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_POOR_WOUND_HEALING":{"collection":"C5:HPO","systematicName":"M35103","pmid":"","exactSource":"HP:0001058","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001058","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POOR_WOUND_HEALING","geneSymbols":["ADAMTS2","AEBP1","AIP","ATL1","ATL3","ATRX","BGN","BRAF","C1R","CD46","CDH23","CEP104","CFH","CFI","COL12A1","COL1A1","COL1A2","COL5A1","COL5A2","DDR2","DPP9","DSE","ELN","F13A1","F13B","F8","FBLN5","GBA1","GJA1","HELLPAR","ITGB2","KIF22","LMNA","NGF","NR3C1","NTRK1","PLOD1","RAC2","SCN11A","SERPINE1","SPTLC1","SPTLC2","TNXB","TP53","USP48","USP8"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PTERYGIUM":{"collection":"C5:HPO","systematicName":"M35104","pmid":"","exactSource":"HP:0001059","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001059","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PTERYGIUM","geneSymbols":["ADGRG6","ALPK3","BHLHA9","CHRNA1","CHRND","CHRNG","CHUK","DDB2","DKC1","DOK7","EFNB1","ERCC2","ERCC3","ERCC4","ERCC5","FKBP10","FLVCR2","GPC6","HSPG2","IGF2","IRF6","IRX5","ITGA6","ITGB4","KIF14","KIF21A","LMX1B","MMP14","MMP2","MUSK","MYH3","MYOD1","NHP2","NOP10","NUP88","PHGDH","PITX1","PLEC","PLOD2","RAPSN","RIPK4","SLC18A3","TUBA1A","XPA","XPC"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_AXILLARY_PTERYGIUM":{"collection":"C5:HPO","systematicName":"M35105","pmid":"","exactSource":"HP:0001060","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001060","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AXILLARY_PTERYGIUM","geneSymbols":["ADGRG6","CHRNG","CHUK","EFNB1","GPC6","ITGB4","MYH3","PLEC","RIPK4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ACNE":{"collection":"C5:HPO","systematicName":"M35106","pmid":"","exactSource":"HP:0001061","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001061","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACNE","geneSymbols":["ABCC6","AGA","AIP","AR","ARMC5","ARVCF","ATRX","BRAF","C4A","CCR1","CDH23","CLN3","COMT","CYP11B1","ECM1","ENPP1","ERAP1","ESR1","FAS","FGFR2","GJB2","GJB6","GNAS","GP1BB","GPR101","H6PD","HIRA","HLA-B","HPGD","HYOU1","IFNGR1","IKBKB","IL10","IL12A","IL12A-AS1","IL23R","JMJD1C","KDF1","KLRC4","KRT5","LHCGR","LPIN2","MEFV","MEIS2","NCSTN","NR3C1","PAPSS2","POFUT1","POGLUT1","PRKACA","PSEN1","PSENEN","PSTPIP1","RBP4","RREB1","SEC24C","SH3PXD2B","SLCO2A1","STAT4","TBX1","TLR4","TP53","UBAC2","UFD1","USP48","USP8","WNT4","XIAP","XYLT1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_STRIAE_DISTENSAE":{"collection":"C5:HPO","systematicName":"M35108","pmid":"","exactSource":"HP:0001065","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001065","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_STRIAE_DISTENSAE","geneSymbols":["ABCC6","AIP","ARMC5","ATRX","BGN","BRAF","CDH23","CDKN2A","COL1A1","COL5A1","COL5A2","COPB1","CTNNB1","CUL4B","DLG4","ENPP1","FBN1","GNAS","IPO8","LOX","NR3C1","PDE11A","PRKAR1A","SMAD2","SMAD3","SPEN","TERT","TGFB2","TGFBR1","TGFBR2","TNXB","TP53","USP48","USP8","ZNRF3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NEUROFIBROMA":{"collection":"C5:HPO","systematicName":"M35109","pmid":"","exactSource":"HP:0001067","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001067","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEUROFIBROMA","geneSymbols":["AKT1","BAP1","KIT","LRP1","MLH1","NF1","NF2","PDGFB","PIK3CA","SDHB","SDHC","SMARCB1","SMARCE1","SMO","SPRED1","SPTBN1","SUFU","TERT","TRAF7"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_EPISODIC_HYPERHIDROSIS":{"collection":"C5:HPO","systematicName":"M35110","pmid":"","exactSource":"HP:0001069","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001069","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EPISODIC_HYPERHIDROSIS","geneSymbols":["ABCC8","ALDOB","DLST","DNMT3A","ELP1","EPAS1","FH","HNF1A","KCNJ11","KIF1A","KIF1B","MAX","MDH2","NF1","RET","RETREG1","SCN9A","SDHA","SDHAF2","SDHB","SDHC","SDHD","SLC25A11","TMEM127","UCP2","VHL","WNK1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MOTTLED_PIGMENTATION":{"collection":"C5:HPO","systematicName":"M35111","pmid":"","exactSource":"HP:0001070","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001070","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MOTTLED_PIGMENTATION","geneSymbols":["DUOX2","HPGD","KRT14","KRT5","LMNA","LTV1","RECQL4","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_THICKENED_SKIN":{"collection":"C5:HPO","systematicName":"M35112","pmid":"","exactSource":"HP:0001072","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001072","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THICKENED_SKIN","geneSymbols":["AAAS","AAGAB","AARS1","ABCA12","ABCC8","ABCC9","ABHD5","ACTC1","ACTN2","ADA","ADAM10","ADAMTS10","ADAMTS2","ADAMTSL2","AFF4","AGPAT2","AHSG","AIP","AKT1","AKT2","ALDH3A2","ALMS1","ALOX12B","ALOXE3","ANAPC1","ANGPT2","ANKRD1","ANOS1","ANTXR2","AP1B1","AP1S1","APPL1","AQP5","ARSB","ARSL","ASPRV1","ATL1","ATL3","ATP2A2","ATP2C1","ATP7A","BAG3","BAG5","BLK","BRAF","BSCL2","BUB1","CAP2","CARD14","CARMIL2","CARS1","CAST","CAV1","CAVIN1","CCDC141","CD28","CDH3","CDSN","CEL","CERS3","CFTR","CHD7","CHD8","CHKB","CIDEC","CLCNKB","CLDN1","CLEC7A","COG6","COL12A1","COL14A1","COL17A1","COL1A1","COL4A5","COL6A1","COL6A2","COL6A3","COL7A1","COPB1","CRYAB","CSRP3","CST6","CSTA","CTC1","CTLA4","CTSC","CUL4B","CWC27","CYP19A1","CYP4F22","DCC","DCLRE1C","DDB2","DDR2","DES","DIP2B","DKC1","DMD","DNAJC21","DOLK","DPAGT1","DPP9","DSC2","DSC3","DSG1","DSG2","DSG4","DSP","DST","DUSP6","EBP","ECM1","EFL1","ELMO2","ELOVL1","ELOVL4","EMD","ENPP1","EPHB4","ERCC2","ERCC3","ERCC4","ERCC5","ERCC6","ERF","ERMARD","ESR1","EXPH5","FBN1","FDPS","FERMT1","FEZF1","FGF17","FGF8","FGFR1","FGFR2","FGFR3","FHL1","FHL2","FIG4","FITM2","FKBP14","FKTN","FLG","FLG2","FLRT3","FLT4","FOS","FOXG1","FUCA1","GATA1","GATAD1","GBA1","GCK","GINS1","GJA1","GJB2","GJB3","GJB4","GJB6","GJC2","GLA","GLB1","GLS","GMPPA","GNB2","GNPTAB","GPR101","GRHL2","GTF2E2","GTF2H5","HAND2","HDAC6","HESX1","HLA-B","HLA-DRA","HNF1A","HNF4A","HPGD","HRAS","HS6ST1","HSD11B1","IDUA","IGHG2","IGKC","IKBKG","IL17F","IL17RA","IL17RC","IL17RD","IL1RN","IL2RB","IL2RG","IL36RN","IL7R","INS","INSR","ITGB4","ITGB6","JARID2","JPH2","JUP","KANK2","KANSL1","KCNJ11","KCTD1","KDF1","KDSR","KIF11","KIT","KITLG","KLF11","KLHL24","KLLN","KRAS","KRT1","KRT10","KRT13","KRT14","KRT16","KRT17","KRT2","KRT5","KRT6A","KRT6B","KRT6C","KRT74","KRT81","KRT83","KRT86","KRT9","LAMA3","LAMA4","LAMB3","LAMC2","LARP7","LBR","LDB3","LDHA","LEMD3","LIG4","LIPE","LIPN","LMNA","LMOD2","LORICRIN","LRP1","LSS","LTBP2","LTBP3","LTV1","LZTR1","MAD1L1","MAP2K1","MAP2K2","MAPRE2","MARS1","MBTPS2","MC4R","MCOLN1","MDFIC","MMP1","MMP2","MPDU1","MPLKIP","MSMO1","MT-TS1","MTX2","MVD","MVK","MYBPC3","MYH6","MYH7","MYPN","NAGA","NDNF","NECTIN1","NECTIN4","NEK9","NEU1","NEUROD1","NEXN","NF1","NHP2","NIPAL4","NLRP1","NLRP3","NOD2","NOP10","NOTCH2","NPM1","NRAS","NSDHL","NSMCE2","ORAI1","PAH","PARN","PAX4","PCSK1","PDGFB","PDGFRB","PDX1","PEPD","PERP","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PEX7","PHGDH","PHYH","PI4KA","PIEZO1","PIGA","PIGL","PIK3CA","PKDCC","PKP1","PLEC","PLIN1","PLN","PLOD1","PMVK","PNPLA1","PNPLA2","POFUT1","POGLUT1","POLA1","POLR3A","POMC","POMP","PPARG","PPCS","PPOX","PRDM16","PROK2","PROKR2","PSAT1","PSEN1","PSEN2","PSENEN","PSMB4","PSMB8","PSMB9","PTEN","RAF1","RAG1","RAG2","RBM20","RBP4","RECQL4","RHBDF2","RIGI","RIN2","RIT1","RMRP","RNF113A","RNU12","RNU4ATAC","RPL3L","RSPO1","RTEL1","RYR1","SASH1","SBDS","SCN5A","SDHA","SDHB","SDHC","SDHD","SDR9C7","SEC23B","SEMA3A","SERPINA12","SERPINB7","SERPINB8","SGCD","SGPL1","SH3PXD2B","SHOC2","SLC12A3","SLC17A9","SLC27A4","SLC29A3","SLC45A2","SLCO2A1","SLURP1","SMAD4","SMARCA2","SMARCAD1","SMARCD2","SNAP29","SOX10","SOX18","SPINK5","SPRY4","SPTLC1","SPTLC2","SRD5A3","SREBF1","SRP54","ST14","STIM1","STS","SULT2B1","SUMF1","SUPT16H","SYNE1","SYNE2","TACR3","TAF1A","TAFAZZIN","TARS1","TAT","TCAP","TERC","TERT","TFE3","TGM1","TGM5","TINF2","TMEM43","TMPO","TMPRSS6","TNFRSF1B","TNNC1","TNNI3","TNNT2","TP63","TPM1","TRAF3IP2","TRAPPC11","TRIP4","TRPM4","TRPV3","TTC7A","TTN","TUBB","TXNRD2","TYMS","TYR","UROD","UROS","USB1","USF3","VCL","VEGFC","VEZF1","VIPAS39","VPS33A","VPS33B","WDR11","WNT10A","WRAP53","WRN","XPA","XPC","XRCC4","ZC4H2","ZMPSTE24","ZNF750"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CIGARETTE_PAPER_SCARS":{"collection":"C5:HPO","systematicName":"M35113","pmid":"","exactSource":"HP:0001073","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001073","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CIGARETTE_PAPER_SCARS","geneSymbols":["COL12A1","COL1A1","COL3A1","COL5A1","COL5A2","COL6A1","COL6A2","COL6A3","CTSC","SLC39A13"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ATYPICAL_NEVI_IN_NON_SUN_EXPOSED_AREAS":{"collection":"C5:HPO","systematicName":"M46060","pmid":"","exactSource":"HP:0001074","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001074","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ATYPICAL_NEVI_IN_NON_SUN_EXPOSED_AREAS","geneSymbols":["BRAF","CDK4","PDE11A","PRKAR1A","STK11"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ATROPHIC_SCARS":{"collection":"C5:HPO","systematicName":"M35114","pmid":"","exactSource":"HP:0001075","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001075","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ATROPHIC_SCARS","geneSymbols":["ADA2","ADAMTS2","AEBP1","B3GALT6","B4GALT7","C1R","C1S","CARMIL2","CHST14","COL12A1","COL17A1","COL1A1","COL1A2","COL3A1","COL5A1","COL5A2","COL6A1","COL6A2","COL6A3","COL7A1","CTSC","DSE","DST","FKBP14","ITGB4","KRT14","KRT5","LAMA3","LAMB3","LAMC2","LRP1","MMP1","PLEC","PLOD1","SLC39A13","SMAD3","TNXB"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BILIARY_TRACT_ABNORMALITY":{"collection":"C5:HPO","systematicName":"M35115","pmid":"","exactSource":"HP:0001080","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001080","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BILIARY_TRACT_ABNORMALITY","geneSymbols":["ABCB4","ABCC2","ABCD1","AKR1D1","ARL6","ARSA","B3GLCT","BBS1","BCAP31","BCS1L","BMP6","BRCA1","BRCA2","CC2D2A","CCDC28B","CD40LG","CEP290","CFTR","CIITA","CLDN1","CPLX1","CTBP1","CYP7B1","DCDC2","DZIP1L","ERCC4","ESCO2","FARSB","FCGR2A","FGFRL1","FOCAD","GATA6","GBA1","GCGR","GPR35","HFE","HNF1B","HSD17B4","HSD3B7","IFT140","IGHG2","IGKC","IL12A","IL12RB1","IL21R","IL36RN","INPP5E","IRF5","ITCH","JAG1","KIF12","KIF3B","KRT18","LBR","LETM1","LMBRD1","LMNA","LONP1","MED12","MICOS13","MKS1","MMEL1","MST1","NPHP3","NSD2","PEX1","PEX14","PEX2","PEX5","PHKG2","PI4KA","PKHD1","POLG","POU2AF1","PSAP","PTPN3","REL","RFX5","RFX6","RFXANK","RFXAP","RNF43","RPGRIP1L","SCARB2","SEMA4D","SLC37A4","SPIB","STK11","SUPT16H","TCF4","TCTN3","TGFB1","TMEM216","TMEM67","TNFSF15","TNPO3","TTC26","TTC7A","UGT1A1","USP9X","VPS33B","WDR19","WDR35","ZFYVE19","ZIC3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CHOLECYSTITIS":{"collection":"C5:HPO","systematicName":"M35117","pmid":"","exactSource":"HP:0001082","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001082","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHOLECYSTITIS","geneSymbols":["ABCB11","ABCB4","ACVRL1","ALDOA","ARSA","ATP8B1","CALR","ENG","F5","GDF2","GPI","HK1","IGHG2","IGKC","JAK2","MECP2","NR1H4","PKLR","PNPLA2","PSAP","SMAD4","TFE3","TPI1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ECTOPIA_LENTIS":{"collection":"C5:HPO","systematicName":"M35118","pmid":"","exactSource":"HP:0001083","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001083","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ECTOPIA_LENTIS","geneSymbols":["AASS","ADAMTS10","ADAMTS17","ADAMTSL4","ASPH","B3GALT6","BAP1","BCOR","C12orf57","CBS","CHRDL1","COL11A1","COL18A1","COL2A1","COL5A1","CPAMD8","CYSLTR2","ELP4","FBN1","FBN2","GNA11","GNAQ","HSPG2","LOXL1","LTBP2","MOCS1","MOCS2","NDP","P3H2","PAK2","PAX2","PAX6","PCYT1A","PORCN","SALL2","SF3B1","SMAD3","SUOX","TAP1","TAP2","TAPBP","TGFB2","TGFBR1","TGFBR2","WT1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PAPILLEDEMA":{"collection":"C5:HPO","systematicName":"M35119","pmid":"","exactSource":"HP:0001085","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001085","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PAPILLEDEMA","geneSymbols":["AKT1","APC","BAP1","BRAF","CCND1","CTNNB1","FAM111A","GBA1","IDS","IFT172","IL11RA","MMP14","MMP2","NF2","NLRP3","PDGFB","PIK3CA","SLC4A2","SMARCB1","SMARCE1","SMO","SOST","SUFU","TERT","TP53","TRAF7","UQCRFS1","VHL"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DEVELOPMENTAL_GLAUCOMA":{"collection":"C5:HPO","systematicName":"M35120","pmid":"","exactSource":"HP:0001087","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001087","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEVELOPMENTAL_GLAUCOMA","geneSymbols":["ADA2","ADAMTSL1","ADAR","AKT1","ATOH7","B3GAT3","CANT1","CHST3","CYP1B1","DAG1","FGFR2","FKRP","FKTN","FLNA","FOXC1","FOXE3","FUT8","FZD4","GATA1","GLIS3","GNAQ","HEATR3","IFIH1","LARGE1","LMX1B","LSM11","LTBP2","MAB21L1","MAFA","NCAPG2","NDP","OCRL","PAX6","PITX2","POMGNT1","POMT1","POMT2","PTEN","PXDN","PYCR1","RNASEH2A","RNASEH2B","RNASEH2C","RNU7-1","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS7","SAMHD1","SBF2","SH3PXD2B","SIX6","SRY","TEK","TREX1","TSR2","TWIST1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BRUSHFIELD_SPOTS":{"collection":"C5:HPO","systematicName":"M41228","pmid":"","exactSource":"HP:0001088","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001088","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BRUSHFIELD_SPOTS","geneSymbols":["GATA1","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PRR12"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_IRIS_ATROPHY":{"collection":"C5:HPO","systematicName":"M41229","pmid":"","exactSource":"HP:0001089","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001089","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IRIS_ATROPHY","geneSymbols":["ASPH","C1QTNF5","COQ2","LRP5","OVOL2","ROBO1","ZEB2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALLY_LARGE_GLOBE":{"collection":"C5:HPO","systematicName":"M35121","pmid":"","exactSource":"HP:0001090","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001090","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALLY_LARGE_GLOBE","geneSymbols":["ADAMTSL1","AKT1","ALKBH8","ARX","ATOH7","ATR","B3GAT3","CASK","CHST3","CHSY1","COL2A1","CPSF1","CYP1B1","DAG1","FBN1","FGFR2","FKRP","FKTN","FUT8","FZD4","GLIS3","GNAQ","KCNJ1","KCNJ6","LARGE1","LRPAP1","LTBP2","MAB21L1","NCAPG2","NDP","OCRL","PIGV","PIK3R2","POMGNT1","POMK","POMT1","POMT2","PTEN","PXDN","SBF2","SH3PXD2B","SIX6","TWIST1","WDR26"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABSENT_LACRIMAL_PUNCTUM":{"collection":"C5:HPO","systematicName":"M35122","pmid":"","exactSource":"HP:0001092","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001092","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_LACRIMAL_PUNCTUM","geneSymbols":["FGF10","FGFR2","FGFR3","TP63","UBR1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_OPTIC_NERVE_DYSPLASIA":{"collection":"C5:HPO","systematicName":"M35123","pmid":"","exactSource":"HP:0001093","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001093","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OPTIC_NERVE_DYSPLASIA","geneSymbols":["B4GAT1","BRAF","CPAMD8","KIDINS220","PAX2","PEX2","PEX5"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_IRIDOCYCLITIS":{"collection":"C5:HPO","systematicName":"M35124","pmid":"","exactSource":"HP:0001094","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001094","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IRIDOCYCLITIS","geneSymbols":["AIRE","ANKRD55","CD247","HLA-DRB1","IL2RA","IL2RB","NOD2","PTPN2","PTPN22","STAT4","STUB1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPERTENSIVE_RETINOPATHY":{"collection":"C5:HPO","systematicName":"M47042","pmid":"","exactSource":"HP:0001095","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001095","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERTENSIVE_RETINOPATHY","geneSymbols":["CCND1","DLST","DNMT3A","EPAS1","FH","HSD11B2","KIF1B","MAX","MDH2","NF1","RET","SDHA","SDHAF2","SDHB","SDHC","SDHD","SLC25A11","TMEM127","VHL"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_KERATOCONJUNCTIVITIS":{"collection":"C5:HPO","systematicName":"M35125","pmid":"","exactSource":"HP:0001096","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001096","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_KERATOCONJUNCTIVITIS","geneSymbols":["AARS1","AEBP1","AIRE","BTNL2","C4A","CARS1","CCR1","COL17A1","ERAP1","ERCC2","ERCC3","ERCC6","ERCC8","FAS","FBN1","FGF10","FGFR2","FGFR3","GATA1","GJB2","GJB6","GSN","GTF2E2","GTF2H5","HLA-B","HLA-DRB1","HLCS","IARS2","IFNGR1","IL10","IL12A","IL12A-AS1","IL23R","KLRC4","LBR","MAB21L1","MEFV","MPLKIP","MTTP","NLRP1","NOD2","RECQL","RNF113A","RNF125","SCN9A","SREBF1","STAT4","TARS1","TLR4","UBAC2","UROD","UROS"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FUNDUS_ATROPHY":{"collection":"C5:HPO","systematicName":"M46061","pmid":"","exactSource":"HP:0001099","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001099","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FUNDUS_ATROPHY","geneSymbols":["C1QTNF5","GUCY2D","PCARE","RP2","RPE65"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HETEROCHROMIA_IRIDIS":{"collection":"C5:HPO","systematicName":"M35126","pmid":"","exactSource":"HP:0001100","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001100","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HETEROCHROMIA_IRIDIS","geneSymbols":["ACTB","ACTG1","AKT1","CHN1","EDC3","EDN3","EDNRB","ELP1","GNAQ","HRAS","KIT","KITLG","LMX1B","MAFB","MC1R","MITF","OCA2","PAX3","PNPLA6","PTEN","SALL4","SNAI2","SOX10","TYR"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ANGIOID_STREAKS_OF_THE_FUNDUS":{"collection":"C5:HPO","systematicName":"M35127","pmid":"","exactSource":"HP:0001102","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001102","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANGIOID_STREAKS_OF_THE_FUNDUS","geneSymbols":["ABCC6","AKT1","ENPP1","GALNT3","GGCX","PIK3CA","PTEN","TNFRSF11B","XYLT1","XYLT2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_MACULAR_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M35128","pmid":"","exactSource":"HP:0001103","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001103","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MACULAR_MORPHOLOGY","geneSymbols":["AARS1","ABCA4","ABCC6","ADAR","AGXT","AIPL1","ALDH3A2","ANO10","AP3D1","APC","APOE","ARHGEF18","ARL2BP","ARL3","ASAH1","ATF6","ATOH7","ATXN7","BBS5","BEST1","BLOC1S3","BLOC1S5","C1QTNF5","C9","CACNA1F","CARS1","CCND1","CCNQ","CDH3","CEP78","CFAP418","CFH","CFHR1","CFHR3","CFI","CHM","CHST6","CLCN2","CLDN19","CLEC3B","CLN3","CNGA3","CNGB1","CNGB3","CNNM4","COG1","COL18A1","CP","CRB1","CRLS1","CRX","CST3","CTNNA1","CTNNB1","CYP4V2","DCT","DHDDS","DHX38","DPM1","DPYD","DRAM2","EBP","EDN3","EDNRB","EFEMP1","ELOVL4","ENPP1","EPG5","ERCC2","ERCC3","FBLN1","FBLN5","FBN2","FOXC1","FZD4","GBA1","GDF3","GDF6","GNAT2","GPR143","GRK1","GTF2E2","GTF2H5","GUCA1A","GUCA1B","GUCY2D","HARS1","HGSNAT","HK1","HLA-A","HMCN1","HMX1","HPS4","HPS5","HPS6","HTRA1","IDH3A","IDS","IFT140","IFT74","IKBKG","IMPDH1","IMPG1","IMPG2","KCNV2","KIAA1549","KLHL7","LAMB2","LCA5","LIG3","LRAT","LRP5","LYST","LZTFL1","MAF","MAK","MAPKAPK3","MC1R","MERTK","MFRP","MFSD8","MITF","MMACHC","MPDZ","MPLKIP","MT-TE","MT-TK","MT-TL1","MTSS2","MYO5A","NDP","NEU1","NF2","NLRP3","NMNAT1","NOD2","NR2E3","NRL","OAT","OCA2","OFD1","OPN1LW","OPN1MW","PAK2","PAX2","PAX6","PCYT1A","PDE6C","PDE6G","PDE6H","PEX1","PITPNM3","PLK4","POMGNT1","PPT1","PRCD","PROM1","PRPF31","PRPF4","PRPF8","PRPH2","PRPS1","PRR12","RAB28","RAX2","RBP4","RD3","RDH5","REEP6","RHO","RLBP1","RNF113A","RP1L1","RP2","RP9","RPE65","RPGR","RPGRIP1","RS1","SAG","SCAPER","SEMA4A","SH3BP2","SIX6","SLC24A1","SLC24A5","SLC25A19","SLC38A8","SLC45A2","SLC6A6","SMPD1","SOX10","SPATA7","SPG11","SYCE1","TARS1","TENM3","TIMP3","TLCD3B","TMCO1","TNFRSF11B","TRAF3IP1","TREX1","TRIM44","TRNT1","TSPAN12","TTC8","TULP1","TYR","UGP2","UNC119","VHL","VPS13B","WDR19","WT1","XYLT1","XYLT2","YARS1","ZFYVE26","ZNF408","ZNF513"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MACULAR_HYPOPLASIA":{"collection":"C5:HPO","systematicName":"M35129","pmid":"","exactSource":"HP:0001104","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001104","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MACULAR_HYPOPLASIA","geneSymbols":["ATOH7","COL18A1","DPYD","EBP","EPG5","FZD4","HMX1","HPS6","LAMB2","LYST","MAF","MPDZ","NDP","PAX6","SLC45A2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RETINAL_ATROPHY":{"collection":"C5:HPO","systematicName":"M35130","pmid":"","exactSource":"HP:0001105","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001105","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETINAL_ATROPHY","geneSymbols":["ABCA4","AIPL1","ALDH3A2","ALMS1","APOE","ARL2BP","ARSG","ASXL1","ATF6","BEST1","C1QTNF5","CA2","CDHR1","CEP78","CFAP418","CFH","CFHR1","CFHR3","CFI","CNGA3","CNGB3","CNNM4","CRX","CTSD","CYP4V2","DHX38","DRAM2","EFEMP1","ELOVL4","EPG5","ERCC6","ERCC8","FKRP","FKTN","GBA1","GNAT2","GUCA1A","GUCY2D","HGSNAT","HK1","HLA-A","HMCN1","IDH3A","IFT140","IFT43","IMPDH1","IMPG2","INPP5E","KCNV2","KIAA1549","LAMA1","LARGE1","LCA5","LRAT","LZTFL1","MAPKAPK3","MERTK","MFRP","MIR204","NMNAT1","NRL","OFD1","PCYT1A","PDE6C","PDE6H","PLK4","POMGNT1","POMT1","POMT2","PROM1","PRPF31","PRPF6","PRPH2","RAX2","RBP4","RDH11","RDH5","REEP6","RHO","RLBP1","RP9","RPE65","RPGR","RS1","SH3BP2","SIX6","SLC24A1","SLC6A6","SLC7A14","SNRNP200","SPATA7","STUB1","TIMP3","TLCD3B","TNFRSF11B","TOPORS","TRNT1","TUB","UNC119","VCAN","WDR19","YARS1","ZNF408"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_OCULAR_ALBINISM":{"collection":"C5:HPO","systematicName":"M35131","pmid":"","exactSource":"HP:0001107","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001107","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OCULAR_ALBINISM","geneSymbols":["AP3B1","AP3D1","BLOC1S3","BLOC1S5","BLOC1S6","CASZ1","DTNBP1","EPG5","GABRD","GPR143","HPS1","HPS4","HPS5","HPS6","HSPG2","KCNAB2","LUZP1","LYST","MMP23B","PDPN","PRDM16","PRKCZ","RERE","SKI","SLC45A2","SOX10","SPEN","TYR","UBE4B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LEBER_OPTIC_ATROPHY":{"collection":"C5:HPO","systematicName":"M35132","pmid":"","exactSource":"HP:0001112","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001112","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LEBER_OPTIC_ATROPHY","geneSymbols":["MT-ATP6","MT-CO3","MT-CYB","MT-ND1","MT-ND2","MT-ND4","MT-ND4L","MT-ND5","MT-ND6","PRICKLE3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_POSTERIOR_POLAR_CATARACT":{"collection":"C5:HPO","systematicName":"M35134","pmid":"","exactSource":"HP:0001115","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001115","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POSTERIOR_POLAR_CATARACT","geneSymbols":["APC","BBS2","CRYAB","EPHA2","ITM2B","PITX3","VIM","ZBTB20"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MACULAR_COLOBOMA":{"collection":"C5:HPO","systematicName":"M41230","pmid":"","exactSource":"HP:0001116","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001116","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MACULAR_COLOBOMA","geneSymbols":["CLDN19","CRB1","DHX38","LCA5","LRAT","MMACHC","NMNAT1","PRPS1","RPE65","SPATA7","TENM3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SUDDEN_LOSS_OF_VISUAL_ACUITY":{"collection":"C5:HPO","systematicName":"M35135","pmid":"","exactSource":"HP:0001117","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001117","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUDDEN_LOSS_OF_VISUAL_ACUITY","geneSymbols":["AIP","BRAF","CDH23","CTNNB1","MEN1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_JUVENILE_CATARACT":{"collection":"C5:HPO","systematicName":"M35136","pmid":"","exactSource":"HP:0001118","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001118","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_JUVENILE_CATARACT","geneSymbols":["ADNP","ANAPC1","CYP27A1","FAR1","LEMD2","MECP2","NACC1","RDH11","RECQL4","SPTBN1","TGM3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_CORNEAL_SIZE":{"collection":"C5:HPO","systematicName":"M35138","pmid":"","exactSource":"HP:0001120","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001120","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_CORNEAL_SIZE","geneSymbols":["AARS1","ACTB","ACTG1","ADAMTS18","ANK1","ANTXR1","ARL2","ATOH7","B3GALNT2","B3GALT6","B3GLCT","B4GAT1","B9D1","B9D2","BAZ1B","BCL7B","BCOR","BEST1","BMP4","BRD4","BUD23","CARS1","CC2D2A","CDH11","CENPF","CEP290","CHN1","CHRDL1","CHST14","CLIP2","COL11A1","COL4A1","CPLX1","CRPPA","CRYAA","CRYBA4","CRYBB1","CRYBB2","CRYGC","CRYGD","CSPP1","CTBP1","CTCF","CTDP1","DAG1","DEAF1","DNAJC30","DPYD","EBP","EIF4H","ELN","ERCC2","ERCC3","ERCC6","ERCC8","FANCB","FBN1","FGD1","FGF3","FGFR2","FKBP14","FKBP6","FKRP","FKTN","FLI1","FLII","FOXE3","FOXL2","FZD4","GJA1","GJA8","GMPPB","GNPTAB","GORAB","GTF2E2","GTF2H5","GTF2I","GTF2IRD1","GTF2IRD2","HDAC8","HMGB3","HMX1","HSPG2","IQSEC2","JAG1","KCNMA1","KDM6A","KIF11","KIFBP","KMT2D","KRAS","LARGE1","LETM1","LIMK1","LMX1B","LTBP2","MAB21L2","MAF","MAFB","MAPRE2","MED25","METTL27","MIR184","MITF","MKS1","MLXIPL","MPLKIP","MT-CYB","NAA10","NCF1","NDP","NELFA","NHS","NIPBL","NSD2","OTX2","PAX6","PIGG","PIK3R1","PITX2","PITX3","PLK4","PLOD1","POMGNT1","POMGNT2","POMK","POMT1","POMT2","PPP2CA","PRDM5","PRR12","PRSS56","PXDN","PYCR1","RAB18","RAB23","RAB3GAP1","RAB3GAP2","RAD21","RAI1","RBP4","RECQL4","RFC2","RNF113A","RPGRIP1","RPGRIP1L","RSPO2","RXYLT1","SALL4","SC5D","SH3PXD2B","SLC16A12","SMC1A","SMC3","STX1A","TARS1","TBC1D20","TBL1XR1","TBL2","TBX15","TBX22","TCTN1","TCTN2","TCTN3","TEK","TENM3","TFAP2A","TINF2","TMEM107","TMEM216","TMEM231","TMEM237","TMEM270","TMEM67","TUBB","TXNDC15","UBE3B","VPS37D","WNT3","ZEB2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_VISUAL_FIELD_DEFECT":{"collection":"C5:HPO","systematicName":"M35139","pmid":"","exactSource":"HP:0001123","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001123","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VISUAL_FIELD_DEFECT","geneSymbols":["AARS1","ABCA4","ACO2","ADA2","ADGRV1","AGBL5","AIP","AIPL1","AIRE","AKT1","AKT3","ALMS1","AMACR","ANGPTL6","ARHGEF18","ARL3","ARL6","ARSG","ASB10","ATF6","ATP1A2","ATRX","BAP1","BBS1","BBS2","BEST1","BMPR1A","BRAF","BTD","C1QTNF5","CACNA1A","CACNA1F","CACNA2D4","CC2D2A","CCDC28B","CDH23","CDHR1","CEP78","CERKL","CFAP410","CFAP418","CFH","CFI","CHM","CIB2","CLCN2","CLRN1","CNGA1","CNGA3","CNGB1","CNGB3","CNNM4","COL18A1","COL25A1","COL3A1","COL4A1","CRX","CTNNB1","CWC27","CYP1B1","CYP4V2","DHDDS","DLAT","DNAJC30","DNM1L","EFEMP1","EIF2B3","ELOVL1","ELOVL4","ENG","EPCAM","ESPN","EYS","FA2H","FAM161A","FAN1","FDXR","FLVCR1","FXN","GNAQ","GNAT1","GNAT2","GPR101","GRK1","GUCY2D","HARS1","HGSNAT","HK1","HKDC1","HLA-A","HLA-B","HLA-DRB1","IBA57","IDH3A","IDH3B","IDS","IFT140","IFT172","IMPDH1","IMPG1","IMPG2","ITM2B","JAK2","KCNJ13","KCNV2","KIF21A","KIF3B","KIZ","KRAS","LCA5","LRAT","MAK","MEN1","MERTK","MFN2","MFSD8","MLH1","MLH3","MMP19","MPL","MSH2","MSH6","MSX2","MT-ATP6","MT-CO1","MT-CO2","MT-CO3","MT-CYB","MT-ND1","MT-ND2","MT-ND4","MT-ND4L","MT-ND5","MT-ND6","MT-TC","MT-TF","MT-TK","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TV","MT-TW","MTOR","MTRFR","MTTP","MYO7A","MYOC","NDUFS2","NF2","NR2E3","NR2F1","NR3C1","NRL","OAT","OFD1","OPA1","OPA3","P4HA2","PCDH15","PDE6A","PDE6C","PDE6G","PDE6H","PDGFB","PDZD7","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PEX7","PHOX2A","PIK3CA","PITPNM3","PMS1","PMS2","POC1B","POLG","POMGNT1","POU3F4","PROM1","PRORP","PRPF3","PRPF31","PRPF4","PRPF6","PRPF8","PRPH2","PRRT2","PTPN22","RAB28","RAX2","RBP3","RDH11","RDH5","REEP6","RGR","RHO","RLBP1","RNU4ATAC","ROM1","RP1","RP2","RP9","RPE65","RPGR","RPS20","RRM2B","RTN4IP1","SAG","SCN1A","SDHA","SEMA4A","SETD5","SH3BP2","SH3TC2","SLC25A46","SLC6A6","SLC7A14","SMARCB1","SMARCE1","SMO","SOST","SPATA7","SUFU","TERT","TGFBR2","TGFBR3","THPO","THSD1","TIMM8A","TIMP3","TMEM126A","TOPORS","TP53","TRAF7","TREX1","TRNT1","TUBA1A","TUBB2B","TUBB3","TULP1","UNC119","USH1C","USH1G","USH2A","USP48","USP8","VCAN","WFS1","WHRN","YARS1","ZNF408","ZNF513"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CRYPTOPHTHALMOS":{"collection":"C5:HPO","systematicName":"M35140","pmid":"","exactSource":"HP:0001126","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001126","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CRYPTOPHTHALMOS","geneSymbols":["FRAS1","FREM1","FREM2","GRIP1","MAB21L2","TWIST2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CORNEAL_DYSTROPHY":{"collection":"C5:HPO","systematicName":"M35141","pmid":"","exactSource":"HP:0001131","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001131","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CORNEAL_DYSTROPHY","geneSymbols":["AGBL1","AGK","CHRDL1","CHST6","COL17A1","COL8A2","CRYAA","CRYBA4","CRYBB1","CRYBB2","CRYGC","CRYGD","CYP4V2","DCN","EXOSC2","GJA8","GLA","GNAQ","GSN","KRT12","MAF","MBTPS2","OPN1LW","OPN1MW","PIKFYVE","PRDM5","SLC25A4","SLC4A11","TACSTD2","TGFBI","TKFC","TRIM37","UBIAD1","ZEB1","ZNF469"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LENS_SUBLUXATION":{"collection":"C5:HPO","systematicName":"M35142","pmid":"","exactSource":"HP:0001132","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001132","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LENS_SUBLUXATION","geneSymbols":["ASPH","BAP1","CBS","CHRDL1","COL18A1","COL2A1","CYSLTR2","ELP4","GNA11","GNAQ","LOXL1","P3H2","PCYT1A","SALL2","SF3B1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CONSTRICTION_OF_PERIPHERAL_VISUAL_FIELD":{"collection":"C5:HPO","systematicName":"M35143","pmid":"","exactSource":"HP:0001133","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001133","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONSTRICTION_OF_PERIPHERAL_VISUAL_FIELD","geneSymbols":["ABCA4","AGBL5","AIPL1","AIRE","ALMS1","AMACR","ARL3","ARL6","ARSG","BBS1","BBS2","CACNA2D4","CC2D2A","CCDC28B","CDHR1","CERKL","CFAP418","CHM","CLRN1","CNGA1","CNGB1","CRX","CWC27","CYP1B1","CYP4V2","DHDDS","DLAT","DNM1L","EFEMP1","ELOVL1","EYS","FAM161A","GNAT1","GUCY2D","HGSNAT","HK1","HKDC1","IDH3A","IDH3B","IDS","IFT140","IFT172","IMPDH1","KIF3B","KIZ","LCA5","LRAT","MERTK","MT-ATP6","MYOC","NR2E3","NRL","OAT","OFD1","OPA1","PDE6A","PDE6G","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PEX7","POC1B","POMGNT1","POU3F4","PROM1","PRPF31","PRPF4","PRPF6","PRPF8","PRPH2","RAX2","RBP3","RDH11","RDH5","REEP6","RGR","RHO","RLBP1","RNU4ATAC","ROM1","RP1","RP2","RP9","RPE65","RPGR","RRM2B","SAG","SDHA","SEMA4A","SH3BP2","SH3TC2","SLC6A6","SOST","SPATA7","TIMM8A","TMEM126A","TULP1","YARS1","ZNF408","ZNF513"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ANTERIOR_POLAR_CATARACT":{"collection":"C5:HPO","systematicName":"M46062","pmid":"","exactSource":"HP:0001134","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001134","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANTERIOR_POLAR_CATARACT","geneSymbols":["COL4A3","CRYGB","EBP","HS2ST1","HSF4","MIR184","TAOK1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RETINAL_ARTERIOLAR_TORTUOSITY":{"collection":"C5:HPO","systematicName":"M35145","pmid":"","exactSource":"HP:0001136","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001136","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETINAL_ARTERIOLAR_TORTUOSITY","geneSymbols":["ANTXR1","ARVCF","BAZ1B","BCL7B","BUD23","CLIP2","COL4A1","COMT","DNAJC30","EIF4H","ELN","FKBP6","FZD4","GP1BB","GTF2I","GTF2IRD1","GTF2IRD2","HIRA","JMJD1C","LIMK1","LRP5","METTL27","MLXIPL","MT-ATP6","NCF1","NDP","RFC2","RREB1","SEC24C","STX1A","TBL2","TBX1","TMEM270","UFD1","VPS37D"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ALTERNATING_ESOTROPIA":{"collection":"C5:HPO","systematicName":"M35146","pmid":"","exactSource":"HP:0001137","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001137","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ALTERNATING_ESOTROPIA","geneSymbols":["APC","CDC42BPB","CLCN6","COG8","DPP6","LMBRD2","LMNB1","MPDZ","PPP2R5D","SLC38A8"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_OPTIC_NEUROPATHY":{"collection":"C5:HPO","systematicName":"M35147","pmid":"","exactSource":"HP:0001138","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001138","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OPTIC_NEUROPATHY","geneSymbols":["ABCG5","ABCG8","AGXT","APOB","ATN1","BTD","CISD2","CLCN2","CYP1B1","CYP27A1","EFEMP1","FOXRED1","GP1BA","HLA-DRB1","LDLR","LDLRAP1","MT-ATP6","MT-CO3","MT-CYB","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND4L","MT-ND5","MT-ND6","MTRFR","MYOC","NDUFA1","NDUFA11","NDUFA13","NDUFA6","NDUFAF1","NDUFAF2","NDUFAF3","NDUFAF4","NDUFAF5","NDUFAF8","NDUFB10","NDUFB11","NDUFB3","NDUFB9","NDUFS1","NDUFS2","NDUFS3","NDUFS4","NDUFS6","NDUFS7","NDUFS8","NDUFV1","NDUFV2","NOTCH3","NUBPL","PCSK9","SH3BP2","TIMMDC1","TMEM126B","TMEM53","TSFM","TXN2","WDR11"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CHOROIDEREMIA":{"collection":"C5:HPO","systematicName":"M35148","pmid":"","exactSource":"HP:0001139","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001139","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHOROIDEREMIA","geneSymbols":["BEST1","CHM","EPHA2","IMPG1","IMPG2","POU3F4","PRPH2","UBE3B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LIMBAL_DERMOID":{"collection":"C5:HPO","systematicName":"M35149","pmid":"","exactSource":"HP:0001140","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001140","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIMBAL_DERMOID","geneSymbols":["AKT1","DACT1","FGFR1","KRAS","PTEN","SALL1","SF3B2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SEVERELY_REDUCED_VISUAL_ACUITY":{"collection":"C5:HPO","systematicName":"M35150","pmid":"","exactSource":"HP:0001141","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001141","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEVERELY_REDUCED_VISUAL_ACUITY","geneSymbols":["AIPL1","ALG3","C1QTNF5","CACNA1F","CEP290","CHST6","CNGB3","CRB1","CRX","CTNNB1","CYP4V2","FZD4","GDF6","GUCY2D","HPS1","IFT140","IMPDH1","IQCB1","KCNJ13","LCA5","LRAT","LRP5","NDP","NHS","NMNAT1","NPHP4","OFD1","OSTM1","PCYT1A","PROM1","RD3","RDH12","RPE65","RPGRIP1","SPATA7","STX3","TIMP3","TSPAN12","TUBB4B","TULP1","USP45","WFS1","ZNF408","ZNF513"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LENTICONUS":{"collection":"C5:HPO","systematicName":"M41231","pmid":"","exactSource":"HP:0001142","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001142","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LENTICONUS","geneSymbols":["COL4A3","COL4A4","COL4A5","COL4A6","CRYAB","LAMB2","PRPH2","RDH5","RHO","RLBP1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RETINAL_EXUDATE":{"collection":"C5:HPO","systematicName":"M35152","pmid":"","exactSource":"HP:0001147","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001147","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETINAL_EXUDATE","geneSymbols":["CTC1","FZD4","LRP5","NDP","POT1","TINF2","TREX1","TSPAN12","ZNF408"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_IMPAIRED_HORIZONTAL_SMOOTH_PURSUIT":{"collection":"C5:HPO","systematicName":"M35153","pmid":"","exactSource":"HP:0001151","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001151","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRED_HORIZONTAL_SMOOTH_PURSUIT","geneSymbols":["ATXN1","ATXN2","ATXN3","EEF2","POLR3B","RFC1","STXBP1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SACCADIC_SMOOTH_PURSUIT":{"collection":"C5:HPO","systematicName":"M35154","pmid":"","exactSource":"HP:0001152","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001152","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SACCADIC_SMOOTH_PURSUIT","geneSymbols":["ALS2","ANO10","ATN1","ATP2B3","CACNA1A","CACNA1G","FMR1","GJB1","KCND3","PIK3R5","PMPCA","PRDX3","PRKCG","RNF170","RUBCN","SCYL1","SETX","SPG11","STUB1","TMEM106B","TMEM240","TPP1","UCHL1","XRCC1","ZFYVE26"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SEPTATE_VAGINA":{"collection":"C5:HPO","systematicName":"M35155","pmid":"","exactSource":"HP:0001153","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001153","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEPTATE_VAGINA","geneSymbols":["BCOR","CCNQ","DHCR7","GATA3","HOXA13","INTU","MKKS","MNX1","TP63","UBR1","WT1","ZEB2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_HAND":{"collection":"C5:HPO","systematicName":"M47043","pmid":"","exactSource":"HP:0001155","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001155","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_HAND","geneSymbols":["AAAS","AAGAB","ABCA12","ABCA3","ABCC6","ABCC8","ABCC9","ABCD1","ABL1","ACAN","ACOX1","ACP5","ACSL4","ACTA1","ACTA2","ACTB","ACTC1","ACTG1","ACTG2","ACTL6B","ACTN2","ACVR1","ACVRL1","ADA2","ADAMTS10","ADAMTS2","ADAMTS3","ADAMTSL1","ADAMTSL2","ADAT3","ADGRG6","ADH5","ADNP","AEBP1","AFF2","AFF3","AFF4","AGO2","AGPAT2","AGRN","AHI1","AHSG","AIFM1","AIP","AK9","AKT1","AKT3","ALDH18A1","ALDH1A2","ALDH6A1","ALG12","ALG13","ALG14","ALG3","ALG6","ALG9","ALMS1","ALOX12B","ALOXE3","ALS2","ALX1","ALX3","ALX4","AMER1","AMMECR1","ANAPC1","ANKLE2","ANKRD1","ANKRD11","ANKRD55","ANO5","ANTXR2","AP1B1","AP1G1","AP4M1","APC","APC2","AQP5","ARCN1","ARHGAP31","ARHGEF2","ARID1A","ARID1B","ARID2","ARL13B","ARL3","ARL6","ARMC9","ARPC4","ARSB","ARSL","ARVCF","ARX","ASAH1","ASNS","ASPH","ASPN","ASXL1","ASXL2","ASXL3","ATAD1","ATG7","ATL1","ATL3","ATN1","ATP11A","ATP13A2","ATP2A2","ATP2B1","ATP6V0A2","ATP6V1B2","ATP6V1E1","ATP7A","ATP7B","ATR","ATRIP","ATRX","AUTS2","B3GALT6","B3GAT3","B3GLCT","B4GALT7","B9D1","B9D2","BAG3","BAG5","BANF1","BAP1","BAZ1B","BBIP1","BBS1","BBS10","BBS12","BBS2","BBS4","BBS5","BBS7","BBS9","BCL7B","BCOR","BCORL1","BCR","BGN","BHLHA9","BICD2","BICRA","BIN1","BLM","BLTP1","BMP1","BMP15","BMP2","BMP4","BMP6","BMPR1A","BMPR1B","BNC1","BPNT2","BPTF","BRAF","BRAT1","BRCA1","BRCA2","BRD4","BRF1","BRIP1","BSCL2","BTRC","BUB1","BUB1B","BUB3","BUD23","C1R","C2CD3","CACNA2D1","CADM3","CAMK2G","CAMTA1","CANT1","CAP2","CAPN3","CARD14","CASK","CAST","CASZ1","CAV1","CAV3","CAVIN1","CBFB","CBL","CBS","CBY1","CC2D2A","CCBE1","CCDC22","CCDC28B","CCDC32","CCDC47","CCDC8","CCDC88A","CCN2","CCN6","CCND2","CCNK","CCNQ","CCR6","CD244","CD247","CD28","CD4","CD55","CD96","CDC42","CDC42BPB","CDC45","CDC6","CDH11","CDH3","CDK10","CDK19","CDK5","CDKL5","CDKN1C","CDSN","CDT1","CENPE","CENPJ","CEP104","CEP120","CEP152","CEP19","CEP290","CEP41","CEP55","CEP57","CERS3","CFAP418","CFTR","CHCHD10","CHD1","CHD4","CHD7","CHN1","CHRNA1","CHRNA7","CHRNB1","CHRND","CHRNE","CHRNG","CHST11","CHST14","CHST3","CHSY1","CHUK","CIB1","CIBAR1","CIC","CIITA","CILK1","CITED2","CKAP2L","CLCF1","CLCN3","CLCN7","CLIC2","CLIP2","CLP1","CNOT1","CNOT2","CNOT3","CNTN1","CNTNAP1","COASY","COG1","COG4","COG5","COG6","COG7","COG8","COL10A1","COL11A1","COL11A2","COL12A1","COL13A1","COL14A1","COL17A1","COL1A1","COL1A2","COL25A1","COL27A1","COL2A1","COL3A1","COL5A1","COL5A2","COL6A1","COL6A2","COL6A3","COL7A1","COL9A1","COL9A2","COL9A3","COLQ","COMP","COMT","COPB1","COX14","COX4I1","COX7B","CPLANE1","CPLX1","CPT2","CREBBP","CRIPT","CRKL","CRLF1","CRPPA","CRYAB","CSGALNACT1","CSNK2A1","CSPP1","CSRP3","CST6","CSTA","CTBP1","CTC1","CTCF","CTDP1","CTLA4","CTNNB1","CTNND2","CTSB","CTSC","CTSD","CTSK","CTU2","CUL3","CUL4B","CUL7","CWC27","CWF19L1","CYP26B1","CYP27A1","CYP4F22","DACT1","DCHS1","DCTN1","DDR2","DDX11","DDX59","DDX6","DEAF1","DES","DGCR2","DGCR6","DGCR8","DHCR24","DHCR7","DHODH","DHPS","DHX30","DIS3L2","DKC1","DLG4","DLK1","DLL3","DLL4","DLX3","DLX4","DLX5","DLX6","DMD","DMXL2","DNA2","DNAJC21","DNAJC30","DNM1L","DNMT3A","DOCK3","DOCK6","DOK7","DOLK","DONSON","DPAGT1","DPF2","DPH1","DPH2","DPH5","DPM1","DPP9","DPYD","DPYS","DPYSL5","DSC2","DSE","DSG1","DSG2","DSP","DST","DVL1","DVL3","DYM","DYNC1H1","DYNC2H1","DYNC2I1","DYNC2I2","DYNC2LI1","DYNLT2B","DYRK1A","DYSF","EBF3","EBP","ECE1","ECEL1","EDA","EDA2R","EDN3","EDNRB","EED","EFEMP2","EFL1","EFNB1","EFTUD2","EGR2","EHMT1","EIF2AK3","EIF2AK4","EIF2S3","EIF4A3","EIF4H","ELN","EMC1","EMG1","EMILIN1","EN1","ENPP1","EOGT","EP300","EPB41L1","EPS15L1","ERBB2","ERBB3","ERCC1","ERCC2","ERCC4","ERCC5","ERCC6","ERCC8","ESCO2","ESS2","EVC","EVC2","EXOC6B","EXOSC2","EXOSC5","EXOSC9","EXT1","EXT2","EXTL3","EZH2","FAM13A","FAM149B1","FAM50A","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FARSA","FAT4","FBLN1","FBLN5","FBN1","FBN2","FBXL3","FBXO11","FBXO28","FBXO38","FBXW11","FBXW4","FCGR2A","FERMT1","FGD1","FGD4","FGF10","FGF16","FGF9","FGFR1","FGFR2","FGFR3","FGFRL1","FHL1","FHL2","FIBP","FIG4","FKBP6","FKTN","FLG","FLI1","FLII","FLNA","FLNB","FLNC","FLT4","FLVCR1","FMR1","FN1","FOS","FOXE3","FOXP1","FOXP2","FRA10AC1","FRAS1","FSHR","FTO","FTSJ1","FXN","FZD2","G6PC3","GABBR2","GABRA3","GABRD","GALNS","GALNT2","GAN","GARS1","GATA1","GATA2","GATA4","GATA5","GATA6","GATAD1","GATAD2B","GBF1","GDAP1","GDF1","GDF5","GDNF","GGCX","GJA1","GJA5","GJA8","GJB1","GJB2","GJB3","GJB4","GJB6","GLA","GLB1","GLDN","GLE1","GLI1","GLI2","GLI3","GLYCTK","GMNN","GMPPA","GNAI1","GNAO1","GNAS","GNAS-AS1","GNB1","GNB2","GNE","GNPTAB","GNPTG","GNS","GON7","GORAB","GP1BB","GPC3","GPC4","GPKOW","GPR101","GPR35","GPX4","GRB10","GRHL2","GRIK2","GRIN1","GRM7","GTF2I","GTF2IRD1","GTF2IRD2","GTPBP2","GUSB","GYG1","H19","H3-3A","H3-3B","H4C3","H4C5","H4C9","HACD1","HAND2","HARS1","HCCS","HDAC4","HDAC6","HDAC8","HEATR3","HECTD4","HEPACAM","HERC1","HERC2","HES7","HESX1","HEY2","HFE","HHAT","HIC1","HINT1","HIRA","HIVEP2","HK1","HLA-DRB1","HMGA2","HNRNPA1","HNRNPDL","HNRNPH1","HNRNPH2","HNRNPK","HNRNPR","HOXA11","HOXA13","HOXD13","HPGD","HRAS","HS2ST1","HSD17B4","HSPB1","HSPB3","HSPG2","HTT","HUWE1","HYAL1","HYLS1","HYOU1","IARS1","IARS2","IDH1","IDS","IDUA","IFIH1","IFITM5","IFT122","IFT140","IFT172","IFT27","IFT43","IFT52","IFT57","IFT74","IFT80","IGF1","IGF1R","IGF2","IGHMBP2","IHH","IKBKG","IL10","IL11RA","IL21","IL2RA","IL2RB","IL6ST","INF2","INPP5E","INPP5K","INPPL1","INSR","INTU","IPO8","IQCE","IQSEC2","IRF5","IRF6","IRX5","ITCH","ITGA7","ITGB4","ITGB6","ITPR3","IVNS1ABP","JAG1","JARID2","JMJD1C","JPH1","JPH2","JUP","KANK2","KANSL1","KAT6A","KAT6B","KAT8","KATNB1","KATNIP","KCNA1","KCNAB2","KCNE5","KCNH1","KCNJ11","KCNJ2","KCNJ5","KCNJ8","KCNK4","KCNK9","KCNMA1","KCNN3","KCTD1","KDF1","KDM1A","KDM4B","KDM5B","KDM5C","KDM6A","KDM6B","KDR","KDSR","KIAA0319L","KIAA0586","KIAA0753","KIAA0825","KIDINS220","KIF15","KIF1A","KIF21A","KIF22","KIF5A","KIF5C","KIF7","KIFBP","KIT","KL","KLF13","KLHL15","KLHL24","KLHL40","KLHL41","KLHL9","KLLN","KMT2A","KMT2B","KMT2C","KMT2D","KMT2E","KNSTRN","KPTN","KRAS","KRT1","KRT10","KRT14","KRT16","KRT17","KRT2","KRT5","KRT6A","KRT6B","KRT6C","KRT74","KRT83","KRT9","L1CAM","LAGE3","LAMA3","LAMA4","LAMA5","LAMB2","LAMB3","LAMC2","LARGE1","LARS1","LAS1L","LBR","LDB3","LEMD3","LETM1","LFNG","LHX3","LHX4","LIFR","LIG3","LIG4","LIMK1","LMBR1","LMNA","LMNB2","LMOD2","LMOD3","LMX1B","LONP1","LORICRIN","LOX","LRBA","LRP4","LRP5","LSS","LTBP1","LTBP2","LTBP3","LTBP4","LUZP1","LZTFL1","LZTR1","MACROH2A1","MAD2L2","MADD","MAF","MAFB","MAGEL2","MAN1B1","MAN2C1","MAP1B","MAP2K1","MAP2K2","MAP3K20","MAP3K7","MAPK1","MAPK8IP3","MAPRE2","MAPT","MARS1","MASP1","MAT2A","MATN3","MATR3","MB","MBD5","MBTPS1","MBTPS2","MCM3AP","MCOLN1","MCTP2","MECOM","MECP2","MED12","MED12L","MED13L","MED25","MEF2C","MEFV","MEG3","MEGF10","MEGF8","MEIS2","MEN1","MESP2","MET","METTL27","MFAP5","MFN2","MGAT2","MGP","MIA3","MIR140","MIR17HG","MITF","MKKS","MKRN3","MKS1","MLXIPL","MMP1","MMP14","MMP2","MMP23B","MOGS","MORC2","MPV17","MPZ","MRAS","MRPS22","MRPS28","MSH4","MSL3","MST1","MSX2","MT-TS1","MTFMT","MTHFS","MTM1","MTOR","MTX2","MUC5B","MUSK","MYBPC1","MYBPC3","MYCN","MYH11","MYH3","MYH6","MYH7","MYH8","MYL11","MYL2","MYLK","MYMK","MYMX","MYOD1","MYPN","MYSM1","NAA10","NAA20","NALCN","NANS","NARS1","NARS2","NBAS","NCF1","NCKAP1L","NDE1","NDN","NDRG1","NDUFB11","NEB","NECTIN1","NECTIN4","NEDD4L","NEFL","NEK1","NEK9","NELFA","NEPRO","NEUROD2","NEXMIF","NEXN","NF1","NFASC","NFIX","NFKBIL1","NGLY1","NHP2","NHS","NIN","NIPAL4","NIPBL","NKAP","NKX2-5","NKX2-6","NKX3-2","NLRP1","NLRP3","NOD2","NOG","NONO","NOP10","NOTCH1","NOTCH2","NPAP1","NPHP1","NPM1","NPR2","NPR3","NR2F1","NR5A1","NRAS","NRTN","NSD1","NSD2","NSDHL","NSUN2","NTNG1","NTRK1","NUP107","NUP133","NUP188","NUP37","NUP85","NUP88","NXN","OBSL1","OCA2","OCRL","ODC1","OFD1","OGT","OPA3","ORC1","ORC4","ORC6","OSGEP","OTUD5","OTUD6B","P3H1","P4HTM","PACS1","PACS2","PAFAH1B1","PAH","PAICS","PAK3","PALB2","PAPPA2","PARN","PAX1","PAX3","PCDHGC4","PCGF2","PCNT","PCYT1A","PDE3A","PDE4D","PDE6D","PDGFRB","PDHA1","PDK3","PDPN","PDXK","PEPD","PERP","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PEX7","PGAP2","PGAP3","PGM2L1","PHF21A","PHF6","PHF8","PHGDH","PHIP","PHOX2A","PHYH","PI4KA","PIBF1","PIEZO2","PIGA","PIGB","PIGF","PIGG","PIGH","PIGL","PIGN","PIGO","PIGP","PIGQ","PIGS","PIGV","PIGW","PIGY","PIK3C2A","PIK3CA","PIK3CD","PIK3R1","PIK3R2","PITX1","PKDCC","PKP1","PLAA","PLAG1","PLEC","PLEKHG5","PLK4","PLN","PLOD1","PLOD3","PLXND1","PMM2","PMP22","PNKP","PNPLA1","PNPLA2","PNPLA6","POC1A","POFUT1","POGLUT1","POGZ","POLA1","POLG","POLR3A","POLR3GL","POLR3H","POLRMT","POMP","POR","PORCN","POU1F1","PPARG","PPCS","PPM1D","PPP1R15B","PPP1R21","PPP2CA","PPP2R1A","PPP2R3C","PPP3CA","PQBP1","PRDM16","PRDM5","PRG4","PRIM1","PRKACA","PRKACB","PRKAR1A","PRKAR1B","PRKCZ","PRKD1","PRKDC","PRKG1","PRKG2","PRMT7","PROKR2","PROP1","PRR12","PRX","PSEN1","PSEN2","PSENEN","PSMB4","PSMB8","PSMB9","PSMC3IP","PSMD12","PTCH1","PTCH2","PTDSS1","PTEN","PTF1A","PTH1R","PTHLH","PTPN11","PTPN2","PTPN22","PTPRF","PTRH2","PUF60","PUM1","PWAR1","PWRN1","PYCR2","PYROXD1","QRICH1","RAB11B","RAB18","RAB23","RAB33B","RAB3GAP1","RAB3GAP2","RAC1","RAD21","RAD51","RAD51C","RAF1","RAI1","RAPSN","RASA2","RASGRP1","RB1","RBBP8","RBM10","RBM20","RBM28","RBM8A","RBPJ","RECQL","RECQL4","REEP1","RELN","RERE","RET","RETREG1","REV3L","RFC2","RFT1","RFWD3","RFX7","RHBDF2","RIGI","RIN2","RIPK4","RIPPLY2","RIT1","RLIM","RMRP","RNF13","RNF2","RNF216","RNU4ATAC","ROBO1","ROR2","RPGRIP1","RPGRIP1L","RPL10","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL3L","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS23","RPS24","RPS26","RPS27","RPS28","RPS29","RPS6KA3","RPS7","RRAS","RRAS2","RREB1","RRM2B","RSPO1","RSPO2","RSPRY1","RTEL1","RTL1","RTTN","RUNX2","RUSC2","RYR1","RYR3","SACS","SALL1","SALL4","SAMD9","SASH1","SATB1","SATB2","SBDS","SBF2","SC5D","SCAPER","SCARF2","SCLT1","SCN1B","SCN2A","SCN4A","SCN5A","SCN9A","SCNM1","SCUBE3","SCYL2","SDCCAG8","SDHA","SDHB","SDHC","SDHD","SDR9C7","SEC23B","SEC24C","SELENON","SEM1","SEMA3C","SEMA3D","SEMA3E","SEMA4D","SEMA5A","SEPSECS","SERPINA12","SERPINB7","SET","SETBP1","SETD1B","SETD2","SETD5","SF3B2","SF3B4","SFTPA1","SFTPA2","SFTPC","SGCD","SH2B1","SH3PXD2B","SHANK3","SHH","SHMT2","SHOC2","SHOX","SIAH1","SIGMAR1","SIK1","SIK3","SIL1","SIM1","SIN3A","SKI","SLC10A7","SLC12A6","SLC18A3","SLC22A4","SLC25A12","SLC25A21","SLC25A22","SLC25A24","SLC25A46","SLC26A2","SLC29A3","SLC2A10","SLC32A1","SLC34A2","SLC35A2","SLC35A3","SLC35B2","SLC35C1","SLC35D1","SLC39A13","SLC52A2","SLC52A3","SLC5A6","SLC6A17","SLC6A9","SLC9A6","SLC9A7","SLCO2A1","SLURP1","SLX4","SMAD2","SMAD3","SMAD4","SMARCA2","SMARCA4","SMARCAD1","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SMC1A","SMC3","SMC5","SMG9","SMO","SMOC1","SMPD4","SMS","SNAP29","SNIP1","SNORD115-1","SNORD116-1","SNRPB","SNRPN","SON","SOS1","SOS2","SOST","SOX11","SOX18","SOX4","SOX5","SOX6","SOX9","SP7","SPARC","SPART","SPECC1L","SPEG","SPEN","SPG11","SPIDR","SPOP","SPRED1","SPRED2","SPRTN","SPTBN1","SPTLC1","SPTLC2","SQSTM1","SRCAP","SRD5A3","SREBF1","SRP54","SRY","STAG1","STAG2","STAMBP","STAT4","STIM1","STK11","STN1","STS","STUB1","STX16","STX1A","STXBP1","SUFU","SULT2B1","SUMF1","SUPT16H","SUZ12","SVBP","SVIL","SYNE1","TAF1A","TAF6","TAFAZZIN","TAPT1","TASP1","TAT","TBC1D24","TBC1D2B","TBCE","TBCK","TBL1XR1","TBL2","TBR1","TBX1","TBX15","TBX2","TBX22","TBX3","TBX4","TBX5","TCAP","TCF12","TCF20","TCF4","TCTN1","TCTN2","TCTN3","TDO2","TELO2","TERC","TERT","TFAP2A","TFAP2B","TFE3","TFG","TGDS","TGFB1","TGFB2","TGFB3","TGFBR1","TGFBR2","TGM1","TGM5","THOC2","THSD4","TIA1","TIMM8A","TINF2","TK2","TLK2","TLL1","TMCO1","TMEM107","TMEM138","TMEM147","TMEM216","TMEM218","TMEM231","TMEM237","TMEM270","TMEM53","TMEM67","TMEM70","TMEM94","TMPO","TNFRSF1B","TNNC1","TNNI2","TNNI3","TNNT2","TNNT3","TOE1","TOGARAM1","TONSL","TOPORS","TOR1A","TOR1AIP1","TP53RK","TP63","TPM1","TPM2","TPM3","TPR","TPRKB","TRAIP","TRAPPC11","TRAPPC2","TRAPPC9","TREX1","TRIM2","TRIM32","TRIM37","TRIM8","TRIO","TRIP11","TRIP13","TRMT10A","TRPM3","TRPM4","TRPS1","TRPV3","TRPV4","TRRAP","TSEN15","TSEN2","TSEN34","TSEN54","TSR2","TTC21B","TTC26","TTC8","TTN","TUBA1A","TUBB","TUBB2B","TUBB3","TWIST1","TWIST2","TXNDC15","TXNRD2","TYMP","TYMS","TYROBP","UBA1","UBA2","UBE2T","UBE3A","UBE3B","UBE4B","UBR1","UBR7","UFC1","UFD1","UFSP2","UNC80","UPF3B","UROS","USB1","USF3","USP7","USP9X","VAC14","VCL","VCP","VEZF1","VPS13B","VPS33A","VPS33B","VPS35L","VPS37D","VPS51","WAC","WASF1","WASHC5","WDPCP","WDR11","WDR19","WDR35","WDR37","WDR4","WDR73","WDR81","WFS1","WIPI2","WLS","WNK1","WNT10A","WNT10B","WNT5A","WNT7A","WRAP53","WRN","WWOX","XRCC2","XRCC4","XYLT1","XYLT2","YARS1","YRDC","YWHAE","YY1","YY1AP1","ZBTB20","ZC4H2","ZDHHC9","ZEB2","ZFPM2","ZIC1","ZIC3","ZMIZ1","ZMPSTE24","ZMYM2","ZNF141","ZNF292","ZNF407","ZNF423","ZNF462","ZNF469","ZNF668","ZNF699","ZNHIT3","ZSWIM7"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BRACHYDACTYLY":{"collection":"C5:HPO","systematicName":"M35156","pmid":"","exactSource":"HP:0001156","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001156","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BRACHYDACTYLY","geneSymbols":["ACAN","ADAMTS10","ADAMTS17","ADNP","AFF4","AHSG","AIFM1","AKT1","ALG6","ALG8","ALX1","ALX3","ANTXR2","APC2","ARHGAP31","ARID1A","ARID2","ARL6","ATP6V1B2","ATP7A","ATRX","B3GLCT","BAP1","BBIP1","BBS1","BBS4","BBS5","BBS9","BGN","BHLHA9","BMP2","BMP4","BMPR1B","BPNT2","BRAF","C12orf57","CAMK2G","CANT1","CASZ1","CBL","CCDC22","CCDC28B","CCDC32","CDH11","CEP120","CEP55","CHD7","CHN1","CHRNA7","CHST11","CHST3","CHSY1","CILK1","CITED2","COL11A1","COL11A2","COL2A1","COMP","CPLANE1","CRIPT","CSGALNACT1","CSNK2A1","CSPP1","CTSK","CUL4B","CWC27","DBH","DCPS","DDX3X","DEAF1","DHCR7","DLL4","DOCK6","DONSON","DPF2","DPH2","DPYSL5","DVL1","DVL3","DYM","DYNC2H1","DYNC2I1","DYNC2I2","DYNC2LI1","DYNLT2B","EFNB1","EHMT1","EOGT","EPB41L1","ERF","ESCO2","EVC","EVC2","EXOSC2","EXT1","EXTL3","FAM111A","FAM149B1","FAM20C","FBN1","FBXO28","FBXW11","FGD1","FGF9","FGFR1","FGFR2","FGFR3","FLII","FLNA","FLNB","FLT4","FTO","FZD2","GABRD","GATA1","GATA4","GATA5","GATA6","GDF1","GDF5","GDF6","GHR","GJA1","GJA5","GJA8","GJB3","GJB4","GLI3","GNAS","GNAS-AS1","GNB2","GPC4","GPX4","GRB10","HDAC4","HEATR3","HHAT","HNRNPR","HOXA13","HOXD13","HRAS","HSPG2","HUWE1","IARS2","IFT122","IFT140","IFT172","IFT43","IFT52","IFT57","IFT80","IFT81","IGF2","IHH","INPP5K","INPPL1","IQSEC2","ITGB6","JAG1","KAT6A","KAT6B","KCNAB2","KCNJ2","KCNK4","KDM1A","KDM5C","KDM6A","KDR","KDSR","KIAA0586","KIAA0753","KIF15","KIF26A","KIF7","KLF13","KLLN","KRAS","LBR","LIFR","LIG4","LMNA","LONP1","LSS","LTBP1","LTBP2","LTBP3","LUZP1","LZTFL1","LZTR1","MACROH2A1","MAF","MAFB","MAGEL2","MAP2K1","MAP3K7","MARS1","MBTPS1","MED12","MEGF8","MGAT2","MIR140","MIR17HG","MKKS","MMP23B","MRAS","MRPS16","MSX2","MYCN","MYMK","MYMX","MYSM1","NBAS","NEK1","NEPRO","NIN","NKX2-5","NKX2-6","NLRP3","NOG","NOTCH1","NOTCH2","NPR2","NRAS","NSUN2","NXN","OFD1","PAH","PAPSS2","PAX3","PCNT","PCYT1A","PDE3A","PDE4D","PDE6D","PDGFRB","PDPN","PGM3","PIGK","PIGL","PIGN","PIGS","PIK3CA","PIK3R1","PITX1","PLCB3","PLXND1","PNPLA6","POC1A","POGZ","POMP","POP1","POR","PORCN","PPM1D","PPP1CB","PPP3CA","PRDM16","PRKACB","PRKAR1A","PRKAR1B","PRKCZ","PRMT7","PTCH1","PTCH2","PTDSS1","PTEN","PTH1R","PTHLH","PTPN11","PUF60","RAB23","RAD21","RAF1","RAI1","RASA2","RB1","RBBP8","RBPJ","RDH11","RERE","REV3L","RHOA","RIN2","RIT1","RLIM","RMRP","RNU4ATAC","ROR2","RPS6KA3","RRAS","RRAS2","RSPRY1","RUNX2","SALL4","SCNM1","SCUBE3","SDHB","SDHC","SDHD","SEC23B","SEMA3E","SH3PXD2B","SHOC2","SHOX","SIK3","SIL1","SIN3A","SKI","SLC26A2","SLC2A1","SLC35C1","SLC35D1","SLURP1","SMAD4","SMARCA2","SMARCD2","SMC1A","SMC3","SMG9","SNRPN","SNX14","SOS1","SOS2","SPART","SPECC1L","SPEN","SPRED2","SRCAP","STAMBP","STX16","SUFU","TASP1","TBX1","TBX15","TBX22","TCF12","TCTN3","TELO2","TFAP2B","TGFBR2","TLK2","TMEM216","TMEM67","TNNT3","TONSL","TOPORS","TRIO","TRIP11","TRPS1","TRPV4","TTC21B","TWIST1","TWIST2","UBE4B","UPF3B","USF3","VPS35L","WAC","WASHC5","WDR11","WDR19","WDR35","WNT4","WNT5A","YY1AP1","ZDHHC9","ZFPM2","ZIC1","ZMIZ1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SYNDACTYLY":{"collection":"C5:HPO","systematicName":"M35157","pmid":"","exactSource":"HP:0001159","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001159","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SYNDACTYLY","geneSymbols":["ABCC9","ADAMTS3","ADNP","AKT1","ALDH1A2","ANKRD11","AP1G1","AP2M1","APC","APC2","ARCN1","ARHGAP31","ARL6","ARL6IP6","ASXL1","ATP6V1B2","ATP9A","B3GLCT","BAP1","BBIP1","BBS1","BBS10","BBS12","BBS2","BBS4","BBS5","BBS7","BBS9","BCOR","BCR","BHLHA9","BICRA","BLM","BLTP1","BMP2","BMP4","BMPR1B","BMS1","BRCA1","BRCA2","BRD4","BRIP1","BTRC","CACNA1C","CACNA1G","CAMTA1","CCBE1","CCDC22","CCDC28B","CCND2","CCNQ","CD96","CDAN1","CDC45","CDH1","CDH11","CDH3","CDIN1","CDKN1C","CEP120","CEP19","CEP290","CEP55","CERT1","CFAP418","CHD2","CHRNG","CHSY1","CHUK","CILK1","CKAP2L","CLCF1","CNOT2","CNTNAP1","CPLANE1","CREBBP","CRIPT","CRKL","CSGALNACT1","CTCF","CTNND1","CTNND2","CUL4B","DACT1","DCHS1","DDX11","DDX6","DEAF1","DHCR7","DHODH","DLL3","DLL4","DLX5","DLX6","DOCK6","DPYSL5","DSP","DVL1","DVL3","DYNC2H1","DYNC2I1","DYNC2I2","DYNC2LI1","DYRK1A","EBP","EED","EFNB1","EN1","EOGT","EP300","EPS15L1","ERCC4","ESCO2","EZH2","FAM149B1","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FAT4","FBLN1","FBXW11","FBXW4","FDFT1","FERMT1","FGD1","FGF10","FGF16","FGF9","FGFR1","FGFR2","FGFR3","FIG4","FLI1","FLII","FLNA","FLNB","FRAS1","FREM2","FZD2","GABRA3","GDF5","GJA1","GLI3","GNA11","GNE","GPC3","GPC4","GRB10","GRIP1","H3-3A","H4C9","HDAC4","HDAC8","HEPHL1","HERC2","HES7","HMGA2","HOXA11","HOXD13","IFT122","IFT140","IFT172","IFT27","IFT43","IFT52","IFT74","IFT80","IFT81","IGF2","IKBKG","IL11RA","IQCE","IQSEC2","IRF6","IRX5","ITGB4","JARID2","JUP","KAT6A","KCNJ2","KCNJ5","KCNJ8","KCTD1","KDM6B","KIAA0753","KIF7","KIFBP","KMT2A","KMT2B","LAMA3","LAMB3","LAMC2","LEMD3","LFNG","LIG4","LMBR1","LMNA","LRP4","LTBP1","LZTFL1","MAB21L2","MAD2L2","MAGEL2","MAN1B1","MAP3K20","MAPK1","MAPKAPK5","MAPRE2","MARS2","MCTP2","MECOM","MECP2","MED12","MED13L","MED25","MEF2C","MEGF8","MEIS2","MESP2","MIR17HG","MKKS","MKRN3","MKS1","MRPS28","MTRR","MYCN","MYH3","MYH8","MYRF","NAA10","NARS1","NBAS","NBN","NECTIN1","NECTIN4","NEDD4L","NEK1","NEK9","NEXMIF","NIPBL","NOG","NOTCH1","NPAP1","NPHP1","NSD1","NSDHL","NSUN2","NXN","OFD1","ORC1","OTUD6B","PALB2","PAX3","PDE6D","PHF21A","PHGDH","PHIP","PIBF1","PIEZO2","PIGY","PIK3CA","PITX1","PLAG1","PLEC","PLXND1","PNPLA6","POLR3A","POLR3GL","PORCN","PPP1R12A","PPP2R3C","PRKD1","PSAT1","PSMD12","PTDSS1","PTEN","PUF60","PWAR1","PWRN1","RAB23","RAD21","RAD51","RAD51C","RAI1","RALA","RB1","RBBP8","RBM10","RBM8A","RBPJ","RERE","REV3L","RFWD3","RFX7","RHOA","RIPK4","RIPPLY2","ROR2","RPL10","RTTN","SALL1","SALL4","SATB1","SBF1","SC5D","SCAPER","SCARF2","SCLT1","SCN1A","SCNM1","SDCCAG8","SEM1","SEMA5A","SETBP1","SETD2","SETD5","SF3B4","SHANK3","SHH","SHMT2","SIK3","SIN3A","SLC12A2","SLC12A6","SLC25A24","SLC2A1","SLC39A8","SLC6A1","SLX4","SMAD2","SMAD4","SMARCAD1","SMC1A","SMC3","SMO","SMOC1","SNORD115-1","SNORD116-1","SOST","SOX5","SPECC1L","STAG1","SUZ12","SVBP","SYNGAP1","SYT1","TBC1D24","TBCK","TBR1","TBX15","TBX22","TBX5","TCTN3","TELO2","TFAP2B","TGFBR2","TMEM216","TMEM231","TMEM53","TMEM94","TOPORS","TP63","TRIM32","TRIO","TRMT5","TRRAP","TTC21B","TTC26","TTC8","TTI2","TWIST1","TWIST2","TXNDC15","TXNL4A","UBA2","UBE2A","UBE2T","UBE3A","VAC14","VPS13B","VPS35L","WASHC5","WDPCP","WDR19","WDR35","WLS","WNT10B","WNT5A","WNT7A","XRCC2","XYLT1","YY1AP1","ZEB2","ZMIZ1","ZNF699","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HAND_POLYDACTYLY":{"collection":"C5:HPO","systematicName":"M41232","pmid":"","exactSource":"HP:0001161","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001161","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HAND_POLYDACTYLY","geneSymbols":["ABCA12","ACOX1","AHI1","AKT3","ALX3","ARL13B","ARL3","ARL6","ARMC9","ARVCF","B9D1","B9D2","BBIP1","BBS1","BBS10","BBS12","BBS2","BBS4","BBS5","BBS7","BBS9","BHLHA9","BLM","BMPR1B","C2CD3","CBY1","CC2D2A","CCDC22","CCDC28B","CCND2","CD96","CDC45","CEP104","CEP120","CEP19","CEP290","CEP41","CFAP418","CHD7","CHN1","CHSY1","CIBAR1","COMT","CPLANE1","CPLX1","CSPP1","CTBP1","DACT1","DDX59","DEAF1","DHCR7","DPYSL5","DYNC2H1","DYNC2I1","DYNC2I2","DYNC2LI1","DYNLT2B","EBP","EFNB1","EFTUD2","EVC","EVC2","EXTL3","FAM149B1","FANCB","FANCD2","FGFR2","FGFRL1","FLI1","FLII","FLNA","GDF5","GJA1","GLI1","GLI2","GLI3","GP1BB","GPC3","GPC4","HEATR3","HEPACAM","HESX1","HIRA","HOXA13","HOXD13","HYLS1","IFT140","IFT172","IFT27","IFT74","IFT80","INPP5E","IQCE","IQSEC2","JMJD1C","KATNIP","KIAA0586","KIAA0753","KIAA0825","KIF7","LBR","LETM1","LHX3","LHX4","LMBR1","LZTFL1","MAFB","MAP3K20","MBTPS2","MEGF8","MKKS","MKS1","NEK1","NELFA","NPHP1","NSD2","OFD1","OTUD5","PDE6D","PHF8","PIBF1","PIGG","PIK3CA","PIK3R2","PLAA","PNPLA6","PORCN","POU1F1","PRKACA","PRKACB","PROP1","PTEN","PUF60","RAB23","RAI1","RBM10","RPGRIP1","RPGRIP1L","RREB1","SALL1","SALL4","SC5D","SCAPER","SCLT1","SCNM1","SDCCAG8","SEC24C","SETBP1","SH2B1","SHH","SMO","SMOC1","SUFU","TBX1","TBX3","TCTN1","TCTN2","TCTN3","TFAP2A","TFAP2B","TGFBR1","TMCO1","TMEM107","TMEM138","TMEM216","TMEM218","TMEM231","TMEM237","TMEM67","TOGARAM1","TOPORS","TRIM32","TTC21B","TTC8","TWIST1","TXNDC15","UFD1","VPS35L","WASHC5","WDPCP","WDR19","WDR35","WNT7A","ZIC3","ZNF141","ZNF423","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_POSTAXIAL_HAND_POLYDACTYLY":{"collection":"C5:HPO","systematicName":"M35158","pmid":"","exactSource":"HP:0001162","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001162","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POSTAXIAL_HAND_POLYDACTYLY","geneSymbols":["AKT3","ALX3","ARL6","ARMC9","B9D1","B9D2","BBIP1","BBS1","BBS10","BBS12","BBS2","BBS4","BBS5","BBS7","BBS9","BHLHA9","BMPR1B","C2CD3","CC2D2A","CCDC28B","CCND2","CD96","CEP120","CEP19","CEP290","CFAP418","CIBAR1","CPLANE1","CSPP1","DDX59","DHCR7","DYNC2H1","DYNC2I1","DYNC2I2","DYNC2LI1","DYNLT2B","EVC","EVC2","FGFR2","FLNA","GDF5","GLI2","GLI3","GPC3","GPC4","HOXA13","HYLS1","IFT140","IFT172","IFT27","IFT74","IFT80","INPP5E","IQCE","KIAA0753","KIAA0825","KIF7","LBR","LMBR1","LZTFL1","MBTPS2","MEGF8","MKKS","MKS1","NEK1","NPHP1","OFD1","OTUD5","PDE6D","PIK3R2","PLAA","PORCN","PRKACB","RAB23","RPGRIP1","RPGRIP1L","SC5D","SCAPER","SCLT1","SCNM1","SDCCAG8","SETBP1","SMO","SMOC1","SUFU","TBX3","TCTN1","TCTN2","TCTN3","TGFBR1","TMCO1","TMEM107","TMEM216","TMEM231","TMEM237","TMEM67","TRIM32","TTC21B","TTC8","TXNDC15","WDPCP","WDR19","WDR35","WNT7A","ZNF141"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ARACHNODACTYLY":{"collection":"C5:HPO","systematicName":"M43260","pmid":"","exactSource":"HP:0001166","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001166","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ARACHNODACTYLY","geneSymbols":["ABL1","ACTA2","ACTG2","AEBP1","ALG14","AMER1","ARVCF","ASPH","ASXL3","ATP2B1","B3GALT6","B4GALT7","BCR","BGN","BMP1","BMP15","BNC1","C1R","CBS","CHRNG","CHST14","CIC","CNTN1","COL11A1","COL2A1","COMT","CPLX1","CRKL","CTBP1","CTSC","CYP26B1","DLG4","DPAGT1","DSE","EFEMP2","ELN","FARSA","FBLN5","FBN1","FBN2","FGFR2","FGFR3","FLNA","FOXE3","FSHR","GP1BB","H3-3B","HERC1","HEY2","HIRA","HNRNPH1","HNRNPH2","IPO8","JMJD1C","KANSL1","LAGE3","LETM1","LOX","MAPK1","MAT2A","MED12","MFAP5","MRPS22","MSH4","MTM1","MYH11","MYLK","NALCN","NARS1","NELFA","NKAP","NPR2","NPR3","NR5A1","NSD2","NUP107","OSGEP","OTUD6B","PAPPA2","PEPD","PHF8","PIEZO2","PIGG","PLOD1","POLR3H","POR","PQBP1","PRDM5","PRKG1","PSMC3IP","PTCH1","PTCH2","PYCR2","RECQL","RREB1","SATB2","SCARF2","SEC24C","SH2B1","SIN3A","SKI","SLC2A10","SMAD2","SMAD3","SMAD4","SMARCE1","SMS","SON","SOX6","SPIDR","STUB1","SUFU","TBX1","TGFB2","TGFB3","TGFBR1","TGFBR2","THSD4","UBE3B","UFD1","UNC80","UPF3B","VPS13B","XYLT2","YRDC","ZDHHC9","ZEB2","ZNF469","ZSWIM7"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_FINGER_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M35160","pmid":"","exactSource":"HP:0001167","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001167","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FINGER_MORPHOLOGY","geneSymbols":["ABCA12","ABCA3","ABCC8","ABCC9","ABCD1","ABL1","ACAN","ACOX1","ACP5","ACSL4","ACTA1","ACTA2","ACTB","ACTG1","ACTG2","ACTL6B","ACVR1","ADA2","ADAMTS10","ADAMTS2","ADAMTS3","ADAMTSL1","ADAMTSL2","ADAT3","ADGRG6","ADH5","ADNP","AEBP1","AFF2","AGO2","AHI1","AIFM1","AIP","AKT1","AKT3","ALDH18A1","ALDH1A2","ALG12","ALG13","ALG14","ALG3","ALG6","ALG9","ALMS1","ALOX12B","ALOXE3","ALX1","ALX3","ALX4","AMER1","AMMECR1","ANAPC1","ANKLE2","ANKRD11","ANO5","ANTXR2","AP1G1","AP4M1","APC","APC2","ARHGAP31","ARHGEF2","ARID1A","ARID1B","ARID2","ARL13B","ARL3","ARL6","ARMC9","ARPC4","ARSL","ARVCF","ARX","ASAH1","ASPH","ASPN","ASXL1","ASXL3","ATAD1","ATG7","ATL3","ATN1","ATP11A","ATP13A2","ATP2B1","ATP6V1B2","ATP7A","ATR","ATRIP","ATRX","AUTS2","B3GALT6","B3GAT3","B3GLCT","B4GALT7","B9D1","B9D2","BANF1","BAP1","BAZ1B","BBIP1","BBS1","BBS10","BBS12","BBS2","BBS4","BBS5","BBS7","BBS9","BCL7B","BCOR","BCORL1","BCR","BGN","BHLHA9","BICD2","BICRA","BIN1","BLM","BLTP1","BMP1","BMP15","BMP2","BMP4","BMPR1A","BMPR1B","BNC1","BPNT2","BPTF","BRAF","BRAT1","BRCA1","BRCA2","BRD4","BRF1","BRIP1","BUB1","BUB1B","BUB3","BUD23","C1R","C2CD3","CANT1","CAPN3","CASK","CASZ1","CBFB","CBL","CBS","CBY1","CC2D2A","CCBE1","CCDC22","CCDC28B","CCDC32","CCDC47","CCDC8","CCDC88A","CCN6","CCND2","CCNK","CCNQ","CD244","CD55","CD96","CDC42","CDC42BPB","CDC45","CDC6","CDH11","CDKL5","CDKN1C","CDT1","CENPE","CENPJ","CEP104","CEP120","CEP152","CEP19","CEP290","CEP41","CEP55","CEP57","CFAP418","CFTR","CHD1","CHD4","CHD7","CHN1","CHRNA1","CHRNA7","CHRND","CHRNG","CHST11","CHST14","CHST3","CHSY1","CHUK","CIBAR1","CIC","CIITA","CILK1","CITED2","CKAP2L","CLCF1","CLCN3","CLCN7","CLIC2","CLIP2","CLP1","CNOT1","CNOT2","CNOT3","CNTN1","COASY","COG1","COG4","COG5","COG7","COG8","COL10A1","COL11A1","COL11A2","COL12A1","COL1A1","COL1A2","COL25A1","COL27A1","COL2A1","COL3A1","COL5A1","COL5A2","COL6A1","COL6A2","COL6A3","COMP","COMT","COPB1","COX4I1","CPLANE1","CPLX1","CPT2","CREBBP","CRIPT","CRKL","CRLF1","CRPPA","CSGALNACT1","CSNK2A1","CSPP1","CTBP1","CTCF","CTDP1","CTNNB1","CTSC","CTSK","CTU2","CUL3","CUL4B","CUL7","CWC27","CWF19L1","CYP26B1","CYP27A1","DACT1","DDR2","DDX11","DDX59","DDX6","DEAF1","DHCR7","DHODH","DHPS","DHX30","DLG4","DLK1","DLL3","DLL4","DLX3","DLX5","DMXL2","DNA2","DNAJC21","DNAJC30","DNM1L","DNMT3A","DOCK3","DOCK6","DOK7","DONSON","DPAGT1","DPF2","DPH2","DPH5","DPP9","DPYS","DPYSL5","DSE","DSP","DVL1","DVL3","DYM","DYNC2H1","DYNC2I1","DYNC2I2","DYNC2LI1","DYNLT2B","DYRK1A","EBF3","EBP","ECE1","ECEL1","EDA","EDA2R","EDN3","EDNRB","EED","EFEMP2","EFL1","EFNB1","EFTUD2","EHMT1","EIF2AK3","EIF2AK4","EIF2S3","EIF4A3","EIF4H","ELN","EMC1","EMG1","EN1","EOGT","EP300","EPB41L1","ERBB2","ERBB3","ERCC1","ERCC2","ERCC4","ERCC5","ERCC6","ERCC8","ESCO2","EVC","EVC2","EXOC6B","EXOSC2","EXOSC5","EXOSC9","EXT1","EXT2","EXTL3","EZH2","FAM13A","FAM149B1","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FARSA","FAT4","FBLN5","FBN1","FBN2","FBXO11","FBXO28","FBXW11","FCGR2A","FERMT1","FGD1","FGF10","FGF16","FGF9","FGFR1","FGFR2","FGFR3","FGFRL1","FIBP","FIG4","FKBP6","FKTN","FLI1","FLII","FLNA","FLNB","FLT4","FLVCR1","FN1","FOXE3","FOXP1","FOXP2","FRA10AC1","FRAS1","FSHR","FTO","FTSJ1","FZD2","G6PC3","GABRA3","GABRD","GATA1","GATA2","GATA4","GATA5","GATA6","GATAD2B","GDAP1","GDF1","GDF5","GDNF","GGCX","GJA1","GJA5","GJA8","GJB3","GJB4","GJB6","GLDN","GLI1","GLI2","GLI3","GMNN","GNAI1","GNAO1","GNAS","GNB1","GNB2","GNPTAB","GON7","GORAB","GP1BB","GPC3","GPC4","GPKOW","GPR101","GPX4","GRB10","GRIN1","GRM7","GTF2I","GTF2IRD1","GTF2IRD2","H19","H3-3A","H3-3B","H4C3","H4C5","H4C9","HACD1","HDAC4","HDAC8","HEATR3","HECTD4","HEPACAM","HERC1","HERC2","HES7","HESX1","HEY2","HHAT","HIC1","HINT1","HIRA","HIVEP2","HMGA2","HNRNPH1","HNRNPH2","HNRNPK","HNRNPR","HOXA11","HOXA13","HOXD13","HPGD","HRAS","HS2ST1","HSPG2","HUWE1","HYAL1","HYLS1","HYOU1","IARS1","IARS2","IDH1","IDS","IDUA","IFIH1","IFITM5","IFT122","IFT140","IFT172","IFT27","IFT43","IFT52","IFT57","IFT74","IFT80","IGF1","IGF1R","IGF2","IGHMBP2","IHH","IKBKG","IL10","IL11RA","IL21","IL6ST","INPP5E","INPP5K","INPPL1","INTU","IPO8","IQCE","IQSEC2","IRX5","ITGA7","JAG1","JARID2","JMJD1C","JUP","KANSL1","KAT6A","KAT6B","KAT8","KATNB1","KATNIP","KCNA1","KCNAB2","KCNE5","KCNH1","KCNJ11","KCNJ2","KCNJ8","KCNK4","KCNK9","KCNN3","KCTD1","KDM1A","KDM4B","KDM5B","KDM5C","KDM6A","KDM6B","KDR","KDSR","KIAA0586","KIAA0753","KIAA0825","KIF15","KIF1A","KIF21A","KIF22","KIF7","KIFBP","KLF13","KLHL40","KLHL41","KMT2A","KMT2B","KMT2C","KMT2D","KMT2E","KNSTRN","KPTN","KRAS","KRT1","KRT14","KRT16","KRT9","L1CAM","LAGE3","LAMA3","LAMA5","LAMB3","LAMC2","LARS1","LAS1L","LBR","LEMD3","LETM1","LFNG","LHX3","LHX4","LIFR","LIG4","LIMK1","LMBR1","LMNA","LMNB2","LMOD3","LMX1B","LONP1","LOX","LRBA","LRP4","LTBP1","LTBP2","LUZP1","LZTFL1","LZTR1","MACROH2A1","MAD2L2","MADD","MAF","MAFB","MAGEL2","MAN1B1","MAN2C1","MAP1B","MAP2K1","MAP3K20","MAP3K7","MAPK1","MAPK8IP3","MAPRE2","MASP1","MAT2A","MATN3","MBD5","MBTPS2","MCTP2","MECOM","MECP2","MED12","MED12L","MED25","MEF2C","MEG3","MEGF10","MEGF8","MEIS2","MESP2","MET","METTL27","MFAP5","MGAT2","MGP","MIA3","MIR17HG","MITF","MKKS","MKRN3","MKS1","MLXIPL","MMP2","MMP23B","MOGS","MORC2","MRAS","MRPS22","MRPS28","MSH4","MSL3","MSX2","MTHFS","MTM1","MTOR","MTX2","MUC5B","MUSK","MYBPC1","MYCN","MYH11","MYH3","MYH8","MYL11","MYL2","MYLK","MYMK","MYMX","MYOD1","NAA10","NAA20","NALCN","NARS1","NARS2","NCF1","NCKAP1L","NDE1","NEB","NEDD4L","NEFL","NEK1","NEK9","NELFA","NEPRO","NEUROD2","NEXMIF","NFASC","NFIX","NFKBIL1","NGLY1","NHS","NIN","NIPBL","NKAP","NKX2-5","NKX2-6","NKX3-2","NLRP1","NLRP3","NOD2","NOG","NONO","NOTCH1","NOTCH2","NPAP1","NPHP1","NPR2","NPR3","NR2F1","NR5A1","NRAS","NRTN","NSD1","NSD2","NSDHL","NSUN2","NUP107","NUP133","NUP37","NUP85","NUP88","NXN","OBSL1","OCRL","ODC1","OFD1","OGT","OPA3","ORC1","ORC4","ORC6","OSGEP","OTUD5","OTUD6B","P4HTM","PACS1","PACS2","PAFAH1B1","PAH","PAICS","PAK3","PALB2","PAPPA2","PARN","PAX1","PAX3","PCDHGC4","PCGF2","PCNT","PCYT1A","PDE3A","PDE4D","PDE6D","PDGFRB","PDPN","PEPD","PEX1","PEX5","PEX6","PGAP2","PGAP3","PHF21A","PHF6","PHF8","PHGDH","PHIP","PHOX2A","PI4KA","PIBF1","PIEZO2","PIGA","PIGB","PIGF","PIGG","PIGH","PIGL","PIGN","PIGO","PIGP","PIGQ","PIGS","PIGV","PIGW","PIGY","PIK3C2A","PIK3CA","PIK3CD","PIK3R1","PIK3R2","PITX1","PKDCC","PLAA","PLAG1","PLK4","PLOD1","PLOD3","PLXND1","PMM2","PNKP","PNPLA6","POC1A","POGZ","POLA1","POLR3A","POLR3GL","POLR3H","POR","PORCN","POU1F1","PPP1R15B","PPP1R21","PPP2R1A","PPP2R3C","PQBP1","PRDM16","PRDM5","PRG4","PRIM1","PRKACA","PRKACB","PRKAR1A","PRKAR1B","PRKCZ","PRKD1","PRKDC","PRKG1","PRKG2","PRMT7","PROKR2","PROP1","PRR12","PSMB4","PSMB8","PSMB9","PSMC3IP","PSMD12","PTCH1","PTCH2","PTDSS1","PTEN","PTF1A","PTH1R","PTHLH","PTPN11","PTPN22","PTRH2","PUF60","PUM1","PWAR1","PWRN1","PYCR2","PYROXD1","QRICH1","RAB11B","RAB18","RAB23","RAB33B","RAB3GAP1","RAB3GAP2","RAC1","RAD21","RAD51","RAD51C","RAF1","RAI1","RAPSN","RASA2","RASGRP1","RB1","RBBP8","RBM10","RBM8A","RBPJ","RECQL","RECQL4","RELN","RERE","RET","RETREG1","REV3L","RFC2","RFT1","RFWD3","RFX7","RIGI","RIPK4","RIPPLY2","RIT1","RLIM","RMRP","RNF13","RNF216","RNU4ATAC","ROBO1","ROR2","RPGRIP1","RPGRIP1L","RPL10","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS23","RPS24","RPS26","RPS27","RPS28","RPS29","RPS6KA3","RPS7","RRAS","RRAS2","RREB1","RSPO2","RSPRY1","RTEL1","RTL1","RTTN","RUNX2","RUSC2","RYR1","RYR3","SACS","SALL1","SALL4","SAMD9","SATB2","SBDS","SC5D","SCAPER","SCARF2","SCLT1","SCN1B","SCN2A","SCN4A","SCN9A","SCNM1","SDCCAG8","SEC24C","SELENON","SEMA3C","SEMA3D","SEMA3E","SETBP1","SETD1B","SETD2","SETD5","SF3B2","SF3B4","SFTPA1","SFTPA2","SFTPC","SH2B1","SH3PXD2B","SHANK3","SHH","SHMT2","SHOX","SIAH1","SIK1","SIK3","SIL1","SIM1","SIN3A","SKI","SLC12A6","SLC18A3","SLC22A4","SLC25A12","SLC25A22","SLC25A24","SLC25A46","SLC26A2","SLC29A3","SLC2A10","SLC32A1","SLC34A2","SLC35A2","SLC35A3","SLC35B2","SLC39A13","SLC5A6","SLC9A6","SLC9A7","SLCO2A1","SLX4","SMAD2","SMAD3","SMAD4","SMARCA2","SMARCA4","SMARCAD1","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SMC1A","SMC3","SMG9","SMO","SMOC1","SMPD4","SMS","SNIP1","SNORD115-1","SNORD116-1","SNRPB","SNRPN","SON","SOS1","SOS2","SOST","SOX11","SOX4","SOX5","SOX6","SOX9","SP7","SPART","SPECC1L","SPEG","SPEN","SPIDR","SPOP","SPRED1","SPRED2","SPTBN1","SRCAP","SREBF1","SRP54","STAG1","STAG2","STAMBP","STK11","STN1","STUB1","STX1A","SUFU","SUMF1","SUPT16H","SUZ12","SVBP","SVIL","SYNE1","TAPT1","TBC1D24","TBC1D2B","TBCK","TBL1XR1","TBL2","TBR1","TBX1","TBX15","TBX2","TBX22","TBX3","TBX4","TBX5","TCF20","TCF4","TCTN1","TCTN2","TCTN3","TDO2","TELO2","TERC","TERT","TFAP2A","TFAP2B","TFE3","TGDS","TGFB1","TGFB2","TGFB3","TGFBR1","TGFBR2","THSD4","TLK2","TLL1","TMCO1","TMEM107","TMEM138","TMEM147","TMEM216","TMEM218","TMEM231","TMEM237","TMEM270","TMEM67","TMEM70","TMEM94","TNNI2","TNNT3","TOGARAM1","TONSL","TOPORS","TOR1A","TOR1AIP1","TP53RK","TP63","TPM2","TPM3","TPR","TPRKB","TRAIP","TRAPPC2","TRAPPC9","TRIM32","TRIM8","TRIO","TRIP11","TRIP13","TRMT10A","TRPM3","TRPS1","TRPV4","TRRAP","TSR2","TTC21B","TTC26","TTC8","TTN","TUBA1A","TUBB","TUBB2B","TUBB3","TWIST1","TWIST2","TXNDC15","UBA1","UBA2","UBE2T","UBE3A","UBE3B","UBE4B","UBR1","UFD1","UNC80","UPF3B","USP7","USP9X","VAC14","VPS13B","VPS35L","VPS37D","WAC","WASF1","WASHC5","WDPCP","WDR11","WDR19","WDR35","WDR4","WDR73","WFS1","WIPI2","WLS","WNK1","WNT10B","WNT5A","WNT7A","XRCC2","XRCC4","XYLT1","XYLT2","YRDC","YWHAE","YY1","YY1AP1","ZBTB20","ZC4H2","ZDHHC9","ZEB2","ZFPM2","ZIC3","ZMIZ1","ZMPSTE24","ZMYM2","ZNF141","ZNF292","ZNF407","ZNF423","ZNF462","ZNF469","ZNF668","ZNF699","ZNHIT3","ZSWIM7"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BROAD_PALM":{"collection":"C5:HPO","systematicName":"M35161","pmid":"","exactSource":"HP:0001169","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001169","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BROAD_PALM","geneSymbols":["ADAMTS10","AIFM1","ASXL1","B3GLCT","BCOR","COL2A1","DDR2","DHX30","DYM","DYNC1H1","FBN1","FGD1","FGFR1","FHL1","GATA1","GNS","GPC3","GPC4","IFT80","IHH","KDM6B","LBR","PIGA","PPP2R3C","PRKAR1A","PTH1R","RAI1","RPS6KA3","SLC35C1","SPECC1L","TBL1XR1","TONSL"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_THUMB_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M35162","pmid":"","exactSource":"HP:0001172","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001172","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_THUMB_MORPHOLOGY","geneSymbols":["ABCD1","ACAN","ACTA1","ACTB","ACTG1","ACVR1","ADA2","ADAMTS10","ADGRG6","ADH5","ADNP","ALDH18A1","ALG12","ALG13","ALG3","ALG9","ALX4","ANKLE2","ANKRD11","AP4M1","APC","ATAD1","ATP6V1B2","ATP7A","B3GALT6","B3GAT3","B3GLCT","B9D1","B9D2","BAP1","BAZ1B","BCL7B","BCOR","BHLHA9","BICD2","BICRA","BLTP1","BMP2","BMP4","BMPR1A","BMPR1B","BPNT2","BPTF","BRCA1","BRCA2","BRD4","BRIP1","BUD23","CANT1","CBFB","CC2D2A","CDC42","CDC45","CEP290","CHD7","CHN1","CHST11","CHST14","CHST3","CHSY1","CILK1","CLIC2","CLIP2","CNOT1","COG7","COL12A1","COL2A1","COL6A1","COL6A2","COL6A3","CPLANE1","CPLX1","CREBBP","CRIPT","CRLF1","CRPPA","CSPP1","CTBP1","CUL3","CWF19L1","DACT1","DHCR7","DHODH","DHX30","DLK1","DLX5","DNAJC30","DNM1L","DONSON","DPH2","DSE","DVL1","DVL3","DYNC2H1","DYNC2I1","DYNC2I2","ECE1","ECEL1","EDN3","EDNRB","EED","EFTUD2","EIF4A3","EIF4H","ELN","EP300","EPB41L1","ERBB2","ERBB3","ERCC1","ERCC4","ESCO2","EXOSC2","EXOSC9","EXTL3","EZH2","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FBLN5","FBN1","FBN2","FGF10","FGF9","FGFR1","FGFR2","FGFR3","FGFRL1","FIBP","FIG4","FKBP6","FLNA","FLNB","FRA10AC1","FRAS1","FZD2","G6PC3","GATA1","GATA4","GDF5","GDNF","GJA1","GJA5","GJA8","GLI1","GLI3","GNAS","GNB1","GON7","GPC3","GPC4","GPKOW","GTF2I","GTF2IRD1","GTF2IRD2","H3-3A","H3-3B","HDAC8","HEATR3","HEPACAM","HNRNPR","HOXA13","HOXD13","HPGD","HYLS1","IFT80","IHH","INPPL1","INTU","KAT6B","KATNB1","KCNH1","KCNN3","KCTD1","KDM1A","KIF7","KLHL40","KLHL41","KNSTRN","L1CAM","LAGE3","LAMA5","LETM1","LIFR","LIG4","LIMK1","LMBR1","LMNB2","LMOD3","LONP1","LRP4","LTBP2","MAD2L2","MAFB","MAN2C1","MAP3K7","MED12","MED25","MEG3","MEGF8","MEIS2","METTL27","MGAT2","MGP","MIR17HG","MKS1","MLXIPL","MSL3","MSX2","MYBPC1","MYCN","MYH3","MYL11","NAA10","NALCN","NCF1","NDE1","NEB","NEK1","NEK9","NELFA","NIPBL","NKX3-2","NOG","NONO","NPR3","NRTN","NSD1","NSD2","NSUN2","NUP107","NUP133","NXN","OFD1","OPA3","OSGEP","OTUD6B","PACS1","PAH","PALB2","PCDHGC4","PCGF2","PCNT","PHF8","PHGDH","PIGB","PIGF","PIGG","PIGY","PIK3CD","PKDCC","PLXND1","POGZ","PPP2R3C","PQBP1","PRKD1","PRKG2","PSMD12","PTCH1","PTEN","PTH1R","PTRH2","PUF60","PYCR2","RAB23","RAD21","RAD51","RAD51C","RB1","RBM8A","RECQL","RECQL4","RELN","RET","REV3L","RFC2","RFT1","RFWD3","RIPK4","RLIM","RNU4ATAC","ROBO1","ROR2","RPGRIP1","RPGRIP1L","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS7","RRAS2","RSPO2","RTL1","RUNX2","SALL1","SALL4","SATB2","SEMA3C","SEMA3D","SETBP1","SF3B2","SF3B4","SHH","SHMT2","SIAH1","SIN3A","SLC26A2","SLC35B2","SLC9A6","SLX4","SMC1A","SMC3","SMO","SMOC1","SMPD4","SNIP1","SON","SOX9","SPART","SRCAP","SREBF1","STUB1","STX1A","SUMF1","SUZ12","SVBP","SYNE1","TAPT1","TBC1D24","TBL2","TBX5","TCTN1","TCTN2","TCTN3","TDO2","TFAP2A","TGDS","TMEM107","TMEM216","TMEM231","TMEM237","TMEM270","TMEM67","TNNI2","TNNT3","TOR1A","TP53RK","TP63","TPM2","TPRKB","TRIO","TRPM3","TSR2","TTC26","TWIST1","TXNDC15","UBE2T","USP9X","VAC14","VPS35L","VPS37D","WDR35","WDR4","WDR73","WIPI2","WNT5A","XRCC2","XYLT1","YRDC","ZC4H2","ZEB2","ZIC3","ZMYM2","ZNF462","ZNF668","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LARGE_HANDS":{"collection":"C5:HPO","systematicName":"M35163","pmid":"","exactSource":"HP:0001176","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001176","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LARGE_HANDS","geneSymbols":["AGPAT2","AIP","APC2","ARCN1","ASNS","BSCL2","CAV1","CAVIN1","EED","EZH2","FIBP","FOS","GPR101","HERC1","INSR","KDM5C","KIT","MEN1","NF1","NSD1","PACS1","PEX1","PEX6","PHF8","PIGL","POLR3A","POR","PPARG","RNU4ATAC","RPS6KA3","SDHB","SDHC","SETD2","SHANK3","SUZ12"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PREAXIAL_HAND_POLYDACTYLY":{"collection":"C5:HPO","systematicName":"M35164","pmid":"","exactSource":"HP:0001177","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001177","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PREAXIAL_HAND_POLYDACTYLY","geneSymbols":["B9D1","B9D2","BHLHA9","CC2D2A","CDC45","CEP290","CHN1","CPLANE1","CPLX1","CSPP1","CTBP1","DACT1","DYNC2H1","DYNC2I1","DYNC2I2","EFTUD2","EXTL3","FANCD2","FGFR2","FGFRL1","GJA1","GLI1","GLI3","HEATR3","HEPACAM","HOXD13","HYLS1","IFT80","KIF7","LETM1","LMBR1","MAFB","MKS1","NEK1","NELFA","NSD2","OFD1","PHF8","PIGG","PTEN","PUF60","RPGRIP1","RPGRIP1L","SALL1","SALL4","SMO","TCTN1","TCTN2","TCTN3","TFAP2A","TMEM107","TMEM216","TMEM231","TMEM237","TMEM67","TXNDC15","WDR35","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ULNAR_CLAW":{"collection":"C5:HPO","systematicName":"M35165","pmid":"","exactSource":"HP:0001178","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001178","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ULNAR_CLAW","geneSymbols":["EGR2","GDAP1","HSPB1","MPV17","MPZ","NEFL","PMP22","PRX","SBF2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HAND_OLIGODACTYLY":{"collection":"C5:HPO","systematicName":"M35166","pmid":"","exactSource":"HP:0001180","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001180","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HAND_OLIGODACTYLY","geneSymbols":["BHLHA9","CHD7","COL25A1","DLX5","ESCO2","KIF21A","NIPBL","PHOX2A","PORCN","RECQL4","RPL26","SF3B4","SMOC1","TUBA1A","TUBB2B","TUBB3","WNT10B","WNT7A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ADDUCTED_THUMB":{"collection":"C5:HPO","systematicName":"M35167","pmid":"","exactSource":"HP:0001181","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001181","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ADDUCTED_THUMB","geneSymbols":["ABCD1","ACTA1","ADGRG6","ALDH18A1","ALG13","ALG3","ANKLE2","AP4M1","ATAD1","ATP7A","B3GALT6","BAZ1B","BCL7B","BICD2","BLTP1","BUD23","CHST11","CHST14","CLIP2","COG7","COL12A1","COL6A1","COL6A2","COL6A3","CREBBP","CRLF1","CRPPA","DLK1","DNAJC30","DPH2","DSE","ECE1","ECEL1","EDN3","EDNRB","EIF4H","ELN","EP300","EPB41L1","ERBB2","ERBB3","ERCC1","EXOSC9","FBLN5","FBN1","FBN2","FKBP6","GDNF","GNB1","GON7","GPKOW","GTF2I","GTF2IRD1","GTF2IRD2","KATNB1","KCNH1","KLHL40","KLHL41","L1CAM","LAGE3","LIFR","LIMK1","LMOD3","MED25","MEG3","METTL27","MLXIPL","MSL3","MYBPC1","MYH3","MYL11","NALCN","NCF1","NDE1","NEB","NEK9","NRTN","NUP107","NUP133","OSGEP","PCGF2","PHGDH","PIGY","RBM8A","RELN","RET","RFC2","RFT1","RTL1","SEMA3C","SEMA3D","SHMT2","SLC35B2","SLC9A6","SMO","SMPD4","SREBF1","STUB1","STX1A","SYNE1","TAPT1","TBL2","TDO2","TGDS","TMEM270","TNNI2","TNNT3","TOR1A","TP53RK","TPM2","TPRKB","VPS37D","WDR4","WDR73","YRDC","ZEB2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_TAPERED_FINGER":{"collection":"C5:HPO","systematicName":"M35168","pmid":"","exactSource":"HP:0001182","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001182","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TAPERED_FINGER","geneSymbols":["ACSL4","ADAMTSL1","ADNP","AIP","AMMECR1","ARX","ASXL1","ATRX","BCORL1","BRF1","CCDC88A","CCNK","CDC42","CDC42BPB","CDKL5","CHD4","CHST14","CLP1","CNOT1","CNOT3","COL12A1","COPB1","CPT2","CRLF1","DDX6","DHX30","DLX5","DOCK3","DPH5","DPYSL5","DSE","DYRK1A","EBF3","ECE1","EHMT1","EIF2S3","EXOC6B","EXOSC5","FBXO11","FIG4","GATA2","GATA4","GJA1","GJB3","GJB4","GNAI1","GNB1","GNB2","GPR101","H3-3A","H3-3B","H4C5","HDAC8","HEATR3","HECTD4","HIVEP2","HUWE1","IARS2","INPPL1","IRX5","KATNB1","KCNE5","KDM1A","KDM5C","KDSR","KIF1A","KIF7","KIFBP","KMT2A","KMT2C","KMT2E","LAS1L","LMNB2","MAF","MAGEL2","MAP1B","MAPK1","MAPRE2","MTHFS","MYMK","MYOD1","NR2F1","ODC1","OTUD6B","PAX1","PCGF2","PHF21A","PHF6","PHIP","PIGA","PIGB","PIGN","PIGV","PRIM1","PRKAR1B","PRR12","PUM1","RAB11B","RETREG1","RNF13","RPL10","RPS6KA3","RUNX2","RUSC2","SCARF2","SCN9A","SETD1B","SIM1","SLC12A6","SLC25A12","SLC25A46","SLC39A13","SMARCA2","SMARCAD1","SMC1A","SNIP1","SPEN","SPOP","SUPT16H","SVBP","TCF20","TCF4","TELO2","TFE3","TNNT3","TP53RK","TRAPPC9","TRIO","TRPM3","UNC80","USP9X","VAC14","VPS13B","WASF1","WNK1","ZMIZ1","ZMYM2","ZNHIT3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPEREXTENSIBILITY_OF_THE_FINGER_JOINTS":{"collection":"C5:HPO","systematicName":"M35169","pmid":"","exactSource":"HP:0001187","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001187","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPEREXTENSIBILITY_OF_THE_FINGER_JOINTS","geneSymbols":["ASAH1","BRAF","COL1A2","COL5A1","FBN1","FGD1","GNB2","GORAB","HDAC4","HRAS","IFITM5","KCNH1","LMX1B","MED12","NFASC","OTUD6B","PIGG","PKDCC","PLAA","PRR12","PTDSS1","RPS6KA3","SMS","SP7","TMCO1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HAND_CLENCHING":{"collection":"C5:HPO","systematicName":"M35170","pmid":"","exactSource":"HP:0001188","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001188","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HAND_CLENCHING","geneSymbols":["ASXL3","ATP6V1E1","BCOR","BICD2","BLTP1","CDK5","CNTNAP1","DST","FLNB","GLE1","GNB1","GRIK2","GTPBP2","HNRNPH1","KCNA1","KIDINS220","L1CAM","MAPT","MOGS","MYOD1","NEB","SCYL2","SLC6A9","SMG9","SYNE1","TBR1","TOR1A","TPM2","WDR73","WWOX"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CARPAL_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M35171","pmid":"","exactSource":"HP:0001191","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001191","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CARPAL_MORPHOLOGY","geneSymbols":["ABCC6","ALDH18A1","APC","ATP7A","B3GALT6","BGN","BHLHA9","BMPR1B","BPNT2","CANT1","CBFB","CHST3","CHSY1","COL27A1","COL2A1","COMP","DDR2","DYM","DYNC2LI1","EBP","EIF2AK3","ENPP1","ESCO2","EVC","EVC2","EXOC6B","EXT1","EXT2","EXTL3","FBLN1","FGFR2","FGFR3","FLNA","FLNB","GDF5","GLI1","GNPTAB","GPC3","GPC4","HOXA13","HOXD13","IDH1","IHH","KIF22","LEMD3","LMBR1","LONP1","LRP4","MACROH2A1","MAFB","MAP3K7","MATN3","MBTPS1","MMP14","MMP2","MYH3","NANS","NIN","NOG","NOTCH2","NXN","PAX3","PDE4D","PIGV","PITX1","POR","PRKACA","PRKACB","PTH1R","RBM8A","RECQL4","RMRP","ROR2","RSPRY1","SALL4","SETD2","SHH","SHOX","SLC10A7","SLC34A2","SLC35B2","SLC35D1","SMOC1","TBX5","TONSL","TRIP11","TRPV4","UFSP2","WNT7A","XRCC2","XYLT1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ULNAR_DEVIATION_OF_THE_HAND_OR_OF_FINGERS_OF_THE_HAND":{"collection":"C5:HPO","systematicName":"M35172","pmid":"","exactSource":"HP:0001193","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001193","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ULNAR_DEVIATION_OF_THE_HAND_OR_OF_FINGERS_OF_THE_HAND","geneSymbols":["ADGRG6","ALG9","ANKRD11","ASXL3","B9D2","BCR","BICD2","BMP2","BMPR1B","CD96","CHRNG","CILK1","COG1","COL9A1","COL9A2","COL9A3","COMP","CRKL","DACT1","DHCR7","DPYSL5","FAT4","FBN2","FLNA","FRA10AC1","GDF5","HOXA13","HOXD13","HRAS","LAMA5","LBR","LIFR","MAFB","MAN2C1","MAP3K7","MAPK1","MED12","MUSK","MYBPC1","MYH3","MYMK","MYMX","NALCN","PAX3","PCDHGC4","PEX1","PIEZO2","PTRH2","RAB3GAP1","RAB3GAP2","RBM28","RBM8A","RYR3","SALL1","SHOX","SLC26A2","SPART","TBX22","TGDS","TNNI2","TNNT3","TPM2","WNT7A","ZEB2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITIES_OF_PLACENTA_OR_UMBILICAL_CORD":{"collection":"C5:HPO","systematicName":"M35173","pmid":"","exactSource":"HP:0001194","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001194","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITIES_OF_PLACENTA_OR_UMBILICAL_CORD","geneSymbols":["ADGRG6","ATP6V1B2","BCL10","C11orf80","C1QC","CACNA1C","CCDC22","CD46","CDKN1C","CDKN2A","CFH","CFI","CHEK2","CLPB","CORIN","DDX6","DLK1","DPF2","DPYSL5","F13A1","F13B","F7","FANCB","FANCF","FAT4","FCGR3B","FERMT1","FGFR3","FLT1","FOXF1","G6PC3","GATA6","GJA1","GJB2","GLB1","GLE1","GNB2","HELLPAR","HMGA2","HNRNPK","HOXD13","HSPG2","HYMAI","IGF1","IGF2","IL6ST","ITGB2","KANK2","KCNQ1","KCNQ1OT1","KHDC3L","KIT","KRT1","LBR","LMNA","LORICRIN","MCTP2","MDM2","MEG3","MEI1","MKS1","MTHFS","MUSK","MYD88","MYH7","NLRP7","NRAS","PACS1","PAK2","PGAP2","PGAP3","PHGDH","PIGL","PIGO","PIGV","PIGW","PIGY","PLAG1","PLAGL1","POMP","POR","QRICH1","RAC2","RBCK1","RTL1","SCARF2","SERPINE1","SKIC3","SLC30A9","SMARCAD1","SMARCD2","SPECC1L","SPTBN1","STAG1","STK11","STOX1","TAPT1","TBC1D24","THSD1","TLK2","TP53","TP63","TRAF7","TRPV3","TWIST2","VPS35L","WASHC5","WNT3","WT1","ZMPSTE24","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SHORT_UMBILICAL_CORD":{"collection":"C5:HPO","systematicName":"M35174","pmid":"","exactSource":"HP:0001196","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001196","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_UMBILICAL_CORD","geneSymbols":["ADGRG6","LMNA","MTHFS","MUSK","PHGDH","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_PRENATAL_DEVELOPMENT_OR_BIRTH":{"collection":"C5:HPO","systematicName":"M35175","pmid":"","exactSource":"HP:0001197","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001197","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_PRENATAL_DEVELOPMENT_OR_BIRTH","geneSymbols":["AARS1","ABCA12","ABCA3","ABCB11","ABCB4","ABCC6","ABCD4","ACE","ACTA1","ACTG2","ACTL6B","ACY1","ADA","ADA2","ADAMTS2","ADAMTS3","ADARB1","ADAT3","ADCY6","ADGRG6","ADNP","AFF2","AGGF1","AGRN","AGT","AGTPBP1","AGTR1","AHCY","AIMP1","AKAP9","AKT2","ALB","ALDH1A2","ALDH7A1","ALG1","ALG12","ALG14","ALG8","ALG9","ALPK3","ALPL","ALX4","AMER1","AMMECR1","ANK2","ANO1","AP1S2","AP3B2","AQP2","ARHGAP31","ARSB","ARSL","ARV1","ARVCF","ASAH1","ASCC1","ASCL1","ASH1L","ASNS","ASXL1","ASXL2","ASXL3","ATAD3A","ATN1","ATP1A2","ATP1A3","ATP6V0A1","ATP6V0A2","ATP6V1A","ATP6V1B2","ATP6V1E1","ATP8B1","AVPR2","B3GALT6","B3GLCT","B4GALT1","B9D1","B9D2","BAZ1B","BCL10","BCL7B","BCR","BICD2","BIN1","BMPER","BNC2","BRAF","BRCA1","BRCA2","BRD4","BRIP1","BSND","BTG4","BUB1","BUB1B","BUB3","BUD23","C11orf80","C1QBP","C1QC","CA2","CACNA1A","CACNA1B","CACNA1C","CACNA1D","CACNA2D1","CALCRL","CALM1","CALM2","CALM3","CAMK2B","CAMKMT","CARS1","CARS2","CASP10","CAV3","CBL","CC2D2A","CCBE1","CCDC174","CCDC22","CCDC47","CD109","CD46","CD96","CDAN1","CDC42BPB","CDK13","CDK19","CDKN1C","CDKN2A","CDON","CELF2","CEP290","CEP55","CEP57","CERT1","CFH","CFI","CFL2","CHAT","CHD7","CHEK2","CHMP2B","CHRM3","CHRNA1","CHRND","CHRNE","CHRNG","CHST3","CHUK","CILK1","CLCN3","CLCN7","CLCNKA","CLCNKB","CLIP2","CLPB","CLTC","CLTCL1","CNKSR2","CNOT1","CNTN1","CNTNAP1","COASY","COG5","COL11A1","COL11A2","COL12A1","COL13A1","COL1A1","COL1A2","COL25A1","COL2A1","COL3A1","COL5A1","COL5A2","COL6A1","COL6A2","COL6A3","COMT","COPB2","COQ7","CORIN","COX11","COX14","COX15","CPLX1","CPSF3","CPT2","CRB2","CREBBP","CRKL","CRLS1","CRPPA","CRTAP","CSGALNACT1","CSNK2A1","CSPP1","CTBP1","CTCF","CTSA","CYFIP2","CYP11A1","CYP11B1","CYP11B2","DALRD3","DCLRE1B","DCLRE1C","DDX6","DEAF1","DEF6","DHCR7","DHDDS","DHPS","DIS3L2","DISP1","DLK1","DLL1","DLL4","DMPK","DNA2","DNAJC30","DNM1","DNM1L","DNM2","DNMT3A","DOCK6","DOHH","DOK7","DONSON","DPAGT1","DPF2","DPH5","DPM2","DPYSL5","DSP","DST","DTYMK","DUOX2","DYNC2H1","DYNC2I1","DYNC2I2","DYNC2LI1","DYRK1A","DZIP1L","EBF3","EBP","EEF1A2","EFEMP2","EFNB1","EGFR","EIF4H","EIF5A","ELN","EMC10","ENPP1","EOGT","EP300","EPB41","EPHB4","ERBB3","ERCC2","ERCC3","ERCC4","ERCC5","ERF","ERGIC1","ESCO2","EXOSC9","EXT2","EXTL3","F13A1","F13B","F2","F7","F8","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FARSA","FARSB","FAS","FASLG","FAT4","FBLN5","FBN1","FBXO28","FBXO43","FCGR3B","FCSK","FDXR","FERMT1","FGF12","FGF13","FGF20","FGF8","FGFR1","FGFR3","FGFRL1","FH","FIG4","FKBP14","FKBP6","FLI1","FLII","FLNB","FLT1","FLT4","FLVCR2","FOXC2","FOXE1","FOXF1","FOXH1","FOXRED1","FRA10AC1","FREM2","FUT8","FXR1","FZD4","FZR1","G6PC3","GABBR2","GABRA2","GABRA5","GABRB2","GABRG2","GALK1","GAS1","GATA1","GATA6","GATB","GATC","GBA1","GBE1","GFPT1","GFRA1","GGPS1","GJA1","GJB2","GLB1","GLDN","GLE1","GLI2","GLI3","GLRB","GMPPB","GNB2","GNPTAB","GON7","GOSR2","GP1BA","GP1BB","GPC3","GPC4","GPC6","GPKOW","GREB1L","GRIN2D","GRIP1","GRM7","GRN","GTF2E2","GTF2H5","GTF2I","GTF2IRD1","GTF2IRD2","GUSB","GYPC","H19","H4C3","HACD1","HADHA","HBA1","HBA2","HBB","HCN1","HDAC8","HEATR3","HELLPAR","HERC2","HIC1","HIRA","HLCS","HMGA2","HNF1B","HNRNPK","HOXD13","HRAS","HS2ST1","HSD17B4","HSPA9","HSPG2","HYLS1","HYMAI","IARS1","IARS2","IBA57","IFIH1","IFT80","IGF1","IGF2","IGHMBP2","IKZF1","IL1RN","IL2RB","IL2RG","IL6ST","IL7R","INPPL1","INVS","IPO8","IQCN","IQSEC2","IRF6","ITGA2","ITGA2B","ITGA6","ITGA7","ITGA8","ITGB2","ITGB3","ITGB4","JMJD1C","JUP","KANK2","KANSL1","KAT6B","KBTBD13","KCNA2","KCNB1","KCNE1","KCNE2","KCNH2","KCNJ1","KCNJ5","KCNJ6","KCNQ1","KCNQ1OT1","KCNQ5","KDM3B","KHDC3L","KIAA0586","KIDINS220","KIF14","KIF20A","KIF21A","KIF26A","KIF5C","KIF7","KIT","KLF1","KLHL40","KLHL41","KMT2D","KRAS","KRT1","LAGE3","LAMA5","LAMB2","LARS2","LBR","LDHA","LEMD2","LETM1","LGI4","LHX1","LIFR","LIG4","LIMK1","LMNA","LMOD1","LMOD3","LONP1","LORICRIN","LRP5","LRPPRC","LTBP3","LTBP4","LZTR1","MAD2L2","MADD","MAFB","MAGED2","MAGEL2","MAMLD1","MAP2K1","MAP2K2","MAP3K20","MAP3K7","MAPK1","MAPT","MBTPS2","MCM10","MCM4","MCTP2","MDFIC","MDM2","MECOM","MED12","MEG3","MEGF10","MEI1","METTL27","MGAT2","MKRN3","MKS1","MLXIPL","MMACHC","MOGS","MPLKIP","MPZ","MRAS","MRPS16","MRPS22","MSX1","MT-ND1","MT-ND2","MT-ND3","MTHFR","MTHFS","MTM1","MTMR14","MTO1","MUSK","MYCN","MYD88","MYF6","MYH11","MYH3","MYH7","MYL1","MYL11","MYL2","MYL9","MYLK","MYMK","MYO9A","MYOD1","MYPN","NAA10","NAA20","NALCN","NCF1","NDN","NDP","NDUFA1","NDUFA10","NDUFA11","NDUFA6","NDUFAF1","NDUFAF2","NDUFAF3","NDUFAF4","NDUFAF5","NDUFAF8","NDUFB10","NDUFB11","NDUFB3","NDUFB7","NDUFB9","NDUFS1","NDUFS2","NDUFS3","NDUFS4","NDUFS6","NDUFS7","NDUFS8","NDUFV1","NDUFV2","NEB","NECAP1","NECTIN1","NEK1","NEK8","NEK9","NELFA","NEU1","NEXMIF","NFASC","NIPBL","NLRP3","NLRP7","NODAL","NOS1AP","NOTCH1","NPAP1","NPC1","NPC2","NPHP3","NR1H4","NRAS","NRCAM","NSD1","NSD2","NSF","NTRK2","NUBPL","NUP107","NUP133","NUP188","NUP88","NUS1","OCA2","ODC1","OPA1","ORC1","OSGEP","OSTM1","OTUD5","OTX2","PACS1","PACS2","PADI6","PAFAH1B1","PAICS","PAK2","PALB2","PARS2","PAX2","PAX7","PBX1","PCDH12","PCGF2","PDHA1","PDX1","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PGAP2","PGAP3","PHACTR1","PHGDH","PHIP","PHOX2B","PI4KA","PIEZO1","PIGA","PIGG","PIGL","PIGN","PIGO","PIGQ","PIGS","PIGV","PIGW","PIGY","PKHD1","PKLR","PLAG1","PLAGL1","PLD1","PLEC","PLOD1","PLPBP","PLVAP","PMM2","PNPO","POLR2A","POLR3A","POMP","POR","PPM1B","PPP1CB","PPP3CA","PRDM13","PREPL","PRKAG2","PRKCD","PRMT7","PRPS1","PRRX1","PRUNE1","PSAT1","PSEN1","PTCD3","PTCH1","PTH1R","PTPN11","PTPN23","PTRH2","PUF60","PWAR1","PWRN1","QRICH1","QRSL1","RAC1","RAC2","RAD21","RAD51","RAD51C","RAF1","RAG1","RAG2","RAI1","RALGAPA1","RAPSN","RASA1","RASA2","RASGRP1","RBCK1","RBM10","RBPJ","REC114","REN","RET","RFC2","RFWD3","RHAG","RHCE","RHD","RIPK4","RIT1","RMND1","RMRP","RNF113A","RNF2","RNU4ATAC","ROBO1","RPGRIP1","RPGRIP1L","RPL10","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS7","RRAS","RRAS2","RREB1","RSPO2","RSPRY1","RTL1","RYR1","RYR3","SARS2","SATB1","SCARF2","SCN10A","SCN3A","SCN4A","SCN4B","SCN5A","SCN8A","SCYL2","SEC24C","SEC24D","SELENON","SEMA3E","SERPINE1","SERPINH1","SETD1A","SF3B4","SFTPB","SFTPC","SFXN4","SHH","SHOC2","SHPK","SHQ1","SIN3A","SIX3","SKIC2","SKIC3","SLC12A1","SLC13A5","SLC16A2","SLC17A5","SLC18A3","SLC1A2","SLC25A1","SLC25A12","SLC25A19","SLC25A24","SLC25A26","SLC25A46","SLC26A2","SLC26A3","SLC27A4","SLC2A1","SLC30A9","SLC31A1","SLC35A2","SLC35D1","SLC38A3","SLC3A1","SLC5A7","SLC6A5","SLC6A9","SLC9A3","SLX4","SMARCAD1","SMARCAL1","SMARCD2","SMC1A","SMC3","SMG9","SMN1","SMPD4","SNAP25","SNORD115-1","SNORD116-1","SNRPB","SNRPN","SNTA1","SOD1","SON","SOS1","SOS2","SOX10","SOX17","SOX18","SOX9","SPECC1L","SPEN","SPINT2","SPOP","SPRED2","SPTA1","SPTB","SPTBN1","SQSTM1","STAG1","STAT2","STK11","STOX1","STRADA","STX1A","SUFU","SYNE1","SYNGAP1","SYNJ1","SYT2","SZT2","TAF1","TALDO1","TAOK1","TAPT1","TARS1","TBC1D24","TBCD","TBCK","TBL2","TBX1","TBX5","TCF4","TCTN1","TCTN2","TCTN3","TDGF1","TFAM","TGIF1","TGM1","THOC2","THSD1","TIMMDC1","TLK2","TMCO1","TMEM106B","TMEM107","TMEM126B","TMEM216","TMEM231","TMEM237","TMEM270","TMEM67","TMEM70","TNNC2","TOR1A","TP53","TP53RK","TP63","TPI1","TPM2","TPM3","TPRKB","TRAF7","TRAIP","TRAK1","TRAPPC12","TRDN","TREM2","TRIM37","TRIP11","TRIP13","TRIP4","TRPV3","TRPV4","TRPV6","TSEN2","TSEN54","TSFM","TSHR","TSR2","TTC26","TTC7A","TUBA1A","TWIST1","TWIST2","TXNDC15","UBA1","UBA5","UBE2A","UBE2T","UFD1","UNC45B","UQCC2","UQCRFS1","UROD","UROS","USP18","USP7","USP9X","VAC14","VAMP1","VANGL2","VARS1","VCP","VPS13B","VPS33B","VPS35L","VPS37D","WARS2","WASHC5","WDR35","WDR4","WDR62","WDR73","WDR81","WNT3","WNT4","WNT7A","WNT9B","WT1","WWOX","XRCC2","YARS1","YRDC","YWHAE","YWHAG","ZBTB18","ZBTB42","ZC4H2","ZFP36L2","ZIC2","ZIC3","ZMPSTE24","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_TRIPHALANGEAL_THUMB":{"collection":"C5:HPO","systematicName":"M35176","pmid":"","exactSource":"HP:0001199","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001199","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TRIPHALANGEAL_THUMB","geneSymbols":["ADA2","ATP6V1B2","BRCA1","BRCA2","BRIP1","CHN1","DACT1","DLX5","ERCC4","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FGFR2","FGFR3","GATA1","GLI3","HEATR3","KCNN3","KIF7","LMBR1","MAD2L2","MAFB","MSX2","PALB2","PIGB","PIGF","RAD51","RAD51C","RFWD3","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS7","SALL1","SALL4","SF3B4","SHH","SLX4","TBC1D24","TBX5","TP63","TSR2","TWIST1","UBE2T","XRCC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DISTAL_SYMPHALANGISM_OF_HANDS":{"collection":"C5:HPO","systematicName":"M35177","pmid":"","exactSource":"HP:0001204","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001204","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DISTAL_SYMPHALANGISM_OF_HANDS","geneSymbols":["BMPR1B","GDF5","IHH","NOG","TFAP2B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_FINGERTIP_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M35178","pmid":"","exactSource":"HP:0001211","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001211","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FINGERTIP_MORPHOLOGY","geneSymbols":["ABCA3","ADNP","ARID1B","ATN1","ATP11A","BCOR","BMPR1A","CCDC22","CD55","CFTR","CHD1","CREBBP","CTCF","DEAF1","DHX30","DPP9","DSP","EIF2AK4","EMC1","EP300","EZH2","FAM13A","FCGR2A","FOXP1","FOXP2","GJA5","GJA8","GJB6","H3-3B","H4C5","HNRNPH1","HNRNPH2","HPGD","HSPG2","IL21","INTU","JAG1","JARID2","KANSL1","KDM6A","KMT2D","KPTN","LAMA3","LAMB3","LAMC2","LRBA","MAP1B","MED12","MED12L","MUC5B","NAA10","NCKAP1L","NFIX","NLRP3","NR2F1","NXN","PAK3","PARN","PKDCC","PRR12","PSMB8","PTEN","PTH1R","RAB3GAP2","RASGRP1","RPS23","RTEL1","RUSC2","SFTPA1","SFTPA2","SFTPC","SLC34A2","SLC5A6","SLCO2A1","SRCAP","STK11","STN1","TBL1XR1","TCF4","TERC","TERT","TGFB1","TLL1","WAC","ZMPSTE24","ZNF292","ZNF407"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DELAYED_OSSIFICATION_OF_CARPAL_BONES":{"collection":"C5:HPO","systematicName":"M35180","pmid":"","exactSource":"HP:0001216","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001216","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DELAYED_OSSIFICATION_OF_CARPAL_BONES","geneSymbols":["BGN","CBFB","COL2A1","EXOC6B","EXTL3","HOXA13","IHH","LONP1","MATN3","MBTPS1","PIGV","PTH1R","RMRP","TONSL","TRIP11","TRPV4","UFSP2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CLUBBING":{"collection":"C5:HPO","systematicName":"M35181","pmid":"","exactSource":"HP:0001217","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001217","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CLUBBING","geneSymbols":["AARS1","ABCA12","ABCA3","ACVRL1","ATP11A","BMPR1A","BRCA1","BRCA2","BRIP1","BTNL2","CARS1","CCDC103","CCDC39","CCDC40","CCDC65","CCNO","CD55","CDC45","CFAP221","CFAP298","CFAP300","CFAP74","CFTR","DNAAF1","DNAAF11","DNAAF2","DNAAF3","DNAAF4","DNAAF5","DNAAF6","DNAH1","DNAH11","DNAH5","DNAH9","DNAI1","DNAI2","DNAJB13","DNAL1","DPP9","DRC1","DSP","EIF2AK4","ENG","ERCC2","ERCC3","ERCC4","FAM13A","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FCGR2A","FLNB","FOXJ1","GAS2L2","GAS8","GJB6","GTF2E2","GTF2H5","HLA-DRB1","HNRNPH1","HPGD","HSPG2","HYDIN","IL21","IL6ST","INTU","JAG1","KRT1","KRT10","KRT16","KRT9","LIFR","LRBA","LRRC56","MAD2L2","MALT1","MARS1","MCIDAS","MPLKIP","MUC5B","NCKAP1L","NEK10","NLRP3","NME5","NME8","ODAD1","ODAD2","ODAD3","ODAD4","OFD1","PALB2","PARN","PIGL","POLA1","PRKACB","PSMB8","PTEN","PTH1R","RAD51","RAD51C","RASGRP1","RFWD3","RHBDF2","RNF113A","RPGR","RSPH1","RSPH3","RSPH4A","RSPH9","RTEL1","SCNN1A","SCNN1B","SCNN1G","SFTPA1","SFTPA2","SFTPB","SFTPC","SLC34A2","SLC5A6","SLCO2A1","SLX4","SMAD4","SMARCA2","SMARCAD1","SPAG1","SPEF2","STK11","STK36","STN1","TARS1","TCF4","TERC","TERT","TGFB1","TLL1","TTC12","UBE2A","UBE2T","VPS33A","VPS51","XRCC2","ZMYND10"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_AUTOAMPUTATION":{"collection":"C5:HPO","systematicName":"M35182","pmid":"","exactSource":"HP:0001218","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001218","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AUTOAMPUTATION","geneSymbols":["ATL1","GJB2","KIF1A","KRT1","MPV17","NTRK1","RAB7A","RETREG1","SCN9A","SLURP1","SPTLC1","SPTLC2","TGM1","TREX1","TRPV3","VPS33B","WNK1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_THENAR_EMINENCE":{"collection":"C5:HPO","systematicName":"M35183","pmid":"","exactSource":"HP:0001227","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001227","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_THENAR_EMINENCE","geneSymbols":["ADA2","EIF4A3","EMILIN1","FBXW11","FGD4","FGFR2","GATA1","HEATR3","HOXA13","RAD51C","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS7","SALL4","TBX5","TSR2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BROAD_METACARPALS":{"collection":"C5:HPO","systematicName":"M35184","pmid":"","exactSource":"HP:0001230","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001230","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BROAD_METACARPALS","geneSymbols":["ADAMTS10","BGN","BMPR1B","DDR2","DNMT3A","EXTL3","FBN1","FGFR1","GDF5","GLB1","GNAS","IFT140","IHH","MMP14","MMP2","NPR2","PDE4D","SLC26A2","TFE3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_FINGERNAIL_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M35185","pmid":"","exactSource":"HP:0001231","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001231","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FINGERNAIL_MORPHOLOGY","geneSymbols":["AARS1","AFF4","AIP","AIRE","ARHGAP31","ARID1A","ARID1B","ARID2","ATP6V1B2","BAZ1B","BCL7B","BMPER","BMPR1B","BRAF","BUD23","CARS1","CASR","CCDC22","CDH3","CDKN1C","CENPT","CLEC7A","CLIP2","COL11A1","COL11A2","COL17A1","COL7A1","CSTB","CTC1","CTSC","DKC1","DLL4","DNAJC30","DOCK6","DPF2","DPYSL5","DVL1","DVL3","DYNC2LI1","EDAR","EDARADD","EED","EFNB1","EIF4H","ELN","EOGT","ERCC2","ERCC3","EVC","EVC2","EZH2","FBXO28","FGFR2","FKBP6","FZD2","GDF5","GJA1","GLI1","GNA11","GPR101","GTF2E2","GTF2H5","GTF2I","GTF2IRD1","GTF2IRD2","HLA-B","HMGA2","HPGD","HRAS","HYMAI","IFT122","IFT43","IFT52","IGF2","IKBKG","IL11RA","IL17F","IL17RA","IL17RC","IL6ST","INPPL1","ITGB4","KCNH1","KCNMA1","KCNN3","KCTD1","KDF1","KIF1A","KRAS","KRT1","KRT14","KRT16","KRT17","KRT5","KRT6A","KRT6B","KRT74","KRT9","LIG4","LIMK1","LMNA","LMX1B","LRP4","MACROH2A1","MAP2K1","MAP2K2","MBTPS2","METTL27","MLXIPL","MPLKIP","MSX1","NCF1","NECTIN1","NHP2","NOP10","NOTCH1","NOTCH2","NPM1","NSD1","NSUN2","NXN","PARN","PAX9","PEPD","PERP","PEX1","PEX6","PGAP2","PIGF","PIGN","PIGO","PITX1","PKP1","PLAG1","PLAGL1","PLCD1","PLEC","POFUT1","POGLUT1","PPP1CB","PRKACA","PRKACB","PSENEN","PTDSS1","RBPJ","RETREG1","RFC2","RNF113A","RNU12","ROR2","RPS6KA3","RTEL1","RUNX2","SCN9A","SF3B1","SHOC2","SHOX","SLC35D1","SLC39A4","SLCO2A1","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SOST","SOX11","SOX4","STAT3","STX1A","SUZ12","TARS1","TBC1D24","TBL2","TBX3","TERC","TERT","TET2","TFAP2A","TINF2","TMEM270","TP63","TRAF3IP2","TRAF6","TRPV3","TWIST2","TYMS","USB1","VPS35L","VPS37D","WASHC5","WDR19","WDR35","WNK1","WNT10A","WNT5A","WRAP53","ZBTB20","ZMPSTE24","ZNF462"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_2_3_FINGER_SYNDACTYLY":{"collection":"C5:HPO","systematicName":"M35186","pmid":"","exactSource":"HP:0001233","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001233","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_2_3_FINGER_SYNDACTYLY","geneSymbols":["CDH3","DSP","FANCF","FGFR2","GPC3","GPC4","JUP","LRP4","PITX1","SMO","SOST","WDPCP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HITCHHIKER_THUMB":{"collection":"C5:HPO","systematicName":"M46063","pmid":"","exactSource":"HP:0001234","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001234","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HITCHHIKER_THUMB","geneSymbols":["ALG9","BPNT2","CHSY1","CILK1","CNOT1","FLNB","MEGF8","SLC26A2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SLENDER_FINGER":{"collection":"C5:HPO","systematicName":"M35187","pmid":"","exactSource":"HP:0001238","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001238","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SLENDER_FINGER","geneSymbols":["ABL1","ACTA2","ACTG2","AEBP1","ALG14","AMER1","ARVCF","ASPH","ASXL3","ATP2B1","ATRX","B3GALT6","B4GALT7","BCR","BGN","BICRA","BMP1","BMP15","BNC1","BPTF","C1R","CBS","CDC42BPB","CHRNG","CHST14","CIC","CNTN1","COL11A1","COL12A1","COL2A1","COL3A1","COL6A1","COL6A2","COL6A3","COMT","CPLX1","CRKL","CTBP1","CTSC","CYP26B1","DLG4","DPAGT1","DSE","EFEMP2","EFTUD2","ELN","FARSA","FBLN5","FBN1","FBN2","FGFR2","FGFR3","FLNA","FOXE3","FSHR","GNB2","GP1BB","H3-3B","HERC1","HEY2","HIRA","HNRNPH1","HNRNPH2","HYOU1","IPO8","JMJD1C","KANSL1","KIF22","LAGE3","LETM1","LFNG","LOX","MAPK1","MAPK8IP3","MAT2A","MED12","MFAP5","MRPS22","MSH4","MTM1","MYH11","MYLK","NALCN","NARS1","NELFA","NFIX","NKAP","NPR2","NPR3","NR5A1","NSD2","NUP107","OSGEP","OTUD6B","PACS1","PAPPA2","PEPD","PHF8","PIEZO2","PIGG","PLOD1","POLR3H","POR","PPP1R15B","PQBP1","PRDM5","PRKG1","PSMC3IP","PTCH1","PTCH2","PYCR2","RECQL","RREB1","SATB2","SCARF2","SEC24C","SH2B1","SIN3A","SKI","SLC2A10","SLC9A6","SMAD2","SMAD3","SMAD4","SMARCE1","SMS","SON","SOX6","SPIDR","STUB1","SUFU","TBX1","TGFB2","TGFB3","TGFBR1","TGFBR2","THSD4","TPR","TRAPPC9","TRMT10A","UBE3B","UFD1","UNC80","UPF3B","USP9X","VPS13B","WDR73","XYLT2","YRDC","ZDHHC9","ZEB2","ZNF469","ZSWIM7"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_WRIST_FLEXION_CONTRACTURE":{"collection":"C5:HPO","systematicName":"M35188","pmid":"","exactSource":"HP:0001239","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001239","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WRIST_FLEXION_CONTRACTURE","geneSymbols":["ADAMTSL2","ADGRG6","ANO5","ASXL1","B3GALT6","CADM3","CAPN3","COL12A1","COL25A1","COL6A1","COL6A2","COL6A3","DDR2","DHX16","DLK1","ERCC1","ERGIC1","ERLIN2","ESCO2","FBN2","FLNA","HSPG2","MAP3K7","MECP2","MEG3","MMP2","MUSK","MYH3","MYL11","PI4KA","PRG4","RTL1","SCYL2","SPG11","TBX15","TNNT1","TUBB3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SMALL_THENAR_EMINENCE":{"collection":"C5:HPO","systematicName":"M41233","pmid":"","exactSource":"HP:0001245","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001245","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SMALL_THENAR_EMINENCE","geneSymbols":["EIF4A3","EMILIN1","FBXW11","FGD4","FGFR2","HOXA13","RAD51C","RPS19","SALL4","TBX5"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LETHARGY":{"collection":"C5:HPO","systematicName":"M35190","pmid":"","exactSource":"HP:0001254","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001254","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LETHARGY","geneSymbols":["ABAT","ABCC8","ABCD4","ACADM","ACADS","ACADSB","ACADVL","ADA2","AGR2","ALDOB","ALG12","AMT","ASL","ASPA","ASS1","ATP13A2","ATP5F1A","ATP5F1D","ATP5F1E","ATP5MK","ATPAF1","ATPAF2","AVP","BCKDHA","BCKDHB","BMP6","BNC2","BOLA3","BTD","CA5A","CDKN1A","CDKN1B","CDKN2B","CDKN2C","CDON","COX5A","CPS1","CPT1A","CPT2","CYP24A1","DBT","DDC","DISP1","DLD","DLL1","DPYD","DPYS","DUOX2","DUOXA2","EIF2B1","FBP1","FGF8","FGFR1","FOXH1","FOXRED1","GABRB2","GALT","GAS1","GATA1","GCH1","GK","GLDC","GLI2","GUF1","GYS2","HADH","HADHA","HADHB","HAMP","HEATR3","HESX1","HFE","HIBCH","HJV","HLCS","HMGCL","HNF1A","HNF4A","IVD","IYD","KCNJ11","KRT18","LHX3","LHX4","LMBRD1","LYRM7","MAGEL2","MCCC1","MCCC2","MEN1","MMAA","MMAB","MMACHC","MMADHC","MMUT","MRPS16","MT-ATP6","MT-ATP8","MT-CYB","MT-ND1","MT-ND2","MT-ND3","MT-TT","MTHFR","MTRR","NAA10","NAGS","NAXD","NBAS","NDE1","NDUFA1","NDUFA11","NDUFA6","NDUFAF1","NDUFAF2","NDUFAF3","NDUFAF4","NDUFAF5","NDUFAF8","NDUFB10","NDUFB11","NDUFB3","NDUFB9","NDUFS1","NDUFS2","NDUFS3","NDUFS4","NDUFS6","NDUFS7","NDUFS8","NDUFV1","NDUFV2","NFS1","NFU1","NODAL","NUBPL","OTC","PAX2","PAX8","PBX1","PCCA","PCCB","PDHA1","PEX2","PIGA","PLCH1","POLG","POLG2","POU1F1","PRDX1","PROP1","PTCH1","RARS2","RMND1","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS7","RRM2B","RYR1","SCO2","SHH","SIK1","SIM1","SIX3","SLC19A2","SLC19A3","SLC1A2","SLC22A5","SLC25A13","SLC25A15","SLC25A19","SLC25A20","SLC25A22","SLC25A4","SLC2A1","SLC31A1","SLC39A4","SLC4A1","SLC52A1","SLC5A5","SLC7A7","SMC1A","STAG2","STIL","SUGCT","TBK1","TCN2","TDGF1","TFAM","TG","TGIF1","TH","TIMMDC1","TLR3","TMEM126B","TPO","TRHR","TSHB","TSHR","TSPOAP1","TSR2","TWNK","UCP2","USP18","YARS2","YY1","ZIC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INTELLECTUAL_DISABILITY_MILD":{"collection":"C5:HPO","systematicName":"M35191","pmid":"","exactSource":"HP:0001256","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001256","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTELLECTUAL_DISABILITY_MILD","geneSymbols":["AASS","ABCA2","ABCC9","ACAT1","ACOX2","ACP5","ACTB","ACVR1","ADAMTS10","ADAR","AFG3L2","AGL","AKT1","ALAD","ALG1","ALX4","AMER1","AMFR","ANK3","ANO10","AP1S2","AP3B1","AP5Z1","APC","APC2","ARID1B","ARPC4","ARVCF","ARX","ATL1","ATP13A2","ATP2A2","ATP6AP1","ATP9A","B4GALNT1","BBS10","BCOR","BIN1","BLM","BMPR1A","BPTF","BRAF","BRF1","BRWD3","BSCL2","C12orf57","CA8","CABP4","CAMTA1","CARS1","CDH11","CDK6","CDKL5","CENPJ","CEP57","CHRNA2","CHRNA4","CHRNA7","CHRNB2","CLCN4","COG1","COG5","COMT","CPLX1","CRBN","CRH","CSTB","CTDP1","CTNNB1","CUL3","CWF19L1","DAG1","DARS1","DCAF17","DCC","DCDC2","DEPDC5","DLAT","DLK1","DMD","DNAJC12","DNAJC19","DNAJC21","DNAJC3","DNAL4","DNMT3A","DONSON","DPYD","DSTYK","DYM","DYRK1A","EDC3","EIF2B4","EMC10","EP300","ERCC4","ERCC6","ERCC8","ERMARD","EXOSC2","EXT2","EYA1","EZH2","FAT4","FBN1","FGD1","FGF14","FGFR2","FIBP","FKRP","FLCN","FLNA","FMR1","FOXP1","FREM1","FZD4","GABBR2","GALT","GATA4","GBA2","GDI1","GLB1","GLI3","GLIS3","GLRA2","GMPPB","GNE","GNPTG","GORAB","GP1BB","GPAA1","GPSM2","GRIA3","GRIK2","GRIN1","GTPBP3","H19","HCN4","HDAC6","HEATR3","HEPACAM","HINT1","HIRA","HMGA2","HMGCL","HPD","HPRT1","HSD17B4","IFT140","IGF1","IGF2","INPP5E","ITPR1","JAG1","JAG2","JMJD1C","KANSL1","KCNC3","KCNJ8","KCNQ1OT1","KCNT1","KDM6A","KIF11","KIF1C","KLF13","KMT2B","KMT2D","L1CAM","LEMD3","LRP5","LTBP2","MAGEL2","MAN1B1","MAN2B1","MAP3K7","MARS1","MARS2","MASP1","MCM3AP","MECOM","MECP2","MED12","MEG3","METTL23","MGP","MIA3","MID1","MLC1","MSMO1","MSTO1","MT-ATP6","MT-TL1","MT-TL2","MT-TN","MT-TS1","MTHFD1","MTRFR","MTSS2","MYCN","NAGA","NARS2","NDN","NDP","NF1","NFE2L2","NFIX","NGF","NKX2-1","NLGN4X","NONO","NR4A2","NSD1","NSDHL","NTN1","NTNG1","NTRK1","NUP54","NUP62","OCA2","ORC1","PAFAH1B1","PCDH19","PCNA","PDSS1","PEX10","PEX11B","PGAP1","PGAP2","PHF8","PIEZO2","PIK3CA","PITRM1","PLP1","PNPLA2","PNPLA6","POGZ","POLA1","POLR3A","POLR3B","POMGNT1","POMK","POMT1","POMT2","POU3F4","POU4F1","PQBP1","PRMT7","PRPS1","PRRT2","PSMB8","PSMD12","PTEN","PTPN11","PYCR1","RAB39B","RAB3GAP2","RAD51","RAF1","RAI1","RARS1","RBPJ","RCBTB1","RECQL4","RNF135","RNU4ATAC","RPS6KA3","RREB1","RSPRY1","RTL1","RTN4IP1","RUBCN","RYR1","SARDH","SBDS","SCN8A","SCYL1","SDCCAG8","SEC24C","SELENOI","SETBP1","SETD1B","SETD2","SFXN4","SH2B1","SHH","SIN3A","SIN3B","SKIC2","SKIC3","SLC12A6","SLC16A2","SLC18A2","SLC25A24","SLC25A36","SLC25A4","SLC29A3","SLC2A1","SLC35A3","SMC1A","SMS","SNRPN","SOX11","SOX3","SPART","SPEG","SPG11","SPRED2","SPTBN2","SRCAP","SRP54","SRPX2","SRY","STAC3","SUFU","SYN1","TAC3","TAF13","TBC1D24","TBC1D2B","TBC1D7","TBX1","TCF20","TFAP2A","TFAP2B","TH","THG1L","THOC2","TIMM8A","TKT","TMEM63C","TRIM37","TRIO","TSPAN12","TSPOAP1","TTC19","TTN","UBE3A","UFD1","UPF3B","VPS13D","VPS16","VRK1","WAC","WDFY3","WDR11","WDR48","YY1","ZC4H2","ZFR","ZMYM2","ZMYND11","ZNF341","ZNF408","ZNF462"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SPASTICITY":{"collection":"C5:HPO","systematicName":"M35192","pmid":"","exactSource":"HP:0001257","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001257","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPASTICITY","geneSymbols":["AARS1","AARS2","AASS","ABCA12","ABCC8","ABCD1","ABHD12","ABHD16A","ACAT1","ACER3","ACP5","ACTL6B","ADAM22","ADAR","ADARB1","ADAT3","ADD3","ADGRG1","ADSL","AFF3","AFG3L2","AGA","AGTPBP1","AIFM1","AIMP1","ALDH18A1","ALDH3A2","ALG11","ALG3","ALG9","ALS2","AMACR","AMFR","AMPD2","ANG","ANK3","ANKLE2","ANXA11","AP1G1","AP1S2","AP3B2","AP4B1","AP4E1","AP4M1","AP4S1","AP5Z1","APC","APC2","APOE","ARF1","ARG1","ARL6IP1","ARNT2","ARSA","ARSI","ARV1","ARX","ASAH1","ASNS","ASPA","ATAD1","ATAD3A","ATL1","ATM","ATN1","ATP13A2","ATP1A2","ATP1A3","ATP2B3","ATP5F1A","ATP5F1D","ATP5F1E","ATP5MC3","ATP5MK","ATP6AP2","ATP6V0A1","ATP6V0A2","ATP6V1A","ATP6V1E1","ATP7A","ATPAF1","ATPAF2","ATRX","ATXN1","ATXN10","ATXN2","ATXN3","ATXN7","ATXN8OS","AUH","AUTS2","B4GALNT1","B4GAT1","BAZ1B","BCAS3","BCL11B","BCL7B","BCOR","BCS1L","BEAN1","BICD2","BOLA3","BSCL2","BTD","BUD23","C19orf12","C2orf69","CACNA1A","CACNA1B","CACNA1C","CACNA1D","CACNA1E","CACNA1G","CACNA2D1","CAMK2A","CAMK2B","CAMLG","CAPN1","CARS1","CARS2","CASK","CCDC88C","CCNF","CCT5","CDC40","CDK19","CDKL5","CDON","CELF2","CEP85L","CFAP410","CHCHD10","CHMP1A","CHMP2B","CHP1","CIT","CKAP2L","CLCN3","CLCN4","CLIC2","CLIP2","CLN5","CLN8","CLP1","CLPB","CLTC","CNKSR2","CNOT1","CNP","CNPY3","CNTNAP1","CNTNAP2","COA8","COASY","COG2","COL4A1","COL4A2","COLGALT1","COPB1","COPB2","COQ5","COX15","COX8A","CPSF3","CPT1C","CRLF1","CSF1R","CTC1","CTNNA2","CTNNB1","CTSD","CYB5A","CYB5R3","CYFIP2","CYP27A1","CYP2U1","CYP7B1","DALRD3","DAO","DARS1","DARS2","DCTN1","DCX","DDB2","DDHD1","DDHD2","DDX3X","DEGS1","DENND5A","DHCR24","DHDDS","DHPS","DISP1","DLD","DLL1","DMXL2","DNAJC19","DNAJC30","DNAJC6","DNM1","DNM1L","DNMT1","DPH5","DPM1","DSTYK","DTYMK","DYM","DYNC1H1","DYNC1I2","EARS2","ECHS1","EDNRB","EED","EEF1A2","EIF2AK1","EIF2AK2","EIF2B1","EIF2B2","EIF2B4","EIF2S3","EIF4H","ELN","ELOVL1","ELOVL4","ELP2","EML1","ENTPD1","EPHA4","EPM2A","EPRS1","ERBB4","ERCC1","ERCC2","ERCC3","ERCC4","ERCC5","ERCC6","ERCC8","ERLIN1","ERLIN2","EXOC2","EXOC8","EXOSC3","EXOSC5","EXOSC8","EXOSC9","EXTL3","EZH2","FA2H","FAR1","FARS2","FBLN1","FBXO28","FBXO7","FCSK","FDX2","FDXR","FGF12","FGF13","FGF8","FGFR1","FIG4","FKBP6","FLNA","FLRT1","FOXG1","FOXH1","FOXP1","FRMD5","FRMPD4","FRRS1L","FTL","FUCA1","FUS","FXN","FZR1","GABBR2","GABRA2","GABRA5","GABRB2","GABRG2","GAD1","GALC","GAMT","GAN","GAS1","GATAD2B","GBA1","GBA2","GBE1","GCDH","GCH1","GDAP2","GEMIN4","GFAP","GFM1","GFM2","GJA1","GJB1","GJC2","GLB1","GLE1","GLI2","GLRA1","GLRB","GLRX5","GLT8D1","GLYCTK","GM2A","GMPPA","GNAO1","GOT2","GPAA1","GPHN","GPT2","GRIA2","GRIA3","GRIA4","GRIK2","GRIN1","GRIN2B","GRIN2D","GRM1","GRM7","GSS","GSX2","GTF2E2","GTF2H5","GTF2I","GTF2IRD1","GTF2IRD2","GTPBP2","GUF1","H3-3A","H4C5","HACE1","HCN1","HECTD4","HEPACAM","HEXB","HID1","HIKESHI","HLA-DQB1","HLA-DRB1","HMGCL","HNRNPA1","HPDL","HPRT1","HSD17B10","HSD17B4","HSPD1","HTRA1","HTRA2","HTT","HUWE1","IARS1","IBA57","IDUA","IFIH1","IKBKG","INPP5E","INPP5K","INTS8","IREB2","IRF2BPL","ISCA1","ISCA2","ITM2B","JAM3","KANK1","KARS1","KATNB1","KCNA1","KCNA2","KCNA4","KCNB1","KCNC2","KCNC3","KCNJ6","KCNQ2","KCNT1","KDM5C","KIDINS220","KIF11","KIF1A","KIF1C","KIF2A","KIF5A","KIF5C","KLC2","KMT2B","KPNA3","KRAS","KY","L1CAM","L2HGDH","LAGE3","LAMB1","LETM1","LIAS","LIMK1","LINGO1","LIPT1","LIPT2","LMBRD2","LMNB1","LMX1B","LRPPRC","LRRK2","LSM11","LYRM7","LYST","MACF1","MAG","MAN2B1","MAPK8IP3","MAPT","MARS1","MARS2","MATR3","MCCC1","MCCC2","MCEE","MCOLN1","MECP2","MECR","MED12","MED13L","MED17","MED23","MED25","MED27","METTL27","METTL5","MFF","MFN2","MFSD2A","MICOS13","MINPP1","MLC1","MLXIPL","MOCS1","MOCS2","MORC2","MPLKIP","MRE11","MRM2","MRPS22","MRPS34","MSL3","MT-ATP6","MT-ATP8","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND5","MT-ND6","MT-TF","MT-TI","MT-TK","MT-TL1","MT-TP","MT-TV","MT-TW","MTFMT","MTHFR","MTHFS","MTO1","MTPAP","MTRFR","MYO5A","NAA10","NACC1","NADK2","NAGA","NALCN","NARS2","NAXD","NCF1","NDE1","NDUFA13","NDUFA2","NDUFA4","NDUFA6","NDUFA8","NDUFAF4","NDUFAF5","NDUFC2","NDUFS4","NDUFV1","NDUFV2","NECAP1","NEFH","NEFL","NEK1","NEU1","NEUROD2","NEXMIF","NFU1","NHLRC1","NIPA1","NKX6-2","NODAL","NOTCH3","NOVA2","NPC1","NPC2","NR2F1","NSD1","NSRP1","NSUN2","NT5C2","NTNG1","NTNG2","NTRK2","NUBPL","NUP214","NUP54","NUP62","NUS1","OCLN","ODC1","OGDHL","OPA1","OPA3","OPHN1","OPTN","OSGEP","OSTM1","OTUD6B","PACS2","PAFAH1B1","PANK2","PARK7","PARS2","PAX3","PCDH12","PCLO","PCYT2","PDCD1","PDHX","PET100","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PEX7","PFN1","PGAP1","PHACTR1","PHGDH","PI4KA","PIGA","PIGN","PIGP","PIGQ","PIGU","PINK1","PLA2G6","PLAA","PLCB1","PLCH1","PLP1","PMPCA","PMPCB","PNKP","PNP","PNPLA6","PNPLA8","PNPT1","PODXL","POLA1","POLG","POLR1C","POLR3A","POLR3B","POLR3GL","POMGNT1","PON1","PON2","PON3","POU3F3","PPARGC1A","PPFIBP1","PPIL1","PPP1R15B","PPP3CA","PPT1","PQBP1","PRDM13","PRDM8","PRKN","PRNP","PRPH","PRPS1","PRRT2","PRUNE1","PSAP","PSAT1","PSEN1","PSMC1","PTCH1","PTPN23","PTS","PUM1","PYCR2","RAB11B","RAB18","RAB27A","RAB3GAP1","RAB3GAP2","RAD50","RALGAPA1","RANBP2","RARS1","RARS2","REEP1","REEP2","REPS1","RERE","RETREG1","RFC2","RFT1","RLIM","RNASEH2A","RNASEH2B","RNASEH2C","RNASET2","RNF113A","RNF13","RNF170","RNF220","RNU4ATAC","RNU7-1","ROGDI","RPIA","RPS6KA3","RTN2","RTTN","RUSC2","SACS","SAMHD1","SATB1","SATB2","SCN1B","SCN2A","SCN3A","SCN4A","SCN8A","SCYL1","SCYL2","SDHA","SDHAF1","SDHB","SDHD","SEC31A","SELENOI","SEPSECS","SERAC1","SETBP1","SETX","SHH","SHMT2","SHQ1","SIGMAR1","SIK1","SIL1","SIX3","SIX6","SLC12A2","SLC12A6","SLC13A5","SLC16A2","SLC17A5","SLC18A2","SLC19A3","SLC1A2","SLC1A4","SLC25A10","SLC25A12","SLC25A15","SLC25A22","SLC25A46","SLC2A1","SLC30A10","SLC32A1","SLC33A1","SLC35A2","SLC38A3","SLC39A14","SLC5A6","SLC6A5","SLC6A8","SLITRK2","SMC1A","SMPD1","SNCA","SNORD118","SNX14","SOD1","SON","SOX10","SOX2","SOX4","SPART","SPAST","SPATA5","SPATA5L1","SPG11","SPG21","SPG7","SPR","SPTAN1","SPTBN1","SPTBN2","SPTLC1","SQSTM1","SRD5A3","SRPX2","STAG2","STAMBP","STIL","STN1","STUB1","STX1A","STXBP1","SUCLA2","SUMF1","SUZ12","SVBP","SYNE1","SYNGAP1","SYNJ1","SZT2","TACO1","TAF1","TAF15","TAF2","TAF8","TANGO2","TARDBP","TARS1","TBC1D20","TBC1D23","TBCD","TBCE","TBK1","TBL2","TBP","TCEAL1","TCF20","TCTN2","TDGF1","TDP1","TECPR2","TELO2","TFG","TGFB1","TGIF1","THOC2","TIMM50","TIMM8A","TMEM222","TMEM231","TMEM270","TMEM63C","TMEM67","TMTC3","TMX2","TNR","TOE1","TP53RK","TPI1","TPK1","TPRKB","TRAK1","TRAPPC12","TRAPPC4","TREM2","TREX1","TRIM8","TRIT1","TRMT10A","TRMT5","TSEN15","TSEN2","TSEN34","TSEN54","TTC19","TTC26","TTR","TUBA1A","TUBB3","TUBB4A","TUBG1","TUBGCP2","TUFM","TXN2","TYROBP","UBA5","UBAP1","UBE4A","UBQLN2","UBTF","UCHL1","UFC1","UFM1","UGDH","UGP2","UNC13A","UNC80","USP8","VAMP1","VAPB","VCP","VPS11","VPS13C","VPS13D","VPS37A","VPS37D","VPS41","VPS4A","VPS50","VPS53","VRK1","VWA3B","WARS1","WARS2","WASHC4","WASHC5","WDR26","WDR4","WDR45","WDR45B","WDR48","WDR62","WDR73","WLS","WWOX","XPA","XPC","YIF1B","YWHAG","ZBTB11","ZC4H2","ZEB2","ZFR","ZFYVE26","ZFYVE27","ZIC2","ZNF335","ZNF592","ZNF668","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SPASTIC_PARAPLEGIA":{"collection":"C5:HPO","systematicName":"M35193","pmid":"","exactSource":"HP:0001258","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001258","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPASTIC_PARAPLEGIA","geneSymbols":["ABCA12","ABCD1","ABHD16A","AIFM1","ALDH18A1","ALS2","AMFR","AMPD2","AP4B1","AP4E1","AP4M1","AP4S1","AP5Z1","ARL6IP1","ARSI","ATL1","ATP13A2","ATP5F1A","ATP5F1D","ATP5F1E","ATP5MC3","ATP5MK","ATPAF1","ATPAF2","ATRX","B4GALNT1","BSCL2","C19orf12","CACNA1D","CAPN1","CCT5","CPT1C","CYP2U1","CYP7B1","DDHD1","DDHD2","DNM1L","DSTYK","ELOVL1","ENTPD1","ERLIN2","FA2H","FARS2","FLRT1","GAN","GBA1","GBA2","GBE1","GJC2","GPT2","HACE1","HPDL","HSPD1","IBA57","INTS8","KDM5C","KIDINS220","KIF1A","KIF5A","KLC2","KPNA3","KY","L1CAM","LAMB1","LYST","MAG","MAN2B1","MARS1","MECP2","MT-ATP6","MT-ATP8","MTRFR","NIPA1","NT5C2","OPA1","PAX3","PDHX","PEX3","PGAP1","PI4KA","PLP1","PNPLA6","RAB3GAP2","REEP1","REEP2","RNASEH2B","RNF170","RNF220","RTN2","SELENOI","SETX","SLC16A2","SLC25A15","SLC2A1","SLC33A1","SPART","SPAST","SPG11","SPG21","SPG7","STXBP1","TECPR2","TFG","TOE1","UBAP1","UCHL1","USP8","VAMP1","VCP","VPS37A","WASHC5","WDR45B","WDR48","ZFR","ZFYVE26","ZFYVE27"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_COMA":{"collection":"C5:HPO","systematicName":"M35194","pmid":"","exactSource":"HP:0001259","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001259","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_COMA","geneSymbols":["ABCC8","ACADM","ACAT1","AKT2","ALDOB","APP","ASL","ASS1","ATP1A2","ATP7B","AUH","BCKDHA","BCKDHB","BRAF","CACNA1A","CDKN1A","CDKN1B","CDKN2B","CDKN2C","CFH","CFHR1","CFHR3","CPS1","CPT1A","CPT2","CTNNB1","CYC1","DBT","EIF2B5","ETFA","ETFB","ETFDH","FBP1","GCK","GK","GLUD1","HADH","HADHA","HADHB","HLCS","HMBS","HMGCL","HMGCS2","HNF1A","HNF4A","IL18BP","INS","INSR","IVD","KCNJ11","KYNU","LYRM7","MC2R","MCCC1","MCCC2","MEN1","MMAA","MMAB","MMUT","MRAP","NAGS","NAXE","NDUFA2","NDUFS4","NFKB2","NNT","OTC","PCCA","PCCB","PDX1","POLG","POLR3K","PPOX","PRF1","PRRT2","RANBP2","SCN1A","SLC19A3","SLC22A5","SLC25A13","SLC25A15","SLC25A20","SLC7A7","SOX10","SQOR","STAR","STAT3","STX11","STXBP2","TBK1","TICAM1","TLR3","TRAF3","TTC19","TXNRD2","UCP2","UNC13D","UNC93B1","YY1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DYSARTHRIA":{"collection":"C5:HPO","systematicName":"M35195","pmid":"","exactSource":"HP:0001260","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001260","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DYSARTHRIA","geneSymbols":["AAAS","AARS1","AARS2","ABCA2","ABCB7","ABCD1","ABHD12","ACBD5","ACTB","ADA2","ADAR","ADCY5","ADD3","ADGRG1","ADH1C","ADPRS","AFG3L2","ALAD","ALDH18A1","ALDH3A2","ALS2","AMACR","ANO10","ANOS1","ANXA11","AP4B1","AP4E1","AP4M1","AP4S1","APOE","APTX","AR","ARSA","ARX","ATCAY","ATG5","ATG7","ATL1","ATM","ATN1","ATP13A2","ATP1A2","ATP1A3","ATP2B3","ATP5F1A","ATP5F1D","ATP5F1E","ATP5MK","ATP7B","ATP8A2","ATPAF1","ATPAF2","ATXN1","ATXN10","ATXN2","ATXN3","ATXN7","ATXN8OS","AUH","B4GALNT1","BAZ1B","BCL7B","BEAN1","BIN1","BMPR1A","BRAF","BUD23","C19orf12","C9orf72","CA8","CACNA1A","CACNA1G","CACNA2D2","CACNB4","CAMTA1","CAPN1","CARS1","CBL","CCDC141","CCDC88C","CCNF","CERS1","CHAMP1","CHCHD10","CHD3","CHD7","CHRNA1","CHRNE","CIITA","CISD2","CLDN11","CLIP2","CLN3","CLN5","CLPB","CNOT1","COA7","COA8","COASY","COLQ","COQ2","COX20","CP","CPLX1","CSF1R","CSTB","CTC1","CTSF","CWF19L1","CYP27A1","CYP7B1","DAB1","DARS1","DARS2","DCAF17","DCC","DCTN1","DCX","DDHD2","DEGS1","DLAT","DMXL2","DNAJB6","DNAJC30","DNAJC6","DRD3","DUSP6","DYNC1I2","EBF3","EEF2","EIF2AK1","EIF2AK2","EIF2B1","EIF2B2","EIF2B3","EIF2B4","EIF4H","ELN","ELOVL1","ELOVL4","ELOVL5","EMC10","ENTPD1","EPCAM","EPM2A","EPRS1","ERBB3","ERCC2","ERCC3","ERCC4","ERCC5","ERCC8","ERLIN1","ERLIN2","EXOSC5","EZH2","FA2H","FAN1","FAR1","FARS2","FAT2","FBLN1","FBXL3","FBXO7","FEZF1","FGF14","FGF17","FGF8","FGFR1","FIG4","FKBP6","FLRT1","FLRT3","FMR1","FOXP2","FTL","FUS","FXN","GALC","GALT","GAN","GBA1","GBA2","GBF1","GCDH","GCH1","GCLC","GDAP2","GFAP","GFM2","GFPT1","GIPC1","GJA1","GJB1","GJC2","GLB1","GLE1","GLRX5","GLUD2","GNS","GOSR2","GPAA1","GPT2","GRHL3","GRIA1","GRID2","GRIN2A","GRM1","GSN","GSS","GTF2E2","GTF2H5","GTF2I","GTF2IRD1","GTF2IRD2","HACE1","HEPACAM","HEPHL1","HESX1","HEXB","HHAT","HMBS","HMGCL","HOXB1","HPCA","HPRT1","HS6ST1","HSD17B10","HSD17B4","HTRA1","HYCC1","IFRD1","IL17RD","INPP5K","IRF2BPL","ITPR1","JAK2","JAM2","JPH3","KCNA1","KCNA4","KCNC3","KCND3","KCTD17","KCTD7","KDM6A","KIF1C","KLC2","KMT2B","KMT2D","KRAS","LIMK1","LMNB1","LRP12","LYRM7","LZTR1","MAG","MAN2B1","MAP2K1","MAP2K2","MAPT","MARS1","MARS2","MATR3","MECR","MED13L","METTL27","MICOS13","MKS1","MLH1","MLH3","MLXIPL","MME","MMUT","MPL","MPLKIP","MRAS","MRE11","MSH2","MSH6","MT-ATP6","MT-ATP8","MT-TE","MT-TT","MTPAP","MTRFR","MTTP","MVK","MYORG","MYOT","NARS2","NAXE","NCF1","NDNF","NDUFA6","NDUFA9","NDUFAF5","NDUFAF6","NDUFS7","NDUFS8","NEB","NEFH","NEFL","NEK1","NF2","NFASC","NHLRC1","NKX2-1","NKX6-2","NONO","NOP56","NOTCH2NLC","NOTCH3","NPC1","NPC2","NPPA","NR4A2","NRAS","NSUN2","NUBPL","NUP54","NUP62","NUS1","NUTM2B-AS1","OPA1","OPA3","OPTN","PABPN1","PACS1","PANK2","PCGF2","PCNA","PDE10A","PDE8B","PDGFB","PDGFRB","PDYN","PEX10","PEX12","PEX16","PEX2","PEX6","PFN1","PGM3","PI4KA","PIEZO2","PIK3CA","PIK3R5","PLA2G6","PLD3","PLEKHG4","PLP1","PMM2","PMPCA","PMS1","PMS2","PNKD","PNKP","PNPLA8","PNPT1","POLG","POLG2","POLR3A","POLR3B","POLR3GL","POU4F1","PPP1R15B","PPP1R21","PPP2R2B","PRDM8","PRDX3","PRICKLE1","PRKCG","PRKRA","PRNP","PROK2","PROKR2","PRPH","PRPS1","PRRT2","PSAP","PSEN1","PTPN11","PUM1","PUS3","RAB39B","RAB3GAP2","RAF1","RAI1","RANBP2","RARS1","RASA2","REEP1","REEP2","REPS1","RERE","RFC1","RFC2","RFX5","RFXANK","RFXAP","RILPL1","RIT1","RNASEH1","RNF113A","RNF170","RNF216","RNF220","RNU12","RPIA","RPS20","RRAS","RRAS2","RRM2B","RTTN","RUBCN","RYR1","SACS","SAMD9L","SATB1","SCARB2","SCN1A","SCN5A","SCN8A","SCO2","SEC31A","SELENOI","SEMA3A","SEMA4A","SERPINI1","SETX","SH3TC2","SIL1","SLC13A3","SLC16A2","SLC17A5","SLC18A2","SLC19A3","SLC1A3","SLC20A2","SLC25A4","SLC25A42","SLC2A1","SLC30A10","SLC35A1","SLC44A1","SLC7A6OS","SLC9A1","SMARCAL1","SMS","SNAP25","SNCA","SNCAIP","SNORD118","SOD1","SOS1","SOS2","SOX10","SPART","SPAST","SPEG","SPG11","SPG21","SPG7","SPR","SPRED2","SPRY4","SPTBN2","SQSTM1","SRCAP","SRPX2","STAC3","STUB1","STX1A","SUFU","SYNE1","SYNJ1","SYT14","SYT2","TACO1","TACR3","TANGO2","TARDBP","TARS1","TBC1D23","TBC1D24","TBCE","TBK1","TBL2","TBP","TDP1","TECPR2","TGFBR2","TGM6","THAP1","THG1L","THPO","TIMM8A","TK2","TMEM106B","TMEM163","TMEM240","TMEM270","TMEM63C","TNR","TOP3A","TOR1A","TPK1","TPP1","TRAPPC11","TREX1","TRIM37","TTBK2","TTC19","TTN","TTPA","TTR","TUBB3","TUBB4A","TWNK","UBA5","UBAP1","UBB","UBQLN2","UBTF","UCHL1","UROC1","VAMP1","VAPB","VCP","VLDLR","VPS11","VPS13A","VPS13D","VPS37D","VPS41","VWA3B","WAC","WARS2","WASHC5","WDR11","WDR62","WDR73","WDR81","WFS1","WIPI2","WWOX","XK","XPR1","XRCC1","XRCC4","ZBTB11","ZC4H2","ZFYVE26","ZNF592"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_EXCESSIVE_DAYTIME_SOMNOLENCE":{"collection":"C5:HPO","systematicName":"M35196","pmid":"","exactSource":"HP:0001262","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001262","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EXCESSIVE_DAYTIME_SOMNOLENCE","geneSymbols":["ACAT1","AKT1","ASH1L","BAP1","BRAF","CLCNKB","COA8","CTNNB1","CTSH","DHCR7","DMPK","DNMT1","DOK7","DPYS","FBP1","FKRP","FKTN","GJB1","HCRT","HLA-DQB1","HLA-DRB1","HMBS","HMGCL","HTT","IL12A","IL12RB1","IRF5","KIF21A","LARGE1","MMEL1","MOG","MTRR","MUSK","MYOD1","NAA10","NF2","NUP88","P2RY11","PDGFB","PIK3CA","POMT1","POMT2","POU2AF1","PRPS1","PTS","RAPSN","SLC12A3","SLC18A3","SLC22A5","SLC2A3","SMARCB1","SMARCE1","SMO","SPIB","SUFU","TBC1D24","TBK1","TERT","TICAM1","TLR3","TNFSF15","TNFSF4","TNPO3","TRAF3","TRAF7","TUBA1A","TWNK","UNC93B1","ZNF365"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SPASTIC_DIPLEGIA":{"collection":"C5:HPO","systematicName":"M35197","pmid":"","exactSource":"HP:0001264","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001264","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPASTIC_DIPLEGIA","geneSymbols":["AARS1","AASS","ACP5","ADD3","ALDH3A2","ALS2","AP1S2","BCOR","CTNNB1","DARS1","ELP2","FLNA","FUS","GALC","GCDH","GLRX5","H4C5","HSD17B10","HSD17B4","HUWE1","NAA10","NDE1","NDUFA4","NTRK2","PDHX","PNP","PQBP1","PSAP","RAB3GAP1","RAB3GAP2","RNU7-1","SIGMAR1","SIX6","SLC25A15","SOX2","SPG11","SPTBN1","SPTLC1","TAF1","TANGO2","TUBB3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPOREFLEXIA":{"collection":"C5:HPO","systematicName":"M35198","pmid":"","exactSource":"HP:0001265","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001265","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOREFLEXIA","geneSymbols":["AARS1","AARS2","ABCA1","ABHD12","ACAT1","ACD","ACO2","ACOX1","ACTA1","ACTL6B","ADSS1","AGRN","AGTPBP1","AIFM1","ALDH5A1","AMT","ANXA11","AP3B2","APTX","AR","ARHGEF2","ARSA","ARV1","ATL3","ATN1","ATP1A1","ATP1A2","ATP1A3","ATP6AP2","ATP6V1A","ATP6V1B2","ATP7A","ATP9A","ATXN1","ATXN10","ATXN2","B3GALNT2","B4GALNT1","B4GAT1","BAG3","BEAN1","BICD2","BSND","C19orf12","CACNA1A","CACNA1B","CACNA1S","CACNA2D1","CARS1","CCDC47","CDK19","CELF2","CFL2","CHAT","CHCHD10","CLCNKA","CLCNKB","CLTC","CNBP","CNKSR2","CNTNAP1","CNTNAP2","COA7","COASY","COG7","COL13A1","COL4A1","COLQ","COX6A1","COX8A","CPT1A","CRPPA","CRYAB","CYFIP2","DAG1","DALRD3","DARS2","DBH","DCAF8","DEAF1","DES","DGUOK","DHDDS","DHH","DHTKD1","DHX30","DKC1","DMD","DNAJC6","DNM1","DNM2","DNMT1","DOCK3","DPAGT1","DUOX2","DUOXA2","DYNC1H1","DYSF","EEF1A2","EGR2","ELOVL4","ELP1","EMC1","ERCC2","ERCC3","ERCC6","EXOSC1","EXOSC3","EXOSC8","EXOSC9","EXTL3","FASTKD2","FBLN5","FBN1","FBXO28","FBXO38","FDX2","FGD4","FGF12","FGF13","FHL1","FIG4","FKRP","FKTN","FLI1","FLII","FLNC","FLRT1","FMR1","FUS","FZR1","GAA","GABBR2","GABRA2","GABRA3","GABRA5","GABRB2","GABRG2","GALC","GAN","GARS1","GBA1","GBF1","GDAP1","GEMIN4","GJB1","GLDC","GNAS","GNB4","GNPTAB","GRIA3","GRIN2A","GRIN2D","GTF2E2","GTF2H5","HADHA","HADHB","HCN1","HDAC4","HESX1","HK1","HMGCL","HNRNPDL","HSD17B4","HSPB1","HSPB8","HSPG2","IARS2","IBA57","IFRD1","IGHMBP2","INF2","INPP5K","IQSEC2","IYD","KARS1","KBTBD13","KCNA2","KCNB1","KCND3","KCNJ18","KIAA0586","KIF1A","KIF1B","KLC2","KLHL41","KY","LAMB2","LARGE1","LDB3","LGI3","LHX3","LHX4","LITAF","LMNA","LMOD3","LPIN1","LRP4","LRRK1","LRSAM1","LYST","MAG","MCM3AP","MDH2","MED25","MEGF10","MFN2","MGME1","MME","MORC2","MPLKIP","MPV17","MPZ","MRE11","MSTO1","MT-ATP6","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND5","MT-ND6","MT-TE","MT-TK","MT-TL1","MT-TV","MT-TW","MTPAP","MYH14","MYH7","MYO9A","MYOT","MYPN","NAGLU","NARS1","NARS2","NDE1","NDRG1","NDUFA1","NDUFA9","NDUFAF2","NDUFS4","NEB","NECAP1","NEFH","NEFL","NFASC","NGLY1","NOTCH2NLC","NTRK2","NUS1","PACS2","PARN","PARS2","PDHB","PDK3","PEX1","PEX10","PEX12","PEX2","PEX5","PEX6","PEX7","PGM3","PHYH","PIEZO2","PIGB","PIGG","PIGN","PIK3R5","PLP1","PMM2","PMP22","PMPCA","PNKP","PNPLA6","PNPT1","PODXL","POLG","POLG2","POLR3B","POMGNT1","POMGNT2","POMK","POMT1","POMT2","POU1F1","PPOX","PPP1R21","PPP3CA","PRDM12","PRDM13","PRKCG","PROP1","PRX","PSAP","PTF1A","PTRH2","PYROXD1","QRICH1","RAB7A","RAI1","REEP1","RETREG1","RFC1","RMND1","RNASEH1","RNF113A","RNF170","RRM2B","RTEL1","RUBCN","RXYLT1","RYR1","SBF2","SCN3A","SCN8A","SCN9A","SCYL1","SELENON","SEPTIN9","SETX","SHANK3","SIL1","SLC13A5","SLC18A3","SLC1A2","SLC25A1","SLC25A19","SLC25A4","SLC25A46","SLC35A1","SLC38A3","SLC5A5","SLC5A7","SMN1","SMN2","SMPD1","SNAP25","SNIP1","SNRPN","SNX14","SOX10","SPTLC1","SPTLC2","SQSTM1","ST3GAL5","STAC3","STIM1","STX16","SUCLA2","SYNE1","SYNGAP1","SYNJ1","SYT2","SZT2","TAOK1","TARDBP","TARS1","TBC1D23","TBC1D24","TBCK","TBK1","TERT","TG","TINF2","TK2","TMCO1","TMEM240","TPI1","TPM2","TPM3","TPO","TRAK1","TRAPPC11","TRIM32","TRIM8","TRMT5","TRMU","TRPV4","TSEN15","TSHB","TSHR","TSPYL1","TTR","TUBA8","TWNK","UBA5","VAMP1","VAPB","VCP","VPS13A","VPS33A","VRK1","VWA1","WARS1","WDR81","WNK1","WWOX","XPA","YWHAG","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CHOREOATHETOSIS":{"collection":"C5:HPO","systematicName":"M35199","pmid":"","exactSource":"HP:0001266","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001266","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHOREOATHETOSIS","geneSymbols":["ABHD16A","ADAR","ADCY5","AP1S2","ARX","ATG7","ATM","ATN1","ATP1A2","ATP1A3","CACNA1A","CACNA1B","CASK","CDKL5","CERS1","CHKA","CLPB","COX20","DCAF17","DDC","DLAT","DMXL2","EIF2AK2","ELP2","ERCC2","ERCC6","FBXL4","FBXO28","FRRS1L","FTL","GABRG2","GCDH","GCH1","GJC2","GNAO1","GNAS","GON7","GRIK2","GRIN1","GRM7","GTPBP2","GUF1","HCFC1","HPRT1","HSD17B10","HSPD1","IREB2","IRF2BPL","KCNA1","MECP2","MED23","MICOS13","MICU1","MMUT","MRE11","MRPS34","MT-ATP6","NADK2","NDUFA1","NDUFA13","NDUFA9","NDUFAF5","NEUROD2","NKX2-1","NUP54","NUP62","OPA3","PANK2","PDE2A","PDHA1","PIGN","PIGP","PIGQ","PIK3R5","PLP1","PNKD","PNKP","PNPT1","POLG","POU3F3","PRRT2","PTS","QDPR","SCN1A","SCN1B","SCN2A","SCN8A","SEPSECS","SETX","SH2B1","SIK1","SLC13A5","SLC16A2","SLC1A3","SLC25A22","SLC25A42","SLC2A1","SLC30A9","SLC32A1","SPR","SPTBN4","ST3GAL5","STXBP1","SUCLG1","SUOX","SYT1","TIMM50","TMEM106B","TMEM151A","TNR","TOE1","TRIM8","TRPM3","TSEN15","TSEN2","TSEN34","TSEN54","TUBB4A","VPS13A","XPA","XPR1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MENTAL_DETERIORATION":{"collection":"C5:HPO","systematicName":"M35200","pmid":"","exactSource":"HP:0001268","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001268","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MENTAL_DETERIORATION","geneSymbols":["AARS1","AARS2","AASS","ABCA7","ABCD1","ACTB","ACTL6B","ADA2","ADH1C","AGK","ALDH18A1","AMACR","ANXA11","AP3B2","AP5Z1","APOE","APOL2","APOL4","APP","APTX","ARSA","ARV1","ASAH1","ATN1","ATP13A2","ATP1A2","ATP1A3","ATP6V0A2","ATP6V1A","ATP6V1E1","ATP7B","ATRX","ATXN10","ATXN2","ATXN3","ATXN7","ATXN8OS","AUH","BRAF","BSCL2","C19orf12","C9orf72","CACNA1A","CACNA1B","CACNA2D1","CARS2","CCNF","CDH23","CDK19","CELF2","CERS1","CFAP43","CHCHD10","CHCHD2","CHD2","CHI3L1","CHMP2B","CISD2","CLN3","CLN5","CLN6","CLN8","CLTC","CNKSR2","CNTNAP2","COASY","COG2","COL4A1","COMT","COX6B1","CP","CPT1C","CREBBP","CSF1R","CST3","CSTB","CTC1","CTNS","CTSD","CTSF","CUBN","CUX2","CYC1","CYFIP2","CYLD","CYP27A1","DALRD3","DAOA","DARS2","DCAF17","DCTN1","DGUOK","DHDDS","DLAT","DNAJC13","DNAJC5","DNAJC6","DNM1","DNM1L","DNMT1","DRD3","EEF1A2","EIF2B5","EIF4G1","EP300","EPM2A","ERBB4","ERCC2","ERCC4","ERCC6","ERCC8","FA2H","FAR1","FBXO28","FBXO7","FGF12","FGF13","FMR1","FRRS1L","FTL","FUCA1","FUS","FZR1","GABBR2","GABRA2","GABRA5","GABRB2","GABRB3","GABRG2","GALC","GALK1","GALT","GBA1","GBA2","GBE1","GCDH","GCH1","GDAP2","GIGYF2","GLB1","GLUD2","GM2A","GNAS","GOSR2","GRIN2A","GRIN2D","GRN","HCN1","HEPACAM","HEXA","HEXB","HGSNAT","HIBCH","HLA-DQB1","HMBS","HNF4A","HNRNPA1","HNRNPA2B1","HSD17B10","HTR2A","HTRA1","HTRA2","HTT","IDS","IDUA","IRF6","ITM2B","JAM2","JPH3","KARS1","KCNA2","KCNB1","KCNC1","KCNQ2","KCNQ3","KCTD7","KIF1C","KMT2A","L1CAM","LIG3","LMNB1","LRPPRC","LRRK2","LYST","MAPK10","MAPT","MATR3","MBTPS2","MCOLN1","MECP2","MFN2","MFSD8","MICOS13","MMACHC","MME","MPO","MT-ATP6","MT-CO1","MT-CO2","MT-CO3","MT-CYB","MT-ND1","MT-ND4","MT-ND5","MT-ND6","MT-TC","MT-TE","MT-TF","MT-TH","MT-TK","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TT","MT-TV","MT-TW","MTFMT","MTHFR","MYORG","NAGLU","NBN","NDP","NDUFA1","NDUFA6","NECAP1","NHLRC1","NKX2-1","NOS3","NOTCH2NLC","NOTCH3","NPC1","NPC2","NR3C1","NR4A2","NRAS","NTRK2","NUS1","OPA1","PACS2","PAH","PANK2","PARK7","PARS2","PDE10A","PDE11A","PDGFB","PDGFRB","PINK1","PLA2G6","PLAU","PLEKHG4","PLP1","PMPCA","PNPLA6","PODXL","POLG","POLR3K","PPP2R2B","PPP3CA","PPT1","PRDM8","PRDX1","PRICKLE1","PRKAR1A","PRKAR1B","PRKCG","PRKN","PRNP","PRRT2","PSAP","PSEN1","PSEN2","PTS","QDPR","RAB27A","RAB39B","RBM28","RNASEH1","RNF216","RNU4ATAC","ROGDI","RRM2B","RTN4R","SAMD9L","SCARB2","SCN1A","SCN2A","SCN3A","SCN8A","SDHA","SDHAF1","SDHB","SDHD","SERPINI1","SGPL1","SLC13A3","SLC13A5","SLC1A2","SLC1A3","SLC20A2","SLC2A3","SLC38A3","SLC39A14","SLC44A1","SLC7A6OS","SMPD1","SNCA","SNCAIP","SNCB","SNORD118","SORL1","SPAST","SPG11","SPG21","SPTLC1","SQSTM1","STARD7","STUB1","SUMF1","SYN2","SYNGAP1","SYNJ1","SZT2","TARDBP","TBK1","TBP","TIA1","TIMM8A","TIMMDC1","TINF2","TK2","TLR3","TMEM106B","TMEM240","TOMM40","TP53","TRAK1","TREM2","TREX1","TRPM7","TTPA","TTR","TUBA4A","TUBB4A","TWNK","TYMP","TYROBP","UBA5","UBAP1","UBQLN2","UBTF","UCHL1","USP48","USP8","VCP","VPS13A","VPS13C","VPS35","WDR45","WFS1","WWOX","XPA","XPR1","YWHAG","ZFYVE26"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HEMIPARESIS":{"collection":"C5:HPO","systematicName":"M35201","pmid":"","exactSource":"HP:0001269","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001269","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEMIPARESIS","geneSymbols":["ABCD1","ADA2","AGR2","AKT1","AKT3","AMACR","ANGPTL6","ARHGAP31","ATP1A2","ATP1A3","BAP1","C4A","CACNA1A","CCR1","CFH","CFHR1","CFHR3","COL3A1","COL4A1","CYP26C1","DCC","DLL4","DNM1L","DOCK6","ENG","EOGT","ERAP1","FAS","FGFR1","GBE1","GNAQ","GUCY1A1","HLA-B","HLA-DQB1","HMGCL","HRAS","HTRA1","IFNGR1","IL10","IL12A","IL12A-AS1","IL23R","KLRC4","KRAS","MEFV","MT-CO1","MT-CO2","MT-CO3","MT-CYB","MT-ND1","MT-ND4","MT-ND5","MT-ND6","MT-TC","MT-TF","MT-TH","MT-TK","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TV","MT-TW","MTHFR","MTOR","NF2","NOTCH1","NOTCH3","OPA1","PDGFB","PIK3CA","PLA2G6","PRNP","PRORP","PRRT2","RBPJ","RHOBTB2","SCN1A","SLC1A3","SLC2A1","SMARCAL1","SMARCB1","SMARCE1","SMO","SP110","SPATA5L1","SPOP","STAT4","SUFU","TBC1D24","TBK1","TBX1","TERT","TGFBR3","THSD1","TLR3","TLR4","TPP2","TRAF7","TREX1","TSC1","TSC2","TTR","TUBB2B","UBAC2","WDR62"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MOTOR_DELAY":{"collection":"C5:HPO","systematicName":"M35202","pmid":"","exactSource":"HP:0001270","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001270","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MOTOR_DELAY","geneSymbols":["AARS2","ABCA12","ABCA2","ABCC8","ACADSB","ACAT1","ACBD5","ACP5","ACTA1","ACTB","ACTN2","ADA","ADA2","ADAMTS2","ADARB1","ADCY5","ADGRG1","ADGRL1","ADNP","AEBP1","AGK","AGO1","AGO2","AGR2","AGRN","AGTPBP1","AHCY","AHDC1","AHI1","AK9","ALDH18A1","ALDH5A1","ALDOA","ALG12","ALG14","ALG2","ALMS1","ALS2","AMFR","AMN","AMPD2","ANAPC7","ANKRD17","ANTXR1","AP1S2","AP3B1","AP3B2","AP4B1","AP4E1","AP4S1","APC2","ARCN1","ARHGEF2","ARID1B","ARID2","ARL13B","ARPC4","ASAH1","ASPA","ASPM","ASXL3","ATG5","ATG7","ATL1","ATP10A","ATP1A1","ATP1A3","ATP2A1","ATP2B3","ATP5F1A","ATP5F1D","ATP5F1E","ATP5MK","ATP6AP2","ATP6V0A1","ATP6V0A2","ATP6V1A","ATP6V1E1","ATP9A","ATPAF1","ATPAF2","ATXN7","AUH","AUTS2","B3GALT6","B3GAT3","B4GALT7","BAP1","BCAS3","BCL11A","BCL11B","BCOR","BCORL1","BICD2","BIN1","BMP1","BMPR1A","BPTF","BRAT1","BRPF1","BSND","CACNA1C","CACNA1G","CACNA1S","CADM3","CAMK2A","CAMK2B","CANT1","CARS1","CASK","CCBE1","CCDC134","CCDC22","CCDC78","CCNK","CDC40","CDH11","CDH2","CDK13","CDK5","CDK8","CDKL5","CDKN1C","CELF2","CFL2","CHAMP1","CHAT","CHD3","CHD5","CHD7","CHD8","CHKA","CHKB","CHMP1A","CHRNA1","CHRNB1","CHRND","CHRNE","CHST14","CHST3","CIB2","CIC","CIT","CLCN3","CLCN6","CLCN7","CLCNKA","CLCNKB","CLDN11","CLP1","CLPB","CNKSR2","CNOT1","CNOT2","CNOT3","CNTNAP2","COA8","COASY","COG1","COG4","COG5","COL12A1","COL13A1","COL1A1","COL1A2","COL25A1","COL2A1","COL3A1","COL5A1","COL5A2","COL6A1","COL6A2","COL6A3","COPB1","COQ2","COQ7","COX10","CPE","CPLX1","CPSF3","CPT1A","CRAT","CRBN","CREBBP","CRPPA","CSGALNACT1","CSNK2A1","CSNK2B","CTBP1","CTDP1","CTNNA2","CTNNB1","CUBN","CUL3","CUL4B","CUX1","CWC27","CYP27B1","CYP2R1","CYP2U1","CYP3A4","DAG1","DARS1","DARS2","DCPS","DCX","DDOST","DDR2","DEAF1","DHPS","DHX30","DLAT","DLG3","DLK1","DMD","DMXL2","DNAJB4","DNAJC19","DNAJC21","DNASE2","DNM1L","DNM2","DOCK3","DOK7","DOLK","DPAGT1","DPF2","DPH2","DPM3","DPYD","DPYSL5","DSE","DYM","DYNC1H1","DYNC1I2","DYRK1A","EBF3","EFEMP2","EGR2","EHMT1","EIF2AK1","EIF2B4","EIF3F","ELN","ELOVL1","EN1","EP300","EPG5","EPRS1","ERLIN2","EXOC6B","EXOSC2","EXOSC3","EXOSC8","EXOSC9","EXT2","EXTL3","FAR1","FARSB","FASTKD2","FBLN1","FBLN5","FBN1","FBN2","FBXL3","FBXO11","FBXW11","FDX2","FDXR","FGD4","FGF3","FGFR3","FIG4","FITM2","FKBP14","FKRP","FKTN","FLNA","FLRT1","FLVCR1","FMR1","FNIP1","FOXG1","FOXP1","FRA10AC1","FRMD5","FRMPD4","FTSJ1","FUCA1","FUS","FXR1","FZD4","GAA","GABBR2","GABRA5","GALC","GALE","GALK1","GALNS","GALNT2","GAN","GARS1","GBA1","GBF1","GCK","GDAP1","GEMIN4","GEMIN5","GET4","GFM1","GFPT1","GGPS1","GHR","GJA1","GJB1","GJC2","GLE1","GLRB","GLS","GMNN","GMPPB","GNAI1","GNB5","GNPTAB","GPC3","GPC4","GPSM2","GRB10","GRIA1","GRIA3","GRIA4","GRIK2","GRIN1","GRIN2B","GRM1","GTF2E2","GTPBP2","GUSB","H19","H3-3A","H4C5","HACD1","HADH","HADHA","HADHB","HARS1","HDAC4","HECTD4","HECW2","HELLS","HEPACAM","HERC2","HGSNAT","HIBCH","HID1","HIVEP2","HK1","HMGA2","HNMT","HNRNPK","HOXA1","HPDL","HPRT1","HS2ST1","HS6ST2","HSD17B4","HUWE1","HYCC1","IARS2","IDH1","IFT140","IFT27","IFT52","IFT74","IGF1","IGF1R","IGF2","IL1RN","IL37","IL6ST","INPP5E","INPP5K","INPPL1","INS","IPO8","IQSEC1","ITCH","ITGA7","ITPR1","JAG1","KARS1","KAT6A","KAT6B","KAT8","KATNB1","KBTBD13","KCNA1","KCNA4","KCNC3","KCNJ11","KCNK4","KCNN2","KCNQ2","KDELR2","KDM1A","KDM3B","KDM4B","KDM5B","KDM5C","KDM6B","KIAA0753","KIDINS220","KIF14","KIF21A","KIF7","KLC2","KLHL15","KLHL40","KLHL41","KMT2A","KMT2B","KMT2C","KMT2E","KPNA3","KPTN","KY","LAMA1","LAMA2","LAMB1","LAMB2","LARGE1","LARS1","LARS2","LBR","LIAS","LIG1","LINGO1","LINS1","LMBRD2","LMNA","LMNB1","LMNB2","LMOD3","LMX1B","LNPK","LONP1","LRP4","LRP5","LRRC32","LSS","LTBP1","LTBP4","LYRM4","MACF1","MADD","MAGEL2","MAN1B1","MAN2B1","MAN2C1","MAOA","MAP3K20","MAPK8IP3","MAPRE2","MARS1","MBD5","MBOAT7","MBTPS1","MBTPS2","MCEE","MCM3AP","MDH2","MECP2","MECR","MED12","MED12L","MED13","MED13L","MED27","MEF2C","MEG3","MEGF10","MEGF8","MESD","MFF","MFN2","MICOS13","MICU1","MID1","MINPP1","MKRN3","MKS1","MLC1","MLIP","MMP13","MN1","MORC2","MPDZ","MPV17","MPZ","MRAS","MRPS14","MRPS25","MSL3","MSTO1","MT-ATP6","MT-ATP8","MT-CO1","MT-CO2","MT-CO3","MT-ND1","MT-ND4","MT-ND5","MT-ND6","MT-TE","MT-TF","MT-TH","MT-TL1","MT-TN","MT-TQ","MT-TS1","MT-TS2","MT-TW","MTM1","MTMR14","MTMR2","MTPAP","MUSK","MYF6","MYH3","MYH7","MYL1","MYL2","MYMK","MYO18B","MYO7A","MYO9A","MYOD1","MYPN","MYRF","MYT1L","NAA10","NAA15","NAA20","NALCN","NANS","NARS1","NAT8L","NBEA","NCAPG2","NCDN","NDP","NDRG1","NDST1","NDUFA1","NDUFA12","NDUFA4","NDUFA8","NDUFS2","NEB","NEDD4L","NEFL","NEK1","NEPRO","NEU1","NEUROD2","NEXMIF","NFASC","NFIA","NFIB","NFIX","NGLY1","NHLRC2","NIPA1","NIPA2","NKX2-1","NKX3-2","NKX6-2","NMNAT1","NONO","NOTCH3","NOVA2","NPAP1","NPHP1","NRAS","NRCAM","NSD1","NSRP1","NT5C2","NTNG1","NTNG2","NUBPL","NUDT2","NUS1","ODC1","OGDH","OPA1","OPHN1","ORC6","OTUD6B","P4HTM","PACS2","PAFAH1B1","PAK1","PAK3","PAX7","PBX1","PCBD1","PCDH15","PCDH19","PCYT2","PDE10A","PDK3","PDX1","PET117","PGAP1","PGAP2","PGAP3","PGM1","PGM2L1","PHEX","PHKA2","PHKB","PHKG2","PHOX2A","PI4KA","PIEZO2","PIGC","PIGG","PIGO","PLAG1","PLEC","PLOD1","PLP1","PLPBP","PLXND1","PMP22","PMPCA","PNKP","PNP","PNPLA2","POGZ","POLR1C","POLR1D","POLR2A","POLR3B","POLR3GL","POLR3K","POMGNT1","POMGNT2","POMK","POMT1","POMT2","POR","PPFIBP1","PPIL1","PPP2CA","PPP2R1A","PPP2R5D","PRDM13","PREPL","PRIM1","PRKRA","PRMT7","PRPS1","PRR12","PRX","PSMB1","PSMD12","PSMG2","PTCH1","PTEN","PTH1R","PTPRQ","PTRH2","PTS","PUM1","PURA","PUS7","PWAR1","PWRN1","PYGL","QRICH1","RAB11B","RAB3GAP1","RAB3GAP2","RAC1","RAD51","RAI1","RALA","RALGAPA1","RAPSN","RARS1","RBL2","RBM8A","RBPJ","RECQL4","REPS1","REV3L","RFX7","RIPK4","RNF125","RNF170","RNF220","RNU12","ROBO3","ROGDI","ROR1","RORA","RPL10","RPS23","RPS6KA3","RRAS2","RSPRY1","RSRC1","RTL1","RUBCN","RUSC2","RYR1","RYR3","SAMD9","SARDH","SATB1","SBF2","SCN11A","SCN1A","SCN2A","SCN4A","SCN8A","SCO2","SCYL1","SDHA","SDHAF1","SDHB","SDHD","SEC24D","SELENOI","SELENON","SEMA6B","SEPSECS","SERPINH1","SET","SETBP1","SETD1A","SETD5","SFXN4","SGMS2","SH2B1","SH3PXD2B","SH3TC2","SHANK3","SHMT2","SHOC2","SIAH1","SIGMAR1","SIK3","SIM1","SIN3A","SLC12A2","SLC12A6","SLC16A2","SLC18A2","SLC18A3","SLC1A3","SLC1A4","SLC25A1","SLC25A12","SLC25A15","SLC25A42","SLC25A46","SLC31A1","SLC37A4","SLC39A13","SLC39A8","SLC5A7","SLC6A3","SLC6A8","SLC9A1","SLC9A7","SMARCA2","SMARCAL1","SMARCD1","SMC1A","SMC5","SMPD1","SNAP25","SNORD115-1","SNORD116-1","SNRPN","SNX14","SON","SOX4","SOX5","SP7","SPARC","SPART","SPEG","SPEN","SPG11","SPG21","SPOP","SPR","SPRED1","SPTBN1","SPTBN2","SPTBN4","SPTLC1","SRCAP","SRD5A3","STAC3","STAG2","STAT3","STT3A","STXBP1","SUCLA2","SUCLG1","SUPT16H","SURF1","SVBP","SYNE1","SYNGAP1","SYT1","SYT2","TAF1","TAF8","TAFAZZIN","TANC2","TANGO2","TAOK1","TBC1D24","TBR1","TCF20","TCF4","TENT5A","TET3","TFG","TGFB3","TH","THG1L","TIMM50","TK2","TKFC","TLK2","TMCO1","TMEM106B","TMEM107","TMEM147","TMEM163","TMEM222","TMEM38B","TMEM63A","TMEM63C","TMEM94","TMTC3","TNFRSF11A","TNFRSF11B","TNNC2","TNNT1","TNPO3","TNR","TNRC6B","TOR1A","TPM2","TPM3","TRAF7","TRAPPC10","TRAPPC6B","TRAPPC9","TRIM2","TRIM8","TRIO","TRIP11","TRIP12","TRIP4","TRIT1","TRMT1","TRMT10A","TRMU","TRNT1","TRPM3","TRPV4","TRPV6","TRRAP","TSEN15","TSEN2","TSEN34","TSEN54","TSHB","TSHR","TSPAN12","TSPOAP1","TTC5","TTI2","TTN","TUBA1A","TUBB","TUBB2B","TUBB3","TUBB4A","TUBG1","UBA1","UBA2","UBE2A","UBE3A","UBE3B","UBE3C","UGDH","UGP2","UNC80","UPB1","UQCRFS1","USH1C","VAMP1","VARS1","VDR","VLDLR","VMA21","VPS13B","VPS13D","VPS33A","VPS35L","VPS41","VPS4A","VPS51","VRK1","WAC","WASF1","WASHC4","WDR26","WDR4","WDR45","WDR62","WDR73","WDR81","WLS","WWOX","XYLT1","YARS1","YARS2","YIF1B","YME1L1","YY1","ZBTB11","ZBTB24","ZBTB7A","ZC4H2","ZEB2","ZMIZ1","ZMYND11","ZNF142","ZNF148","ZNF407","ZNF408","ZNF592","ZNF711","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_POLYNEUROPATHY":{"collection":"C5:HPO","systematicName":"M35203","pmid":"","exactSource":"HP:0001271","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001271","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POLYNEUROPATHY","geneSymbols":["ABCD1","AIFM1","ALAD","ARL6IP1","ATP7B","ATXN10","CD59","COQ7","CYP7B1","DARS2","DGUOK","DHH","DMXL2","EDNRB","ERCC6","ERCC8","FUCA1","GCLC","GRM1","GSN","HLA-DQA1","HLA-DQB1","HYCC1","LDB3","LITAF","MT-ATP6","MT-CO3","MT-CYB","MT-ND1","MT-ND2","MT-ND4","MT-ND4L","MT-ND5","MT-ND6","MTRFR","MYD88","MYOT","NAGS","NF1","NF2","NGLY1","OPA1","PDYN","PEX11B","PEX12","PEX7","PMM2","PRPS1","PSAP","PSMC3","RPIA","SEPTIN9","SETX","SLC12A6","SNAP29","SPTBN1","SYNE1","TBC1D24","TMEM70","TTR","UQCRC1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CEREBELLAR_ATROPHY":{"collection":"C5:HPO","systematicName":"M35204","pmid":"","exactSource":"HP:0001272","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001272","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CEREBELLAR_ATROPHY","geneSymbols":["AARS1","AARS2","ABCD1","ABHD12","ACO2","ACTL6B","ACY1","ADPRS","ADSL","AFG3L2","AGTPBP1","AIMP2","ALDH5A1","ALG1","ALG3","ALG9","ANO10","AP3B2","AP4B1","AP4E1","AP4M1","AP4S1","APTX","ARCN1","ARF1","ARG1","ARMC9","ARX","ATAD3A","ATP13A2","ATP1A2","ATP1A3","ATP2B3","ATP5F1A","ATP5F1D","ATP5F1E","ATP5MK","ATP6AP2","ATP6V0A1","ATP6V1A","ATP8A2","ATPAF1","ATPAF2","ATXN1","ATXN10","ATXN2","ATXN3","ATXN7","ATXN8OS","BCAP31","BCAS3","BCL11A","BCORL1","BCS1L","BEAN1","BRAT1","BTD","C19orf12","CACNA1A","CACNA1G","CACNA2D2","CAMK2B","CAMLG","CARS1","CARS2","CASK","CCDC88A","CCDC88C","CDC42","CDKL5","CERS1","CHP1","CIZ1","CKAP2L","CLCN7","CLN3","CLN5","CLN8","CLPB","CLTC","CNP","CNTNAP1","CNTNAP2","COA7","COG1","COG5","COG6","COG7","COG8","COL18A1","COL4A1","COQ2","COQ5","COQ8A","COQ9","COX20","COX4I1","CPLX1","CRAT","CRPPA","CTBP1","CTSD","CTSF","CUL4B","CUX2","CWF19L1","CYB5A","CYB5R3","CYFIP2","CYP27A1","DAB1","DARS2","DCLRE1B","DEGS1","DHCR7","DHX30","DLG4","DMXL2","DNAJC3","DNM1L","DNMT1","DOHH","DPM1","EBF3","EEF2","ELOVL4","ELOVL5","EMC1","EPRS1","ERCC2","ERCC3","ERCC6","ERCC8","EXOSC2","EXOSC3","EXOSC5","EXOSC9","FA2H","FAR1","FARS2","FAT2","FBXL4","FCSK","FDXR","FGF12","FGF14","FKRP","FKTN","FMR1","FOXRED1","FRRS1L","GAD1","GBA2","GDAP2","GEMIN5","GFAP","GFM2","GJB1","GLS","GNAO1","GNS","GON7","GPAA1","GRIA2","GRID2","GRIK2","GRIN1","GRM1","GRM7","GRN","GTF2E2","GTF2H5","GTPBP2","HDAC4","HEPACAM","HERC1","HEXB","HK1","HSD17B4","HTT","IBA57","IFIH1","IFRD1","IRF2BPL","ITPR1","KAT5","KATNB1","KCNA1","KCNC1","KCNC3","KCND3","KCNJ10","KCNMA1","KCTD7","KIF1A","KIF1C","KY","L2HGDH","LAGE3","LAMA2","LETM1","LIG3","LIPT1","LMX1B","LNPK","LYRM7","LYST","MAG","MAN2B1","MAPK8IP3","MARS2","MCOLN1","MDH2","MECR","MED11","MED27","MFF","MFSD8","MGME1","MICOS13","MME","MORC2","MPLKIP","MRE11","MRM2","MRPS34","MT-ATP6","MT-ATP8","MTHFS","MVK","MYH3","NADK2","NALCN","NARS2","NDE1","NDUFA1","NDUFA13","NDUFA8","NDUFA9","NDUFAF4","NDUFS1","NDUFS4","NEUROD2","NFASC","NGLY1","NKX6-2","NMNAT1","NODAL","NOP56","NOTCH2NLC","NPTX1","NUP214","OPA1","OPA3","OSGEP","PACS1","PCLO","PCNA","PDYN","PEX10","PEX16","PEX2","PEX6","PI4KA","PIGA","PIGG","PIGK","PIGN","PIGP","PIGQ","PIGS","PIGT","PIGU","PIK3R5","PITRM1","PLA2G6","PLAA","PLCH1","PLD3","PLK4","PLP1","PMM2","PMPCA","PMPCB","PNKP","PNPLA6","PNPT1","POGZ","POLA1","POLG","POLG2","POLR1C","POLR3A","POLR3B","POLR3K","POMT1","PPP2R2B","PRDX3","PRKCG","PRNP","PRRT2","PRUNE1","PTRH2","PUM1","QARS1","RARS2","RBL2","RELN","REPS1","RFC1","RNASEH1","RNASEH2A","RNF113A","RNF13","RNF170","RNF216","RNU12","RORA","RRM2B","RTTN","RUBCN","SACS","SAMD9L","SC5D","SCARB2","SCN1A","SCN1B","SCN2A","SCN8A","SCO2","SCYL1","SDHA","SEMA6B","SEPSECS","SERAC1","SETX","SH3TC2","SHANK3","SHQ1","SIK1","SIL1","SLC13A3","SLC1A3","SLC25A22","SLC25A4","SLC25A46","SLC31A1","SLC32A1","SLC33A1","SLC35A2","SLC35B2","SLC39A14","SLC39A8","SLC44A1","SLC5A6","SLC9A1","SLC9A6","SNX14","SOD1","SOX4","SPART","SPG21","SPG7","SPTAN1","SPTBN2","SQSTM1","SRD5A3","STT3A","STT3B","STUB1","STXBP1","SUMF1","SYNE1","SYT14","TAF1","TARS1","TBC1D20","TBC1D24","TBC1D2B","TBCD","TBCE","TBP","TDP1","TECPR2","TGM6","TK2","TMEM240","TMX2","TOP3A","TOR1A","TPP1","TRAPPC11","TRAPPC4","TRAPPC6B","TRIM8","TRMT1","TRPC3","TSEN2","TTBK2","TTC19","TTPA","TUBB","TUBB2B","TUBB4A","TWNK","TXN2","UBA5","UBTF","UCHL1","UFM1","VARS1","VLDLR","VPS11","VPS13D","VPS41","VPS4A","VPS50","VPS53","VWA3B","WARS2","WDR4","WDR45","WDR73","WDR81","WWOX","XRCC1","XRCC4","YIF1B","YRDC","ZIC1","ZMIZ1","ZNF335","ZNHIT3","ZPR1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CORPUS_CALLOSUM_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M35205","pmid":"","exactSource":"HP:0001273","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001273","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CORPUS_CALLOSUM_MORPHOLOGY","geneSymbols":["AARS1","ABAT","ABHD16A","ACER3","ACO2","ACTB","ACTG1","ACTL6B","ACY1","ADAR","ADARB1","ADAT3","ADCY5","ADNP","AGTPBP1","AHCY","AHDC1","AHI1","AHSG","AIFM1","AIMP1","AIMP2","AKT3","ALDH18A1","ALDH6A1","ALDH7A1","ALG12","ALG2","ALG3","ALG8","ALX1","ALX3","ALX4","AMER1","AMFR","AMPD2","AMT","ANKLE2","ANKRD11","AP1G1","AP3B2","AP4B1","AP4E1","AP4M1","AP4S1","AP5Z1","APC2","ARFGEF2","ARHGAP31","ARID1A","ARID1B","ARID2","ARL13B","ARL3","ARMC9","ARNT2","ARSI","ARV1","ARX","ASNS","ASPM","ASXL1","ASXL3","ATAD3A","ATG7","ATL1","ATN1","ATP11A","ATP13A2","ATP1A2","ATP1A3","ATP6AP2","ATP6V1A","ATP8A2","ATP9A","ATPAF2","ATRX","B3GALNT2","B3GLCT","B4GAT1","B9D1","B9D2","BCAP31","BCAS3","BCL11B","BCOR","BICD2","BLTP1","BMP4","BRAF","BRAT1","BRF1","BRPF1","BUB1","BUB1B","BUB3","C12orf57","C2CD3","C2orf69","CACNA1A","CACNA1B","CACNA1E","CACNA1I","CACNA2D1","CAMK2A","CAMLG","CAMSAP1","CARS1","CARS2","CASK","CASZ1","CBY1","CC2D2A","CCDC174","CCDC47","CCDC88A","CCND2","CD96","CDC40","CDC42","CDC42BPB","CDH2","CDK10","CDK13","CDK19","CDK5","CDK5RAP2","CDK6","CDK8","CDKL5","CDON","CELF2","CENPE","CENPF","CENPJ","CEP104","CEP120","CEP135","CEP152","CEP290","CEP41","CEP57","CEP63","CEP85L","CFC1","CHD3","CHKA","CHMP1A","CILK1","CIT","CLCN3","CLCN4","CLN5","CLP1","CLTC","CNKSR2","CNOT1","CNOT3","CNP","CNTNAP1","COASY","COG2","COG4","COG6","COG7","COL4A1","COPB2","COX7B","CPLANE1","CPLX1","CPSF3","CPT2","CREBBP","CRIPT","CRPPA","CSF1R","CSPP1","CTBP1","CTNNA2","CTNNB1","CTU2","CUL4B","CWF19L1","CYFIP2","CYP11A1","CYP2U1","DACT1","DAG1","DALRD3","DARS1","DARS2","DCC","DCHS1","DCX","DDB1","DDHD2","DDX3X","DDX59","DDX6","DEAF1","DENND5A","DHCR24","DHCR7","DHDDS","DHX16","DIAPH1","DIS3L2","DISC1","DISP1","DLL1","DMXL2","DNAJB4","DNAL4","DNM1","DNM1L","DOCK7","DOHH","DONSON","DPAGT1","DPF2","DPH1","DPH2","DPYD","DPYSL5","DYNC1H1","DYNC1I2","DYNC2H1","DYNC2I1","DYNC2I2","DYRK1A","EARS2","EBP","ECHS1","EEF1A2","EFNB1","EHMT1","EIF2AK2","EIF2B4","EIF2S3","EMC1","EML1","EMX2","EOMES","EP300","EPG5","EPRS1","ERCC2","ERCC3","ERCC5","ERCC6","ERLIN2","ERMARD","EXOC2","EXOC7","EXOC8","EXOSC1","EXOSC3","EXOSC8","EXOSC9","EXTL3","FA2H","FAM149B1","FANCB","FANCD2","FANCI","FAR1","FAT4","FBXL4","FBXO28","FBXW11","FCSK","FDFT1","FDXR","FGF12","FGF13","FGF8","FGFR1","FGFR2","FGFR3","FGFRL1","FH","FIG4","FKRP","FKTN","FLCN","FLI1","FLII","FLNA","FLVCR2","FOXA2","FOXG1","FOXH1","FRA10AC1","FRMD4A","FRMPD4","FZR1","GABBR2","GABRA2","GABRA5","GABRB1","GABRB2","GABRD","GABRG2","GAD1","GALC","GAS1","GBA1","GBA2","GDF1","GET4","GFER","GFM1","GFM2","GGT1","GJC2","GLB1","GLDC","GLI2","GLI3","GLRX5","GLUL","GLYCTK","GMPPB","GNAO1","GNPTAB","GOLGA2","GON7","GOT2","GPC3","GPC4","GPKOW","GPSM2","GPT2","GPX4","GRIA3","GRIA4","GRIK2","GRIN1","GRIN2A","GRIN2D","GRM7","GTF2E2","GTF2H5","GTPBP2","H1-4","H3-3A","HACE1","HCCS","HCN1","HDAC4","HECTD4","HERC1","HESX1","HHAT","HIBCH","HIC1","HID1","HIVEP2","HK1","HNRNPK","HNRNPR","HNRNPU","HPDL","HRAS","HS2ST1","HSD17B4","HSPA9","HSPG2","HTRA2","HUWE1","HYLS1","IBA57","IDS","IER3IP1","IFIH1","IFT140","IFT27","IFT52","IFT74","IFT80","IGBP1","IGF1R","INPP5E","IQSEC2","IRF2BPL","ITGB6","ITPR1","KANSL1","KAT5","KAT6B","KAT8","KATNB1","KATNIP","KCNA1","KCNA2","KCNAB2","KCNB1","KCNK4","KCNQ2","KCNT1","KCNT2","KCTD7","KDM1A","KDM3B","KDM4B","KDM5B","KIAA0586","KIAA0753","KIDINS220","KIF14","KIF15","KIF26A","KIF2A","KIF5A","KIF5C","KIF7","KIFBP","KMT2A","KMT2C","KMT2E","KNL1","KPNA3","KRAS","L1CAM","L2HGDH","LAMB1","LARGE1","LETM1","LHX3","LHX4","LIG3","LIG4","LMBR1","LMBRD2","LMNB1","LMNB2","LNPK","LONP1","LRP2","LRPPRC","LRRC32","LSM11","LSS","LUZP1","LYRM7","LYSET","MACF1","MAF","MAG","MAN2B1","MAN2C1","MAP1B","MAP2K2","MAPK8IP3","MAPKAPK5","MAPRE2","MAST1","MAST3","MBTPS2","MCM7","MCOLN1","MCPH1","MDH1","MDH2","MED12","MED12L","MED23","MED25","MED27","MEF2C","METTL5","MFSD2A","MID1","MINPP1","MKS1","MLH1","MMP23B","MOCS1","MOCS2","MOGS","MPDZ","MPLKIP","MRPS16","MRPS22","MRPS25","MT-CO1","MT-CO2","MT-CO3","MT-CYB","MT-ND1","MT-ND4","MT-ND5","MT-ND6","MT-TF","MT-TH","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TW","MTHFR","MTHFS","MTOR","MTRFR","MYT1L","NAA10","NADK2","NAE1","NALCN","NANS","NARS1","NARS2","NCAPD3","NDE1","NDUFA2","NDUFA8","NDUFAF5","NDUFB11","NDUFB7","NECAP1","NEDD4L","NELFA","NEUROD2","NEXMIF","NF1","NFIA","NFIB","NFIX","NHLRC2","NKX2-1","NKX6-2","NMNAT1","NODAL","NONO","NOVA2","NPHP1","NR2F1","NRAS","NRCAM","NRROS","NSD1","NSD2","NSRP1","NSUN2","NT5C2","NTN1","NTRK2","NUDT2","NUP188","NUP37","NUS1","OCA2","ODC1","OFD1","OGDHL","OPA1","OSGEP","OSTM1","OTUD5","OTUD6B","OTX2","PACS2","PAFAH1B1","PAH","PARS2","PAX6","PCGF2","PCLO","PCNT","PDE6D","PDHA1","PDHB","PDHX","PDPN","PDYN","PEX1","PEX16","PEX2","PGAP1","PGAP2","PGAP3","PHC1","PHGDH","PI4KA","PIBF1","PIEZO2","PIGA","PIGB","PIGG","PIGH","PIGL","PIGN","PIGP","PIGQ","PIGU","PIK3C2A","PIK3R2","PITX1","PLAA","PLCB1","PLCH1","PLK4","PLP1","PLPBP","PLXNA1","PMS2","PNKP","PNPT1","POGZ","POLG2","POLR1C","POLR2A","POLR3A","POLR3B","POLR3GL","POLR3K","POLRMT","POMGNT1","POMGNT2","POMK","POMT1","POMT2","PORCN","POU1F1","POU3F3","PPFIBP1","PPIL1","PPP1R12A","PPP1R15B","PPP1R21","PPP2CA","PPP2R1A","PPP2R3C","PPP2R5D","PPP3CA","PRDM16","PRKCZ","PRKDC","PRMT7","PROKR2","PROP1","PRORP","PRPS1","PRRX1","PRUNE1","PSAP","PSAT1","PTCH1","PTDSS1","PTPN23","PUF60","PUS3","PYCR1","PYCR2","QARS1","RAB11B","RAB18","RAB23","RAB3GAP1","RAB3GAP2","RAC1","RAC3","RAD51","RAI1","RALGAPA1","RARS1","RB1","RBL2","RBM10","RECQL4","RELN","REPS1","RERE","RHOBTB2","RMND1","RNASEH2A","RNASEH2B","RNASEH2C","RNF113A","RNF13","RNF220","RNU12","RNU4ATAC","RNU7-1","ROBO1","RORA","RPGRIP1","RPGRIP1L","RPS6KA3","RSPO2","RSPRY1","RTTN","RUSC2","RXYLT1","SACS","SALL1","SAMHD1","SARS1","SASS6","SCN1A","SCN1B","SCN2A","SCN3A","SCN8A","SCYL2","SEC31A","SEPSECS","SETBP1","SETD2","SF3B2","SH3PXD2B","SHANK3","SHH","SHMT2","SHOC2","SIK1","SIN3A","SIN3B","SIX3","SIX6","SKI","SLC12A2","SLC12A5","SLC12A6","SLC13A5","SLC1A2","SLC1A4","SLC25A1","SLC25A10","SLC25A19","SLC25A22","SLC25A24","SLC25A46","SLC30A9","SLC32A1","SLC35A2","SLC35B2","SLC38A3","SLC5A6","SLC6A8","SLC6A9","SLC9A6","SLITRK2","SMARCA2","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SMC1A","SMG9","SMO","SNAP29","SNIP1","SON","SOX11","SOX2","SOX3","SOX4","SPATA5","SPATA5L1","SPEN","SPG11","SPG21","SPTAN1","SRPX2","SSR4","STAG2","STAMBP","STIL","STUB1","STXBP1","SUFU","SUPT16H","SUZ12","SVBP","SYNGAP1","SYNJ1","SYT2","SZT2","TAF1","TAF13","TAF2","TAF8","TARS1","TARS2","TBC1D20","TBC1D23","TBC1D24","TBC1D7","TBCD","TBCE","TBCK","TCF12","TCF4","TCTN1","TCTN2","TCTN3","TDGF1","TECPR2","TGFB1","TGIF1","THOC6","THUMPD1","TIAM1","TMCO1","TMEM106B","TMEM107","TMEM138","TMEM147","TMEM216","TMEM218","TMEM231","TMEM237","TMEM260","TMEM67","TMEM70","TMTC3","TMX2","TNR","TOE1","TOGARAM1","TOPORS","TP73","TRAK1","TRAPPC10","TRAPPC12","TRAPPC14","TRAPPC6B","TRAPPC9","TREM2","TREX1","TRIM8","TRIP13","TRMT10A","TRRAP","TSEN15","TSEN2","TSEN34","TSEN54","TTC5","TTI2","TUBA1A","TUBA8","TUBB","TUBB2A","TUBB2B","TUBB3","TUBG1","TUBGCP2","TXNDC15","TYROBP","UBA5","UBE3A","UBE3B","UBE3C","UBE4B","UBTF","UGP2","UNC80","UPF3B","USP7","USP9X","VAC14","VAMP2","VANGL2","VARS1","VARS2","VAX1","VPS11","VPS13B","VPS41","VPS4A","VPS50","VPS51","VPS53","VRK1","VWA3B","WAC","WARS1","WDR26","WDR35","WDR4","WDR45B","WDR62","WDR73","WDR81","WLS","WNT3","WT1","WWOX","YARS1","YIF1B","YWHAE","YWHAG","YY1","ZBTB18","ZBTB20","ZDHHC9","ZEB2","ZFR","ZFYVE26","ZIC1","ZIC2","ZMIZ1","ZNF148","ZNF335","ZNF423","ZNF462","ZNF526","ZNF699","ZNHIT3","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_AGENESIS_OF_CORPUS_CALLOSUM":{"collection":"C5:HPO","systematicName":"M35206","pmid":"","exactSource":"HP:0001274","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001274","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AGENESIS_OF_CORPUS_CALLOSUM","geneSymbols":["AARS1","ABAT","ACTB","ACTG1","ADAT3","AHI1","ALX1","ALX3","ALX4","AMER1","AMT","ANKLE2","AP1G1","ARID1A","ARID1B","ARID2","ARMC9","ARNT2","ARX","ASPM","ASXL1","ATRX","B3GALNT2","B3GLCT","B4GAT1","BCL11B","BMP4","BUB1B","C12orf57","C2CD3","CAMSAP1","CARS1","CASZ1","CC2D2A","CDC40","CDC42BPB","CDH2","CDK13","CDK5","CDK5RAP2","CDK6","CDK8","CDON","CENPE","CENPF","CENPJ","CEP120","CEP135","CEP152","CEP41","CEP63","CFC1","CILK1","CIT","CLCN3","CNOT1","COL4A1","COPB2","COX7B","CPLANE1","CPLX1","CPT2","CREBBP","CRPPA","CSF1R","CTBP1","CTU2","CWF19L1","CYP11A1","DACT1","DAG1","DCC","DCHS1","DCX","DDX3X","DDX59","DHCR24","DHCR7","DHX16","DIS3L2","DISC1","DISP1","DLL1","DNAL4","DNM1","DPF2","DPH1","DPH2","DPYD","DPYSL5","DYNC1I2","DYNC2H1","DYNC2I1","DYNC2I2","EARS2","EFNB1","EHMT1","EML1","EMX2","EOMES","EP300","EPG5","ERCC2","ERCC3","ERCC5","ERCC6","FANCD2","FANCI","FAT4","FCSK","FGF8","FGFR1","FGFR2","FGFRL1","FH","FIG4","FKRP","FKTN","FLI1","FLVCR2","FOXA2","FOXG1","FOXH1","FRA10AC1","FRMD4A","GABRD","GAS1","GDF1","GET4","GGT1","GLDC","GLI2","GLI3","GMPPB","GPC3","GPC4","GPSM2","GPX4","GTF2E2","GTF2H5","H3-3A","HCCS","HECTD4","HESX1","HIBCH","HNRNPK","HNRNPR","HNRNPU","HS2ST1","HSPA9","HSPG2","HYLS1","IFT80","IGBP1","INPP5E","KANSL1","KAT5","KAT6B","KATNB1","KCNAB2","KDM4B","KDM5B","KIAA0753","KIDINS220","KIF14","KIF15","KIF26A","KIF7","KNL1","KRAS","L1CAM","LARGE1","LETM1","LHX3","LHX4","LMNB2","LONP1","LRP2","LRPPRC","LRRC32","LUZP1","MAN2C1","MBTPS2","MCM7","MCPH1","MDH1","MED12","MED12L","MED25","METTL5","MFSD2A","MID1","MKS1","MLH1","MMP23B","MPDZ","MPLKIP","MRPS16","MRPS25","MT-CO1","MT-CO2","MT-CO3","MT-CYB","MT-ND1","MT-ND4","MT-ND5","MT-ND6","MT-TF","MT-TH","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TW","MTHFR","NARS2","NCAPD3","NDE1","NDUFAF5","NDUFB11","NELFA","NFIA","NFIB","NFIX","NKX2-1","NODAL","NPHP1","NSD1","NSD2","NTN1","NUP37","OFD1","OSTM1","OTUD5","OTX2","PDHA1","PDHB","PDHX","PDPN","PDYN","PEX2","PGAP1","PHC1","PHGDH","PIEZO2","PIGG","PIGN","PLCH1","PLK4","PLXNA1","PMS2","POLR2A","POLR3A","POMGNT1","POMGNT2","POMK","POMT1","POMT2","PORCN","POU1F1","PPIL1","PPP1R12A","PPP2R1A","PPP2R3C","PRDM16","PRKCZ","PROKR2","PROP1","PRRX1","PTCH1","PTDSS1","PUF60","PYCR1","PYCR2","RAB3GAP1","RAB3GAP2","RAC3","RAD51","RECQL4","RELN","RERE","RNF113A","RNU4ATAC","ROBO1","RPGRIP1L","RSPO2","RTTN","RXYLT1","SALL1","SARS1","SASS6","SCYL2","SEC31A","SF3B2","SHANK3","SHH","SIX3","SIX6","SKI","SLC12A2","SLC12A6","SLC25A1","SLC25A19","SLC30A9","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SMC1A","SMO","SOX11","SOX2","SOX3","SOX4","SPEN","SPG11","STAG2","STIL","SUFU","SUPT16H","SUZ12","TAF13","TARS1","TBC1D23","TCF12","TCTN3","TDGF1","TGIF1","THUMPD1","TMEM237","TMEM260","TNR","TP73","TRAPPC10","TRAPPC12","TRAPPC14","TTC5","TUBA1A","TUBA8","TUBB","TUBB2B","TUBB3","UBE4B","VAC14","VANGL2","VAX1","WARS1","WDR35","WDR4","WDR62","WNT3","YARS1","YY1","ZBTB18","ZEB2","ZIC1","ZIC2","ZNF148","ZNF335","ZNF462","ZNF699","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPERTONIA":{"collection":"C5:HPO","systematicName":"M35207","pmid":"","exactSource":"HP:0001276","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001276","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERTONIA","geneSymbols":["AARS1","AARS2","AASS","ABCA12","ABCA7","ABCC8","ABCD1","ABHD12","ABHD16A","ACADS","ACAT1","ACD","ACER3","ACOX1","ACP5","ACTA1","ACTL6B","ADAM22","ADAR","ADARB1","ADAT3","ADCY5","ADD3","ADGRG1","ADH1C","ADNP","ADSL","AFF3","AFG3L2","AGA","AGTPBP1","AIFM1","AIMP1","ALDH18A1","ALDH3A2","ALG11","ALG3","ALG9","ALS2","AMACR","AMFR","AMPD2","ANG","ANK3","ANKLE2","ANXA11","AP1G1","AP1S2","AP3B2","AP4B1","AP4E1","AP4M1","AP4S1","AP5Z1","APC","APC2","APOE","APP","ARF1","ARG1","ARHGAP31","ARHGEF9","ARL13B","ARL6IP1","ARNT2","ARSA","ARSI","ARV1","ARX","ASAH1","ASNS","ASPA","ASXL1","ASXL2","ASXL3","ATAD1","ATAD3A","ATL1","ATM","ATN1","ATP13A2","ATP1A2","ATP1A3","ATP2B3","ATP5F1A","ATP5F1D","ATP5F1E","ATP5MC3","ATP5MK","ATP6AP2","ATP6V0A1","ATP6V0A2","ATP6V1A","ATP6V1E1","ATP7A","ATP7B","ATPAF1","ATPAF2","ATRX","ATXN1","ATXN10","ATXN2","ATXN3","ATXN7","ATXN8OS","AUH","AUTS2","B3GALNT2","B4GALNT1","B4GAT1","BAZ1B","BCAS3","BCKDHA","BCKDHB","BCL11B","BCL7B","BCOR","BCS1L","BEAN1","BICD2","BMPR1A","BOLA3","BRAF","BRAT1","BRD4","BRF1","BSCL2","BTD","BUD23","C12orf57","C19orf12","C2orf69","CACNA1A","CACNA1B","CACNA1C","CACNA1D","CACNA1E","CACNA1G","CACNA2D1","CAMK2A","CAMK2B","CAMLG","CAMSAP1","CAPN1","CARS1","CARS2","CASK","CCDC88C","CCNF","CCT5","CDC40","CDC42BPB","CDK19","CDKL5","CDON","CELF2","CEP85L","CFAP410","CHCHD10","CHCHD2","CHKA","CHMP1A","CHMP2B","CHP1","CIT","CKAP2L","CLCF1","CLCN3","CLCN4","CLDN11","CLIC2","CLIP2","CLN3","CLN5","CLN8","CLP1","CLPB","CLTC","CNKSR2","CNOT1","CNP","CNPY3","CNTNAP1","CNTNAP2","COA8","COASY","COG2","COG4","COL4A1","COL4A2","COLGALT1","COPB1","COPB2","COQ2","COQ5","COQ9","COX11","COX15","COX8A","CP","CPSF3","CPT1C","CRLF1","CRPPA","CRYAB","CSF1R","CTC1","CTNNA2","CTNNB1","CTSD","CYB5A","CYB5R3","CYFIP2","CYP27A1","CYP2U1","CYP7B1","DAB1","DALRD3","DAO","DARS1","DARS2","DBT","DCTN1","DCX","DDB2","DDC","DDHD1","DDHD2","DDX3X","DEGS1","DENND5A","DHCR24","DHCR7","DHDDS","DHPS","DISP1","DKC1","DLAT","DLD","DLL1","DLL4","DMXL2","DNAJC12","DNAJC13","DNAJC19","DNAJC30","DNAJC6","DNM1","DNM1L","DNMT1","DOCK6","DPAGT1","DPH5","DPM1","DPYD","DSTYK","DTYMK","DYM","DYNC1H1","DYNC1I2","DYRK1A","EARS2","EBP","ECHS1","EDNRB","EED","EEF1A2","EIF2AK1","EIF2AK2","EIF2AK3","EIF2B1","EIF2B2","EIF2B4","EIF2S3","EIF4G1","EIF4H","ELN","ELOVL1","ELOVL4","ELP2","EMC1","EML1","ENTPD1","EOGT","EPCAM","EPHA4","EPM2A","EPRS1","ERBB4","ERCC1","ERCC2","ERCC3","ERCC4","ERCC5","ERCC6","ERCC8","ERLIN1","ERLIN2","EXOC2","EXOC8","EXOSC3","EXOSC5","EXOSC8","EXOSC9","EXTL3","EYA1","EZH2","FA2H","FAN1","FAR1","FARS2","FBLN1","FBXO28","FBXO7","FBXW11","FCSK","FDX2","FDXR","FGF12","FGF13","FGF8","FGFR1","FIG4","FKBP6","FKRP","FKTN","FLNA","FLRT1","FMR1","FOXG1","FOXH1","FOXP1","FOXRED1","FRMD4A","FRMD5","FRMPD4","FRRS1L","FTL","FTO","FUCA1","FUS","FXN","FZR1","GABBR2","GABRA1","GABRA2","GABRA5","GABRB2","GABRG2","GAD1","GALC","GAMT","GAN","GAS1","GATAD2B","GBA1","GBA2","GBE1","GCDH","GCH1","GDAP2","GEMIN4","GFAP","GFM1","GFM2","GIGYF2","GJA1","GJB1","GJC2","GLB1","GLE1","GLI2","GLRA1","GLRB","GLRX5","GLT8D1","GLUD2","GLYCTK","GM2A","GMPPA","GMPPB","GNAI1","GNAO1","GNB1","GON7","GOT2","GPAA1","GPHN","GPT2","GRIA2","GRIA3","GRIA4","GRIK2","GRIN1","GRIN2A","GRIN2B","GRIN2D","GRM1","GRM7","GSS","GSX2","GTF2E2","GTF2H5","GTF2I","GTF2IRD1","GTF2IRD2","GTPBP2","GUF1","H1-4","H3-3A","H4C5","HACE1","HCN1","HDAC8","HECTD4","HEPACAM","HEXA","HEXB","HID1","HIKESHI","HK1","HLA-DQB1","HLA-DRB1","HLCS","HMGCL","HNRNPA1","HNRNPH2","HPDL","HPRT1","HS2ST1","HSD17B10","HSD17B4","HSPD1","HSPG2","HTRA1","HTRA2","HTT","HUWE1","IARS1","IBA57","IDUA","IFIH1","IKBKG","IMPDH2","INPP5E","INPP5K","INTS8","IREB2","IRF2BPL","ISCA1","ISCA2","ITM2B","JAM2","JAM3","JPH3","KANK1","KARS1","KAT6A","KATNB1","KCNA1","KCNA2","KCNA4","KCNB1","KCNC2","KCNC3","KCND3","KCNJ6","KCNN2","KCNQ2","KCNQ3","KCNT1","KDM1A","KDM5C","KIDINS220","KIF11","KIF1A","KIF1C","KIF2A","KIF5A","KIF5C","KIFBP","KLC2","KMT2B","KPNA3","KRAS","KY","KYNU","L1CAM","L2HGDH","LAGE3","LAMB1","LARGE1","LBR","LDHA","LETM1","LIAS","LIMK1","LINGO1","LIPT1","LIPT2","LMBRD2","LMNB1","LMX1B","LNPK","LOXL1","LRPPRC","LRRK2","LSM11","LYRM7","LYST","MACF1","MAG","MAN2B1","MAPK8IP3","MAPT","MARS1","MARS2","MATR3","MBOAT7","MCCC1","MCCC2","MCEE","MCOLN1","MDH1","MECP2","MECR","MED11","MED12","MED13L","MED17","MED23","MED25","MED27","METTL27","METTL5","MFF","MFN2","MFSD2A","MGAT2","MICOS13","MICU1","MINPP1","MIPEP","MLC1","MLH1","MLH3","MLXIPL","MME","MOCS1","MOCS2","MORC2","MPDU1","MPLKIP","MRE11","MRM2","MRPS22","MRPS34","MSH2","MSH6","MSL3","MT-ATP6","MT-ATP8","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND5","MT-ND6","MT-TF","MT-TI","MT-TK","MT-TL1","MT-TP","MT-TT","MT-TV","MT-TW","MTFMT","MTHFR","MTHFS","MTO1","MTPAP","MTRFR","MTRR","MYO5A","NAA10","NACC1","NADK2","NAGA","NALCN","NARS1","NARS2","NAXD","NAXE","NCAPD3","NCAPG2","NCF1","NDE1","NDP","NDUFA13","NDUFA2","NDUFA4","NDUFA6","NDUFA8","NDUFA9","NDUFAF3","NDUFAF4","NDUFAF5","NDUFAF6","NDUFC2","NDUFS4","NDUFV1","NDUFV2","NECAP1","NEFH","NEFL","NEK1","NEU1","NEUROD2","NEXMIF","NFASC","NFIX","NFU1","NHLRC1","NIPA1","NIPBL","NKX6-2","NODAL","NOP56","NOTCH1","NOTCH2NLC","NOTCH3","NOVA2","NPC1","NPC2","NPHP3","NR2F1","NR4A2","NSD1","NSRP1","NSUN2","NT5C2","NTNG1","NTNG2","NTRK2","NUBPL","NUP107","NUP133","NUP214","NUP54","NUP62","NUS1","OCLN","ODC1","OGDH","OGDHL","OPA1","OPA3","OPHN1","OPTN","OSGEP","OSTM1","OTUD6B","PACS2","PAFAH1B1","PAH","PANK2","PARK7","PARN","PARS2","PAX1","PAX3","PCBD1","PCCA","PCCB","PCDH12","PCDH19","PCLO","PCYT2","PDCD1","PDE8B","PDGFB","PDGFRB","PDHX","PET100","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PEX7","PFN1","PGAP1","PHACTR1","PHGDH","PI4KA","PIEZO2","PIGA","PIGN","PIGP","PIGQ","PIGU","PIK3CA","PINK1","PITX3","PLA2G6","PLAA","PLCB1","PLCH1","PLK4","PLP1","PLPBP","PMPCA","PMPCB","PMS1","PMS2","PNKD","PNKP","PNP","PNPLA6","PNPLA8","PNPO","PNPT1","PODXL","POLA1","POLG","POLG2","POLR1C","POLR3A","POLR3B","POLR3GL","POMGNT1","POMT1","POMT2","PON1","PON2","PON3","POU3F3","PPARGC1A","PPFIBP1","PPIL1","PPP1R15B","PPP3CA","PPT1","PQBP1","PRDM13","PRDM8","PRF1","PRKCG","PRKN","PRNP","PRORP","PRPH","PRPS1","PRRT2","PRUNE1","PSAP","PSAT1","PSEN1","PSEN2","PSMC1","PSPH","PTCD3","PTCH1","PTPN23","PTS","PUM1","PYCR2","QDPR","RAB11B","RAB18","RAB27A","RAB39B","RAB3GAP1","RAB3GAP2","RAD21","RAD50","RALGAPA1","RANBP2","RARS1","RARS2","RBPJ","REEP1","REEP2","REPS1","RERE","RETREG1","RFC2","RFT1","RHOBTB2","RLIM","RNASEH2A","RNASEH2B","RNASEH2C","RNASET2","RNF113A","RNF13","RNF170","RNF220","RNU4ATAC","RNU7-1","ROGDI","RPIA","RPS20","RPS6KA3","RRM2B","RTEL1","RTN2","RTTN","RUSC2","RYR1","SACS","SAMHD1","SATB1","SATB2","SCN1A","SCN1B","SCN2A","SCN3A","SCN4A","SCN8A","SCN9A","SCYL1","SCYL2","SDHA","SDHAF1","SDHB","SDHD","SEC31A","SELENOI","SEMA4A","SEMA6B","SEPSECS","SERAC1","SETBP1","SETX","SHH","SHMT2","SHQ1","SIGMAR1","SIK1","SIL1","SIX3","SIX6","SLC12A2","SLC12A5","SLC12A6","SLC13A5","SLC16A2","SLC17A5","SLC18A2","SLC19A3","SLC1A2","SLC1A3","SLC1A4","SLC20A2","SLC25A10","SLC25A12","SLC25A15","SLC25A19","SLC25A22","SLC25A4","SLC25A46","SLC2A1","SLC2A3","SLC30A10","SLC30A9","SLC31A1","SLC32A1","SLC33A1","SLC35A2","SLC35C1","SLC38A3","SLC39A14","SLC5A6","SLC6A19","SLC6A3","SLC6A5","SLC6A8","SLC6A9","SLF2","SLITRK2","SMC1A","SMC3","SMG9","SMPD1","SMPD4","SNCA","SNCAIP","SNORD118","SNX14","SOD1","SON","SORL1","SOX10","SOX2","SOX4","SPART","SPAST","SPATA5","SPATA5L1","SPG11","SPG21","SPG7","SPOP","SPR","SPTAN1","SPTBN1","SPTBN2","SPTLC1","SQSTM1","SRD5A3","SRPX2","STAG2","STAMBP","STIL","STN1","STT3A","STUB1","STX1A","STXBP1","SUCLA2","SUCLG1","SUMF1","SUOX","SUZ12","SVBP","SYNE1","SYNGAP1","SYNJ1","SZT2","TACO1","TAF1","TAF15","TAF2","TAF8","TANGO2","TARDBP","TARS1","TARS2","TBC1D20","TBC1D23","TBC1D24","TBCD","TBCE","TBK1","TBL1XR1","TBL2","TBP","TCEAL1","TCF20","TCTN2","TDGF1","TDP1","TECPR2","TELO2","TERT","TFG","TGFB1","TGFBR2","TGIF1","TH","THOC2","TIMM50","TIMM8A","TINF2","TK2","TMEM106B","TMEM222","TMEM231","TMEM240","TMEM270","TMEM63C","TMEM67","TMTC3","TMX2","TNPO2","TNR","TOE1","TOMM40","TOR1A","TP53","TP53RK","TPI1","TPK1","TPRKB","TRAF7","TRAK1","TRAPPC12","TRAPPC4","TREM2","TREX1","TRIM8","TRIT1","TRMT10A","TRMT5","TSEN15","TSEN2","TSEN34","TSEN54","TSPOAP1","TTC19","TTC26","TTPA","TTR","TUBA1A","TUBB3","TUBB4A","TUBG1","TUBGCP2","TUBGCP4","TUBGCP6","TUFM","TWNK","TXN2","TYROBP","UBA5","UBAP1","UBE4A","UBQLN2","UBTF","UCHL1","UFC1","UFM1","UFSP2","UGDH","UGP2","UNC13A","UNC80","UQCRC1","USP8","VAC14","VAMP1","VAPB","VARS2","VCP","VPS11","VPS13A","VPS13C","VPS13D","VPS35","VPS37A","VPS37D","VPS41","VPS4A","VPS50","VPS53","VRK1","VWA3B","WARS1","WARS2","WASHC4","WASHC5","WDR26","WDR4","WDR45","WDR45B","WDR48","WDR62","WDR73","WLS","WWOX","XPA","XPC","YIF1B","YRDC","YWHAG","ZBTB11","ZC4H2","ZEB2","ZFR","ZFYVE26","ZFYVE27","ZIC2","ZNF292","ZNF335","ZNF526","ZNF592","ZNF668","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ORTHOSTATIC_HYPOTENSION":{"collection":"C5:HPO","systematicName":"M35208","pmid":"","exactSource":"HP:0001278","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001278","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ORTHOSTATIC_HYPOTENSION","geneSymbols":["AAAS","ARSA","ATP7A","CAV1","CHCHD2","CHRNA3","COL1A1","COL5A1","COL5A2","COQ2","CYB561","CYP11B2","DBH","DNAJC13","EIF4G1","ELP1","GBA1","GBE1","GIGYF2","GMPPA","GSN","HEXB","IL12A","IL12RB1","IRF5","LEP","LEPR","LMNB1","LRRK2","MMEL1","NTRK1","POU2AF1","PSAP","SIM1","SNCA","SPG11","SPIB","TNFSF15","TNPO3","TTR","VPS35"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SYNCOPE":{"collection":"C5:HPO","systematicName":"M35209","pmid":"","exactSource":"HP:0001279","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001279","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SYNCOPE","geneSymbols":["ABCC8","ABCC9","ACTC1","AKAP9","AKT1","ALG10B","ANK2","ASXL1","ATP13A3","BAP1","BVES","CACNA1C","CACNA1D","CACNA2D1","CACNB2","CALM1","CALM2","CALM3","CASQ2","CAV3","CITED2","CLCNKB","COQ2","CTSH","DBH","DSC2","DSP","FLNC","GATA4","GATA5","GATA6","GJA5","GNB2","GPD1L","HCN4","HCRT","HLA-DQB1","HLA-DRB1","HNF1A","JAK2","JUP","KCNA5","KCND3","KCNE1","KCNE2","KCNE3","KCNE5","KCNH2","KCNJ11","KCNJ2","KCNJ3","KCNJ5","KCNJ8","KCNQ1","KIF20A","KIT","LAMP2","LMNA","MGAT2","MOG","MPL","MYBPC3","MYH6","MYL4","MYOZ2","MYPN","NF2","NKX2-5","NKX2-6","NOS1AP","NOTCH2NLC","NPPA","NTRK1","NUP155","P2RY11","PDGFB","PIK3CA","PITX2","PKP2","PRKAG2","PSEN1","PSEN2","RANGRF","RNF125","RYR2","SCN10A","SCN1B","SCN2B","SCN3B","SCN4B","SCN5A","SCNN1A","SEMA3A","SLC12A3","SLC4A3","SLC6A5","SLMAP","SMARCB1","SMARCE1","SMO","SNTA1","SRSF2","SUFU","TBX20","TBX5","TECRL","TERT","TET2","THPO","TLL1","TNFSF4","TNNC1","TNNI3","TNNT2","TRAF7","TRDN","TRPM4","TTN","UCP2","ZNF365"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_TETANY":{"collection":"C5:HPO","systematicName":"M35210","pmid":"","exactSource":"HP:0001281","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001281","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TETANY","geneSymbols":["ARVCF","CASR","CLDN16","COMT","CYP27B1","CYP2R1","GATA3","GP1BB","HIRA","JMJD1C","KCNJ1","PTH","RRAGD","RREB1","SEC24C","SLC12A1","SLC12A3","TBCE","TBX1","TCIRG1","TRPM6","UFD1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BULBAR_PALSY":{"collection":"C5:HPO","systematicName":"M35211","pmid":"","exactSource":"HP:0001283","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001283","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BULBAR_PALSY","geneSymbols":["ABCD1","ACTA1","AGRN","AR","ARSA","ATXN1","BICD2","CHAT","CHCHD10","CHRNA1","CHRNE","COL13A1","DES","DNAJB6","DOK7","FUS","GIPC1","GSN","HK1","LMOD3","MATR3","MTRFR","MYO9A","NEB","PET100","PLAA","SLC18A3","SLC25A1","SLC52A2","SLC52A3","SLC5A7","SNAP25","SQSTM1","SYT2","TARDBP","TBK1","TIA1","TK2","TPM3","TRPM7","VAMP1","VCP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_AREFLEXIA":{"collection":"C5:HPO","systematicName":"M35212","pmid":"","exactSource":"HP:0001284","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001284","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AREFLEXIA","geneSymbols":["AARS1","ABHD5","ACER3","ACO2","ACOX1","ACTA1","ADCY6","AGRN","AIFM1","ALDH18A1","ALDH4A1","ALG1","ALG14","ALG2","ALG6","AMPD1","ANXA11","APTX","ARL6IP1","ARSI","ASAH1","ASCC1","ATP11A","ATP1A1","ATP1A2","ATP1A3","ATP6AP2","ATXN1","ATXN3","B3GALNT2","B4GAT1","BICD2","BIN1","CACNA1A","CADM3","CARS2","CAV3","CCDC47","CD59","CDK5","CFL2","CHAT","CHCHD10","CLPB","CNTN1","CNTNAP1","CNTNAP2","COASY","COG7","COL12A1","COL13A1","COL25A1","COL4A1","COLQ","COX6A1","CRPPA","CRYAB","DAG1","DCAF8","DES","DHX16","DKK1","DNAJB2","DNAJC3","DNM1L","DNM2","DPAGT1","DPYD","DST","DYSF","EGR2","ENTPD1","ERBB3","ERCC6","ERCC8","ERGIC1","ERLIN1","FAM111B","FBLN5","FBXO28","FGD4","FHL1","FIG4","FKRP","FKTN","FLVCR1","FXN","FXR1","GAA","GAN","GARS1","GBE1","GBF1","GDAP1","GEMIN5","GFPT1","GIPC1","GJB1","GLE1","GMPPB","GNB4","GNE","GOSR2","HACD1","HADHA","HADHB","HARS1","HINT1","HK1","HNRNPK","HSD17B4","HSPB1","HSPB3","HSPB8","IBA57","IFRD1","IGHMBP2","IL6ST","INF2","INPP5K","ISCU","ITGA7","ITPR3","JAG1","JPH1","KARS1","KBTBD13","KCNJ18","KCNK9","KIF1A","KIF1B","KLC2","KLHL41","KLHL9","LAMA2","LAMB2","LARGE1","LGI4","LIFR","LMNA","LPIN1","LRP12","LRSAM1","MAG","MAP3K20","MARS1","MCM3AP","MED25","MEGF10","MFN2","MME","MORC2","MPV17","MPZ","MRE11","MT-TT","MTM1","MTMR14","MTRFR","MTTP","MYF6","MYH14","MYL1","MYL2","MYO1H","MYO9A","MYOT","MYPN","NARS2","NDRG1","NDUFAF2","NEB","NEFL","NOTCH2NLC","OCRL","OPA1","OPA3","ORAI1","PAX7","PDK3","PDSS1","PDXK","PEX1","PEX10","PEX11B","PEX12","PEX14","PEX2","PEX3","PEX5","PGM3","PIEZO2","PIGB","PIK3R5","PLA2G6","PLEC","PLEKHG4","PLEKHG5","PMM2","PMP2","PMP22","PNKP","PNPLA2","PNPLA6","PNPT1","POLG","POLG2","POMGNT1","POMGNT2","POMK","POMT1","POMT2","PPP1R21","PPP2R5D","PRNP","PRORP","PRPS1","PRX","PSMC1","PYROXD1","RAB7A","RAI1","REEP1","RETREG1","RFC1","RILPL1","RMND1","RNASEH1","RNF170","RRM2B","RXYLT1","RYR1","SACS","SAR1B","SBF1","SBF2","SCN9A","SCO2","SCYL2","SELENON","SETX","SH3TC2","SIGMAR1","SIL1","SLC12A6","SLC18A3","SLC1A3","SLC25A1","SLC25A21","SLC25A4","SLC25A46","SLC52A2","SLC5A6","SLC5A7","SLC9A1","SMN1","SMN2","SNAP25","SNAP29","SOX10","SPEG","SPG11","SPTBN4","SPTLC1","SQSTM1","STAC3","STIM1","SUCLG1","SURF1","SYNE1","SYT2","TBCD","TBCK","TCAP","TDP1","TECPR2","TFG","TIMM50","TNNT1","TOR1A","TPM2","TPM3","TRIM2","TRIM32","TRIP4","TRPV4","TTN","TTPA","TWNK","TYMP","UBA1","UGDH","VAMP1","VAPB","VCP","VPS13A","WARS1","WNK1","XK","XRCC1","YARS1","ZC4H2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SPASTIC_TETRAPARESIS":{"collection":"C5:HPO","systematicName":"M35213","pmid":"","exactSource":"HP:0001285","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001285","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPASTIC_TETRAPARESIS","geneSymbols":["AASS","ABCD1","ADAR","AFF3","ALG3","ALS2","APOE","ARX","ATP5F1A","ATP6V1A","AUH","COA8","DYM","EARS2","EIF2S3","ERLIN2","EXOSC8","FA2H","FAR1","FBLN1","GM2A","GSS","GUF1","HSD17B10","IFIH1","KCNJ6","KCNQ2","L2HGDH","LIPT1","LIPT2","LMNB1","LMX1B","LYRM7","MFSD2A","MOCS1","MRM2","MT-ATP6","NFU1","NUP54","NUP62","PAFAH1B1","PHACTR1","PLA2G6","PLP1","PRDM8","PRPS1","PRUNE1","PSAP","PSAT1","PSEN1","REEP1","RERE","RNU7-1","SDHA","SDHAF1","SDHB","SDHD","SLC18A2","SLC35A2","SMC1A","SOD1","SOX4","STAMBP","STXBP1","TACO1","TBCE","TMEM222","TNR","TRAPPC4","WDR62"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MENINGITIS":{"collection":"C5:HPO","systematicName":"M35214","pmid":"","exactSource":"HP:0001287","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001287","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MENINGITIS","geneSymbols":["ARPC1B","BCL2","BCL6","BLNK","BTK","C4A","C4B","C8A","C8B","CARD9","CCR1","CD19","CD40LG","CD79A","CD79B","CFB","CIITA","CR2","CTLA4","CXCR4","CYBA","CYBB","CYBC1","DNASE1L3","ERAP1","FAS","FCGR3B","FOXP3","HLA-B","HLA-DPA1","HLA-DPB1","HLA-DRB1","ICOS","IFNGR1","IGHM","IGLL1","IL10","IL12A","IL12A-AS1","IL23R","IL7","JAK3","KLRC4","LRRC8A","MEFV","MRTFA","NCF1","NCF2","NCF4","NDE1","NLRC4","NLRP3","P4HA2","PIK3R1","PRF1","PRTN3","PTPN22","RAG1","RAG2","RFX5","RFXANK","RFXAP","SH2D1A","SLC35C1","SLC39A7","SPI1","STAT4","TBK1","TCF3","TFRC","TLR3","TLR4","TNFRSF13B","TNFRSF13C","UBAC2","VANGL1","WAS","WIPF1","XIAP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_GAIT_DISTURBANCE":{"collection":"C5:HPO","systematicName":"M35215","pmid":"","exactSource":"HP:0001288","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001288","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GAIT_DISTURBANCE","geneSymbols":["AARS1","AASS","ABCA2","ABCD1","ABHD16A","ABHD5","ACAN","ACBD5","ACOX1","ACOX2","ACTA1","ACTB","ACTL6B","ACTN2","ADAM22","ADAR","ADAT3","ADCY5","ADGRG1","ADH1C","ADSL","ADSS1","AFG3L2","AGRN","AGTPBP1","AHI1","AIFM1","AIMP2","AKT1","ALAD","ALDH18A1","ALDH4A1","ALG14","ALG2","ALPL","ALS2","AMPD2","ANO10","ANO5","ANOS1","AOPEP","AP1S2","AP2M1","AP3B2","AP4B1","AP4E1","AP4M1","AP4S1","AP5Z1","APC","APOE","APP","APTX","AR","ARCN1","ARG1","ARID1B","ARL13B","ARL3","ARL6","ARL6IP1","ARMC9","ARSA","ARSI","ARV1","ARX","ASAH1","ASPA","ASXL1","ASXL3","ATAD1","ATAD3A","ATCAY","ATL1","ATL3","ATM","ATN1","ATP10A","ATP13A2","ATP1A1","ATP1A2","ATP1A3","ATP2B3","ATP5F1D","ATP5MC3","ATP6AP2","ATP6V1A","ATP7A","ATP7B","ATP8A2","ATXN1","ATXN10","ATXN2","ATXN3","ATXN8OS","B3GALNT2","B4GALNT1","B9D1","B9D2","BAG3","BAP1","BAZ1B","BBS1","BCAS3","BCL11A","BCL11B","BCL7B","BCORL1","BEAN1","BGN","BICD2","BIN1","BMPR1A","BRAT1","BSCL2","BUD23","BVES","C12orf4","C19orf12","C4A","CA8","CACNA1A","CACNA1B","CACNA1E","CACNA1G","CACNA1I","CACNA2D1","CACNA2D2","CAD","CAMK2A","CAMK2B","CAMTA1","CANT1","CAPN1","CAPN3","CARS1","CASK","CASZ1","CAV1","CBY1","CC2D2A","CCDC141","CCDC28B","CCDC88C","CCN6","CCR1","CCT5","CDK10","CDK19","CDK8","CDKL5","CDON","CELF2","CEP104","CEP120","CEP41","CERS1","CERT1","CFAP43","CFL2","CHAMP1","CHAT","CHCHD10","CHCHD2","CHD2","CHD3","CHD4","CHD7","CHKA","CHKB","CHMP1A","CHMP2B","CHRND","CHRNG","CHST3","CIITA","CIZ1","CLCN2","CLCN4","CLDN11","CLIC2","CLIP2","CLN3","CLN5","CLN8","CLTC","CNKSR2","CNPY3","COA7","COA8","COASY","COL10A1","COL12A1","COL13A1","COL2A1","COL6A1","COL6A2","COL6A3","COL9A1","COL9A2","COL9A3","COLQ","COMP","COPB1","COPB2","COQ2","COQ5","COX6A1","CP","CPLANE1","CPLX1","CPT1C","CRAT","CREBBP","CRPPA","CRYAB","CSF1R","CSPP1","CTBP1","CTNNA2","CTSF","CUL4B","CUX2","CWF19L1","CYFIP2","CYP27A1","CYP27B1","CYP2R1","CYP2U1","CYP7B1","DAB1","DAG1","DALRD3","DARS2","DCAF8","DCC","DCPS","DCTN1","DDHD1","DDHD2","DDX3X","DDX6","DEAF1","DES","DHDDS","DHH","DHPS","DHTKD1","DHX16","DHX30","DISP1","DKK1","DLAT","DLL1","DMD","DNA2","DNAJB2","DNAJB6","DNAJC12","DNAJC13","DNAJC3","DNAJC30","DNAJC6","DNM1","DNM1L","DNM2","DOCK3","DOCK7","DOHH","DOK7","DPAGT1","DPM3","DPYD","DSTYK","DUSP6","DYM","DYNC1H1","DYNC1I2","DYRK1A","DYSF","EBF3","EED","EEF1A2","EEF2","EGR2","EIF2AK2","EIF2AK3","EIF2B1","EIF2B2","EIF2B3","EIF2B4","EIF2B5","EIF2S3","EIF4G1","EIF4H","ELN","ELOVL4","ELOVL5","ELP1","EMC1","EMD","ENTPD1","EP300","EPCAM","EPM2A","EPRS1","ERAP1","ERBB3","ERBB4","ERCC1","ERCC2","ERCC3","ERCC4","ERCC6","ERCC8","ERLIN1","ERLIN2","ERMARD","EXOSC5","EXT2","EXTL3","FA2H","FAM149B1","FAN1","FAR1","FARS2","FAS","FAT2","FBN1","FBP2","FBXO28","FBXO38","FBXO7","FCSK","FDX2","FDXR","FEZF1","FGD4","FGF12","FGF13","FGF14","FGF17","FGF8","FGFR1","FHL1","FIG4","FKBP10","FKBP14","FKBP6","FKRP","FKTN","FLII","FLNA","FLNC","FLRT1","FLRT3","FLVCR1","FMR1","FN1","FNIP1","FOXH1","FOXRED1","FRRS1L","FTL","FUCA1","FUS","FXN","FZR1","GAA","GABBR2","GABRA1","GABRA2","GABRA5","GABRB2","GABRB3","GABRD","GABRG2","GALC","GALNS","GALT","GAN","GARS1","GAS1","GBA1","GBA2","GBE1","GBF1","GCH1","GDAP1","GDAP2","GEMIN4","GEMIN5","GFM2","GFPT1","GGPS1","GIGYF2","GIPC1","GJA1","GJB1","GJC2","GLB1","GLE1","GLI2","GLRA1","GLRB","GLRX5","GLUD2","GMPPB","GNAO1","GNB1","GNB2","GNB4","GNE","GNPTAB","GNS","GOSR2","GOT2","GPAA1","GPHN","GPT2","GRIA2","GRIA4","GRID2","GRIK2","GRIN1","GRIN2A","GRIN2D","GRM1","GRN","GSX2","GTF2E2","GTF2H5","GTF2I","GTF2IRD1","GTF2IRD2","GTPBP2","GYG1","H4C5","HACD1","HACE1","HADHA","HADHB","HARS1","HCN1","HERC1","HERC2","HESX1","HEXB","HINT1","HK1","HLA-B","HLA-DQB1","HNRNPA1","HNRNPA2B1","HNRNPH1","HNRNPH2","HNRNPK","HPCA","HPDL","HS6ST1","HSD17B10","HSD17B4","HSPB1","HSPB3","HSPD1","HSPG2","HTRA1","HTRA2","HTT","HYCC1","HYLS1","IBA57","IDH1","IFIH1","IFNGR1","IFRD1","IFT74","IGHMBP2","IKBKG","IL10","IL12A","IL12A-AS1","IL17RD","IL23R","IMPDH2","INF2","INPP5E","INPP5K","INTS1","INTS8","IQSEC1","IQSEC2","IRF2BPL","ISCU","ITPR1","ITPR3","JAG1","JAG2","JARID2","JPH3","KARS1","KAT6A","KATNIP","KBTBD13","KCNA1","KCNA2","KCNA4","KCNAB2","KCNB1","KCNC3","KCND3","KCNJ10","KCNN2","KCNQ2","KCNQ5","KCNT1","KDM5B","KDM5C","KIAA0586","KIAA0753","KIDINS220","KIF1A","KIF1B","KIF1C","KIF5A","KIF7","KLC2","KLHL41","KLHL9","KLRC4","KMT2A","KMT2B","KPNA3","KRAS","KY","L1CAM","LAMA2","LAMB2","LAMP2","LARGE1","LARS2","LCA5","LDB3","LETM1","LIMK1","LITAF","LMNA","LMNB1","LMNB2","LMOD3","LMX1B","LNPK","LONP1","LPIN1","LRAT","LRP12","LRP4","LRP5","LRPPRC","LRRK2","LRSAM1","LSM11","LTBP4","LUZP1","LYRM7","LYSET","LYST","MAB21L1","MAFB","MAG","MAGEL2","MAN1B1","MAN2B1","MAP1B","MAP3K20","MAPK10","MAPK8IP3","MAPT","MARCHF6","MARS1","MARS2","MAST1","MATN3","MATR3","MBOAT7","MBTPS1","MCM3AP","MCOLN1","MDH2","MECP2","MECR","MED12","MED25","MEF2C","MEFV","MEGF10","METTL27","MFF","MFN2","MFSD2A","MGAT2","MICOS13","MICU1","MIEF2","MKS1","MLH1","MLH3","MLXIPL","MMADHC","MME","MMP13","MMP2","MMP23B","MORC2","MPLKIP","MPV17","MPZ","MRE11","MRPS34","MSH2","MSH6","MSTO1","MT-ATP6","MT-CO1","MT-CO2","MT-CO3","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND5","MT-ND6","MT-TE","MT-TF","MT-TH","MT-TK","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TT","MT-TV","MT-TW","MTFMT","MTHFR","MTM1","MTMR14","MTOR","MTPAP","MTR","MTRFR","MTRR","MTTP","MYF6","MYH2","MYH3","MYH7","MYO1H","MYO9A","MYOT","MYPN","NAA10","NAA20","NACC1","NARS1","NAT8L","NAXD","NBEA","NCF1","NDNF","NDRG1","NDUFA1","NDUFA6","NDUFAF2","NDUFAF6","NDUFS8","NEB","NECAP1","NEFH","NEFL","NEU1","NEUROD2","NEXMIF","NF2","NGLY1","NHLRC1","NIPA1","NKX2-1","NKX3-2","NKX6-2","NODAL","NOG","NOP56","NOTCH2NLC","NOTCH3","NPC1","NPHP1","NPR3","NR4A2","NRXN1","NSUN2","NT5C2","NTNG1","NTNG2","NTRK1","NTRK2","NUBPL","NUDT2","NUP54","NUP62","NUS1","OBSCN","OCA2","OFD1","OGDH","OGDHL","OPA1","OPA3","OPHN1","OPTN","ORAI1","OTUD6B","P4HTM","PABPN1","PACS1","PACS2","PAK1","PANK2","PARK7","PARS2","PAX7","PCDH15","PCDH19","PCNA","PDE10A","PDE2A","PDE6D","PDE8B","PDGFB","PDGFRB","PDHA1","PDHX","PDK3","PDP1","PDPN","PDYN","PEX1","PEX10","PEX16","PEX2","PEX5","PEX6","PGAP1","PGAP2","PGAP3","PHIP","PI4KA","PIBF1","PIEZO2","PIGA","PIGG","PIGL","PIGO","PIGP","PIGS","PIGV","PIGW","PIGY","PIK3CA","PIK3R5","PINK1","PITRM1","PKP1","PLA2G6","PLCB1","PLCH1","PLD3","PLEC","PLEKHG4","PLEKHG5","PLOD1","PLP1","PMP2","PMP22","PMPCA","PMPCB","PMS1","PMS2","PNPLA2","PNPLA6","PNPLA8","PNPO","PNPT1","POC1A","PODXL","POGZ","POLG","POLG2","POLR3A","POLR3B","POMGNT1","POMT1","POMT2","POPDC3","POT1","POU3F4","POU4F1","PPM1D","PPP1R15B","PPP1R21","PPP2R1A","PPP2R2B","PPP2R5D","PPP3CA","PRDM13","PRDM16","PRDM5","PRDX3","PREPL","PRKAR1B","PRKCG","PRKCZ","PRKN","PRKRA","PRNP","PROK2","PROKR2","PRPS1","PRRT2","PRUNE1","PRX","PSAP","PSEN1","PSMB1","PSMC1","PTCH1","PTEN","PTH1R","PTS","PURA","PUS3","PYCR2","QRICH1","RAB11B","RAB18","RAB39B","RAB7A","RAI1","RANBP2","RAPSN","RARS1","RBM10","REEP1","REEP2","RELA","REPS1","RERE","RFC1","RFC2","RFX5","RFX7","RFXANK","RFXAP","RHOBTB2","RIC1","RILPL1","RLIM","RNASEH1","RNASEH2A","RNASEH2B","RNASEH2C","RNF113A","RNF125","RNF168","RNF170","RNU12","RNU7-1","RPE65","RPGRIP1L","RPL10","RPS20","RPS6KA3","RRM2B","RSPRY1","RTN2","RUBCN","RUSC2","RYR1","SACS","SAMD9L","SAMHD1","SATB1","SATB2","SBF1","SBF2","SCARB2","SCN1A","SCN1B","SCN2A","SCN3A","SCN4A","SCN8A","SCN9A","SCO2","SCYL1","SDHA","SDHAF1","SDHB","SDHD","SEC31A","SELENOI","SELENON","SEMA3A","SEMA4A","SERAC1","SET","SETX","SGCA","SGCB","SGCD","SGCG","SH3TC2","SHANK3","SHH","SHMT2","SHQ1","SIGMAR1","SIL1","SIM1","SIX3","SKI","SLC12A5","SLC12A6","SLC13A5","SLC16A2","SLC17A5","SLC18A2","SLC18A3","SLC19A3","SLC1A2","SLC1A4","SLC20A2","SLC25A1","SLC25A15","SLC25A19","SLC25A21","SLC25A22","SLC25A4","SLC25A46","SLC26A2","SLC2A1","SLC2A3","SLC30A10","SLC30A9","SLC33A1","SLC34A1","SLC34A3","SLC35A2","SLC35C1","SLC38A3","SLC39A13","SLC39A14","SLC39A8","SLC52A3","SLC5A7","SLC6A1","SLC6A17","SLC6A5","SLC6A8","SLC7A6OS","SLC9A1","SLC9A6","SLC9A7","SLITRK2","SMARCA2","SMARCAL1","SMARCB1","SMARCE1","SMC1A","SMG8","SMN1","SMN2","SMO","SMPD1","SMS","SNAP25","SNCA","SNCAIP","SNORD118","SNRPN","SNX14","SORD","SOX10","SPART","SPAST","SPATA5","SPATA7","SPEG","SPEN","SPG11","SPG21","SPG7","SPRY4","SPTBN1","SPTBN2","SPTLC1","SPTLC2","SQSTM1","SRCAP","ST3GAL3","STAC3","STAG2","STAT4","STIL","STRADA","STUB1","STX1A","STXBP1","SUCLA2","SUCLG1","SUFU","SURF1","SYNE1","SYNE2","SYNGAP1","SYNJ1","SYT1","SYT14","SYT2","SZT2","TACO1","TACR3","TAF1","TAFAZZIN","TANGO2","TARS1","TBC1D20","TBC1D23","TBC1D24","TBC1D2B","TBCD","TBCK","TBL2","TBP","TBR1","TCAP","TCEAL1","TCF4","TCTN1","TCTN2","TCTN3","TDGF1","TDP1","TECPR2","TELO2","TERT","TFG","TGFB1","TGFBR2","TGIF1","TGM6","TH","THG1L","THOC2","THRA","TIA1","TIMM8A","TK2","TKFC","TLK2","TLR4","TMCO1","TMEM106B","TMEM107","TMEM163","TMEM216","TMEM218","TMEM222","TMEM231","TMEM237","TMEM240","TMEM270","TMEM43","TMEM63C","TMEM67","TNNC2","TNNT1","TNPO2","TNR","TOGARAM1","TOP3A","TOPORS","TOR1A","TPI1","TPK1","TPM2","TPM3","TPP1","TPR","TRAF7","TRAK1","TRAPPC10","TRAPPC11","TRAPPC2L","TRAPPC6B","TREM2","TREX1","TRIM2","TRIM32","TRIO","TRIP4","TRMT10A","TRPC3","TRPM3","TRPV4","TSEN15","TSPOAP1","TTBK2","TTC19","TTN","TTPA","TUBB2B","TUBB3","TUBB4A","TWNK","TYROBP","UBA5","UBAC2","UBAP1","UBE3A","UBE4A","UBE4B","UBTF","UCHL1","UFSP2","UNC80","UQCRQ","UROC1","USP7","USP8","USP9X","VAC14","VAMP1","VAMP2","VAPB","VARS1","VCP","VDR","VLDLR","VPS13A","VPS13C","VPS13D","VPS16","VPS33A","VPS35","VPS37A","VPS37D","VPS41","VPS51","VWA3B","WARS1","WARS2","WASF1","WASHC5","WDR11","WDR26","WDR45B","WDR48","WDR81","WLS","WNT1","WNT3A","WWOX","XRCC1","XRCC4","XYLT2","YARS1","YME1L1","YWHAG","YY1","ZBTB20","ZC4H2","ZEB2","ZFR","ZFTA","ZFYVE26","ZFYVE27","ZIC2","ZMPSTE24","ZNF469","ZNF526","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CONFUSION":{"collection":"C5:HPO","systematicName":"M35216","pmid":"","exactSource":"HP:0001289","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001289","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONFUSION","geneSymbols":["ABCA7","ABCD1","ADAMTS13","ALAD","ALDH4A1","APP","ATP13A2","ATP1A2","C4A","CACNA1A","CCR1","CDKN1A","CDKN1B","CDKN2B","CDKN2C","CHRNA2","CPOX","CTSF","CUBN","DNMT1","EPM2A","ERAP1","ERCC2","ERCC3","ERCC4","ERCC5","FAS","FIG4","GNAS","HADH","HLA-B","HLA-DQB1","HMBS","IFNGR1","IL10","IL12A","IL12A-AS1","IL23R","KLRC4","MAN2B1","MEFV","MEN1","MMACHC","MT-TE","NAGS","NHLRC1","NOTCH3","POLR3A","PRDM8","PRDX1","PRNP","PRRT2","PSEN1","PSEN2","RYR1","SCN1A","SLC19A3","SLC22A5","SLC25A13","SLC25A15","SLC2A1","SORL1","STAT4","TBK1","TBP","TLR3","TLR4","TOMM40","TRANK1","TREM2","TTR","UBAC2","UQCRH"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_GENERALIZED_HYPOTONIA":{"collection":"C5:HPO","systematicName":"M35217","pmid":"","exactSource":"HP:0001290","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001290","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENERALIZED_HYPOTONIA","geneSymbols":["AARS1","ABCC8","ACACA","ACAD9","ACADM","ACAT2","ACTA1","ACTB","ACTL6B","ACTN2","ACY1","ADAM22","ADARB1","ADSL","AGA","AGK","AIFM1","ALDH5A1","ALG1","ALG12","ALG13","ALG14","ALG2","ALG9","AMER1","AMMECR1","AMT","ANK3","AP1S2","AP2M1","AP3B2","AP3D1","APC","ARFGEF2","ARHGAP31","ARID2","ARL13B","ARL3","ARSA","ARV1","ARX","ASCC1","ASXL3","ATCAY","ATP1A2","ATP1A3","ATP6V0A2","ATP6V1A","ATP6V1B2","ATP6V1E1","ATXN1","ATXN10","ATXN2","AUTS2","B3GALT6","B3GAT3","B4GALT7","BCKDHA","BCKDHB","BCL11B","BCOR","BCS1L","BIN1","BLTP1","BMP1","BMPER","BMPR1A","BOLA3","BPTF","BRAF","BSND","BUB1B","C12orf4","C2CD3","CACNA1A","CACNA1B","CACNA2D1","CACNA2D2","CAMK2G","CANT1","CARS1","CASR","CCDC115","CD59","CD96","CDC42","CDK10","CDK19","CDK8","CDKL5","CDON","CELF2","CEP104","CEP290","CEP41","CHAT","CHD1","CHD8","CHKB","CHMP1A","CHRNE","CHST14","CHST3","CLCN4","CLCN6","CLCN7","CLCNKA","CLCNKB","CLP1","CLTC","CNKSR2","CNOT1","CNOT2","CNTNAP1","CNTNAP2","COA8","COG1","COG6","COG7","COL12A1","COL13A1","COL1A1","COL1A2","COL2A1","COL6A1","COL6A2","COL6A3","COLQ","COQ7","COQ9","COX10","COX4I1","COX6A2","COX6B1","CPLANE1","CPLX1","CPT1A","CPT2","CRPPA","CSNK2B","CSPP1","CTBP1","CTU2","CUL4B","CYFIP2","CYP11B2","CYP27B1","CYP2R1","DAG1","DALRD3","DBT","DCHS1","DDOST","DDX11","DDX3X","DHCR7","DHDDS","DHFR","DHX16","DISP1","DLD","DLL1","DMPK","DNA2","DNAJC12","DNM1","DNM1L","DNM2","DPAGT1","DPM1","DPM2","DST","DYNC1I2","DYRK1A","EBF3","EBP","ECHS1","EDN1","EED","EEF1A2","EFNB1","EHMT1","EIF2B1","EIF2S3","ELN","ELP1","EMC1","EN1","EP300","ERCC2","ERCC3","ERF","ETHE1","EXOSC3","EXOSC5","EXOSC9","EXTL3","EZH2","FAM149B1","FARSA","FARSB","FASTKD2","FBXO11","FBXO28","FBXW11","FDX2","FGF12","FGF13","FGF8","FGFRL1","FH","FKRP","FKTN","FLAD1","FLCN","FLNA","FLVCR1","FMN2","FOXG1","FOXH1","FOXP1","FZR1","GABBR2","GABRA2","GABRA5","GABRB2","GABRB3","GABRG2","GALE","GALNT2","GAN","GARS1","GAS1","GBE1","GCDH","GCH1","GFAP","GFPT1","GLB1","GLDC","GLE1","GLI2","GLRX5","GLUL","GM2A","GMPPA","GMPPB","GNAI3","GNAO1","GNB1","GNB2","GNE","GNPAT","GNPTAB","GPAA1","GPHN","GPX4","GRID2","GRIK2","GRIN2B","GRIN2D","GTF2E2","GTF2H5","HACE1","HADH","HADHA","HCN1","HDAC8","HECW2","HERC2","HEXA","HLCS","HNRNPU","HSD17B10","HTRA2","HUWE1","IDH1","IFIH1","IFT81","INPP5E","INPPL1","IQSEC1","IQSEC2","ISCA2","ITCH","ITPR1","KANSL1","KAT6A","KAT6B","KATNIP","KBTBD13","KCNA2","KCNB1","KCNC3","KCNH1","KCNJ10","KCNK9","KCNMA1","KCNN3","KCNT1","KDM1A","KDM3B","KDM6A","KIAA0586","KIAA0753","KIF14","KIF1A","KIF22","KIF7","KLHL41","KMT2C","KMT2E","LAMA1","LARGE1","LARS1","LETM1","LIAS","LIFR","LMBRD1","LMOD3","LONP1","LRPPRC","LRRC32","LYRM7","MAG","MAGEL2","MAMLD1","MAN2B1","MANBA","MAPK1","MAPRE2","MARS2","MAST1","MBOAT7","MCCC1","MCCC2","MCOLN1","MED12","MED12L","MED13L","METTL5","MGAT2","MICOS13","MKRN3","MKS1","MLXIPL","MLYCD","MMAA","MMAB","MMACHC","MMADHC","MMUT","MN1","MOGS","MORC2","MPC1","MPI","MPLKIP","MRE11","MRPS14","MRPS22","MRPS28","MSL3","MSTO1","MT-TE","MT-TN","MT-TS1","MTM1","MTMR14","MTOR","MTR","MTX2","MVK","MYF6","MYH2","MYH7","MYL2","MYMK","MYO18B","MYO5A","MYOD1","MYPN","NAA10","NAA20","NAGA","NANS","NARS1","NARS2","NAT8L","NDUFA1","NDUFA11","NDUFA12","NDUFA6","NDUFAF4","NDUFAF5","NDUFB8","NDUFS1","NDUFS2","NDUFS3","NDUFS7","NDUFV2","NEB","NECAP1","NEMF","NEPRO","NEU1","NKX2-1","NKX6-2","NODAL","NONO","NOVA2","NPAP1","NPC1","NPHP1","NRAS","NRXN1","NSD2","NSDHL","NTRK2","NUP214","NUS1","ODC1","OFD1","OPHN1","OSTM1","OTUD6B","OTX2","P4HTM","PACS1","PACS2","PAK1","PARS2","PAX7","PBX1","PCBD1","PDE6D","PDHA1","PDHB","PDP1","PET100","PEX1","PEX12","PEX14","PEX16","PEX2","PEX3","PEX5","PEX6","PGM3","PHF21A","PHF6","PIEZO2","PIGB","PIGG","PIGH","PIGK","PIGN","PIGS","PIGT","PIGV","PIK3CA","PLA2G6","PLCB4","PLCH1","PLEKHG2","PLG","PMP22","PMPCA","PNP","PNPLA2","PNPT1","POC1A","POGZ","POLG","POLG2","POLR2A","POLR3A","POMGNT1","POMT1","POMT2","POU3F3","PPP1CB","PPP2R5D","PPP3CA","PPT1","PRDM13","PRDX1","PRF1","PRKCG","PRKD1","PRNP","PRODH","PSAP","PTCH1","PTCHD1","PTDSS1","PTEN","PUF60","PUM1","PUS1","PUS3","PUS7","PWAR1","PWRN1","RAI1","RARS2","RBM10","RERE","RET","RETREG1","RLIM","RMND1","RNASEH2C","RNF113A","RNF13","RNU4ATAC","ROBO3","RORA","RPGRIP1L","RPL10","RPS23","RRM2B","RSPRY1","RYR1","SC5D","SCN1B","SCN3A","SCN4A","SCN8A","SCN9A","SCO1","SDHA","SDHAF1","SDHB","SDHD","SELENON","SERAC1","SERPINH1","SETD1A","SETD2","SGPL1","SHANK3","SHH","SHOC2","SIX3","SIX6","SKI","SLC12A2","SLC13A3","SLC13A5","SLC17A5","SLC18A2","SLC1A2","SLC1A3","SLC22A5","SLC25A10","SLC25A15","SLC25A20","SLC25A24","SLC25A26","SLC25A4","SLC25A42","SLC25A46","SLC2A10","SLC35A1","SLC35A3","SLC35C1","SLC38A3","SLC45A1","SLC46A1","SLC52A2","SLC9A6","SLC9A7","SMC1A","SMN1","SMS","SNORD115-1","SNORD116-1","SNRPN","SOX2","SOX4","SOX5","SPART","SPEG","SPTAN1","SPTBN4","SSR4","STAG2","STAMBP","STIL","STRA6","STRADA","STT3A","STT3B","SUOX","SUPT16H","SURF1","SUZ12","SYNE1","SYNGAP1","SYNJ1","SZT2","TAF1","TANC2","TANGO2","TARS1","TASP1","TBC1D20","TBC1D23","TBC1D24","TBCE","TBR1","TCTN3","TDGF1","TDP2","TECPR2","TET3","TGFB1","TGIF1","TH","TIMM50","TK2","TLK2","TMEM199","TMEM216","TMEM237","TMEM63A","TMEM67","TMEM70","TMEM94","TNFRSF11A","TOGARAM1","TOPORS","TOR1A","TPI1","TPM2","TPM3","TRAK1","TRAPPC11","TRIP4","TRIT1","TRMU","TRNT1","TRPS1","TSFM","TSPOAP1","TTN","TUBA1A","TUBB2A","TWNK","TXN2","UBA1","UBA5","UBE3A","UBE3B","UBR1","UFM1","UGDH","UNC80","USP18","USP7","USP9X","VARS1","VDR","VIPAS39","VLDLR","VPS13B","VPS33B","VPS51","WAC","WASF1","WASHC5","WNK1","WWOX","YIF1B","YWHAG","ZBTB18","ZC4H2","ZEB2","ZIC2","ZNF462","ZNHIT3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CRANIAL_NERVE_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M35218","pmid":"","exactSource":"HP:0001291","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001291","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CRANIAL_NERVE_MORPHOLOGY","geneSymbols":["ABCA1","ACTA1","ADA2","ADCY6","ADGRG1","ADNP","AGRN","AK9","AKT1","ALG14","ALG2","AMER1","ANKH","ANO5","ANTXR1","ASAH1","ATP1A2","ATRX","BAG3","BAP1","BICRA","BIN1","BMS1","BRAF","BTNL2","CA2","CACNA1A","CAPN3","CDH23","CDKN1A","CDKN1B","CDKN2B","CDKN2C","CFL2","CHAT","CHCHD10","CHD7","CHKB","CHRNA1","CHRNB1","CHRND","CHRNE","CLCN7","CNTNAP1","COCH","COL12A1","COL13A1","COL25A1","COL4A1","COL6A1","COL6A2","COL6A3","COLQ","COQ6","CRLF1","CRPPA","CRYAB","DES","DKK1","DLL4","DLST","DMPK","DNAJB6","DNM2","DNMT3A","DOK7","DPAGT1","EGR2","EPAS1","EYA1","FGF3","FH","FKRP","FKTN","FRG1","GAN","GDF3","GDF6","GFPT1","GJA1","GJC2","GLE1","GMPPB","GNAQ","GNE","GSN","HK1","HLA-DRB1","HNRNPA1","HNRNPA2B1","HOXB1","HRAS","ITGB4","KARS1","KBTBD13","KIF1B","KLHL40","KLHL41","KMT2D","KY","LAMA2","LAMB2","LARGE1","LMOD3","LRP12","LRP4","LRP5","LZTR1","MAX","MDH2","MEGF10","MEN1","MEOX1","MGME1","MPZ","MTM1","MTMR14","MTMR2","MTRFR","MUSK","MYH7","MYL2","MYMK","MYMX","MYO9A","MYPN","NEB","NEFL","NF1","NF2","NFU1","NOD2","NR3C1","OSTM1","OTX2","PABPN1","PDGFB","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PI4KA","PIK3CA","PLEC","PLEKHM1","PLXND1","POLG","POLG2","POMT1","POMT2","PRNP","PRRT2","PRRX1","PTDSS1","PTRH2","PUF60","RAPSN","RET","REV3L","RRM2B","RYR1","SALL4","SCN1A","SCN4A","SCO2","SDHA","SDHAF2","SDHB","SDHC","SDHD","SELENON","SEMA3E","SGCD","SH3TC2","SHMT2","SIX1","SIX5","SLC12A6","SLC18A3","SLC19A3","SLC25A1","SLC25A11","SLC25A4","SLC29A3","SLC39A14","SLC52A2","SLC52A3","SLC5A7","SMARCB1","SMARCE1","SMCHD1","SMO","SNAP25","SNX10","SOST","SPEG","SPRED1","SPTBN4","SQSTM1","SRPX2","STAG2","SUCLA2","SUFU","SUPT16H","SYNE1","SYT2","TCIRG1","TERT","TFAP2A","TFG","TGFB1","TK2","TMEM127","TMEM53","TNFRSF11A","TNFSF11","TOR1A","TP53","TPM2","TPM3","TRAF7","TRIM32","TRPV4","TTN","TUBB3","TUBB6","TWNK","UBA1","UBA2","UBE2T","USP48","USP8","VAMP1","VCP","VHL","XRCC2","YME1L1","ZC4H2","ZFHX4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CRANIAL_NERVE_COMPRESSION":{"collection":"C5:HPO","systematicName":"M35219","pmid":"","exactSource":"HP:0001293","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001293","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CRANIAL_NERVE_COMPRESSION","geneSymbols":["ATP1A2","ATRX","BRAF","CA2","CACNA1A","CDH23","CDKN1A","CDKN1B","CDKN2B","CDKN2C","CLCN7","COL4A1","DKK1","DLST","DNMT3A","EPAS1","FH","HNRNPA1","HNRNPA2B1","KIF1B","LRP4","MAX","MDH2","MEN1","MTRFR","NF1","NFU1","NR3C1","PLEKHM1","PRRT2","RET","SCN1A","SDHA","SDHAF2","SDHB","SDHC","SDHD","SH3TC2","SLC25A11","SNX10","TCIRG1","TGFB1","TMEM127","TMEM53","TNFRSF11A","TNFSF11","TP53","USP48","USP8","VCP","VHL"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_STROKE":{"collection":"C5:HPO","systematicName":"M35220","pmid":"","exactSource":"HP:0001297","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001297","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_STROKE","geneSymbols":["ABCC6","ACAD9","ACTA2","ACTB","ACTC1","ACTG1","ACVRL1","ADA2","ADAMTS13","AGXT","ALOX5AP","AMACR","ANGPTL6","APP","ASS1","ATRX","B3GALT6","BAZ1B","BCL7B","BRAF","BRCC3","BUD23","CALR","CBS","CCM2","CCND1","CDH23","CHMP2B","CITED2","CLIP2","COL3A1","COL4A1","COLGALT1","CPS1","CST3","DNAJC30","DPAGT1","DPM3","DYRK1B","EIF4H","ELN","ENG","ENPP1","ERCC6","ERCC8","F2","F5","FBN1","FHOD3","FKBP6","FLNA","FLNC","FOXE3","GATA4","GATA6","GDF2","GLA","GNAQ","GNB2","GRN","GTF2I","GTF2IRD1","GTF2IRD2","GUCY1A1","GYS1","HBB","HEY2","HSD11B2","HTRA1","JAG1","JAK2","KIF20A","KRAS","LIG3","LIMK1","LMNA","LOX","LRPPRC","MAPT","MAT2A","MECP2","METTL27","MFAP5","MLXIPL","MMACHC","MMUT","MPL","MT-CO1","MT-CO2","MT-CO3","MT-CYB","MT-ND1","MT-ND4","MT-ND5","MT-ND6","MT-TC","MT-TF","MT-TH","MT-TK","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TV","MT-TW","MTHFR","MYBPC3","MYD88","MYH11","MYH6","MYLK","MYPN","NAGA","NAGS","NCF1","NDUFA8","NF1","NKX2-5","NOS3","NOTCH3","NPPA","NR3C1","OTC","PCNT","PDE11A","PIGA","PIK3C2A","PLIN1","PMM2","PNP","PRKAR1A","PRKCH","PRKG1","PRNP","PSEN1","RFC2","RFT1","RNF213","SCN5A","SH2B3","SLC19A2","SLC2A10","SMAD2","SMAD3","SMAD4","SMARCAL1","SNAP29","SNORD118","SON","STIM1","STX1A","TANGO2","TBL2","TBX20","TET2","TGFB2","TGFB3","TGFBR1","TGFBR2","TGFBR3","THPO","THSD1","THSD4","TLL1","TMEM106B","TMEM270","TNNI3","TNNT2","TNXB","TP53","TPP2","TREM2","TREX1","TRPV6","TTR","USP48","USP8","VCP","VHL","VPS37D","WFS1","XYLT1","XYLT2","ZAP70","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ENCEPHALOPATHY":{"collection":"C5:HPO","systematicName":"M35221","pmid":"","exactSource":"HP:0001298","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001298","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ENCEPHALOPATHY","geneSymbols":["AARS1","ACAD9","ACADS","ACOX1","ACSF3","ACTL6B","ACY1","ADAM22","AFF3","ALDH4A1","ALG9","ALMS1","AMACR","AMT","AP2M1","AP3B2","ARHGEF9","ARV1","ARX","ASNS","ATAD1","ATAD3A","ATG7","ATP1A2","ATP1A3","ATP5F1A","ATP5F1D","ATP5F1E","ATP5MK","ATP6V1A","ATPAF1","ATPAF2","BCS1L","BOLA3","BSCL2","CA5A","CACNA1A","CACNA1B","CACNA1E","CACNA2D1","CACNA2D2","CAD","CARS2","CCDC88A","CDK19","CDKL5","CELF2","CHD2","CHKA","CLCN4","CLCNKB","CLP1","CLPB","CLTC","CNKSR2","CNPY3","COG8","COQ2","COQ4","COQ5","COQ9","COX15","COX16","CPLX1","CPT1A","CPT2","CRLS1","CUX2","CYC1","CYFIP2","D2HGDH","DALRD3","DCX","DENND5A","DGUOK","DHDDS","DLD","DNM1","DNM1L","DOCK7","DPAGT1","DPM1","DPM2","EEF1A2","EIF2AK3","ETHE1","FADD","FBLN1","FBXL4","FBXO28","FCSK","FGF12","FGF13","FOCAD","FOXRED1","FRRS1L","FZR1","GABBR2","GABRA1","GABRA2","GABRA5","GABRB1","GABRB2","GABRB3","GABRG2","GALC","GALT","GBA1","GCDH","GLDC","GLS","GLUL","GLYCTK","GNAO1","GPR35","GPT2","GRIK2","GRIN1","GRIN2A","GRIN2B","GRIN2D","GUF1","HADH","HCN1","HECW2","HIBCH","HMGCL","HNRNPR","HNRNPU","HSD17B10","HTRA1","IBA57","ITPA","KCNA2","KCNB1","KCNC2","KCNQ2","KCNQ5","KCNT1","KCNT2","KMT2E","KYNU","LIAS","LIPT2","LRPPRC","LYRM7","MAPK10","MAST3","MDH1","MDH2","MECP2","MEF2C","MMACHC","MPC1","MST1","MT-ATP6","MT-ATP8","MT-CO1","MT-CO2","MT-CO3","MT-CYB","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND5","MT-ND6","MT-TC","MT-TF","MT-TH","MT-TK","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TV","MT-TW","MTHFR","MYRF","NADK2","NAGS","NAPB","NAXD","NAXE","NBAS","NDUFA1","NDUFA11","NDUFA2","NDUFA6","NDUFAF1","NDUFAF2","NDUFAF3","NDUFAF4","NDUFAF5","NDUFAF8","NDUFB10","NDUFB11","NDUFB3","NDUFB9","NDUFS1","NDUFS2","NDUFS3","NDUFS4","NDUFS6","NDUFS7","NDUFS8","NDUFV1","NDUFV2","NECAP1","NEUROD2","NEXMIF","NOTCH3","NRXN1","NSF","NTRK2","NUBPL","NUS1","PACS2","PAFAH1B1","PARS2","PCCA","PCCB","PCK1","PHACTR1","PIGA","PIGP","PLCB1","PMPCB","PNPO","PNPT1","POLG","PPP3CA","PRNP","PSAP","PTPN23","RANBP2","RINT1","RNASEH2B","RNASEH2C","RNF13","ROGDI","RYR1","SCN1A","SCN1B","SCN2A","SCN3A","SCN8A","SEMA4D","SERAC1","SERPINI1","SH2D1A","SIK1","SLC12A3","SLC13A5","SLC19A3","SLC1A2","SLC22A5","SLC25A1","SLC25A12","SLC25A13","SLC25A15","SLC25A20","SLC25A22","SLC2A1","SLC35A1","SLC35A2","SLC38A3","SLC52A3","SLC6A1","SLC6A9","SMARCAL1","SMC5","SPTAN1","SQOR","ST3GAL3","STAG1","STAT2","STXBP1","SUCLA2","SUCLG1","SYNGAP1","SYNJ1","SZT2","TBC1D24","TBCD","TBCE","TBCK","TCF4","TGFB1","TH","TIMM50","TIMMDC1","TK2","TMEM126B","TMEM70","TPK1","TRAF3","TRAK1","TRAPPC12","TREX1","TRIT1","TSEN54","TSFM","TSPOAP1","TUFM","TULP3","TWNK","UBA5","UGDH","UGT1A1","UNC80","WDR45","WWOX","XIAP","YWHAG","ZNF668","ZNFX1","ZNHIT3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PARKINSONISM":{"collection":"C5:HPO","systematicName":"M35222","pmid":"","exactSource":"HP:0001300","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001300","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PARKINSONISM","geneSymbols":["ABCA7","ADH1C","AFG3L2","ALS2","AOPEP","AP5Z1","APOE","APP","ATN1","ATP13A2","ATP1A3","ATP6AP2","ATP7B","ATXN2","ATXN3","ATXN8OS","C19orf12","C9orf72","CAT","CHCHD10","CHCHD2","CHMP2B","CLN3","COASY","COQ2","CP","CSF1R","CYP27A1","DCTN1","DNAJC12","DNAJC13","DNAJC5","DNAJC6","EIF2AK2","EIF4G1","FBXO7","FMR1","FTL","FUS","GABRA1","GABRG2","GBA1","GCH1","GIGYF2","GLUD2","GRN","HTRA2","IMPDH2","JAM2","JPH3","KCNN2","KIF5A","LRRK2","LYST","MAPT","MECP2","MPO","MT-TT","MYORG","NOS3","NOTCH3","NR4A2","PANK2","PARK7","PCBD1","PCDH19","PDE10A","PDGFB","PDGFRB","PINK1","PLA2G6","PLAU","POLG","PPP2R2B","PRKAR1B","PRKN","PRKRA","PRNP","PSAP","PSEN1","PSEN2","PTS","RAB39B","SCN1A","SCN1B","SCN2A","SCN9A","SIGMAR1","SLC18A2","SLC20A2","SLC30A10","SLC39A14","SLC6A3","SNCA","SNCAIP","SNCB","SORL1","SPG11","SPTLC1","SQSTM1","STUB1","SYNJ1","TAF1","TARDBP","TBK1","TBP","TH","TK2","TMEM106B","TMEM240","TNR","TOMM40","TREM2","TRPM7","TSPOAP1","TWNK","UBTF","UCHL1","UQCRC1","VCP","VPS13A","VPS13C","VPS35","WARS2","WDR45","XPR1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_TORSION_DYSTONIA":{"collection":"C5:HPO","systematicName":"M35223","pmid":"","exactSource":"HP:0001304","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001304","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TORSION_DYSTONIA","geneSymbols":["ADAR","HPCA","PRRT2","SLC2A1","TAF1","THAP1","TOR1A","TUBB4A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_TONGUE_FASCICULATIONS":{"collection":"C5:HPO","systematicName":"M35224","pmid":"","exactSource":"HP:0001308","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001308","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TONGUE_FASCICULATIONS","geneSymbols":["ADPRS","AGTPBP1","AIFM1","ASAH1","ATP11A","ATP1A2","CACNA1A","CHCHD10","EGR2","EXOSC3","EXOSC8","EXOSC9","FXR1","KCNK9","LGI3","MEGF10","MPZ","NDUFS4","NOP56","OPTN","PMP22","PRRT2","PRUNE1","PRX","RMND1","SCN1A","SH3TC2","SLC25A21","SLC25A46","SLC52A2","SLC52A3","SMN1","SMN2","SPTLC1","SYT2","TBCD","TOE1","TSPYL1","UBA1","VCP","VRK1","VWA1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DYSMETRIA":{"collection":"C5:HPO","systematicName":"M35225","pmid":"","exactSource":"HP:0001310","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001310","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DYSMETRIA","geneSymbols":["AASS","ABCB7","ABCD1","ABHD12","ACBD5","ACOX2","ADGRG1","ADPRS","AFG3L2","ANO10","AP5Z1","ATG5","ATN1","ATP1A2","ATP1A3","ATP6AP2","ATXN1","ATXN10","ATXN2","ATXN7","B4GALNT1","BAZ1B","BCL7B","BRAT1","BUD23","CACNA1A","CACNA1G","CACNA2D2","CAMTA1","CAPN1","CAV1","CCDC88C","CHP1","CLIP2","CLN5","COA7","COQ5","CRAT","CTDP1","CWF19L1","CYP7B1","DAB1","DEGS1","DNAJC30","EBF3","EIF4H","ELN","ELOVL1","ERMARD","EXOSC5","FA2H","FKBP6","FMR1","FXN","GBA2","GFAP","GJB1","GJC2","GPAA1","GRID2","GRM1","GTF2I","GTF2IRD1","GTF2IRD2","GTPBP2","HIBCH","HTRA1","IFRD1","IRF2BPL","ITPR1","KCNC3","KIF1A","KIF1C","LAGE3","LIG3","LIMK1","LMNB1","LNPK","LRPPRC","MAG","MARS2","METTL27","MLXIPL","MRE11","MSTO1","MTTP","MYORG","NCF1","NDUFAF2","NEU1","NF1","NFASC","NGLY1","NOP56","OGDH","OPA1","PDGFB","PDGFRB","PDYN","PEX16","PEX2","PI4KA","PIK3R5","PITRM1","PLA2G6","PLD3","PLP1","PMM2","PMPCA","PMPCB","PNPLA8","POLG","POLR3A","POLR3B","POU4F1","PPP2R2B","PRDM13","PRICKLE1","PRKCG","PRNP","PTRH2","PUM1","RARS1","REPS1","RFC1","RFC2","RNASEH1","RRM2B","RUSC2","SACS","SAMD9L","SCN8A","SFXN4","SHMT2","SLC13A3","SLC20A2","SLC25A15","SLC25A46","SLC5A6","SLC7A6OS","SLC9A1","SMC5","SPART","SPG7","SPTBN2","SQSTM1","SRPX2","STUB1","STX1A","SYNE1","TBL2","TBP","TCTN2","TECPR2","TGM6","TIMMDC1","TMEM106B","TMEM270","TMEM63A","TOP3A","TPP1","TTC19","TTPA","TWNK","UCHL1","UROC1","VLDLR","VPS37D","VWA3B","WARS2","WASHC5","WDR81","XRCC1","XRCC4","YME1L1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_NERVOUS_SYSTEM_ELECTROPHYSIOLOGY":{"collection":"C5:HPO","systematicName":"M35226","pmid":"","exactSource":"HP:0001311","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001311","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_NERVOUS_SYSTEM_ELECTROPHYSIOLOGY","geneSymbols":["AARS1","AARS2","AASS","ABAT","ABCA5","ABCC8","ABCD1","ABHD12","ACOX1","ACTL6B","ADARB1","ADGRG1","ADGRV1","ADK","ADRA2B","AFG3L2","AGRN","AHDC1","AHSG","AIFM1","AIMP1","AIMP2","AKT3","ALDH4A1","ALDH5A1","ALDH7A1","ALG1","ALG11","ALG13","ALG14","ALG2","ALG3","ALS2","AMT","ANKRD11","ANKRD17","ANTXR1","AP1S2","AP2M1","AP3B2","AP3D1","APC2","APOL2","APOL4","ARFGEF1","ARFGEF2","ARG1","ARHGAP31","ARHGEF10","ARHGEF2","ARHGEF9","ARSA","ARV1","ARX","ASL","ASNS","ASPA","ATAD1","ATL1","ATL3","ATN1","ATP10A","ATP11A","ATP1A2","ATP1A3","ATP6V0A1","ATP6V1A","ATP6V1B2","ATP7A","ATP7B","ATXN1","ATXN10","B3GALNT2","BCS1L","BRAF","BRAT1","BSCL2","C1QBP","CABP4","CACNA1A","CACNA1B","CACNA1E","CACNA1G","CACNA1H","CACNA1S","CACNA2D1","CACNB4","CADM3","CAMK2A","CAMSAP1","CARS2","CASK","CASZ1","CCDC47","CCDC88A","CCT5","CDK19","CDK5","CDKL5","CELF2","CEP126","CEP85L","CERS1","CHAT","CHCHD10","CHD2","CHI3L1","CHMP2B","CHRNA2","CHRNA4","CHRNB2","CILK1","CLCN2","CLCN4","CLCN6","CLN5","CLN6","CLN8","CLTC","CLTCL1","CLTRN","CNKSR2","CNPY3","CNTN2","CNTNAP1","CNTNAP2","COL13A1","COMT","COX16","COX4I1","CPA6","CPLANE1","CPLX1","CPT1C","CREBBP","CRH","CRPPA","CSTB","CTBP1","CTDP1","CTNNA2","CTNND2","CUL3","CUL4B","CUX2","CYFIP2","CYP27A1","D2HGDH","DAG1","DALRD3","DAOA","DCAF8","DCX","DDB2","DEAF1","DEGS1","DENND5A","DEPDC5","DHDDS","DHH","DHPS","DHX16","DIAPH3","DLL4","DMXL2","DNAJB6","DNAJC3","DNM1","DNM2","DOCK6","DOCK7","DOLK","DPAGT1","DPM1","DPM2","DPYD","DRD3","EBP","EDNRB","EEF1A2","EFHC1","EGR2","EIF2S3","EMC1","EMILIN1","EOGT","EP300","EPG5","EPM2A","ERCC1","ERCC2","ERCC3","ERCC4","ERCC5","ERCC6","ERCC8","ERMARD","EXOC8","FARS2","FBLN5","FBN1","FBXO28","FBXO38","FDXR","FGD4","FGF12","FGF13","FGFRL1","FIG4","FKRP","FKTN","FLCN","FLII","FLNC","FLVCR1","FOXG1","FOXP1","FRRS1L","FXN","FZR1","GABBR2","GABRA1","GABRA2","GABRA3","GABRA5","GABRB1","GABRB2","GABRB3","GABRD","GABRG2","GAD1","GALC","GARS1","GDAP1","GFM2","GJB1","GJC2","GLS","GLUD1","GLYCTK","GMPPB","GNAO1","GNB1","GNB2","GNB5","GOLGA2","GON7","GOSR2","GPAA1","GRIA1","GRIA3","GRIA4","GRIN1","GRIN2A","GRIN2B","GRIN2D","GRM7","GRN","GUF1","HCFC1","HCN1","HECW2","HIBCH","HIC1","HID1","HIKESHI","HK1","HMGCL","HNRNPU","HPDL","HRAS","HSD17B4","HSPB1","HSPB8","HSPG2","HTR2A","HYCC1","IARS2","IDUA","IER3IP1","IGHMBP2","IQSEC2","IREB2","ITGB6","ITPR3","JPH1","JRK","KANSL1","KARS1","KCNA1","KCNA2","KCNAB2","KCNB1","KCNC1","KCNC2","KCNH1","KCNJ11","KCNJ18","KCNMA1","KCNQ2","KCNQ3","KCNT1","KCNT2","KCTD7","KDM6A","KIF1A","KIF1B","KMT2D","KPNA3","KPTN","KRAS","LAGE3","LAMA2","LAMC3","LARGE1","LARS2","LETM1","LGI1","LIG3","LIPT2","LITAF","LMNA","LMNB1","LONP1","LRPPRC","LRSAM1","LSS","LTBP3","LUZP1","LYST","MADD","MAF","MAP1B","MAP2K1","MAP2K2","MAPK10","MAPT","MARCHF6","MATR3","MCOLN1","MDH1","MECP2","MED13L","MED17","MED25","MEGF10","MFF","MFN2","MFSD8","MGAT2","MMP23B","MOGS","MORC2","MPDU1","MPV17","MPZ","MT-CO1","MT-CO2","MT-CO3","MT-ND1","MT-ND4","MT-ND5","MT-ND6","MT-TF","MT-TH","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TW","MTHFR","MTHFS","MTMR2","MTOR","MTRFR","MYD88","MYH14","MYH3","MYO9A","NACC1","NALCN","NARS2","NAXD","NBEA","NDP","NDRG1","NDUFA9","NDUFAF8","NECAP1","NECTIN1","NEDD4L","NEFL","NEU1","NEUROD2","NEXMIF","NF1","NFASC","NGLY1","NHLRC1","NLGN3","NLGN4X","NLRP3","NMNAT1","NOTCH1","NOTCH2NLC","NPRL2","NPRL3","NRAS","NSD2","NSF","NSRP1","NTNG1","NTNG2","NTRK1","NTRK2","NUP107","NUP133","NUP188","NUS1","OCA2","OCRL","OGDHL","OPA1","OSGEP","OTOF","P4HTM","PACS2","PAFAH1B1","PARS2","PCDH12","PCDH19","PCK1","PDE2A","PDHA1","PDK3","PDPN","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PGAP2","PGAP3","PHACTR1","PHF6","PHGDH","PI4KA","PIDD1","PIGA","PIGG","PIGL","PIGO","PIGP","PIGQ","PIGS","PIGT","PIGV","PIGW","PIGY","PIK3CA","PLA2G6","PLAA","PLCB1","PLCH1","PLEKHG5","PLP1","PLPBP","PMP2","PMP22","PNKP","PNPO","PNPT1","POGZ","POLG","POMGNT1","POMT1","POMT2","PPFIBP1","PPP3CA","PPT1","PRDM16","PRDX3","PRICKLE1","PRKAG2","PRKCZ","PRNP","PRODH","PRPS1","PRRT2","PRUNE1","PRX","PSAP","PSAT1","PSEN1","PTPN23","PTRH2","PTS","PURA","RAB7A","RAI1","RBPJ","REEP1","RELN","RERE","RETREG1","RFC1","RIPOR2","RMRP","RNF13","ROGDI","RPL10","RRM2B","RTN2","RTN4R","RTTN","RUSC2","SACS","SAMD12","SAMD9L","SATB1","SBF1","SBF2","SCARB2","SCN1A","SCN1B","SCN2A","SCN3A","SCN8A","SCN9A","SCP2","SEMA6B","SETBP1","SETD1B","SETX","SH3TC2","SHQ1","SIGMAR1","SIK1","SKI","SLC12A5","SLC12A6","SLC13A5","SLC18A3","SLC1A2","SLC1A3","SLC1A4","SLC25A1","SLC25A10","SLC25A15","SLC25A22","SLC25A46","SLC2A1","SLC32A1","SLC33A1","SLC35A2","SLC38A3","SLC39A8","SLC44A1","SLC5A7","SLC6A1","SLC6A19","SLC9A6","SMC1A","SMS","SNAP25","SNAP29","SNIP1","SNRPN","SORD","SOX10","SPATA5","SPEN","SPG21","SPTAN1","SPTBN1","SPTBN4","SPTLC1","SPTLC2","SQSTM1","SRPX2","ST3GAL3","ST3GAL5","STARD7","STRADA","STUB1","STX1B","STXBP1","SUCLA2","SUMF1","SUOX","SYN2","SYNGAP1","SYNJ1","SYT1","SYT2","SZT2","TBC1D20","TBC1D24","TBC1D2B","TBCK","TBK1","TBL1XR1","TDP1","TET3","TFE3","TFG","TGFB1","TICAM1","TIMM50","TIMM8A","TLR3","TMEM106B","TP53RK","TPI1","TPP1","TPRKB","TRAF3","TRAK1","TRAPPC11","TRAPPC12","TREM2","TRIM2","TRIM8","TRIT1","TRPM3","TRPV4","TTPA","TUBB2A","TUBGCP2","TYMP","TYROBP","UBA1","UBA5","UBAP1","UBE3A","UBE4B","UBTF","UFC1","UGDH","UNC80","UNC93B1","UPB1","UQCRC1","VAMP1","VAMP2","VARS1","VARS2","VCP","VPS13A","WASHC5","WDR4","WDR45","WDR62","WDR73","WNK1","WWOX","XPA","XPC","YARS1","YEATS2","YME1L1","YRDC","YWHAE","YWHAG","ZEB2","ZNF148","ZNF526","ZNHIT3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_GIANT_SOMATOSENSORY_EVOKED_POTENTIALS":{"collection":"C5:HPO","systematicName":"M35227","pmid":"","exactSource":"HP:0001312","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001312","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GIANT_SOMATOSENSORY_EVOKED_POTENTIALS","geneSymbols":["EPM2A","MARCHF6","NHLRC1","SAMD12","SEMA6B","STARD7"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_REDUCED_TENDON_REFLEXES":{"collection":"C5:HPO","systematicName":"M35228","pmid":"","exactSource":"HP:0001315","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001315","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_TENDON_REFLEXES","geneSymbols":["AARS1","AARS2","ABCA1","ABHD12","ABHD5","ACADM","ACAT1","ACD","ACER3","ACO2","ACOX1","ACTA1","ACTL6B","ADCY6","ADSS1","AGRN","AGTPBP1","AIFM1","AK9","ALDH18A1","ALDH4A1","ALDH5A1","ALG1","ALG14","ALG2","ALG6","AMPD1","AMT","ANXA11","AP3B2","APOB","APTX","AR","ARHGEF2","ARL6IP1","ARSA","ARSI","ARV1","ASAH1","ASCC1","ATL3","ATM","ATN1","ATP11A","ATP1A1","ATP1A2","ATP1A3","ATP6AP2","ATP6V1A","ATP6V1B2","ATP7A","ATP9A","ATXN1","ATXN10","ATXN2","ATXN3","B3GALNT2","B4GALNT1","B4GAT1","BAG3","BEAN1","BICD2","BIN1","BSND","C19orf12","CACNA1A","CACNA1B","CACNA1S","CACNA2D1","CADM3","CARS1","CARS2","CAV3","CCDC47","CD59","CDK19","CDK5","CELF2","CFL2","CHAT","CHCHD10","CHRNA1","CHRNB1","CHRND","CHRNE","CLCNKA","CLCNKB","CLPB","CLTC","CNBP","CNKSR2","CNTN1","CNTNAP1","CNTNAP2","COA7","COASY","COG7","COL12A1","COL13A1","COL25A1","COL4A1","COLQ","COX6A1","COX8A","CPT1A","CRPPA","CRYAB","CYFIP2","DAG1","DALRD3","DARS2","DBH","DCAF8","DDB2","DEAF1","DES","DGUOK","DHDDS","DHH","DHTKD1","DHX16","DHX30","DKC1","DKK1","DMD","DNAJB2","DNAJC3","DNAJC6","DNASE1L3","DNM1","DNM1L","DNM2","DNMT1","DOCK3","DOK7","DPAGT1","DPM3","DPYD","DST","DUOX2","DUOXA2","DYNC1H1","DYSF","EEF1A2","EGR2","ELOVL4","ELP1","EMC1","EMD","ENTPD1","ERBB3","ERCC1","ERCC2","ERCC3","ERCC4","ERCC5","ERCC6","ERCC8","ERGIC1","ERLIN1","EXOSC1","EXOSC3","EXOSC8","EXOSC9","EXTL3","FAM111B","FASTKD2","FBLN5","FBN1","FBXO28","FBXO38","FDX2","FGD4","FGF12","FGF13","FHL1","FIG4","FKBP10","FKRP","FKTN","FLI1","FLII","FLNC","FLRT1","FLVCR1","FMR1","FUS","FUZ","FXN","FXR1","FZR1","GAA","GABBR2","GABRA2","GABRA3","GABRA5","GABRB2","GABRG2","GALC","GAN","GARS1","GBA1","GBE1","GBF1","GDAP1","GEMIN4","GEMIN5","GFER","GFPT1","GIPC1","GJB1","GLDC","GLE1","GMPPB","GNAS","GNB4","GNE","GNPTAB","GOSR2","GRIA3","GRIN2A","GRIN2D","GTF2E2","GTF2H5","HACD1","HADHA","HADHB","HARS1","HCN1","HDAC4","HESX1","HEXB","HINT1","HK1","HMGCL","HNRNPDL","HNRNPK","HRAS","HSD17B4","HSPB1","HSPB3","HSPB8","HSPG2","IARS2","IBA57","IFRD1","IGHMBP2","IL6ST","INF2","INPP5K","IQSEC2","ISCU","ITGA7","ITPR3","IYD","JAG1","JPH1","KARS1","KBTBD13","KCNA2","KCNB1","KCND3","KCNJ18","KCNK9","KIAA0586","KIF1A","KIF1B","KLC2","KLHL41","KLHL9","KRAS","KY","LAMA2","LAMB2","LARGE1","LDB3","LGI3","LGI4","LHX3","LHX4","LIFR","LITAF","LMNA","LMOD3","LPIN1","LRP12","LRP4","LRRK1","LRSAM1","LYST","MAG","MAGEL2","MAP3K20","MARS1","MCM3AP","MDH2","MED25","MEGF10","MFN2","MGME1","MME","MORC2","MPLKIP","MPV17","MPZ","MRE11","MSTO1","MT-ATP6","MT-ATP8","MT-CO1","MT-CO3","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND5","MT-ND6","MT-TE","MT-TK","MT-TL1","MT-TT","MT-TV","MT-TW","MTM1","MTMR14","MTPAP","MTRFR","MTTP","MUSK","MYF6","MYH14","MYH7","MYL1","MYL2","MYO1H","MYO9A","MYORG","MYOT","MYPN","NAGLU","NARS1","NARS2","NDE1","NDRG1","NDUFA1","NDUFA9","NDUFAF2","NDUFS4","NEB","NECAP1","NEFH","NEFL","NFASC","NGLY1","NOTCH2NLC","NRAS","NTRK2","NUS1","OBSCN","OCRL","OPA1","OPA3","ORAI1","PACS2","PARN","PARS2","PAX7","PDHB","PDK3","PDSS1","PDXK","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PEX7","PGAP2","PGAP3","PGM3","PHYH","PIEZO2","PIGB","PIGG","PIGL","PIGN","PIGO","PIGV","PIGW","PIGY","PIK3R5","PITX3","PLA2G6","PLEC","PLEKHG4","PLEKHG5","PLOD1","PLP1","PMM2","PMP2","PMP22","PMPCA","PNKP","PNPLA2","PNPLA6","PNPT1","PODXL","POLG","POLG2","POLR3B","POMGNT1","POMGNT2","POMK","POMT1","POMT2","POU1F1","PPOX","PPP1R21","PPP2R5D","PPP3CA","PRDM12","PRDM13","PRKCG","PRNP","PROP1","PRORP","PRPS1","PRX","PSAP","PSMB8","PSMC1","PTF1A","PTRH2","PYROXD1","QRICH1","RAB3GAP2","RAB7A","RAI1","RAPSN","REEP1","RETREG1","RFC1","RILPL1","RMND1","RMRP","RNASEH1","RNF113A","RNF170","RRM2B","RTEL1","RUBCN","RXYLT1","RYR1","SACS","SAR1B","SBF1","SBF2","SCN3A","SCN4A","SCN8A","SCN9A","SCO2","SCYL1","SCYL2","SELENON","SEPTIN9","SETX","SH3TC2","SHANK3","SIGMAR1","SIL1","SIM1","SLC12A6","SLC13A5","SLC18A3","SLC1A2","SLC1A3","SLC25A1","SLC25A19","SLC25A21","SLC25A4","SLC25A46","SLC35A1","SLC38A3","SLC52A2","SLC5A5","SLC5A6","SLC5A7","SLC9A1","SMN1","SMN2","SMPD1","SNAP25","SNAP29","SNIP1","SNRPN","SNX14","SOX10","SPEG","SPG11","SPTBN4","SPTLC1","SPTLC2","SQSTM1","ST3GAL5","STAC3","STIM1","STX16","SUCLA2","SUCLG1","SURF1","SYNE1","SYNE2","SYNGAP1","SYNJ1","SYT2","SZT2","TAF1","TAOK1","TARDBP","TARS1","TBC1D23","TBC1D24","TBCD","TBCK","TBK1","TCAP","TDP1","TECPR2","TERT","TFG","TG","TIMM50","TINF2","TK2","TMCO1","TMEM240","TMEM43","TNNT1","TOR1A","TPI1","TPM2","TPM3","TPO","TRAK1","TRAPPC11","TRIM2","TRIM32","TRIM37","TRIM8","TRIP4","TRMT5","TRMU","TRPV4","TSEN15","TSHB","TSHR","TSPYL1","TTN","TTPA","TTR","TUBA8","TWNK","TYMP","UBA1","UBA5","UGDH","VAMP1","VANGL1","VAPB","VCP","VPS13A","VPS33A","VRK1","VWA1","WARS1","WDR81","WNK1","WWOX","XK","XPA","XPC","XRCC1","YARS1","YWHAG","ZC4H2","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NEONATAL_HYPOTONIA":{"collection":"C5:HPO","systematicName":"M35229","pmid":"","exactSource":"HP:0001319","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001319","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEONATAL_HYPOTONIA","geneSymbols":["ACOX1","ACTA1","ADNP","ALG11","AP4B1","AP4E1","AP4M1","ARID1B","ARX","ATP2B3","ATXN7","B3GALT6","BCS1L","BIN1","BPTF","BRAF","CAMTA1","CASK","CCDC174","CCDC88A","CDKL5","CFL2","CHRNA1","CHRNB1","CHRND","CHRNE","CLPB","CNTN1","COA6","COG4","COL12A1","COL6A1","COL6A2","COL6A3","COPB1","COQ4","CPT2","CRPPA","CWC27","DLAT","DLK1","DMPK","DNAJC19","DST","EARS2","EEF1A2","EGR2","EIF5A","ERCC6L2","FGFR1","FIG4","FKBP14","FKRP","FKTN","FLNA","FOXG1","FXR1","GABBR2","GABRA2","GATA6","GATAD2B","GDAP1","GLYCTK","GNPTAB","GOT2","GRIA4","H1-4","HADH","HERC2","HNF1A","HNF4A","HSD17B4","IER3IP1","IGHMBP2","KANSL1","KAT6A","KCNK9","KLHL41","KNSTRN","LAMA2","LARGE1","LMOD3","LYRM4","MADD","MAG","MAGEL2","MECP2","MED12","MEG3","MEGF10","MKRN3","MRPS16","MT-TE","MT-TT","MTHFR","MTM1","MUSK","MYT1L","NADK2","NALCN","NDN","NEB","NEXMIF","NFIX","NONO","NPAP1","NSD1","NTNG1","OCRL","ODC1","PAFAH1B1","PCLO","PDE4D","PDHX","PDP1","PDSS2","PEX1","PEX10","PEX12","PEX16","PEX2","PEX26","PEX3","PEX6","PGAP1","PHIP","PIEZO2","PIK3CD","PLCB3","PLOD1","POMK","POMT1","POMT2","POU4F1","PPP2R5D","PRDM5","PRKAR1B","PRPS1","PSMD12","PTRH2","PURA","PWAR1","PWRN1","PYROXD1","RAPSN","RBL2","RPL10","RTL1","RYR1","SCN4A","SDHA","SH2B1","SHANK3","SIM1","SLC12A6","SLC16A2","SLC25A22","SLC25A46","SLC6A8","SLF2","SMC1A","SNORD115-1","SNORD116-1","SNRPN","SON","SOX10","SPATA5","SPOP","SPTBN4","STAG1","SUCLG1","SUMF1","SYNE1","SYT1","TAF6","TBC1D24","TBCK","TBR1","TGFB3","TIMM22","TMCO1","TMEM260","TNNT1","TPM2","TPM3","TSFM","TUBA8","TUFM","UNC80","UPB1","UQCC2","USP7","VAC14","VMA21","VPS13B","VPS53","WAC","WDR19","ZNF148","ZNF469"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MUSCLE_WEAKNESS":{"collection":"C5:HPO","systematicName":"M35231","pmid":"","exactSource":"HP:0001324","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001324","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MUSCLE_WEAKNESS","geneSymbols":["AAAS","AARS1","AARS2","ABCA1","ABCA2","ABCB6","ABCC8","ABCD1","ABHD16A","ABHD5","ACAD9","ACADM","ACADVL","ACBD5","ACOX1","ACTA1","ACTL6B","ACTN2","ACY1","ADA2","ADAR","ADCY5","ADCY6","ADGRG1","ADK","ADNP","ADPRS","ADSS1","AFG3L2","AGK","AGL","AGRN","AGTPBP1","AHCY","AIFM1","AK9","AKT1","ALAD","ALAS2","ALDH18A1","ALDOA","ALG13","ALG14","ALG2","ALS2","AMER1","AMPD1","AMPD3","ANG","ANK1","ANKH","ANO5","ANOS1","ANTXR1","ANXA11","AP2S1","AP3B2","AP3D1","AP5Z1","APTX","AR","ARMC5","ARSA","ARV1","ARX","ASAH1","ASCC1","ASPA","ATG7","ATL1","ATL3","ATP13A2","ATP13A3","ATP1A1","ATP1A2","ATP1A3","ATP2A1","ATP5F1A","ATP5F1D","ATP5F1E","ATP5MC3","ATP5MK","ATP6V1A","ATP6V1E1","ATP7A","ATP7B","ATP9A","ATPAF1","ATPAF2","ATRX","ATXN1","ATXN2","ATXN3","ATXN7","B3GALNT2","B4GALNT1","B4GAT1","BAG3","BAP1","BCOR","BCS1L","BICD2","BICRA","BIN1","BMP6","BMS1","BOLA3","BRAF","BRCC3","BSCL2","BSND","BTD","BTNL2","BVES","C19orf12","C9orf72","CACNA1A","CACNA1B","CACNA1G","CACNA1S","CACNA2D1","CADM3","CAMK2B","CAMLG","CAPN1","CAPN3","CASK","CASQ1","CASR","CAV1","CAV3","CAVIN1","CBL","CCDC141","CCDC174","CCDC78","CCN2","CCN6","CCND1","CCNF","CCR6","CD59","CDC73","CDH23","CDK19","CDKL5","CDKN2A","CELF2","CEP126","CFAP410","CFL2","CHAT","CHCHD10","CHD7","CHKB","CHMP2B","CHP1","CHRNA1","CHRNB1","CHRND","CHRNE","CHST14","CLCN1","CLCN2","CLCN7","CLCNKA","CLCNKB","CLP1","CLTC","CNBP","CNKSR2","CNNM2","CNOT1","CNTN1","CNTNAP1","COA7","COA8","COG8","COL12A1","COL13A1","COL1A1","COL1A2","COL25A1","COL4A1","COL5A1","COL5A2","COL6A1","COL6A2","COL6A3","COL9A1","COL9A2","COL9A3","COLQ","COQ2","COQ4","COQ6","COQ7","COQ8A","COX10","COX20","COX4I1","COX6A1","COX6A2","COX6B1","CPLANE1","CPLX1","CPOX","CPT1A","CPT1C","CPT2","CRLF1","CRPPA","CRYAB","CTNNB1","CYFIP2","CYP11B1","CYP11B2","CYP27A1","CYP27B1","CYP2R1","CYP7B1","D2HGDH","DAG1","DALRD3","DAO","DARS2","DCAF8","DCC","DCTN1","DDHD1","DDHD2","DES","DGUOK","DHDDS","DHFR","DHH","DHTKD1","DHX16","DKK1","DLL4","DMD","DMP1","DMPK","DMXL2","DNA2","DNAJB2","DNAJB4","DNAJB6","DNAJC19","DNM1","DNM2","DNMT1","DNMT3B","DOK7","DOLK","DPAGT1","DPM2","DPM3","DSE","DSTYK","DUSP6","DYM","DYNC1H1","DYSF","EARS2","EBF3","EEF1A2","EGR2","EHHADH","EIF2AK3","EIF2B2","EIF2B3","ELOVL5","ELP2","EMD","EMILIN1","ENPP1","EPB42","EPHA4","ERBB4","ERCC6","ERCC8","ERGIC1","ERLIN2","ETFA","ETFB","ETFDH","EXOC8","EXOSC3","EXOSC5","EXOSC8","EXOSC9","EXTL3","EYA1","FA2H","FAM111B","FAR1","FARS2","FBLN5","FBN1","FBXO28","FBXO38","FDX2","FEZF1","FGD4","FGF12","FGF13","FGF17","FGF23","FGF8","FGFR1","FHL1","FIG4","FIP1L1","FKBP14","FKRP","FKTN","FLAD1","FLI1","FLNC","FLRT3","FLVCR1","FMR1","FOXC2","FOXE1","FOXRED1","FRG1","FUCA1","FUS","FXN","FXR1","FXYD2","FZR1","GAA","GABBR2","GABRA2","GABRA3","GABRA5","GABRB2","GABRG2","GALC","GAN","GARS1","GATM","GBA2","GBE1","GBF1","GCH1","GCK","GDAP1","GEMIN4","GFAP","GFER","GFM2","GFPT1","GGPS1","GIPC1","GJA1","GJB1","GJC2","GLE1","GLT8D1","GM2A","GMPPB","GNA11","GNAO1","GNAS","GNB1","GNB2","GNB4","GNB5","GNE","GNPTAB","GOSR2","GPHN","GPI","GRIA3","GRIN1","GRIN2A","GRIN2D","GRM7","GSN","GTPBP2","GYG1","HACD1","HADHA","HADHB","HAMP","HARS1","HCN1","HESX1","HEXA","HEXB","HFE","HINT1","HIVEP2","HJV","HK1","HLA-B","HLA-DQB1","HLA-DRB1","HMBS","HNRNPA1","HNRNPA2B1","HNRNPDL","HNRNPK","HOXB1","HPRT1","HS6ST1","HSD17B10","HSPB1","HSPB3","HSPB8","HSPD1","HSPG2","HTT","HYCC1","IBA57","IDS","IFIH1","IFRD1","IFT140","IGHMBP2","IL12B","IL17RD","IMPDH2","INF2","INPP5E","INPP5K","IRAK1","IREB2","IRF2BP2","IRF4","IRF5","ISCU","ITGA7","ITGB4","ITPR3","JAG1","JAG2","JPH1","KARS1","KBTBD13","KCNA1","KCNA2","KCNB1","KCNC2","KCNE3","KCNJ1","KCNJ10","KCNJ11","KCNJ18","KCNJ2","KCNJ5","KCNK9","KIF1A","KIF1B","KIF5A","KLHL24","KLHL40","KLHL41","KLHL9","KMT2D","KPNA3","KRAS","KY","L1CAM","LAMA2","LAMB2","LAMP2","LARGE1","LBR","LDB3","LEMD2","LGI4","LIG3","LIMS2","LIPE","LITAF","LMNA","LMNB1","LMOD3","LPIN1","LRIF1","LRP12","LRP4","LRP5","LRPPRC","LRSAM1","LTBP4","LYRM4","LYRM7","LYST","LZTR1","MAP2K2","MAP3K20","MAPT","MARS1","MATR3","MB","MCM3AP","MDH2","MECR","MED25","MEGF10","MEN1","MFF","MFN2","MFSD2A","MGME1","MICOS13","MICU1","MIEF2","MINPP1","MLIP","MLX","MME","MORC2","MPV17","MPZ","MRAS","MRPL12","MRPS2","MRPS25","MSTO1","MT-ATP6","MT-ATP8","MT-CO1","MT-CO2","MT-CO3","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND5","MT-ND6","MT-TE","MT-TF","MT-TH","MT-TI","MT-TK","MT-TL1","MT-TL2","MT-TN","MT-TP","MT-TQ","MT-TS1","MT-TS2","MT-TV","MT-TW","MTAP","MTHFR","MTM1","MTMR14","MTMR2","MTRFR","MTTP","MUSK","MYBPC1","MYF6","MYH14","MYH2","MYH3","MYH7","MYL1","MYL2","MYMK","MYMX","MYO9A","MYOT","MYPN","NABP1","NACC1","NADK2","NAGA","NAGLU","NARS2","NBN","NDE1","NDNF","NDP","NDRG1","NDUFA1","NDUFA10","NDUFA11","NDUFA13","NDUFA6","NDUFA8","NDUFAF1","NDUFAF2","NDUFAF3","NDUFAF4","NDUFAF5","NDUFAF6","NDUFAF8","NDUFB10","NDUFB11","NDUFB3","NDUFB9","NDUFS1","NDUFS2","NDUFS3","NDUFS4","NDUFS6","NDUFS7","NDUFS8","NDUFV1","NDUFV2","NEB","NECAP1","NEFH","NEFL","NEK1","NEU1","NEUROD2","NF1","NF2","NFE2L2","NFU1","NGLY1","NIPA1","NKX2-1","NKX2-5","NOD2","NONO","NOP56","NOTCH2NLC","NPM1","NR3C1","NR4A2","NRAS","NSUN3","NTNG2","NTRK2","NUBPL","NUMA1","NUP54","NUP62","NUS1","NUTM2B-AS1","OAT","OBSCN","OPA1","OPTN","ORAI1","OSTM1","P4HA2","PABPN1","PACS2","PAFAH1B1","PARS2","PAX7","PAX8","PCLO","PCNA","PDCD1","PDE11A","PDGFB","PDK3","PDXK","PET100","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PEX7","PFKM","PFN1","PGAP2","PGK1","PGM1","PGM2L1","PHACTR1","PHKA1","PHKA2","PHKB","PHKG2","PHYH","PI4KA","PIEZO2","PIGF","PIGN","PIGP","PIGQ","PIK3CA","PIK3R5","PLA2G6","PLAA","PLEC","PLEKHG5","PLIN4","PLOD1","PLP1","PLXND1","PML","PMM2","PMP2","PMP22","PMPCA","PMPCB","PNKD","PNKP","PNPLA2","PNPLA6","PNPLA8","PNPT1","POGLUT1","POLG","POLG2","POLR3A","POLR3GL","POLRMT","POMGNT1","POMGNT2","POMK","POMT1","POMT2","PON1","PON2","PON3","POPDC3","POU3F4","PPARGC1A","PPOX","PPP1R15B","PPP3CA","PREPL","PRKACA","PRKAR1A","PRNP","PROK2","PROKR2","PRORP","PRPH","PRPS1","PRRT2","PRX","PSAP","PSMB8","PTDSS1","PTEN","PTPN11","PTPN22","PTRH2","PTS","PUF60","PUS1","PYGM","PYROXD1","RAB7A","RAF1","RAI1","RALGAPA1","RANBP2","RAPSN","RARA","RARS1","RARS2","RASA1","RASA2","RBCK1","REEP1","RELA","REV3L","RFC1","RILPL1","RIT1","RNASEH1","RNF170","RNU12","RPS6KA3","RRAS","RRAS2","RRM2B","RTN2","RUSC2","RXYLT1","RYR1","RYR3","SACS","SALL4","SARDH","SARS1","SAT1","SBF1","SBF2","SCN11A","SCN1A","SCN1B","SCN2A","SCN3A","SCN4A","SCN8A","SCNN1A","SCNN1B","SCNN1G","SCO2","SCYL1","SCYL2","SDHA","SDHAF1","SDHB","SDHD","SECISBP2","SELENON","SEMA3A","SEMA3E","SEPTIN9","SERPING1","SETX","SFRP4","SGCA","SGCB","SGCD","SGCG","SH3TC2","SHMT2","SIGMAR1","SIK1","SIL1","SIX1","SIX5","SKI","SLC12A1","SLC12A3","SLC12A6","SLC13A5","SLC16A2","SLC18A2","SLC18A3","SLC19A3","SLC1A2","SLC22A5","SLC25A1","SLC25A12","SLC25A19","SLC25A20","SLC25A21","SLC25A22","SLC25A24","SLC25A26","SLC25A4","SLC25A42","SLC25A46","SLC26A4","SLC2A3","SLC32A1","SLC33A1","SLC34A1","SLC34A2","SLC34A3","SLC35A2","SLC38A3","SLC39A14","SLC39A8","SLC4A1","SLC52A2","SLC52A3","SLC5A6","SLC5A7","SLC7A7","SLC9A7","SMARCAL1","SMARCB1","SMARCE1","SMCHD1","SMN1","SMN2","SMO","SMPD1","SMPX","SNAP25","SNAP29","SNX10","SOD1","SORD","SOS1","SOS2","SOST","SOX10","SPARC","SPART","SPAST","SPEG","SPG11","SPG21","SPG7","SPP1","SPR","SPRED2","SPRY4","SPTA1","SPTB","SPTBN2","SPTBN4","SPTLC1","SPTLC2","SQSTM1","SRPX2","STAC3","STAG2","STAT1","STAT3","STAT4","STAT5B","STIM1","SUCLA2","SUCLG1","SUFU","SUPT16H","SURF1","SVIL","SYNE1","SYNE2","SYNGAP1","SYNJ1","SYT2","SZT2","TACR3","TAF15","TAFAZZIN","TANGO2","TARDBP","TBCD","TBCE","TBCK","TBK1","TBL1XR1","TCAP","TCIRG1","TCN2","TDP1","TERT","TFAP2A","TFG","TGFB1","TGM6","TIA1","TIMM50","TIMMDC1","TK2","TMEM126B","TMEM165","TMEM43","TMEM63A","TNFRSF11B","TNNC2","TNNT1","TNPO3","TNR","TNXB","TOE1","TOP3A","TOR1A","TOR1AIP1","TP53","TPI1","TPM2","TPM3","TRAF7","TRAK1","TRAPPC11","TRAPPC6B","TRDN","TREM2","TREX1","TRH","TRIM2","TRIM32","TRIM8","TRIP4","TRMT1","TRMT10A","TRMT5","TRMU","TRPM7","TRPV4","TSFM","TSHR","TTC19","TTN","TTPA","TTR","TUBB3","TUBB6","TWNK","TYMP","UBA1","UBA2","UBA5","UBAP1","UBE2T","UBE3B","UBQLN2","UFC1","UNC13A","UNC45B","UQCC3","UQCRFS1","USP48","USP8","VAMP1","VAPB","VARS1","VARS2","VCP","VDR","VHL","VMA21","VPS13A","VPS13D","VPS50","VRK1","VWA1","WARS1","WARS2","WASHC5","WDR11","WWOX","XK","XRCC1","XRCC2","XYLT2","YARS1","YARS2","YME1L1","YWHAG","YY1","ZBTB16","ZC4H2","ZFHX4","ZFTA","ZFYVE26","ZFYVE27","ZNF526","ZNRF3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPOGLYCEMIC_COMA":{"collection":"C5:HPO","systematicName":"M35232","pmid":"","exactSource":"HP:0001325","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001325","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOGLYCEMIC_COMA","geneSymbols":["ABCC8","AKT2","ETFA","ETFB","ETFDH","GCK","GLUD1","HADH","HMGCL","HMGCS2","HNF1A","INSR","KCNJ11","MC2R","MRAP","NFKB2","NNT","STAR","TXNRD2","UCP2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_EEG_WITH_IRREGULAR_GENERALIZED_SPIKE_AND_WAVE_COMPLEXES":{"collection":"C5:HPO","systematicName":"M35233","pmid":"","exactSource":"HP:0001326","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001326","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EEG_WITH_IRREGULAR_GENERALIZED_SPIKE_AND_WAVE_COMPLEXES","geneSymbols":["AP2M1","CHD2","GABRG2","GRIN2A","NEXMIF","SAMD12","SCN1A","SLC2A1","SLC6A1","SRPX2","STARD7","SYNGAP1","TBC1D24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PHOTOSENSITIVE_MYOCLONIC_SEIZURE":{"collection":"C5:HPO","systematicName":"M35234","pmid":"","exactSource":"HP:0001327","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001327","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PHOTOSENSITIVE_MYOCLONIC_SEIZURE","geneSymbols":["GABRA1","GABRG2","KCTD7","PCDH19","SCN1A","SCN1B","SCN2A","SCN9A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SPECIFIC_LEARNING_DISABILITY":{"collection":"C5:HPO","systematicName":"M35235","pmid":"","exactSource":"HP:0001328","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001328","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPECIFIC_LEARNING_DISABILITY","geneSymbols":["ABCD1","ACTB","ACTG1","ADGRG1","AFF2","ALDH18A1","ALDOA","ALMS1","AMACR","AMER1","ANGPT2","APC","APC2","ARL6","ARVCF","ARX","ASPA","ATP7A","AUTS2","B3GALNT2","B4GAT1","BBS1","BLM","BPTF","C9orf72","CA2","CACNA1A","CACNA1H","CCDC28B","CDC45","CDC6","CDON","CDT1","CHCHD10","CHMP2B","CHRNA7","CHSY1","CKAP2L","CLTCL1","CNKSR2","COL4A1","COMT","COQ2","COX7B","CRPPA","CYLD","CYP27A1","DAG1","DARS2","DCC","DGCR2","DGCR6","DGCR8","DIS3L2","DISP1","DLL1","DMD","DNAAF4","DNAJC21","DNAL4","DPP9","DPYD","DVL1","DVL3","EHMT1","ELN","ESS2","EXTL3","FANCF","FARSB","FBXW7","FGF8","FGFR1","FIBP","FKRP","FKTN","FLT4","FMR1","FOXH1","FOXP2","FRMD5","FUS","FZD2","GABRA1","GABRB3","GABRG2","GALT","GAS1","GCLC","GDI1","GJC2","GLI2","GLUD1","GMNN","GNPTAB","GP1BB","GRB10","GRIA3","GRIN2A","GRN","H19","HAL","HCCS","HDAC8","HERC2","HINT1","HIRA","HMGA2","HNRNPA1","HNRNPA2B1","HTT","IFNG","IGF2","INPP5K","IRF6","JAG1","JMJD1C","JRK","KAT6B","KCNA1","KCNC3","KCNJ2","KCNJ5","KIF11","KIFBP","KLF13","LARGE1","LAS1L","LEMD3","LTBP1","LTBP4","LYST","MAGEL2","MAN2B1","MAP1B","MAP2K2","MAPT","MBTPS2","MED13L","MICU1","MID1","MKRN3","MLXIPL","MORC2","MSX1","MT-CO1","MT-CO2","MT-CO3","MT-ND1","MT-ND4","MT-ND5","MT-ND6","MT-TF","MT-TH","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TW","MTHFR","MTOR","MYCN","MYO5A","NDN","NDUFB11","NECTIN1","NF1","NIPA1","NIPA2","NODAL","NOTCH3","NPAP1","NSD1","NTN1","NTRK1","OCA2","OPA3","ORC1","ORC4","ORC6","PAPPA2","PCGF2","PI4KA","PIEZO1","PIEZO2","PIGH","PIK3C2A","PLA2G6","PLCH1","PMPCA","PNKP","POMGNT1","POMGNT2","POMK","POMT1","POMT2","PRKAR1B","PRKD1","PRMT7","PRNP","PRRT2","PSEN1","PSMD12","PTCH1","PTDSS1","PWAR1","PWRN1","RAD51","RDH11","RNF168","RNU4ATAC","RPS23","RREB1","RXYLT1","SARDH","SBDS","SBF2","SC5D","SEC24C","SETD2","SH2B1","SHH","SIL1","SIM1","SIX3","SIX6","SLC25A15","SLC2A1","SLC2A10","SLC2A3","SMAD4","SMARCA2","SMC1A","SMPD1","SNORD115-1","SNORD116-1","SNRPN","SOX2","SPART","SPG11","SPG7","SPRED1","SPTBN1","SQSTM1","SRP54","SRPX2","SRY","STAG2","STIL","STIM1","SUGCT","SYN1","TARDBP","TBK1","TBX1","TCF12","TCF4","TCTN3","TDGF1","TERC","TERT","TGIF1","THOC6","TINF2","TMEM106B","TMEM63A","TMEM94","TP63","TREM2","TRIO","TSC1","TSC2","TUBB2B","TUBB3","TUBB4A","TUBG1","TWNK","UBE3B","UFD1","VCP","VPS13D","VPS41","WAS","WDR1","WIPF1","WNT5A","YY1AP1","ZFYVE26","ZIC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABSENT_SEPTUM_PELLUCIDUM":{"collection":"C5:HPO","systematicName":"M41234","pmid":"","exactSource":"HP:0001331","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001331","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_SEPTUM_PELLUCIDUM","geneSymbols":["ARNT2","B3GALNT2","B4GAT1","CDC42BPB","CDON","CILK1","CNOT1","COL18A1","COL4A1","COX7B","CPLX1","CRPPA","CSGALNACT1","CSPP1","CTBP1","DAG1","DHCR24","DYNC1I2","EHMT1","EZH2","FANCI","FGFR1","FGFR2","FGFRL1","FKRP","FKTN","FOXA2","GLI2","GPR161","HCCS","HESX1","HYLS1","KIAA0586","KIF7","KRAS","L1CAM","LARGE1","LETM1","LHX4","MBTPS2","MUSK","NDUFB11","NFIX","NSD2","OTX2","PIEZO2","PIGA","PLCH1","POMGNT1","POMGNT2","POMK","POMT1","POMT2","POU1F1","PPP1R12A","PROKR2","PROP1","PTDSS1","ROBO1","RSPO2","RXYLT1","SOX2","SOX3","SSR4","STAG2","WDR11","WNT3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DYSTONIA":{"collection":"C5:HPO","systematicName":"M35236","pmid":"","exactSource":"HP:0001332","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001332","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DYSTONIA","geneSymbols":["AARS1","AARS2","ABCD1","ACADS","ACER3","ACOX1","ACSF3","ACTA1","ACTB","ADAR","ADCY5","ADH1C","AFG3L2","AGTPBP1","ALDH18A1","ALDH6A1","ALG2","ALG3","ALG9","ALS2","AMPD2","ANO3","AOPEP","AP3D1","AP4B1","AP4E1","AP4M1","AP4S1","APOE","APTX","ARSA","ARV1","ARX","ATAD3A","ATG7","ATM","ATN1","ATP13A2","ATP1A2","ATP1A3","ATP5F1A","ATP5F1D","ATP5F1E","ATP5MC3","ATP5MK","ATP5PO","ATP7B","ATPAF1","ATPAF2","ATXN1","ATXN2","ATXN3","ATXN8OS","AUH","B3GALT6","B4GALNT1","BCAP31","BCAS3","BSCL2","C19orf12","CABP4","CACNA1A","CACNA1B","CACNA1E","CACNA1G","CARS1","CARS2","CASK","CASR","CDC40","CDK10","CDKL5","CDON","CEP85L","CHMP2B","CHN1","CHRNA2","CHRNA4","CHRNB2","CIZ1","CKAP2L","CLCN4","CLPB","CLTC","CNP","CNTNAP1","COASY","COL12A1","COL25A1","COL4A1","COL6A1","COL6A2","COL6A3","COLEC11","COPB1","COQ2","COQ8A","COQ9","COX20","CP","CPLX1","CRH","CRLS1","CTC1","CUX2","CWF19L1","CYB5A","CYB5R3","CYP27A1","CYP2U1","DALRD3","DCAF17","DCTN1","DDC","DEGS1","DEPDC5","DHDDS","DHX30","DISP1","DLAT","DLD","DLL1","DMXL2","DNAJC12","DNAJC13","DNAJC19","DNAJC6","DNM1L","DRD2","DRD5","DTYMK","EARS2","ECHS1","ECM1","EFEMP2","EIF2AK2","EIF4G1","EMC1","EPRS1","FA2H","FARS2","FBLN1","FBLN5","FBXL4","FBXO7","FGF8","FGFR1","FGFR2","FGFR3","FITM2","FLI1","FOXG1","FOXH1","FOXP2","FRMD5","FRRS1L","FTL","FUCA1","FUS","FXN","GABBR2","GABRB2","GAD1","GALT","GAMT","GAS1","GBA1","GCDH","GCH1","GDAP2","GFM2","GIGYF2","GJC2","GLB1","GLE1","GLI2","GLUD2","GM2A","GNA11","GNAL","GNAO1","GNAS","GNB1","GRIA2","GRIK2","GRIN1","GRIN2A","GRIN2B","GRM7","GSX2","GTPBP2","H4C5","HACE1","HECW2","HEXB","HIBCH","HINT1","HIVEP2","HK1","HNRNPH1","HPCA","HPDL","HPRT1","HSD17B10","HSPG2","HTRA2","HTT","IFIH1","IMPDH2","IREB2","IRF2BPL","ITGA7","JAM2","JPH3","KARS1","KAT6A","KCNA1","KCNA4","KCNC3","KCNMA1","KCNN2","KCNQ2","KCNT1","KCTD17","KIF1C","KIF21A","KMT2B","LIPT1","LIPT2","LONP1","LRPPRC","LRRK2","LSM11","LTBP1","MAFB","MAPT","MARS2","MAT1A","MCOLN1","MDH2","MECP2","MECR","MED23","MED27","MICU1","MMADHC","MMUT","MOGS","MPV17","MRE11","MRPS25","MRPS34","MT-ATP6","MT-ATP8","MT-CO3","MT-CYB","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND4L","MT-ND5","MT-ND6","MT-TK","MT-TL1","MT-TT","MT-TV","MT-TW","MTO1","MYF5","MYORG","NAA10","NADK2","NAXD","NAXE","NBEA","NDUFA12","NDUFA2","NDUFA4","NDUFA6","NDUFA9","NDUFAF4","NDUFAF5","NDUFAF6","NDUFS1","NDUFS3","NDUFS7","NDUFS8","NEK9","NEUROD2","NGLY1","NHLRC2","NKX2-1","NKX6-2","NODAL","NPC1","NPC2","NR4A2","NTNG1","NUP54","NUP62","OCLN","OFD1","OGDH","PANK2","PARK7","PCBD1","PCCA","PCCB","PCDH12","PCGF2","PDE2A","PDGFB","PDGFRB","PDHA1","PDHX","PHOX2A","PI4KA","PIGP","PIGQ","PIK3R5","PINK1","PLA2G6","PLAA","PLCH1","PLEKHG2","PLP1","PMPCB","PNKD","PNKP","PNPLA8","PNPT1","PODXL","POLG","POLR1B","POLR1C","POLR1D","POLR3A","POLR3B","POLR3K","PPFIBP1","PPIL1","PPP2R2B","PRDM13","PRDX3","PRKAR1B","PRKCG","PRKN","PRKRA","PRRT2","PSAP","PSEN1","PTCH1","PTS","PURA","QDPR","RAB11B","RARS1","REEP1","REPS1","RFX7","RHOBTB2","RNASEH2A","RNASEH2B","RNASEH2C","RNASET2","RNF170","RNU7-1","ROBO3","SALL4","SAMHD1","SCN1A","SCN1B","SCN2A","SCN8A","SCO2","SCP2","SDHA","SDHB","SDHD","SEPSECS","SERAC1","SETX","SGCE","SH2B1","SHH","SHQ1","SIGMAR1","SIK1","SIX3","SLC13A5","SLC16A2","SLC18A2","SLC19A3","SLC1A3","SLC20A2","SLC25A22","SLC25A42","SLC2A1","SLC2A3","SLC30A10","SLC30A9","SLC32A1","SLC35B2","SLC39A14","SLC39A8","SLC44A1","SLC6A3","SLC6A8","SLC9A6","SLITRK2","SMC1A","SNCA","SNCAIP","SNORD118","SOX10","SPATA5","SPATA5L1","SPG11","SPOP","SPR","SPRED1","SPTBN1","SPTLC1","SQSTM1","STAG2","STARD7","STIL","STN1","STUB1","STX16","STXBP1","SUCLA2","SUCLG1","SUOX","SUPT16H","SURF1","SYNE1","SYNGAP1","SYNJ1","SYT1","TACO1","TACSTD2","TAF1","TANGO2","TBC1D24","TBCD","TBP","TCOF1","TDGF1","TGFB2","TGIF1","TGM6","TH","THAP1","TIMM8A","TMEM106B","TMEM151A","TMEM163","TMEM240","TMEM63C","TMEM67","TNR","TOR1A","TPI1","TPK1","TRAPPC11","TRAPPC12","TREX1","TRIM8","TRIT1","TRPM3","TRPV4","TSEN15","TSEN2","TSEN34","TSEN54","TSFM","TSPOAP1","TTBK2","TTC19","TTPA","TUBA1A","TUBB2B","TUBB3","TUBB4A","TWIST1","TXN2","UBA5","UBAP1","UBE3C","UBQLN2","UBTF","UCHL1","UFC1","UFM1","UGDH","UPB1","UQCRQ","VAC14","VAMP1","VAMP2","VCP","VPS11","VPS13A","VPS13C","VPS13D","VPS16","VPS35","VPS37A","VPS41","VPS4A","WARS2","WDR45","WDR73","XK","YIF1B","YY1","ZC4H2","ZIC2","ZNF142"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_COMMUNICATING_HYDROCEPHALUS":{"collection":"C5:HPO","systematicName":"M35237","pmid":"","exactSource":"HP:0001334","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001334","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_COMMUNICATING_HYDROCEPHALUS","geneSymbols":["B4GAT1","CDC42BPB","CDCA7","CRTAP","DNAI1","DNMT3B","FBN1","GCDH","HELLS","HERC1","MAN2B1","MPDZ","P4HB","PTEN","SEC24D","SKI","SLC2A1","TRIM71","TRNT1","TRPV6","ZBTB24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BIMANUAL_SYNKINESIA":{"collection":"C5:HPO","systematicName":"M35238","pmid":"","exactSource":"HP:0001335","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001335","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BIMANUAL_SYNKINESIA","geneSymbols":["ANOS1","CCDC141","CDH2","CEP152","CHD7","DCC","DNAL4","DUSP6","FEZF1","FGF17","FGF8","FGFR1","FLRT3","GDF6","HESX1","HS6ST1","IL17RD","KNL1","LARGE1","NDNF","NTN1","PROK2","PROKR2","RAD51","ROBO1","SEMA3A","SOX10","SPRY4","SVBP","TACR3","TMEM147","WDR11"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MYOCLONUS":{"collection":"C5:HPO","systematicName":"M35239","pmid":"","exactSource":"HP:0001336","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001336","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MYOCLONUS","geneSymbols":["AARS1","ABCA7","ABCD1","ACTL6B","ADAR","ADCY5","ADRA2B","ADSL","AFF3","AFG3L2","AKT1","AKT3","AMT","ANO3","AP2M1","AP3B2","AP5Z1","APOE","APP","ARV1","ARX","ASAH1","ATAD1","ATM","ATN1","ATP13A2","ATP1A2","ATP1A3","ATP6V0A1","ATP6V1A","ATP6V1B2","ATXN2","BAP1","BOLA3","BRAT1","BSCL2","CACNA1A","CACNA1B","CACNA1E","CACNA1H","CACNA2D1","CACNB4","CARS2","CASK","CASR","CCDC88A","CDK19","CDKL5","CELF2","CERS1","CHD2","CHMP2B","CIC","CILK1","CIZ1","CLCN2","CLCN4","CLN3","CLN5","CLN6","CLN8","CLPB","CLTC","CNKSR2","CNPY3","CNTN2","COG8","COQ2","COQ5","COQ8A","COX4I1","CPLX1","CRLS1","CSTB","CTNND2","CTSF","CUX2","CYFIP2","CYP27A1","DAB1","DALRD3","DDC","DENND5A","DHDDS","DHFR","DMXL2","DNAJC5","DNAJC6","DNM1","DOCK7","DRD2","DTYMK","EEF1A2","EFHC1","EIF2AK2","ELOVL5","EPM2A","FARS2","FBXO28","FBXO7","FGF12","FGF13","FOXRED1","FRMD5","FRRS1L","FTL","FZR1","GABBR2","GABRA1","GABRA2","GABRA5","GABRB2","GABRB3","GABRD","GABRG2","GALC","GAMT","GBA1","GFAP","GLB1","GLDC","GLRA1","GLRB","GLRX5","GLYCTK","GNA11","GNAO1","GNAS","GNB1","GOSR2","GPHN","GRIA3","GRIK2","GRIN1","GRIN2A","GRIN2B","GRIN2D","GRM7","GUF1","HCN1","HEXB","HIBCH","HLA-DQB1","HMGCL","HNRNPU","HTT","INPP5E","IRF4","JAG1","JRK","KCNA1","KCNA2","KCNB1","KCNC1","KCNC2","KCNC3","KCND3","KCNN2","KCNQ2","KCNQ3","KCTD17","KCTD7","KIF1B","KIF1C","KIF5A","KMT2B","LIAS","LIG3","LMNB2","MAPK10","MAPT","MARCHF6","MECP2","MECR","MINPP1","MOCS1","MOCS2","MRE11","MT-ATP6","MT-CO1","MT-CO2","MT-CO3","MT-ND1","MT-ND4","MT-ND5","MT-ND6","MT-TF","MT-TH","MT-TI","MT-TK","MT-TL1","MT-TP","MT-TQ","MT-TS1","MT-TS2","MT-TW","MTOR","MTPAP","NAGA","NARS1","NAXD","NDUFA1","NDUFA4","NDUFAF3","NDUFV1","NECAP1","NEU1","NEUROD2","NF2","NFASC","NFU1","NGLY1","NHLRC1","NHLRC2","NKX2-1","NOL3","NOP56","NPTX1","NTNG1","NTRK2","NUP214","NUP54","NUP62","NUS1","OCA2","PACS2","PARS2","PCDH19","PDGFB","PDHA1","PET100","PGAP2","PGAP3","PGM3","PHACTR1","PIGA","PIGL","PIGO","PIGP","PIGQ","PIGV","PIGW","PIGY","PIK3CA","PLA2G6","PLCB1","PLPBP","PNKP","PNPO","PODXL","POLG","POLR1C","POMGNT1","PPP3CA","PPT1","PRDM8","PRDX3","PRICKLE1","PRKCG","PRNP","PRRT2","PSAP","PSAT1","PSEN1","PSEN2","PTCD3","PTS","PURA","QDPR","RAPGEF2","RFT1","RMND1","RORA","RORB","SAMD12","SATB1","SC5D","SCARB2","SCN1A","SCN1B","SCN2A","SCN3A","SCN8A","SCN9A","SDHA","SDHD","SEMA6B","SERPINI1","SGCE","SIK1","SLC13A5","SLC1A2","SLC1A4","SLC25A10","SLC25A12","SLC25A19","SLC25A22","SLC25A46","SLC2A1","SLC2A3","SLC32A1","SLC38A3","SLC6A1","SLC6A5","SLC7A6OS","SMARCB1","SMARCE1","SMC1A","SMO","SMS","SNCA","SORL1","SOX10","SPTAN1","ST3GAL3","ST3GAL5","STAMBP","STARD7","STX16","SUCLG1","SUFU","SYNGAP1","SYNJ1","SZT2","TAF1","TBC1D24","TBP","TERT","TH","THAP1","TIMMDC1","TMEM231","TNRC6A","TOE1","TOMM40","TOR1A","TPP1","TRAF7","TRAK1","TRAPPC12","TREM2","TRIM8","TSEN54","TSPOAP1","TSPYL1","TWNK","TXN2","TYROBP","UBA5","UBE3A","UFC1","VPS13D","VPS41","VPS53","WDR45","WWOX","YEATS2","YRDC","YWHAG","ZNHIT3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_TREMOR":{"collection":"C5:HPO","systematicName":"M35240","pmid":"","exactSource":"HP:0001337","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001337","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TREMOR","geneSymbols":["AARS1","AARS2","AASS","ABCB11","ABCB4","ABCB6","ABCB7","ABHD12","ACBD5","ACTL6B","ADA2","ADAMTS13","ADAR","ADCY5","ADGRV1","ADH1C","ADPRS","ADRA2B","AFG3L2","AHI1","AIFM1","AKT1","ALDH18A1","ALS2","AMACR","ANO10","ANO3","ANOS1","AP2M1","AP3B2","APC2","APTX","AR","ARL13B","ARL3","ARMC9","ARSA","ARV1","ARX","ASAH1","ASNS","ATCAY","ATG7","ATM","ATN1","ATP13A2","ATP1A2","ATP1A3","ATP2B3","ATP6AP2","ATP6V1A","ATP7B","ATP8B1","ATXN1","ATXN10","ATXN2","ATXN7","ATXN8OS","B9D1","B9D2","BAZ1B","BCL7B","BEAN1","BRAT1","BSCL2","BUD23","C19orf12","CA8","CACNA1A","CACNA1B","CACNA1C","CACNA1G","CACNA1S","CACNA2D1","CAMTA1","CARS1","CARS2","CASK","CBY1","CC2D2A","CCDC141","CCDC88C","CD28","CDC42BPB","CDH23","CDK19","CDKL5","CELF2","CEP104","CEP120","CEP126","CEP41","CHCHD10","CHCHD2","CHD2","CHD7","CIZ1","CLCN2","CLCN7","CLIP2","CLN5","CLPB","CLTC","CNKSR2","CNTN2","COA7","COL6A3","COQ2","COQ5","COQ8A","CP","CPLANE1","CRAT","CSPP1","CSTB","CTC1","CTDP1","CTH","CTLA4","CTNND2","CTSF","CUL4B","CWF19L1","CYFIP2","CYP27A1","CYP7B1","DAB1","DALRD3","DARS2","DCC","DCTN1","DDC","DDOST","DHDDS","DLST","DMXL2","DNAJC13","DNAJC19","DNAJC30","DNAJC6","DNM1","DNM1L","DNMT1","DNMT3A","DPAGT1","DPM1","DRD3","DUSP6","EEF1A2","EIF2AK2","EIF4G1","EIF4H","ELN","ELOVL1","ELOVL4","ELOVL5","EPAS1","EPRS1","ERCC2","ERCC3","ERCC4","ERCC5","ERCC6","ERCC8","ERLIN2","FAM149B1","FAR1","FARS2","FBXO28","FBXO7","FEZF1","FGF12","FGF13","FGF14","FGF17","FGF8","FGFR1","FH","FKBP6","FLRT3","FLVCR1","FMR1","FRMPD4","FTL","FUS","FXN","FZR1","GABBR2","GABRA1","GABRA2","GABRA3","GABRA5","GABRB2","GABRD","GABRG2","GALC","GALT","GAMT","GBA1","GBA2","GCDH","GCH1","GCK","GGT1","GIGYF2","GJA5","GJA8","GJB1","GJC2","GLUD2","GNAO1","GOSR2","GPAA1","GPT2","GRIA3","GRIK2","GRIN1","GRIN2D","GRM1","GRM7","GSS","GTF2E2","GTF2H5","GTF2I","GTF2IRD1","GTF2IRD2","GTPBP2","HCN1","HESX1","HEXB","HIBCH","HMBS","HMGA2","HNF4A","HPCA","HS6ST1","HSD17B4","HSPD1","HTRA2","HTT","HYCC1","HYLS1","IFIH1","IFRD1","IFT74","IL17RD","IMPDH2","INPP5E","ITM2B","ITPA","ITPR1","JAG1","JPH3","KARS1","KATNIP","KCNA1","KCNA2","KCNB1","KCNC1","KCNC3","KCND3","KCNJ10","KCNJ18","KCNK4","KCNN2","KIAA0586","KIAA0753","KIF1B","KIF1C","KIF7","KMT2B","KNSTRN","LAMA1","LEMD2","LEMD3","LIMK1","LMAN2L","LMNB1","LNPK","LRP12","LRPPRC","LRRK2","LSM11","LYST","MAG","MAN1B1","MAOA","MAPT","MARCHF6","MARS1","MAX","MDH2","MECP2","MED11","MEN1","METTL27","MFN2","MICU1","MKS1","MLXIPL","MMAA","MMACHC","MME","MORC2","MPLKIP","MPZ","MRE11","MRPL12","MRPS34","MSTO1","MT-ATP6","MT-CO1","MT-CO3","MT-CYB","MT-ND1","MT-ND2","MT-ND4","MT-ND4L","MT-ND5","MT-ND6","MT-TT","MTFMT","MYBPC1","MYH14","MYL2","MYO5A","NARS1","NAXE","NCF1","NDNF","NDRG1","NDUFS2","NECAP1","NEFL","NEMF","NEU1","NEUROD2","NEXMIF","NF1","NFASC","NFE2L2","NGF","NGLY1","NIPA1","NKX2-1","NKX6-2","NOL3","NONO","NOP56","NOTCH2NLC","NPHP1","NPTX1","NR1H4","NR4A2","NSD1","NTNG1","NTNG2","NTRK2","NUS1","NUTM2B-AS1","OCA2","OFD1","OPA1","OPA3","OPHN1","OXR1","PACS2","PAH","PANK2","PARK7","PARS2","PCBD1","PCDH19","PDE10A","PDE6D","PDE8B","PDGFB","PDGFRB","PDHA1","PDK3","PDYN","PEX10","PEX16","PEX2","PEX6","PGAP1","PGK1","PHIP","PI4KA","PIBF1","PIGA","PIGN","PIGP","PIGQ","PIK3CA","PIK3CD","PIK3R5","PINK1","PITRM1","PLA2G6","PLP1","PMM2","PMP2","PMP22","PMPCA","PNKP","PNP","PNPLA6","PODXL","POLG","POLG2","POLR1C","POLR3A","POLR3B","POU4F1","PPP1R15B","PPP2R2B","PPP3CA","PRDX1","PRDX3","PRICKLE1","PRKAR1B","PRKCG","PRKN","PRKRA","PRNP","PROK2","PROKR2","PRORP","PRPS1","PSAP","PTEN","PTS","PUS7","QDPR","QRICH1","RAB39B","RAB3GAP2","RARS1","REEP2","REPS1","RET","RFC1","RFC2","RILPL1","RLIM","RNASEH2A","RNASEH2B","RNASEH2C","RNF113A","RNU12","RNU7-1","RORA","RPGRIP1L","RPL10","RRM2B","SACS","SAMD12","SAMHD1","SATB1","SBF2","SCARB2","SCN1A","SCN1B","SCN2A","SCN3A","SCN8A","SCN9A","SCP2","SCYL1","SDHA","SDHAF2","SDHB","SDHC","SDHD","SEMA3A","SEMA6B","SETD2","SETX","SFXN4","SGCE","SH3TC2","SIGMAR1","SIK1","SLC12A6","SLC13A5","SLC18A2","SLC19A3","SLC1A2","SLC1A3","SLC20A2","SLC25A11","SLC25A13","SLC25A22","SLC25A4","SLC25A46","SLC2A1","SLC30A10","SLC32A1","SLC38A3","SLC39A14","SLC39A4","SLC5A7","SLC6A1","SLC6A17","SLC6A3","SLC9A1","SMC1A","SMG9","SMN1","SMN2","SNCA","SNCAIP","SNORD118","SNRPN","SNX10","SOX10","SPEN","SPG11","SPR","SPRY4","SPTBN1","SPTBN2","SPTLC1","SQSTM1","STARD7","STUB1","STX1A","STX1B","STXBP1","SUFU","SYNGAP1","SYNJ1","SZT2","TACR3","TAF1","TARS1","TAT","TBC1D24","TBL2","TBP","TCIRG1","TCTN1","TCTN2","TCTN3","TECR","TENM4","TFG","TGM6","TH","THG1L","THOC2","TIMM8A","TK2","TMCO1","TMEM106B","TMEM127","TMEM216","TMEM218","TMEM222","TMEM237","TMEM240","TMEM270","TMEM63A","TMEM67","TMEM70","TNFRSF1B","TNFSF11","TNNT1","TNPO2","TOGARAM1","TOPORS","TOR1A","TPI1","TPK1","TPP1","TPR","TRAK1","TRAPPC11","TRAPPC6B","TREX1","TRIM8","TRIO","TRMT5","TSFM","TSHR","TSPOAP1","TTC19","TTPA","TTR","TUBB4A","TWNK","UBA5","UBE3A","UBE3C","UCHL1","UFC1","UGT1A1","UQCRC1","UROC1","VAMP1","VAPB","VCP","VHL","VLDLR","VPS13A","VPS13C","VPS13D","VPS35","VPS37D","VRK1","VWA3B","WARS2","WDR11","WDR45","WDR81","WFS1","WWOX","XPNPEP3","YEATS2","YWHAG","YY1","ZFR","ZFYVE26","ZNF142"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PARTIAL_AGENESIS_OF_THE_CORPUS_CALLOSUM":{"collection":"C5:HPO","systematicName":"M35241","pmid":"","exactSource":"HP:0001338","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001338","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PARTIAL_AGENESIS_OF_THE_CORPUS_CALLOSUM","geneSymbols":["AARS1","AMER1","ARID1B","C2CD3","CARS1","CDC40","CDK5RAP2","CENPE","CLCN3","CRPPA","DDX3X","DHCR24","DHCR7","ERCC2","ERCC3","FRA10AC1","FRMD4A","GLI2","GPSM2","GTF2E2","GTF2H5","HECTD4","KAT5","KATNB1","KDM5B","KIDINS220","L1CAM","LONP1","LRP2","LRPPRC","LRRC32","MAN2C1","MDH1","MED12","MPLKIP","MRPS25","NSD1","OSTM1","PDHA1","PDHX","PLCH1","PLK4","PTCH1","RNF113A","RNU4ATAC","ROBO1","SLC25A19","SUPT16H","TARS1","TCF12","TMEM260","TNR","TRAPPC12","TUBA1A","TUBB","TUBB2B","TUBB3","WDR4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LISSENCEPHALY":{"collection":"C5:HPO","systematicName":"M35242","pmid":"","exactSource":"HP:0001339","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001339","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LISSENCEPHALY","geneSymbols":["ACTB","ACTG1","ADAMTS3","ADGRG1","AKT3","ALG12","ANKLE2","APC2","ARHGAP31","ARX","ASPM","ATP6V0A2","ATP6V1A","ATP6V1E1","ATR","B3GALNT2","B4GAT1","BLTP1","CAMSAP1","CASK","CCBE1","CCDC88A","CDK5","CDK5RAP2","CDK6","CDKL5","CENPE","CENPJ","CEP135","CEP152","CEP63","CEP85L","CIT","COL4A1","COPB2","CPT2","CRADD","CRPPA","CSNK2A1","CTNNA2","CTU2","DAG1","DCHS1","DCX","DHCR24","DLK1","DMXL2","DYNC1H1","EML1","ETFA","ETFB","ETFDH","EXOSC5","FAT4","FBXO28","FH","FIG4","FKRP","FKTN","FLI1","FOXG1","FRMD5","FTO","GFM2","GMPPB","GNAO1","GON7","GPX4","GRIN1","GRM7","HIC1","ISCA1","KAT6B","KATNB1","KCNA1","KIF14","KIF2A","KIFBP","KNL1","LAGE3","LAMA2","LAMB1","LAMC3","LARGE1","LMNB1","MACF1","MCM7","MCPH1","MEG3","METTL5","MFSD2A","MLYCD","MPDZ","MTOR","NARS1","NCAPD3","NDE1","NEK1","NEUROD2","NFIX","NSDHL","NUP107","NUP133","NUP37","OCLN","OSGEP","PAFAH1B1","PDHB","PEX10","PEX13","PEX2","PHC1","PHGDH","PI4KA","PIDD1","PIGP","PIGQ","PIK3CA","PIK3R2","PNKP","POMGNT1","POMGNT2","POMK","POMT1","POMT2","PPFIBP1","PRKDC","PSAT1","PYCR2","RAB18","RAB3GAP1","RAB3GAP2","RELN","RMND1","RNU4ATAC","RTL1","RTTN","RXYLT1","SARS1","SASS6","SCN1B","SCN2A","SIK1","SLC25A19","SLC25A22","SLC30A9","SLC32A1","SNAP29","SRPX2","STIL","STS","TAF13","TBC1D20","TBR1","TCTN1","TCTN2","TMTC3","TMX2","TP53RK","TP73","TPRKB","TRAPPC10","TRAPPC14","TRIM8","TUBA1A","TUBB","TUBB2B","TUBB3","TUBG1","TUBGCP2","TUBGCP6","VAC14","VIPAS39","VLDLR","VPS33B","WARS1","WDR26","WDR4","WDR62","WDR73","YRDC","YWHAE","ZNHIT3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CEREBRAL_HEMORRHAGE":{"collection":"C5:HPO","systematicName":"M35243","pmid":"","exactSource":"HP:0001342","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001342","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CEREBRAL_HEMORRHAGE","geneSymbols":["ABCC6","ACTA1","ACVRL1","ADA2","AKT1","APP","BAP1","BRCC3","CCM2","CD46","CFH","CFI","COL4A1","CPT2","CST3","DLST","DNMT3A","ENG","EPAS1","EPOR","EXT2","F13A1","F13B","FCGR2C","FGA","FGB","FGG","FH","FLNA","FN1","GDF2","GGCX","HADHB","HELLPAR","IKBKG","JAK2","KIF1B","KRIT1","LMOD2","MAX","MDH2","NDE1","NF1","NF2","NOTCH3","PDCD10","PDGFB","PIK3CA","PROS1","RET","SDHA","SDHAF2","SDHB","SDHC","SDHD","SH2B3","SLC25A11","SMAD4","SMARCB1","SMARCE1","SMO","SNORD118","STAT2","SUFU","TERT","TMEM127","TRAF7","USP18","VHL"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABSENT_SPEECH":{"collection":"C5:HPO","systematicName":"M35244","pmid":"","exactSource":"HP:0001344","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001344","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_SPEECH","geneSymbols":["ABHD16A","ACOX1","ACTL6B","ADARB1","ADNP","ADSL","AGTPBP1","AIMP1","AIMP2","ALDH18A1","ALG11","ALG14","AMPD2","AP1S2","AP3B2","ARFGEF1","ARID1A","ARID1B","ARID2","ARL13B","ASH1L","ASPA","ASXL3","ATG7","ATN1","ATP10A","ATP1A2","ATP5F1A","ATP6V1A","ATP9A","BCAS3","BCL11B","BLTP1","BMP4","BRAT1","C2CD3","CACNA1B","CACNA1E","CACNA1I","CACNA2D1","CACNA2D2","CAMK2A","CAMK2B","CARS2","CASK","CASZ1","CCDC47","CCDC88A","CCND2","CDC42","CDON","CENPJ","CHAMP1","CHKA","CHMP1A","CLCN3","CLCN4","CLIC2","CLP1","CLPB","CLTC","CNKSR2","CNNM2","CNTNAP2","COG4","COG8","COPB1","CPLX1","CRBN","CREBBP","CSNK2A1","CSPP1","CTNNA2","CUL4B","CYFIP2","DAG1","DALRD3","DARS2","DCPS","DEAF1","DEGS1","DENND5A","DHX30","DISP1","DLL1","DNM1","DNM1L","DOCK3","DOCK7","DOHH","DOLK","DPAGT1","DPF2","DPH5","DPM2","DPYD","DPYSL5","DYRK1A","EARS2","EBP","EEF1A2","EIF2AK2","EIF3F","ELP2","EP300","ERLIN2","EXOSC3","EXOSC5","EXTL3","FARS2","FGF12","FGF13","FGF8","FGFR1","FKRP","FKTN","FOXG1","FOXH1","FOXRED1","FRA10AC1","FRMD4A","FRMPD4","FRRS1L","GABBR2","GABRB2","GABRD","GABRG2","GAMT","GAS1","GEMIN4","GET4","GFM2","GLI2","GMPPB","GNAI1","GNAO1","GNB5","GNS","GOT2","GPT2","GRIA1","GRIA2","GRIA4","GRIK2","GRIN1","GRIN2B","GRIN2D","GRM1","GSX2","H4C11","HCN1","HDAC4","HECW2","HEPACAM","HERC1","HID1","HIKESHI","HIVEP2","HNRNPH1","HNRNPH2","HNRNPK","HNRNPU","HSD17B10","HSPG2","HTT","HUWE1","IARS1","IFIH1","INTS1","INTS8","IQSEC1","IQSEC2","IREB2","IRF2BPL","ISCA2","KARS1","KAT6A","KCNA2","KCNAB2","KCNB1","KCNC2","KCNH1","KCNJ10","KCNQ5","KCTD7","KIAA0586","KIF15","KIF1A","KIF5C","KLHL15","KMT5B","LARGE1","LAS1L","LINGO1","LINS1","LIPT2","LMAN2L","LMNB1","LNPK","LUZP1","MAB21L1","MACF1","MAGEL2","MAST1","MBOAT7","MCOLN1","MDH2","MECP2","MED12","MED25","MEF2C","MFF","MFSD2A","MINPP1","MKS1","MMP23B","MPDU1","MRPL12","MRPS34","MSL3","NACC1","NALCN","NCAPD2","NCAPG2","NEDD4L","NEXMIF","NFIX","NGLY1","NODAL","NR2F1","NSD1","NSRP1","NTNG2","NTRK2","OCA2","ODC1","OPHN1","OTUD6B","PACS1","PARS2","PCGF2","PDPN","PGAP1","PGAP2","PGAP3","PIGA","PIGF","PIGG","PIGN","PIGP","PIGS","PIGV","PIGW","PLCH1","PLK4","PLP1","PMPCB","PNPT1","POGZ","POLR3K","POLRMT","POMT1","POMT2","POT1","PPFIBP1","PPIL1","PPP2R1A","PPP2R5D","PPP3CA","PRDM16","PRKCZ","PRPS1","PRUNE1","PSMB1","PSMC1","PTCH1","PURA","PUS3","PYCR2","RAB11B","RAB18","RAB3GAP2","RAB5IF","RAC1","RALA","RALGAPA1","RARS2","RERE","RHOBTB2","RMND1","RNU7-1","RPL10","SATB1","SATB2","SCN1A","SCN3A","SERAC1","SETBP1","SHH","SHQ1","SHROOM4","SIK1","SIX3","SKI","SLC12A2","SLC12A6","SLC13A5","SLC1A2","SLC1A4","SLC25A12","SLC2A1","SLC33A1","SLC35A2","SLC35B2","SLC38A3","SLC39A14","SLC6A17","SLC6A3","SLC9A6","SLITRK2","SMARCA2","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SMC1A","SMS","SNRPN","SNX14","SOD1","SOX11","SOX4","SPATA5","SPEN","SPTBN1","SPTBN4","SRCAP","ST3GAL5","STAG2","STIL","STRADA","STXBP1","SUOX","SUPT16H","SYNGAP1","SYT1","SZT2","TAF2","TANGO2","TBC1D20","TBCD","TBCE","TBL1XR1","TCF4","TCTN2","TDGF1","TELO2","TFE3","TGIF1","TIMM50","TKT","TMCO1","TMEM106B","TMEM147","TMEM231","TMTC3","TNPO2","TOE1","TOGARAM1","TOR1A","TRAPPC10","TRAPPC11","TRAPPC2L","TRAPPC6B","TREX1","TRIM8","TRIO","TRIT1","TRPM3","TRPV6","TRRAP","TTC5","TUBA8","TUBB2A","UBA5","UBE2A","UBE3A","UBE3B","UBE4B","UBTF","UFC1","UFM1","UFSP2","UGP2","UNC80","UQCRQ","USP27X","USP7","VARS1","VPS11","VPS33A","VPS41","VPS4A","WAC","WARS1","WARS2","WDR26","WDR37","WDR4","WDR45","WDR45B","YME1L1","YY1","ZBTB18","ZC4H2","ZEB2","ZIC2","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PSYCHOTIC_MENTATION":{"collection":"C5:HPO","systematicName":"M35245","pmid":"","exactSource":"HP:0001345","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001345","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PSYCHOTIC_MENTATION","geneSymbols":["AIP","ALDH4A1","CABP4","CHRNA2","CHRNA4","CHRNB2","CRH","DEPDC5","FIG4","FRRS1L","GRIN2A","GSS","KCNT1","MT-CO1","MT-CO2","MT-CO3","MT-ND1","MT-ND4","MT-ND5","MT-ND6","MT-TF","MT-TH","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TW","MTHFR","USP8"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPERREFLEXIA":{"collection":"C5:HPO","systematicName":"M35246","pmid":"","exactSource":"HP:0001347","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001347","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERREFLEXIA","geneSymbols":["AAAS","AARS1","AARS2","AASS","ABAT","ABCA4","ABCB7","ABCC8","ABCC9","ABCD1","ABHD12","ABHD16A","ACOX1","ACSL4","ACTA1","ADAR","ADCY5","ADGRG1","ADSL","AFG3L2","AGBL5","AGTPBP1","AHI1","AHR","AIFM1","AIMP2","ALDH18A1","ALG11","ALG2","ALG3","ALG9","ALS2","AMACR","AMFR","AMPD2","AMT","ANKLE2","ANO10","AP1S2","AP4B1","AP4E1","AP4M1","AP4S1","AP5Z1","APOE","ARHGEF18","ARL2BP","ARL3","ARL6","ARL6IP1","ARSA","ARX","ASNS","ASPA","ASPM","ATAD1","ATG5","ATL1","ATP13A2","ATP1A2","ATP1A3","ATP5MC3","ATP5MK","ATP6AP2","ATP6V1A","ATP8A2","ATRX","ATXN1","ATXN10","ATXN2","ATXN3","ATXN7","ATXN8OS","AUH","AUTS2","B4GALNT1","BAZ1B","BBS1","BBS2","BCAS3","BCAT2","BCL7B","BCS1L","BEAN1","BEST1","BICD2","BRAT1","BRCA1","BRCA2","BRIP1","BSCL2","BUD23","C19orf12","C4A","CA4","CA8","CACNA1A","CACNA1E","CACNA1G","CADM3","CAMLG","CAMSAP1","CAMTA1","CAPN1","CARS1","CASK","CAV1","CC2D2A","CCDC47","CCDC88A","CCDC88C","CCR1","CCT5","CD40LG","CDC40","CDHR1","CDK5RAP2","CDK6","CENPE","CENPJ","CEP135","CEP152","CEP63","CERKL","CFAP418","CHCHD2","CHKA","CHMP1A","CHMP2B","CHP1","CIT","CLDN11","CLIP2","CLN5","CLP1","CLPB","CLRN1","CLTRN","CNGA1","CNGB1","CNP","CNTNAP1","COG4","COG5","COPB2","COQ2","COQ5","COQ8A","COQ9","COX10","COX11","COX4I1","COX5A","CPT1C","CRAT","CRB1","CREBBP","CRX","CSF1R","CTNNA2","CTSF","CWF19L1","CYFIP2","CYP27A1","CYP2U1","CYP7B1","DARS1","DARS2","DCC","DCTN1","DDC","DDHD1","DDHD2","DENND5A","DGUOK","DHDDS","DHX38","DKK1","DLAT","DNAJC30","DNAJC6","DNM1","DNM1L","DNMT1","DPAGT1","DPM1","DPYD","DSTYK","DTYMK","DYM","DYNC1I2","EEF2","EIF2S3","EIF4H","ELN","ELOVL1","ELOVL4","ELP2","EMILIN1","EP300","ERAP1","ERCC1","ERCC2","ERCC3","ERCC4","ERCC6","ERCC8","ERLIN1","ERLIN2","EXOC8","EXOSC3","EXOSC5","EXOSC8","EXOSC9","EXTL3","EYA1","EYS","FA2H","FAM161A","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FAR1","FARS2","FAS","FBLN5","FBXO7","FDX2","FGF13","FKBP6","FKRP","FLRT1","FRMPD4","FSCN2","FTL","FUCA1","FUS","FZR1","GAD1","GALC","GAMT","GAN","GARS1","GBA1","GBA2","GCH1","GCLC","GDAP2","GEMIN5","GFAP","GFM1","GFM2","GGT1","GJA1","GJB1","GJC2","GLB1","GLDC","GLE1","GLRA1","GLRB","GLRX5","GLUL","GLYCTK","GM2A","GMPPA","GMPPB","GNAQ","GNB1","GNB2","GNS","GOLGA2","GPAA1","GPHN","GPT2","GRIA3","GRID2","GRIN1","GRM1","GRM7","GRN","GTF2E2","GTF2H5","GTF2I","GTF2IRD1","GTF2IRD2","GTPBP2","GUCA1B","H4C5","HARS1","HECTD4","HEXB","HGSNAT","HIBCH","HIKESHI","HLA-B","HPDL","HPRT1","HRAS","HSPD1","HTRA1","HTRA2","HTT","HUWE1","HYCC1","IBA57","IDH3A","IDH3B","IER3IP1","IFNGR1","IFRD1","IFT140","IFT172","IFT88","IL10","IL12A","IL12A-AS1","IL23R","IMPDH1","IMPDH2","IMPG1","IMPG2","INPP5E","IREB2","IRF2BPL","ISCA1","ISCA2","ITPR1","JAM2","JAM3","JPH3","KARS1","KATNB1","KCNA1","KCNC3","KCND3","KCNJ18","KCNJ6","KCNK4","KCNMA1","KCNQ2","KCNQ3","KCNT1","KDM1A","KDM5C","KIAA1549","KIDINS220","KIF14","KIF1A","KIF1C","KIF5A","KIZ","KLC2","KLHL7","KLRC4","KNL1","KPNA3","KRAS","KY","L1CAM","LARGE1","LBR","LETM1","LIMK1","LMNB1","LRAT","LRRK2","LYRM4","LYRM7","MAB21L1","MAD2L2","MAG","MAK","MAN2B1","MAPT","MARS1","MARS2","MAT1A","MATR3","MBOAT7","MCCC1","MCCC2","MCM7","MCOLN1","MCPH1","MECP2","MECR","MED17","MEFV","MERTK","METTL27","METTL5","MFF","MFN2","MFSD2A","MICOS13","MICU1","MINPP1","MKS1","MLXIPL","MMAA","MORC2","MPLKIP","MRE11","MRPS25","MRPS34","MSL3","MSTN","MT-ATP6","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND5","MT-ND6","MT-TE","MT-TK","MT-TL1","MT-TL2","MT-TN","MT-TS1","MT-TV","MT-TW","MTPAP","MTRFR","MYL2","MYORG","NAA10","NAA20","NADK2","NAGA","NALCN","NARS1","NARS2","NCAPD3","NCF1","NDE1","NDP","NDUFA4","NDUFAF3","NDUFAF4","NDUFS1","NDUFS2","NDUFS4","NDUFS7","NDUFS8","NEFH","NEK1","NEK2","NEU1","NFASC","NFIX","NIPA1","NKX6-2","NONO","NOP56","NOTCH2NLC","NR2E3","NR4A2","NRAS","NRCAM","NRL","NSD1","NSRP1","NSUN2","NT5C2","NTRK2","NUBPL","NUP214","NUP37","NUP54","NUP62","OCA2","OCLN","OCRL","OFD1","OPA1","OPA3","OSTM1","PAH","PAK3","PALB2","PANK2","PARK7","PARS2","PAX1","PC","PCARE","PCDH12","PCLO","PCYT2","PDE6A","PDE6B","PDE6G","PDE8B","PDGFB","PDGFRB","PDYN","PET100","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PGAP1","PGM3","PHC1","PI4KA","PIGA","PIGN","PIGP","PIGT","PINK1","PITRM1","PKDCC","PLA2G6","PLCB1","PLP1","PLXNA1","PMM2","PMP22","PMPCA","PNPLA6","PODXL","POLR3A","POLR3B","POMGNT1","POMK","POMT1","POMT2","POU3F4","POU4F1","PPIL1","PPOX","PPP1R15B","PPP2R2B","PQBP1","PRCD","PRDM13","PRDM8","PRKCG","PRKN","PRKRA","PRNP","PROM1","PRPF3","PRPF31","PRPF4","PRPF6","PRPF8","PRPH","PRPH2","PRPS1","PRR12","PRRT2","PRSS12","PRUNE1","PSAP","PSAT1","PSEN1","PTS","PUS3","PYCR2","QARS1","RAB18","RAB3GAP1","RAB3GAP2","RAD51","RAD51C","RARS1","RARS2","RBP3","RDH12","REEP1","REEP2","REEP6","REPS1","RFC2","RFT1","RFWD3","RFX7","RGR","RHO","RLBP1","RLIM","RNASEH1","RNASEH2C","RNF113A","RNF170","RNF2","RNF220","ROM1","RP1","RP1L1","RP2","RP9","RPE65","RPGR","RPGRIP1L","RTN2","RUBCN","RUSC2","SACS","SAG","SAMD9L","SARS1","SASS6","SCAPER","SCN1A","SCYL1","SDHA","SDHAF1","SDHB","SDHD","SEC31A","SELENOI","SEMA4A","SEMA6B","SEPSECS","SET","SETX","SHMT2","SIGMAR1","SIK1","SLC12A2","SLC16A2","SLC18A2","SLC19A3","SLC1A3","SLC1A4","SLC20A2","SLC25A12","SLC25A15","SLC25A21","SLC25A22","SLC25A46","SLC29A3","SLC2A1","SLC2A3","SLC31A1","SLC33A1","SLC35C1","SLC38A3","SLC39A14","SLC39A8","SLC44A1","SLC46A1","SLC52A3","SLC6A19","SLC6A5","SLC6A9","SLC7A14","SLC9A7","SLX4","SMC5","SMG9","SNCA","SNRNP200","SNRPN","SOD1","SPART","SPAST","SPATA7","SPG11","SPG21","SPG7","SPR","SPTAN1","SPTBN1","SPTBN2","SPTLC1","SPTLC2","SQSTM1","SRPX2","ST3GAL5","STAT4","STIL","STUB1","STX1A","SUMF1","SURF1","SYNE1","SYNJ1","TAF1","TAF13","TAF2","TANGO2","TARS1","TBCD","TBK1","TBL2","TBX4","TCEAL1","TCTN2","TFG","TGM6","TH","TICAM1","TIMM50","TIMM8A","TLR3","TLR4","TMEM106B","TMEM270","TMEM63C","TMEM67","TMX2","TNR","TOE1","TOPORS","TOR1A","TPP1","TRAF3","TRAK1","TRAPPC10","TRAPPC11","TRAPPC14","TRAPPC6B","TREM2","TREX1","TRIO","TRMT10A","TRMT5","TRRAP","TSEN15","TSEN2","TSPOAP1","TTBK2","TTC19","TTC8","TTR","TUB","TUBB2B","TUBGCP2","TULP1","UBAC2","UBAP1","UBE2T","UBE3A","UCHL1","UFC1","UGDH","UGP2","UNC93B1","UQCRQ","UROC1","USH2A","USP8","VAC14","VAMP1","VCP","VLDLR","VPS11","VPS13C","VPS13D","VPS37A","VPS37D","VRK1","VWA3B","WARS1","WARS2","WASHC5","WDR4","WDR62","WDR73","WDR81","WLS","WWOX","XRCC2","ZC4H2","ZEB2","ZFR","ZFYVE26","ZFYVE27","ZNF142","ZNF408","ZNF513","ZNHIT3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BRISK_REFLEXES":{"collection":"C5:HPO","systematicName":"M35247","pmid":"","exactSource":"HP:0001348","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001348","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BRISK_REFLEXES","geneSymbols":["AASS","ADSL","ALDH18A1","ALS2","ANO10","ATG5","ATP13A2","BCAT2","BSCL2","CADM3","CAMTA1","CARS1","CDC40","CHMP1A","CNP","COG5","COQ5","COQ8A","COX10","COX11","COX5A","DARS1","DLAT","ELN","ELOVL1","ERCC1","EXOSC9","FBLN5","FTL","FUCA1","FUS","GBA2","GCH1","GDAP2","GEMIN5","GLE1","GLYCTK","GNS","GRM1","GTPBP2","H4C5","HARS1","IER3IP1","IMPDH2","JAM2","KCNMA1","LETM1","LYRM7","MMAA","MRPS25","MSTN","MT-TL1","MT-TL2","MT-TN","MT-TS1","NDUFA4","NDUFS8","NFIX","NR4A2","PAK3","PARK7","PDE8B","PEX16","PEX19","PIGA","PITRM1","PKDCC","PLA2G6","PMPCA","POU4F1","PPIL1","PPP1R15B","PRR12","REEP1","REPS1","RNASEH1","RNF170","SCN1A","SET","SIGMAR1","SLC16A2","SLC1A4","SLC39A14","SLC52A3","SLC6A5","SLC9A7","SMC5","SMG9","SPAST","SPG11","SPTBN1","SPTLC1","SURF1","TBCD","TH","TMEM106B","TRMT10A","TSPOAP1","TUBGCP2","VCP","VRK1","WDR4","WDR62"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FACIAL_DIPLEGIA":{"collection":"C5:HPO","systematicName":"M35248","pmid":"","exactSource":"HP:0001349","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001349","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FACIAL_DIPLEGIA","geneSymbols":["ABCA1","ACTA1","ADCY6","ADGRG1","BIN1","CFL2","CNTNAP1","COL25A1","CRPPA","CRYAB","DMPK","FKRP","FKTN","GLE1","KBTBD13","KLHL40","KLHL41","LMOD3","MPZ","MTRFR","MYPN","NEB","PI4KA","POLG","POLG2","POMT1","RRM2B","RYR1","SCO2","SHMT2","SLC12A6","SLC25A4","SLC52A3","SOST","SPEG","SRPX2","SUCLA2","TK2","TPM2","TPM3","TTN","TWNK","VCP","YME1L1","ZFHX4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SLURRED_SPEECH":{"collection":"C5:HPO","systematicName":"M35249","pmid":"","exactSource":"HP:0001350","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001350","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SLURRED_SPEECH","geneSymbols":["ABCD1","ACOX2","ANO10","ATM","ATP6AP2","ATP6V0A2","ATXN1","CA8","CACNA1A","CHD8","CTSH","CWF19L1","DARS2","DNAJC6","DPP9","EZH2","FASTKD2","FOXG1","GALC","GLB1","GRIN2A","HCRT","HLA-DQB1","HLA-DRB1","ITPR1","KCNA1","KCND3","KCNQ2","LINGO1","MAPT","MOG","MT-TK","MYORG","NEU1","P2RY11","PDE8B","PIDD1","PODXL","POLG","PRNP","SCN2A","SETD2","SLC1A3","SPART","SPG7","SPTBN2","SUPT16H","SYNJ1","TBC1D2B","TNFSF4","TRANK1","VPS13A","ZNF365"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MEGALENCEPHALY":{"collection":"C5:HPO","systematicName":"M35250","pmid":"","exactSource":"HP:0001355","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001355","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MEGALENCEPHALY","geneSymbols":["AKT3","ASPA","CCND2","CDON","CRADD","DEPDC5","DISP1","DLL1","EIF2B5","FGF8","FGFR2","FGFR3","FOXH1","GAS1","GLI2","HEPACAM","HERC1","HRAS","IFNG","KRAS","MLC1","MTOR","NODAL","NPRL2","NPRL3","NRAS","PIK3CA","PIK3R2","PTCH1","PTEN","RAB39B","SHH","SIX3","SMO","SMS","STIL","STRADA","TBC1D7","TDGF1","TGIF1","TSC1","TSC2","ZIC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PLAGIOCEPHALY":{"collection":"C5:HPO","systematicName":"M35251","pmid":"","exactSource":"HP:0001357","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001357","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PLAGIOCEPHALY","geneSymbols":["ADAR","ADARB1","ADAT3","ADNP","AFF4","AGO2","ALG12","ALX4","ANTXR1","ARID1B","ARID2","ARX","ATP2B1","ATP6V1B2","B3GALT6","BLTP1","BMP4","CA2","CACNA2D1","CAMK2A","CASK","CBFB","CCDC47","CDC42BPB","CDK13","CHAMP1","CHN1","CHSY1","CLCN3","CNOT3","COL11A1","COL11A2","COL25A1","CUX1","CYFIP2","DHX37","DLK1","DPYS","DPYSL5","DYNC1H1","EFNB1","EHMT1","EIF5A","EMC10","EML1","ERGIC1","ERMARD","FAM20C","FBXL4","FBXO11","FGFR2","FGFR3","FKTN","FOCAD","FOXP2","GRIA1","H3-3A","H3-3B","HEPHL1","HERC2","HNRNPH1","HNRNPK","HRAS","IFIH1","INPP5E","KAT6A","KIDINS220","KIF21A","KMT2C","KRAS","LMX1B","LSM11","MADD","MAF","MAFB","MAPK1","MBTPS2","MED12","MED13L","MEG3","MESD","MN1","MYMK","NALCN","NEPRO","NFIX","NLGN4X","NONO","NRAS","NRCAM","PCGF2","PGAP2","PGAP3","PHF21A","PHOX2A","PIGA","PIGL","PIGO","PIGQ","PIGV","PIGW","PIGY","PKDCC","POLR2A","PPP1R21","PPP2CA","PPP2R1A","PPP2R5D","PPP3CA","PRKAR1B","PRUNE1","RAC1","RAC3","RFX7","RNASEH2A","RNASEH2B","RNASEH2C","RNU12","RNU7-1","ROBO3","RTL1","SALL4","SAMHD1","SCYL2","SET","SLC26A2","SMARCA2","SMC3","SPTBN1","STXBP1","SUPT16H","TBC1D24","TBCD","TCF12","TCF20","TP53RK","TREX1","TRPM3","TUBA1A","TUBB2B","TUBB3","TWIST1","UGDH","UNC80","USP7","WBP11","WDR35","ZBTB20","ZIC1","ZNF292","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HOLOPROSENCEPHALY":{"collection":"C5:HPO","systematicName":"M35252","pmid":"","exactSource":"HP:0001360","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001360","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HOLOPROSENCEPHALY","geneSymbols":["B3GALNT2","B9D1","B9D2","BUB1","BUB1B","BUB3","C2CD3","CC2D2A","CDON","CEP290","CEP57","CHD7","CILK1","CNOT1","CRPPA","CSPP1","DHCR7","DISP1","DLL1","FGF8","FGFR1","FGFR3","FKRP","FKTN","FOXA2","FOXH1","GAS1","GLI2","GLI3","GMPPB","GPKOW","HESX1","HOXA2","L1CAM","LARGE1","LHX4","MKS1","MTHFR","NODAL","OTX2","PLCH1","POMGNT1","POMT1","POMT2","POU1F1","PPP1R12A","PROP1","PRRX1","PTCH1","RAD21","RB1","RPGRIP1","RPGRIP1L","RTTN","SALL1","SEC31A","SEMA3E","SHH","SIX3","SMC1A","SOX2","STAG2","SUFU","TCTN1","TCTN2","TCTN3","TDGF1","TGIF1","TMEM107","TMEM216","TMEM231","TMEM237","TMEM67","TRIP13","TXNDC15","VANGL2","WDR81","ZIC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NYSTAGMUS_INDUCED_HEAD_NODDING":{"collection":"C5:HPO","systematicName":"M35253","pmid":"","exactSource":"HP:0001361","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001361","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NYSTAGMUS_INDUCED_HEAD_NODDING","geneSymbols":["BAZ1B","BCL7B","BUD23","CLIP2","DNAJC30","EIF4H","ELN","FKBP6","GPR143","GTF2I","GTF2IRD1","GTF2IRD2","LIMK1","METTL27","MLXIPL","NCF1","RFC2","STX1A","TBL2","TMEM270","VPS37D"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CALVARIAL_SKULL_DEFECT":{"collection":"C5:HPO","systematicName":"M35254","pmid":"","exactSource":"HP:0001362","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001362","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CALVARIAL_SKULL_DEFECT","geneSymbols":["ALX4","ARHGAP31","BMS1","COL18A1","CPLX1","CTBP1","DLL4","DOCK6","EOGT","FRAS1","FREM2","GRIP1","HSPG2","ITGB4","KCTD1","LBR","LETM1","NELFA","NOTCH1","NSD2","PAK2","PIGG","PLEC","RBPJ","UBA2","UBR1","WNT7A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CRANIOSYNOSTOSIS":{"collection":"C5:HPO","systematicName":"M35255","pmid":"","exactSource":"HP:0001363","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001363","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CRANIOSYNOSTOSIS","geneSymbols":["AARS1","AASS","ADAMTS3","AHDC1","AKT1","ALPL","ALX4","APC2","ARVCF","ATP6V1B2","ATR","ATRIP","B3GALT6","B3GAT3","B3GLCT","B4GALT7","BMP4","BPNT2","CARS1","CCBE1","CCNQ","CDC45","CDC6","CDH11","CDKN1C","CDT1","CENPE","CENPJ","CEP120","CEP152","CEP57","CHD5","CHST14","CHST3","CLCN7","COLEC10","COLEC11","COMT","CTCF","CTSK","CWC27","CYP26B1","DMP1","DNA2","DNMT3A","DONSON","DPF2","DPH1","DPH2","DSE","EFNB1","ENPP1","ERCC2","ERCC3","ERF","ESCO2","EXOC8","EXTL3","FAT4","FBN1","FGFR1","FGFR2","FGFR3","FLNA","FLNB","GLI3","GLIS3","GMNN","GNPTAB","GP1BB","GPC6","GTF2E2","GTF2H5","H4C9","HIRA","HNRNPK","HUWE1","IFT122","IFT140","IFT43","IFT52","IL11RA","IL6ST","IPO8","IRX5","JMJD1C","KANSL1","KAT6A","KPTN","KRAS","KRT14","KRT5","LIG4","LRP5","LTBP1","MAF","MAN2B1","MAP3K7","MASP1","MED12","MEGF8","MID1","MPLKIP","MSX2","MYH3","NFIA","NFIX","NSD1","NSUN2","NUP85","ORC1","ORC4","ORC6","OTUD5","P4HB","PCNT","PHEX","PIGO","PIGT","PLK4","POLA1","POR","PPP1CB","PPP3CA","PRIM1","PSAT1","PTEN","RAB23","RAC3","RBBP8","RECQL4","RNF113A","RNU12","RREB1","RSPRY1","RTTN","SCARF2","SCUBE3","SEC24C","SEC24D","SETD1A","SETD2","SH2B1","SKI","SLC12A6","SLC25A24","SLC2A10","SLC35A2","SLC39A8","SMAD3","SMAD6","SMO","SNX10","SON","SPECC1L","STAT3","TANC2","TARS1","TBC1D24","TBX1","TCF12","TCIRG1","TGFBR1","TGFBR2","TLK2","TMCO1","TNFSF11","TRAIP","TWIST1","UFD1","WDR19","WDR35","YY1","ZEB2","ZIC1","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_JOINT_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M35256","pmid":"","exactSource":"HP:0001367","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001367","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_JOINT_MORPHOLOGY","geneSymbols":["AARS1","ABCC6","ABCC9","ABCD1","ABCG8","ACAN","ACP5","ACTA1","ACTB","ACTG1","ACTG2","ACVR1","ADA2","ADAMTS2","ADAMTS3","ADAMTSL2","ADAR","ADAT3","ADGRG1","ADGRG6","ADGRV1","ADNP","AEBP1","AFF3","AFF4","AGA","AGRN","AIFM1","AIP","AKT1","ALAD","ALDH18A1","ALG12","ALG14","ALG2","ALG3","ALG9","ALPK3","ALPL","ALX1","ALX3","AMER1","ANAPC1","ANGPT2","ANK1","ANKH","ANKLE2","ANKRD11","ANKRD55","ANO10","ANO5","ANTXR2","AP1S3","AP2S1","AP3B1","AP4B1","AP4E1","AP4M1","AP4S1","APC","APC2","APOE","ARF1","ARFGEF2","ARID1B","ARL6IP1","ARNT2","ARPC4","ARSB","ARSK","ARSL","ARVCF","ASAH1","ASH1L","ASPH","ASPN","ASXL1","ASXL2","ASXL3","ATAD1","ATL1","ATL3","ATP5F1D","ATP6AP2","ATP6V0A2","ATP6V1A","ATP6V1E1","ATP7A","ATP7B","ATR","ATRX","AUTS2","B3GALT6","B3GAT3","B3GLCT","B4GALT7","BAG3","BANF1","BANK1","BAZ1B","BCL7B","BCOR","BCR","BGN","BHLHA9","BICD2","BICRA","BIN1","BLK","BLNK","BMP1","BMP2","BMP6","BMPER","BMPR1B","BPNT2","BPTF","BRAF","BRCA1","BRCA2","BRD4","BRF1","BRIP1","BRPF1","BTK","BTNL2","BUD23","C12orf57","C18orf32","C19orf12","C1QB","C1R","C1S","C2orf69","C4A","C4B","CADM3","CAMK2A","CANT1","CAPN1","CAPN3","CARS1","CASP10","CASZ1","CAV1","CBFB","CBL","CBS","CCBE1","CCDC22","CCDC47","CCDC8","CCDC88C","CCN2","CCN6","CCR1","CCR6","CD244","CD247","CD40LG","CD79A","CD79B","CD96","CDC45","CDC6","CDC73","CDH11","CDH3","CDON","CDT1","CENPJ","CENPT","CEP120","CEP85L","CFI","CFL2","CHAT","CHD4","CHD7","CHEK2","CHMP1A","CHN1","CHRM3","CHRNA1","CHRNB1","CHRND","CHRNG","CHST11","CHST14","CHST3","CHSY1","CHUK","CIITA","CLCF1","CLCN3","CLCN5","CLCN7","CLCNKB","CLIP2","CLTCL1","CNTN1","CNTNAP1","COG1","COG4","COG5","COL10A1","COL11A1","COL11A2","COL12A1","COL13A1","COL1A1","COL1A2","COL25A1","COL27A1","COL2A1","COL3A1","COL5A1","COL5A2","COL6A1","COL6A2","COL6A3","COL7A1","COL9A1","COL9A2","COL9A3","COLEC10","COLEC11","COLQ","COMP","COMT","COPA","COX11","COX8A","CPLX1","CPT2","CR2","CREBBP","CRKL","CRLF1","CRTAP","CSGALNACT1","CSPP1","CTBP1","CTC1","CTCF","CTDP1","CTLA4","CTNS","CUL4B","CUL7","CYP19A1","CYP26B1","CYP27A1","CYP27B1","CYP2R1","CYP3A4","CYP7B1","DAG1","DCC","DCHS1","DCLRE1C","DDB2","DDR2","DDRGK1","DHCR24","DHCR7","DHODH","DHX16","DISP1","DKC1","DKK1","DLK1","DLL1","DLL3","DMD","DMP1","DNAJB11","DNAJC21","DNAJC30","DNAL4","DNASE1","DNASE1L3","DNASE2","DNMT3A","DOK7","DONSON","DPAGT1","DPM1","DPYSL5","DSE","DSTYK","DVL1","DVL3","DYM","DYNC2H1","DYNC2I1","DYNC2LI1","DYNLT2B","DYRK1A","DYSF","EBP","ECE1","ECEL1","EED","EFEMP2","EFL1","EFNB1","EIF2AK3","EIF4A3","EIF4H","ELF4","ELN","ELP1","EMD","EMG1","EMILIN1","ENPP1","EP300","EPB42","EPCAM","ERAP1","ERCC1","ERCC2","ERCC3","ERCC4","ERCC5","ERCC6","ERCC8","ERGIC1","ERLIN1","ERLIN2","ERMARD","ESCO2","ETS1","EVC","EVC2","EXOC6B","EXOSC3","EXT1","EXT2","EXTL3","EYA1","EZH2","F10","F11","F13A1","F13B","F2","F5","F7","F8","F9","FA2H","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FAS","FASLG","FAT4","FBLN1","FBLN5","FBN1","FBN2","FBXL3","FBXO28","FBXW11","FCGR2A","FCGR2B","FCGR3B","FDFT1","FERMT1","FGA","FGB","FGD1","FGF10","FGF13","FGF16","FGF8","FGF9","FGFR1","FGFR2","FGFR3","FGFRL1","FGG","FHL1","FIG4","FKBP10","FKBP6","FKRP","FKTN","FLI1","FLNA","FLNB","FLNC","FLT4","FLVCR1","FLVCR2","FN1","FOXH1","FOXP3","FRZB","FUT8","FUZ","FXYD2","FZD2","G6PC1","GABRA1","GABRD","GABRG2","GALC","GALNS","GAN","GARS1","GAS1","GATA1","GBA1","GBA2","GCDH","GCH1","GCM2","GDAP1","GDF3","GDF5","GDF6","GEMIN4","GET4","GFM2","GFPT1","GGCX","GHR","GJA1","GJB2","GJB6","GJC2","GLA","GLB1","GLDN","GLE1","GLI1","GLI2","GLI3","GLRA1","GLRB","GMNN","GMPPB","GNA11","GNAS","GNB1","GNB2","GNE","GNPTAB","GNPTG","GNS","GON7","GORAB","GP1BB","GPC3","GPC4","GPC6","GPHN","GPKOW","GPR101","GPX4","GRB10","GRIA3","GSC","GTF2E2","GTF2H5","GTF2I","GTF2IRD1","GTF2IRD2","GUSB","GZF1","H3-3B","H4C9","HACD1","HACE1","HAMP","HBB","HCN1","HDAC4","HDAC8","HEATR3","HEPHL1","HERC2","HES7","HFE","HGD","HINT1","HIRA","HJV","HK1","HLA-B","HLA-C","HLA-DRB1","HNF1B","HNRNPA1","HNRNPH1","HOXA11","HOXA13","HOXD10","HOXD13","HPGD","HPRT1","HRAS","HS2ST1","HS6ST1","HSPB1","HSPG2","HTT","HYAL1","IARS2","IDH1","IDS","IDUA","IFIH1","IFITM5","IFNGR1","IFT172","IFT52","IFT57","IGF2","IGHG1","IGHG2","IGHM","IGHMBP2","IGKC","IGLL1","IHH","IKBKG","IL10","IL12A","IL12A-AS1","IL12B","IL1RN","IL23R","IL2RA","IL2RB","IL36RN","IL6","IL6ST","IMPDH2","INF2","INPP5K","INPPL1","IPO8","IRAK1","IRF4","IRF5","IRF6","IRX5","ITCH","ITGA6","ITGA7","ITGAM","ITGB4","JAG2","JARID2","JAZF1","JMJD1C","KANSL1","KAT6A","KAT6B","KCNAB2","KCNJ1","KCNK9","KDM5B","KDM5C","KDM6A","KIAA0319L","KIAA0586","KIAA0753","KIDINS220","KIF14","KIF1A","KIF1C","KIF21A","KIF22","KIF5A","KIF7","KLC2","KLHL41","KLHL9","KLRC4","KMT2A","KMT2B","KMT2D","KNSTRN","KPNA3","KRAS","KRT1","KRT14","KRT16","KRT5","KRT9","KY","L1CAM","LACC1","LAGE3","LAMA2","LAMA5","LAMB2","LAMB3","LARGE1","LARS2","LBR","LEMD3","LETM1","LFNG","LGI4","LIFR","LIMK1","LMAN1","LMBR1","LMBRD2","LMNA","LMNB2","LMOD3","LMX1B","LONP1","LPIN2","LRBA","LRP4","LRP6","LRRC8A","LSM11","LTBP1","LTBP3","LUZP1","LYSET","LZTR1","MAB21L2","MACF1","MACROH2A1","MAD2L2","MADD","MAF","MAFB","MAGEL2","MAN2B1","MAN2C1","MAP1B","MAP2K1","MAP2K2","MAP3K20","MAP3K7","MAPK1","MAPK8IP3","MARS1","MASP1","MATN3","MBTPS1","MBTPS2","MCFD2","MCOLN1","MCTP2","MECOM","MECP2","MED12","MED25","MEFV","MEG3","MEGF10","MEGF8","MEN1","MEOX1","MESP2","MET","METTL27","MFN2","MIA3","MIF","MIR140","MKKS","MKRN3","MKS1","MLX","MLXIPL","MMP13","MMP14","MMP2","MMP23B","MMP9","MORC2","MPLKIP","MPZ","MRAS","MTHFD1","MTX2","MUC1","MUSK","MVK","MYBPC1","MYD88","MYH14","MYH3","MYH8","MYL1","MYL11","MYL2","MYO18B","MYO9A","MYOD1","MYOT","NAA10","NADSYN1","NAE1","NALCN","NANS","NCF1","NDRG1","NDUFAF6","NDUFS8","NEB","NEDD4L","NEFL","NEPRO","NF1","NFATC2","NFIX","NFKBIL1","NGF","NGLY1","NHP2","NIN","NIPA1","NIPBL","NKX3-2","NLRP1","NLRP12","NLRP3","NOD2","NODAL","NOG","NONO","NOP10","NOTCH2","NOTCH3","NPAP1","NPR2","NR4A2","NRAS","NRCAM","NSD1","NSD2","NSDHL","NT5C2","NTN1","NTRK1","NUP107","NUP133","NUP88","NXN","OBSL1","OCA2","OCRL","OFD1","OPA3","ORAI1","ORC1","ORC4","ORC6","OSGEP","OSTM1","OTULIN","P4HA2","P4HTM","PAFAH1B1","PALB2","PAM16","PAX3","PCDH19","PCNT","PDCD1","PDE4D","PDGFRB","PDPN","PDXK","PEPD","PERCC1","PEX1","PEX16","PEX2","PEX5","PEX6","PFKM","PHEX","PHGDH","PI4KA","PIEZO1","PIEZO2","PIGA","PIGL","PIGT","PIGV","PIGY","PIK3C2A","PIK3CD","PIK3R1","PIK3R2","PITX1","PKDCC","PLA2G6","PLAU","PLCH1","PLEC","PLEKHG5","PLOD1","PLOD2","PLOD3","PMP22","PNPT1","POFUT1","POGLUT1","POLR1A","POLR1D","POLR3A","POLR3B","POLR3GL","POLRMT","POMT1","POMT2","POP1","POR","PORCN","POU3F4","PPP1CB","PPP2R3C","PPP2R5D","PQBP1","PRDM16","PRG4","PRKACA","PRKACB","PRKAR1A","PRKCD","PRKCZ","PRKG2","PRMT7","PRPS1","PRR12","PSAP","PSAT1","PSENEN","PSMB4","PSMB8","PSMB9","PSMD12","PSTPIP1","PTCH1","PTCH2","PTDSS1","PTEN","PTH1R","PTPN11","PTPN2","PTPN22","PTRH2","PUF60","PUS3","PWAR1","PWRN1","PXK","PYCR1","PYCR2","PYROXD1","RAB18","RAB23","RAB33B","RAB3GAP1","RAB3GAP2","RAC3","RAD21","RAD51","RAD51C","RAF1","RAG1","RAG2","RAPSN","RASA2","RASGRP1","RB1","RBM8A","RECQL4","REEP1","RERE","RETREG1","RFC2","RFWD3","RIGI","RINT1","RIPK4","RIPPLY2","RIT1","RMRP","RNASEH2A","RNASEH2B","RNASEH2C","RNF113A","RNF168","RNU12","RNU4ATAC","RNU7-1","ROR2","RPGRIP1L","RPL10","RPL13","RPL26","RPS15A","RRAS","RRAS2","RREB1","RSPO2","RSPRY1","RTL1","RTN2","RTTN","RUNX2","RYR1","RYR3","SALL1","SALL4","SAMD9L","SAMHD1","SAT1","SATB2","SBDS","SCARB2","SCARF2","SCN1A","SCN1B","SCN2A","SCN4A","SCN9A","SCYL2","SDHA","SDHAF1","SDHB","SDHD","SEC24C","SEC31A","SEC61A1","SELENOI","SELENON","SERPINE1","SERPINF1","SERPINF2","SERPINH1","SETBP1","SETD2","SF3B2","SF3B4","SFRP4","SGCA","SH3KBP1","SH3PXD2B","SHH","SHOC2","SHOX","SHROOM4","SIGMAR1","SIK3","SIL1","SIN3A","SIX1","SIX3","SIX6","SKI","SLC10A7","SLC12A1","SLC12A2","SLC12A3","SLC16A2","SLC18A3","SLC1A4","SLC22A4","SLC25A1","SLC25A46","SLC26A2","SLC29A3","SLC2A10","SLC34A2","SLC34A3","SLC35A2","SLC35A3","SLC35B2","SLC35D1","SLC37A4","SLC39A13","SLC39A14","SLC39A7","SLC39A8","SLC40A1","SLC4A1","SLC52A3","SLC5A7","SLC6A5","SLC6A9","SLCO2A1","SLX4","SMAD2","SMAD3","SMAD4","SMAD6","SMARCA2","SMARCAD1","SMARCAL1","SMC1A","SMC3","SMG9","SMO","SMOC1","SNAP25","SNORD115-1","SNORD116-1","SNRPB","SOD1","SOS1","SOS2","SOX2","SOX5","SOX9","SPARC","SPART","SPAST","SPEG","SPEN","SPG11","SPI1","SPP1","SPRED2","SPRTN","SPTA1","SPTB","SPTBN1","SPTBN2","SPTBN4","SPTLC1","SPTLC2","SRCAP","SRD5A3","SRP54","SRY","SSR4","STAG1","STAG2","STAT3","STAT4","STIL","STT3A","STUB1","STX1A","STX1B","STXBP1","SUFU","SUZ12","SVIL","SYK","SYNE1","SYNE2","SYT2","TARS1","TBC1D2B","TBC1D7","TBCD","TBL2","TBR1","TBX1","TBX15","TBX2","TBX22","TBX3","TBX4","TBX5","TBX6","TCEAL1","TCF12","TCF3","TCTN3","TDGF1","TDO2","TELO2","TF","TFAP2A","TFAP2B","TFE3","TFR2","TGDS","TGFB1","TGFB2","TGFB3","TGFBR1","TGFBR2","TGIF1","THOC2","THRA","THSD4","TIMM22","TIMM8A","TLK2","TLR4","TLR7","TMCO1","TMEM218","TMEM222","TMEM270","TMEM43","TMEM67","TMEM70","TMTC3","TNFAIP3","TNFRSF11B","TNFRSF1A","TNFSF11","TNFSF4","TNIP1","TNNI2","TNNT1","TNNT3","TNXB","TOM1","TONSL","TOR1A","TOR1AIP1","TP53","TP53RK","TP63","TPM2","TPM3","TPRKB","TRAPPC12","TRAPPC2","TREX1","TRIM2","TRIM8","TRIP11","TRPS1","TRPV4","TTC26","TTN","TUBA1A","TUBB3","TWIST1","TWIST2","UBA1","UBA2","UBAC2","UBE2A","UBE2L3","UBE2T","UBE3A","UBE3B","UBE4B","UBR7","UCHL1","UFC1","UFD1","UFSP2","UGP2","UMOD","UNC80","UPF3B","UROS","USP9X","VAC14","VAMP1","VANGL1","VARS1","VCP","VDR","VPS13A","VPS13B","VPS33A","VPS37D","VWF","WAS","WASF1","WBP11","WDR11","WDR19","WDR35","WDR4","WDR62","WDR73","WIPF1","WNK1","WNT4","WNT5A","WNT7A","WRN","XPA","XPC","XRCC2","XYLT1","YRDC","YWHAE","YY1","ZBTB20","ZC4H2","ZDHHC9","ZEB2","ZFYVE27","ZIC1","ZIC2","ZIC3","ZMPSTE24","ZNF407","ZNF469","ZNF687","ZNF699","ZPR1","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ARTHRITIS":{"collection":"C5:HPO","systematicName":"M35257","pmid":"","exactSource":"HP:0001369","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001369","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ARTHRITIS","geneSymbols":["ABCG8","ACAN","ACP5","ADA2","ADAR","AEBP1","AGA","AIP","ANK1","ANKH","ANKRD55","AP1S3","APOE","ARVCF","ASAH1","ASPN","ATP7B","BANK1","BLK","BLNK","BMP6","BTK","C1QB","C2orf69","C4A","C4B","CANT1","CASP10","CAV1","CCN2","CCN6","CCR1","CCR6","CD244","CD247","CD79A","CD79B","CFI","CIITA","CLCN7","CLCNKB","COL11A1","COL11A2","COL1A1","COL2A1","COL3A1","COL5A1","COL5A2","COL9A1","COL9A2","COL9A3","COMP","COMT","COPA","CR2","CTLA4","DCLRE1C","DDRGK1","DNAJB11","DNASE1","DNASE1L3","ELF4","EMILIN1","EPB42","EPCAM","ERAP1","ETS1","EXT1","EXT2","F8","F9","FAS","FASLG","FBN1","FCGR2A","FCGR2B","FCGR3B","FGF10","FGFR2","FGFR3","FOXP3","FRZB","G6PC1","GBA1","GCH1","GDF5","GHR","GJB2","GJB6","GLA","GNAS","GP1BB","GPR101","HFE","HGD","HIRA","HJV","HLA-B","HLA-C","HLA-DRB1","HNF1B","HOXD10","HPGD","HPRT1","IDS","IFIH1","IFNGR1","IGHG1","IGHG2","IGHM","IGKC","IGLL1","IL10","IL12A","IL12A-AS1","IL12B","IL23R","IL2RA","IL2RB","IL36RN","IL6","IMPDH2","IRAK1","IRF4","IRF5","ITGAM","JAZF1","JMJD1C","KIAA0319L","KIF22","KLRC4","KNSTRN","KRT5","LACC1","LBR","LMNA","LMX1B","LRBA","LRP6","LRRC8A","LSM11","MATN3","MECP2","MEFV","MIF","MIR140","MLX","MMP13","MMP14","MMP2","MTHFD1","MUC1","MVK","MYD88","MYH14","NFKBIL1","NGF","NLRP12","NLRP3","NOD2","NR4A2","NTRK1","OCRL","P4HA2","PDCD1","PERCC1","PFKM","PHEX","PIK3CD","PIK3R1","POFUT1","POGLUT1","PRG4","PRKCD","PRPS1","PSENEN","PSMB4","PSMB9","PSTPIP1","PTEN","PTPN2","PTPN22","PXK","RAG1","RAG2","RASGRP1","RNASEH2A","RNASEH2B","RNASEH2C","RNF168","RNU7-1","RREB1","SAMHD1","SAT1","SCARB2","SEC24C","SEC61A1","SH3KBP1","SLC12A3","SLC22A4","SLC26A2","SLC37A4","SLC39A7","SLC40A1","SLC4A1","SLCO2A1","SMAD2","SMAD3","SPI1","SPP1","SPTA1","SPTB","STAT4","STT3A","SYK","TBX1","TCF3","TF","TFR2","TGFB3","THSD4","TLR4","TLR7","TNFAIP3","TNFRSF11B","TNFRSF1A","TNFSF4","TNIP1","TOM1","TRAPPC2","TREX1","TRPS1","TRPV4","UBA1","UBAC2","UBE2L3","UFD1","UFSP2","UMOD","VPS13A","WAS","WIPF1","ZMPSTE24","ZNF687"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RHEUMATOID_ARTHRITIS":{"collection":"C5:HPO","systematicName":"M35258","pmid":"","exactSource":"HP:0001370","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001370","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RHEUMATOID_ARTHRITIS","geneSymbols":["ACP5","ANKRD55","CD244","CD247","CIITA","DCLRE1C","GCH1","HLA-DRB1","IGHG2","IGKC","IL10","IL2RA","IL2RB","IL6","IMPDH2","LACC1","MIF","NFKBIL1","NR4A2","PTPN2","PTPN22","SLC22A4","STAT4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_JOINT_DISLOCATION":{"collection":"C5:HPO","systematicName":"M35259","pmid":"","exactSource":"HP:0001373","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001373","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_JOINT_DISLOCATION","geneSymbols":["AARS1","ABCC9","ACTA1","ADAMTS2","ADAMTSL2","AEBP1","AFF3","AGRN","AKT1","ALDH18A1","ALG9","ANKH","APC","ARF1","ARFGEF2","ARID1B","ARNT2","ARVCF","ASXL1","ATAD1","ATP6V0A2","ATP6V1A","ATP6V1E1","ATP7A","ATR","B3GALT6","B3GAT3","B4GALT7","BAZ1B","BCL7B","BGN","BICD2","BMP1","BPNT2","BRCA1","BRCA2","BRD4","BRIP1","BUD23","C12orf57","C1R","C1S","CANT1","CARS1","CCDC47","CCDC8","CD96","CDC45","CDC6","CDON","CDT1","CEP85L","CFL2","CHAT","CHRM3","CHRNA1","CHRND","CHRNG","CHST11","CHST14","CHST3","CLCN3","CLCN7","CLIP2","CLTCL1","COL12A1","COL13A1","COL1A1","COL1A2","COL25A1","COL27A1","COL2A1","COL3A1","COL5A1","COL5A2","COL6A1","COL6A2","COL6A3","COLEC10","COLEC11","COMT","COX8A","CPLX1","CREBBP","CSGALNACT1","CTBP1","CUL7","DHCR7","DHODH","DISP1","DLL1","DNAJC21","DNAJC30","DNASE1L3","DONSON","DPYSL5","DSE","DSTYK","DVL1","DVL3","EBP","ECEL1","EFEMP2","EIF2AK3","EIF4A3","EIF4H","ELN","EP300","ERCC1","ERCC2","ERCC3","ERCC4","ERGIC1","ERMARD","EXOC6B","EXOSC3","EXT1","EXTL3","EYA1","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FBLN1","FBLN5","FBN1","FBN2","FBXL3","FGF8","FGFR1","FGFRL1","FHL1","FIG4","FKBP6","FKRP","FLI1","FLNA","FLNB","FOXH1","FUT8","FZD2","GAS1","GCDH","GDF5","GEMIN4","GJA1","GLI2","GLI3","GLRA1","GLRB","GMNN","GMPPB","GNB2","GNPTAB","GORAB","GP1BB","GPC3","GPC4","GPC6","GPHN","GSC","GTF2E2","GTF2H5","GTF2I","GTF2IRD1","GTF2IRD2","GZF1","HACD1","HACE1","HDAC4","HDAC8","HGD","HIRA","HK1","HNRNPH1","HOXA11","HPRT1","HSPG2","IARS2","IFIH1","IFITM5","IL6ST","INPP5K","IPO8","ITGA7","JMJD1C","KANSL1","KAT6B","KDM6A","KIF22","KLHL41","KMT2D","L1CAM","LARGE1","LBR","LETM1","LIMK1","LMNA","LMOD3","LMX1B","LONP1","LRP4","LTBP1","LYSET","MAB21L2","MACF1","MACROH2A1","MAD2L2","MAFB","MAP1B","MAP3K20","MAP3K7","MASP1","MBTPS2","MCTP2","METTL27","MKKS","MLXIPL","MPLKIP","MYH3","MYH8","MYL2","MYO9A","NAA10","NAE1","NCF1","NEB","NEDD4L","NFIX","NGLY1","NIPBL","NKX3-2","NLRP3","NODAL","NOG","NOTCH2","NSD2","NSDHL","NXN","OBSL1","OCRL","ORC1","ORC4","ORC6","OSGEP","PAFAH1B1","PALB2","PIEZO2","PIGL","PITX1","PKDCC","PLCH1","PLOD1","POLR3B","POMT1","POMT2","PORCN","PPP2R5D","PRKACB","PRKAR1A","PTCH1","PTEN","PTRH2","PUF60","PYCR1","PYCR2","RAD21","RAD51","RAD51C","RBM8A","RECQL4","RFC2","RFWD3","RNF113A","RNU4ATAC","ROR2","RREB1","RUNX2","RYR1","RYR3","SALL4","SCARF2","SCYL2","SEC24C","SEC31A","SELENON","SF3B4","SHH","SHOX","SHROOM4","SIL1","SIX1","SIX3","SKI","SLC10A7","SLC12A2","SLC18A3","SLC25A1","SLC26A2","SLC2A10","SLC35A3","SLC35B2","SLC39A13","SLC5A7","SLC6A5","SLC6A9","SLX4","SMARCA2","SMC1A","SMC3","SMO","SMOC1","SNAP25","SNRPB","SOX9","SPARC","SRCAP","SSR4","STAG2","STIL","STX1A","STXBP1","SYNE1","SYT2","TARS1","TBCD","TBL2","TBX1","TBX15","TBX4","TCTN3","TDGF1","TELO2","TFE3","TGDS","TGFBR1","TGFBR2","TGIF1","THRA","TMEM270","TMTC3","TNFRSF11B","TNNT3","TONSL","TOR1A","TPM2","TPM3","TRIM8","TRPS1","TTC26","UBA2","UBE2A","UBE2T","UBE3B","UFD1","USP9X","VAC14","VAMP1","VDR","VPS37D","WNT5A","WNT7A","XRCC2","XYLT1","YWHAE","YY1","ZC4H2","ZIC2","ZIC3","ZMPSTE24","ZNF469"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CONGENITAL_HIP_DISLOCATION":{"collection":"C5:HPO","systematicName":"M35260","pmid":"","exactSource":"HP:0001374","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001374","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONGENITAL_HIP_DISLOCATION","geneSymbols":["ABCC9","ACTA1","AGRN","ALDH18A1","ATP6V0A2","ATP6V1A","ATP6V1E1","BICD2","CCDC8","CHAT","CHRM3","CLCN3","CLTCL1","COL12A1","COL13A1","COL1A1","COL3A1","COL5A2","CUL7","DHODH","DNAJC21","ECEL1","EYA1","FBLN1","FHL1","FIG4","FLNA","GEMIN4","GPC3","GPC4","HACD1","HDAC4","HSPG2","IARS2","ITGA7","KAT6B","KDM6A","KIF22","KMT2D","LONP1","MAP3K20","MAP3K7","MKKS","MYL2","MYO9A","NAA10","NGLY1","NSDHL","OBSL1","PAFAH1B1","PIEZO2","PLOD1","PORCN","PPP2R5D","PTRH2","PUF60","PYCR1","RECQL4","RYR1","SELENON","SHROOM4","SIX1","SLC18A3","SLC25A1","SLC5A7","SNAP25","SNRPB","SYT2","TBCD","TBX15","TELO2","THRA","TPM2","TPM3","UBE3B","USP9X","VAMP1","WNT7A","YWHAE","ZIC3","ZNF469"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LIMITATION_OF_JOINT_MOBILITY":{"collection":"C5:HPO","systematicName":"M35261","pmid":"","exactSource":"HP:0001376","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001376","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIMITATION_OF_JOINT_MOBILITY","geneSymbols":["ABCA12","ABCC9","ACTA1","ACTB","ACTG1","ACTG2","ACVR1","ADAMTS10","ADAMTS17","ADAMTS2","ADAMTSL2","ADAMTSL4","ADAT3","ADCY6","ADGRG6","ADGRV1","AGA","AKT1","ALDH18A1","ALDH3A2","ALG1","ALOX12B","ALOXE3","ANKH","ANKRD55","ANO5","ANTXR2","APC","ARSB","ASAH1","ASPA","ASPN","ASXL1","ATAD1","ATP7A","ATR","ATRX","B3GAT3","B3GLCT","BANF1","BAZ1B","BCL7B","BGN","BHLHA9","BMP1","BMP6","BMPR1B","BPNT2","BRD4","BUD23","CAPN3","CASZ1","CBS","CCN6","CD244","CD247","CD96","CHMP1A","CHRNG","CHST11","CHST3","CIITA","CISD2","CKAP2L","CLCF1","CLIP2","CNTNAP1","COL11A2","COL12A1","COL1A1","COL1A2","COL25A1","COL27A1","COL2A1","COL6A1","COL6A2","COL6A3","COL9A3","COLEC10","COLEC11","COLQ","COMP","CPT2","CRLF1","CSGALNACT1","CTNNB1","DDR2","DEAF1","DKK1","DMD","DNAJC30","DPYSL5","DST","DVL1","DYM","DYSF","ECEL1","EED","EIF4H","ELN","EMD","EMG1","ENPP1","EPG5","ERCC1","ERCC2","ERCC5","ERCC6","ERCC8","ERGIC1","ERLIN2","ESCO2","EXT1","EXT2","EXTL3","EZH2","F8","FBN1","FBN2","FBXO28","FDFT1","FGF9","FGFR1","FGFR2","FGFR3","FHL1","FKBP10","FKBP6","FLII","FLNA","FLNB","FLNC","FN1","FUZ","FZD2","GABRA1","GABRD","GABRG2","GBE1","GDAP1","GDF5","GJB2","GLB1","GLDN","GLE1","GLRA1","GLRB","GNAI3","GNAS","GNB1","GNB2","GNE","GNPTAB","GNPTG","GNS","GPC6","GPHN","GPKOW","GSC","GTF2I","GTF2IRD1","GTF2IRD2","GTPBP2","GUSB","HACD1","HCN1","HDAC8","HERC1","HFE","HGD","HGSNAT","HLA-B","HLA-DRB1","HNRNPDL","HOXA11","HPGD","HRAS","HS2ST1","HSPG2","IDH1","IDH2","IDS","IDUA","IFITM5","IL10","IL2RA","IL2RB","IL6ST","INPPL1","IQSEC2","IRF6","ITCH","ITGA7","JAG2","KCNAB2","KCNK9","KIF1A","KIF22","KRT1","KRT83","KY","L1CAM","LAMA2","LAMB2","LARGE1","LBR","LEMD3","LGI4","LIFR","LIMK1","LMBR1","LMNA","LMX1B","LSS","LTBP2","LTBP3","LUZP1","MACROH2A1","MAF","MAFB","MAN2B1","MAP3K20","MAP3K7","MAPK1","MASP1","MATN3","MBTPS2","MECOM","MECP2","MED12","MET","METTL27","MFN2","MLXIPL","MMP13","MMP2","MMP23B","MMP9","MTX2","MUSK","MVK","MYBPC1","MYH3","MYH8","MYL1","MYL11","MYL2","MYOT","NAE1","NAGLU","NALCN","NCF1","NDE1","NDUFS3","NEK9","NFIX","NFKBIL1","NIPA1","NIPBL","NOD2","NOG","NOTCH3","NPR2","NSD1","OCA2","OCRL","OPA3","P4HA2","P4HTM","PAX3","PCDH19","PCNT","PCYT1A","PDGFRB","PDPN","PERP","PHEX","PIEZO2","PIGA","PIGY","PIK3C2A","PITX1","PKDCC","PLA2G6","PLOD1","PLOD2","PLOD3","PLP1","PNKD","POMT1","POR","PPP1R12A","PPP2R3C","PRDM16","PRG4","PRKCZ","PRRT2","PSMB8","PSTPIP1","PTDSS1","PTEN","PTF1A","PTH1R","PTPN11","PTPN2","PTPN22","PYCR1","RAB18","RAB33B","RAB3GAP1","RAB3GAP2","RAD21","RAI1","RECQL4","RERE","RFC2","RMRP","RNU4ATAC","RSPO2","RSPRY1","SALL4","SCARF2","SCN1A","SCN1B","SCN2A","SCN4A","SCN9A","SCUBE3","SCYL2","SELENON","SETBP1","SF3B4","SFRP4","SGCA","SGSH","SH3PXD2B","SHH","SHOX","SKI","SLC22A4","SLC25A19","SLC25A46","SLC26A2","SLC29A3","SLC39A8","SLC6A5","SLC6A9","SLCO2A1","SMAD4","SMAD6","SMARCB1","SMC1A","SMC3","SNRPB","SPEN","SPRED2","SPRTN","STAG1","STAT4","STING1","STX1A","STX1B","STXBP1","SUMF1","SUZ12","SVIL","SYNE1","SYNE2","SYT2","TBC1D20","TBL2","TBX15","TBX3","TBX4","TBX5","TDO2","TFAP2A","TFE3","TGDS","TGFB1","TGM1","TMEM222","TMEM270","TMEM43","TNFRSF11B","TNNI2","TNNT1","TNNT3","TONSL","TOR1A","TPM2","TPM3","TRAPPC2","TREM2","TRPV3","TRPV4","TTN","TYROBP","UBA1","UBE3A","UBE4B","UNC80","USB1","USP9X","VANGL1","VAPB","VCP","VPS33A","VPS37D","WFS1","WNT5A","WNT7A","WRN","ZC4H2","ZMPSTE24","ZNHIT3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LIMITED_ELBOW_EXTENSION":{"collection":"C5:HPO","systematicName":"M35262","pmid":"","exactSource":"HP:0001377","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001377","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIMITED_ELBOW_EXTENSION","geneSymbols":["ABCC9","ATP7A","BGN","BPNT2","CLCF1","COL27A1","COL2A1","COL9A3","COMP","CRLF1","CSGALNACT1","DVL1","DYM","ESCO2","EZH2","FBN1","FBN2","FGFR2","FGFR3","FLNA","FLNB","FZD2","GNB1","GPC6","HDAC8","ITCH","KCNK9","LBR","LMX1B","MAPK1","MATN3","MED12","MMP13","NIPBL","NPR2","OPA3","PCNT","POR","PPP2R3C","RAB33B","RMRP","RNU4ATAC","RSPRY1","SF3B4","SFRP4","SPRED2","STAG1","TBX5","TDO2","TFE3","TONSL","WNT5A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_JOINT_HYPERMOBILITY":{"collection":"C5:HPO","systematicName":"M35263","pmid":"","exactSource":"HP:0001382","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001382","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_JOINT_HYPERMOBILITY","geneSymbols":["ABCC6","ABL1","ADAMTS2","ADAMTSL2","ADGRL1","AEBP1","ALDH18A1","AMMECR1","ANKRD17","ANKRD55","ANTXR1","ARF1","ARFGEF2","ARVCF","ASAH1","ATN1","ATP6AP1","ATP6V0A2","ATP6V1B2","ATP7A","ATP7B","ATR","ATRIP","B3GALT6","B3GAT3","B4GALT7","BAZ1B","BCL11A","BCL7B","BCR","BGN","BMP1","BRAF","BRPF1","BUD23","C1R","C1S","CAMK2A","CAMTA1","CANT1","CBL","CCDC8","CD247","CDC42BPB","CDC45","CDC6","CDK13","CDT1","CENPE","CENPJ","CEP152","CHAMP1","CHST3","CLIP2","COL11A1","COL12A1","COL18A1","COL1A1","COL1A2","COL2A1","COL3A1","COL5A1","COL5A2","COL6A1","COL6A2","COL6A3","COL9A1","COL9A2","COL9A3","COLEC11","COMP","COMT","CREB3L1","CREBBP","CRKL","CRTAP","CSGALNACT1","CSNK2A1","CTNND2","CUL4B","CUL7","DBH","DHX30","DLK1","DNA2","DNAJC21","DNAJC30","DNMT3A","DPYD","DPYSL5","ECEL1","EED","EFEMP2","EFNB1","EIF4H","EIF5A","ELN","EMILIN1","ENPP1","EP300","ERMARD","EXT1","EZH2","FARSA","FBLN5","FBN1","FGD1","FGFR3","FKBP14","FKBP6","FLNA","FLNB","GAN","GDF11","GDF5","GJA5","GJA8","GMNN","GNB1","GNB2","GNE","GORAB","GP1BB","GTF2I","GTF2IRD1","GTF2IRD2","GTPBP2","GZF1","H4C5","H4C9","HDAC4","HEPHL1","HIRA","HNF1B","HOXD13","HRAS","HYAL1","IARS2","IFITM5","IFT122","IFT43","IFT52","IL1RAPL1","IL2RA","IL2RB","IL6ST","IPO8","JMJD1C","KANSL1","KAT6B","KCNH1","KCNMA1","KCNN3","KDELR2","KDM1A","KDM3B","KDM6A","KDM6B","KMT2A","KMT2D","KRAS","LBR","LIG4","LIMK1","LMNA","LMNB2","LMX1B","LONP1","LOX","LRP5","LZTR1","MAMLD1","MAN1B1","MAP1B","MAP3K7","MAPK1","MBTPS2","MED12","MEFV","MEG3","METTL27","MLXIPL","MRAS","MTM1","NAE1","NCF1","NEDD4L","NEPRO","NF1","NFASC","NFIX","NGLY1","NLRP1","NOTCH2","NOTCH3","NPR2","NRAS","NSD1","NSDHL","NSUN2","NUP85","OBSL1","OCRL","ORC1","ORC4","ORC6","OTUD6B","P4HB","P4HTM","PAK2","PAX2","PCGF2","PCNT","PGM2L1","PGM3","PHF6","PHIP","PIGG","PIGP","PIGT","PIGU","PIK3CA","PIK3R1","PKDCC","PLAA","PLK4","PLOD1","POLR3A","PPP1CB","PPP2R1A","PRDM5","PROKR2","PRR12","PTCH1","PTDSS1","PTEN","PTHLH","PTPN11","PTPN2","PTPN22","PUF60","PYCR1","PYCR2","PYROXD1","RAB3GAP1","RAB3GAP2","RAD21","RAF1","RASA2","RBBP8","RFC2","RIN2","RIT1","RMRP","RNF13","RPS6KA3","RRAS","RRAS2","RREB1","RSPRY1","RTL1","RYR1","SATB1","SATB2","SCUBE3","SEC23A","SEC24C","SEC24D","SEMA5A","SET","SETD1A","SHANK3","SIN3A","SIN3B","SKI","SLC10A7","SLC26A2","SLC2A10","SLC35A2","SLC39A8","SLC6A8","SLC9A6","SMOC1","SMS","SON","SOS1","SOS2","SP7","SPART","SPRED2","SRCAP","STAT3","STAT4","STX1A","SUZ12","TAB2","TAF1","TANC2","TAOK1","TBL2","TBX1","TCF12","TENT5A","TET3","TGDS","TGFB2","TGFB3","TGFBR1","TGFBR2","TLK2","TMCO1","TMEM270","TMTC3","TNFRSF1A","TNNC2","TNRC6B","TNXB","TOGARAM1","TRAIP","TRIP11","TRPS1","TTC26","UBE3A","UFD1","UPF3B","USP9X","VAMP1","VPS13B","VPS37A","VPS37D","WASF1","WDR19","WDR35","WNT1","XYLT1","XYLT2","YARS1","YY1","ZBTB20","ZDHHC9","ZMIZ1","ZMYM2","ZNF341","ZNF469"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_HIP_JOINT_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M47044","pmid":"","exactSource":"HP:0001384","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001384","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_HIP_JOINT_MORPHOLOGY","geneSymbols":["AARS1","ABCC6","ABCC9","ACTA1","ADAMTS2","ADAMTSL2","AEBP1","AFF3","AFF4","AGRN","AKT1","ALDH18A1","ALG9","ANKRD55","AP3B1","AP4B1","AP4E1","AP4M1","AP4S1","APC","APC2","ARNT2","ARSB","ARSK","ATAD1","ATP6V0A2","ATP6V1A","ATP6V1E1","ATP7A","ATR","B3GALT6","B3GAT3","BGN","BICD2","BICRA","BIN1","BRCA1","BRCA2","BRD4","BRIP1","C12orf57","CANT1","CCDC47","CCDC8","CCN6","CD247","CD96","CDON","CENPJ","CEP120","CEP85L","CFL2","CHAT","CHD4","CHRM3","CHRNG","CHST3","CLCN3","CLTCL1","COG1","COL10A1","COL12A1","COL13A1","COL1A1","COL1A2","COL25A1","COL27A1","COL2A1","COL3A1","COL5A1","COL5A2","COL6A1","COL6A2","COL6A3","COL9A3","COLEC10","COLEC11","COMP","COX8A","CPLX1","CRTAP","CSGALNACT1","CSPP1","CTBP1","CUL7","DDR2","DHCR7","DHODH","DISP1","DLL1","DNAJC21","DPYSL5","DSTYK","DVL1","DVL3","DYM","DYNC2H1","DYNC2I1","DYNLT2B","EBP","ECEL1","EFEMP2","EIF2AK3","EIF4A3","ELN","ENPP1","ERCC1","ERCC4","ERCC8","ERGIC1","ERLIN2","EVC","EVC2","EXOC6B","EXOSC3","EXT1","EXT2","EXTL3","EYA1","F8","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FAT4","FBLN1","FBLN5","FBN1","FBN2","FGF8","FGFR1","FGFR2","FGFR3","FGFRL1","FHL1","FIG4","FKBP10","FKRP","FLI1","FLNA","FLNB","FOXH1","FUT8","FZD2","GARS1","GAS1","GATA1","GDF5","GEMIN4","GET4","GJA1","GLB1","GLI2","GLI3","GLRA1","GLRB","GMPPB","GNB2","GNPTAB","GORAB","GPC3","GPC4","GPHN","GPX4","GSC","GUSB","HACD1","HACE1","HDAC4","HDAC8","HK1","HNRNPH1","HOXA11","HPRT1","HS2ST1","HSPG2","HYAL1","IARS2","IFIH1","IFT52","IL2RA","IL2RB","IL6ST","INPP5K","INPPL1","IPO8","ITGA7","KANSL1","KAT6B","KDM6A","KIAA0586","KIAA0753","KIF22","KLHL41","KMT2D","LAMA5","LARGE1","LETM1","LGI4","LMNA","LMNB2","LMOD3","LONP1","LRP4","LTBP1","LYSET","MACF1","MAD2L2","MAP3K20","MAP3K7","MASP1","MATN3","MBTPS2","MCTP2","MKKS","MMP2","MUSK","MYH3","MYH8","MYL1","MYL11","MYL2","MYO18B","MYO9A","NAA10","NALCN","NANS","NEB","NEPRO","NFATC2","NFIX","NGLY1","NIPBL","NKX3-2","NODAL","NRCAM","NSD1","NSD2","NSDHL","OBSL1","OCRL","OSGEP","OSTM1","P4HTM","PAFAH1B1","PALB2","PAM16","PI4KA","PIEZO2","PIGA","PIGL","PIGY","PLCH1","PLOD1","PNPT1","POLR1A","POLR3B","POMT1","POMT2","PORCN","PPP2R5D","PTCH1","PTEN","PTH1R","PTPN2","PTPN22","PTRH2","PUF60","PYCR1","PYCR2","RAB23","RAB33B","RAD21","RAD51","RAD51C","RBM8A","RECQL4","RFWD3","RINT1","RMRP","RNU4ATAC","RPS15A","RUNX2","RYR1","RYR3","SCN4A","SCYL2","SEC31A","SELENON","SERPINF1","SETD2","SF3B4","SHH","SHROOM4","SIL1","SIX1","SIX3","SLC10A7","SLC12A2","SLC18A3","SLC25A1","SLC26A2","SLC2A10","SLC35A2","SLC35A3","SLC35D1","SLC5A7","SLC6A5","SLC6A9","SLX4","SMAD3","SMARCAL1","SMC1A","SMC3","SMO","SMOC1","SNAP25","SNRPB","SOX9","SPARC","SPEG","STAG2","STAT4","STIL","SYT2","TBCD","TBX15","TBX4","TCTN3","TDGF1","TELO2","TFE3","TGFB2","TGFBR2","TGIF1","THOC2","THRA","TIMM22","TMEM67","TNNT1","TNNT3","TONSL","TOR1A","TPM2","TPM3","TRAPPC12","TRIM8","TRIP11","TRPV4","TTN","UBA1","UBA2","UBE2T","UBE3B","UFSP2","UNC80","USP9X","VAC14","VAMP1","VPS33A","WDR19","WDR35","WNT5A","WNT7A","XRCC2","XYLT1","YWHAE","ZBTB20","ZC4H2","ZIC2","ZIC3","ZMPSTE24","ZNF407","ZNF469"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HIP_DYSPLASIA":{"collection":"C5:HPO","systematicName":"M35264","pmid":"","exactSource":"HP:0001385","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001385","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HIP_DYSPLASIA","geneSymbols":["ADAMTS2","ADAMTSL2","ANKRD11","ARSB","ARSK","ATAD3A","ATN1","ATP1A3","ATP6V1A","ATP6V1E1","ATP7A","ATR","ATRIP","B3GALT6","BAP1","BICD2","BPNT2","BRD4","CASZ1","CCDC47","CCDC8","CENPE","CENPJ","CEP152","CNOT3","COG6","COL10A1","COL1A1","COL1A2","COL2A1","COL9A2","COMP","CPLX1","CREBBP","CTBP1","DDB1","DNA2","DPYSL5","DVL1","DVL3","EP300","EXT1","FARS2","FGFRL1","FZD2","GABRD","GDF5","GLB1","GLE1","GLI3","GMNN","GNPTAB","GNS","HDAC8","HEATR3","HERC2","HIVEP2","HNRNPK","HNRNPR","HOXA11","HSPG2","IDS","INPP5K","IPO8","IRX5","KANSL1","KCNAB2","KCNK4","KDM3B","KDM6A","KMT2D","LETM1","LGI3","LMNA","LUZP1","MAGEL2","MATN3","MBD5","MECOM","MED12","MKRN3","MMP13","MMP23B","MRPS25","MYH7","NDN","NFIX","NGLY1","NIN","NIPBL","NPAP1","NRCAM","NSD2","NUP85","OCA2","OGDHL","PCNT","PDPN","PGAP2","PGAP3","PHIP","PIEZO2","PIGL","PIGO","PIGV","PIGW","PIGY","PLK4","POLR3A","PPP2R1A","PPP2R3C","PRDM16","PRDM5","PRIM1","PRKCZ","PUF60","PWAR1","PWRN1","RAB11B","RAD21","RBBP8","RERE","RNF13","SELENON","SETBP1","SH3PXD2B","SH3TC2","SHPK","SIL1","SIM1","SKI","SLC26A2","SLC2A10","SLC35A3","SMARCA2","SMC1A","SMC3","SNORD115-1","SNORD116-1","SNRPN","SPEN","SRCAP","TAF1","TBX4","TET3","TFE3","THOC2","TRAIP","TRAPPC11","TRPM3","TRPS1","TRPV4","TTN","UBA2","UBE4B","UFSP2","UMPS","UNC45A","USP7","USP9X","VIPAS39","VPS33B","WDR19","WDR26","WNT5A","ZBTB20","ZNF469"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_JOINT_SWELLING":{"collection":"C5:HPO","systematicName":"M35265","pmid":"","exactSource":"HP:0001386","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001386","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_JOINT_SWELLING","geneSymbols":["ACP5","AIP","ANKH","ANKRD55","ASAH1","ATP7B","BMP6","BTNL2","CCN6","CD244","CD247","CHEK2","CIITA","COL1A1","COL5A1","COL5A2","DDR2","F8","FGA","FGB","FGG","GNB2","GPR101","HFE","HGD","HLA-B","HLA-DRB1","HPGD","IL10","IL1RN","IL2RA","IL2RB","IL6","LACC1","LPIN2","MEFV","MIF","NFKBIL1","NOD2","OCRL","OTULIN","PTPN2","PTPN22","RB1","SLC22A4","SLCO2A1","STAT4","SYK","TNFRSF11B","TNFRSF1A","TP53","TRAPPC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_JOINT_STIFFNESS":{"collection":"C5:HPO","systematicName":"M35266","pmid":"","exactSource":"HP:0001387","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001387","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_JOINT_STIFFNESS","geneSymbols":["ACTB","ACTG1","ACTG2","ADAMTS10","ADAMTS17","ADAMTS2","ADAMTSL2","ADAMTSL4","AGA","AKT1","ALDH3A2","ANKRD55","ANTXR2","ARSB","ASPA","ASPN","ATAD1","ATRX","BANF1","BAZ1B","BCL7B","BMP6","BMPR1B","BRD4","BUD23","CASZ1","CBS","CCN6","CD244","CD247","CHMP1A","CHST11","CIITA","CISD2","CLIP2","COL1A1","COL1A2","COL2A1","COMP","DEAF1","DKK1","DNAJC30","EED","EIF4H","ELN","EMD","EMG1","EPG5","ERCC1","ERCC2","ERCC5","ERCC6","EZH2","FBN1","FBN2","FGF9","FGFR3","FHL1","FKBP10","FKBP6","FLII","FLNA","FUZ","GABRD","GDF5","GLB1","GLRA1","GLRB","GNPTG","GNS","GPHN","GTF2I","GTF2IRD1","GTF2IRD2","GTPBP2","GUSB","HDAC8","HFE","HGD","HGSNAT","HLA-B","HLA-DRB1","HPGD","HSPG2","IDH1","IDH2","IDUA","IL10","IL2RA","IL2RB","INPPL1","IQSEC2","IRF6","KCNAB2","KRT83","L1CAM","LEMD3","LIMK1","LMNA","LSS","LTBP2","LTBP3","LUZP1","MACROH2A1","MAN2B1","MATN3","MECP2","METTL27","MFN2","MLXIPL","MMP13","MMP23B","MMP9","MTX2","MYBPC1","MYH3","NAE1","NAGLU","NALCN","NCF1","NDE1","NDUFS3","NEK9","NFKBIL1","NIPBL","NOG","NPR2","NSD1","OCRL","P4HA2","PAX3","PCYT1A","PDPN","PIEZO2","PITX1","PLA2G6","PLOD2","PNKD","POMT1","PPP1R12A","PRDM16","PRG4","PRKCZ","PRRT2","PTEN","PTF1A","PTH1R","PTPN2","PTPN22","RAB18","RAB3GAP1","RAB3GAP2","RAD21","RAI1","RECQL4","RERE","RFC2","RNU4ATAC","SALL4","SCUBE3","SETBP1","SF3B4","SGSH","SH3PXD2B","SHOX","SKI","SLC22A4","SLC26A2","SLC6A5","SMAD4","SMC1A","SMC3","SPEN","STAT4","STING1","STX1A","SUMF1","SUZ12","SYNE1","SYNE2","TBC1D20","TBL2","TBX3","TBX5","TGDS","TMEM270","TMEM43","TNNI2","TNNT3","TPM2","TRAPPC2","TRPV4","UBE4B","USB1","VANGL1","VAPB","VPS33A","VPS37D","WFS1","WRN","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_JOINT_LAXITY":{"collection":"C5:HPO","systematicName":"M35267","pmid":"","exactSource":"HP:0001388","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001388","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_JOINT_LAXITY","geneSymbols":["ACAN","ADAMTS2","ADNP","AEBP1","AGA","AGRN","AHDC1","ALDH18A1","ALG14","ALG2","AP1G1","AP4B1","AP4E1","AP4M1","AP4S1","APC2","ARCN1","ARID1A","ARID1B","ARID2","ASPH","ATP6V0A2","ATP6V1A","ATP6V1E1","ATP7A","B3GALT6","B3GLCT","B4GALT7","BAZ1B","BCL7B","BGN","BICRA","BUD23","C12orf4","C1R","CANT1","CBL","CCDC47","CCNQ","CDC45","CEP104","CHAT","CHD3","CHD7","CHST14","CLIP2","COL12A1","COL13A1","COL1A1","COL1A2","COL2A1","COL5A1","COL5A2","COL6A1","COL6A2","COL6A3","COMP","CREBBP","CSGALNACT1","CTSK","CUL4B","DCHS1","DCPS","DDB1","DDRGK1","DDX3X","DEAF1","DLG4","DLK1","DNAJC30","DPAGT1","DPF2","DSE","DUSP6","EED","EFEMP2","EFNB1","EIF4H","ELN","EN1","EP300","ERMARD","EXOC6B","FARSB","FAT4","FBLN5","FBXL3","FGD1","FGF17","FGF8","FGFR1","FGFR3","FKBP10","FKBP6","FLNA","FLNB","FMR1","FOCAD","GALNS","GATA1","GATAD2B","GFPT1","GJA5","GJA8","GLB1","GMPPB","GNB2","GNRH1","GNRHR","GPC4","GRIA3","GTF2I","GTF2IRD1","GTF2IRD2","H3-3A","H3-3B","HERC1","HNRNPH1","HNRNPH2","HNRNPK","HS6ST1","HYMAI","IARS1","IFT122","IFT43","IPO8","JARID2","KANSL1","KCNJ2","KCNJ5","KDM6A","KIF22","KISS1","KISS1R","KMT2A","LIMK1","LONP1","LOX","LRP5","LTBP1","LTBP4","MAN1B1","MAN2B1","MAP2K2","MAP3K20","MAP3K7","MAPK1","MARS1","MCTP2","MED12","MEG3","METTL27","MICU1","MKS1","MLXIPL","MRE11","MSTO1","MYO9A","NANS","NCF1","NHLH2","NKAP","NONO","NOTCH2","NPR2","NPR3","NSD1","NSMF","ORC1","OTX2","P3H1","PAX2","PDE4D","PEX2","PHIP","PIGG","PIGP","PIGS","PIK3CA","PIK3R1","PLAGL1","PLOD1","PMM2","POGZ","POLR3GL","PORCN","PPP1R15B","PROK2","PROKR2","PTDSS1","PTEN","PUF60","PUS1","PYROXD1","RAB3GAP2","RAC1","RAI1","RECQL","RET","RFC2","RFX7","RIN2","RMRP","RNF125","ROR2","RTL1","RUSC2","RYR1","SATB2","SEC23A","SERPINF1","SERPINH1","SETD2","SHOC2","SIN3A","SKI","SLC18A3","SLC25A1","SLC2A10","SLC35B2","SLC39A13","SLC5A7","SLC6A9","SMAD3","SMARCA2","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SNAP25","SOBP","SOX11","SOX4","SOX9","SPARC","SPRY4","SPTBN1","SRCAP","STAC3","STAG1","STRADA","STX1A","SYT1","SYT2","TAC3","TACR3","TBL1XR1","TBL2","TBR1","TCTN3","TDO2","TELO2","TENT5A","TGDS","TGFB2","TGFBR1","TGFBR2","THOC2","TMEM165","TMEM270","TONSL","TRIM8","TRIP4","TRMT10A","TUBB3","UBR1","USB1","USP9X","VAMP1","VPS37D","WDR11","WDR35","XYLT1","YWHAG","ZNF469"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_LIVER":{"collection":"C5:HPO","systematicName":"M35268","pmid":"","exactSource":"HP:0001392","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001392","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_LIVER","geneSymbols":["ABCA1","ABCA12","ABCB11","ABCB4","ABCC2","ABCC6","ABCC8","ABCD1","ABCD3","ABCG5","ABCG8","ABHD5","ACAD9","ACADM","ACADS","ACADVL","ACAT1","ACOX1","ACP5","ACSL5","ACTG2","ACVR2B","ACVRL1","ADA","ADA2","ADAMTS13","ADAMTSL2","ADAR","ADK","AGA","AGGF1","AGL","AGPAT2","AGR2","AHCY","AIRE","AKR1D1","AKT2","ALAS2","ALDH1A2","ALDOA","ALDOB","ALG1","ALG13","ALG2","ALG5","ALG6","ALG8","ALG9","ALMS1","AMACR","ANK1","ANKRD55","ANKS6","ANTXR1","AP1B1","AP1S1","AP3B1","AP3D1","APC","APC2","APOA1","APOB","APOC2","APOE","APPL1","ARG1","ARHGAP31","ARID1A","ARID1B","ARID2","ARL13B","ARL6","ARMC5","ARSA","ARSB","ARVCF","ASAH1","ASL","ASS1","ASXL1","ATAD3A","ATP11C","ATP5F1A","ATP5F1D","ATP5F1E","ATP5MK","ATP6AP1","ATP6AP2","ATP6V1B2","ATP7A","ATP7B","ATP8B1","ATPAF1","ATPAF2","ATRX","AUH","AXIN1","B2M","B3GLCT","B4GALT1","B9D1","B9D2","BAAT","BAP1","BAZ1B","BBIP1","BBS1","BBS10","BBS12","BBS2","BBS4","BBS5","BBS7","BBS9","BCAP31","BCHE","BCL7B","BCS1L","BICC1","BLK","BLM","BLNK","BLVRA","BMP2","BMP6","BMPER","BMPR1A","BOLA3","BRCA1","BRCA2","BRIP1","BSCL2","BTD","BTK","BTNL2","BUD23","C1QBP","C1S","C2orf69","C4B","CA2","CA5A","CALR","CARS2","CASK","CASP10","CASP8","CASR","CASZ1","CAV1","CAVIN1","CBL","CBS","CC2D2A","CCDC115","CCDC28B","CCDC47","CCND1","CD19","CD247","CD27","CD28","CD3D","CD3E","CD40LG","CD55","CD70","CD79A","CD79B","CD81","CD96","CDAN1","CDIN1","CDKN1B","CDKN1C","CDKN2A","CEACAM3","CEACAM6","CEL","CEP120","CEP164","CEP19","CEP290","CEP83","CFAP418","CFTR","CHD7","CIDEC","CIITA","CLCA4","CLCN7","CLDN1","CLEC7A","CLIP2","CLPB","CNOT1","CNTNAP2","COA8","COG1","COG4","COG5","COG6","COG7","COG8","COMT","CORIN","COX14","COX15","COX4I2","COX5A","CP","CPA1","CPLX1","CPOX","CPT1A","CPT2","CR2","CREBBP","CSPP1","CTBP1","CTC1","CTCF","CTLA4","CTNNB1","CTNS","CTRC","CTSA","CTSC","CTSK","CYBA","CYBB","CYBC1","CYP19A1","CYP27A1","CYP7A1","CYP7B1","DAXX","DCDC2","DCLRE1C","DCTN4","DDOST","DDRGK1","DEF6","DGUOK","DHCR7","DHDDS","DHFR","DIS3L2","DKC1","DLD","DLK1","DLL4","DMPK","DNAJB11","DNAJC19","DNAJC21","DNAJC30","DNASE1L3","DNASE2","DOCK2","DOCK6","DPAGT1","DPF2","DPM1","DPM2","DUOX2","DUOXA2","DYNC2H1","DYNC2I1","DYNC2I2","DYNC2LI1","DZIP1L","EARS2","EDNRA","EFL1","EIF2AK3","EIF4H","ELN","ENG","ENPP1","EOGT","EP300","EPB41","EPB42","EPCAM","ERBB3","ERCC1","ERCC4","ERCC6","ERCC8","ESCO2","ETFA","ETFB","ETFDH","EWSR1","EXTL3","F5","FADD","FAH","FAM111B","FAN1","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FARS2","FARSA","FARSB","FAS","FASLG","FBN1","FBP1","FCGR2A","FCGR3B","FDX2","FECH","FERMT3","FGA","FGFR2","FGFRL1","FH","FKBP6","FLI1","FLNC","FLT1","FOCAD","FOS","FOXF1","FOXP3","FOXRED1","FTH1","FTL","FUCA1","G6PC1","G6PC3","G6PD","GAA","GABRD","GALE","GALK1","GALM","GALNS","GALT","GANAB","GATA2","GATA6","GBA1","GBE1","GCDH","GCGR","GCK","GCLC","GDF2","GFM1","GH1","GIMAP5","GLB1","GLIS3","GLRX5","GNAS","GNB2","GNE","GNMT","GNPTAB","GNS","GP1BB","GPC3","GPC4","GPD1","GPI","GPIHBP1","GPR35","GSTM3","GTF2I","GTF2IRD1","GTF2IRD2","GUCY2D","GUSB","GYPC","H19","HADH","HADHA","HADHB","HAMP","HAVCR2","HBA1","HBA2","HBB","HBG1","HBG2","HCK","HEPACAM","HESX1","HEXB","HFE","HGSNAT","HIRA","HJV","HK1","HLA-DRB1","HMBS","HMGCL","HMGCS2","HMOX1","HNF1A","HNF1B","HNF4A","HNRNPA1","HNRNPA2B1","HOXD13","HPGD","HSD17B10","HSD17B4","HSD3B7","HSPG2","HTRA2","HYMAI","HYOU1","IARS1","ICOS","IDS","IDUA","IER3IP1","IFIH1","IFNG","IFNGR1","IFT122","IFT140","IFT172","IFT27","IFT43","IFT74","IFT80","IGF2","IGF2R","IGHG2","IGHM","IGKC","IGLL1","IKBKG","IL12A","IL12RB1","IL17F","IL17RA","IL17RC","IL18BP","IL1RN","IL21R","IL2RA","IL2RB","IL2RG","IL36RN","IL6","IL6ST","IL7R","INPP5E","INPPL1","INS","INSR","INTU","INVS","IQCB1","IRAK4","IRF2BP2","IRF4","IRF5","IRF8","ITCH","ITK","IYD","JAG1","JAK1","JAK2","JAK3","JAM2","JAM3","JMJD1C","KCNAB2","KCNH1","KCNJ11","KCNMA1","KCNN3","KCNN4","KCNQ1","KCNQ1OT1","KDM5C","KIAA0753","KIF12","KIF20A","KIF23","KIF3B","KIT","KLF1","KLF11","KMT2B","KMT2D","KMT2E","KPTN","KRAS","KRIT1","KRT18","KYNU","LACC1","LAMA5","LARS1","LBR","LCAT","LDLR","LDLRAP1","LETM1","LHX3","LHX4","LIG3","LIG4","LIMK1","LIPA","LIPE","LMBRD1","LMNA","LMNB2","LONP1","LPIN2","LPL","LRP5","LRPPRC","LRRC8A","LSM11","LTBP3","LUZP1","LYRM4","LYST","LYZ","LZTFL1","LZTR1","MAD2L2","MADD","MAGT1","MAN2B1","MAPK8IP3","MARS1","MCCC1","MCM4","MECOM","MECP2","MED12","MED25","MEFV","MEG3","MET","METTL27","MFN2","MICOS13","MICU1","MIF","MKKS","MKS1","MLH1","MLH3","MLXIPL","MMAA","MMAB","MMACHC","MMEL1","MMP23B","MMUT","MOGS","MPC1","MPI","MPL","MPV17","MRAS","MRPL3","MRPL44","MRPS28","MRPS7","MS4A1","MSH2","MSH6","MST1","MT-ATP6","MT-ATP8","MT-CYB","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND5","MT-ND6","MT-TE","MT-TK","MT-TL1","MT-TN","MT-TS1","MT-TV","MT-TW","MTRR","MTTP","MTX2","MUC5B","MVK","MYBPC3","MYC","MYD88","MYL2","MYO5B","MYORG","MYPN","MYRF","NAA10","NAB2","NAE1","NAF1","NAGA","NAGLU","NAGS","NBAS","NCF1","NCF2","NCF4","NCKAP1L","NDUFA1","NDUFA11","NDUFA2","NDUFA6","NDUFAF1","NDUFAF2","NDUFAF3","NDUFAF4","NDUFAF5","NDUFAF8","NDUFB10","NDUFB11","NDUFB3","NDUFB9","NDUFS1","NDUFS2","NDUFS3","NDUFS4","NDUFS6","NDUFS7","NDUFS8","NDUFV1","NDUFV2","NEK1","NEK8","NELFA","NEU1","NEUROD1","NEUROG3","NFKB1","NFKB2","NFKBIA","NFS1","NGLY1","NHLRC2","NHP2","NKX2-5","NLRP1","NLRP3","NOD2","NOP10","NOTCH1","NOTCH2","NPC1","NPC2","NPHP1","NPHP3","NPHP4","NPM1","NR1H4","NRAS","NSD1","NSD2","NSMCE2","NUBPL","OCLN","OFD1","OSTM1","OTUD5","PALB2","PALLD","PARN","PARS2","PAX4","PAX8","PC","PCCA","PCCB","PCK1","PCK2","PCSK1","PCSK9","PDE11A","PDGFB","PDGFRA","PDGFRB","PDGFRL","PDPN","PDX1","PEPD","PERCC1","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PFKM","PGM1","PHKA2","PHKB","PHKG2","PI4KA","PIEZO1","PIGA","PIGG","PIGL","PIGM","PIGS","PIK3C2A","PIK3CA","PIK3CD","PIK3CG","PIK3R1","PKD1","PKD2","PKHD1","PKLR","PLAGL1","PLEKHM1","PLIN1","PMM2","PMS1","PMS2","PNPLA2","PNPLA6","POLD1","POLG","POLG2","POLR3A","POMC","POU1F1","POU2AF1","POU6F2","PPARG","PPOX","PPP1R21","PRDM16","PRF1","PRIM1","PRKAR1A","PRKCD","PRKCSH","PRKCZ","PROP1","PRPS1","PRSS1","PRSS2","PSAP","PSMB10","PSMB4","PSMB8","PSMB9","PSMG2","PSTPIP1","PTEN","PTPN11","PTPN2","PTPN22","PTPN3","PTPRC","PTRH2","PUS7","PYGL","RAB27A","RABL3","RAC2","RAD51","RAD51C","RAF1","RAG1","RAG2","RASA2","RASGRP1","RBCK1","RBM8A","RBPJ","RECQL4","REL","RELA","RERE","REST","RFC2","RFT1","RFWD3","RFX5","RFX6","RFXANK","RFXAP","RHAG","RHBDF2","RHCE","RHD","RINT1","RIPK1","RIT1","RMND1","RMRP","RNASEH2A","RNASEH2B","RNASEH2C","RNF43","RNU4ATAC","RNU7-1","RORC","RPGRIP1","RPGRIP1L","RPS20","RRAS","RRAS2","RREB1","RRM2B","RTEL1","RTL1","RUNX1","SAA1","SAMHD1","SAR1B","SASH3","SBDS","SC5D","SCAPER","SCARB2","SCLT1","SCN4A","SCNN1A","SCNN1B","SCNN1G","SCO1","SCO2","SCYL1","SDCCAG8","SDHA","SDHB","SDHC","SDHD","SEC23B","SEC24C","SEC63","SEMA4A","SEMA4D","SEMA7A","SERPINA1","SERPINC1","SETBP1","SETD2","SF3B1","SFTPA2","SFTPC","SGSH","SH2D1A","SHPK","SKI","SKIC2","SKIC3","SLC10A1","SLC11A1","SLC11A2","SLC16A2","SLC17A5","SLC20A2","SLC22A5","SLC25A1","SLC25A13","SLC25A15","SLC25A19","SLC25A20","SLC25A4","SLC26A4","SLC26A9","SLC29A3","SLC2A1","SLC2A2","SLC30A10","SLC34A2","SLC35C1","SLC37A4","SLC38A3","SLC39A4","SLC39A7","SLC39A8","SLC40A1","SLC44A1","SLC4A1","SLC51A","SLC51B","SLC5A5","SLC6A14","SLC7A7","SLC9A3","SLCO1B1","SLCO1B3","SLCO2A1","SLX4","SMAD4","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SMPD1","SNX10","SNX14","SOCS1","SON","SOS1","SOS2","SOX10","SOX11","SOX4","SP110","SPEN","SPI1","SPIB","SPINK1","SPOP","SPRED2","SPRTN","SPTA1","SPTB","SPTBN1","SRP54","SRSF2","STAT1","STAT3","STAT4","STAT6","STEAP3","STK11","STN1","STOX1","STX11","STX1A","STXBP2","SUCLG1","SUMF1","SUPT16H","SURF1","SYK","TALDO1","TARS2","TBL2","TBX1","TBX19","TCF3","TCF4","TCIRG1","TCN2","TCTN1","TCTN2","TCTN3","TERC","TERT","TET2","TF","TFAM","TFE3","TFR2","TG","TGFB1","TGFBR2","TIMMDC1","TINF2","TJP2","TKFC","TKT","TLR8","TMEM107","TMEM126B","TMEM165","TMEM199","TMEM216","TMEM231","TMEM237","TMEM270","TMEM67","TMEM70","TMPRSS6","TNFRSF11A","TNFRSF13B","TNFRSF13C","TNFRSF1A","TNFRSF1B","TNFSF11","TNFSF12","TNFSF15","TNNI3","TNNT2","TNPO3","TOGARAM1","TOM1","TP53","TPI1","TPO","TPP2","TRAC","TRAF3IP1","TRAF3IP2","TRAPPC11","TREX1","TRHR","TRIM28","TRIM32","TRIM37","TRIP13","TRMT5","TRMU","TRPV6","TSC1","TSC2","TSFM","TSHB","TSHR","TTC21B","TTC26","TTC7A","TTC8","TUFM","TULP3","TWNK","TXNDC15","TYMP","TYMS","UBE2T","UBE4B","UBR1","UCP2","UFD1","UGT1A1","UNC13D","UNC45A","UQCRB","UQCRFS1","UROD","UROS","USB1","USP18","USP53","USP9X","VCP","VHL","VIPAS39","VPS11","VPS13A","VPS33A","VPS33B","VPS37D","VPS45","VPS4A","VPS50","WDPCP","WDR19","WDR35","WRAP53","WT1","XIAP","XK","XPR1","XRCC2","XRCC4","XYLT1","YARS1","YARS2","ZAP70","ZFTA","ZFYVE19","ZIC3","ZNF699","ZNFX1","ZPR1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CIRRHOSIS":{"collection":"C5:HPO","systematicName":"M35269","pmid":"","exactSource":"HP:0001394","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001394","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CIRRHOSIS","geneSymbols":["ABCB11","ABCB4","ABHD5","ACVRL1","AGPAT2","ALDOB","ALMS1","AP1B1","AP1S1","APC","APOE","ARG1","ARHGAP31","ASS1","ATP6AP1","ATP6AP2","ATP7B","ATP8B1","AXIN1","BCS1L","BMP2","BMP6","BSCL2","CALR","CASP8","CAV1","CAVIN1","CC2D2A","CCDC115","CD40LG","CEACAM3","CEACAM6","CFTR","CLCA4","COG4","COG6","CP","CTC1","CTNNB1","CYP7B1","DCDC2","DCTN4","DGUOK","DHCR7","DKC1","DLL4","DOCK6","EDNRA","ENG","EOGT","F5","FAH","FARSB","FCGR2A","FECH","FOS","GALT","GBA1","GBE1","GCLC","GDF2","GLRX5","GPR35","GSTM3","HAMP","HBB","HFE","HJV","HMOX1","HSD3B7","IFT43","IGF2R","IL12A","IL12RB1","IL21R","INPP5E","IRF5","ITCH","JAG1","JAK2","KCNN4","KIF12","KIF3B","KRT18","LBR","LIG3","LIPA","MARS1","MED12","MET","MIF","MMEL1","MPI","MPV17","MST1","MTTP","MUC5B","NGLY1","NHP2","NOP10","NOTCH1","NPHP3","NPM1","NR1H4","PARN","PDGFRL","PEX1","PHKA2","PHKB","PHKG2","PIGA","PIK3CA","PKHD1","POLG","POU2AF1","PPARG","PRIM1","PYGL","RBPJ","RPGRIP1L","RRM2B","RTEL1","SCARB2","SEMA4D","SERPINA1","SFTPA2","SFTPC","SKIC2","SKIC3","SLC11A1","SLC25A13","SLC26A9","SLC30A10","SLC40A1","SLC6A14","SLC7A7","SLC9A3","SMAD4","SMPD1","SPIB","STX1A","TALDO1","TCF4","TERC","TERT","TFAM","TFR2","TGFB1","TINF2","TJP2","TMEM67","TNFSF15","TNPO3","TP53","TREX1","TRMT5","TTC26","TULP3","TYMP","TYMS","UROD","USB1","WRAP53","YARS1","ZFYVE19"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HEPATIC_FIBROSIS":{"collection":"C5:HPO","systematicName":"M35270","pmid":"","exactSource":"HP:0001395","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001395","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEPATIC_FIBROSIS","geneSymbols":["ABCB4","ABCD3","ACADVL","AGL","ALG9","ALMS1","ANKS6","AP1S1","ARHGAP31","ARL6","ASAH1","ASL","ATP6AP1","B9D1","B9D2","BBIP1","BBS1","BBS10","BBS12","BBS2","BBS4","BBS5","BBS7","BBS9","BCS1L","CC2D2A","CCDC28B","CEP164","CEP19","CEP290","CFAP418","CLDN1","CP","CSPP1","CTNNB1","CYP7B1","DCDC2","DGUOK","DLL4","DNASE2","DOCK6","DPM1","DYNC2H1","DYNC2I1","DYNC2I2","DZIP1L","EOGT","FADD","GBA1","GLIS3","GPD1","GPR35","HAMP","HBB","HJV","IARS1","IFT122","IFT140","IFT172","IFT27","IFT74","IFT80","IL12A","IL12RB1","INPP5E","INSR","INVS","IQCB1","IRF5","KIF12","KIF3B","LIPA","LZTFL1","MARS1","MED12","MET","MKKS","MKS1","MMEL1","MPI","MST1","MTTP","NEK1","NEK8","NGLY1","NHP2","NOP10","NOTCH1","NPHP1","NPHP3","NPHP4","OFD1","PEX1","PHKA2","PHKB","PHKG2","PKHD1","PLIN1","PMM2","PNPLA6","POU2AF1","PRIM1","PTRH2","PYGL","RBCK1","RBPJ","RINT1","RNU7-1","RPGRIP1","RPGRIP1L","SCAPER","SCLT1","SCYL1","SDCCAG8","SEMA4D","SKIC2","SKIC3","SLC25A13","SLC51A","SLC51B","SPIB","STN1","TALDO1","TCF4","TCTN1","TCTN2","TCTN3","TERT","TMEM107","TMEM216","TMEM231","TMEM237","TMEM67","TNFSF15","TNPO3","TRAF3IP1","TRIM32","TTC26","TTC8","TULP3","TXNDC15","UBR1","UNC45A","USP53","WDPCP","WDR19","WDR35"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CHOLESTASIS":{"collection":"C5:HPO","systematicName":"M35271","pmid":"","exactSource":"HP:0001396","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001396","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHOLESTASIS","geneSymbols":["ABCB11","ABCB4","ABCC2","ABCD1","ABCD3","ACADVL","ADAMTS13","ADAR","ADK","AGR2","AKR1D1","ALDOA","ALDOB","ALG6","ALG8","AMACR","ANK1","ANKS6","AP1B1","AP1S1","APC2","APOA1","ARG1","ARL13B","ASAH1","ATP11C","ATP6AP1","ATP6AP2","ATP7A","ATP7B","ATP8B1","B2M","BAAT","BCAP31","BCS1L","BLVRA","BRCA1","BRCA2","CA5A","CALR","CASK","CASR","CCDC115","CDAN1","CDIN1","CDKN1B","CDKN2A","CEP83","CFTR","CLDN1","COG6","COG7","COX4I2","CPA1","CPOX","CTCF","CTRC","CYP27A1","CYP7A1","CYP7B1","DCDC2","DEF6","DGUOK","DHCR7","DHFR","DNASE2","DPAGT1","DUOX2","DUOXA2","DZIP1L","EARS2","EIF2AK3","EPB41","EPB42","EPCAM","ETFA","ETFB","ETFDH","F5","FARSB","FCGR3B","FGA","FH","FLI1","FOCAD","G6PD","GALE","GALK1","GALM","GALT","GCLC","GFM1","GH1","GLIS3","GLRX5","GNAS","GNB2","GPI","GPR35","GYPC","HADHA","HADHB","HBB","HBG2","HESX1","HK1","HMGCL","HNF1B","HSD17B4","HSD3B7","HTRA2","HYOU1","IARS1","IER3IP1","IFIH1","IFT140","IFT172","IL12A","IL12RB1","IL18BP","IL2RG","INSR","IRF5","IYD","JAG1","JAK2","KCNN4","KIF12","KIF23","KMT2D","KMT2E","KRAS","KRT18","KYNU","LBR","LHX3","LHX4","LIPA","LPL","LSM11","LYST","LYZ","MARS1","MED12","MMACHC","MMEL1","MPV17","MST1","MYO5B","NAA10","NBAS","NEK8","NEUROG3","NKX2-5","NOTCH2","NPC1","NPC2","NPHP3","NR1H4","NSD1","OCLN","PALB2","PALLD","PARS2","PAX8","PCSK1","PEPD","PERCC1","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PFKM","PGM1","PHKA2","PHKG2","PIEZO1","PIGA","PKD2","PKHD1","PKLR","POLG","POLG2","POMC","POU1F1","POU2AF1","PRF1","PRKAR1A","PROP1","PRPS1","PRSS1","PRSS2","PTPN3","RAB27A","RABL3","RBCK1","RFX6","RHAG","RHCE","RHD","RINT1","RNASEH2A","RNASEH2B","RNASEH2C","RNU4ATAC","RNU7-1","SAA1","SAMHD1","SC5D","SEC23B","SEMA4D","SERPINA1","SETD2","SHPK","SKIC3","SLC10A1","SLC16A2","SLC25A13","SLC26A4","SLC2A1","SLC2A2","SLC30A10","SLC37A4","SLC44A1","SLC4A1","SLC51A","SLC51B","SLC5A5","SLCO1B1","SLCO1B3","SMAD4","SMPD1","SP110","SPIB","SPINK1","SPOP","SPTA1","SPTB","SPTBN1","STX11","STXBP2","TBX19","TCF4","TFAM","TG","TJP2","TMEM67","TMPRSS6","TNFSF15","TNPO3","TP53","TPI1","TPO","TRAF3IP1","TREX1","TRHR","TRMU","TSHB","TSHR","TTC26","TULP3","UBR1","UGT1A1","UNC13D","UNC45A","UROS","USP53","VIPAS39","VPS33B","VPS50","WDR35","YARS1","ZFYVE19","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HEPATIC_FAILURE":{"collection":"C5:HPO","systematicName":"M35272","pmid":"","exactSource":"HP:0001399","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001399","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEPATIC_FAILURE","geneSymbols":["ABCD3","ACAD9","ACTG2","ACVRL1","AKR1D1","ALDOB","ALMS1","AMACR","ASAH1","ATP7B","ATRX","BAAT","BMP6","BTNL2","CACNA1S","CALR","CC2D2A","CCDC115","CLDN1","COG4","COQ2","COX16","CPT1A","CPT2","CTC1","CYC1","CYP7B1","DAXX","DCDC2","DEF6","DGUOK","DKC1","DLD","EIF2AK3","ENG","EPM2A","F13A1","F13B","F5","FAH","FECH","FH","FOCAD","GALT","GBA1","GBE1","GDF2","GFM1","GPR35","H4C3","HADH","HADHA","HADHB","HFE","HLA-B","HLA-DRB1","HSD3B7","IARS1","IFT122","IFT172","IKZF1","IL12A","IL12RB1","IL18BP","IL21R","INPP5E","IRF5","ITCH","JAG1","JAK2","KRT18","LARS1","LIPA","MARS1","MED12","MEFV","MMEL1","MPI","MPV17","MRM2","MRPS7","MST1","MT-ATP6","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND5","MT-ND6","MT-TK","MT-TL1","MT-TT","MT-TV","MT-TW","NBAS","NDUFS4","NHLRC1","NHP2","NOP10","NPC1","NPM1","NR1H4","OSTM1","OTC","P4HA2","PARN","PCK1","PCK2","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PIGA","POLG","POLG2","PORCN","POU2AF1","PTPN22","RBM10","RINT1","RPGRIP1L","RTEL1","RYR1","SC5D","SCYL1","SEMA4D","SERPINA1","SH2D1A","SKIC3","SLC25A15","SLC25A20","SLC2A2","SLC7A7","SMAD4","SMPD1","SP110","SPIB","TCF4","TERC","TERT","TFAM","TINF2","TJP2","TMEM67","TNFSF15","TNPO3","TRMU","TYMS","UBR1","UGT1A1","USB1","WRAP53","XIAP","ZNFX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HEPATOCELLULAR_CARCINOMA":{"collection":"C5:HPO","systematicName":"M35273","pmid":"","exactSource":"HP:0001402","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001402","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEPATOCELLULAR_CARCINOMA","geneSymbols":["ABCB11","ABCB4","AHCY","APC","ATP7B","AXIN1","BMP2","BMP6","BMPR1A","BTK","CASP10","CASP8","CPOX","CTNNB1","EPCAM","F5","FAH","FAN1","FAS","FASLG","G6PC1","GIMAP5","GPR35","HBB","HFE","HMBS","IGF2","IGF2R","IL12A","IL12RB1","IRF5","JAG1","JAK2","KRAS","MET","MLH1","MLH3","MMEL1","MPV17","MSH2","MSH6","MST1","PDE11A","PDGFRL","PHKB","PIK3CA","PMS1","PMS2","POU2AF1","PPOX","PRKAR1A","PRKCD","PYGL","RASGRP1","RPS20","SEMA4A","SEMA4D","SERPINA1","SLC25A13","SLC2A2","SLC37A4","SPIB","SPRTN","TCF4","TGFBR2","TJP2","TNFSF15","TNPO3","TP53","TULP3","UROD"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MACROVESICULAR_HEPATIC_STEATOSIS":{"collection":"C5:HPO","systematicName":"M35274","pmid":"","exactSource":"HP:0001403","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001403","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MACROVESICULAR_HEPATIC_STEATOSIS","geneSymbols":["CPT2","CYP7A1","DOCK2","EARS2","LIG3","LYRM4","MICOS13","MPV17","MTX2","NAA10","NDUFAF1","POLG","RRM2B","SLC25A13","TRMU","TYMP","VPS33A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PERIPORTAL_FIBROSIS":{"collection":"C5:HPO","systematicName":"M41235","pmid":"","exactSource":"HP:0001405","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001405","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERIPORTAL_FIBROSIS","geneSymbols":["ACADVL","ALG9","ANKS6","BCS1L","DGUOK","DZIP1L","LIPA","PKHD1","SLC51A","SLC51B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HEPATIC_CYSTS":{"collection":"C5:HPO","systematicName":"M35277","pmid":"","exactSource":"HP:0001407","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001407","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEPATIC_CYSTS","geneSymbols":["ALG5","ALG8","ALG9","BICC1","CC2D2A","DNAJB11","EXTL3","GANAB","IFNG","IFT122","IFT140","JAK1","LRP5","NEK8","NPHP3","OFD1","PKD1","PKD2","PKHD1","SEC63","TSC1","TSC2","TTC21B","WDR19"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BILE_DUCT_PROLIFERATION":{"collection":"C5:HPO","systematicName":"M35278","pmid":"","exactSource":"HP:0001408","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001408","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BILE_DUCT_PROLIFERATION","geneSymbols":["ABCB4","CC2D2A","CEP290","CLDN1","CYP7B1","DCDC2","FARSB","HSD17B4","KIF12","MED12","MICOS13","MKS1","NPHP3","PHKG2","POLG","RPGRIP1L","SLC37A4","TMEM216","TMEM67","TTC26","WDR35"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MICRONODULAR_CIRRHOSIS":{"collection":"C5:HPO","systematicName":"M35279","pmid":"","exactSource":"HP:0001413","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001413","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MICRONODULAR_CIRRHOSIS","geneSymbols":["ABHD5","APC","ARG1","ATP6AP2","AXIN1","CASP8","CTNNB1","DGUOK","IGF2R","KIF3B","KRT18","MET","MPV17","NGLY1","PDGFRL","PIGA","PIK3CA","POLG","SLC30A10","TALDO1","TP53","TREX1","ZFYVE19"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MICROVESICULAR_HEPATIC_STEATOSIS":{"collection":"C5:HPO","systematicName":"M35280","pmid":"","exactSource":"HP:0001414","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001414","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MICROVESICULAR_HEPATIC_STEATOSIS","geneSymbols":["ACAD9","BCS1L","CARS2","DNAJC19","LRPPRC","LYRM4","MPV17","MRPL44","NAA10","NGLY1","NHLRC2","PIGA","POLG","POLG2","SLC22A5","SLC25A13","TFAM","TRMU","UNC45A","VPS4A","YARS1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_X_LINKED_INHERITANCE":{"collection":"C5:HPO","systematicName":"M46064","pmid":"","exactSource":"HP:0001417","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001417","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_X_LINKED_INHERITANCE","geneSymbols":["ABCB7","ABCD1","ACSL4","ADGRG2","AFF2","AIFM1","AIPL1","ALAS2","ALG13","AMELX","AMER1","AMMECR1","ANOS1","AP1S2","AR","ARHGEF9","ARL6","ARR3","ARSL","ARX","ATP11C","ATP2B3","ATP6AP1","ATP6AP2","ATP7A","ATRX","AVPR2","BCAP31","BCOR","BCORL1","BGN","BMP15","BRWD3","BTK","CACNA1F","CASK","CCDC22","CCNQ","CD40LG","CDKL5","CFAP418","CFAP47","CFP","CHM","CHRDL1","CLCN4","CLCN5","CLDN2","CLIC2","CLRN1","CNGA1","CNKSR2","COL4A5","COL4A6","COX7B","CRB1","CRX","CSF2RA","CT55","CUL4B","CYBB","DCX","DDX3X","DIAPH2","DKC1","DLG3","DMD","DNAAF6","EBP","EDA","EFNB1","EIF2S3","ELF4","EMD","F8","F9","FAM50A","FANCB","FGD1","FGF13","FGF16","FHL1","FLNA","FMR1","FOXP3","FRMD7","FRMPD4","FTSJ1","G6PD","GABRA3","GATA1","GCNA","GDI1","GJB1","GJB2","GJB6","GK","GLA","GLRA2","GPC3","GPC4","GPR101","GPR143","GPRASP2","GRIA3","HCCS","HCFC1","HDAC6","HDAC8","HMGB3","HNRNPH2","HPRT1","HS6ST2","HSD17B10","HUWE1","IDS","IGBP1","IGSF1","IKBKG","IL1RAPL1","IL2RG","IQSEC2","IRS4","KDM5C","KDM6A","KIF4A","KLHL15","L1CAM","LAGE3","LAMP2","LAS1L","LRAT","MAGED2","MAGT1","MAMLD1","MAOA","MBTPS2","MECP2","MED12","MID1","MID2","MSL3","MSN","MTM1","NAA10","NDP","NDUFA1","NDUFB11","NEXMIF","NHS","NKAP","NLGN3","NLGN4X","NONO","NR0B1","NSDHL","NYX","OCRL","OFD1","OGT","OPHN1","OPN1LW","OPN1MW","OTC","OTUD5","PAK3","PCDH19","PDE6G","PDHA1","PDK3","PGK1","PHEX","PHF6","PHF8","PHKA1","PHKA2","PIGA","PLP1","POF1B","POLA1","PORCN","POU3F4","PQBP1","PRICKLE3","PRPS1","PTCHD1","RAB39B","RBM10","RBMX","RBP3","RLIM","RNF113A","ROM1","RP2","RPGR","RPL10","RPS6KA3","RS1","SASH3","SH2D1A","SH3KBP1","SHOX","SLC16A2","SLC35A2","SLC6A8","SLC9A6","SLC9A7","SLITRK2","SMC1A","SMPX","SMS","SOX3","SRY","SSR4","SSX1","STAG2","STEEP1","STS","SYN1","SYP","TAF1","TAFAZZIN","TBC1D8B","TBL1X","TBX22","TCEAL1","TEX11","TFE3","THOC2","TIMM8A","TLR7","TLR8","TMLHE","TRAPPC2","TSPAN7","TSR2","UBA1","UBE2A","UBQLN2","UPF3B","USP26","USP27X","USP9X","VMA21","WAS","WDR45","XIAP","XK","ZC4H2","ZDHHC9","ZIC3","ZNF711"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_X_LINKED_RECESSIVE_INHERITANCE":{"collection":"C5:HPO","systematicName":"M35281","pmid":"","exactSource":"HP:0001419","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001419","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_X_LINKED_RECESSIVE_INHERITANCE","geneSymbols":["ABCB7","ABCD1","AFF2","AIFM1","AIPL1","ALAS2","AMMECR1","ANOS1","AP1S2","AR","ARHGEF9","ARL6","ARSL","ARX","ATP11C","ATP2B3","ATP6AP1","ATP6AP2","ATP7A","ATRX","AVPR2","BCAP31","BCORL1","BGN","BRWD3","BTK","CACNA1F","CCDC22","CD40LG","CFAP418","CFAP47","CFP","CHRDL1","CLCN5","CLDN2","CLIC2","CLRN1","CNGA1","COL4A6","CRX","CUL4B","CYBB","DDX3X","DKC1","DLG3","DMD","DNAAF6","EBP","EDA","EIF2S3","ELF4","EMD","F8","F9","FAM50A","FANCB","FGD1","FGF13","FGF16","FHL1","FLNA","FOXP3","FRMPD4","FTSJ1","GATA1","GJB2","GJB6","GK","GLA","GPC3","GPC4","GPR143","GPRASP2","GRIA3","HCFC1","HPRT1","HS6ST2","IDS","IGBP1","IGSF1","IKBKG","IL1RAPL1","IL2RG","IQSEC2","IRS4","KDM5C","KIF4A","KLHL15","L1CAM","LAGE3","LAS1L","LRAT","MAGED2","MAGT1","MAMLD1","MAOA","MBTPS2","MECP2","MED12","MID1","MID2","MSN","MTM1","NAA10","NDP","NDUFA1","NKAP","NONO","NR0B1","NSDHL","NYX","OCRL","OFD1","OGT","OPHN1","OPN1LW","OPN1MW","OTC","OTUD5","PAK3","PDE6G","PGK1","PHF6","PHF8","PHKA1","PHKA2","PIGA","PLP1","POF1B","POLA1","POU3F4","PQBP1","PRPS1","PTCHD1","RAB39B","RBM10","RBMX","RBP3","RLIM","ROM1","RPGR","RPL10","RS1","SASH3","SH2D1A","SH3KBP1","SLC16A2","SLC6A8","SLC9A6","SLC9A7","SMC1A","SMPX","SMS","SSR4","STAG2","STS","SYN1","SYP","TAF1","TAFAZZIN","TEX11","THOC2","TIMM8A","TLR7","TMLHE","TRAPPC2","TSPAN7","TSR2","UBA1","UBE2A","UPF3B","USP27X","USP9X","VMA21","WAS","XIAP","ZC4H2","ZIC3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_MUSCULATURE_OF_THE_HAND":{"collection":"C5:HPO","systematicName":"M35282","pmid":"","exactSource":"HP:0001421","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001421","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_MUSCULATURE_OF_THE_HAND","geneSymbols":["AAAS","ACTA1","ADA2","AGRN","AK9","ALS2","BICD2","BSCL2","CADM3","CAV3","CHCHD10","CHRNA1","CHRNB1","CHRND","CHRNE","COL13A1","COLQ","COMP","DCTN1","DOK7","DYSF","EIF4A3","EMILIN1","FBXO38","FBXW11","FGD4","FGFR2","FLNA","FLNC","FXN","GARS1","GATA1","GBF1","GDAP1","GJB1","GMPPA","GNE","GYG1","HARS1","HEATR3","HINT1","HOXA13","HSPB3","IDUA","ITPR3","JAG1","KANSL1","KIF1A","KLHL9","LAMB2","LDB3","LMNA","LRP4","MAP3K7","MARS1","MATR3","MB","MFN2","MORC2","MPZ","MUSK","MYH7","NEB","NEFL","NGLY1","PDK3","PLOD3","PMP22","PNPLA2","POLG","PRX","RAD51C","RAPSN","REEP1","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS7","RYR1","SALL4","SBF2","SCN4A","SIGMAR1","SLC12A6","SLC25A21","SLC39A13","SLC52A3","SLC5A6","SPG11","SPTLC1","SQSTM1","STIM1","SVBP","TBX5","TFG","TIA1","TIMM8A","TK2","TRAPPC11","TRIM2","TRPV4","TSR2","TTN","VCP","YARS1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_X_LINKED_DOMINANT_INHERITANCE":{"collection":"C5:HPO","systematicName":"M35283","pmid":"","exactSource":"HP:0001423","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001423","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_X_LINKED_DOMINANT_INHERITANCE","geneSymbols":["ACSL4","ALAS2","AMELX","AMER1","ATRX","BCOR","CASK","CCNQ","CDKL5","CLCN4","COL4A5","COX7B","DDX3X","DIAPH2","EBP","EDA","EFNB1","F8","FHL1","FLNA","FMR1","G6PD","GDI1","GJB1","GPR101","HCCS","HDAC6","HDAC8","HNRNPH2","HSD17B10","IKBKG","IQSEC2","KDM6A","LAMP2","MECP2","MED12","MSL3","NAA10","NDUFB11","NEXMIF","NHS","NSDHL","OFD1","PDHA1","PDK3","PHEX","PORCN","RNF113A","RPS6KA3","SLC35A2","SMC1A","SMPX","SRY","SYN1","TCEAL1","TLR7","UBQLN2","USP9X","WDR45","ZC4H2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NON_MENDELIAN_INHERITANCE":{"collection":"C5:HPO","systematicName":"M35285","pmid":"","exactSource":"HP:0001426","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001426","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NON_MENDELIAN_INHERITANCE","geneSymbols":["A2ML1","ABCG8","ADD1","ADH1B","ADH1C","ADH5","ADRB3","AGRP","AGT","AGTR1","ALOX5","ALOX5AP","APOL1","ATP1B1","BAX","BCR","BMP4","BRCA1","CARTPT","CCL11","CFH","COL2A1","CST3","CYP3A5","DNMT3B","DYNC2H1","ECE1","ENPP1","F2","F5","FKBP5","FLRT3","FLT3","FRZB","GABRA2","GDF3","GDF6","GHRL","GJB2","GJB3","GJB6","GNB1","GNB3","HLA-B","HLA-C","HLA-DQA1","HLA-DQB1","HLA-DRB1","HLA-G","HNMT","HTR2A","HTRA1","IL13","IL6","IRF6","LRIF1","MUC7","NBN","NEK1","NLGN4X","NLRP1","NOD2","NOS3","NR0B2","NUP214","PAX4","PDCD1","PLA2G7","POMC","PPARG","PRKCH","PTGIS","RGS5","SCGB3A2","SCN5A","SDC3","SERPINH1","SLCO1B1","SLCO1B3","SLITRK1","SMCHD1","SNRPN","STOX1","TAL1","TAL2","TAS2R16","TNF","TP53","TPH2","TYMS","UCP3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MITOCHONDRIAL_INHERITANCE":{"collection":"C5:HPO","systematicName":"M35286","pmid":"","exactSource":"HP:0001427","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001427","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MITOCHONDRIAL_INHERITANCE","geneSymbols":["BCS1L","FDX2","MT-ATP6","MT-CO1","MT-CO2","MT-CO3","MT-CYB","MT-ND1","MT-ND2","MT-ND4","MT-ND4L","MT-ND5","MT-ND6","MT-TC","MT-TF","MT-TI","MT-TK","MT-TL1","MT-TN","MT-TP","MT-TQ","MT-TS1","MT-TS2","MT-TT","MT-TV","MT-TW","NDUFS4","SURF1","TRMU"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_CALF_MUSCULATURE":{"collection":"C5:HPO","systematicName":"M35288","pmid":"","exactSource":"HP:0001430","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001430","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_CALF_MUSCULATURE","geneSymbols":["AAAS","ANO5","AR","BIN1","CAPN3","CAV3","CHCHD10","CIDEC","CRPPA","DAG1","DES","DHX16","DMD","DNM2","DPM3","DYSF","FBN2","FHL1","FKRP","FKTN","FLNC","FRG1","GMPPA","GMPPB","HINT1","KCNA1","KLHL9","LAMA2","LARGE1","LIMS2","LMNA","LTBP4","MAP3K20","MATR3","MICU1","MTMR14","MYF6","MYH7","NEB","PLEC","PLIN1","PMP22","PNPLA2","POMGNT1","POMGNT2","POMK","POMT1","POMT2","POPDC3","PPARG","REEP1","RYR1","SACS","SGCA","SGCB","SGCD","SGCG","SLC25A1","SMN1","SPG11","TCAP","TRAPPC11","TRIM32","TRPV4","TTN","UNC45B","VAPB","VPS13A","WASHC5"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HEPATOSPLENOMEGALY":{"collection":"C5:HPO","systematicName":"M35289","pmid":"","exactSource":"HP:0001433","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001433","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEPATOSPLENOMEGALY","geneSymbols":["ABCA1","ABCA12","ADA2","ADAR","ALG9","ALMS1","ANKRD55","AP3B1","ASAH1","ASXL1","BRCA1","BRCA2","CA2","CALR","CAV1","CBL","CCDC115","CD247","CD27","CD3D","CD3E","CD70","CDKN2A","CFTR","CLCN7","COG1","COG4","COG5","COG7","CTSA","CTSK","CYBC1","CYP7B1","DCDC2","DDRGK1","DLK1","DNASE2","DPM1","DZIP1L","FARSA","FCGR2A","FERMT3","FGFR2","G6PC3","GALK1","GBA1","GBE1","GCLC","GLB1","GLRX5","GNB2","GNE","GNPTAB","GPR35","HAVCR2","HBB","HEXB","IARS1","IDS","IDUA","IFIH1","IFNG","IFNGR1","IFT140","IKBKG","IL2RA","IL2RB","IL6ST","IL7R","ITCH","JAK1","JAK2","JAK3","KIF3B","KLF1","KPTN","KRAS","LBR","LIPA","LPIN2","LPL","LSM11","LYST","MAN2B1","MECOM","MED12","MEG3","MOGS","MPL","MST1","MVK","NCKAP1L","NEU1","NHLRC2","NLRP3","NPHP3","OSTM1","PALB2","PALLD","PEX13","PEX2","PIK3CG","PKHD1","PLEKHM1","PRF1","PRKCD","PSTPIP1","PTPN2","PTPN22","PTPRC","RAB27A","RABL3","RAC2","RAG1","RAG2","RASGRP1","RBM8A","RHAG","RHCE","RHD","RNASEH2A","RNASEH2B","RNASEH2C","RNU4ATAC","RNU7-1","RTL1","RUNX1","SAMHD1","SC5D","SCYL1","SEMA4D","SLC25A13","SLC29A3","SLC2A1","SLC4A1","SLC7A7","SMAD4","SNX14","SOX10","SP110","SRSF2","STAT1","STAT3","STAT4","STEAP3","STXBP2","TALDO1","TCF4","TCIRG1","TET2","TFE3","TGFB1","TMEM67","TNFSF11","TOM1","TP53","TREX1","TULP3","UNC13D","VPS11","VPS33A","ZAP70","ZNF699","ZNFX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_SHOULDER_GIRDLE_MUSCULATURE":{"collection":"C5:HPO","systematicName":"M35290","pmid":"","exactSource":"HP:0001435","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001435","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_SHOULDER_GIRDLE_MUSCULATURE","geneSymbols":["ABHD5","ACTA1","AGRN","AK9","ALG14","ALG2","ALX1","ALX3","ANO5","ANXA11","ASH1L","ATP6V0A2","BAG3","BICD2","BIN1","BRAF","C19orf12","CAPN3","CCDC8","CFL2","CHRNA1","CHRNB1","CHRND","CHRNE","COL12A1","COL13A1","COL6A1","COL6A2","COL6A3","COLQ","CRPPA","CRYAB","CSGALNACT1","CUL7","DMD","DNA2","DNAJB6","DNM1L","DOK7","DPAGT1","DSTYK","DYSF","EMD","EMILIN1","EYA1","FBN1","FHL1","FKRP","FKTN","FLNA","FLNB","FLNC","FRG1","GALC","GDAP1","GDF11","GFPT1","GMPPB","GNE","GYG1","HACD1","HNRNPDL","ITGA7","KBTBD13","KCNJ2","KLHL41","LAMB2","LGI4","LMNA","LRIF1","LRP4","MAP3K20","MAP3K7","MATR3","MT-TE","MUSK","MYBPC1","MYH2","MYH7","MYL2","MYMK","MYMX","MYOT","MYPN","NEB","NEFL","OBSL1","OPA1","PAX1","PAX3","PLIN4","PLXND1","PNPLA2","POGLUT1","POLG","POLG2","POMT2","PRR12","PSAP","PTPN11","PUS1","PYROXD1","RAF1","RAPSN","RBM8A","REV3L","RRM2B","RYR1","RYR3","SALL4","SCN4A","SELENON","SEPTIN9","SGCA","SGCB","SGCD","SGCG","SLC25A4","SMCHD1","SMN1","SMN2","SMPX","SPEG","SPRED2","SPTLC1","SQSTM1","SYNE1","SYNE2","TBX3","TBX5","TGFB3","TK2","TMEM43","TNNT1","TNPO3","TPM2","TPM3","TRIM32","TRIO","TRPS1","TRPV4","TTN","TWNK","VCP","VWA1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_FOOT_MUSCULATURE":{"collection":"C5:HPO","systematicName":"M35291","pmid":"","exactSource":"HP:0001436","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001436","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_FOOT_MUSCULATURE","geneSymbols":["BIN1","BSCL2","DNM2","GNE","HNRNPDL","KLHL9","LMNA","MTMR14","MYF6","MYH7","RYR1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_MUSCULATURE_OF_THE_LOWER_LIMBS":{"collection":"C5:HPO","systematicName":"M35292","pmid":"","exactSource":"HP:0001437","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001437","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_MUSCULATURE_OF_THE_LOWER_LIMBS","geneSymbols":["AAAS","ABCD1","ADSS1","ANO10","ANO5","AR","ATP13A2","BIN1","BSCL2","CAPN3","CAV3","CHCHD10","CIDEC","CLCN1","CRPPA","CRYAB","DAG1","DARS2","DES","DHX16","DKK1","DMD","DNAJC6","DNM2","DPM3","DYNC1H1","DYSF","EMD","FBN2","FHL1","FKRP","FKTN","FLNC","FRG1","GMPPA","GMPPB","GNE","HACE1","HINT1","HNRNPDL","KCNA1","KIF1A","KIF5A","KLHL9","LAMA2","LARGE1","LDB3","LIMS2","LMNA","LMX1B","LTBP4","MAP3K20","MATR3","MICU1","MT-ATP6","MTMR14","MYF6","MYH7","NEB","NEFL","PI4KA","PLEC","PLIN1","PMP22","PNPLA2","PODXL","POMGNT1","POMGNT2","POMK","POMT1","POMT2","POPDC3","PPARG","RASA1","REEP1","RYR1","SACS","SGCA","SGCB","SGCD","SGCG","SLC25A1","SMN1","SMN2","SPAST","SPG11","SPTLC1","SRY","SYNE1","SYNE2","SYNJ1","TCAP","TMEM43","TRAPPC11","TRIM32","TRPV4","TTN","UNC45B","VAMP1","VAPB","VCP","VMA21","VPS13A","WASHC5","ZFYVE26"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_ABDOMEN_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M35293","pmid":"","exactSource":"HP:0001438","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001438","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ABDOMEN_MORPHOLOGY","geneSymbols":["ABCA1","ABCA12","ABCB11","ABCB4","ABCC2","ABCC6","ABCC8","ABCD3","ABCG8","ABHD5","ABL1","ACADM","ACADVL","ACAT1","ACOX1","ACTN4","ADA","ADA2","ADAMTS3","ADAMTSL2","ADAR","AFF4","AGA","AGGF1","AGL","AGPAT2","AGR2","AKR1D1","AKT1","AKT2","ALAS2","ALDH1A2","ALDOA","ALDOB","ALG1","ALG13","ALG2","ALG8","ALG9","ALMS1","ALPK1","AMACR","ANK1","ANKRD55","ANTXR1","AP3B1","AP3D1","APOA1","APOC2","APOE","ARG1","ARHGAP31","ARL13B","ARL6IP6","ARSB","ARVCF","ASAH1","ASL","ASS1","ASXL1","ATAD3A","ATM","ATP5F1A","ATP5F1D","ATP5F1E","ATP5MK","ATP6AP1","ATP6AP2","ATP6V1B2","ATP7B","ATP8B1","ATPAF1","ATPAF2","ATRX","AUH","B2M","B4GALT1","BAAT","BACH2","BAP1","BBS12","BCL11A","BCL2","BCL6","BCR","BMP2","BMP6","BOLA3","BPGM","BRAF","BRCA1","BRCA2","BSCL2","BTD","BTNL2","BUB1","BUB1B","BUB3","C1QBP","C2orf69","C4A","CA2","CALR","CARD11","CASK","CASP10","CASP8","CASR","CAV1","CAVIN1","CBL","CBS","CC2D2A","CCBE1","CCDC115","CCDC47","CCND1","CCR1","CD19","CD247","CD27","CD28","CD3D","CD3E","CD40LG","CD55","CD70","CD81","CD96","CDAN1","CDIN1","CDKN1C","CDKN2A","CEP57","CFAP410","CFTR","CHD7","CIDEC","CLCN7","CLDN1","CLPB","CNTNAP2","COA8","COG1","COG4","COG5","COG6","COG7","COL3A1","COMT","COX10","COX14","COX4I2","COX5A","CPOX","CPT1A","CPT2","CR2","CSF3R","CSPP1","CTC1","CTLA4","CTNNB1","CTNS","CTSA","CTSK","CYBA","CYBB","CYBC1","CYP7B1","DAXX","DCDC2","DCLRE1C","DDRGK1","DEF6","DGUOK","DHCR24","DHCR7","DHDDS","DHFR","DIS3L2","DKC1","DLD","DLK1","DLL4","DNAJC21","DNASE1L3","DNASE2","DOCK2","DOCK6","DPAGT1","DPM1","DPM2","DYNC2LI1","DZIP1L","EARS2","EFL1","EIF2AK3","EIF5A","ENPP1","EOGT","EPB41","EPB42","EPHB4","EPOR","ERAP1","ERBB3","ERCC1","ERCC4","ERCC6","ERCC8","ESCO2","ETFA","ETFB","ETFDH","EWSR1","EXTL3","F5","FAH","FAM111A","FAM111B","FARSA","FARSB","FAS","FASLG","FAT4","FBN1","FBP1","FCGR2A","FCHO1","FDX2","FERMT3","FGA","FGFR2","FH","FLI1","FLNC","FMO3","FOCAD","FOS","FOXP3","FOXRED1","FSHR","FUCA1","G6PC1","G6PC3","G6PD","GAA","GALE","GALK1","GALM","GALNS","GALT","GATA1","GATA2","GBA1","GBE1","GCDH","GCLC","GEMIN4","GFM1","GIMAP5","GLB1","GLIS3","GLRX5","GNA11","GNB2","GNE","GNMT","GNPTAB","GNS","GP1BA","GP1BB","GPC3","GPC4","GPD1","GPI","GPIHBP1","GPR35","GRIP1","GSN","GTF2H5","GUCY2D","GUSB","GYPC","HADHA","HAMP","HAVCR2","HBA1","HBA2","HBB","HBG1","HBG2","HCK","HEXB","HFE","HGSNAT","HIRA","HJV","HK1","HLA-B","HLA-DRB1","HMGCL","HMGCS2","HMOX1","HNF1A","HNF4A","HPGD","HSD17B4","HSD3B7","HYMAI","HYOU1","IARS1","ICOS","IDS","IDUA","IFIH1","IFNG","IFNGR1","IFT122","IFT140","IFT172","IGF2","IKBKG","IKZF3","IL10","IL12A","IL12A-AS1","IL12RB1","IL18BP","IL1RN","IL23R","IL2RA","IL2RB","IL2RG","IL6","IL6ST","IL7R","INPP5E","INPPL1","INSR","IRAK1","IRF2BP2","IRF4","IRF5","IRF8","ITCH","ITK","JAK1","JAK2","JAK3","JAM2","JAM3","JMJD1C","KCNH1","KCNJ11","KCNMA1","KCNN3","KCNN4","KCNQ1","KCNQ1OT1","KIF12","KIF1B","KIF20A","KIF3B","KIT","KLF1","KLRC4","KPTN","KRAS","KRT18","LACC1","LAMA5","LARS1","LARS2","LAT","LBR","LCAT","LCK","LIG4","LIPA","LIPE","LMBRD1","LMNA","LPIN2","LPL","LRBA","LRP5","LSM11","LTBP3","LTBP4","LYRM4","LYST","LYZ","LZTR1","MADD","MAGT1","MAN2B1","MAPK8IP3","MARS1","MCM4","MCOLN1","MDFIC","MECOM","MED12","MEFV","MEG3","MET","MFN2","MICU1","MIF","MKS1","MMAA","MMAB","MMEL1","MMUT","MOGS","MPC1","MPI","MPIG6B","MPL","MPV17","MRAS","MRPL3","MRPS22","MRPS28","MRPS7","MS4A1","MST1","MT-ATP6","MT-ATP8","MT-CYB","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND5","MT-ND6","MT-TE","MT-TK","MT-TL1","MT-TN","MT-TS1","MT-TV","MT-TW","MTO1","MTTP","MTX2","MVK","MYBPC3","MYD88","MYL2","MYO5B","MYORG","MYPN","NAB2","NAE1","NAGA","NAGLU","NAGS","NBEAL2","NCF1","NCF2","NCF4","NCKAP1L","NDUFA1","NDUFA11","NDUFA2","NDUFA6","NDUFAF1","NDUFAF2","NDUFAF3","NDUFAF4","NDUFAF5","NDUFAF8","NDUFB10","NDUFB11","NDUFB3","NDUFB9","NDUFS1","NDUFS2","NDUFS3","NDUFS4","NDUFS6","NDUFS7","NDUFS8","NDUFV1","NDUFV2","NEK8","NEU1","NFKB1","NFKB2","NFKBIA","NGLY1","NHLRC2","NHP2","NIPBL","NLRC4","NLRP1","NLRP12","NLRP3","NOD2","NOP10","NOTCH1","NOTCH2","NPC1","NPC2","NPHP3","NPM1","NR1H4","NRAS","NSD2","NUBPL","OAS1","OCLN","OSTM1","OTC","OTUD5","PALB2","PALLD","PARN","PC","PCCA","PCCB","PCK1","PDGFB","PDGFRA","PDGFRB","PEPD","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PEX7","PGM1","PHKA2","PHKB","PHKG2","PHYH","PIBF1","PIEZO1","PIGA","PIGL","PIGM","PIGS","PIK3C2A","PIK3CA","PIK3CD","PIK3CG","PIK3R1","PKD2","PKHD1","PKLR","PLAGL1","PLEKHM1","PLVAP","PMM2","PNP","PNPLA2","POLD1","POLG","POLG2","POU2AF1","PPARG","PPP1R21","PRF1","PRG4","PRKAG2","PRKAR1A","PRKCD","PRKCSH","PSAP","PSMB10","PSMB4","PSMB8","PSMB9","PSMG2","PSTPIP1","PTEN","PTH1R","PTPN11","PTPN2","PTPN22","PTPRC","PTRH2","PUS7","PYGL","RAB27A","RABL3","RAC2","RAF1","RAG1","RAG2","RASA2","RASGRP1","RBCK1","RBM8A","RBPJ","REL","RFT1","RFX6","RHAG","RHBDF2","RHCE","RHD","RINT1","RIPK1","RIT1","RMND1","RMRP","RNASEH2A","RNASEH2B","RNASEH2C","RNU4ATAC","RNU7-1","RORC","RPGRIP1L","RRAS","RRAS2","RREB1","RTEL1","RTL1","RUNX1","SAA1","SAMD9L","SAMHD1","SASH3","SAT1","SBDS","SC5D","SCARB2","SCN4A","SCO1","SCO2","SCYL1","SDHD","SEC23B","SEC24C","SEC63","SEMA4D","SEMA7A","SERPINA1","SF3B1","SGSH","SH2B3","SH2D1A","SKIC2","SKIC3","SLC17A5","SLC20A2","SLC22A5","SLC25A1","SLC25A13","SLC25A15","SLC25A19","SLC25A20","SLC29A3","SLC2A1","SLC2A2","SLC30A10","SLC34A2","SLC35C1","SLC37A4","SLC38A3","SLC39A4","SLC40A1","SLC4A1","SLC7A7","SLCO2A1","SMAD3","SMAD4","SMPD1","SNX10","SNX14","SOCS1","SOS1","SOS2","SOX10","SOX18","SP110","SPIB","SPP1","SPRED2","SPTA1","SPTB","SPTBN1","SRP54","SRSF2","STAT1","STAT3","STAT4","STAT6","STEAP3","STX11","STXBP2","SUCLG1","SUMF1","SURF1","SYK","TALDO1","TAPT1","TBX1","TBXAS1","TCF3","TCF4","TCIRG1","TCN2","TERC","TERT","TET2","TFAM","TFAP2A","TFE3","TGFB1","THPO","THSD1","TIMMDC1","TINF2","TKFC","TKT","TLR4","TLR8","TMEM126B","TMEM165","TMEM67","TMEM70","TNFRSF11A","TNFRSF13B","TNFRSF13C","TNFRSF1A","TNFRSF1B","TNFRSF4","TNFRSF9","TNFSF11","TNFSF12","TNFSF15","TNNI3","TNNT2","TNPO3","TOGARAM1","TOM1","TP53","TPI1","TPP2","TRAC","TRAPPC11","TREX1","TRIM37","TRIP13","TRMU","TRNT1","TRPV6","TSC1","TSC2","TSFM","TTC26","TUFM","TULP3","TYMS","UBAC2","UBR1","UCP2","UFD1","UMPS","UNC13D","UQCRB","UROD","UROS","USB1","USP18","USP53","VIPAS39","VPS11","VPS13A","VPS33A","VPS33B","VPS45","VPS4A","WDR1","WDR19","WDR35","WRAP53","WT1","XIAP","XK","XPR1","XRCC4","XYLT1","YARS1","YARS2","YME1L1","ZAP70","ZFYVE19","ZIC3","ZNF699","ZNFX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_METATARSAL_SYNOSTOSIS":{"collection":"C5:HPO","systematicName":"M43261","pmid":"","exactSource":"HP:0001440","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001440","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_METATARSAL_SYNOSTOSIS","geneSymbols":["FBLN1","FGF9","HOXD13","MAP3K20","POR","SALL1","SLC26A2","SMOC1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_MUSCULATURE_OF_THE_THIGH":{"collection":"C5:HPO","systematicName":"M35294","pmid":"","exactSource":"HP:0001441","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001441","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_MUSCULATURE_OF_THE_THIGH","geneSymbols":["ADSS1","ANO5","DYNC1H1","EMD","FHL1","HNRNPDL","LMNA","LMX1B","NEFL","REEP1","RYR1","SGCD","SMN1","SMN2","SPG11","SPTLC1","SYNE1","SYNE2","TMEM43","TRPV4","VMA21"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_TYPIFIED_BY_SOMATIC_MOSAICISM":{"collection":"C5:HPO","systematicName":"M35295","pmid":"","exactSource":"HP:0001442","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001442","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TYPIFIED_BY_SOMATIC_MOSAICISM","geneSymbols":["ABL1","ACVR1B","ADA","AIP","AKT1","APC","AR","ARHGAP26","ARMC5","ASCC1","ASPSCR1","ASXL1","ATM","AURKA","AXIN1","AXIN2","BARD1","BAX","BCL10","BCR","BRAF","BRCA1","BRCA2","BRIP1","BUB1","BUB1B","C1GALT1C1","CALR","CASP10","CASP8","CBL","CCND1","CDC73","CDH1","CEBPA","CHEK2","CHIC2","CREB1","CTHRC1","CTNNB1","CYP2A6","DCC","DICER1","DLC1","DNMT3A","EGFR","ELP1","EP300","ERBB2","ERCC6","ESR1","ETV6","EWSR1","EXT1","FASLG","FGFR1","FGFR2","FGFR3","FLCN","FLT3","FOXO1","GATA2","GNAI2","GNAS","GNB1","GPC3","GPC4","GPR161","H19","HDAC4","HMMR","HRAS","IDH1","IGF2","IGF2R","IL1B","IL1RN","IL6","IL6ST","IRF1","JAK2","KIF1B","KIT","KLF6","KRAS","LIG4","LPP","LZTS1","MAD1L1","MAP3K8","MCC","MET","MINPP1","MLH3","MLLT10","MPL","MSH3","MSH6","MSR1","MTOR","MUTYH","MXI1","MYC","MYD88","NBN","NEK9","NF1","NPM1","NQO2","NR4A3","NRAS","NUMA1","NUP214","OPCML","PAX3","PAX6","PAX7","PDGFRA","PDGFRL","PHB1","PICALM","PIGA","PIGT","PIK3CA","PLA2G2A","PLAG1","POU6F2","PPM1D","PPP2R1B","PRCC","PRKN","PTCH2","PTEN","PTPN11","PTPN12","PTPRJ","RAD51","RAD54B","RAD54L","RARA","RB1","RB1CC1","RHOA","RNF6","RPS14","RUNX1","SF3B1","SH2B3","SH3GL1","SLC22A18","SLC35A2","SMAD4","SMARCB1","SMO","SRC","SRGAP1","SSX2","STK11","SUFU","TAF15","TAL1","TAL2","TERT","TET2","TFE3","TGFBR2","TLR2","TP53","TSC1","TSC2","UBA1","WT1","WWOX","XRCC3","ZFHX3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_MUSCULATURE_OF_THE_UPPER_LIMBS":{"collection":"C5:HPO","systematicName":"M35296","pmid":"","exactSource":"HP:0001446","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001446","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_MUSCULATURE_OF_THE_UPPER_LIMBS","geneSymbols":["AAAS","ABHD5","ACTA1","ADA2","ADSS1","AGRN","AK9","ALG14","ALG2","ALS2","ALX1","ALX3","ANO5","ANXA11","ASH1L","ATP6V0A2","BAG3","BICD2","BIN1","BRAF","BSCL2","C19orf12","CADM3","CAPN3","CAV3","CCDC8","CEP126","CFL2","CHCHD10","CHRNA1","CHRNB1","CHRND","CHRNE","CLDN11","COL12A1","COL13A1","COL6A1","COL6A2","COL6A3","COLQ","COMP","CPLANE1","CPOX","CRPPA","CRYAB","CSGALNACT1","CUL7","CYP7B1","DCTN1","DMD","DNA2","DNAJB6","DNM1L","DNM2","DOK7","DPAGT1","DSTYK","DYSF","EIF4A3","EMD","EMILIN1","EYA1","FBLN5","FBN1","FBXO38","FBXW11","FGD4","FGFR2","FHL1","FKRP","FKTN","FLNA","FLNB","FLNC","FRG1","FXN","GALC","GARS1","GATA1","GBF1","GDAP1","GDF11","GFPT1","GIPC1","GJB1","GMPPA","GMPPB","GNB4","GNE","GYG1","HACD1","HARS1","HEATR3","HINT1","HK1","HMBS","HNRNPDL","HOXA13","HSPB1","HSPB3","IDUA","INF2","ITGA7","ITPR3","JAG1","JAG2","KANSL1","KAT6A","KBTBD13","KCNJ2","KIF1A","KIF5A","KLHL41","KLHL9","KY","LAMA2","LAMB2","LDB3","LGI4","LIPE","LMNA","LMX1B","LPIN1","LRIF1","LRP12","LRP4","MAP3K20","MAP3K7","MARS1","MATR3","MB","MFN2","MORC2","MPZ","MT-CO1","MT-CO3","MT-TE","MTMR14","MTPAP","MUSK","MYBPC1","MYF6","MYH2","MYH7","MYL2","MYMK","MYMX","MYOT","MYPN","NDRG1","NEB","NEFH","NEFL","NGLY1","NOTCH2NLC","OBSCN","OBSL1","OPA1","PAX1","PAX3","PDK3","PLEC","PLIN4","PLOD3","PLXND1","PMP22","PNPLA2","POGLUT1","POLG","POLG2","POMT1","POMT2","PPOX","PRR12","PRX","PSAP","PTPN11","PUS1","PYROXD1","RAD51C","RAF1","RAPSN","RBM8A","REEP1","REV3L","RILPL1","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS7","RRM2B","RYR1","RYR3","SALL4","SBF2","SCN4A","SELENON","SEPSECS","SEPTIN9","SGCA","SGCB","SGCD","SGCG","SIGMAR1","SLC12A6","SLC25A21","SLC25A4","SLC39A13","SLC52A3","SLC5A6","SMCHD1","SMN1","SMN2","SMPX","SPEG","SPG11","SPG7","SPRED2","SPTLC1","SQSTM1","STIM1","SVBP","SYNE1","SYNE2","TBX3","TBX5","TCAP","TFG","TGFB3","TIA1","TIMM8A","TK2","TMEM43","TNNT1","TNPO3","TNR","TPM2","TPM3","TRAPPC11","TRIM2","TRIM32","TRIO","TRPS1","TRPV4","TSEN15","TSEN2","TSEN34","TSEN54","TSR2","TTN","TWNK","VCP","VPS37A","VWA1","WARS1","YARS1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_Y_LINKED_INHERITANCE":{"collection":"C5:HPO","systematicName":"M35297","pmid":"","exactSource":"HP:0001450","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001450","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_Y_LINKED_INHERITANCE","geneSymbols":["BPY2","CDY1","CDY2A","DAZ1","DAZ2","DAZ3","DDX3Y","HSFY1","KDM5D","PRY","PRY2","RBMY1A1","RPS4Y2","SRY","TBL1Y","USP9Y","VCY","XKRY"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_UPPER_ARM":{"collection":"C5:HPO","systematicName":"M35298","pmid":"","exactSource":"HP:0001454","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001454","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_UPPER_ARM","geneSymbols":["AGPS","ALG12","ATP7A","B3GALT6","BMP1","COL2A1","CREB3L1","CYP26B1","DNM2","DONSON","DYM","EMD","ESCO2","EZH2","FANCB","FGF9","FGFR1","FGFR2","FHL1","FLNA","FLNB","FZD2","GDF5","GNAS","GNPAT","GNPTAB","GPC6","GSC","HNRNPDL","IFT122","IHH","KIAA0753","LAMA5","LBR","LMBR1","LMNA","LMX1B","LONP1","LYSET","MACROH2A1","MORC2","MTHFS","MTMR14","MYSM1","NOG","PEX5","PITX1","POLR3A","POR","PRKG2","PTDSS1","RBM8A","RECQL4","RNU4ATAC","RSPO2","SALL4","SGCD","SHOX","SLC26A2","SNRPB","SPARC","SRCAP","STX16","SUCLG1","SYNE1","SYNE2","TBX15","TBX3","TBX5","TCAP","TGDS","TGFB1","TMEM43","TNFRSF11B","TONSL","TRPV4","WNT7A","ZIC3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_MUSCULATURE_OF_THE_UPPER_ARM":{"collection":"C5:HPO","systematicName":"M35299","pmid":"","exactSource":"HP:0001457","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001457","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_MUSCULATURE_OF_THE_UPPER_ARM","geneSymbols":["DNM2","EMD","FHL1","HNRNPDL","LMNA","LMX1B","MORC2","MTMR14","SGCD","SYNE1","SYNE2","TCAP","TMEM43","TRPV4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APLASIA_HYPOPLASIA_INVOLVING_THE_SKELETAL_MUSCULATURE":{"collection":"C5:HPO","systematicName":"M35300","pmid":"","exactSource":"HP:0001460","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001460","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_INVOLVING_THE_SKELETAL_MUSCULATURE","geneSymbols":["ACTA1","ALG9","ATP6V0A2","B3GALNT2","B4GAT1","CAV3","CHRNA1","CHRND","CHRNG","COL4A1","COLEC11","CRPPA","DAG1","FBN2","FKRP","FKTN","FLNA","FLVCR2","GLE1","HACD1","HBB","INPP5K","ITGA7","LARGE1","LMX1B","MAP3K20","MAP3K7","MYL2","MYMK","MYMX","PIEZO2","PLXND1","PMP22","POMGNT1","POMGNT2","POMK","POMT1","POMT2","RBM8A","REV3L","RXYLT1","SALL4","SCN4A","SELENON","SIL1","TBX3","TBX5","TPM2","TPM3","TRPV4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APLASIA_HYPOPLASIA_INVOLVING_THE_MUSCULATURE_OF_THE_UPPER_LIMBS":{"collection":"C5:HPO","systematicName":"M41236","pmid":"","exactSource":"HP:0001467","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001467","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_INVOLVING_THE_MUSCULATURE_OF_THE_UPPER_LIMBS","geneSymbols":["FLNA","LMX1B","MAP3K7","RBM8A","SALL4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DELAYED_CLOSURE_OF_THE_ANTERIOR_FONTANELLE":{"collection":"C5:HPO","systematicName":"M35302","pmid":"","exactSource":"HP:0001476","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001476","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DELAYED_CLOSURE_OF_THE_ANTERIOR_FONTANELLE","geneSymbols":["ADAMTS2","AMER1","ANKRD11","ANTXR1","ASPA","ATP6V0A2","ATP6V1A","ATP6V1E1","ATP7A","BANF1","COL1A1","CTSK","DSE","FAM111A","FLNA","GH1","GRB10","H19","HDAC4","IGF2","MED12","MMP2","NCAPG2","NLRP3","PEX14","PEX19","PEX2","POLR3A","RPS6KA3","RUNX2","SEC23A","SMC3","TBCE","ZIC1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FRECKLING":{"collection":"C5:HPO","systematicName":"M35303","pmid":"","exactSource":"HP:0001480","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001480","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FRECKLING","geneSymbols":["ABCB6","ACD","AP3D1","BAP1","BRAF","CDH3","CDK4","CDKN2A","CDKN2B","DDB2","ERCC2","ERCC3","ERCC4","ERCC5","ERCC6","ERCC8","GPR143","HPS1","KAT6A","KRT5","MC1R","MGMT","MITF","MLH1","MSH6","NBN","NF1","OCA2","POFUT1","POGLUT1","POT1","PPP1CB","PRKAR1A","PSENEN","PTPN11","RAF1","SASH1","SOX18","SPRED1","TERF2IP","TERT","TP63","TYR","TYRP1","UVSSA","XPA","XPC"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SUBCUTANEOUS_NODULE":{"collection":"C5:HPO","systematicName":"M35304","pmid":"","exactSource":"HP:0001482","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001482","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUBCUTANEOUS_NODULE","geneSymbols":["ABCC6","ACVR1","AKT1","ANTXR2","APC","APOE","ASAH1","B2M","BRAF","BTNL2","C4A","CCR1","CDK4","COL1A1","COL3A1","COL5A1","COL5A2","COL7A1","CTNNB1","CYLD","DACT1","DDIT3","ECM1","ENPP1","ERAP1","FAS","FBN1","FERMT3","FGFR1","FGFR2","FUS","GLA","GLS","GNAS","HLA-B","HLA-DRB1","HMGA2","IARS2","IDH1","IDH2","IFNG","IFNGR1","IL10","IL12A","IL12A-AS1","IL12B","IL23R","INSR","KIF11","KLLN","KLRC4","KRAS","LEMD3","LSS","MC1R","MDM2","MEFV","MLX","MMP14","MMP2","MYSM1","NAGA","NOTCH3","NRAS","OCRL","PDGFB","PDGFRB","PIK3CA","POMP","PORCN","PTEN","PTH1R","PTPN11","RAF1","SALL1","SDHB","SDHC","SDHD","SEC23B","STAT4","TEK","TLR4","TNFRSF11A","TNFRSF11B","TSC1","TSC2","UBAC2","USF3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_EYE_POKING":{"collection":"C5:HPO","systematicName":"M47045","pmid":"","exactSource":"HP:0001483","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001483","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EYE_POKING","geneSymbols":["CRB1","GUCY2D","NMNAT1","RPE65","TULP1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BILATERAL_PTOSIS":{"collection":"C5:HPO","systematicName":"M35305","pmid":"","exactSource":"HP:0001488","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001488","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BILATERAL_PTOSIS","geneSymbols":["ABCC8","ACBD5","ADNP","AEBP1","ATP6V1B2","AUTS2","CDC42BPB","CERT1","CHRNG","CLCN3","COL25A1","COL2A1","COLQ","DBH","DGUOK","DNM1L","FLNA","GCK","GSN","IDUA","IGF1","INS","ISCU","KCNH1","KCNJ11","KDM1A","KDM6A","KIF21A","KMT2D","LAMB2","LRP12","MAF","NAA10","NARS2","NGLY1","NOVA2","NRAS","ODC1","OGDHL","OPA1","PACS1","PAH","PAX6","PDX1","PDZD8","PHOX2A","PLEC","POLG","POLRMT","RAD21","RNASEH1","RRM2B","RYR1","SCN4A","SETD5","SOS1","SPECC1L","STAC3","STAT3","TBC1D24","TK2","TUBA1A","TUBB2B","TUBB3","TWIST1","TYMS","WT1","ZFHX4","ZNF407"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CONGENITAL_FIBROSIS_OF_EXTRAOCULAR_MUSCLES":{"collection":"C5:HPO","systematicName":"M45398","pmid":"","exactSource":"HP:0001491","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001491","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONGENITAL_FIBROSIS_OF_EXTRAOCULAR_MUSCLES","geneSymbols":["COL25A1","KIF21A","PHOX2A","TUBA1A","TUBB2B","TUBB3","ZFHX4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FALCIFORM_RETINAL_FOLD":{"collection":"C5:HPO","systematicName":"M45399","pmid":"","exactSource":"HP:0001493","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001493","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FALCIFORM_RETINAL_FOLD","geneSymbols":["CTNNB1","FZD4","LRP5","NDP","TSPAN12","ZNF408"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CARPAL_BONE_HYPOPLASIA":{"collection":"C5:HPO","systematicName":"M35306","pmid":"","exactSource":"HP:0001498","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001498","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CARPAL_BONE_HYPOPLASIA","geneSymbols":["ALDH18A1","COMP","DYM","EIF2AK3","EXOC6B","GNPTAB","KIF22","NANS","RBM8A","RSPRY1","SALL4","TRPV4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BROAD_FINGER":{"collection":"C5:HPO","systematicName":"M35307","pmid":"","exactSource":"HP:0001500","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001500","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BROAD_FINGER","geneSymbols":["ACAN","ADAMTS10","ADNP","ALX4","AMMECR1","ARHGEF2","ARX","B3GALT6","B3GAT3","BGN","BICRA","BMP2","BMPR1A","BPTF","CASK","CBFB","CDC42BPB","CDKL5","CHST3","COL10A1","COL2A1","CREBBP","CTNNB1","DACT1","DHX30","DLK1","DMXL2","DNM1L","DVL1","DVL3","EED","EP300","EXOSC2","EXTL3","EZH2","FBN1","FGF9","FGFR1","FGFR2","FGFR3","FLNA","FLNB","G6PC3","GATA4","GATAD2B","GDF5","GJA5","GJA8","GLI3","GNAO1","GNAS","GPC3","GPC4","GRIN1","GRM7","H3-3A","H3-3B","HNRNPR","HOXD13","HPGD","HS2ST1","IFIH1","IFT122","INPPL1","KCNA1","KCNH1","KCTD1","KIF22","KNSTRN","LIG4","LMBR1","MAN2C1","MAP3K7","MED12","MEG3","MEGF8","MEIS2","MSX2","NEPRO","NEUROD2","NHS","NOG","NPR2","NSD1","NSUN2","NXN","OFD1","OTUD6B","PACS1","PCDHGC4","PIGP","PIGQ","PIK3CD","PNKP","POGZ","PRKD1","PRKG2","PSMD12","PTEN","PUF60","PYCR2","RAB23","RBM8A","RLIM","RNU4ATAC","ROR2","RPS6KA3","RTL1","SALL1","SATB2","SCN1B","SCN2A","SETD5","SIAH1","SIK1","SLC25A22","SLC32A1","SMARCA2","SMO","SMOC1","SNIP1","SRCAP","SUMF1","SUZ12","TBCK","TBX5","TRIM8","TRPM3","TTC26","TWIST1","USP9X","WDR19","WLS","WNT5A","XYLT1","ZNF141","ZNF668"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FAILURE_TO_THRIVE":{"collection":"C5:HPO","systematicName":"M35308","pmid":"","exactSource":"HP:0001508","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001508","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FAILURE_TO_THRIVE","geneSymbols":["AARS1","AARS2","AASS","ABCA12","ABCA3","ABCB11","ABCC6","ABCC8","ABCD1","ABCD4","ABL1","ACAD9","ACADS","ACD","ACO2","ACOX1","ACSF3","ACSL5","ACTA1","ACTB","ACTG1","ACTL6B","ACVR1","ADA","ADAM17","ADAR","ADAT3","ADCY5","ADH5","ADK","ADNP","AFF3","AGPAT2","AGPS","AGR2","AGTPBP1","AGXT","AHCY","AHDC1","AIMP1","AK2","AKR1D1","AKT1","ALAD","ALDH18A1","ALDOB","ALG11","ALG12","ALG3","ALG6","ALG8","ALG9","ALOX12B","ALOXE3","ALPL","AMACR","AMER1","AMN","ANKRD55","ANO1","ANTXR2","AP1B1","AP3B2","AQP2","ARCN1","ARFGEF2","ARHGAP31","ARID1B","ARPC1B","ARV1","ARVCF","ARX","ASAH1","ASCL1","ASL","ASNS","ASS1","ASXL1","ASXL3","ATM","ATP1A2","ATP1A3","ATP5F1A","ATP5F1B","ATP6AP1","ATP6V0A2","ATP6V0A4","ATP6V1A","ATP6V1E1","ATP7A","ATP7B","ATP8B1","ATP9A","ATPAF2","ATXN7","AUH","AVPR2","B3GALT6","B4GALT7","BANF1","BAZ1B","BCAP31","BCL7B","BCS1L","BICRA","BLNK","BMP4","BMPR1A","BPTF","BRAF","BRCA1","BRCA2","BRD4","BRF1","BSCL2","BSND","BTK","BUD23","C2orf69","CA12","CA2","CACNA1A","CACNA1B","CACNA2D1","CAD","CAMKMT","CARMIL2","CARS1","CARS2","CASK","CASP8","CASR","CASZ1","CAV1","CAVIN1","CBFB","CBL","CBS","CD19","CD247","CD3D","CD3E","CD3G","CD40LG","CD79A","CD79B","CD81","CD96","CDC45","CDC6","CDK19","CDKL5","CDON","CDT1","CEACAM3","CEACAM6","CELF2","CENPJ","CENPT","CERS3","CFTR","CHD7","CHRM3","CHRNA3","CHRNG","CIITA","CIT","CLCA4","CLCN3","CLCNKA","CLCNKB","CLDN16","CLIP2","CLMP","CLTC","CNKSR2","COA8","COG1","COG4","COG6","COG7","COG8","COL12A1","COL4A5","COL4A6","COL6A1","COL6A2","COL6A3","COL7A1","COMT","COPB2","COX10","COX4I1","COX4I2","COX5A","COX7B","CPLANE1","CPLX1","CPS1","CPSF3","CR2","CREBBP","CSF2RA","CSF2RB","CSNK2A1","CSPP1","CTBP1","CTCF","CTNS","CUBN","CUL3","CYB5A","CYC1","CYFIP2","CYP11A1","CYP11B2","CYP17A1","CYP24A1","CYP27B1","CYP2R1","CYP7B1","DACT1","DALRD3","DCLRE1C","DCTN4","DDB2","DDOST","DEAF1","DEGS1","DGAT1","DGUOK","DHCR24","DHCR7","DHDDS","DISP1","DKC1","DLD","DLL1","DLL4","DMXL2","DNAJC19","DNAJC21","DNAJC30","DNASE2","DNM1","DNM1L","DNMT3B","DOCK6","DOLK","DPAGT1","DPM1","DPM2","DPP9","DPYD","DSG1","DSP","DYM","DYNC2I1","DYNC2LI1","DYRK1A","EARS2","EBP","ECE1","EDN3","EDNRA","EDNRB","EEF1A2","EFL1","EGFR","EHMT1","EIF4H","EIF5A","ELAC2","ELMO2","ELN","EN1","ENPP1","EOGT","EP300","EPCAM","EPG5","EPRS1","ERBB2","ERBB3","ERCC1","ERCC2","ERCC3","ERCC4","ERCC5","ERCC6","ERCC8","ERMARD","ETHE1","EVC","EVC2","EXOSC3","EXOSC8","EXOSC9","FAH","FAM111A","FAM149B1","FANCF","FARSB","FBN1","FBXL4","FBXO28","FCGR2A","FDFT1","FDXR","FGD1","FGF12","FGF13","FGF8","FGFR1","FGFRL1","FH","FIG4","FKBP6","FLCN","FLII","FLNA","FMR1","FOCAD","FOS","FOXH1","FOXP1","FOXP3","FOXRED1","FTO","FUCA1","FUT8","FZR1","G6PC3","GAA","GABBR2","GABRA2","GABRA5","GABRB2","GABRD","GABRG2","GALC","GALE","GALK1","GALM","GALT","GAS1","GATA6","GATM","GBA1","GBE1","GCDH","GCK","GCLC","GDNF","GFAP","GGPS1","GJA1","GJA5","GJA8","GJB2","GJB6","GLB1","GLI1","GLI2","GLUD1","GLYCTK","GMNN","GNAO1","GNB1","GNB2","GNPAT","GNPTAB","GOLGA2","GP1BB","GPD1","GPIHBP1","GPR161","GPT2","GRB10","GRIA4","GRIN1","GRIN2D","GRM7","GSTM3","GTF2H5","GTF2I","GTF2IRD1","GTF2IRD2","GTPBP2","GTPBP3","GYS2","H19","H3-3B","H4C5","HACD1","HADH","HADHA","HADHB","HBA1","HBA2","HBB","HCCS","HCFC1","HCN1","HDAC8","HERC2","HESX1","HEXB","HFE","HIBCH","HIKESHI","HIRA","HIVEP2","HLA-DQA1","HLA-DQB1","HMGA2","HMOX1","HNRNPH1","HNRNPH2","HNRNPK","HPD","HPDL","HRAS","HSD11B2","HSD17B4","HSD3B2","HSD3B7","HSPG2","HTRA2","HYMAI","IARS1","ICOS","IDH1","IFNG","IFT140","IGF1","IGF2","IGHM","IGHMBP2","IGLL1","IKBKB","IKBKG","IL1RN","IL21","IL21R","IL2RA","IL2RB","IL2RG","IL7R","INS","INSR","IPO8","IQSEC2","IRF2BP2","IRF8","ITCH","ITGA7","JAG1","JAGN1","JAK1","JAK3","JMJD1C","KANSL1","KARS1","KAT6B","KCNA1","KCNA2","KCNAB2","KCNB1","KCNJ1","KCNJ11","KCNJ6","KCNN4","KCNQ2","KCNT1","KDM5C","KDM6A","KIAA0586","KIAA0753","KIF15","KIF1B","KIF7","KLLN","KMT2A","KMT2C","KMT2D","KMT5B","KRAS","KRT14","KRT16","KRT17","KRT5","KRT6A","KRT6B","LAMA3","LAMB3","LAMC2","LARS1","LAT","LBR","LCK","LEMD3","LETM1","LGI3","LHX4","LIG4","LIMK1","LINS1","LIPA","LMBRD1","LMNA","LMNB1","LPIN2","LRBA","LRPPRC","LRRC8A","LRRK1","LTC4S","LUZP1","LYRM4","LYRM7","MAGEL2","MAP2K1","MAP2K2","MAP3K20","MAP3K7","MAPKAPK5","MARS1","MARS2","MBL2","MBTPS2","MC2R","MCCC1","MCCC2","MCEE","MCM4","MCTP2","MDH2","MECP2","MECR","MED12","MED17","MEGF10","METTL27","MGAT2","MICOS13","MIF","MIPEP","MKKS","MKRN3","MLXIPL","MMAA","MMAB","MMACHC","MMADHC","MMP23B","MMUT","MPDU1","MPI","MPV17","MRAP","MRPL12","MRPL3","MRPS14","MRPS2","MRPS28","MRPS7","MS4A1","MSMO1","MT-ATP6","MT-CO1","MT-CO2","MT-CO3","MT-CYB","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND5","MT-ND6","MT-TF","MT-TH","MT-TK","MT-TL1","MT-TN","MT-TQ","MT-TS1","MT-TS2","MT-TV","MT-TW","MTHFR","MTO1","MTR","MTRFR","MTRR","MTTP","MVK","MYH3","MYH7","MYL2","MYMK","MYMX","MYO5B","MYOD1","NACC1","NADK2","NAGS","NALCN","NCAPG2","NCF1","NDN","NDP","NDUFA1","NDUFA11","NDUFA13","NDUFA2","NDUFA4","NDUFA6","NDUFA8","NDUFAF1","NDUFAF2","NDUFAF3","NDUFAF4","NDUFAF5","NDUFAF8","NDUFB10","NDUFB11","NDUFB3","NDUFB8","NDUFB9","NDUFS1","NDUFS2","NDUFS3","NDUFS4","NDUFS6","NDUFS7","NDUFS8","NDUFV1","NDUFV2","NECAP1","NEDD4L","NELFA","NEUROD2","NEUROG3","NEXMIF","NFASC","NFE2L2","NFIA","NFIX","NFKB1","NFKB2","NFKBIA","NFU1","NGLY1","NHLRC2","NIPAL4","NIPBL","NKX2-1","NLRC4","NLRP1","NNT","NODAL","NONO","NOTCH1","NOTCH2","NPAP1","NR0B1","NR1H4","NR3C2","NRCAM","NRTN","NSD2","NSMCE3","NSRP1","NSUN3","NTRK2","NUBPL","NUP214","NUP54","NUP62","NUS1","OCA2","OCLN","OCRL","OFD1","OGDHL","ORAI1","ORC1","ORC4","ORC6","OSGEP","OTC","OTUD6B","OTULIN","PACS1","PACS2","PARN","PARS2","PAX2","PBX1","PCCA","PCCB","PCGF2","PCSK1","PDE6D","PDGFRB","PDHX","PDPN","PDX1","PEPD","PERCC1","PET100","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PEX7","PGAP1","PGM3","PHGDH","PHKA2","PHKG2","PHOX2B","PIEZO2","PIGA","PIGB","PIGG","PIGP","PIGQ","PIK3CA","PIK3CD","PIK3R1","PKP1","PLAA","PLAGL1","PLCB1","PLCH1","PLP1","PMM2","PMPCB","PNKP","PNP","PNPLA1","PNPO","PNPT1","POC1A","POGZ","POLA1","POLG","POLG2","POLR1B","POLR1C","POLR1D","POLR2A","POLR3A","POLR3K","POMC","POMP","POU1F1","PPARG","PPFIBP1","PPM1B","PPP1CB","PPP3CA","PRDM16","PRDX1","PREPL","PRF1","PRKACA","PRKACB","PRKCD","PRKCZ","PRMT7","PROKR2","PRPS1","PSAP","PSAT1","PSMB10","PSMB4","PSMB8","PSMB9","PSMC1","PSMD12","PTCH1","PTDSS1","PTEN","PTF1A","PTPN11","PTPN2","PTPN22","PTRH2","PUS1","PUS3","PWAR1","PWRN1","PYCR1","PYCR2","PYGL","RAB3GAP1","RAC2","RAD21","RAG1","RAG2","RAI1","RAPSN","RARB","RARS2","RASGRP1","RBCK1","RBM10","RBPJ","RECQL4","RELB","RERE","RET","RFC2","RFT1","RFX5","RFXANK","RFXAP","RIPK1","RIT1","RMRP","RNF13","RNF2","RNU4ATAC","RNU7-1","ROBO1","RPL5","RPS19","RREB1","RRM2B","RTEL1","RTTN","RYR1","RYR3","SALL1","SAR1B","SARS2","SBDS","SC5D","SCN1A","SCN1B","SCN2A","SCN3A","SCN8A","SCNN1A","SCNN1B","SCNN1G","SCO1","SDHB","SDHC","SDHD","SDR9C7","SEC23B","SEC24C","SEC31A","SELENON","SEMA3C","SEMA3D","SERAC1","SERPINA1","SETBP1","SETD2","SFTPB","SFTPC","SGO1","SH2B1","SH3TC2","SHH","SHOC2","SIK1","SIL1","SIM1","SIN3A","SIX3","SKI","SKIC2","SKIC3","SLC10A2","SLC11A1","SLC12A1","SLC12A3","SLC12A5","SLC13A5","SLC16A2","SLC17A5","SLC1A2","SLC1A3","SLC22A5","SLC25A13","SLC25A15","SLC25A19","SLC25A21","SLC25A22","SLC25A24","SLC25A3","SLC25A4","SLC25A46","SLC26A3","SLC26A9","SLC2A2","SLC30A9","SLC32A1","SLC34A1","SLC34A3","SLC35A2","SLC35C1","SLC37A4","SLC38A3","SLC39A13","SLC39A4","SLC39A7","SLC39A8","SLC3A1","SLC46A1","SLC4A1","SLC51A","SLC5A1","SLC6A14","SLC6A8","SLC7A7","SLC9A3","SMAD4","SMARCA2","SMARCAL1","SMARCC2","SMARCD2","SMC1A","SMC3","SMO","SMOC1","SMPD1","SNAP29","SNORD115-1","SNORD116-1","SNRPN","SNX10","SON","SOX9","SP110","SPATA5","SPEN","SPI1","SPINK5","SPOP","SPTBN1","SRD5A3","SREBF1","SRP54","SSR4","ST3GAL5","STAG1","STAG2","STAMBP","STAR","STAT3","STAT4","STAT5B","STIL","STING1","STRA6","STRADA","STT3A","STT3B","STX1A","SUCLA2","SUCLG1","SUGCT","SULT2B1","SURF1","SYNGAP1","SYNJ1","SYT2","SZT2","TAFAZZIN","TALDO1","TAOK1","TASP1","TBC1D24","TBL1XR1","TBL2","TBR1","TBX1","TBX4","TCF3","TCF4","TCIRG1","TCN2","TCOF1","TCTN3","TDGF1","TERT","TFAM","TFRC","TGDS","TGFB1","TGFB3","TGIF1","TGM1","TIMM50","TIMMDC1","TINF2","TJP2","TK2","TKFC","TLK2","TLL1","TMEM106B","TMEM126B","TMEM165","TMEM216","TMEM270","TMEM70","TMPRSS15","TNFRSF11B","TNFRSF13B","TNFRSF13C","TNFSF12","TNPO2","TOM1","TOPORS","TPI1","TPM2","TPM3","TRAC","TRAK1","TRAPPC2","TRIM8","TRIO","TRIT1","TRMT10C","TRMT5","TSHB","TTC26","TTN","TWIST2","TWNK","TXNRD2","TYMS","UBA2","UBA5","UBE3B","UBE4B","UBR1","UFC1","UFD1","UMPS","UNC45A","UNC80","UQCC2","USF3","USP7","VAC14","VDR","VHL","VIPAS39","VPS13B","VPS33B","VPS37A","VPS37D","VPS45","VPS51","VPS53","VRK1","WDR11","WDR26","WDR4","WDR62","WNT2B","WNT7B","WWOX","XPA","XPC","YARS1","YARS2","YWHAG","ZAP70","ZEB2","ZFP57","ZIC2","ZIC3","ZMPSTE24","ZNF668","ZNF699","ZNFX1","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INTRAUTERINE_GROWTH_RETARDATION":{"collection":"C5:HPO","systematicName":"M35309","pmid":"","exactSource":"HP:0001511","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001511","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTRAUTERINE_GROWTH_RETARDATION","geneSymbols":["AARS1","ABCB7","ABCC8","ABCD1","ABL1","ACADS","ACD","ADAR","ADAT3","ADGRG1","ADGRG6","ADNP","AFF2","ALDH18A1","ALG1","ALG12","ALG8","ALX4","AMFR","APPL1","ARCN1","ARID1A","ARID1B","ARID2","ARL6IP6","ARVCF","ASNS","ASXL1","ASXL2","ASXL3","ATP5F1A","ATP6V0A2","ATP6V1A","ATP6V1E1","ATP7A","ATR","ATRIP","AUTS2","B3GLCT","BCAP31","BCR","BCS1L","BIN1","BLK","BLM","BMPER","BRAF","BRCA1","BRCA2","BRD4","BRIP1","BRPF1","BUB1","BUB1B","BUB3","C1QBP","CANT1","CARS1","CCDC134","CCDC8","CCNQ","CDC42BPB","CDC45","CDC6","CDCA7","CDK10","CDK13","CDKN1C","CDON","CDT1","CEL","CENPE","CENPJ","CEP152","CEP290","CEP57","CHD7","CHRNA1","CHRND","CHRNG","CITED2","CKAP2L","CLCN7","CLPB","CNOT1","COG1","COG4","COG5","COG6","COG7","COMT","COQ4","COQ7","COQ9","CORIN","COX11","COX16","COX6B1","CPLX1","CREBBP","CRKL","CRTAP","CTBP1","CTC1","CTDP1","CTNND2","CTSK","CTU2","CUL7","CWC27","DBR1","DCLRE1B","DDX11","DDX3X","DEF6","DHCR24","DHCR7","DHDDS","DISP1","DKC1","DLK1","DLL1","DLL3","DNA2","DNAJB4","DNAJC19","DNAJC21","DNMT3A","DOK7","DONSON","DPF2","DPP9","DSP","DST","DYNC2LI1","DYRK1A","EFEMP2","EIF5A","ELAC2","ELN","EMG1","EP300","EPB41L1","ERCC1","ERCC2","ERCC3","ERCC4","ERCC5","ERCC6","ERCC8","ESCO2","EVC","EVC2","EXOSC9","FAM111A","FAM20C","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FARSB","FBLN5","FBN1","FDFT1","FGF8","FGFR1","FGFRL1","FIG4","FKTN","FLI1","FLNB","FLT1","FLT4","FLVCR2","FMR1","FOCAD","FOXH1","FOXP2","FOXRED1","FRA10AC1","FTO","FUT8","FZR1","GAS1","GATA4","GATA5","GATA6","GATAD2B","GATB","GATC","GBA1","GCK","GDF1","GFM1","GFM2","GINS1","GJA5","GLB1","GLDN","GLI1","GLI2","GLI3","GLIS3","GMNN","GNA11","GNAS","GON7","GP1BB","GPKOW","GRB10","GTF2E2","GTF2H5","GTPBP3","GUF1","H19","HADH","HBB","HDAC6","HDAC8","HERC2","HES7","HHAT","HIRA","HMGA2","HNF1A","HNF4A","HOXD13","HSD11B2","HYLS1","HYMAI","IARS1","IBA57","IDH1","IFIH1","IGF1","IGF1R","IGF2","IGHMBP2","IL6ST","INS","INSR","ITPA","JAG1","JAM2","JMJD1C","JUP","KANSL1","KAT6A","KATNB1","KCNJ11","KDM6A","KDR","KIF14","KIF21A","KIF2A","KIF5C","KLF11","KMT2A","KMT2B","KMT2D","LAGE3","LAMA5","LARS2","LEMD2","LEMD3","LETM1","LFNG","LIFR","LIG4","LMBRD1","LMNA","LONP1","LRRC32","LTBP1","MAD2L2","MADD","MAGEL2","MAPK1","MBTPS2","MCM4","MCM5","MCTP2","MED11","MED12","MEG3","MESD","MESP2","MKRN3","MKS1","MLXIPL","MMACHC","MPLKIP","MRPS25","MRPS28","MT-ND1","MT-ND2","MT-ND3","MT-TL1","MTHFR","MTO1","MTRR","MUSK","MYH3","MYOD1","MYORG","NAA10","NADK2","NALCN","NBN","NCAPG2","NDE1","NDUFA1","NDUFA10","NDUFA11","NDUFA6","NDUFAF1","NDUFAF2","NDUFAF3","NDUFAF4","NDUFAF5","NDUFAF8","NDUFB10","NDUFB11","NDUFB3","NDUFB7","NDUFB9","NDUFS1","NDUFS2","NDUFS3","NDUFS4","NDUFS6","NDUFS7","NDUFS8","NDUFV1","NDUFV2","NEK9","NELFA","NEUROD1","NF1","NFE2L2","NFIX","NHP2","NIN","NIPBL","NKX2-5","NKX2-6","NODAL","NOP10","NOS3","NPAP1","NPM1","NRCAM","NSD2","NSDHL","NSUN2","NUAK2","NUBPL","NUP107","NUP133","NUP188","NUP85","NUP88","NUS1","OBSL1","ORC1","ORC4","ORC6","OSGEP","OTUD5","OTUD6B","P4HB","PAH","PALB2","PARN","PAX4","PCDH12","PCGF2","PCNT","PDE4D","PDE6D","PDGFB","PDGFRB","PDHA1","PDHB","PDX1","PET100","PEX2","PEX5","PHGDH","PI4KA","PIEZO2","PIGG","PIK3R1","PKLR","PLAG1","PLAGL1","PLK4","PLOD3","PLXND1","PNPT1","POGZ","POLA1","POLE","POLR3A","POP1","POT1","PPP1R15B","PPP2R5D","PRDM13","PRIM1","PRKACA","PRKACB","PRKAR1A","PRKDC","PRMT7","PRORP","PRPS1","PSAT1","PSPH","PTCD3","PTCH1","PTDSS1","PTF1A","PTPN11","PUF60","PWAR1","PWRN1","PYCR1","QRICH1","QRSL1","RAB18","RAB3GAP1","RAB3GAP2","RAC1","RAD21","RAD51","RAD51C","RAF1","RAPSN","RARB","RB1","RBBP8","RBM10","RECQL4","RELN","RERE","RFWD3","RFX6","RHAG","RHCE","RHD","RIPK4","RIPPLY2","RMRP","RNASEH2A","RNF113A","RNF2","RNU4ATAC","RNU7-1","RPL10","RPL11","RPS19","RREB1","RTEL1","RTL1","RTTN","SAMD9","SATB1","SC5D","SCO1","SCUBE3","SDHA","SDHAF1","SDHB","SDHD","SEC24C","SEC24D","SEC31A","SEC61A1","SEMA3E","SEMA5A","SF3B4","SFXN4","SHH","SHQ1","SIN3A","SIX2","SIX3","SKIC2","SKIC3","SLC18A3","SLC20A2","SLC25A13","SLC25A24","SLC26A2","SLC30A9","SLC35A2","SLC35C1","SLX4","SMAD4","SMARCA2","SMARCA4","SMARCAL1","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SMC1A","SMC3","SMPD4","SNORD115-1","SNORD116-1","SNRPB","SNRPN","SON","SOX11","SOX4","SPTBN1","SRPX2","STAG1","STAT3","STN1","STOX1","STRA6","STT3A","STT3B","SUCLG1","SUFU","TAF1","TALDO1","TAPT1","TARS1","TBC1D20","TBCE","TBX1","TBX4","TBX6","TCTN3","TDGF1","TELO2","TERC","TERT","TFAM","TFAP2A","TGDS","TGIF1","TIMM22","TIMMDC1","TINF2","TMEM126B","TMEM216","TMEM70","TONSL","TOP3A","TOR1A","TP53RK","TPRKB","TRAF7","TRAIP","TRAPPC11","TRIM37","TRIP13","TRMT10A","TSFM","TTC7A","TUBA1A","TUBGCP4","TUBGCP6","TUFM","TYMS","UBE2T","UBE3C","UBR1","UFD1","UNC80","UQCC2","UQCRFS1","USB1","USP9X","VANGL2","VPS13B","WARS2","WASHC5","WDR4","WDR73","WNT4","WNT7A","WNT7B","WRAP53","XPR1","XRCC2","XRCC4","XYLT1","YIF1B","YRDC","YY1","ZBTB18","ZFP57","ZFPM2","ZIC2","ZMPSTE24","ZMYM2","ZNF335","ZNF699","ZPR1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SMALL_FOR_GESTATIONAL_AGE":{"collection":"C5:HPO","systematicName":"M35310","pmid":"","exactSource":"HP:0001518","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001518","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SMALL_FOR_GESTATIONAL_AGE","geneSymbols":["ABCB11","ABCB4","ABCC8","ACADVL","ACTB","ADA2","ALB","ALG12","ALG8","ANAPC1","AR","ASCL1","ASH1L","ATP8B1","AUTS2","B4GALT1","BLM","BSND","BUB1B","CAMK2B","CARS1","CAV1","CCDC8","CCNQ","CDAN1","CDKN1C","CENPE","CEP57","CLCNKA","CLCNKB","CLTCL1","CNOT1","CNTN1","COG7","COL1A1","COL1A2","COQ7","CORIN","COX20","CPLX1","CREB3L1","CREBBP","CRIPT","CRLS1","CTBP1","CTCF","CTNNB1","CUL7","CYB5A","CYB5R3","DALRD3","DEF6","DLK1","DNAJC21","DNM2","DTYMK","DYRK1A","EIF2S3","EMG1","EP300","EPCAM","ERCC2","ERCC5","ERCC6","FAM111A","FANCA","FANCC","FANCD2","FANCE","FARSB","FBN1","FBXL4","FGFRL1","FIG4","FLCN","FLT1","FZD4","GALK1","GATA1","GATA6","GCK","GK","GMNN","GRB10","GRIN2A","GTF2E2","GUF1","H19","HADHA","HEATR3","HMGA2","HNF1A","HSD11B2","HUWE1","HYMAI","IARS1","IGF1","IGF2","IGHMBP2","INS","INSR","IRF6","KANSL1","KARS1","KCNJ1","KCNJ11","KIF22","LARS2","LETM1","LIG4","LMBRD1","LONP1","LRP5","LRPPRC","MAGEL2","MAMLD1","MAPKAPK5","MBTPS1","MCTP2","MEG3","MRPS16","MSX1","MTO1","MUSK","MYH3","NCAPD2","NCAPD3","NCAPH","NDN","NDP","NDUFA6","NDUFB7","NDUFB8","NECTIN1","NGLY1","NKX3-2","NPHS1","NR1H4","NSD2","NSF","NSMCE3","NSUN2","NUDT2","NUP188","OBSL1","OCA2","ORC1","OTUD5","PAM16","PAX2","PBX1","PDHA1","PET100","PEX2","PHOX2B","PIK3C2A","PIK3R1","PLAG1","PLAGL1","PNPLA6","POC1A","POLR3A","POR","PPFIBP1","PPP1R15B","PPP2R3C","PQBP1","PRKAR1A","PRPS1","PTCD3","PTF1A","PTS","PUF60","RBBP8","RECQL4","RET","RNU4ATAC","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS6KA3","RPS7","RTL1","SALL1","SBDS","SHROOM4","SIN3A","SIX2","SKIC2","SKIC3","SLC12A1","SLC16A2","SLC25A24","SLC26A2","SLC35C1","SMAD4","SMARCAL1","SNIP1","SNRPN","SPR","SRCAP","SRP54","STAG1","STAMBP","STOX1","SUCLA2","SYNE1","TAF13","TALDO1","TAPT1","TBL1XR1","TBR1","THOC2","THRB","TIMM22","TMEM70","TONSL","TP63","TRAIP","TRMT1","TRMT10A","TSHR","TSR2","UBR1","UQCRC2","UQCRFS1","VARS2","VPS13B","VPS33B","WDR4","WDR73","YIPF5","YY1","ZFP57","ZNF335","ZNF668","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DISPROPORTIONATE_TALL_STATURE":{"collection":"C5:HPO","systematicName":"M35311","pmid":"","exactSource":"HP:0001519","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001519","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DISPROPORTIONATE_TALL_STATURE","geneSymbols":["AKT1","ASXL3","ATP6V1A","ATP6V1E1","CBS","CHST14","COL1A2","COL2A1","CPLX1","CTBP1","DLG4","DSE","FBN1","FBN2","FKBP14","HERC1","HPGD","LARS2","LETM1","LOX","MAN2B1","MED12","MFAP5","NELFA","NKAP","NSD2","PIGG","PLOD1","POR","PTEN","RET","SMAD2","SMAD3","SMS","TGFBR1","TGFBR2","THSD4","UPF3B","ZDHHC9","ZNF469"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LARGE_FOR_GESTATIONAL_AGE":{"collection":"C5:HPO","systematicName":"M35312","pmid":"","exactSource":"HP:0001520","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001520","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LARGE_FOR_GESTATIONAL_AGE","geneSymbols":["ABCC8","ABCC9","AKT2","ANK3","APPL1","BIN1","BLK","BRAF","CEL","DICER1","DIS3L2","DLK1","DNM2","EDNRB","EHMT1","FIBP","GCK","GLI3","HERC1","HNF1A","HNF4A","IFT74","INS","KCNJ11","KLF11","KMT2C","MEG3","MTMR14","MTOR","MYF6","NDST1","NEUROD1","ODC1","PAX4","PDX1","PIGA","PIGL","PIGN","PIGT","PTCH1","PTEN","RAF1","RIT1","RNF135","RTL1","RYR1","SHOC2","SOS1","SUFU","TMCO1","UCP2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DEATH_IN_INFANCY":{"collection":"C5:HPO","systematicName":"M35313","pmid":"","exactSource":"HP:0001522","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001522","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEATH_IN_INFANCY","geneSymbols":["AARS2","ABCA12","ABCA3","ACAD9","ACADVL","ACOX1","ACTA1","ACTG2","ADCY6","AFF3","AIMP1","AIMP2","ALG1","ALG14","ALG8","ALPL","AMT","ANTXR2","AP1S1","ARX","ASCL1","ASXL3","ATP1A2","ATP6AP1","ATRX","BMPR1B","BOLA3","BRAT1","C2orf69","CCDC22","CD3G","CD96","CDC40","CDK5","CDON","CLCF1","CNTN1","COASY","COG6","COG7","COX10","COX11","COX16","COX5A","CPT2","CRIPT","CRLF1","CRLS1","CRPPA","CRTAP","CRYAB","DCX","DHCR7","DLL3","DNM1L","DNM2","DOLK","DPH1","DPH5","DPM2","DPYSL5","DYNLT2B","ECHS1","EFL1","ELAC2","EMG1","EPCAM","EPG5","ERCC1","ERCC2","ERCC5","ERCC6","ETHE1","EXTL3","FAM111A","FAM20C","FAN1","FANCB","FARS2","FGA","FGB","FGFR3","FGG","FLI1","FRAS1","FREM2","FXR1","GATC","GBA1","GDF5","GFAP","GLB1","GLDC","GPC3","GPC4","GPR161","GRIP1","GRM7","HADHB","HDAC6","HESX1","HSPG2","HTRA2","IDUA","IKBKB","ITGB4","ITPA","JAM3","JPH2","KIF20A","KLHL40","KRAS","KRT5","LAMA3","LAMB3","LAMC2","LAT","LHX4","LIFR","LIPA","LIPT1","LIPT2","LMNA","LMOD1","LMOD3","LRPPRC","LTBP4","LTC4S","MADD","MBTPS2","MESP2","MLH1","MLH3","MPDU1","MRPL44","MRPS22","MRPS34","MSH2","MSH6","MYH11","MYL1","MYL2","MYLK","MYO5B","NADK2","NADSYN1","NDUFA2","NDUFAF3","NDUFS4","NDUFV2","NEB","NFS1","NFU1","NPC2","NR1H4","NRAS","NSF","NUP214","NXN","OAS1","OCRL","ORAI1","ORC1","PAM16","PET100","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PHOX2B","PIGA","PIGB","PIGY","PIK3CA","PLEC","PLVAP","PLXND1","PMM2","PMS1","PMS2","POMT2","PPCS","PPIL1","PQBP1","PROKR2","PRPS1","PSAP","PSAT1","PTF1A","QRSL1","RAD51C","RBM8A","RET","REV3L","RMND1","RNU4ATAC","ROBO1","ROR2","RPL3L","SCN4A","SCO2","SCYL2","SFTPB","SIK1","SLC25A19","SLC25A24","SLC25A4","SLC25A46","SLC26A2","SMARCD2","SMO","SMOC1","SMPD4","SNRPB","STAT2","STX3","SUCLG1","SUOX","TFAM","TGFBR2","TMEM260","TMEM70","TNFRSF11A","TOR1A","TPI1","TRIP11","TRMT10C","TRMU","TSEN2","TSEN54","TSFM","TSPYL1","TTC7A","TUFM","UBR1","VIPAS39","VPS33B","VPS35L","WASHC5","WDR11","WT1","ZNFX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SEVERE_FAILURE_TO_THRIVE":{"collection":"C5:HPO","systematicName":"M35314","pmid":"","exactSource":"HP:0001525","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001525","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEVERE_FAILURE_TO_THRIVE","geneSymbols":["ASXL1","BSND","CENPJ","CLCNKA","CLCNKB","ERCC6","FIG4","HYMAI","INSR","LMNA","NALCN","PEX7","PRPS1","RTTN","UNC80","VAC14","ZFP57","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HEMIHYPERTROPHY":{"collection":"C5:HPO","systematicName":"M35315","pmid":"","exactSource":"HP:0001528","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001528","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEMIHYPERTROPHY","geneSymbols":["AKT1","AKT2","CDKN1C","DNMT3A","H19","HNF1B","HRAS","IGF2","KCNQ1","KCNQ1OT1","KRAS","NRAS","PIK3CA","RASA1","RNF125","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MILD_POSTNATAL_GROWTH_RETARDATION":{"collection":"C5:HPO","systematicName":"M35316","pmid":"","exactSource":"HP:0001530","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001530","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MILD_POSTNATAL_GROWTH_RETARDATION","geneSymbols":["ADAMTS3","ANKRD55","CCBE1","CD247","CDAN1","ERCC6","ERCC8","FAT4","IGFALS","IL2RA","IL2RB","PRKAR1A","PTPN2","PTPN22","PTRH2","STAT4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FAILURE_TO_THRIVE_IN_INFANCY":{"collection":"C5:HPO","systematicName":"M35317","pmid":"","exactSource":"HP:0001531","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001531","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FAILURE_TO_THRIVE_IN_INFANCY","geneSymbols":["ABCC6","ABCD1","ATP7A","BAZ1B","BCL7B","BPTF","BRAF","BUD23","CARS1","CD19","CD81","CD96","CLIP2","COG1","COG4","COG8","COPB2","COX5A","CR2","CSF2RA","CSF2RB","CTNS","DEAF1","DNAJC30","DYRK1A","ECE1","EDN3","EDNRB","EIF4H","ELN","ENPP1","ERBB2","ERBB3","ERCC1","FDFT1","FGFR1","FIG4","FKBP6","FLII","FOXP1","FOXP3","GDNF","GTF2I","GTF2IRD1","GTF2IRD2","HADHA","HADHB","HBB","HERC2","HPDL","HRAS","ICOS","IL1RN","IL2RA","IQSEC2","IRF2BP2","ITCH","JAK3","KIF15","KRAS","LIMK1","LTC4S","MAGEL2","MAP2K1","MAP2K2","MCCC1","MCCC2","METTL27","MKRN3","MLXIPL","MS4A1","MVK","MYOD1","NCF1","NDUFA4","NFKB1","NFKB2","NPAP1","NRTN","NSMCE3","OTULIN","POLA1","PRKCD","PSAT1","PSMB10","PSMD12","PTPN11","PUS3","PWAR1","PWRN1","PYGL","RAC2","RAI1","RECQL4","RET","RFC2","SCNN1A","SCNN1B","SCNN1G","SEMA3C","SEMA3D","SETBP1","SETD2","SLC16A2","SLC25A13","SLC30A9","SLC35A2","SLC39A8","SMO","SNORD115-1","SNORD116-1","SON","SP110","SPOP","SREBF1","STX1A","TBL2","TGFB3","TK2","TKFC","TMEM270","TNFRSF13B","TNFRSF13C","TNFSF12","TOM1","UNC80","VPS13B","VPS37D","YARS1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SLENDER_BUILD":{"collection":"C5:HPO","systematicName":"M35318","pmid":"","exactSource":"HP:0001533","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001533","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SLENDER_BUILD","geneSymbols":["ACTA1","CIC","COL6A1","COL6A2","COL6A3","DNA2","FARSB","FBN2","GRIA3","HERC1","KANSL1","KBTBD13","KLHL41","MED12","MYPN","NEB","NONO","NSDHL","POLG","POLR3A","SARS1","STRADA","TGFB1","TIMM50","TNNT1","TPM2","TPM3","TUBB4A","TYMP","UPF3B","WRN"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PROTUBERANT_ABDOMEN":{"collection":"C5:HPO","systematicName":"M35319","pmid":"","exactSource":"HP:0001538","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001538","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROTUBERANT_ABDOMEN","geneSymbols":["BMPER","COL11A1","COL11A2","COL2A1","CYP27B1","CYP2R1","DICER1","DLK1","DLL3","DYM","FBN1","FGFR3","FLNB","G6PC1","GBA1","GNE","GNPTAB","GUSB","IDUA","IFT122","IFT52","INPPL1","KAT6A","KIAA0753","LBR","LIPA","MEG3","MESP2","MTOR","NKX3-2","PSAT1","PSMB8","PTH1R","RTL1","SLC26A2","SLC35D1","SLC37A4","SMARCAL1","SMPD1","TRIP11","TXNDC15","VDR"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_OMPHALOCELE":{"collection":"C5:HPO","systematicName":"M35320","pmid":"","exactSource":"HP:0001539","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001539","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OMPHALOCELE","geneSymbols":["ACTG2","ALG9","AMER1","AR","BHLHA9","CD96","CDKN1C","CEP120","CHD7","CHUK","COL11A1","COL11A2","DACT1","DLK1","DVL3","DYNC2H1","DYNC2I1","DYNC2I2","FGFR1","FLNA","FLNB","FOXF1","FRAS1","FREM1","FREM2","GAD1","GPC3","GPC4","GRIP1","HIC1","HOXD13","HYLS1","IFT80","IFT81","IGF2","ISL1","KCNQ1","KCNQ1OT1","LMOD1","LONP1","LRP2","MAMLD1","MASP1","MBTPS2","MEG3","MID1","MKS1","MMP14","MMP2","MTHFR","MYH11","MYLK","NEK9","NFIX","NUAK2","NXN","PAFAH1B1","PI4KA","PIGN","PORCN","PPP1R12A","PPP2R3C","PTCH1","RAB23","RIPK4","RTL1","SPECC1L","THRA","TMEM216","TMEM94","TP63","TRRAP","TSHB","TTC7A","TWIST2","VANGL2","WDR35","YWHAE","ZIC3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DIASTASIS_RECTI":{"collection":"C5:HPO","systematicName":"M35321","pmid":"","exactSource":"HP:0001540","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001540","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DIASTASIS_RECTI","geneSymbols":["B3GLCT","CDKN1C","CHAMP1","CHST14","COLEC10","COLEC11","DLK1","ELMO2","EZH2","FOXF1","GNPTAB","GPC3","GPC4","GUSB","H19","IGF2","KCNQ1","KCNQ1OT1","MASP1","MEG3","MTOR","PIGQ","PORCN","PPP2R3C","RTL1","SHPK","SOX6","TBCK"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ASCITES":{"collection":"C5:HPO","systematicName":"M35322","pmid":"","exactSource":"HP:0001541","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001541","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ASCITES","geneSymbols":["ABCB11","ABCB4","ABCC6","ACTN4","ADAMTS3","AGGF1","ALG8","ALG9","ARHGAP31","ARL6IP6","ASAH1","ASXL1","ATP6AP2","ATP7B","ATP8B1","BMP2","BUB1","BUB1B","BUB3","CALR","CBL","CCBE1","CD27","CD55","CEP57","CYBB","DCDC2","DEF6","DGUOK","DIS3L2","DLL4","DNASE1L3","DOCK6","DZIP1L","EIF2AK3","EIF5A","ENPP1","EOGT","EPHB4","ERCC4","EWSR1","F5","FAH","FAM111A","FARSB","FAT4","FH","FLI1","FOCAD","FSHR","GALT","GBA1","GBE1","GIMAP5","GNA11","GNB2","GPR35","GRIP1","GUSB","HFE","HSD17B4","IL12A","IL12RB1","IRAK1","IRF5","JAK2","KIF20A","KRT18","LARS2","LBR","LCK","LIPA","LTBP4","MDFIC","MEFV","MMEL1","MPV17","MRPS22","MST1","MTO1","MYBPC3","NEU1","NOTCH1","NPC1","NPC2","NR1H4","OSTM1","PIEZO1","PIGA","PKHD1","PLVAP","POLG","POU2AF1","PRG4","PRKAG2","PRKAR1A","PRKCSH","PTH1R","RBPJ","RFX6","RHBDF2","RHD","RNU7-1","RUNX1","SAT1","SCARB2","SCN4A","SEMA4D","SLC17A5","SMPD1","SOX18","SP110","SPIB","SPP1","SRSF2","STAT4","TAPT1","TCF4","TET2","TFAM","THSD1","TMEM67","TNFSF15","TNPO3","TRIM37","TRIP13","TSC1","TSC2","TTC26","UBR1","USP18","WDR35","WT1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PROMINENT_UMBILICUS":{"collection":"C5:HPO","systematicName":"M41237","pmid":"","exactSource":"HP:0001544","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001544","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROMINENT_UMBILICUS","geneSymbols":["AGPAT2","BSCL2","CAVIN1","FGD1","KAT6A","LMNA","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ANTERIORLY_PLACED_ANUS":{"collection":"C5:HPO","systematicName":"M35323","pmid":"","exactSource":"HP:0001545","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001545","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANTERIORLY_PLACED_ANUS","geneSymbols":["ACADVL","ATN1","B3GLCT","C2CD3","CDC45","CDH11","CDK8","CDON","CHD4","COX7B","DACT1","DCHS1","DDB1","DDX3X","DDX6","DISP1","DLL1","DVL3","ERCC4","ESCO2","FAT4","FGF8","FGFR2","FOXH1","FREM1","GAS1","GLI2","GLI3","HCCS","KAT6B","KYNU","LRPPRC","MED12","NDUFB11","NFIX","NODAL","PGAP2","PGAP3","PIGL","PIGO","PIGV","PIGW","PIGY","POR","PORCN","PTCH1","PTDSS1","RECQL4","RFX6","ROBO1","RRAS2","SALL1","SETBP1","SHH","SIX3","SLC25A24","SNRPB","STIL","SUZ12","TDGF1","TGIF1","TP63","TWIST2","UBR1","ZIC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_RIB_CAGE_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M35324","pmid":"","exactSource":"HP:0001547","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001547","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RIB_CAGE_MORPHOLOGY","geneSymbols":["ABCC9","ABCD4","ACAN","ACP5","ACTA1","ACTB","ADA","ADAMTS10","AFF3","AIFM1","AKT1","ALDH1A2","ALG12","ALPL","AMER1","ANK1","ANKRD11","ANTXR1","APC","AR","ARSB","ARSK","ARSL","ATP6V1B2","ATP7A","ATR","B3GALT6","B3GAT3","B4GAT1","BANF1","BCOR","BGN","BIN1","BMP1","BMP2","BMPER","BRAF","C2CD3","CA2","CANT1","CASZ1","CBL","CCDC22","CCDC8","CDC42BPB","CDC45","CDC6","CDON","CDT1","CENPJ","CEP120","CEP152","CFAP410","CHD7","CHRM3","CHRNA1","CHRND","CHRNG","CHST3","CILK1","CLCN7","COG1","COL10A1","COL11A1","COL11A2","COL13A1","COL1A1","COL1A2","COL2A1","COMP","CPLANE1","CPLX1","CREB3L1","CRTAP","CSF1R","CSGALNACT1","CSPP1","CTBP1","CTNS","CUL7","CYP27B1","CYP2R1","DACT1","DDR2","DDRGK1","DHCR7","DISP1","DLK1","DLL1","DLL3","DNAJC21","DNM2","DNMT3A","DONSON","DPYSL5","DYM","DYNC2H1","DYNC2I1","DYNC2I2","DYNC2LI1","DYNLT2B","EBP","EFL1","EFNB1","EIF2AK3","ERMARD","ESCO2","EVC","EVC2","EXOC6B","EXT1","EXT2","EZH2","FAM111A","FBN1","FERMT1","FGF8","FGFR2","FGFR3","FGFRL1","FIG4","FLI1","FLNA","FLNB","FOXF1","FOXH1","FUCA1","FUZ","GABRD","GALNS","GAS1","GATA4","GATA6","GDF11","GDF3","GDF6","GLB1","GLE1","GLI2","GLI3","GMNN","GNPTAB","GNPTG","GNS","GPC3","GPC4","GPKOW","GPX4","GUSB","H19","HDAC6","HERC1","HES7","HGSNAT","HHAT","HNF1B","HNRNPR","HOXD13","HRAS","HSPG2","IDH1","IDS","IDUA","IFT122","IFT140","IFT172","IFT43","IFT57","IFT80","IFT81","IGF1R","IGF2","IHH","IKBKG","IL1RN","INPPL1","INTU","IRF6","JAG1","KAT6A","KCNAB2","KCNJ8","KCNQ1OT1","KDELR2","KIAA0586","KIAA0753","KLHL40","KLHL41","KMT2A","KRAS","KYNU","LAMA5","LBR","LETM1","LFNG","LIFR","LMNA","LMOD3","LMX1B","LRP4","LRP5","LUZP1","LZTR1","MAF","MAMLD1","MAN2B1","MAP2K1","MAP3K7","MAPK1","MATN3","MEG3","MEOX1","MESD","MESP2","MGAT2","MGP","MMP13","MMP23B","MRAS","MTM1","MTMR14","MTX2","MUSK","MYF5","MYF6","MYH3","NAA10","NAGLU","NALCN","NEB","NEK1","NEK9","NELFA","NFASC","NIPBL","NKX3-2","NODAL","NOG","NRAS","NSD2","NSDHL","NUP88","NXN","OBSL1","OCRL","ODC1","ORC1","ORC4","ORC6","P3H1","P4HB","PAICS","PAM16","PAX3","PAX7","PCGF2","PCYT1A","PDGFRB","PDPN","PEX1","PHEX","PIGG","PLCB3","PLOD1","POLR3A","POP1","POR","PORCN","PPIB","PPP3CA","PRDM16","PRIM1","PRKACA","PRKACB","PRKCZ","PRKG2","PTCH1","PTDSS1","PTEN","PTH1R","PTPN11","PUF60","RAB33B","RAB5IF","RAF1","RASA2","RBM8A","RECQL4","RERE","RIPPLY2","RIT1","RMRP","RNU12","RNU4ATAC","ROR2","RPS19","RPS26","RRAS","RRAS2","RSPO2","RTL1","RTTN","RUNX2","RYR1","SALL1","SBDS","SCARF2","SCN4A","SCUBE3","SEC24D","SELENON","SEMA3E","SERPINH1","SETBP1","SF3B2","SF3B4","SGSH","SH2B1","SHH","SIX3","SIX6","SKI","SLC26A1","SLC26A2","SLC34A1","SLC34A3","SLC35D1","SMAD4","SMO","SNRPB","SNX10","SON","SOS1","SOS2","SOST","SOX2","SOX9","SP7","SPEN","SPRED2","SRCAP","SRP54","STIL","TAPT1","TBC1D24","TBCE","TBCK","TBX15","TBX5","TBX6","TCIRG1","TDGF1","TENT5A","TFE3","TGIF1","TMCO1","TMEM53","TNFRSF11A","TNFRSF11B","TNFSF11","TOR1A","TRAPPC2","TRIP11","TRPV4","TRPV6","TTC21B","UBA1","UBE3B","UBE4B","USP18","VAC14","VANGL1","VDR","VPS33A","VPS35L","WASHC5","WDR19","WDR35","WNT1","WNT3","WNT4","WNT7A","XYLT1","XYLT2","ZIC2","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_OVERGROWTH":{"collection":"C5:HPO","systematicName":"M35325","pmid":"","exactSource":"HP:0001548","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001548","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OVERGROWTH","geneSymbols":["ARHGEF9","CAMK2A","CDKN1C","DICER1","DLK1","DNMT3A","EED","EFEMP2","EHMT1","ESR1","EZH2","FAM20A","FBLN5","FIBP","GPC3","GPC4","GPR101","H3-3B","HECTD4","HERC1","HNRNPK","HRAS","HSPG2","IGF2","KCNQ1","KCNQ1OT1","KMT2C","KRAS","MEG3","NF1","NFIX","NRAS","NSD1","PDGFRB","PIGA","PIK3CA","PIK3R2","PTEN","RNF135","RTL1","SETD2","SOST","SUZ12","TGFB3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_ILEUM_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M35326","pmid":"","exactSource":"HP:0001549","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001549","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ILEUM_MORPHOLOGY","geneSymbols":["BRCA1","BRCA2","BRIP1","CARD8","DIS3L2","ERCC4","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FGFR1","FOXF1","GMPPB","GPC3","GPC4","GTF2H5","MAD2L2","MYH11","PALB2","PI4KA","PPP1R12A","RAD51","RAD51C","RBM10","RBM8A","RELA","RFWD3","RFX6","SLX4","TNFAIP3","TTC7A","UBE2T","XRCC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_UMBILICUS_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M35327","pmid":"","exactSource":"HP:0001551","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001551","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_UMBILICUS_MORPHOLOGY","geneSymbols":["AARS1","ABCC8","ABCC9","ACTG2","ADAMTS2","ADNP","AEBP1","AGA","AGPAT2","ALDH18A1","ANTXR1","APC2","ARID1B","ARSB","ARVCF","ARX","ATAD1","ATP6V0A2","ATP7A","ATRX","AUTS2","B3GLCT","BAZ1B","BCL11B","BCL7B","BCOR","BGN","BMP1","BRCA1","BRCA2","BRIP1","BSCL2","BUD23","C1R","C1S","CARS1","CASK","CAVIN1","CCBE1","CDCA7","CDH11","CDKL5","CHAMP1","CHD3","CHD7","CHRNG","CHST14","CLDN19","CLIP2","COL1A1","COL2A1","COL3A1","COL5A1","COL5A2","COLEC10","COLEC11","COMT","COX11","CREBBP","CSNK2A1","DGCR2","DGCR6","DGCR8","DICER1","DLK1","DLL3","DMXL2","DNAJC30","DNMT3A","DNMT3B","DUOX2","DUOXA2","DVL1","DVL3","EED","EFNB1","EHMT1","EIF4H","ELMO2","ELN","EN1","EOGT","ERCC2","ERCC3","ERCC4","ESS2","EZH2","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FBLN5","FBN1","FBXW11","FGD1","FGFR2","FKBP14","FKBP6","FLNA","FOCAD","FRAS1","FREM2","FTO","FZD2","GATA6","GJA1","GLI3","GLIS3","GLRA1","GLRB","GMNN","GNAO1","GNPTAB","GP1BB","GPC3","GPC4","GPC6","GPHN","GRIN1","GRIP1","GRM7","GTF2E2","GTF2H5","GTF2I","GTF2IRD1","GTF2IRD2","GUSB","GZF1","H19","H4C3","HDAC4","HELLS","HES7","HESX1","HIRA","HIVEP2","HSPG2","HYMAI","IDS","IDUA","IFT140","IGF2","IKBKG","IPO8","IRF6","ISL1","IYD","JMJD1C","KAT6A","KCNA1","KCNH1","KCNJ11","KCNJ8","KDM3B","KIF7","KMT2C","KNSTRN","KRT1","LBR","LFNG","LHX3","LHX4","LIMK1","LMNA","LMOD1","LRP2","LTBP4","MAD2L2","MAN2B1","MAPRE2","MASP1","MBTPS2","MED12","MED13L","MEG3","MEGF8","MESP2","METTL27","MID1","MLXIPL","MPLKIP","MSX1","MTOR","MYH11","MYH3","MYLK","NAA10","NALCN","NCF1","NECTIN1","NEU1","NEUROD2","NFIX","NIPBL","NKX2-5","NOTCH1","NOTCH2","NOTCH3","NSD1","NSDHL","NXN","OCLN","OCRL","PACS1","PALB2","PAX8","PHGDH","PIGL","PIGP","PIGQ","PIGS","PIGW","PIK3CD","PLAGL1","PLOD1","PNKP","POLR3GL","PORCN","POU1F1","PPP2CA","PRDM5","PRKG2","PROP1","PRR12","PTCH1","RAB23","RAC1","RAD51","RAD51C","RFC2","RFWD3","RFX7","RIN2","RIPK4","RIPPLY2","RNF113A","RNF2","ROR2","RREB1","RTL1","SALL1","SCN1B","SCN2A","SEC24C","SEC31A","SETBP1","SETD2","SGSH","SH3PXD2B","SHANK3","SIK1","SKI","SLC25A22","SLC25A24","SLC26A2","SLC2A10","SLC32A1","SLC35C1","SLC35D1","SLC5A5","SLC6A5","SLX4","SMAD3","SMARCA2","SMARCB1","SNIP1","SOX6","SPECC1L","SRCAP","STX1A","SUZ12","TARS1","TBL2","TBX1","TENT5A","TFE3","TG","TGDS","TGFBR2","TMEM270","TMEM70","TOR1A","TP63","TPO","TRAF7","TRIM8","TRIP11","TRPV6","TRRAP","TSHB","TSHR","TUBB","TWIST2","UBE2T","UFD1","VPS37D","WNT5A","XRCC2","ZBTB24","ZBTB7A","ZFP57","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BARREL_SHAPED_CHEST":{"collection":"C5:HPO","systematicName":"M35328","pmid":"","exactSource":"HP:0001552","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001552","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BARREL_SHAPED_CHEST","geneSymbols":["ACAN","ACP5","CHST3","CILK1","COL13A1","COL2A1","DYM","EIF2AK3","FUCA1","HRAS","KDELR2","LBR","LRP5","MYH3","P3H1","RAB33B","RMRP","TNFRSF11B","TRAPPC2","TRIP11","TRPV4","VPS33A","WNT7A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ASYMMETRY_OF_THE_THORAX":{"collection":"C5:HPO","systematicName":"M35329","pmid":"","exactSource":"HP:0001555","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001555","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ASYMMETRY_OF_THE_THORAX","geneSymbols":["AKT1","AMER1","ANTXR1","CDC42BPB","H19","HERC1","IGF2","KCNQ1OT1","MESD","PTEN","RMRP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PRENATAL_MOVEMENT_ABNORMALITY":{"collection":"C5:HPO","systematicName":"M35330","pmid":"","exactSource":"HP:0001557","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001557","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PRENATAL_MOVEMENT_ABNORMALITY","geneSymbols":["AARS1","ACTA1","ACTL6B","ADCY6","ADGRG6","AGRN","ALDH7A1","ALG14","ALG8","ALG9","AP3B2","ARV1","ASCC1","ASCL1","ASNS","ATP1A2","ATP1A3","ATP6V1A","B3GLCT","BICD2","BIN1","BRD4","CACNA1A","CACNA1B","CACNA2D1","CAMKMT","CCDC174","CCDC47","CDC42BPB","CDK19","CELF2","CHAT","CHRNA1","CHRND","CHRNE","CHRNG","CHUK","CLPB","CLTC","CNKSR2","CNTN1","CNTNAP1","COL12A1","COL13A1","COL25A1","COL6A1","COL6A2","COL6A3","COX15","CPLX1","CPSF3","CRPPA","CTBP1","CYFIP2","DALRD3","DEAF1","DHCR7","DHDDS","DMPK","DNA2","DNM1","DNM1L","DNM2","DOCK6","DOK7","DPAGT1","DPH5","DPYSL5","EBF3","EEF1A2","ERBB3","ERCC5","ERGIC1","EXOSC9","FBXO28","FGF12","FGF13","FGFR3","FGFRL1","FKBP14","FLII","FXR1","FZR1","GABBR2","GABRA2","GABRA5","GABRB2","GABRG2","GBA1","GBE1","GFPT1","GGPS1","GLDN","GLE1","GLRB","GMPPB","GNB2","GOSR2","GPKOW","GRIN2D","H19","H4C3","HACD1","HCN1","HDAC8","HERC2","HSPG2","IGF2","IGHMBP2","IL2RB","IQSEC2","ITGA7","KBTBD13","KCNA2","KCNB1","KIF21A","KIF5C","KLHL40","KLHL41","LETM1","LGI4","LMNA","LMOD3","MAGEL2","MAP3K20","MAP3K7","MEGF10","MKRN3","MPZ","MTM1","MTMR14","MUSK","MYCN","MYF6","MYH3","MYL1","MYL2","MYMK","MYO9A","MYOD1","MYPN","NAA10","NAA20","NALCN","NDN","NEB","NECAP1","NEK9","NELFA","NEXMIF","NFASC","NIPBL","NPAP1","NSD1","NSD2","NTRK2","NUP188","NUP88","NUS1","OCA2","ODC1","PACS2","PARS2","PAX7","PEX19","PEX3","PGAP2","PHGDH","PHOX2B","PIGG","PIGS","PLOD1","PLPBP","POLR2A","PPM1B","PPP3CA","PREPL","PRUNE1","PSAT1","PTRH2","PWAR1","PWRN1","RAD21","RAI1","RAPSN","RET","RIPK4","RYR1","SCN3A","SCN4A","SCN8A","SCYL2","SELENON","SHQ1","SLC13A5","SLC16A2","SLC18A3","SLC1A2","SLC25A1","SLC25A19","SLC25A26","SLC38A3","SLC3A1","SLC5A7","SMC1A","SMC3","SMN1","SNAP25","SNORD115-1","SNORD116-1","SNRPN","SOX10","SYNE1","SYNGAP1","SYNJ1","SYT2","SZT2","TBCK","TMCO1","TNNC2","TOR1A","TPM2","TPM3","TRAIP","TRAK1","TRIP4","TRPV4","TSFM","TUBA1A","UBA1","UBA5","UNC45B","USP7","VAMP1","VPS13B","WDR62","WWOX","YWHAG","ZBTB42","ZC4H2","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_AMNIOTIC_FLUID":{"collection":"C5:HPO","systematicName":"M35331","pmid":"","exactSource":"HP:0001560","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001560","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_AMNIOTIC_FLUID","geneSymbols":["ABCB11","ABCB4","ABCC6","ACE","ACTA1","ACTG2","ADAMTS3","ADARB1","ADAT3","ADCY6","ADGRG6","ADNP","AGRN","AGT","AGTR1","AKT2","ALB","ALDH1A2","ALDH7A1","ALG1","ALG12","ALG14","ALG8","ALG9","ALPL","ALX4","AMER1","AMMECR1","ANO1","AQP2","ARVCF","ASCC1","ASCL1","ASXL1","ASXL3","ATAD3A","ATN1","ATP1A2","ATP6V0A1","ATP6V1B2","ATP6V1E1","ATP8B1","AVPR2","B3GALT6","B3GLCT","B9D1","B9D2","BICD2","BIN1","BMPER","BNC2","BRAF","BRCA1","BRCA2","BRIP1","BSND","BUB1","BUB1B","BUB3","C1QBP","CA2","CALCRL","CBL","CC2D2A","CCDC47","CD96","CDC42BPB","CDK13","CDKN1C","CEP290","CEP55","CEP57","CERT1","CFL2","CHAT","CHD7","CHRM3","CHRNA1","CHRND","CHRNG","CILK1","CLCN7","CLCNKA","CLCNKB","CLPB","CLTCL1","CNTN1","CNTNAP1","COASY","COG5","COL11A2","COL13A1","COL25A1","COL2A1","COMT","COQ7","COX14","CPT2","CRB2","CREBBP","CSNK2A1","CSPP1","DALRD3","DDX6","DEF6","DHCR7","DHPS","DIS3L2","DLK1","DMPK","DNM2","DOCK6","DOK7","DONSON","DPF2","DPH5","DPM2","DSP","DTYMK","DYNC2I1","DYNC2I2","DYNC2LI1","DYRK1A","DZIP1L","EBF3","EBP","EFEMP2","EGFR","ENPP1","EP300","ERBB3","ERCC4","ERF","ERGIC1","ESCO2","EXOSC9","EXT2","EXTL3","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FARSA","FARSB","FBLN5","FBN1","FGF20","FGFR3","FH","FIG4","FKBP14","FLNB","FLVCR2","FOXE1","FOXF1","FRA10AC1","FREM2","FUT8","FXR1","GATA1","GATA6","GBA1","GBE1","GFRA1","GLDN","GLE1","GLI3","GMPPB","GNB2","GNPTAB","GP1BB","GPC3","GPC4","GREB1L","GRIP1","GRM7","H19","HACD1","HADHA","HBA1","HBA2","HERC2","HIC1","HIRA","HMGA2","HNF1B","HOXD13","HRAS","HS2ST1","HSD17B4","HSPA9","HSPG2","HYLS1","HYMAI","IARS1","IBA57","IFIH1","IGF2","IKZF1","IL6ST","INPPL1","INVS","IPO8","IRF6","ITGA6","ITGA7","ITGA8","ITGB4","JMJD1C","JUP","KAT6B","KBTBD13","KCNJ1","KCNJ6","KDM3B","KIAA0586","KIDINS220","KIF14","KIF21A","KIF7","KLHL40","KLHL41","KMT2D","KRAS","LAMB2","LARS2","LBR","LHX1","LIFR","LMNA","LMOD1","LMOD3","LONP1","LTBP3","LZTR1","MAD2L2","MADD","MAFB","MAGED2","MAGEL2","MAMLD1","MAP2K2","MAP3K20","MBTPS2","MDFIC","MEG3","MKRN3","MKS1","MOGS","MSX1","MTHFR","MTM1","MTMR14","MTO1","MUSK","MYCN","MYF6","MYH11","MYH3","MYL1","MYL2","MYL9","MYLK","MYO9A","MYOD1","MYPN","NAA10","NALCN","NDUFA6","NDUFB7","NEB","NECTIN1","NEK8","NEK9","NPAP1","NPC2","NPHP3","NR1H4","NRAS","NRCAM","NUP88","ODC1","OSGEP","OTUD5","OTX2","PAFAH1B1","PAICS","PALB2","PAX2","PBX1","PCGF2","PDX1","PGAP2","PGAP3","PHACTR1","PHGDH","PHIP","PHOX2B","PI4KA","PIEZO1","PIGA","PIGL","PIGN","PIGO","PIGQ","PIGV","PIGW","PIGY","PKHD1","PLAG1","PLAGL1","PLEC","PLPBP","PLVAP","PMM2","PNPO","POR","PPP1CB","PRDM13","PRMT7","PRRX1","PSAT1","PTH1R","PUF60","PWAR1","PWRN1","RAD51","RAD51C","RAF1","RAPSN","RBM10","REN","RET","RFWD3","RHAG","RHCE","RHD","RIT1","RMND1","RNF2","RNU4ATAC","ROBO1","RPGRIP1","RPGRIP1L","RPL10","RPL11","RRAS2","RREB1","RSPO2","RTL1","RYR1","SATB1","SCN4A","SCN8A","SCYL2","SEC24C","SEC24D","SELENON","SEMA3E","SETD1A","SFXN4","SHOC2","SIN3A","SKIC3","SLC12A1","SLC16A2","SLC18A3","SLC25A1","SLC25A12","SLC25A24","SLC25A26","SLC25A46","SLC26A2","SLC26A3","SLC27A4","SLC2A1","SLC35A2","SLC35D1","SLC5A7","SLC6A5","SLC9A3","SLX4","SMG9","SNAP25","SNORD115-1","SNORD116-1","SNRPB","SNRPN","SOD1","SOS1","SOX17","SOX9","SPINT2","SPOP","SPRED2","STRADA","SYNE1","SYT2","SZT2","TALDO1","TAPT1","TBC1D24","TBCD","TBCK","TBX1","TCTN1","TCTN2","TCTN3","TFAM","TMCO1","TMEM107","TMEM216","TMEM231","TMEM237","TMEM67","TMEM70","TNNC2","TOR1A","TP63","TPI1","TPM2","TPM3","TRAIP","TRAPPC12","TRIP11","TRIP13","TRIP4","TRPV6","TSEN2","TSEN54","TTC26","TTC7A","TUBA1A","TWIST1","TXNDC15","UBE2A","UBE2T","UFD1","UQCC2","UROD","UROS","VAC14","VAMP1","VANGL2","VPS33B","WDR35","WDR73","WDR81","WNT3","WNT4","WNT9B","XRCC2","YWHAE","ZBTB42","ZC4H2","ZIC3","ZMPSTE24","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_POLYHYDRAMNIOS":{"collection":"C5:HPO","systematicName":"M35332","pmid":"","exactSource":"HP:0001561","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001561","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POLYHYDRAMNIOS","geneSymbols":["ABCC6","ACTA1","ACTG2","ADAMTS3","ADARB1","ADAT3","ADCY6","ADGRG6","AGRN","AKT2","ALDH1A2","ALG12","ALG14","ALG9","ALPL","AMER1","AMMECR1","ANO1","AQP2","ARVCF","ASCC1","ASCL1","ASXL1","ASXL3","ATAD3A","ATP1A2","ATP6V0A1","ATP6V1B2","AVPR2","B3GALT6","B3GLCT","BICD2","BIN1","BRAF","BSND","BUB1","BUB1B","BUB3","CALCRL","CBL","CCDC47","CD96","CDC42BPB","CDK13","CEP57","CFL2","CHAT","CHD7","CHRNA1","CHRND","CHRNG","CILK1","CLCN7","CLCNKA","CLCNKB","CLPB","CNTN1","CNTNAP1","COASY","COL11A2","COL13A1","COL2A1","COMT","CRB2","CREBBP","CSNK2A1","DHCR7","DIS3L2","DLK1","DMPK","DNM2","DOK7","DPF2","DPH5","DPM2","DTYMK","DYNC2I1","DYNC2I2","DYNC2LI1","DYRK1A","EBP","EGFR","ENPP1","EP300","ERBB3","ERF","ESCO2","EXT2","EXTL3","FANCB","FANCF","FGFR3","FH","FIG4","FKBP14","FLNB","FLVCR2","FOXE1","FOXF1","FUT8","GBA1","GBE1","GLDN","GLE1","GP1BB","GPC3","GPC4","GRM7","HACD1","HBA1","HBA2","HERC2","HIC1","HIRA","HOXD13","HRAS","HSD17B4","HSPG2","HYLS1","IBA57","IKZF1","INPPL1","IPO8","IRF6","ITGA6","ITGA7","ITGB4","JMJD1C","KAT6B","KBTBD13","KCNJ1","KCNJ6","KDM3B","KIAA0586","KIDINS220","KIF21A","KIF7","KLHL40","KLHL41","KMT2D","KRAS","LBR","LMNA","LMOD1","LMOD3","LONP1","LTBP3","LZTR1","MADD","MAFB","MAGED2","MAGEL2","MAMLD1","MAP2K2","MAP3K20","MDFIC","MEG3","MKRN3","MOGS","MSX1","MTHFR","MTM1","MTMR14","MUSK","MYCN","MYF6","MYH11","MYH3","MYL1","MYL2","MYLK","MYO9A","MYOD1","MYPN","NALCN","NEB","NECTIN1","NPAP1","NPC2","NPHP3","NRAS","NRCAM","NUP88","ODC1","OTUD5","OTX2","PAFAH1B1","PAICS","PCGF2","PHACTR1","PHGDH","PHOX2B","PI4KA","PIEZO1","PIGA","PIGN","PIGQ","PIGY","PLEC","PLVAP","PPP1CB","PRDM13","PRMT7","PRRX1","PSAT1","PTH1R","PWAR1","PWRN1","RAF1","RAPSN","RET","RHD","RIT1","RMND1","RPL10","RPL11","RRAS2","RREB1","RSPO2","RTL1","RYR1","SCN4A","SCN8A","SCYL2","SEC24C","SELENON","SEMA3E","SHOC2","SIN3A","SKIC3","SLC12A1","SLC16A2","SLC18A3","SLC25A1","SLC25A12","SLC25A26","SLC25A46","SLC26A2","SLC26A3","SLC27A4","SLC2A1","SLC35D1","SLC5A7","SLC9A3","SMG9","SNAP25","SNORD115-1","SNORD116-1","SNRPB","SOD1","SOS1","SOX17","SOX9","SPINT2","SPOP","SPRED2","STRADA","SYNE1","SYT2","SZT2","TAPT1","TBC1D24","TBCD","TBX1","TFAM","TMCO1","TNNC2","TOR1A","TP63","TPM2","TPM3","TRAIP","TRAPPC12","TRIP11","TRIP13","TRPV6","TSEN2","TSEN54","TTC26","TTC7A","TUBA1A","TWIST1","UFD1","VAC14","VAMP1","VANGL2","WDR35","WDR81","WNT3","YWHAE","ZBTB42","ZC4H2","ZIC3","ZMPSTE24","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_OLIGOHYDRAMNIOS":{"collection":"C5:HPO","systematicName":"M35333","pmid":"","exactSource":"HP:0001562","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001562","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OLIGOHYDRAMNIOS","geneSymbols":["ACE","ACTG2","AGT","AGTR1","ALB","ALG8","ALG9","ALX4","AMER1","ASCL1","ATN1","ATP6V1E1","B3GALT6","B9D1","B9D2","BIN1","BMPER","BNC2","BRCA1","BRCA2","BRIP1","BUB1B","C1QBP","CA2","CC2D2A","CDC42BPB","CDKN1C","CEP290","CEP55","CERT1","CHRM3","CLTCL1","COG5","COL25A1","COQ7","COX14","CPT2","CSPP1","DALRD3","DDX6","DEF6","DHPS","DOCK6","DONSON","DPF2","DSP","DYRK1A","DZIP1L","EBF3","EFEMP2","ERCC4","ERGIC1","EXOSC9","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FARSA","FARSB","FBLN5","FBN1","FGF20","FRA10AC1","FREM2","FXR1","GATA6","GFRA1","GLI3","GMPPB","GNB2","GNPTAB","GREB1L","GRIP1","H19","HBA1","HBA2","HERC2","HMGA2","HNF1B","HS2ST1","HSPA9","HYMAI","IARS1","IFIH1","IGF2","IL6ST","INPPL1","INVS","ITGA8","JUP","KIF14","LAMB2","LARS2","LHX1","LIFR","MAD2L2","MAGEL2","MBTPS2","MKRN3","MKS1","MTO1","MYH11","MYH3","MYL9","MYLK","NAA10","NALCN","NDUFA6","NDUFB7","NEK8","NEK9","NPAP1","NPHP3","OSGEP","PALB2","PAX2","PBX1","PDX1","PGAP2","PGAP3","PHOX2B","PIGL","PIGO","PIGV","PIGW","PIGY","PKHD1","PLAG1","PLAGL1","POR","PUF60","PWAR1","PWRN1","RAD51","RAD51C","RBM10","REN","RET","RFWD3","RHAG","RHCE","RHD","RNF2","RNU4ATAC","RPGRIP1","RPGRIP1L","SATB1","SCYL2","SEC24D","SETD1A","SFXN4","SLC25A24","SLC35A2","SLX4","SNORD115-1","SNORD116-1","SNRPN","SZT2","TALDO1","TBCK","TCTN1","TCTN2","TCTN3","TMEM107","TMEM216","TMEM231","TMEM237","TMEM67","TMEM70","TPI1","TRIP4","TXNDC15","UBE2A","UBE2T","UQCC2","VPS33B","WDR73","WNT4","WNT9B","XRCC2","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FETAL_POLYURIA":{"collection":"C5:HPO","systematicName":"M35334","pmid":"","exactSource":"HP:0001563","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001563","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FETAL_POLYURIA","geneSymbols":["BSND","CLCNKA","CLCNKB","FGF20","GFRA1","GREB1L","ITGA8","KCNJ1","MAGED2","RET","SLC12A1","WNT9B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_WIDELY_SPACED_MAXILLARY_CENTRAL_INCISORS":{"collection":"C5:HPO","systematicName":"M46065","pmid":"","exactSource":"HP:0001566","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001566","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WIDELY_SPACED_MAXILLARY_CENTRAL_INCISORS","geneSymbols":["ABCC9","ALX3","ANKRD11","ATRX","CHSY1","DNMT3A","FREM1","GATAD2B","RNF2","STAG1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MULTIPLE_IMPACTED_TEETH":{"collection":"C5:HPO","systematicName":"M43262","pmid":"","exactSource":"HP:0001571","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001571","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MULTIPLE_IMPACTED_TEETH","geneSymbols":["CDH11","FLNA","HOXD13","PTH1R","SH3BP2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MACRODONTIA":{"collection":"C5:HPO","systematicName":"M35336","pmid":"","exactSource":"HP:0001572","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001572","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MACRODONTIA","geneSymbols":["ABCC9","ANKRD11","ATP6V1B2","BRCA1","BRF1","CACNA1I","CDK10","COL11A1","CTCF","DHX37","FARS2","GJA1","GRIA3","IRF6","KCNK9","KCNMA1","MAPK8IP3","MBD5","MGAT2","MSX1","NECTIN1","PACS2","PQBP1","PURA","SMOC1","TBC1D24","TP63","VPS13B","VPS51"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PRIMARY_HYPERCORTISOLISM":{"collection":"C5:HPO","systematicName":"M41238","pmid":"","exactSource":"HP:0001579","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001579","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PRIMARY_HYPERCORTISOLISM","geneSymbols":["CBX2","CDKN1A","CDKN1B","CDKN2B","CDKN2C","GNAS","MEN1","PDE11A","PRKACA","PRKAR1A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RECURRENT_SKIN_INFECTIONS":{"collection":"C5:HPO","systematicName":"M35338","pmid":"","exactSource":"HP:0001581","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001581","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_SKIN_INFECTIONS","geneSymbols":["ADA","ADAM17","AIRE","AP3B1","ATRX","BLNK","BLOC1S6","BRAF","BTD","BTK","CARD9","CARMIL2","CD247","CD3D","CD3E","CD3G","CD40LG","CD79A","CD79B","CDH23","CFI","CHST14","CIB1","CIITA","CLEC7A","CLPB","COL7A1","CORO1A","CTSC","CYBA","CYBB","DCLRE1C","DOCK2","DOCK8","DSE","DSG1","EGFR","ELANE","EPG5","EPHB4","FERMT1","FERMT3","FOXC2","FOXP1","FOXP3","GATA1","GFI1","GINS1","GJB2","GJB6","GJC2","HYOU1","IGHM","IGLL1","IKBKB","IKBKG","IL10RA","IL17F","IL17RA","IL17RC","IL2RA","IL2RG","IL6R","IL6ST","IL7","IL7R","ITGA6","ITGB2","ITGB4","JAK3","KNSTRN","KRT1","KRT14","KRT5","LAMA3","LAMB3","LAMC2","LCK","LCP2","LRRC8A","LYST","MBL2","MBTPS2","MMP1","MRTFA","MVK","MYD88","NAE1","NCF1","NCF2","NFE2L2","NFKB1","NFKBIA","NR3C1","OTULIN","PGM3","PIK3CD","PIK3CG","PIK3R1","PKP1","POLR3A","PRDM12","PSEN1","PSENEN","RFX5","RFXANK","RFXAP","RORC","SASH3","SHANK3","SLC39A7","SP110","SPI1","SPINK5","SREBF1","SRP19","SRP54","STAT1","STAT3","STK4","SYK","TCF3","TCIRG1","TFRC","TLR8","TMC6","TMC8","TOM1","TP53","TRAC","TRAF3IP2","UBE2A","UROD","UROS","USP48","USP8","WDR1","XIAP","ZAP70","ZNF341"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_REDUNDANT_SKIN":{"collection":"C5:HPO","systematicName":"M35339","pmid":"","exactSource":"HP:0001582","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001582","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUNDANT_SKIN","geneSymbols":["ADAMTS2","AEBP1","ALDH18A1","ALG12","ANTXR1","ATP6V0A2","ATP6V1A","ATP6V1E1","ATP7A","B4GALT1","BAZ1B","BCL7B","BRAF","BUD23","CD96","CDK13","CEP55","CHST14","CLIP2","COL3A1","CSPP1","DLK1","DNAJC30","DSE","EBP","EED","EFEMP2","EIF4H","ELN","EXT1","EZH2","FBLN5","FGF20","FGFR2","FGFR3","FIG4","FKBP6","FOXC1","GATA1","GGCX","GORAB","GPX4","GTF2I","GTF2IRD1","GTF2IRD2","H1-4","HPGD","HRAS","KIAA0586","KRAS","LIMK1","LTBP1","LTBP4","MAP2K1","MAP2K2","MEG3","METTL27","MLXIPL","MRPS16","MRPS22","NAA10","NCF1","NDUFB10","NDUFB11","NPR2","NSD1","OTUD5","PEX1","PITX2","PRMT7","PTDSS1","PYCR1","RAD21","RFC2","RIN2","RPS6KA3","RTL1","SH3PXD2B","SLC25A24","SLC2A10","SLC6A8","STX1A","SUZ12","TBL2","TBX15","TMEM270","TRAF7","TRPS1","TWIST2","VAC14","VPS37D","WDR37","WDR81"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ROTARY_NYSTAGMUS":{"collection":"C5:HPO","systematicName":"M35340","pmid":"","exactSource":"HP:0001583","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001583","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ROTARY_NYSTAGMUS","geneSymbols":["ACBD5","ALX4","CLN3","ELOVL1","ERLIN2","GFER","GJC2","KCNN2","LYST","MKS1","MPC1","MPDZ","NPHP4","PLP1","PNPO","PPP1R21","PPP2R5D","RARS1","SLC16A2","SPTBN2","TELO2","TMEM106B","TMEM216"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BELL_SHAPED_THORAX":{"collection":"C5:HPO","systematicName":"M35341","pmid":"","exactSource":"HP:0001591","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001591","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BELL_SHAPED_THORAX","geneSymbols":["ABCD4","ANTXR1","BMPER","CANT1","CEP120","COL11A1","COL11A2","COL1A1","COL1A2","COL2A1","CSF1R","CSGALNACT1","CSPP1","DDR2","DDRGK1","DYNC2I2","FGFR2","FLNB","HES7","HHAT","IFT172","INPPL1","KDELR2","KIAA0586","PAM16","PAX7","PEX1","SLC26A2","SNRPB","TBX15","TRIP11","UBE3B","XYLT1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SELECTIVE_TOOTH_AGENESIS":{"collection":"C5:HPO","systematicName":"M35342","pmid":"","exactSource":"HP:0001592","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001592","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SELECTIVE_TOOTH_AGENESIS","geneSymbols":["ARHGAP29","ARHGEF38","ATP6V1B2","ATR","AXIN2","B3GLCT","BCOR","BLM","BMP4","CDC42BPB","CDH1","CDH11","CDH3","CEP152","COBLL1","DDX59","DLG1","DLX3","DLX4","EDA","EDARADD","EIF4A3","ERCC3","FGF3","FGFR1","FLNA","GJA1","GLI2","GREM2","IRF6","LRP6","MSX1","NAA10","NECTIN1","NEK1","PAX9","PDGFRA","RIC1","RIPK4","SUMO1","TCF12","TGFA","TP63","WNT10A","WNT10B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ALOPECIA":{"collection":"C5:HPO","systematicName":"M35343","pmid":"","exactSource":"HP:0001596","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001596","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ALOPECIA","geneSymbols":["AARS1","ABCA12","ABCD1","ABHD5","ACVR1","ADA","AEBP1","AHSG","AIRE","ALMS1","ALOX12B","ALOXE3","ALX4","ANAPC1","ANTXR1","AP1B1","APCDD1","ARHGAP31","ARMC5","ATP7A","ATR","BANF1","BANK1","BAP1","BCS1L","BLK","BLM","BMP2","BTD","BTK","BTNL2","C4A","C4B","CARS1","CASR","CD28","CDSN","CERS3","CHD7","CLDN1","COL17A1","COL18A1","COL3A1","COL7A1","CR2","CSTB","CTC1","CTLA4","CWC27","CYP11B1","DCAF17","DCLRE1C","DDB2","DKC1","DLL4","DMXL2","DNASE1","DOCK6","DOLK","DSG4","DSP","DVL1","DVL3","EBP","ECM1","EDAR","EDARADD","EDNRA","EOGT","EPS8L3","ERCC2","ERCC3","ERCC4","ERCC5","ETS1","EXOSC2","FAM111B","FCGR2B","FCGR3B","FGFR1","FLI1","FLNA","FOXN1","FOXP3","FTL","FZD2","GATA1","GJA1","GJB2","GJB3","GJB4","GJB6","GNA11","GNAS","GTF2E2","GTF2H5","H6PD","HEPHL1","HFE","HLA-B","HLA-DQA1","HLA-DQB1","HLA-DRA","HLA-DRB1","HLCS","HR","HRAS","HRURF","HTRA1","IGHG1","IKBKG","IL10","IL2RA","IL2RG","IL7R","IPO8","IRAK1","IRF5","ITGAM","ITGB4","ITGB6","JAZF1","JUP","KANSL1","KCTD1","KDF1","KDM5C","KDSR","KIAA0319L","KLHL24","KRAS","KRT14","KRT16","KRT17","KRT5","KRT6A","KRT6B","KRT74","KRT81","KRT83","KRT85","KRT86","LAMA3","LAMB3","LAMC2","LIG4","LIPH","LMNA","LORICRIN","LPAR6","LSS","MAP2K2","MBTPS2","MCCC2","MECP2","MGP","MMP1","MOGS","MPLKIP","NECTIN1","NECTIN4","NFKB1","NFKB2","NHP2","NIPAL4","NOP10","NOTCH1","NPM1","NRAS","NSDHL","NXN","ODC1","OFD1","P4HA2","PADI3","PARN","PDCD1","PERP","PEX7","PI4KA","PIK3R1","PKP1","PLEC","PNPLA1","PNPLA6","POLR3A","PORCN","PRKACA","PRKCD","PTPN22","PXK","RAG1","RAG2","RBM28","RBPJ","RECQL4","RHOA","RIN2","RIPK4","RMRP","RNF113A","RNU4ATAC","ROR2","RPL21","RTEL1","SASH1","SAT1","SDR9C7","SLC27A4","SLC29A3","SLC30A2","SLC39A4","SLITRK1","SMARCA2","SNRPE","SOX18","SPP1","SREBF1","STAT4","STUB1","SULT2B1","TARS1","TERC","TERT","TGM1","TGM3","TINF2","TLR7","TNFAIP3","TNFRSF1B","TNFSF4","TNIP1","TP63","TRAC","TREX1","TRPV3","TTC7A","TYMS","UBE2L3","UBR1","UQCRFS1","UROD","UROS","USB1","VDR","WNT10A","WNT5A","WRAP53","WRN","XPA","XPC","ZMPSTE24","ZNF341","ZPR1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_NAIL":{"collection":"C5:HPO","systematicName":"M35344","pmid":"","exactSource":"HP:0001597","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001597","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_NAIL","geneSymbols":["AAGAB","AARS1","ABCA1","ABCA12","ACAN","ACD","ACTG2","ACTL6B","ACVRL1","ADAM17","ADAMTSL2","ADNP","AFF4","AIP","AIRE","AKT1","ALDH3A2","ALG12","ALG3","ALOX12B","ALOXE3","ANAPC1","ANGPT1","ANGPT2","ANTXR1","AP1B1","AP1S3","APC","APC2","APCDD1","ARHGAP31","ARID1A","ARID1B","ARID2","ARX","ASPRV1","ATL1","ATP2A2","ATP6V0A2","ATP6V1B2","ATR","B3GALT6","BANF1","BAZ1B","BCL7B","BCR","BHLHA9","BICRA","BLM","BMP2","BMP4","BMPER","BMPR1B","BRAF","BUD23","CAMK2B","CAMK2G","CARD14","CARS1","CASK","CASR","CAST","CCDC22","CCDC32","CD151","CD28","CDH1","CDH3","CDIN1","CDKL5","CDKN1C","CDSN","CEBPE","CENPT","CERS3","CKAP2L","CLEC7A","CLIP2","COL11A1","COL11A2","COL14A1","COL17A1","COL7A1","COX7B","CPLX1","CPT2","CRKL","CSTA","CSTB","CTBP1","CTC1","CTLA4","CTNND1","CTSC","CTSK","CWC27","CYB5A","CYB5R3","CYP4F22","DCLRE1B","DHX37","DKC1","DLK1","DLL4","DLX3","DMXL2","DNAJC21","DNAJC30","DOCK6","DPF2","DPH1","DPH2","DPM1","DPYD","DPYSL5","DSC3","DSG1","DSG4","DSP","DST","DVL1","DVL3","DYNC2LI1","EBP","ECE1","EDA","EDAR","EDARADD","EED","EFNB1","EGFR","EIF4H","EIF5A","ELN","ENG","ENPP1","EOGT","EPS8L3","ERCC2","ERCC3","EVC","EVC2","EXT2","EZH2","FAM111B","FBXO28","FERMT1","FGF10","FGF9","FGFR1","FGFR2","FGFR3","FGFRL1","FHL1","FIG4","FKBP6","FLNA","FLNB","FLT4","FOCAD","FOXC2","FOXN1","FOXP3","FRAS1","FTL","FTO","FUCA1","FZD2","FZD6","GDF5","GJA1","GJB2","GJB3","GJB4","GJB6","GJC2","GLI1","GLI3","GNA11","GNAO1","GPC3","GPC4","GPR101","GRHL2","GRIN1","GRM7","GSN","GTF2E2","GTF2H5","GTF2I","GTF2IRD1","GTF2IRD2","H3-3B","HCCS","HEPHL1","HGD","HHAT","HLA-B","HLA-C","HMGA2","HOXA13","HOXC13","HPGD","HRAS","HUWE1","HYMAI","IFIH1","IFNG","IFT122","IFT43","IFT52","IGF2","IHH","IKBKG","IL11RA","IL17F","IL17RA","IL17RC","IL36RN","IL6ST","INPPL1","INSR","IRF6","ITGA3","ITGA6","ITGB4","JUP","KANK2","KCNA1","KCNH1","KCNMA1","KCNN3","KCTD1","KDF1","KDM1A","KDSR","KIF11","KIF15","KIF1A","KLHL24","KMT2D","KRAS","KRT1","KRT10","KRT14","KRT16","KRT17","KRT5","KRT6A","KRT6B","KRT74","KRT81","KRT83","KRT85","KRT86","KRT9","LAMA3","LAMB3","LAMC2","LETM1","LIG4","LIMK1","LIPH","LIPN","LMNA","LMX1B","LORICRIN","LPAR6","LRP4","LSS","MACROH2A1","MAF","MAP2K1","MAP2K2","MAP3K20","MAPK1","MARS1","MBTPS2","MCTP2","MEG3","METTL27","MLXIPL","MMP1","MPLKIP","MSX1","MTX2","MVK","MYOF","NAF1","NCF1","NDUFB11","NECTIN1","NECTIN4","NEPRO","NEUROD2","NFKB2","NFKBIA","NHP2","NIPAL4","NLRP1","NOG","NOP10","NOTCH1","NOTCH2","NPM1","NPR2","NSD1","NSD2","NSDHL","NSUN2","NTRK1","NXN","ODC1","ORC1","OTUD5","PARN","PAX9","PDE4D","PEPD","PERP","PEX1","PEX2","PEX6","PEX7","PGAP2","PGAP3","PHYH","PI4KA","PIEZO1","PIGA","PIGB","PIGF","PIGL","PIGN","PIGO","PIGP","PIGQ","PIGV","PIGW","PIGY","PITX1","PKP1","PLAG1","PLAGL1","PLCD1","PLEC","PLOD3","PNKP","PNPLA1","POC1A","POFUT1","POGLUT1","POLR3A","POMP","POP1","PORCN","PPM1D","PPP1CB","PPP2R5D","PQBP1","PRKACA","PRKACB","PRKAR1A","PRKD1","PRR12","PSENEN","PTDSS1","PTEN","RAB3GAP1","RAB3GAP2","RAB7A","RAF1","RBBP8","RBCK1","RBPJ","RECQL","RECQL4","RERE","RETREG1","RFC2","RIPK4","RLIM","RNF113A","RNF13","RNU12","RNU4ATAC","ROR2","RPA1","RPL21","RPS6KA3","RSPO1","RSPO4","RTEL1","RTL1","RUNX2","SASH1","SATB2","SCN1B","SCN2A","SCN9A","SCO2","SDR9C7","SET","SETBP1","SETD2","SF3B1","SHANK3","SHOC2","SHOX","SIAH1","SIK1","SIN3A","SIN3B","SLC24A4","SLC25A22","SLC25A24","SLC32A1","SLC35D1","SLC39A4","SLCO2A1","SLURP1","SMARCA2","SMARCA4","SMARCAD1","SMARCB1","SMARCC2","SMARCD1","SMARCD2","SMARCE1","SOST","SOX11","SOX18","SOX4","SOX9","SPEN","SREBF1","SRY","ST14","STAMBP","STAT3","STIM1","STING1","STK11","STX1A","STXBP1","SULT2B1","SUZ12","TAF1","TARS1","TAT","TBC1D24","TBL2","TBX3","TBX4","TCF4","TCTN3","TELO2","TERC","TERT","TET2","TFAP2A","TGM1","TGM5","TINF2","TMEM222","TMEM270","TNFRSF1B","TP53","TP63","TRAF3IP2","TRAF6","TREX1","TRIM8","TRPS1","TRPV3","TRRAP","TSC1","TSC2","TSPAN7","TTC7A","TWIST1","TWIST2","TYMS","UBE2A","UBR1","UFC1","UMPS","UROD","USB1","VAC14","VEGFC","VPS35L","VPS37D","WASHC5","WDR19","WDR35","WDR73","WLS","WNK1","WNT10A","WNT5A","WNT7A","WRAP53","ZBTB20","ZIC3","ZMPSTE24","ZMYM2","ZNF141","ZNF462","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CONCAVE_NAIL":{"collection":"C5:HPO","systematicName":"M35345","pmid":"","exactSource":"HP:0001598","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001598","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONCAVE_NAIL","geneSymbols":["AARS1","CARS1","EDA","ERCC2","ERCC3","GTF2E2","GTF2H5","HOXC13","HRAS","KRT1","LMX1B","MPLKIP","MSX1","PLCD1","RLIM","RNF113A","TARS1","TRPS1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_LARYNX":{"collection":"C5:HPO","systematicName":"M35346","pmid":"","exactSource":"HP:0001600","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001600","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_LARYNX","geneSymbols":["ADARB1","AFF4","AHDC1","AMER1","ANG","ANO3","ANXA11","APC","ARSL","ARVCF","ASAH1","ASXL3","ATP6V1E1","ATXN2","BRF1","BTD","C2CD3","CACNA1C","CAPN15","CASR","CAT","CCNF","CDKN2A","CENPE","CFAP410","CHCHD10","CHD7","CHEK2","CHMP2B","CILK1","COL12A1","COMT","CREBBP","CTSK","DAO","DCTN1","DDRGK1","DDX3X","DHCR7","DLK1","DTYMK","DYNC2H1","DYNC2I1","DYNC2I2","DYNC2LI1","EDN1","EFL1","EIF4A3","EP300","EPHA4","EPHB4","ERBB4","EXTL3","FANCB","FBXW7","FERMT1","FGF10","FGFR2","FGFR3","FIG4","FLNA","FLNB","FOXE1","FRAS1","FREM2","FUS","GABRG2","GALC","GIPC1","GLE1","GLI3","GLT8D1","GMNN","GP1BB","GRIN2A","GRIP1","H3-3A","H3-3B","HAAO","HDAC4","HIRA","HNRNPA1","HNRNPR","HOXD13","HS3ST6","HSPG2","HYLS1","IDH1","IFT80","INTU","JMJD1C","KANSL1","KAT6A","KAT6B","KCNMA1","KIF22","KIF7","KRAS","KRT14","KRT5","LAMA3","LAMB3","LAMC2","LBR","LMNA","LONP1","LRP12","LRP4","LTBP3","LTBP4","MAP3K7","MATR3","MDM2","MEG3","MEIS2","MGP","MID1","MKS1","MLH1","MSH2","MSH6","MT-CYB","MYMK","MYMX","NEFH","NEK1","NFIX","NIN","NLRP1","NOTCH2NLC","NRCAM","OPTN","ORC6","PCNT","PFN1","PHIP","PKDCC","PLG","PLP1","POLR3A","PON1","PON2","PON3","POR","PORCN","PPARGC1A","PPM1D","PRMT7","PRPH","PRRX1","PSAP","PTH1R","PUF60","RAF1","RAI1","RALGAPA1","RFX7","RILPL1","ROBO1","RPL10","RREB1","RSPO1","RSPO2","RTL1","SATB2","SCARF2","SCN4A","SEC24C","SEMA3E","SERPING1","SETBP1","SF3B4","SIAH1","SLC26A2","SMAD2","SMAD4","SNIP1","SOD1","SOX4","SOX9","SPTBN1","SQSTM1","SRPX2","SYT1","TAF1","TAF15","TARDBP","TBK1","TBX1","TBX3","TCTN3","TONSL","TP53","TREM2","TSPYL1","UBE3B","UBQLN2","UFC1","UFD1","UNC13A","VAPB","VCP","VPS13B","WDR35","WNT3","WRN","XPNPEP2","ZBTB7A","ZIC3","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LARYNGOMALACIA":{"collection":"C5:HPO","systematicName":"M35347","pmid":"","exactSource":"HP:0001601","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001601","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LARYNGOMALACIA","geneSymbols":["ADARB1","AFF4","AHDC1","APC","ARVCF","ASXL3","ATP6V1E1","BRF1","CACNA1C","CHD7","COL12A1","COMT","CREBBP","CTSK","DLK1","DTYMK","EFL1","EP300","FGFR2","GALC","GMNN","GP1BB","H3-3A","H3-3B","HAAO","HDAC4","HIRA","HNRNPR","HOXD13","HSPG2","HYLS1","IDH1","JMJD1C","KANSL1","KAT6A","KAT6B","KCNMA1","KIF7","KRT14","KRT5","LMNA","LRP4","LTBP4","MEG3","MEIS2","NFIX","NRCAM","ORC6","PCNT","PKDCC","POLR3A","POR","PPM1D","PRMT7","PSAP","RAF1","RALGAPA1","RFX7","RPL10","RREB1","RTL1","SATB2","SCARF2","SEC24C","SEMA3E","SETBP1","SIAH1","SMAD2","SNIP1","SOX4","SOX9","SYT1","TBX1","TBX3","TCTN3","UBE3B","UFC1","UFD1","VPS13B","WRN","ZBTB7A","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LARYNGEAL_STENOSIS":{"collection":"C5:HPO","systematicName":"M35348","pmid":"","exactSource":"HP:0001602","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001602","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LARYNGEAL_STENOSIS","geneSymbols":["DDRGK1","EXTL3","FERMT1","FLNB","FRAS1","FREM2","GRIP1","KIF22","LAMA3","LAMB3","LAMC2","MYMK","MYMX","SLC26A2","SMAD4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_VOCAL_CORD_PARESIS":{"collection":"C5:HPO","systematicName":"M35349","pmid":"","exactSource":"HP:0001604","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001604","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VOCAL_CORD_PARESIS","geneSymbols":["DST","GDAP1","GIPC1","HAAO","JAG1","LONP1","LRP12","MATR3","MFN2","NOTCH2NLC","PRX","RILPL1","SH3TC2","SLC5A7","TRPV4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_VOCAL_CORD_PARALYSIS":{"collection":"C5:HPO","systematicName":"M35350","pmid":"","exactSource":"HP:0001605","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001605","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VOCAL_CORD_PARALYSIS","geneSymbols":["ADCY6","ATXN3","CAMK2B","DCTN1","DKK1","DLST","DNMT3A","DST","ELN","EMD","EPAS1","FH","FHL1","GDAP1","GIPC1","HAAO","JAG1","KIF1B","LMNA","LONP1","LRP12","MATR3","MAX","MDH2","MFN2","MLXIPL","MYCN","MYH14","NF1","NOTCH2NLC","PMP22","POLA1","PRX","RET","RILPL1","SBF2","SDHA","SDHAF2","SDHB","SDHC","SDHD","SETBP1","SH3TC2","SLC25A11","SLC52A3","SLC5A7","SYNE1","SYNE2","TMEM127","TMEM43","TNNC2","TRAPPC12","TRIM2","TRPV4","VHL","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SUBGLOTTIC_STENOSIS":{"collection":"C5:HPO","systematicName":"M35351","pmid":"","exactSource":"HP:0001607","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001607","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUBGLOTTIC_STENOSIS","geneSymbols":["AFF4","CENPE","EFL1","FLNA","FRAS1","FREM2","GRIP1","LTBP3","MAP3K7","NIN","ROBO1","SF3B4","SMAD2","SNIP1","TBX3","TONSL"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_VOICE":{"collection":"C5:HPO","systematicName":"M35352","pmid":"","exactSource":"HP:0001608","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001608","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_VOICE","geneSymbols":["AARS1","ABAT","ACAN","ACTA1","ACTB","ADAR","ADCY6","ADGRG1","ADH1C","AFF2","AGA","AGRN","AIP","ALDH18A1","ALDH4A1","ALPL","ALS2","AMER1","ANOS1","AOPEP","AR","ARHGAP29","ARHGEF38","ARID1B","ARVCF","ASAH1","ASPA","ATG7","ATP1A3","ATP5F1A","ATP5MC3","ATP6AP2","ATP6V0A2","ATRX","ATXN2","ATXN3","ATXN8OS","B3GALNT2","B4GALNT1","BAG3","BAZ1B","BCL7B","BIN1","BMP4","BRAF","BUD23","C1R","CADM3","CAMK2B","CAMKMT","CAMTA1","CAPN15","CARS1","CCDC141","CDC73","CDH1","CEP104","CHAT","CHD7","CHRNA1","CHRND","CHRNE","CIZ1","CLIP2","CNOT2","COBLL1","COL13A1","COL6A3","COLQ","COMT","COQ2","COQ6","COQ9","CRLF1","CRPPA","CRTAP","CRYAB","CTNND2","CYP27A1","DCC","DCTN1","DDRGK1","DEAF1","DGCR2","DGCR6","DGCR8","DGUOK","DKK1","DLEC1","DLG1","DLK1","DLST","DLX4","DNAJB2","DNAJC30","DNAJC6","DNMT3A","DST","DUOX2","DUSP6","DYNC1I2","ECM1","EDA","EED","EIF2AK2","EIF4A3","EIF4H","ELN","EMD","EPAS1","ERCC2","ERCC3","ESS2","EXOSC9","EZH2","FBN1","FEZF1","FGF17","FGF8","FGFR1","FH","FHL1","FIG4","FKBP6","FKRP","FKTN","FLII","FLNA","FLRT3","FOXP1","FOXP2","FRRS1L","FTL","FTO","GABRG2","GALT","GARS1","GBA1","GDAP1","GFAP","GFPT1","GGPS1","GIPC1","GLUD2","GMPPA","GMPPB","GNAI3","GNAL","GNAS","GNE","GNPTAB","GNRH1","GNRHR","GP1BB","GPC3","GPC4","GPR101","GRHL3","GRIN2A","GTF2E2","GTF2H5","GTF2I","GTF2IRD1","GTF2IRD2","HAAO","HACD1","HERC2","HESX1","HIRA","HK1","HMBS","HRAS","HS6ST1","HSPG2","HTRA1","HTT","IDS","IFIH1","IGHMBP2","IL17RD","IL1RAPL1","INPP5K","IQSEC2","IRF6","ITGA7","JAG1","JMJD1C","KANSL1","KCNK9","KCTD17","KDM6A","KIF1B","KISS1","KISS1R","KMT2B","KMT2D","KRT14","KRT16","KRT17","KRT5","KRT6A","KRT6B","LAMA2","LAMA3","LAMB2","LAMB3","LAMC2","LARGE1","LEMD3","LIFR","LIMK1","LMNA","LMNB1","LONP1","LRP12","LSM11","LTBP3","LTBP4","LYRM4","LZTR1","MAGEL2","MAP3K20","MAPK1","MAPT","MATR3","MAX","MDH2","MECP2","MED12","MEG3","MEGF10","METTL27","MFN2","MGME1","MGP","MID1","MKRN3","MLXIPL","MPLKIP","MSX1","MT-TT","MUSK","MYCN","MYH14","MYH3","MYL2","MYMX","MYO9A","MYOT","MYPN","NALCN","NCF1","NDN","NDNF","NDUFS8","NECTIN1","NEFH","NEU1","NF1","NF2","NFE2L2","NHLH2","NIPBL","NLRP1","NLRP3","NONO","NOTCH2","NOTCH2NLC","NOTCH3","NPAP1","NR4A2","NSD1","NSMF","NUS1","OCA2","OCRL","OPA1","P4HB","PABPN1","PANK2","PAX8","PCNT","PDGFRA","PEX19","PHF8","PI4KA","PIGN","PLCB4","PLEC","PLIN4","PLXND1","PMP22","PNPO","PODXL","POLA1","POLG","POMGNT1","POMT1","POMT2","POU1F1","PPM1B","PPP1R21","PPP3CA","PQBP1","PREPL","PRKRA","PROK2","PROKR2","PRPH","PRX","PTPN11","PWAR1","PWRN1","PYROXD1","RAF1","RAI1","RAPSN","RARS1","RET","REV3L","RFC2","RIC1","RILPL1","RNASEH1","RNASEH2A","RNASEH2B","RNASEH2C","RNF113A","RNF6","RNU7-1","RREB1","RRM2B","RTL1","RYR1","SAMHD1","SBF2","SCN4A","SDHA","SDHAF2","SDHB","SDHC","SDHD","SEC24C","SEC24D","SEC31A","SELENON","SEMA3A","SEMA5A","SERPING1","SET","SETBP1","SH2B1","SH3BP2","SH3TC2","SHOC2","SHQ1","SIL1","SIM1","SLC18A2","SLC18A3","SLC19A2","SLC25A1","SLC25A11","SLC26A2","SLC2A3","SLC3A1","SLC52A3","SLC5A7","SMAD4","SMARCB1","SMS","SNAP25","SNCAIP","SNORD115-1","SNORD116-1","SNRPB","SNRPN","SOD1","SOX10","SPART","SPEG","SPG7","SPRY4","SPTBN1","SRCAP","SRD5A2","SRPX2","STAG2","STX16","STX1A","SUZ12","SYNE1","SYNE2","SYNJ1","SYT2","TAC3","TACR3","TARS1","TBC1D2B","TBL2","TBP","TBX1","TFAP2A","TGFBR2","TGM6","THAP1","THRA","TK2","TLK2","TMEM127","TMEM270","TMEM43","TNNC2","TONSL","TOR1A","TP63","TPK1","TPM2","TPM3","TRAPPC12","TREX1","TRH","TRHR","TRIM2","TRIM37","TRIP4","TRPV4","TSHB","TSHR","TSPYL1","TTC19","TTC26","TTN","TUBB4A","TUBB6","TWNK","UBA1","UBB","UFD1","UNC45B","UPF3B","VAMP1","VARS1","VHL","VPS11","VPS13A","VPS13B","VPS37D","WDR11","WRN","WWOX","ZBTB18","ZDHHC9","ZFYVE26","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HOARSE_VOICE":{"collection":"C5:HPO","systematicName":"M35353","pmid":"","exactSource":"HP:0001609","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001609","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HOARSE_VOICE","geneSymbols":["ACAN","ACTA1","ADAR","AFF2","AGA","AIP","ARID1B","ASAH1","BAZ1B","BCL7B","BUD23","C1R","CDC73","CLIP2","DDRGK1","DEAF1","DLK1","DNAJC30","DUOX2","ECM1","EDA","EED","EIF4H","ELN","EZH2","FBN1","FKBP6","FLII","FLNA","GDAP1","GNE","GNPTAB","GPC3","GPC4","GPR101","GTF2I","GTF2IRD1","GTF2IRD2","HACD1","HRAS","IDS","IFIH1","IQSEC2","ITGA7","KRT14","KRT16","KRT17","KRT5","KRT6A","KRT6B","LAMA3","LAMB3","LAMC2","LEMD3","LIFR","LIMK1","LSM11","LTBP3","LTBP4","MAP3K20","MAPK1","MATR3","MEG3","METTL27","MFN2","MID1","MLXIPL","MYH14","MYL2","NCF1","NFE2L2","NLRP1","NSD1","PAX8","PIGN","POU1F1","PPP3CA","RAI1","RFC2","RNASEH2A","RNASEH2B","RNASEH2C","RNU7-1","RTL1","SAMHD1","SDHAF2","SDHC","SDHD","SELENON","SERPING1","SHOC2","SLC19A2","SLC26A2","SMS","SPART","SPTBN1","STX1A","SUZ12","TBC1D2B","TBL2","THRA","TLK2","TMEM270","TPM2","TPM3","TREX1","TRH","TRHR","TRPV4","TSHB","VPS37D"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPERNASAL_SPEECH":{"collection":"C5:HPO","systematicName":"M35354","pmid":"","exactSource":"HP:0001611","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001611","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERNASAL_SPEECH","geneSymbols":["AGRN","AMER1","ARHGAP29","ARHGEF38","ARVCF","ATG7","ATP6V0A2","BAG3","BMP4","CADM3","CAMKMT","CAMTA1","CDH1","CEP104","CHAT","CNOT2","COBLL1","COL13A1","COMT","CRLF1","DGCR2","DGCR6","DGCR8","DLG1","DLX4","DYNC1I2","ESS2","FOXP2","GMPPA","GP1BB","GRHL3","GRIN2A","HERC2","HIRA","IL1RAPL1","IQSEC2","IRF6","JMJD1C","KANSL1","LIFR","LRP12","MAGEL2","MATR3","MED12","MEGF10","MGME1","MGP","MKRN3","MSX1","MUSK","MYH3","MYMX","MYO9A","MYOT","MYPN","NALCN","NECTIN1","NONO","NOTCH3","NPAP1","PABPN1","PCNT","PDGFRA","PHF8","PLEC","POLG","PPM1B","PQBP1","PREPL","PWAR1","PWRN1","PYROXD1","RIC1","RILPL1","RREB1","SCN4A","SEC24C","SELENON","SET","SHOC2","SLC18A2","SLC18A3","SLC25A1","SLC3A1","SLC5A7","SMS","SNAP25","SNORD115-1","SNORD116-1","SNRPB","SNRPN","SPG7","SRCAP","SRPX2","SYT2","TBX1","TFAP2A","TP63","TPM2","TPM3","TUBB6","TWNK","UBB","UFD1","UNC45B","UPF3B","VAMP1","ZBTB18","ZDHHC9"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_WEAK_CRY":{"collection":"C5:HPO","systematicName":"M35355","pmid":"","exactSource":"HP:0001612","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001612","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WEAK_CRY","geneSymbols":["AGRN","ASAH1","ASPA","ATRX","CHAT","CHRNA1","CHRND","CHRNE","COL13A1","COLQ","COQ9","CRYAB","EXOSC9","FKTN","FTO","GFPT1","GGPS1","HACD1","IGHMBP2","KDM6A","KMT2D","LAMA2","LAMA3","LAMB2","LYRM4","MAGEL2","MYO9A","NDUFS8","NIPBL","OPA1","PEX19","PPP1R21","RAPSN","RYR1","SCN4A","SIM1","SLC18A3","SLC25A1","SLC5A7","SNAP25","SNRPN","SYT2","TPM3","TRIP4","TTC26","UBA1","VAMP1","VARS1","VPS13B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HOARSE_CRY":{"collection":"C5:HPO","systematicName":"M35356","pmid":"","exactSource":"HP:0001615","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001615","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HOARSE_CRY","geneSymbols":["ASAH1","DLK1","DUOX2","EZH2","KRT14","KRT5","LAMA3","LAMB3","LAMC2","LTBP4","MEG3","PAX8","PIGN","RTL1","TSHB"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DYSPHONIA":{"collection":"C5:HPO","systematicName":"M35357","pmid":"","exactSource":"HP:0001618","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001618","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DYSPHONIA","geneSymbols":["AARS1","ACTB","ADGRG1","AGRN","ALDH18A1","ALS2","AR","ASAH1","ATP5MC3","B4GALNT1","BAZ1B","BCL7B","BIN1","BUD23","CAPN15","CARS1","CHAT","CIZ1","CLIP2","COL13A1","COL6A3","COQ2","CRYAB","CYP27A1","DCTN1","DGUOK","DLST","DNAJB2","DNAJC30","DNMT3A","EDA","EIF4H","ELN","EPAS1","ERCC2","ERCC3","FH","FIG4","FKBP6","FTL","GFAP","GNAL","GNAS","GTF2E2","GTF2H5","GTF2I","GTF2IRD1","GTF2IRD2","HK1","HMBS","HSPG2","HTRA1","INPP5K","KCNK9","KCTD17","KIF1B","KMT2B","LIMK1","LMNB1","LRP12","MAX","MDH2","METTL27","MFN2","MGME1","MLXIPL","MPLKIP","MYO9A","NCF1","NEFH","NEU1","NF1","NONO","NOTCH3","NUS1","PANK2","PI4KA","PLIN4","POLG","PRKRA","PRPH","RARS1","RET","RFC2","RNASEH1","RNF113A","RRM2B","RYR1","SBF2","SDHA","SDHAF2","SDHB","SDHC","SDHD","SEC31A","SIL1","SLC18A3","SLC25A1","SLC25A11","SLC5A7","SNAP25","SOD1","SPEG","SRPX2","STX16","STX1A","SYT2","TARS1","TBL2","TGM6","THAP1","TMEM127","TMEM270","TPK1","TTC19","TTN","TUBB4A","TWNK","VAMP1","VHL","VPS11","VPS13A","VPS37D","ZFYVE26"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HIGH_PITCHED_VOICE":{"collection":"C5:HPO","systematicName":"M35358","pmid":"","exactSource":"HP:0001620","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001620","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HIGH_PITCHED_VOICE","geneSymbols":["ADAMTSL2","AR","ARID1B","BLM","BSCL2","CHRNB1","CTNND2","ERCC4","FAM111A","FMR1","GHR","GRB10","HSPG2","IGF1R","ITPA","LMNA","MDM2","MED12","MFN2","MORC2","MTX2","MYH7","NBAS","ORC4","P4HB","PCNT","POC1A","POLD1","PPP1R15B","RBBP8","RIN2","SEC24D","SELENON","SEMA5A","SERPINH1","SMARCAL1","SRCAP","STAT5B","SYT2","TRIM37","TRMT10A","TTN","WRN","XRCC4","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_WEAK_VOICE":{"collection":"C5:HPO","systematicName":"M35359","pmid":"","exactSource":"HP:0001621","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001621","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WEAK_VOICE","geneSymbols":["ADH1C","AOPEP","ATP6AP2","ATXN2","ATXN8OS","COQ6","DCTN1","DNAJC6","FHL1","FTL","GARS1","GBA1","GLUD2","HSPG2","LZTR1","MAPT","MATR3","MT-TT","NF2","NR4A2","PODXL","POLG","SLC52A3","SMARCB1","SNCAIP","SYNJ1","SYT2","TBP","TK2","TONSL","TRIM37"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PREMATURE_BIRTH":{"collection":"C5:HPO","systematicName":"M35360","pmid":"","exactSource":"HP:0001622","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001622","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PREMATURE_BIRTH","geneSymbols":["ABCA12","ABCA3","ABCB11","ABCB4","ACTA1","ADAMTS2","AIMP1","ALB","ALG12","ALG8","ARHGAP31","ASCC1","ASNS","ATP8B1","B4GALT1","BCR","BRAF","BRD4","BSND","CCDC47","CDON","CLCN7","CLCNKA","CLCNKB","CNOT1","CNTN1","COL11A1","COL1A1","COL1A2","COL3A1","COL5A1","COL5A2","COPB2","CRB2","CRKL","CYP11A1","DCLRE1B","DHCR7","DHPS","DISP1","DLK1","DLL1","DLL4","DMPK","DOCK6","EOGT","ESCO2","FBN1","FCSK","FDXR","FGF8","FGFR1","FIG4","FLI1","FLNB","FLVCR2","FOXH1","FZD4","GALK1","GAS1","GATB","GATC","GBA1","GLB1","GLI2","GON7","HBB","HDAC8","HOXD13","HRAS","HYLS1","IGHMBP2","KCNJ1","KIF7","KLHL40","KLHL41","KRAS","LAGE3","LMNA","LMOD3","LRP5","LTBP3","MAGED2","MAP2K1","MAP2K2","MAPK1","MED12","MEG3","MTM1","MUSK","MYH7","NDP","NDUFB11","NDUFB3","NEB","NIPBL","NLRP3","NODAL","NOTCH1","NR1H4","NUP107","NUP133","OSGEP","PAX2","PBX1","PCDH12","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PNPO","PTCH1","PTH1R","QRSL1","RAD21","RALGAPA1","RBPJ","RNU4ATAC","RPL10","RPS19","RTL1","SARS2","SATB1","SERPINE1","SF3B4","SFTPB","SFTPC","SHH","SIX3","SKIC2","SLC12A1","SLC16A2","SLC17A5","SLC26A3","SLC27A4","SMARCAL1","SMC1A","SMC3","SMPD4","STAT2","STRADA","SUFU","TDGF1","TGIF1","THOC2","TMEM70","TP53RK","TPM3","TPRKB","TRIP4","TSHR","VARS1","WARS2","WDR4","WDR62","WDR73","YARS1","YRDC","ZIC2","ZMPSTE24","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BREECH_PRESENTATION":{"collection":"C5:HPO","systematicName":"M35361","pmid":"","exactSource":"HP:0001623","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001623","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BREECH_PRESENTATION","geneSymbols":["ACTA1","ACY1","ASH1L","ASXL3","CFL2","CHST3","COL1A1","COL1A2","COL25A1","CRTAP","DHCR7","DST","DTYMK","ERGIC1","FGFR3","HACD1","HERC2","HNRNPK","IARS2","KBTBD13","KDM3B","KLHL40","KLHL41","LMOD3","LTBP4","MAGEL2","MKRN3","MKS1","MYH3","MYPN","NEB","NPAP1","OPA1","ORC1","PEX1","PIGA","POR","PRKAG2","PTPN23","PWAR1","PWRN1","RMRP","RNU4ATAC","RYR1","SCN4A","SCYL2","SHPK","SLC26A2","SNORD115-1","SNORD116-1","SON","TPM2","TPM3","UQCC2","VARS1","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_HEART_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M47046","pmid":"","exactSource":"HP:0001627","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001627","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_HEART_MORPHOLOGY","geneSymbols":["AARS1","AARS2","ABCA1","ABCC6","ABCC8","ABCC9","ABCD4","ABCG5","ABCG8","ABHD5","ABL1","ACAD8","ACAD9","ACADM","ACADS","ACADVL","ACSL4","ACTA1","ACTA2","ACTB","ACTC1","ACTG2","ACTN2","ACVR2B","ADA2","ADAM17","ADAMTS10","ADAMTS19","ADAMTS3","ADAR","ADAT3","ADCY5","ADK","ADNP","ADORA2A","AEBP1","AFF4","AGGF1","AGK","AGL","AGO2","AGPAT2","AGR2","AHCY","AHI1","AIP","AKT3","ALDH18A1","ALDH1A2","ALG1","ALG12","ALG3","ALG5","ALG8","ALG9","ALKBH8","ALMS1","ALPK3","ALX1","ALX3","AMER1","AMMECR1","ANAPC7","ANK1","ANKRD1","ANKRD11","ANKS6","ANO5","APC2","APOB","ARCN1","ARF1","ARFGEF2","ARHGAP31","ARID1A","ARID1B","ARID2","ARL13B","ARL2BP","ARL3","ARL6","ARMC9","ARSB","ARSK","ARSL","ARVCF","ARX","ASCC1","ASXL1","ASXL2","ATAD3A","ATIC","ATN1","ATP13A3","ATP1A2","ATP1A3","ATP2B1","ATP5F1A","ATP5F1D","ATP5F1E","ATP5MK","ATP6AP2","ATP6V0A2","ATP6V1A","ATP6V1B2","ATP6V1E1","ATP9A","ATPAF1","ATPAF2","ATRX","AUTS2","B2M","B3GALT6","B3GAT3","B3GLCT","B9D1","B9D2","BAG3","BAG5","BANF1","BAP1","BAZ1B","BBS1","BBS2","BCAS3","BCL7B","BCOR","BCR","BCS1L","BGN","BICC1","BICRA","BIN1","BLTP1","BMP2","BMP6","BMPR1A","BMPR2","BOLA3","BRAF","BRCA1","BRCA2","BRCC3","BRD4","BRF1","BRIP1","BSCL2","BTK","BUB1","BUB1B","BUB3","BUD23","C1QBP","C2CD3","C4A","CACNA1A","CACNA1C","CACNA1D","CACNA1S","CALCRL","CALM2","CALM3","CAMK2A","CANT1","CAP2","CAPN15","CARS1","CASK","CASQ2","CASZ1","CAV1","CAV3","CAVIN1","CBL","CBS","CBY1","CC2D2A","CCBE1","CCDC103","CCDC174","CCDC22","CCDC28B","CCDC32","CCDC39","CCDC40","CCDC47","CCDC65","CCND1","CCND2","CCNO","CCNQ","CCR1","CD96","CDC42","CDC42BPB","CDC45","CDH2","CDH23","CDK10","CDK13","CDK8","CDKL5","CDKN1C","CDON","CENPE","CEP104","CEP120","CEP290","CEP41","CEP57","CFAP221","CFAP298","CFAP300","CFAP45","CFAP52","CFAP53","CFAP74","CFC1","CFTR","CHD3","CHD4","CHD7","CHKB","CHMP1A","CHRM3","CHRNA1","CHRND","CHRNG","CHST14","CHST3","CHUK","CIROP","CISD2","CITED2","CKAP2L","CLCN3","CLCN7","CLCNKB","CLEC7A","CLIC2","CLIP2","CLN3","CLPB","COA5","COA6","COA8","COG1","COG6","COG7","COL11A1","COL18A1","COL1A1","COL1A2","COL25A1","COL2A1","COL3A1","COL5A1","COL5A2","COL7A1","COLQ","COMT","COQ2","COQ4","COQ7","COQ9","COX10","COX14","COX15","COX16","COX5A","COX6B1","COX7B","CPE","CPLANE1","CPLX1","CPT1A","CPT2","CRB2","CREBBP","CRELD1","CRKL","CRLS1","CRYAB","CSGALNACT1","CSNK2A1","CSPP1","CSRP3","CTBP1","CTCF","CTLA4","CTNNA3","CTU2","CUL3","CUX1","CWC27","CXCR2","CXCR4","CYP27A1","D2HGDH","DACT1","DAXX","DCAF8","DCHS1","DCPS","DDX11","DDX3X","DDX59","DDX6","DEF6","DES","DGCR2","DGCR6","DGCR8","DHCR7","DISP1","DLD","DLK1","DLL1","DLL4","DMD","DMPK","DMXL2","DNA2","DNAAF1","DNAAF11","DNAAF2","DNAAF3","DNAAF4","DNAAF5","DNAAF6","DNAH1","DNAH11","DNAH5","DNAH9","DNAI1","DNAI2","DNAJB11","DNAJB13","DNAJB4","DNAJC19","DNAJC21","DNAJC30","DNAL1","DNAL4","DNASE1","DNASE1L3","DNMT3A","DOCK6","DOHH","DOLK","DPF2","DPH1","DPH2","DPH5","DPM3","DPYSL5","DRC1","DSC2","DSE","DSG1","DSG2","DSP","DST","DTNA","DVL3","DYNC2I1","DYNC2LI1","DYRK1A","DYSF","DZIP1","EBP","ECE1","ECHS1","EDNRA","EFEMP2","EFL1","EFTUD2","EGFR","EHMT1","EIF2AK3","EIF2AK4","EIF4H","ELAC2","ELN","EMD","ENPP1","EOGT","EP300","EPB42","EPCAM","EPG5","EPHB4","ERAP1","ERBB3","ERCC1","ERCC2","ERCC3","ERCC4","ERCC6","ERCC8","ERGIC1","ERMARD","ESCO2","ESPN","ESS2","EVC","EVC2","EXOC2","EXT2","EXTL3","EYA4","FADD","FAH","FAM149B1","FAN1","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FAS","FASTKD2","FAT4","FBLN5","FBN1","FBN2","FBXL4","FBXW11","FCGR2A","FCGR2B","FDFT1","FGF13","FGF8","FGFR1","FGFR2","FGFR3","FGFRL1","FH","FHL1","FHL2","FHOD3","FIBP","FIG4","FKBP6","FKRP","FKTN","FLAD1","FLCN","FLI1","FLNA","FLNB","FLNC","FLT4","FMN2","FMR1","FNIP1","FOCAD","FOS","FOXC1","FOXC2","FOXE3","FOXF1","FOXH1","FOXJ1","FOXP1","FOXP2","FOXRED1","FRA10AC1","FRAS1","FREM1","FRMD5","FTCD","FTO","FUCA1","FUT8","FXN","FZR1","G6PC3","GAA","GABRD","GALNS","GANAB","GAS1","GAS2L2","GAS8","GATA1","GATA3","GATA4","GATA5","GATA6","GATAD1","GATB","GATC","GBA1","GBE1","GCK","GDF1","GDF3","GDF6","GET3","GJA1","GJA5","GJA8","GLA","GLB1","GLI1","GLI2","GLI3","GLRX5","GMPPB","GNAI2","GNAO1","GNB2","GNB5","GNE","GNPAT","GNPTAB","GNS","GP1BB","GPC3","GPC4","GPC6","GPR101","GPX4","GRB10","GRIN1","GRM7","GSN","GTF2E2","GTF2H5","GTF2I","GTF2IRD1","GTF2IRD2","GTPBP3","GUSB","GYG1","GYS1","H3-3A","H3-3B","H4C3","H4C9","HAAO","HACD1","HADH","HADHA","HADHB","HAMP","HAND2","HBA1","HBA2","HBB","HCCS","HCN4","HDAC4","HDAC8","HEATR3","HES7","HEXB","HEY2","HFE","HGD","HGSNAT","HIBCH","HIRA","HJV","HLA-B","HLA-DPA1","HLA-DPB1","HLA-DRB1","HMGCL","HNRNPA1","HNRNPA2B1","HNRNPH2","HNRNPK","HNRNPR","HNRNPU","HOXA13","HOXD13","HPS1","HRAS","HSD11B2","HSD17B10","HSPA9","HSPG2","HYDIN","HYLS1","HYMAI","IDH1","IDH2","IDS","IDUA","IFIH1","IFNG","IFNGR1","IFT122","IFT140","IFT172","IFT27","IFT74","IFT81","IGBP1","IGF1R","IGF2","IKZF1","IL10","IL12A","IL12A-AS1","IL12B","IL17F","IL17RA","IL17RC","IL23R","IL6","INPP5E","INS","INSR","INTS1","INTU","INVS","IPO8","IRAK1","IRF4","IRF6","IRX5","ITGA7","ITK","ITPA","JAG1","JAG2","JAM3","JMJD1C","JPH2","JUP","KANSL1","KAT5","KAT6A","KAT6B","KAT8","KATNB1","KATNIP","KBTBD13","KCNA1","KCNAB2","KCNE5","KCNH1","KCNJ11","KCNJ2","KCNJ5","KCNJ8","KCNQ1","KCNQ1OT1","KCTD1","KDM1A","KDM3B","KDM5B","KDM6A","KDR","KIAA0586","KIAA0753","KIF11","KIF15","KIF20A","KIF3B","KIF7","KIFBP","KLF1","KLHL24","KLHL41","KLRC4","KMT2A","KMT2C","KMT2D","KRAS","KYNU","LACC1","LAMA2","LAMA3","LAMA4","LAMA5","LAMB2","LAMB3","LAMC2","LAMP2","LARP7","LARS2","LBR","LCK","LDB3","LDLR","LDLRAP1","LEMD2","LEMD3","LETM1","LIAS","LIMK1","LIMS2","LMBRD1","LMNA","LMNB1","LMOD1","LMOD2","LONP1","LOX","LRP12","LRP2","LRP5","LRPPRC","LRRC56","LSM11","LTBP1","LTBP2","LTBP3","LTBP4","LUZP1","LYST","LZTFL1","LZTR1","MACF1","MAD2L2","MAF","MAGEL2","MAP1B","MAP2K1","MAP2K2","MAP3K20","MAP3K7","MAPK1","MAPKAPK5","MASP1","MAT2A","MBTPS2","MC2R","MCIDAS","MCM10","MCTP2","MED11","MED12","MED13L","MED23","MED25","MEFV","MEG3","MEGF8","MEIS2","MEN1","MEOX1","METTL27","METTL5","MFAP5","MGAT2","MGME1","MGP","MIB1","MICOS13","MICU1","MID1","MIF","MIPEP","MIR17HG","MKKS","MKS1","MLH1","MLH3","MLX","MLXIPL","MLYCD","MMACHC","MMP1","MMP14","MMP2","MMP21","MMP23B","MMUT","MNS1","MOGS","MPDZ","MPL","MPLKIP","MRAP","MRAS","MRPL3","MRPL44","MRPS14","MRPS22","MSH2","MSH6","MSX1","MT-ATP6","MT-ATP8","MT-CO1","MT-CO2","MT-CO3","MT-CYB","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND5","MT-ND6","MT-TC","MT-TE","MT-TF","MT-TH","MT-TK","MT-TL1","MT-TN","MT-TQ","MT-TS1","MT-TS2","MT-TT","MT-TV","MT-TW","MTFMT","MTO1","MTTP","MTX2","MYBPC3","MYCN","MYH11","MYH3","MYH6","MYH7","MYH8","MYL2","MYL3","MYLK","MYLK2","MYMK","MYO18B","MYOCD","MYOT","MYOZ2","MYPN","MYRF","MYSM1","NAA10","NAA20","NADSYN1","NAE1","NAGA","NAGLU","NAXD","NBAS","NCAPG2","NCF1","NDE1","NDUFA1","NDUFA10","NDUFA11","NDUFA2","NDUFA6","NDUFAF1","NDUFAF2","NDUFAF3","NDUFAF4","NDUFAF5","NDUFAF8","NDUFB10","NDUFB11","NDUFB3","NDUFB7","NDUFB9","NDUFC2","NDUFS1","NDUFS2","NDUFS3","NDUFS4","NDUFS6","NDUFS7","NDUFS8","NDUFV1","NDUFV2","NEB","NECTIN1","NEDD4L","NEK1","NEK10","NEK8","NEK9","NELFA","NEU1","NEUROD2","NEXN","NF1","NFE2L2","NFIX","NFS1","NHLRC2","NIPA1","NIPA2","NIPBL","NKAP","NKX2-1","NKX2-5","NKX2-6","NME5","NME8","NNT","NOD2","NODAL","NONO","NOTCH1","NOTCH2","NOTCH3","NPHP3","NPPA","NPR3","NR2F2","NRAS","NSD1","NSD2","NSDHL","NSMCE2","NUBPL","NUP107","NUP155","NUP188","NXN","OCLN","ODAD1","ODAD2","ODAD3","ODAD4","OFD1","OGT","OPA1","OTUD5","OTUD6B","OTX2","P4HA2","PACS1","PACS2","PAH","PAK2","PALB2","PAM16","PARS2","PAX3","PBX1","PCCA","PCCB","PCGF2","PCNT","PCSK9","PDE11A","PDE6D","PDGFRA","PDHA1","PDPN","PDX1","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PEX7","PGAP1","PGAP2","PGM1","PHGDH","PHKA2","PHKG2","PHYH","PI4KA","PIBF1","PIEZO1","PIEZO2","PIGA","PIGF","PIGG","PIGL","PIGN","PIGO","PIGP","PIGQ","PIGS","PIGT","PIGV","PIK3CA","PIK3R2","PKD1","PKD1L1","PKD2","PKDCC","PKP2","PLAGL1","PLCH1","PLD1","PLEC","PLN","PLOD1","PLVAP","PLXND1","PMM2","PMS1","PMS2","PNKP","PNPLA2","POGZ","POLA1","POLG","POLG2","POLR1A","POLR3A","POMGNT1","POMK","POMT1","POMT2","POR","PORCN","PPA2","PPARG","PPCS","PPFIBP1","PPM1D","PPP1CB","PPP1R21","PPP2CA","PPP2R5D","PQBP1","PRDM13","PRDM16","PRDM5","PRG4","PRIM1","PRKACA","PRKACB","PRKAG2","PRKAR1A","PRKCZ","PRKD1","PRKG1","PRR12","PRRX1","PRTN3","PRUNE1","PSEN1","PSEN2","PSMB8","PSMC1","PSMD12","PTCH1","PTEN","PTF1A","PTPN11","PTPN14","PTPN22","PUF60","PURA","PYGL","PYGM","QRICH1","QRSL1","RAB23","RAB3GAP2","RAC1","RAD21","RAD51","RAD51C","RAF1","RAI1","RARB","RASA1","RASA2","RBCK1","RBM10","RBM20","RBM8A","RBPJ","RECQL4","RELN","RERE","RFC2","RFWD3","RFX7","RIGI","RIPK4","RIT1","RLIM","RMND1","RMRP","RNASEH1","RNASEH2A","RNASEH2B","RNASEH2C","RNF113A","RNF135","RNF220","RNU4ATAC","RNU7-1","ROBO1","ROBO4","ROR2","RPGR","RPGRIP1","RPGRIP1L","RPL10","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL3L","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS6KA3","RPS7","RRAGD","RRAS","RRAS2","RREB1","RRM2B","RSPH1","RSPH3","RSPH4A","RSPH9","RSPO2","RSPRY1","RTL1","RTTN","RYR1","RYR2","SAA1","SACS","SALL1","SALL4","SAMHD1","SARDH","SAT1","SATB1","SATB2","SBDS","SCARB2","SCN1B","SCN2A","SCN5A","SCO1","SCO2","SCUBE3","SCYL2","SDHA","SDHAF1","SDHB","SDHD","SEC24C","SEC31A","SELENON","SEMA3E","SEMA4A","SERPINE1","SETBP1","SETD1A","SETD2","SETD5","SF3B2","SF3B4","SFTPB","SGCA","SGCB","SGCD","SGCG","SGO1","SGSH","SH2B1","SH3PXD2B","SHANK3","SHH","SHMT2","SHOC2","SIAH1","SIK1","SIK3","SIN3A","SIX3","SIX6","SKI","SKIC2","SKIC3","SLC12A2","SLC12A3","SLC17A5","SLC19A2","SLC1A3","SLC22A5","SLC25A12","SLC25A20","SLC25A22","SLC25A24","SLC25A3","SLC25A36","SLC25A4","SLC29A3","SLC2A10","SLC30A10","SLC31A1","SLC32A1","SLC34A2","SLC35A2","SLC37A4","SLC38A3","SLC40A1","SLC4A1","SLC5A6","SLC6A6","SLC7A7","SLF2","SLX4","SMAD2","SMAD3","SMAD4","SMAD6","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SMC1A","SMC3","SMG8","SMG9","SMN1","SMPD1","SMPX","SNIP1","SNRPB","SNRPN","SNX10","SNX14","SON","SOS1","SOS2","SOX11","SOX2","SOX4","SOX6","SOX9","SP110","SPAG1","SPATA5","SPECC1L","SPEF2","SPEG","SPEN","SPOP","SPP1","SPRED1","SPRED2","SPTA1","SPTB","SPTBN1","SQSTM1","SRCAP","SREBF1","SRP54","SRY","STAG1","STAG2","STAMBP","STAR","STAT1","STAT2","STAT3","STAT4","STIL","STK36","STK4","STRA6","STRADA","STX1A","SUCLG1","SUFU","SUPT16H","SURF1","SVBP","SVIL","SYNE1","SYNE2","SYT1","SYT2","SZT2","TAB2","TAF1A","TAF2","TAFAZZIN","TALDO1","TANGO2","TAOK1","TAPT1","TARS1","TASP1","TBC1D24","TBCK","TBL2","TBX1","TBX2","TBX20","TBX22","TBX3","TBX4","TBX5","TCAP","TCIRG1","TCOF1","TCTN1","TCTN2","TCTN3","TDGF1","TERT","TET3","TFAP2B","TFR2","TGDS","TGFB1","TGFB2","TGFB3","TGFBR1","TGFBR2","TGIF1","THOC6","THPO","THSD1","THSD4","TIA1","TIAM1","TIMMDC1","TK2","TKFC","TKT","TLL1","TLR4","TMCO1","TMEM107","TMEM126A","TMEM126B","TMEM147","TMEM216","TMEM218","TMEM231","TMEM237","TMEM260","TMEM270","TMEM43","TMEM53","TMEM67","TMEM70","TMEM94","TMPO","TMTC3","TNFRSF11A","TNFRSF1A","TNFSF11","TNNC1","TNNI3","TNNI3K","TNNT1","TNNT2","TNXB","TOGARAM1","TOM1","TOP3A","TOPORS","TP63","TPI1","TPK1","TPM1","TPM2","TPM3","TPR","TRAF3IP2","TRAF7","TRAIP","TRAPPC11","TRDN","TREX1","TRIM37","TRIM8","TRIO","TRIP13","TRIP4","TRMT10C","TRMT5","TRNT1","TRRAP","TSC1","TSC2","TSFM","TSR2","TTC12","TTC26","TTC7A","TTC8","TTN","TTPA","TTR","TUBG1","TULP3","TWIST1","TWNK","TXNDC15","TXNL4A","TXNRD2","UBAC2","UBE2A","UBE2T","UBE3B","UBE3C","UBE4B","UBR1","UBR7","UCP2","UFC1","UFD1","UMPS","UPF3B","UQCRC2","UQCRFS1","USP18","USP9X","VAC14","VARS2","VCL","VCP","VEZF1","VHL","VIPAS39","VPS13A","VPS13B","VPS33A","VPS33B","VPS35L","VPS37D","VWF","WAC","WARS2","WASHC5","WBP11","WDPCP","WDR26","WDR35","WDR37","WFS1","WLS","WNT4","WT1","XK","XRCC2","XRCC4","XYLT1","XYLT2","YARS1","YARS2","YY1","YY1AP1","ZBTB7A","ZDHHC9","ZEB2","ZFP57","ZFPM2","ZIC2","ZIC3","ZMPSTE24","ZMYM2","ZMYND10","ZNF341","ZNF423","ZNF462","ZNF469","ZNF668","ZNF687","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MITRAL_VALVE_PROLAPSE":{"collection":"C5:HPO","systematicName":"M41240","pmid":"","exactSource":"HP:0001634","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001634","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MITRAL_VALVE_PROLAPSE","geneSymbols":["ABCC6","ADNP","AEBP1","AGR2","ALG5","ALG9","ANK1","ATP6V1E1","B3GALT6","B3GAT3","BAZ1B","BCL7B","BCOR","BGN","BICC1","BRAF","BRF1","BUD23","CBS","CHST14","CHST3","CLIC2","CLIP2","COL1A1","COL1A2","COL2A1","COL3A1","COL5A1","COL5A2","COX7B","CREBBP","DCHS1","DNAJB11","DNAJC30","DSE","DZIP1","EIF4H","ELN","ENPP1","EP300","EXTL3","FBN1","FBN2","FIBP","FKBP6","FLNA","FMN2","FMR1","GANAB","GTF2I","GTF2IRD1","GTF2IRD2","HCCS","HCN4","HEXB","HNRNPH2","HRAS","IFT140","IPO8","KRAS","LIMK1","LMNA","LTBP3","LZTR1","MAP3K7","MAPK1","MED12","METTL27","MFAP5","MLXIPL","MMP14","MMP2","MYH7","MYPN","NCF1","NDUFB11","NF1","NPR3","PCGF2","PKD1","PKD2","PLD1","PLOD1","POLG","PRDM5","PRG4","PTPN11","RAF1","RFC2","ROBO1","RPL5","RYR1","SACS","SELENON","SH3PXD2B","SKI","SLC29A3","SLC6A6","SMAD3","SMAD4","SPRED1","SPRED2","STX1A","TAB2","TBL2","TGFB2","TGFBR1","TGFBR2","TMEM270","TNXB","TPM2","TPM3","TTN","TWNK","VPS13B","VPS37D","VWF","XYLT1","XYLT2","ZNF469"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CONGESTIVE_HEART_FAILURE":{"collection":"C5:HPO","systematicName":"M35364","pmid":"","exactSource":"HP:0001635","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001635","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONGESTIVE_HEART_FAILURE","geneSymbols":["AARS2","ABCC6","ABCC9","ACAD9","ACTC1","ACTN2","ACVRL1","ADAMTSL2","ADCY5","AFF4","AGGF1","AGPAT2","ALDH18A1","ALMS1","ALPK3","AP1S3","ATP5F1A","ATP6V1A","ATXN7","BAG3","BAG5","BAZ1B","BCHE","BCL7B","BMP2","BMP6","BSCL2","BUD23","CACNA1S","CASR","CAV1","CAV3","CAVIN1","CCN2","CCR6","CDH23","CEP19","CITED2","CLIC2","CLIP2","CLPB","COG7","COL1A1","COL1A2","COX16","CP","CSRP3","DES","DLST","DMD","DNAJC19","DNAJC30","DNMT3A","DOHH","DOLK","DSG2","DSP","DTNA","EFEMP2","EIF4H","ELAC2","ELN","ENG","ENPP1","EPAS1","EPG5","EPHB4","EYA4","FBLN5","FBN1","FGD1","FGFR3","FH","FKBP6","FLNA","FLNC","FOS","FXN","GAA","GATA4","GATA6","GATAD1","GDF2","GLA","GLB1","GNA11","GNPTAB","GPR35","GTF2I","GTF2IRD1","GTF2IRD2","GTPBP3","HADHA","HADHB","HAMP","HBA1","HBA2","HBB","HFE","HJV","HLA-DRB1","HNRNPA1","HNRNPA2B1","IDS","IFIH1","IKBKG","IL36RN","IL6ST","IRF5","JUP","KCNJ5","KCTD1","KIF1B","LAMP2","LDB3","LIMK1","LMNA","LRPPRC","LTBP1","MAPRE2","MAX","MDH2","MECP2","METTL27","MLXIPL","MST1","MT-CO1","MT-CO2","MT-CO3","MT-CYB","MT-ND1","MT-ND5","MT-ND6","MT-TC","MT-TE","MT-TF","MT-TK","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TV","MT-TW","MTTP","MYBPC3","MYD88","MYH6","MYH7","MYL3","MYLK2","MYPN","MYSM1","NCF1","NDUFAF1","NDUFB11","NF1","NKX2-5","NPPA","NSMCE2","OPA1","PDE11A","PEX7","PHYH","PLN","PLOD1","PNPLA2","PPA2","PPARG","PRDM16","PRKAG2","PRKAR1A","PSEN1","PSEN2","PSMB8","PTEN","RAB3GAP2","RAF1","RASA1","RBCK1","RBM20","RET","RFC2","RPS19","RYR1","SCN1B","SCN4A","SCN5A","SCO1","SDHA","SDHAF2","SDHB","SDHC","SDHD","SELENON","SEMA4D","SF3B1","SGCA","SGCD","SLC17A5","SLC19A2","SLC22A5","SLC25A11","SLC25A26","SLC25A3","SLC2A10","SMAD4","SMARCAL1","SNAP29","SPTBN1","STAT1","STRADA","STX1A","TAB2","TAFAZZIN","TBL2","TBX20","TCF4","TET2","TF","TFAM","TLL1","TMEM127","TMEM270","TMEM43","TMEM70","TNNC1","TNNI3","TNNI3K","TNNT2","TOM1","TPI1","TPM1","TRIM37","TRIP4","TRPM4","TTN","TTR","TUBB","VCL","VCP","VEZF1","VHL","VPS33A","VPS37D","WRN","XYLT1","XYLT2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_TETRALOGY_OF_FALLOT":{"collection":"C5:HPO","systematicName":"M35365","pmid":"","exactSource":"HP:0001636","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001636","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TETRALOGY_OF_FALLOT","geneSymbols":["ALX1","ALX3","ARHGAP31","ARID1A","ARID1B","ARID2","ARVCF","BAZ1B","BCL7B","BICRA","BRAF","BRCA1","BRCA2","BRIP1","BUD23","CACNA1C","CASZ1","CCDC22","CDK8","CDON","CHD4","CHD7","CHRM3","CHUK","CITED2","CLIP2","COMT","COX7B","CXCR2","CXCR4","DACT1","DDX11","DDX3X","DDX59","DGCR2","DGCR6","DGCR8","DISP1","DLL1","DLL4","DNAJC30","DOCK6","DPF2","DPYSL5","EHMT1","EIF4H","ELN","EOGT","ERCC4","ESS2","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FGF8","FGFR1","FIG4","FKBP6","FLT4","FOXC2","FOXF1","FOXH1","GABRD","GAS1","GATA1","GATA4","GATA5","GATA6","GDF1","GJA5","GLI2","GNPAT","GP1BB","GTF2I","GTF2IRD1","GTF2IRD2","HIBCH","HIRA","HSPG2","INTU","JAG1","JMJD1C","KCNAB2","KDR","LIMK1","LUZP1","MAD2L2","MAPKAPK5","METTL27","MKKS","MLXIPL","MMP23B","MYRF","NCF1","NIPA1","NIPA2","NKX2-5","NKX2-6","NODAL","NOTCH1","NOTCH2","NR2F2","NXN","PAH","PALB2","PDPN","PIGL","PIGN","PLXND1","PQBP1","PRDM16","PRKCZ","PTCH1","PUF60","RAB23","RAD21","RAD51","RAD51C","RBM10","RBM8A","RBPJ","RERE","RFC2","RFWD3","RNU4ATAC","ROBO1","ROR2","RPL11","RPL5","RRAS2","RREB1","SALL1","SALL4","SEC24C","SEMA3E","SF3B2","SF3B4","SHH","SIX3","SKI","SKIC2","SKIC3","SLC35A2","SLC37A4","SLX4","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SOX11","SOX4","SPECC1L","SPEN","SRCAP","STRA6","STX1A","SUFU","TAB2","TBL2","TBX1","TDGF1","TGIF1","TMEM260","TMEM270","TMEM94","TUBG1","UBE2A","UBE2T","UBE4B","UFD1","VAC14","VPS35L","VPS37D","WASHC5","WT1","XRCC2","ZEB2","ZFPM2","ZIC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_MYOCARDIUM_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M35366","pmid":"","exactSource":"HP:0001637","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001637","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MYOCARDIUM_MORPHOLOGY","geneSymbols":["AARS1","AARS2","ABCC6","ABCC8","ABCC9","ABHD5","ACAD8","ACAD9","ACADS","ACADVL","ACTA1","ACTC1","ACTN2","ADA2","ADAR","ADCY5","ADORA2A","AGK","AGL","AGPAT2","AHCY","AIP","ALG1","ALG3","ALMS1","ALPK3","ANK1","ANKRD1","ANKRD11","ANKS6","ANO5","ARSB","ATAD3A","ATP1A2","ATP1A3","ATP5F1A","ATP5F1D","ATP5F1E","ATP5MK","ATP6V1A","ATPAF1","ATPAF2","B2M","BAG3","BAG5","BAZ1B","BBS2","BCL7B","BCS1L","BMP2","BMP6","BOLA3","BRAF","BRCA1","BRCA2","BRCC3","BRIP1","BSCL2","BUD23","C1QBP","C4A","CACNA1A","CALM2","CAP2","CARS1","CASQ2","CASZ1","CAV1","CAV3","CAVIN1","CCND1","CCR1","CDKN1C","CENPE","CHKB","CISD2","CLIP2","CLN3","CLPB","COA5","COA6","COA8","COL7A1","COQ2","COQ4","COX10","COX14","COX15","COX6B1","COX7B","CPT1A","CPT2","CRLS1","CRYAB","CSRP3","D2HGDH","DCAF8","DDX3X","DEF6","DES","DHCR7","DLD","DLK1","DMD","DNAJB4","DNAJC19","DNAJC21","DNAJC30","DOLK","DPM3","DSC2","DSG2","DSP","DTNA","ECHS1","EIF4H","ELAC2","ELN","EMD","ENPP1","EPB42","EPG5","ERAP1","ERBB3","ERCC2","ERCC3","ERCC4","ERCC6","ERCC8","EYA4","FAH","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FAS","FASTKD2","FBXL4","FHL1","FHL2","FHOD3","FIG4","FKBP6","FKRP","FKTN","FLAD1","FLNA","FLNC","FNIP1","FOS","FOXRED1","FTO","FXN","GAA","GABRD","GATA4","GATA5","GATAD1","GATC","GBA1","GBE1","GJA5","GLA","GLB1","GMPPB","GNAI2","GNE","GNPTAB","GNS","GPC3","GPC4","GPR101","GPX4","GSN","GTF2E2","GTF2H5","GTF2I","GTF2IRD1","GTF2IRD2","GTPBP3","GUSB","GYG1","GYS1","HADH","HADHA","HADHB","HAMP","HAND2","HBB","HCCS","HCN4","HFE","HGSNAT","HJV","HLA-B","HMGCL","HNRNPA1","HNRNPA2B1","HPS1","HRAS","HSD17B10","HSPG2","IDH2","IDS","IDUA","IFIH1","IFNGR1","IGF2","IKZF1","IL10","IL12A","IL12A-AS1","IL12B","IL23R","INSR","IRF4","ITPA","JAG2","JPH2","JUP","KANSL1","KAT6B","KBTBD13","KCNAB2","KCNH1","KCNJ11","KCNJ2","KCNJ5","KCNJ8","KCNQ1","KCNQ1OT1","KIF20A","KLF1","KLHL24","KLHL41","KLRC4","KRAS","LAMA2","LAMA3","LAMA4","LAMB3","LAMC2","LAMP2","LDB3","LETM1","LIAS","LIMK1","LIMS2","LMNA","LMOD2","LRP12","LRPPRC","LSM11","LTBP4","LUZP1","LZTR1","MAD2L2","MAP2K1","MAP2K2","MC2R","MCM10","MEFV","MEG3","MEN1","METTL27","MGME1","MIB1","MICOS13","MICU1","MIPEP","MLX","MLXIPL","MLYCD","MMACHC","MMP1","MMP23B","MMUT","MPLKIP","MRAP","MRAS","MRPL3","MRPL44","MRPS14","MRPS22","MT-ATP6","MT-ATP8","MT-CO1","MT-CO2","MT-CO3","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND5","MT-ND6","MT-TE","MT-TF","MT-TH","MT-TK","MT-TL1","MT-TN","MT-TQ","MT-TS1","MT-TS2","MT-TT","MT-TV","MT-TW","MTO1","MYBPC3","MYH6","MYH7","MYL2","MYL3","MYLK2","MYO18B","MYOCD","MYOT","MYOZ2","MYPN","MYSM1","NAGA","NAGLU","NAXD","NBAS","NCF1","NDUFA1","NDUFA10","NDUFA11","NDUFA2","NDUFA6","NDUFAF1","NDUFAF2","NDUFAF3","NDUFAF4","NDUFAF5","NDUFAF8","NDUFB10","NDUFB11","NDUFB3","NDUFB7","NDUFB9","NDUFS1","NDUFS2","NDUFS3","NDUFS4","NDUFS6","NDUFS7","NDUFS8","NDUFV1","NDUFV2","NEB","NEK8","NEU1","NEXN","NF1","NFS1","NNT","NONO","NPPA","NRAS","NUBPL","NUP107","OPA1","PALB2","PARS2","PCCA","PCCB","PDGFRA","PDPN","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PEX7","PGM1","PHKA2","PHKG2","PHYH","PIGT","PKP2","PLN","PMM2","PNPLA2","POLG","POLG2","POMGNT1","POMK","POMT1","POMT2","PPA2","PPARG","PPCS","PPP1CB","PPP1R21","PRDM16","PRKAG2","PRKCZ","PRUNE1","PSEN1","PSEN2","PTPN11","PYGL","PYGM","QRSL1","RAB3GAP2","RAD51","RAD51C","RAF1","RBCK1","RBM20","RERE","RFC2","RFWD3","RIT1","RMND1","RMRP","RNASEH1","RNASEH2A","RNASEH2B","RNASEH2C","RNF113A","RNF220","RNU4ATAC","RNU7-1","RPL3L","RRAGD","RRM2B","RTL1","RYR2","SAMHD1","SARDH","SBDS","SCARB2","SCN5A","SCO2","SDHA","SDHAF1","SDHB","SDHD","SERPINE1","SGCA","SGCB","SGCD","SGSH","SHMT2","SHOC2","SKI","SLC19A2","SLC1A3","SLC22A5","SLC25A20","SLC25A3","SLC25A4","SLC2A10","SLC30A10","SLC40A1","SLC4A1","SLC5A6","SLC6A6","SLX4","SMC1A","SMPX","SOS1","SPEG","SPEN","SPRED2","SPTA1","SPTB","SQSTM1","SRP54","STAR","STAT4","STX1A","SUCLG1","SUFU","SURF1","SYNE1","SYNE2","TAF1A","TAFAZZIN","TANGO2","TAPT1","TARS1","TBL2","TCAP","TERT","TFR2","TGFB1","TGFB3","TIA1","TIMMDC1","TK2","TKFC","TLR4","TMEM126A","TMEM126B","TMEM270","TMEM43","TMEM70","TMPO","TNFRSF1A","TNNC1","TNNI3","TNNI3K","TNNT1","TNNT2","TOP3A","TPI1","TPM1","TPM2","TPM3","TRDN","TREX1","TRIM37","TRIP4","TRMT5","TRNT1","TSFM","TTN","TTPA","TTR","TULP3","TWNK","TXNRD2","UBAC2","UBE2T","UBE3C","UBE4B","UBR1","UCP2","UQCRFS1","USP9X","VAC14","VARS2","VCL","VCP","VEZF1","VHL","VPS13A","VPS33A","VPS37D","WARS2","WFS1","XK","XRCC2","XRCC4","XYLT1","XYLT2","YARS2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPERTROPHIC_CARDIOMYOPATHY":{"collection":"C5:HPO","systematicName":"M35367","pmid":"","exactSource":"HP:0001639","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001639","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERTROPHIC_CARDIOMYOPATHY","geneSymbols":["AARS2","ABCC8","ABCC9","ACAD9","ACADVL","ACTC1","ACTN2","ADAR","AGK","AGPAT2","AIP","ALPK3","ANKS6","ATAD3A","ATP5F1A","ATP5F1D","ATP5F1E","ATP5MK","ATP6V1A","ATPAF1","ATPAF2","BAG3","BAZ1B","BCL7B","BCS1L","BOLA3","BRAF","BRCA1","BRCA2","BRIP1","BSCL2","BUD23","CAV1","CAV3","CAVIN1","CLIP2","CLN3","COA5","COA6","COA8","COQ2","COQ4","COX14","COX15","COX6B1","COX7B","CPT1A","CRLS1","CRYAB","CSRP3","DES","DHCR7","DLD","DLK1","DNAJB4","DNAJC30","ECHS1","EIF4H","ELAC2","ELN","EMD","ERCC4","FAH","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FASTKD2","FBXL4","FHL1","FHOD3","FKBP6","FLNC","FNIP1","FOS","FOXRED1","FTO","FXN","GAA","GATA4","GLA","GLB1","GNPTAB","GNS","GPR101","GTF2I","GTF2IRD1","GTF2IRD2","GTPBP3","HADH","HADHA","HCCS","HGSNAT","HLA-B","HRAS","HSD17B10","IFIH1","IL12B","INSR","JPH2","KCNJ11","KCNJ8","KIF20A","KLF1","KLHL24","KRAS","LAMP2","LIAS","LIMK1","LMNA","LRP12","LRPPRC","LSM11","LZTR1","MAD2L2","MAP2K1","MAP2K2","MC2R","MEG3","MEN1","METTL27","MICOS13","MIPEP","MLX","MLXIPL","MRAP","MRAS","MRPL3","MRPL44","MRPS14","MRPS22","MT-ATP6","MT-ATP8","MT-CO1","MT-CO2","MT-CO3","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND5","MT-ND6","MT-TE","MT-TF","MT-TH","MT-TK","MT-TL1","MT-TN","MT-TQ","MT-TS1","MT-TS2","MT-TV","MT-TW","MTO1","MYBPC3","MYH6","MYH7","MYL2","MYL3","MYLK2","MYOZ2","MYPN","NAGA","NAGLU","NCF1","NDUFA1","NDUFA10","NDUFA11","NDUFA2","NDUFA6","NDUFAF1","NDUFAF2","NDUFAF3","NDUFAF4","NDUFAF5","NDUFAF8","NDUFB10","NDUFB11","NDUFB3","NDUFB7","NDUFB9","NDUFS1","NDUFS2","NDUFS3","NDUFS4","NDUFS6","NDUFS7","NDUFS8","NDUFV1","NDUFV2","NEK8","NEXN","NF1","NFS1","NNT","NRAS","NUBPL","OPA1","PALB2","PLN","PMM2","PPA2","PPARG","PPP1CB","PPP1R21","PRKAG2","PRUNE1","PTPN11","PYGL","PYGM","QRSL1","RAD51","RAD51C","RAF1","RFC2","RFWD3","RIT1","RNASEH2A","RNASEH2B","RNASEH2C","RNU7-1","RTL1","SAMHD1","SARDH","SCO2","SDHA","SDHAF1","SDHB","SDHD","SGSH","SHMT2","SHOC2","SLC22A5","SLC25A3","SLC25A4","SLC2A10","SLC30A10","SLX4","SMC1A","SOS1","SPRED2","STAR","STX1A","SUCLG1","SUFU","SURF1","SYNE1","SYNE2","TAFAZZIN","TANGO2","TAPT1","TBL2","TCAP","TGFB1","TIMMDC1","TKFC","TMEM126A","TMEM126B","TMEM270","TMEM43","TMEM70","TNNC1","TNNI3","TNNT2","TPI1","TPM1","TREX1","TRMT5","TSFM","TTN","TTPA","TTR","TULP3","TXNRD2","UBE2T","UBE3C","UCP2","UQCRFS1","VARS2","VCL","VPS33A","VPS37D","XRCC2","YARS2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CARDIOMEGALY":{"collection":"C5:HPO","systematicName":"M35368","pmid":"","exactSource":"HP:0001640","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001640","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CARDIOMEGALY","geneSymbols":["AARS2","ABCC6","ABCC9","ACADM","ACADVL","ACTA2","ACTN2","ADAR","ALPK3","ASXL1","B3GAT3","BAZ1B","BCL7B","BMP2","BMP6","BUD23","C1QBP","CACNA1C","CDKN1C","CHST3","CLIC2","CLIP2","COX5A","COX6B1","CPT1A","CPT2","DES","DNAJC30","DOHH","DSP","DYSF","EIF4H","ELN","ENPP1","FBN1","FHL1","FIG4","FKBP6","FOCAD","FOXE3","FUCA1","GAA","GATB","GBA1","GNPTAB","GTF2I","GTF2IRD1","GTF2IRD2","HBB","HEXB","HEY2","HFE","HSD17B10","HYMAI","IFIH1","IGF2","JUP","KCNJ8","KCNQ1","KCNQ1OT1","LAMP2","LIMK1","LOX","LSM11","MAT2A","METTL27","MFAP5","MLXIPL","MOGS","MT-CYB","MTO1","MTTP","MYBPC3","MYH11","MYLK","NAA10","NAGA","NAGLU","NCF1","NDUFB7","NDUFC2","NEK9","NEU1","NHLRC2","NKX2-6","NONO","PAM16","PEX7","PGM1","PHYH","PIGS","PLAGL1","PLXND1","PRKAG2","PRKAR1A","PRKG1","PSMB8","RFC2","RNASEH2A","RNASEH2B","RNASEH2C","RNU7-1","SAMHD1","SDHA","SLC17A5","SLC22A5","SLC29A3","SLC31A1","SMAD2","SMAD3","SMAD4","STAT2","STX1A","TAPT1","TBL2","TET3","TGFB2","TGFB3","TGFBR1","TGFBR2","THSD4","TMEM270","TREX1","TRIM37","TTR","VAC14","VPS37D","WDR37","ZIC3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_PULMONARY_VALVE_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M35369","pmid":"","exactSource":"HP:0001641","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001641","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PULMONARY_VALVE_MORPHOLOGY","geneSymbols":["ARHGAP31","ARVCF","ATRX","B3GLCT","BRAF","CBL","CLCN7","COMT","DACT1","DAXX","DDX3X","DLL4","DOCK6","DYRK1A","EOGT","FLT4","FOXF1","GP1BB","HIRA","IDS","JMJD1C","KAT5","KIF7","KRAS","LZTR1","MRAS","NOTCH1","NRAS","NXN","PIGL","POLA1","POLR3A","PRKAR1A","PTPN11","RAF1","RASA2","RBPJ","RIT1","RNF135","ROR2","RRAS","RRAS2","RREB1","SALL1","SEC24C","SNX10","SOS1","SOS2","SPRED2","TBX1","TCIRG1","TGFBR1","TGFBR2","TMEM70","TNFSF11","UFD1","ZEB2","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PULMONIC_STENOSIS":{"collection":"C5:HPO","systematicName":"M35370","pmid":"","exactSource":"HP:0001642","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001642","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PULMONIC_STENOSIS","geneSymbols":["ACAD8","ADAMTS10","ADAMTS19","ADK","AGO2","ANKS6","ARHGAP31","ARPC4","B3GLCT","B4GALT7","BAZ1B","BCL7B","BCOR","BMP2","BPTF","BRAF","BUB1B","BUD23","CCDC22","CCDC32","CCNQ","CDC42","CHD3","CHD7","CHST3","CIC","CIROP","CLIP2","COL3A1","CREBBP","CUL3","DCHS1","DDX3X","DNAJC30","DPYSL5","DSG1","EIF4H","ELN","ENPP1","EP300","FAT4","FBN1","FBXW11","FKBP6","FKTN","FLT4","G6PC3","GATA4","GATA6","GDF1","GPC3","GPC4","GTF2I","GTF2IRD1","GTF2IRD2","HIVEP2","HRAS","IGFBP7","KANSL1","KAT6A","KCNH1","KDM6A","KIF20A","KRAS","LIMK1","LRP4","LTBP2","LZTR1","MAP2K1","MAP2K2","MAP3K7","METTL27","MGP","MLXIPL","MRAS","NCF1","NEK8","NEK9","NF1","NKX2-6","NOTCH1","NOTCH2","NRAS","NRXN1","OTUD5","PGAP1","PLD1","PLXND1","POLR3A","PPP1CB","PRDM5","PSMD12","PTPN11","RAB23","RAD21","RAF1","RFC2","RIT1","RNF135","RPL27","SARDH","SGO1","SHOC2","SKIC3","SLC29A3","SMAD2","SMAD3","SMAD6","SMARCA4","SMC3","SMC5","SOS1","SOS2","SPRED1","SPRED2","STRA6","STX1A","TAB2","TBCK","TBL2","TBX2","TMEM270","TRAF7","VPS35L","VPS37D","WAC","WASHC5","WNT4","ZEB2","ZIC3","ZNF341","ZNF469","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PATENT_DUCTUS_ARTERIOSUS":{"collection":"C5:HPO","systematicName":"M35371","pmid":"","exactSource":"HP:0001643","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001643","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PATENT_DUCTUS_ARTERIOSUS","geneSymbols":["ABCC9","ABCD4","ACSL4","ACTA2","ACTB","ADAMTS10","ADAT3","AFF4","AGGF1","AGO2","ALB","ALG12","ALG8","AMER1","AMMECR1","ANK1","ANKS6","APC2","ARF1","ARFGEF2","ARID1A","ARID1B","ARID2","ARL6IP6","ARSL","ARVCF","ARX","ASCC1","ASXL2","B3GLCT","BAZ1B","BCL7B","BCOR","BMPR1A","BPTF","BRAF","BRCA1","BRCA2","BRIP1","BUD23","C2CD3","CACNA1C","CADM3","CALM3","CASZ1","CCDC22","CCDC47","CD96","CDC42","CDC42BPB","CEP120","CHD4","CHD7","CHRM3","CIROP","CLIP2","COA6","COG6","COL18A1","COMT","COQ4","CREBBP","CSGALNACT1","CTCF","CTU2","CUX1","DACT1","DDX3X","DHCR24","DHCR7","DMPK","DNAH9","DNAJC30","DNMT3A","DPF2","DPM1","DTNA","DVL3","DYNC2LI1","DYRK1A","ECE1","EED","EIF4H","ELN","EOGT","EP300","ERCC4","ERMARD","ESCO2","EXT2","EZH2","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FBN1","FBN2","FGF10","FGFR2","FGFR3","FKBP14","FKBP6","FLNA","FOCAD","FOXC1","FOXC2","FOXE3","FOXF1","FOXP2","FRA10AC1","FTO","FUT8","G6PC3","GABRD","GATA1","GATA4","GATA6","GJA1","GJA5","GJA8","GLB1","GLI3","GLYCTK","GNA11","GP1BB","GPC3","GPC4","GTF2I","GTF2IRD1","GTF2IRD2","HACD1","HDAC4","HEY2","HIRA","HPGD","HSPG2","HTRA2","HYMAI","IFT27","IGBP1","IGF2","IPO8","JMJD1C","KANSL1","KAT6A","KAT6B","KAT8","KCNAB2","KCNE5","KCNH1","KCNJ8","KCNN3","KMT2A","KMT2B","KRAS","KYNU","LARS2","LIMK1","LMBRD1","LMNA","LMX1B","LOX","LUZP1","LZTR1","MAD2L2","MAF","MAP1B","MAP2K1","MAP3K7","MAPKAPK5","MASP1","MAT2A","MCTP2","MED11","MED12","MEGF8","METTL27","MFAP5","MGAT2","MID1","MKKS","MKS1","MLXIPL","MMP23B","MRPS16","MYCN","MYH11","MYH7","MYLK","MYOCD","MYRF","NAA10","NAA20","NADSYN1","NCAPG2","NCF1","NEDD4L","NFIX","NKX2-5","NKX2-6","NODAL","NONO","NOTCH2","NOTCH3","NPHP3","NSD1","OCLN","PACS1","PAK2","PALB2","PCGF2","PCNT","PDPN","PEX1","PEX19","PHGDH","PIGA","PIGN","PIGT","PLAGL1","PLCB3","PLXND1","POGZ","POLR1A","POLR1B","POLR1C","POLR1D","PORCN","PPFIBP1","PPP1CB","PRDM13","PRDM16","PRDM6","PRIM1","PRKCZ","PRKG1","PSMD12","PTEN","PTPN11","PUF60","RAB23","RAC1","RAD51","RAD51C","RBM8A","RBP4","RERE","RFC2","RFWD3","RIT1","RPL11","RPL5","RPS26","RREB1","RSPRY1","SALL1","SALL4","SAMD9","SEC24C","SEMA3E","SETD2","SF3B2","SF3B4","SHANK3","SIK3","SIX6","SKI","SKIC2","SKIC3","SLC25A24","SLC29A3","SLX4","SMAD2","SMAD3","SMAD4","SMARCA2","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SMC3","SMC5","SNRPB","SNRPN","SNX14","SON","SOX11","SOX2","SOX4","SPECC1L","SPEN","SSR4","STAG2","STRA6","STX1A","STXBP1","SUCLG1","SUPT16H","TALDO1","TBC1D24","TBL2","TBX1","TBX2","TBX4","TBX5","TCOF1","TFAP2B","TGFB2","TGFB3","TGFBR1","TGFBR2","THOC6","THSD1","THSD4","TKT","TMCO1","TMEM270","TMEM94","TMTC3","TP63","TRAF7","TRIO","TRIP11","TRIP4","TRPV6","TRRAP","TSFM","TTC26","TWIST1","UBE2A","UBE2T","UBE4B","UBR7","UFC1","UFD1","UMPS","USP18","USP9X","VPS33A","VPS37D","WAC","WDPCP","WDR35","WDR37","WLS","WT1","XRCC2","YY1AP1","ZBTB7A","ZEB2","ZIC3","ZMIZ1","ZMPSTE24","ZMYM2","ZNF148","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DILATED_CARDIOMYOPATHY":{"collection":"C5:HPO","systematicName":"M35372","pmid":"","exactSource":"HP:0001644","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001644","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DILATED_CARDIOMYOPATHY","geneSymbols":["ABCC9","ACAD8","ACAD9","ACADVL","ACTA1","ACTC1","ACTN2","ADA2","ADCY5","ALMS1","ANKRD1","ANKRD11","ATP5F1A","ATP5F1D","ATP5F1E","ATP5MK","ATPAF1","ATPAF2","BAG3","BAG5","BBS2","BOLA3","BRCC3","CAP2","CASQ2","CASZ1","CHKB","COL7A1","COX7B","CPT2","CRYAB","CSRP3","DEF6","DES","DMD","DNAJC19","DOLK","DPM3","DSG2","DSP","ENPP1","EPG5","ERBB3","EYA4","FHL1","FHL2","FKRP","FKTN","GABRD","GATA5","GATAD1","GLB1","GTPBP3","HADH","HADHA","HADHB","HAMP","HAND2","HBB","HCCS","HJV","HMGCL","HSPG2","JPH2","JUP","KAT6B","KCNAB2","KCNJ2","KCNJ5","LAMA3","LAMA4","LAMB3","LAMC2","LAMP2","LDB3","LIMS2","LMNA","LMOD2","LRP12","LUZP1","MEFV","MGME1","MLYCD","MMACHC","MMP1","MMP23B","MT-ATP6","MT-ATP8","MT-CO1","MT-CO2","MT-CO3","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND5","MT-ND6","MT-TF","MT-TH","MT-TK","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TV","MT-TW","MYBPC3","MYH6","MYH7","MYL2","MYPN","NAXD","NDUFB11","NEXN","NUP107","PDPN","PGM1","PLN","POLG","POLG2","POMT2","PPCS","PRDM16","PRKCZ","PSEN1","PSEN2","RAF1","RBCK1","RBM20","RERE","RNF220","RPL3L","RRAGD","RRM2B","RYR2","SCN5A","SDHA","SDHD","SGCA","SGCB","SGCD","SKI","SLC25A4","SLC2A10","SLC5A6","SLC6A6","SPEG","SPEN","SYNE1","SYNE2","TAF1A","TAFAZZIN","TCAP","TERT","TKFC","TMEM43","TMPO","TNNC1","TNNI3","TNNI3K","TNNT2","TOP3A","TPM1","TPM3","TRDN","TSFM","TTN","TWNK","TXNRD2","UBE4B","UBR1","VCL","VEZF1","VPS13A","XK","XRCC4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_AORTIC_VALVE_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M35374","pmid":"","exactSource":"HP:0001646","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001646","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_AORTIC_VALVE_MORPHOLOGY","geneSymbols":["ABCC9","ACSL4","ACTA2","ACTB","ADA2","ADAMTS19","AGO2","AMMECR1","ARHGAP31","ARSK","ARVCF","B3GALT6","B3GAT3","BAZ1B","BBS2","BCAS3","BCL7B","BCOR","BRAF","BRCA1","BRCA2","BRIP1","BUD23","CAPN15","CBL","CCNQ","CHD7","CHRNG","CHST3","CLIP2","COMT","CREBBP","DNAJC30","DOHH","DPF2","EDNRA","EIF4H","ELN","EP300","ERCC4","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FBN1","FBN2","FDFT1","FKBP6","FLNA","FOXE3","FOXF1","GATA5","GATA6","GBA1","GJA5","GJA8","GLA","GNPTAB","GP1BB","GTF2I","GTF2IRD1","GTF2IRD2","H3-3A","H3-3B","HEY2","HGD","HIRA","HLA-B","HNRNPK","IFIH1","IFT122","IL12B","JMJD1C","KANSL1","KCNE5","KIF3B","LIMK1","LMNA","LOX","LRPPRC","MAD2L2","MAP2K2","MAP3K7","MAT2A","MCTP2","METTL27","MFAP5","MLX","MLXIPL","MMP14","MMP2","MMP21","MYH11","MYH3","MYH7","MYLK","MYOCD","NAA10","NADSYN1","NCF1","NFE2L2","NFIX","NKX2-5","NOTCH1","NOTCH3","NXN","OGT","PACS1","PALB2","PLCH1","PPM1D","PPP2R5D","PRKG1","PUF60","RAC1","RAD51","RAD51C","RAI1","RFC2","RFWD3","RIGI","ROBO4","RPL26","RPS6KA3","RREB1","SEC24C","SEMA3E","SGO1","SH2B1","SKI","SKIC2","SKIC3","SLC25A24","SLX4","SMAD2","SMAD3","SMAD4","SMAD6","SMC3","SNIP1","SPTBN1","SRY","STX1A","TAB2","TAF2","TBL2","TBX1","TGFB2","TGFB3","TGFBR1","TGFBR2","THSD4","TMEM270","TMEM70","TNXB","UBE2T","UFD1","VPS37D","WAC","WT1","XRCC2","XYLT2","YY1AP1","ZEB2","ZMPSTE24","ZNF462"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_COR_PULMONALE":{"collection":"C5:HPO","systematicName":"M35375","pmid":"","exactSource":"HP:0001648","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001648","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_COR_PULMONALE","geneSymbols":["ACTA1","BTK","CFTR","FCGR2A","FLNA","HACD1","ITGA7","MAP3K20","MYL2","SELENON","SREBF1","TGFB1","TPM2","TPM3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_TACHYCARDIA":{"collection":"C5:HPO","systematicName":"M35376","pmid":"","exactSource":"HP:0001649","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001649","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TACHYCARDIA","geneSymbols":["ABCA3","ABCC8","ABCC9","ACADVL","ACTC1","ACTN2","AKAP9","AMN","ASXL1","BAG5","BMP2","BTNL2","CACNA1C","CACNA1S","CACNA2D1","CACNB2","CALM1","CALM2","CALM3","CASQ2","CAVIN1","CDH2","CITED2","CNBP","COX7B","CPOX","CPT2","CRYAB","CSF2RA","CSF2RB","CSRP3","CTNNA3","CUBN","DNMT3A","DSG2","DSP","DST","ECE1","ELP1","FBP1","FLAD1","FMO3","GATA4","GATA6","GNAI2","GPD1L","GYG1","HCCS","HCN4","HLA-DRB1","HMBS","HNF1A","HNF4A","JPH2","JUP","KCND3","KCNE3","KCNE5","KCNJ11","KCNJ18","KCNJ2","KCNJ5","KCNJ8","KCTD1","KIT","KYNU","LAMP2","LMNA","LMOD2","MAX","MT-CYB","MYH6","MYH7","MYL2","MYOZ2","MYRF","NAA10","NAXD","NDUFB11","NKX2-5","NKX2-6","NPPA","NUP155","PGM1","PKP2","PLXND1","PPOX","PRORP","PYGM","RANGRF","RET","RHAG","RHCE","RHD","RYR1","RYR2","SCN10A","SCN1B","SCN2B","SCN3B","SCN5A","SCN9A","SCNN1A","SDHB","SDHC","SDHD","SEMA3A","SFTPB","SFTPC","SLC12A3","SLC19A2","SLC25A20","SLMAP","SPRED1","SRSF2","SRY","TANGO2","TBX20","TECRL","TET2","TLL1","TMEM127","TMEM43","TNNI3K","TPM1","TRDN","TRPM4","TSHR","TTN","UCP2","VHL","VPS33A","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_AORTIC_VALVE_STENOSIS":{"collection":"C5:HPO","systematicName":"M35377","pmid":"","exactSource":"HP:0001650","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001650","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AORTIC_VALVE_STENOSIS","geneSymbols":["ACTB","ADAMTS10","ADAMTSL2","AMER1","ANKS6","ARHGAP31","ARSK","B4GALT7","BCOR","CBL","CCDC22","CHST3","CLIC2","CREBBP","DPH1","DPH2","DPYSL5","DYRK1A","EBP","EHMT1","EP300","FBN1","FGFR1","FLI1","FOXF1","GATA5","GBA1","GLB1","GNPTG","HAAO","IDUA","IFIH1","KRAS","LMNA","LTBP2","NEK8","NKX2-5","NOTCH1","NOTCH2","NPHP3","NR2F2","ODAD1","RIGI","RMRP","ROBO4","SCN1B","SLC2A10","SMAD4","SMAD6","SNIP1","TAB2","TAF2","TRAF7","TTR","TWIST1","VPS35L","VWF","WASHC5","WT1","ZEB2","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_HEART_VALVE_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M35378","pmid":"","exactSource":"HP:0001654","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001654","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_HEART_VALVE_MORPHOLOGY","geneSymbols":["ABCC6","ABCC9","ACSL4","ACTA2","ACTB","ACTC1","ADA2","ADAMTS19","ADNP","AEBP1","AGGF1","AGO2","AGR2","ALG5","ALG9","AMMECR1","ANK1","ARF1","ARFGEF2","ARHGAP31","ARSK","ARVCF","ATP6V1E1","ATRX","B3GALT6","B3GAT3","B3GLCT","BAZ1B","BBS2","BCAS3","BCL7B","BCOR","BGN","BICC1","BIN1","BRAF","BRCA1","BRCA2","BRF1","BRIP1","BUD23","CAPN15","CASZ1","CBL","CBS","CCDC22","CCNQ","CHD7","CHRNG","CHST14","CHST3","CITED2","CLCN7","CLIC2","CLIP2","COL1A1","COL1A2","COL2A1","COL3A1","COL5A1","COL5A2","COMT","COX7B","CPLX1","CREBBP","CTBP1","DACT1","DAXX","DCHS1","DDX3X","DLL4","DNAJB11","DNAJC30","DNASE1L3","DOCK6","DOHH","DPF2","DPYSL5","DSE","DYNC2LI1","DYRK1A","DZIP1","EDNRA","EIF4H","ELN","ENPP1","EOGT","EP300","ERCC4","ERMARD","EVC","EVC2","EXTL3","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FBN1","FBN2","FDFT1","FGFR1","FIBP","FKBP6","FLNA","FLT4","FMN2","FMR1","FOXE3","FOXF1","FREM1","GABRD","GALNS","GANAB","GATA1","GATA4","GATA5","GATA6","GBA1","GJA1","GJA5","GJA8","GLA","GLB1","GLI1","GNB2","GNPTAB","GP1BB","GTF2I","GTF2IRD1","GTF2IRD2","GUSB","H3-3A","H3-3B","HCCS","HCN4","HEXB","HEY2","HGD","HIRA","HLA-B","HNRNPH2","HNRNPK","HRAS","HSPG2","IDS","IDUA","IFIH1","IFT122","IFT140","IL12B","IPO8","JMJD1C","JPH2","KANSL1","KAT5","KCNAB2","KCNE5","KCNJ8","KIF3B","KIF7","KRAS","LETM1","LIMK1","LMNA","LOX","LRPPRC","LTBP3","LUZP1","LZTR1","MAD2L2","MAP1B","MAP2K1","MAP2K2","MAP3K7","MAPK1","MAT2A","MCTP2","MED12","METTL27","MFAP5","MLX","MLXIPL","MMP14","MMP2","MMP21","MMP23B","MRAS","MTX2","MYCN","MYH11","MYH3","MYH6","MYH7","MYLK","MYOCD","MYPN","MYRF","NAA10","NADSYN1","NCF1","NDUFB11","NEDD4L","NELFA","NF1","NFE2L2","NFIX","NKX2-5","NKX2-6","NONO","NOTCH1","NOTCH3","NPR3","NRAS","NSD2","NXN","OGT","PACS1","PALB2","PCGF2","PDPN","PIGG","PIGL","PKD1","PKD2","PLCH1","PLD1","PLOD1","PLXND1","POLA1","POLG","POLR3A","PPM1D","PPP2R5D","PRDM16","PRDM5","PRG4","PRKACA","PRKACB","PRKAR1A","PRKCZ","PRKG1","PTPN11","PUF60","RAC1","RAD51","RAD51C","RAF1","RAI1","RASA2","RBPJ","RERE","RFC2","RFWD3","RIGI","RIT1","RNF135","ROBO1","ROBO4","ROR2","RPL26","RPL5","RPS6KA3","RRAS","RRAS2","RREB1","RYR1","SACS","SALL1","SEC24C","SELENON","SEMA3E","SGO1","SH2B1","SH3PXD2B","SKI","SKIC2","SKIC3","SLC25A24","SLC29A3","SLC34A2","SLC6A6","SLX4","SMAD2","SMAD3","SMAD4","SMAD6","SMARCA4","SMC3","SMPD1","SNIP1","SNX10","SOS1","SOS2","SPEG","SPEN","SPRED1","SPRED2","SPTBN1","SRY","STX1A","TAB2","TAF2","TBL2","TBX1","TBX20","TCIRG1","TGFB2","TGFB3","TGFBR1","TGFBR2","THSD4","TLL1","TMEM260","TMEM270","TMEM70","TMEM94","TMTC3","TNFSF11","TNXB","TPM1","TPM2","TPM3","TRAF7","TTN","TWNK","UBE2T","UBE4B","UFD1","VPS13B","VPS35L","VPS37D","VWF","WAC","WASHC5","WT1","XRCC2","XYLT1","XYLT2","YY1","YY1AP1","ZEB2","ZIC3","ZMPSTE24","ZNF462","ZNF469","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PATENT_FORAMEN_OVALE":{"collection":"C5:HPO","systematicName":"M35379","pmid":"","exactSource":"HP:0001655","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001655","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PATENT_FORAMEN_OVALE","geneSymbols":["ACADVL","AFF4","AGO2","ALG12","AMMECR1","ANAPC7","ASCC1","ATN1","ATP6V1E1","B3GAT3","BICRA","CACNA1C","CACNA1D","CCNQ","CDC42BPB","CDK8","CHMP1A","CHST3","CIROP","COL11A1","CREBBP","CSGALNACT1","DDX6","DNA2","DPF2","DSE","DVL3","EP300","FANCI","FBXW11","FIG4","FLCN","FLNA","FOCAD","FOXF1","FRA10AC1","GATA1","GATA6","GNB5","GNPTAB","HACD1","HSPA9","IGF1R","IPO8","KATNB1","KDM1A","KMT2D","KRAS","LMNB1","LTBP4","MAP3K7","MED11","MED12","MED13L","MID1","MRPL3","MTX2","NAA10","NCAPG2","NDE1","NF1","NKX2-1","NKX2-5","NONO","NOTCH1","OCLN","PACS1","PHGDH","PIGN","PKDCC","PLD1","POGZ","PPP1CB","PPP2R5D","PRIM1","PRR12","RAC1","RAI1","RELN","RERE","RIPK4","RNU4ATAC","ROBO1","RPL3L","RSPRY1","SCUBE3","SDHD","SETD1A","SH3PXD2B","SMAD6","SMG8","SNRPN","STAG2","STAMBP","STAT1","STK4","SUCLG1","TALDO1","TASP1","TBX20","TGFB3","THSD1","TKT","TMEM147","TMEM94","TOM1","TRIP4","TRRAP","TSFM","TTC26","TWIST1","UBE2A","UBR7","UFC1","VPS33A","VPS33B","WDR35","WDR37","WLS","YY1","ZIC3","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PROLONGED_QT_INTERVAL":{"collection":"C5:HPO","systematicName":"M47047","pmid":"","exactSource":"HP:0001657","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001657","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROLONGED_QT_INTERVAL","geneSymbols":["ACADVL","AKAP9","ALG10B","ALPK3","ANK2","BPTF","CACNA1C","CACNA1S","CALM1","CALM2","CALM3","CAV3","CAVIN1","CLCNKB","DNAJC19","DPAGT1","FLNC","GABRA3","GMPPB","GNAS","GPC3","GPC4","HADH","HCN4","KCNA5","KCND3","KCNE1","KCNE2","KCNH2","KCNJ18","KCNJ2","KCNJ5","KCNQ1","MECP2","NOS1AP","PHOX2B","PSMD12","RYR1","SCN10A","SCN4B","SCN5A","SLC12A3","SLC6A8","SNTA1","SRY","STX16","SVIL","TANGO2","TBX5","TECRL","TNNI3K","TNNT2","TRDN","TRPM4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MYOCARDIAL_INFARCTION":{"collection":"C5:HPO","systematicName":"M47048","pmid":"","exactSource":"HP:0001658","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001658","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MYOCARDIAL_INFARCTION","geneSymbols":["ABCA1","ABCC6","ABCC9","ABCG5","ABCG8","ADAMTS13","APOB","ATRX","BAZ1B","BCHE","BCL7B","BRAF","BUD23","C4A","CALR","CBS","CCND1","CCR1","CDH23","CELA2A","CEP19","CFTR","CLIP2","CTNNB1","CYP27A1","DNAJC30","DYRK1B","EIF4H","ELN","ENPP1","EPOR","ERAP1","FAS","FKBP6","GATA4","GATA5","GATA6","GJA5","GLA","GTF2I","GTF2IRD1","GTF2IRD2","HGD","HLA-B","IFNGR1","IKZF1","IL10","IL12A","IL12A-AS1","IL12B","IL23R","IRF4","JAK2","KCNA5","KCNE1","KCNE2","KCNJ2","KCNJ3","KCNJ5","KCNQ1","KLRC4","LDLR","LDLRAP1","LIMK1","LMNA","LPL","LRP6","MEF2A","MEFV","METTL27","MLX","MLXIPL","MPL","MYH9","MYL4","NCF1","NKX2-5","NKX2-6","NPPA","NR3C1","NUP155","PCSK9","PIGA","PITX2","PTPN11","RAF1","RFC2","SCN1B","SCN2B","SCN3B","SCN4B","SCN5A","SCNN1A","SCNN1B","SCNN1G","SH2B3","SLC2A10","STAT4","STX1A","TBL2","TET2","THOC2","TLR4","TMEM270","TP53","TTN","UBAC2","USP48","USP8","VHL","VPS37D","WRN","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_AORTIC_REGURGITATION":{"collection":"C5:HPO","systematicName":"M35381","pmid":"","exactSource":"HP:0001659","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001659","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AORTIC_REGURGITATION","geneSymbols":["ACTA2","ADAMTS19","ALDH18A1","ARF1","ARFGEF2","ARSK","ATP6V1E1","BCR","BUB1","BUB1B","BUB3","C12orf57","C4A","CCNQ","CCR1","CEP57","CHST14","CHST3","COA6","COL1A2","CRKL","D2HGDH","DOHH","DYRK1A","EHMT1","ELN","ERAP1","ERMARD","FAS","FBLN5","FBN1","FLNA","FOXE3","GATA4","GATA5","GJA5","GJA8","GNPTAB","GNPTG","HCN4","HEATR3","HEY2","HLA-B","IDUA","IFNGR1","IL10","IL12A","IL12A-AS1","IL23R","KIFBP","KLRC4","LMNA","LMOD2","LOX","MAN2B1","MAP1B","MAPK1","MAT2A","MEFV","MFAP5","MYH11","MYLK","NEDD4L","NKX2-5","NKX2-6","NOTCH1","PCGF2","PDSS1","PEX2","PLXND1","PRKG1","PUF60","SHOC2","SKIC2","SKIC3","SLC2A10","SLC35A1","SMAD2","SMAD3","SMAD4","SMAD6","SON","SPRED2","SPTBN1","STAT4","SZT2","TAB2","TGFB2","TGFB3","TGFBR1","TGFBR2","THSD4","TLR4","TMTC3","TRIP13","TTC26","UBAC2","YY1AP1","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_TRUNCUS_ARTERIOSUS":{"collection":"C5:HPO","systematicName":"M35382","pmid":"","exactSource":"HP:0001660","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001660","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TRUNCUS_ARTERIOSUS","geneSymbols":["ARVCF","BCR","COMT","CRKL","DLL4","GATA6","GJA5","GJA8","GP1BB","HIRA","ITPR1","JMJD1C","MAPK1","NEK8","NKX2-5","NKX2-6","PLXND1","PSMD12","PUF60","RREB1","SEC24C","STRA6","TBX1","TMEM260","UFD1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BRADYCARDIA":{"collection":"C5:HPO","systematicName":"M35383","pmid":"","exactSource":"HP:0001662","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001662","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BRADYCARDIA","geneSymbols":["ABCA3","ACTA1","ACY1","AKAP9","ANK2","ASXL1","BRAT1","BVES","CACNA1C","CACNA1D","CACNA2D1","CALM1","CALM2","CALM3","CASQ2","CAV3","CAVIN1","CLN3","COQ4","COQ9","DES","DOLK","DST","DUOX2","DUOXA2","ECHS1","EFEMP2","GFM2","GLUL","GLYCTK","GNB2","GNB5","GRIN1","HCN4","HEPHL1","HESX1","HTRA2","IYD","KCNA5","KCNE1","KCNE2","KCNH2","KCNJ2","KCNJ5","KCNQ1","LAMA3","LAMB3","LAMC2","LHX3","LHX4","LIPT1","LMNA","MTO1","MYL4","MYO1H","NDUFA2","NDUFA8","NOS1AP","NPPA","PAX8","POU1F1","PPA2","PRKAG2","PROP1","SCN10A","SCN4A","SCN4B","SCN5A","SCN9A","SCO1","SFTPB","SFTPC","SGO1","SLC25A20","SLC4A3","SLC5A5","SNTA1","TBX5","TG","TLL1","TMEM43","TNNI3K","TNNT2","TPO","TRDN","TRPM4","TSHB","TSHR","TSPYL1","TWNK","UQCRFS1","USP18"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_VENTRICULAR_FIBRILLATION":{"collection":"C5:HPO","systematicName":"M35384","pmid":"","exactSource":"HP:0001663","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001663","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VENTRICULAR_FIBRILLATION","geneSymbols":["ABCC9","ACADVL","ACTC1","AKAP9","ALG10B","BAG5","CACNA1C","CACNA1S","CACNA2D1","CACNB2","CALM1","CALM2","CLCNKB","DHCR7","DPP6","DSP","GABRA3","GPD1L","GYG1","HCN4","KCND3","KCNE1","KCNE2","KCNE3","KCNE5","KCNH2","KCNJ18","KCNJ2","KCNJ8","KCNQ1","MYBPC3","MYL2","MYL3","NDUFB11","PKP2","PRKAG2","RANGRF","RYR2","SCN10A","SCN1B","SCN2B","SCN3B","SCN5A","SCNN1A","SEMA3A","SLC12A3","SLC4A3","SLMAP","SNTA1","TANGO2","TECRL","TNNC1","TRPM4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_TORSADE_DE_POINTES":{"collection":"C5:HPO","systematicName":"M35385","pmid":"","exactSource":"HP:0001664","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001664","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TORSADE_DE_POINTES","geneSymbols":["AKAP9","ALG10B","ANK2","CACNA1C","CALM1","CALM2","CALM3","CAV3","HCN4","KCNE1","KCNE2","KCNH2","KCNJ2","KCNJ5","KCNQ1","NAA10","NOS1AP","RYR2","SCN10A","SCN4B","SCN5A","SNTA1","TANGO2","TBX5","TRDN"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RIGHT_VENTRICULAR_HYPERTROPHY":{"collection":"C5:HPO","systematicName":"M35386","pmid":"","exactSource":"HP:0001667","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001667","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RIGHT_VENTRICULAR_HYPERTROPHY","geneSymbols":["ALPK3","ATP13A3","BMPR2","COLQ","DYSF","FOXF1","GPC3","GPC4","GTPBP3","IPO8","KMT2D","LAMB2","LTBP4","MYH7","NKX2-6","NONO","NOTCH1","NPHP3","PIGN","PLXND1","SELENON","SFTPB","SGCG","SLC25A12","STAMBP","TTN","VIPAS39","VPS33B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_TRANSPOSITION_OF_THE_GREAT_ARTERIES":{"collection":"C5:HPO","systematicName":"M35387","pmid":"","exactSource":"HP:0001669","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001669","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TRANSPOSITION_OF_THE_GREAT_ARTERIES","geneSymbols":["ACVR2B","ATP2B1","BMP2","CCDC103","CCDC39","CCDC40","CCDC65","CCNO","CFAP221","CFAP298","CFAP300","CFAP53","CFAP74","CFC1","CIROP","DNAAF1","DNAAF11","DNAAF2","DNAAF3","DNAAF4","DNAAF5","DNAAF6","DNAH1","DNAH11","DNAH5","DNAH9","DNAI1","DNAI2","DNAJB13","DNAL1","DRC1","FANCB","FKTN","FOXJ1","GAS2L2","GAS8","GATA4","GATA6","GDF1","GJA5","GJA8","GNB2","GPC3","GPC4","HYDIN","LMNA","LRRC56","MCIDAS","MED13L","MEGF8","MMP21","NEK10","NKX2-5","NKX2-6","NME5","NME8","NODAL","ODAD1","ODAD2","ODAD3","ODAD4","OFD1","PHGDH","PIGL","PLXND1","QRICH1","RAB23","RPGR","RSPH1","RSPH3","RSPH4A","RSPH9","SMAD2","SMG9","SPAG1","SPEF2","STK36","TBX1","TTC12","WT1","ZIC3","ZMPSTE24","ZMYND10","ZNF462"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ASYMMETRIC_SEPTAL_HYPERTROPHY":{"collection":"C5:HPO","systematicName":"M35388","pmid":"","exactSource":"HP:0001670","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001670","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ASYMMETRIC_SEPTAL_HYPERTROPHY","geneSymbols":["CAV3","FHOD3","GNS","HGSNAT","KLHL24","MYH6","MYH7","MYL2","MYLK2","MYOZ2","NAGLU","PRKAG2","SGSH"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CARDIAC_SEPTUM_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M35389","pmid":"","exactSource":"HP:0001671","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001671","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CARDIAC_SEPTUM_MORPHOLOGY","geneSymbols":["AARS1","ABCD4","ABL1","ACADVL","ACTA2","ACTC1","ACVR2B","ADA2","ADAMTS10","ADAT3","ADK","ADNP","AFF4","AGGF1","AGO2","AHI1","AKT3","ALDH1A2","ALG12","ALG8","ALG9","ALKBH8","ALPK3","AMER1","AMMECR1","ANAPC7","ANK1","ANKRD11","APC2","ARCN1","ARHGAP31","ARID1A","ARID1B","ARID2","ARSL","ARVCF","ARX","ASCC1","ASXL1","ASXL2","ATIC","ATN1","ATP2B1","ATP6V0A2","ATP6V1A","ATP6V1E1","ATP9A","ATRX","AUTS2","B3GALT6","B3GAT3","B3GLCT","BAP1","BAZ1B","BBS2","BCL7B","BCOR","BCR","BICRA","BMP2","BMPR1A","BRAF","BRCA1","BRCA2","BRD4","BRF1","BRIP1","BSCL2","BUB1","BUB1B","BUB3","BUD23","C2CD3","CACNA1C","CACNA1D","CALM3","CAMK2A","CANT1","CARS1","CASK","CASZ1","CCBE1","CCDC174","CCDC22","CCDC32","CCDC47","CCND2","CCNQ","CD96","CDC42","CDC42BPB","CDC45","CDH2","CDK10","CDK13","CDK8","CDKL5","CEP290","CEP57","CFAP45","CFAP53","CFC1","CHD3","CHD4","CHD7","CHMP1A","CHRM3","CHST14","CHST3","CIROP","CITED2","CKAP2L","CLCN3","CLIP2","COG1","COG6","COG7","COL11A1","COL1A1","COL1A2","COMT","COQ4","COX7B","CPE","CPLX1","CRB2","CREBBP","CRELD1","CRKL","CSGALNACT1","CSRP3","CTBP1","CTCF","CTU2","CUL3","CUX1","CWC27","CYP27A1","DACT1","DCPS","DDX11","DDX3X","DDX59","DDX6","DEF6","DGCR2","DGCR6","DGCR8","DHCR7","DLK1","DLL4","DMPK","DMXL2","DNA2","DNAH9","DNAJC19","DNAJC30","DNMT3A","DOHH","DPF2","DPH1","DPH2","DPH5","DPYSL5","DSE","DSG1","DST","DTNA","DVL3","DYNC2I1","DYNC2LI1","DYRK1A","ECE1","ECHS1","EFTUD2","EHMT1","EIF2AK3","EIF4H","ELN","EOGT","EP300","EPG5","EPHB4","ERBB3","ERCC2","ERCC3","ERCC4","ESCO2","ESS2","EVC","EVC2","EXOC2","EXT2","FADD","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FBN1","FBN2","FBXW11","FGF13","FGFR1","FGFR2","FGFR3","FGFRL1","FH","FIBP","FIG4","FKBP6","FKTN","FLCN","FLI1","FLNA","FLNB","FOCAD","FOXC1","FOXC2","FOXF1","FOXP2","FRA10AC1","FRMD5","FTCD","FTO","FUT8","G6PC3","GABRD","GATA1","GATA4","GATA5","GATA6","GDF1","GDF3","GDF6","GET3","GJA1","GJA5","GJA8","GLA","GLI1","GLI3","GNAO1","GNB2","GNB5","GNPTAB","GP1BB","GPC3","GPC4","GPC6","GPX4","GRIN1","GRM7","GTF2E2","GTF2H5","GTF2I","GTF2IRD1","GTF2IRD2","GYG1","H3-3A","H3-3B","H4C3","H4C9","HAAO","HACD1","HCCS","HDAC8","HEATR3","HIRA","HNRNPH2","HNRNPK","HNRNPR","HNRNPU","HOXA13","HOXD13","HRAS","HSPA9","HSPG2","HYLS1","HYMAI","IDH1","IFT172","IFT27","IFT81","IGBP1","IGF1R","INSR","INTU","IPO8","IRX5","JAG1","JAM3","JMJD1C","KANSL1","KAT5","KAT6A","KAT6B","KAT8","KATNB1","KCNA1","KCNAB2","KCNH1","KDM1A","KDM3B","KDM5B","KDM6A","KIAA0586","KIF11","KIF15","KIF7","KIFBP","KLHL41","KMT2A","KMT2D","KRAS","LAMA5","LARP7","LARS2","LBR","LEMD2","LETM1","LIMK1","LMBRD1","LMNA","LMNB1","LONP1","LRP2","LRP5","LTBP2","LTBP4","LUZP1","LZTR1","MACF1","MAD2L2","MAGEL2","MAP2K1","MAP2K2","MAP3K7","MAPK1","MAPKAPK5","MASP1","MBTPS2","MCTP2","MED11","MED12","MED13L","MED23","MED25","MEG3","MEGF8","MEIS2","MEOX1","METTL27","METTL5","MGAT2","MGP","MICU1","MID1","MIR17HG","MKKS","MKS1","MLXIPL","MMP14","MMP2","MMP21","MMP23B","MOGS","MPDZ","MPL","MPLKIP","MRAS","MRPL3","MT-CYB","MTFMT","MTX2","MYBPC3","MYCN","MYH3","MYH6","MYH7","MYL2","MYMK","MYOCD","MYPN","MYRF","NAA10","NAA20","NAE1","NCAPG2","NCF1","NDE1","NDUFB11","NDUFB7","NDUFC2","NEDD4L","NEK1","NEK9","NELFA","NEUROD2","NF1","NFE2L2","NFIX","NIPA1","NIPA2","NIPBL","NKAP","NKX2-1","NKX2-5","NKX2-6","NODAL","NONO","NOTCH1","NOTCH2","NOTCH3","NPHP3","NR2F2","NSD1","NSD2","NSDHL","NUP107","NUP188","NXN","OCLN","ODAD1","ODAD3","OTUD5","OTUD6B","PACS1","PACS2","PAH","PALB2","PAX3","PCGF2","PCNT","PDHA1","PDPN","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PGAP1","PGAP2","PGM1","PHGDH","PI4KA","PIEZO1","PIEZO2","PIGA","PIGF","PIGG","PIGL","PIGN","PIGO","PIGP","PIGQ","PIGT","PIK3CA","PIK3R2","PKD1L1","PKDCC","PLAGL1","PLCH1","PLD1","PLXND1","PNKP","POGZ","POLA1","POLR1A","POLR3A","POR","PORCN","PPFIBP1","PPM1D","PPP1CB","PPP1R21","PPP2CA","PPP2R5D","PQBP1","PRDM13","PRDM16","PRIM1","PRKACA","PRKACB","PRKCZ","PRKD1","PRR12","PRRX1","PSMC1","PSMD12","PTEN","PTF1A","PTPN11","PUF60","RAB23","RAC1","RAD21","RAD51","RAD51C","RAF1","RAI1","RARB","RBM10","RBM8A","RECQL4","RELN","RERE","RFC2","RFWD3","RFX7","RIPK4","RIT1","RMRP","RNF113A","RNU4ATAC","ROBO1","ROBO4","ROR2","RPL10","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL3L","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS7","RRAS2","RREB1","RSPO2","RSPRY1","RTL1","RYR1","SALL1","SALL4","SATB1","SATB2","SCN1B","SCN2A","SCUBE3","SDHD","SEC24C","SEC31A","SEMA3E","SETBP1","SETD1A","SETD2","SETD5","SF3B2","SF3B4","SH2B1","SH3PXD2B","SHANK3","SHMT2","SHOC2","SIAH1","SIK1","SIK3","SIX6","SKI","SKIC2","SKIC3","SLC12A2","SLC19A2","SLC25A22","SLC25A24","SLC25A36","SLC29A3","SLC32A1","SLC35A2","SLC37A4","SLC38A3","SLF2","SLX4","SMAD2","SMAD3","SMAD4","SMAD6","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SMC1A","SMC3","SMG8","SMG9","SMN1","SNRPB","SNRPN","SNX14","SON","SOS1","SOS2","SOX11","SOX2","SOX4","SPATA5","SPECC1L","SPEN","SPTBN1","SRCAP","STAG1","STAG2","STAMBP","STAT1","STK4","STRA6","STRADA","STX1A","SUCLG1","SUPT16H","SVBP","SYNE1","SYT1","SZT2","TAB2","TALDO1","TAOK1","TAPT1","TARS1","TASP1","TBC1D24","TBCK","TBL2","TBX1","TBX2","TBX20","TBX22","TBX3","TBX4","TBX5","TCIRG1","TCTN3","TET3","TFAP2B","TGDS","TGFB3","TGFBR1","TGFBR2","THOC6","THPO","THSD1","TIAM1","TKT","TLL1","TMCO1","TMEM147","TMEM237","TMEM260","TMEM270","TMEM53","TMEM94","TNFRSF11A","TNNT2","TOM1","TP63","TPR","TRAIP","TRIM8","TRIO","TRIP13","TRIP4","TRRAP","TSFM","TSR2","TTC26","TTC7A","TUBG1","TWIST1","TXNL4A","UBE2A","UBE2T","UBE3B","UBE4B","UBR1","UBR7","UFC1","UFD1","UMPS","UPF3B","UQCRC2","UQCRFS1","USP18","USP9X","VAC14","VEZF1","VIPAS39","VPS13B","VPS33A","VPS33B","VPS35L","VPS37D","WAC","WASHC5","WBP11","WDPCP","WDR26","WDR35","WDR37","WLS","WNT4","WT1","XRCC2","XYLT1","XYLT2","YARS1","YY1","YY1AP1","ZBTB7A","ZDHHC9","ZEB2","ZIC3","ZMPSTE24","ZMYM2","ZNF341","ZNF462","ZNF668","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_COMPLETE_ATRIOVENTRICULAR_CANAL_DEFECT":{"collection":"C5:HPO","systematicName":"M35390","pmid":"","exactSource":"HP:0001674","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001674","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_COMPLETE_ATRIOVENTRICULAR_CANAL_DEFECT","geneSymbols":["ACVR2B","CDC45","CIROP","GATA1","GATA6","GDF1","HYLS1","INTU","IRX5","NKX2-5","NKX2-6","PRKACA","PTPN11","PUF60","TBX1","TRIO","WDPCP","ZIC3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CORONARY_ARTERY_ATHEROSCLEROSIS":{"collection":"C5:HPO","systematicName":"M35391","pmid":"","exactSource":"HP:0001677","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001677","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CORONARY_ARTERY_ATHEROSCLEROSIS","geneSymbols":["ABCA1","ABCC6","ABCG5","ABCG8","ACTA2","APOA1","APOA2","APOB","APOE","BRCC3","CELA2A","CEP19","CYP27A1","CYP7A1","ELN","EPHX2","ERCC6","ERCC8","ESR1","FBN1","FOXE3","GHR","GPIHBP1","HEY2","LDLR","LDLRAP1","LIPC","LMNA","LOX","LRP6","MAT2A","MEF2A","MFAP5","MYH11","MYLK","PCSK9","PNPLA2","PPARG","PPP1R17","PRKG1","SERPIND1","SMAD2","SMAD3","SMAD4","SMPD1","TGFB2","TGFB3","TGFBR1","TGFBR2","THSD4","XYLT1","XYLT2","ZNF687"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_AORTIC_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M35392","pmid":"","exactSource":"HP:0001679","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001679","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_AORTIC_MORPHOLOGY","geneSymbols":["ABCC6","ABCD4","ABCG5","ABCG8","ABL1","ACTA2","ACVR2B","ADA2","ADAMTS19","ADAR","ADK","AEBP1","AFF4","ALDH18A1","ALDH1A2","ALG3","ALG5","ALG9","AMER1","ANGPTL6","APC2","APOB","APOE","ARF1","ARFGEF2","ARVCF","ATN1","ATP2B1","ATP6V1A","B3GALT6","B3GAT3","BAZ1B","BCL7B","BCOR","BCR","BGN","BICC1","BRAF","BRCA1","BRCA2","BRF1","BRIP1","BUB1","BUB1B","BUB3","BUD23","C12orf57","CARS1","CASZ1","CDH2","CDK8","CDON","CEP57","CFAP53","CHD4","CHD7","CHRNG","CHST3","CIROP","CLIP2","COL1A1","COL1A2","COL3A1","COL5A1","COL5A2","COMT","COX7B","CPLANE1","CREBBP","CRELD1","CRKL","CTCF","CYP7A1","DDX3X","DGCR2","DGCR6","DGCR8","DHCR7","DIS3L2","DISP1","DLK1","DLL1","DNAH1","DNAH9","DNAJB11","DNAJC30","DNMT3A","DOHH","DPH5","DYNC2LI1","EFEMP2","EGFR","EHMT1","EIF4H","ELN","EMILIN1","ENG","ENPP1","EP300","ERCC4","ERCC6","ERCC8","ERMARD","ESS2","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FBLN5","FBN1","FBN2","FGF8","FGFR1","FGFR2","FKBP14","FKBP6","FLI1","FLNA","FLNB","FLT4","FMR1","FOXE3","FOXF1","FOXH1","GABRD","GANAB","GAS1","GATA1","GATA4","GATA5","GATA6","GBA1","GDF1","GJA1","GJA5","GJA8","GLI2","GLI3","GNB2","GP1BB","GTF2I","GTF2IRD1","GTF2IRD2","HCCS","HDAC4","HEATR3","HEY2","HGD","HIRA","HLA-B","HLA-DRB1","HNRNPK","HRAS","HSPG2","IDS","IFIH1","IFNG","IFT140","IL12B","IPO8","JAG1","JMJD1C","KANSL1","KCNAB2","KCNH1","KCNQ2","KCNT1","KDM6A","KMT2D","KRAS","LARS2","LDLR","LDLRAP1","LIMK1","LMNA","LOX","LRPPRC","LSM11","LUZP1","LZTR1","MAD2L2","MAP1B","MAP2K1","MAP3K7","MAPK1","MAT2A","MCTP2","MED12","MEG3","MEIS2","METTL27","MFAP5","MID1","MKS1","MLX","MLXIPL","MMP14","MMP2","MMP21","MMP23B","MYCN","MYH11","MYH3","MYH7","MYLK","MYPN","MYRF","NAE1","NCF1","NDUFB11","NEDD4L","NEK9","NF1","NIPA1","NIPA2","NKAP","NKX2-5","NKX2-6","NOD2","NODAL","NOTCH1","NOTCH3","NPR3","NR2F2","NRAS","NSD1","NSMCE2","NXN","OSGEP","P4HA2","PAH","PALB2","PCSK9","PDPN","PGM1","PGM3","PIGA","PIGN","PIK3R2","PKD1","PKD1L1","PKD2","PLCB1","PLD1","PLOD1","PLXND1","PPP1CB","PPP2R1A","PRDM16","PRKCZ","PRKG1","PTCH1","PTEN","PTH1R","PTPN11","PTPN22","PUF60","RAD51","RAD51C","RAI1","RBM8A","RERE","RFC2","RFWD3","RIN2","RNASEH2A","RNASEH2B","RNASEH2C","RNU4ATAC","RNU7-1","ROBO4","ROR2","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS7","RREB1","RTL1","SAMHD1","SCN1A","SCN2A","SEC24C","SEMA3E","SETD2","SF3B2","SHH","SIX3","SKI","SLC12A5","SLC25A22","SLC25A24","SLC2A10","SLC34A2","SLX4","SMAD2","SMAD3","SMAD4","SMAD6","SMARCA2","SMG9","SOS2","SPECC1L","SPEN","SPTBN1","SRCAP","SRY","STAG2","STIL","STRA6","STX1A","SUCLG1","SUPT16H","TAB2","TALDO1","TBC1D24","TBL2","TBX1","TBX20","TBX5","TDGF1","TELO2","TGDS","TGFB2","TGFB3","TGFBR1","TGFBR2","TGFBR3","TGIF1","THSD1","THSD4","TMEM260","TMEM270","TMTC3","TNNT2","TPM2","TPM3","TRAF7","TREX1","TRIP13","TRRAP","TSC1","TSC2","TSR2","TTC26","TUBG1","UBE2T","UBE3B","UBE4B","UFD1","UNC45B","VPS37D","WAC","WDPCP","WDR26","WT1","XRCC2","YY1","ZEB2","ZIC2","ZIC3","ZMPSTE24","ZNF148"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_COARCTATION_OF_AORTA":{"collection":"C5:HPO","systematicName":"M35393","pmid":"","exactSource":"HP:0001680","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001680","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_COARCTATION_OF_AORTA","geneSymbols":["ABCD4","ABL1","ADA2","ADK","ALDH18A1","ALG3","AMER1","ATN1","BRAF","BUB1","BUB1B","BUB3","CDH2","CDK8","CDON","CEP57","CHD4","CIROP","CPLANE1","CREBBP","CTCF","DDX3X","DHCR7","DISP1","DLL1","DOHH","DYNC2LI1","EGFR","EHMT1","ELN","EP300","FANCB","FBLN5","FGF8","FGFR1","FLI1","FOXF1","FOXH1","GAS1","GATA1","GATA5","GATA6","GDF1","GJA5","GJA8","GLI2","GLI3","HEATR3","HRAS","JAG1","KDM6A","KMT2D","KRAS","LRPPRC","LZTR1","MAP2K1","MCTP2","MED12","MEIS2","MID1","MKS1","MMP14","MMP2","MYH7","NAE1","NF1","NIPA1","NIPA2","NKX2-5","NKX2-6","NODAL","NOTCH1","NR2F2","NRAS","OSGEP","PAH","PGM1","PPP1CB","PTCH1","PTH1R","PTPN11","PUF60","RBM8A","RNU4ATAC","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS7","SF3B2","SHH","SIX3","SMAD4","SMAD6","SMARCA2","SOS2","SRCAP","SRY","STAG2","STIL","STRA6","SUCLG1","SUPT16H","TALDO1","TBX1","TBX20","TDGF1","TELO2","TGDS","TGIF1","TRAF7","TRIP13","TRRAP","TSR2","TUBG1","UBE3B","UNC45B","WAC","WDPCP","WT1","ZEB2","ZIC2","ZIC3","ZNF148"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ANGINA_PECTORIS":{"collection":"C5:HPO","systematicName":"M35394","pmid":"","exactSource":"HP:0001681","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001681","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANGINA_PECTORIS","geneSymbols":["ABCA1","ABCC6","ABCG5","ABCG8","ACTC1","APOA1","APOB","APOE","ATP13A3","CTLA4","CYP27A1","ENPP1","GLA","HLA-DPA1","HLA-DPB1","IDUA","JAK2","JPH2","LCAT","LDLR","LDLRAP1","LIPC","LMNA","MPL","PCSK9","PMM2","PNPLA2","PRTN3","PTEN","PTPN22","TET2","TNNC1","TNNT2","TTR","XYLT1","XYLT2","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SUBVALVULAR_AORTIC_STENOSIS":{"collection":"C5:HPO","systematicName":"M35395","pmid":"","exactSource":"HP:0001682","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001682","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUBVALVULAR_AORTIC_STENOSIS","geneSymbols":["ADAMTS19","BUB1","BUB1B","BUB3","CAV3","CEP57","FGFR1","FOCAD","GNB2","HDAC4","IFIH1","MYH6","MYH7","MYLK2","NKX2-5","PIGL","PTPN11","SYT2","TAB2","TRIP13","WDPCP","ZIC3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SECUNDUM_ATRIAL_SEPTAL_DEFECT":{"collection":"C5:HPO","systematicName":"M35396","pmid":"","exactSource":"HP:0001684","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001684","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SECUNDUM_ATRIAL_SEPTAL_DEFECT","geneSymbols":["ACTC1","ADK","ATIC","ATP2B1","ATP9A","BUB1","CHD7","COG7","DOHH","G6PC3","GATA6","GDF1","GET3","H4C3","H4C9","HEATR3","IDH1","KAT6A","KDM5B","MEIS2","METTL5","MYH6","NAA10","NF1","NKX2-5","NR2F2","PGAP1","POLR3A","PRDM13","PRRX1","PTF1A","RPL11","SH3PXD2B","SHMT2","STK4","TBX5","TRIP4","TTC26","USP18","ZNF668"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MYOCARDIAL_FIBROSIS":{"collection":"C5:HPO","systematicName":"M35397","pmid":"","exactSource":"HP:0001685","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001685","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MYOCARDIAL_FIBROSIS","geneSymbols":["ACTC1","ALMS1","DOLK","FKTN","FLNC","JPH2","KIF20A","LAMP2","LMNA","MYH7","MYL2","MYPN","PPA2","RPL3L","SERPINE1","TNNI3","TNNT2","TRIM37"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LOSS_OF_VOICE":{"collection":"C5:HPO","systematicName":"M41241","pmid":"","exactSource":"HP:0001686","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001686","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOSS_OF_VOICE","geneSymbols":["ASAH1","FTL","SDHA","SDHAF2","SDHC","SDHD"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SINUS_BRADYCARDIA":{"collection":"C5:HPO","systematicName":"M35398","pmid":"","exactSource":"HP:0001688","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001688","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SINUS_BRADYCARDIA","geneSymbols":["AKAP9","ANK2","BVES","CACNA1C","CALM1","CALM2","CALM3","CAV3","GFM2","GNB2","HCN4","HEPHL1","KCNA5","KCNE1","KCNE2","KCNH2","KCNJ5","KCNQ1","LMNA","MYO1H","NOS1AP","PRKAG2","SCN10A","SCN4B","SCN5A","SNTA1","TBX5","TNNI3K","TNNT2","TRDN"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ATRIAL_ARRHYTHMIA":{"collection":"C5:HPO","systematicName":"M35399","pmid":"","exactSource":"HP:0001692","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001692","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ATRIAL_ARRHYTHMIA","geneSymbols":["ABCC9","ACTC1","ACTN2","ANK2","APRT","CACNA1C","CACNA2D1","CACNB2","CASQ2","CAVIN1","CITED2","CLIC2","CSRP3","DBH","DMPK","DTNA","EMD","FHOD3","FLNC","GATA4","GATA5","GATA6","GATAD1","GJA5","GNB2","HCN4","JPH2","KCNA5","KCNE1","KCNE2","KCNH2","KCNJ2","KCNJ3","KCNJ5","KCNK3","KCNQ1","KIF20A","LAMP2","LMNA","LMOD2","LRP12","MFAP5","MT-CYB","MYH6","MYH7","MYL4","MYOZ2","MYPN","NEXN","NKX2-5","NKX2-6","NODAL","NPPA","NUP155","PITX2","PLN","POLG","POLG2","PRKAG2","PSEN2","RRM2B","RYR2","SCN1B","SCN2B","SCN3B","SCN4B","SCN5A","SGO1","SLC25A4","SLC4A3","SMAD3","TAB2","TBX20","TBX5","TLL1","TMEM43","TNNC1","TNNI3","TNNI3K","TNNT2","TPM1","TRDN","TTN","TTR","TWNK","XK"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CARDIAC_SHUNT":{"collection":"C5:HPO","systematicName":"M41242","pmid":"","exactSource":"HP:0001693","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001693","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CARDIAC_SHUNT","geneSymbols":["ACTC1","ACVRL1","CITED2","ENG","FOXF1","GATA4","GATA6","MYH11","MYH6","NKX2-5","TBX20","THOC6","TLL1","TTC26"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CARDIAC_ARREST":{"collection":"C5:HPO","systematicName":"M35400","pmid":"","exactSource":"HP:0001695","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001695","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CARDIAC_ARREST","geneSymbols":["ABCA12","ABCA3","ABCC6","ABCC9","ABCG5","ABCG8","ACAD9","ACADVL","ACTC1","ACTN2","AGK","AKAP9","AKT1","ALG10B","ALPK3","ANK2","APOB","BAZ1B","BCL7B","BUD23","C1QBP","CACNA1C","CACNA2D1","CACNB2","CALM1","CALM2","CALM3","CASQ2","CAV3","CLCF1","CLIP2","CPT1A","CRLF1","CRLS1","CSRP3","DES","DNAJC19","DNAJC30","DPP6","DSC2","DSG2","DSP","DTNA","EIF4H","ELN","EMD","ENPP1","EYA4","FHL1","FHOD3","FKBP6","FLNC","GBA1","GNAI2","GNB2","GPD1L","GTF2I","GTF2IRD1","GTF2IRD2","HCN4","HLA-B","HLA-DRB1","HMGCL","IKZF1","IPO8","JUP","KCND3","KCNE1","KCNE2","KCNE3","KCNE5","KCNH2","KCNJ2","KCNJ5","KCNJ8","KCNQ1","KLHL24","LDB3","LDLR","LDLRAP1","LEMD2","LIMK1","LMNA","LRP6","METTL27","MLXIPL","MRPL12","MYBPC3","MYH7","MYL2","MYL3","MYOZ2","NCF1","NDUFA2","NDUFB11","NOS1AP","NUP155","P4HA2","PCSK9","PGM1","PKP2","PPA2","PRKAG2","PTEN","PTPN22","RAB3GAP2","RANGRF","RBM20","RFC2","RYR2","SCN10A","SCN1B","SCN2B","SCN3B","SCN4B","SCN5A","SCNN1A","SCO2","SEMA3A","SFTPB","SFTPC","SGCD","SLC19A2","SLC25A20","SLC2A10","SLC4A3","SLMAP","SNTA1","STX1A","SYNE1","SYNE2","TANGO2","TBL2","TBX5","TECRL","TGFB3","TGFBR1","TGFBR2","TMEM270","TMEM43","TNNC1","TNNI3","TNNI3K","TNNT2","TOR1A","TPM1","TRDN","TRPM4","TSPYL1","TTC26","TTN","VPS37D","WAS","WIPF1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_PERICARDIUM_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M35401","pmid":"","exactSource":"HP:0001697","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001697","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PERICARDIUM_MORPHOLOGY","geneSymbols":["ABCC6","ABCC9","ACADVL","ADAMTS3","AEBP1","ALG9","BLTP1","C4A","CALCRL","CCBE1","CCR1","CDH23","CLCNKB","CTLA4","DNASE1","DNASE1L3","DPH5","EIF2AK4","ENPP1","EPHB4","ERAP1","FAS","FAT4","FCGR2A","FCGR2B","GATA6","GBA1","HBA1","HBA2","HLA-B","HLA-DPA1","HLA-DPB1","HLA-DRB1","IFIH1","IFNGR1","IL10","IL12A","IL12A-AS1","IL23R","IL6","IRAK1","IRF4","ITK","KLRC4","LACC1","LCK","LETM1","LMNA","LYST","MAF","MCM10","MEFV","MIF","MTO1","MYBPC3","MYRF","NOD2","P4HA2","PLVAP","PMM2","PRG4","PRKAG2","PRTN3","PTPN14","PTPN22","RNU7-1","SAT1","SCARB2","SLC12A3","SMAD4","SPP1","STAT4","TCTN2","TLR4","TNFRSF1A","TREX1","TRIM37","TSC1","TSC2","UBAC2","UQCRFS1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PERICARDIAL_EFFUSION":{"collection":"C5:HPO","systematicName":"M35402","pmid":"","exactSource":"HP:0001698","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001698","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERICARDIAL_EFFUSION","geneSymbols":["ABCC6","ABCC9","ACADVL","ADAMTS3","AEBP1","ALG9","BLTP1","CALCRL","CCBE1","CDH23","CLCNKB","DNASE1L3","DPH5","EIF2AK4","ENPP1","EPHB4","FAT4","GBA1","HLA-DRB1","IFIH1","IRAK1","ITK","LETM1","LMNA","LYST","MAF","MCM10","MTO1","MYBPC3","MYRF","PLVAP","PMM2","PRKAG2","PTPN14","RNU7-1","SAT1","SCARB2","SLC12A3","SMAD4","SPP1","STAT4","TCTN2","TSC1","TSC2","UQCRFS1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SUDDEN_DEATH":{"collection":"C5:HPO","systematicName":"M35403","pmid":"","exactSource":"HP:0001699","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001699","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUDDEN_DEATH","geneSymbols":["ABCA12","ABCC6","ABCG5","ABCG8","ACAD9","ACADVL","AGK","AKAP9","AKT1","ALG10B","ANK2","APOB","BAZ1B","BCL7B","BUD23","CACNA1C","CACNA2D1","CALM1","CALM2","CALM3","CASQ2","CAV3","CLCF1","CLIP2","CPLX1","CPT1A","CRLF1","CSRP3","DES","DNAJC19","DNAJC30","DPP6","DSC2","DSG2","DSP","DTNA","EIF4H","ELN","EMD","ENPP1","EYA4","FHL1","FHOD3","FIG4","FKBP6","FLNC","GNAI2","GNB2","GPD1L","GTF2I","GTF2IRD1","GTF2IRD2","GUF1","HADHA","HCN4","HLA-B","HLA-DRB1","HRAS","IKZF1","JUP","KCNE1","KCNE2","KCNH2","KCNJ2","KCNJ5","KCNQ1","KLHL24","LDB3","LDLR","LDLRAP1","LEMD2","LIMK1","LMNA","LRP6","METTL27","MLXIPL","MYBPC3","MYH6","MYH7","MYL2","MYL3","MYLK","MYLK2","MYOZ2","NCF1","NOS1AP","NUP155","P4HA2","PCSK9","PGM1","PKP2","PPA2","PRKAG2","PTEN","PTPN22","RBM20","RFC2","RYR2","SCN10A","SCN1A","SCN4B","SCN5A","SCN8A","SGCD","SHQ1","SLC4A3","SMAD3","SNTA1","SOST","STX1A","SYNE1","SYNE2","TAB2","TBC1D24","TBL2","TBX5","TECRL","TGFB3","TMEM270","TMEM43","TNNC1","TNNI3","TNNT2","TPM1","TRDN","TSPYL1","TTN","UBR7","VPS37D","WAS","WIPF1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PERICARDITIS":{"collection":"C5:HPO","systematicName":"M43263","pmid":"","exactSource":"HP:0001701","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001701","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERICARDITIS","geneSymbols":["C4A","CCR1","CTLA4","DNASE1","ERAP1","FAS","FCGR2A","FCGR2B","HBA1","HBA2","HLA-B","HLA-DPA1","HLA-DPB1","HLA-DRB1","IFNGR1","IL10","IL12A","IL12A-AS1","IL23R","IL6","IRF4","KLRC4","LACC1","LCK","MAF","MEFV","MIF","NOD2","P4HA2","PMM2","PRG4","PRTN3","PTPN22","RNU7-1","STAT4","TLR4","TNFRSF1A","TREX1","UBAC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_TRICUSPID_VALVE_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M35404","pmid":"","exactSource":"HP:0001702","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001702","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_TRICUSPID_VALVE_MORPHOLOGY","geneSymbols":["AGGF1","ARVCF","CCDC22","CHD7","CHST14","COL1A1","COL5A1","COL5A2","COMT","COX7B","DPYSL5","FBN1","FGFR1","FLNA","FOXF1","FREM1","GATA1","GATA6","GP1BB","HCCS","HIRA","IDS","JMJD1C","JPH2","KRAS","MAP3K7","MMP21","MYCN","MYH7","MYRF","NDUFB11","NONO","NXN","PCGF2","PLD1","ROR2","RPS6KA3","RREB1","SEC24C","TBX1","TMEM260","TPM1","UFD1","VPS35L","WASHC5","YY1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_TRICUSPID_VALVE_PROLAPSE":{"collection":"C5:HPO","systematicName":"M35405","pmid":"","exactSource":"HP:0001704","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001704","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TRICUSPID_VALVE_PROLAPSE","geneSymbols":["CHST14","COL1A1","COL5A1","COL5A2","COX7B","FBN1","FGFR1","FLNA","HCCS","KRAS","NDUFB11","PCGF2","PLD1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ENDOCARDIAL_FIBROELASTOSIS":{"collection":"C5:HPO","systematicName":"M35406","pmid":"","exactSource":"HP:0001706","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001706","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ENDOCARDIAL_FIBROELASTOSIS","geneSymbols":["ACTN2","ALPK3","CSRP3","GJA5","IDUA","MCM10","SLC22A5","TAFAZZIN"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_RIGHT_VENTRICLE_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M35407","pmid":"","exactSource":"HP:0001707","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001707","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RIGHT_VENTRICLE_MORPHOLOGY","geneSymbols":["ACTA1","ACTC1","ALG9","ALPK3","ATP13A3","BMPR2","BTK","CDH2","CFTR","CITED2","COLQ","CTNNA3","DSC2","DSG2","DSP","DYSF","FCGR2A","FIBP","FLNA","FNIP1","FOXF1","GATA4","GATA6","GPC3","GPC4","GTPBP3","HACD1","IPO8","ITGA7","JUP","KMT2D","LAMB2","LTBP4","MAP3K20","MMP21","MYH6","MYH7","MYL2","NKX2-5","NKX2-6","NONO","NOTCH1","NPHP3","PIGN","PKP2","PLD1","PLXND1","SCN5A","SELENON","SFTPB","SGCG","SLC25A12","SREBF1","STAMBP","TBX20","TGFB1","TGFB3","TLL1","TMEM43","TPM2","TPM3","TRAPPC11","TTN","VIPAS39","VPS33B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_THIRD_DEGREE_ATRIOVENTRICULAR_BLOCK":{"collection":"C5:HPO","systematicName":"M35409","pmid":"","exactSource":"HP:0001709","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001709","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THIRD_DEGREE_ATRIOVENTRICULAR_BLOCK","geneSymbols":["DEF6","DES","GRIN1","LMNA","MT-ATP8","MT-TL1","MYL4","PRKG2","PTPN11","RRM2B","SCN5A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_LEFT_VENTRICLE_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M35410","pmid":"","exactSource":"HP:0001711","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001711","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LEFT_VENTRICLE_MORPHOLOGY","geneSymbols":["ABCA1","ABCC9","ACTC1","ACTN2","ADAM17","ADAMTS19","AIP","ALG9","ARL6","ARSK","ATP6AP2","B3GAT3","BBS1","BIN1","BUB1","BUB1B","BUB3","C1QBP","CACNA1D","CAV3","CCDC28B","CEP57","CHST3","CLN3","COG1","COL1A2","COQ7","COQ9","COX16","DMD","DTNA","EGFR","EPG5","ESPN","FGFR1","FHL1","FKRP","FLNC","FOCAD","FZR1","GAA","GATA5","GATA6","GLA","GLRX5","GNB2","GNPTAB","GTPBP3","GYS1","HADHA","HADHB","HCN4","HDAC4","HSD11B2","IFIH1","JPH2","KCNJ5","LDB3","LOX","LRPPRC","LZTR1","MEN1","MOGS","MT-CO1","MT-CO2","MT-CO3","MT-CYB","MT-ND1","MT-ND5","MT-ND6","MT-TC","MT-TF","MT-TK","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TV","MT-TW","MTX2","MYH6","MYH7","MYL2","MYL3","MYLK2","MYOZ2","MYPN","NAXD","NDUFS2","NEXN","NKX2-5","NONO","NOTCH1","NPPA","PIGL","PLN","POLG","POLG2","POMT1","POMT2","PSEN1","PSEN2","PTPN11","RIT1","RNU7-1","RRM2B","RYR1","SCN5A","SCO1","SDHA","SDHAF1","SDHB","SDHD","SLC25A24","SLC25A4","SMAD3","SMAD6","SPEG","SVIL","SYT2","TAB2","TCAP","TLL1","TNNI3","TNNT2","TPK1","TRIP13","TRMT10C","TTN","TTR","TWNK","WDPCP","WDR35","ZIC3","ZNF462","ZNF687"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LEFT_VENTRICULAR_HYPERTROPHY":{"collection":"C5:HPO","systematicName":"M35411","pmid":"","exactSource":"HP:0001712","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001712","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LEFT_VENTRICULAR_HYPERTROPHY","geneSymbols":["ABCA1","ABCC9","ACTC1","ACTN2","ADAM17","AIP","ARL6","ARSK","ATP6AP2","B3GAT3","BBS1","BIN1","C1QBP","CACNA1D","CCDC28B","CHST3","CLN3","COG1","COL1A2","COQ7","COQ9","COX16","DMD","DTNA","EGFR","EPG5","ESPN","FHL1","FKRP","FLNC","FZR1","GAA","GLA","GLRX5","GNPTAB","GTPBP3","GYS1","HADHA","HADHB","HCN4","HSD11B2","JPH2","KCNJ5","LDB3","LOX","LRPPRC","LZTR1","MEN1","MOGS","MT-CO1","MT-CO2","MT-CO3","MT-CYB","MT-ND1","MT-ND5","MT-ND6","MT-TC","MT-TF","MT-TK","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TV","MT-TW","MTX2","MYH6","MYL2","MYL3","MYOZ2","MYPN","NAXD","NDUFS2","NEXN","NKX2-5","NONO","NPPA","PLN","POLG","POLG2","POMT1","POMT2","PSEN1","PSEN2","RIT1","RNU7-1","RRM2B","RYR1","SCN5A","SCO1","SDHA","SDHAF1","SDHB","SDHD","SLC25A24","SLC25A4","SMAD3","SPEG","SVIL","TCAP","TLL1","TNNI3","TNNT2","TPK1","TRMT10C","TTN","TTR","TWNK","WDR35","ZNF462","ZNF687"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CARDIAC_VENTRICLE_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M35412","pmid":"","exactSource":"HP:0001713","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001713","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CARDIAC_VENTRICLE_MORPHOLOGY","geneSymbols":["AARS1","ABCA1","ABCC6","ABCC9","ABCG5","ABCG8","ABL1","ACADVL","ACTA1","ACTC1","ACTN2","ACVR2B","ADA2","ADAM17","ADAMTS10","ADAMTS19","AFF4","AGL","AIP","AKT3","ALDH18A1","ALDH1A2","ALG12","ALG8","ALG9","ALKBH8","ALPK3","AMER1","ANKRD11","APC2","APOB","ARCN1","ARHGAP31","ARID1A","ARID1B","ARID2","ARL6","ARSK","ARSL","ARVCF","ARX","ASXL1","ATN1","ATP13A3","ATP6AP2","ATP6V0A2","ATP6V1E1","ATRX","B3GALT6","B3GAT3","B3GLCT","BAP1","BAZ1B","BBS1","BCL7B","BCOR","BCR","BIN1","BMP2","BMPR1A","BMPR2","BRAF","BRD4","BRF1","BSCL2","BTK","BUB1","BUB1B","BUB3","BUD23","C1QBP","C2CD3","CACNA1C","CACNA1D","CALM3","CAMK2A","CANT1","CARS1","CASK","CAV3","CCBE1","CCDC174","CCDC22","CCDC28B","CCDC32","CCDC47","CCND2","CD96","CDC45","CDH2","CDK13","CDK8","CDKL5","CEP290","CEP57","CFTR","CHD3","CHD4","CHD7","CHMP1A","CHRM3","CHST3","CIROP","CITED2","CKAP2L","CLIP2","CLN3","COG1","COG6","COG7","COL1A2","COLQ","COMT","COQ4","COQ7","COQ9","COX16","COX6B1","COX7B","CPLX1","CPT2","CRB2","CREBBP","CRKL","CSGALNACT1","CSRP3","CTBP1","CTNNA3","CTU2","CUX1","CWC27","DDX11","DDX59","DEF6","DGCR2","DGCR6","DGCR8","DHCR7","DLK1","DLL4","DMD","DMXL2","DNAJC19","DNAJC30","DNMT3A","DOHH","DPF2","DPH1","DPH2","DPH5","DPYSL5","DSC2","DSG1","DSG2","DSP","DST","DTNA","DVL3","DYNC2I1","DYNC2LI1","DYRK1A","DYSF","ECE1","ECHS1","EFEMP2","EFTUD2","EGFR","EIF4H","ELN","ENPP1","EOGT","EP300","EPCAM","EPG5","ERBB3","ERCC2","ERCC3","ESCO2","ESPN","ESS2","EVC","EVC2","EXOC2","EXT2","FADD","FAN1","FANCB","FANCC","FANCI","FBLN5","FBN1","FBN2","FCGR2A","FGFR1","FGFR2","FGFRL1","FH","FHL1","FIBP","FIG4","FKBP6","FKRP","FLI1","FLNA","FLNB","FLNC","FNIP1","FOCAD","FOXC2","FOXF1","FRA10AC1","FTO","FZR1","GAA","GATA1","GATA4","GATA5","GATA6","GDF1","GDF3","GDF6","GET3","GJA1","GJA5","GJA8","GLA","GLI1","GLI3","GLRX5","GMPPB","GNAO1","GNB2","GNPTAB","GP1BB","GPC3","GPC4","GPC6","GPR101","GRIN1","GRM7","GTF2E2","GTF2H5","GTF2I","GTF2IRD1","GTF2IRD2","GTPBP3","GYG1","GYS1","HACD1","HADHA","HADHB","HCCS","HCN4","HDAC4","HDAC8","HEATR3","HIRA","HNRNPK","HNRNPR","HOXA13","HRAS","HSD11B2","HYLS1","HYMAI","IDH1","IFIH1","IFT172","IFT27","IFT81","IGBP1","IGF1R","INSR","IPO8","ITGA7","JAG1","JAM3","JMJD1C","JPH2","JUP","KANSL1","KAT5","KAT6A","KAT6B","KAT8","KCNA1","KCNJ5","KDM3B","KDM6A","KIFBP","KLHL41","KMT2D","KRAS","LAMB2","LARS2","LBR","LDB3","LDLR","LDLRAP1","LEMD2","LETM1","LIMK1","LMNA","LONP1","LOX","LRP2","LRP5","LRPPRC","LTBP1","LTBP2","LTBP4","LZTR1","MACF1","MAP2K1","MAP2K2","MAP3K20","MAP3K7","MAPK1","MAPKAPK5","MASP1","MED12","MED13L","MED23","MED25","MEG3","MEIS2","MEN1","MEOX1","METTL27","MGAT2","MGP","MICU1","MID1","MIR17HG","MKKS","MLH1","MLH3","MLXIPL","MMP14","MMP2","MMP21","MOGS","MPLKIP","MSH2","MSH6","MT-CO1","MT-CO2","MT-CO3","MT-CYB","MT-ND1","MT-ND5","MT-ND6","MT-TC","MT-TF","MT-TK","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TV","MT-TW","MTFMT","MTX2","MYBPC3","MYCN","MYH3","MYH6","MYH7","MYL2","MYL3","MYLK2","MYOCD","MYOZ2","MYPN","MYRF","NAA10","NAA20","NAE1","NAXD","NCF1","NDE1","NDUFA11","NDUFB11","NDUFB7","NDUFC2","NDUFS2","NEDD4L","NEK1","NEK9","NEUROD2","NEXN","NF1","NFIX","NHLRC2","NIPA1","NIPA2","NIPBL","NKAP","NKX2-1","NKX2-5","NKX2-6","NOD2","NODAL","NONO","NOTCH1","NOTCH2","NOTCH3","NPHP3","NPPA","NR2F2","NSD1","NSD2","NSDHL","NSMCE2","NUP107","NUP188","NXN","ODAD1","ODAD3","OTUD5","OTUD6B","PACS1","PACS2","PAH","PALB2","PCSK9","PDHA1","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PGM1","PHGDH","PI4KA","PIEZO2","PIGL","PIGN","PIGP","PIGQ","PIK3CA","PIK3R2","PKD1L1","PKP2","PLAGL1","PLCH1","PLD1","PLN","PLXND1","PMS1","PMS2","PNKP","POLA1","POLG","POLG2","POMT1","POMT2","PORCN","PPFIBP1","PPM1D","PPP1CB","PPP2CA","PPP2R5D","PQBP1","PRDM13","PRKACA","PRKACB","PRKAG2","PSEN1","PSEN2","PSMC1","PSMD12","PTPN11","PUF60","RAB23","RAC1","RAD21","RAI1","RARB","RBM8A","RERE","RFC2","RFX7","RIT1","RNF113A","RNU4ATAC","RNU7-1","ROR2","RPL10","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL3L","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS7","RRAS2","RREB1","RRM2B","RSPO2","RTL1","RYR1","SALL1","SALL4","SATB1","SATB2","SCN1B","SCN2A","SCN5A","SCO1","SDHA","SDHAF1","SDHB","SDHD","SEC24C","SEC31A","SELENON","SEMA4A","SETD2","SETD5","SF3B2","SF3B4","SFTPB","SGCD","SGCG","SH3PXD2B","SHANK3","SHOC2","SIK1","SIX3","SIX6","SKIC2","SKIC3","SLC12A2","SLC19A2","SLC25A12","SLC25A20","SLC25A22","SLC25A24","SLC25A4","SLC29A3","SLC2A10","SLC32A1","SLC37A4","SLF2","SMAD2","SMAD3","SMAD4","SMAD6","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SMC1A","SMC3","SMG8","SMG9","SMN1","SNRPB","SON","SOS1","SOS2","SOX11","SOX2","SOX4","SPECC1L","SPEG","SPEN","SPTBN1","SREBF1","STAG1","STAG2","STAMBP","STRA6","STX1A","SVBP","SVIL","SYNE1","SYT2","TAB2","TALDO1","TAOK1","TAPT1","TARS1","TASP1","TBC1D24","TBCK","TBL2","TBX1","TBX20","TBX3","TBX5","TCAP","TCIRG1","TCTN3","TET3","TFAP2B","TGDS","TGFB1","TGFB3","TGFBR2","THOC6","TIAM1","TKT","TLL1","TMEM237","TMEM260","TMEM270","TMEM43","TMEM53","TMEM94","TNFRSF11A","TNNC1","TNNI3","TNNT2","TP63","TPK1","TPM2","TPM3","TPR","TRAIP","TRAPPC11","TRIM8","TRIO","TRIP13","TRMT10C","TRRAP","TSR2","TTC26","TTC7A","TTN","TTR","TUBG1","TWNK","TXNDC15","TXNL4A","UBE2A","UBE3B","UBR1","UBR7","UFD1","UMPS","UQCRFS1","VAC14","VIPAS39","VPS13B","VPS33B","VPS35L","VPS37D","WAC","WASHC5","WBP11","WDPCP","WDR26","WDR35","WDR37","WNT4","WT1","XYLT1","XYLT2","YARS1","YY1AP1","ZBTB7A","ZEB2","ZIC3","ZMPSTE24","ZMYM2","ZNF462","ZNF687","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_VENTRICULAR_HYPERTROPHY":{"collection":"C5:HPO","systematicName":"M35413","pmid":"","exactSource":"HP:0001714","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001714","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VENTRICULAR_HYPERTROPHY","geneSymbols":["ABCA1","ABCC6","ABCC9","ACTC1","ACTN2","ADAM17","AGL","AIP","ALG12","ALPK3","ARL6","ARSK","ATP13A3","ATP6AP2","ATP6V1E1","B3GAT3","BBS1","BIN1","BMPR2","C1QBP","CACNA1D","CCDC28B","CHST3","CLN3","COG1","COL1A2","COLQ","COQ7","COQ9","COX16","COX6B1","COX7B","CPT2","DEF6","DMD","DTNA","DYSF","EGFR","ENPP1","EPG5","ESPN","FHL1","FKRP","FLNC","FOXF1","FZR1","GAA","GLA","GLRX5","GNPTAB","GPC3","GPC4","GPR101","GTPBP3","GYG1","GYS1","HADHA","HADHB","HCN4","HSD11B2","IPO8","JPH2","KCNJ5","KMT2D","LAMB2","LDB3","LMNA","LOX","LRPPRC","LTBP4","LZTR1","MEN1","MOGS","MT-CO1","MT-CO2","MT-CO3","MT-CYB","MT-ND1","MT-ND5","MT-ND6","MT-TC","MT-TF","MT-TK","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TV","MT-TW","MTX2","MYBPC3","MYH6","MYH7","MYL2","MYL3","MYOZ2","MYPN","MYRF","NAXD","NDUFA11","NDUFS2","NEXN","NHLRC2","NKX2-5","NKX2-6","NOD2","NONO","NOTCH1","NPHP3","NPPA","NSMCE2","PIGN","PLN","PLXND1","POLG","POLG2","POMT1","POMT2","PRKAG2","PSEN1","PSEN2","RIT1","RNU7-1","RPL5","RRM2B","RYR1","SCN5A","SCO1","SDHA","SDHAF1","SDHB","SDHD","SELENON","SFTPB","SGCD","SGCG","SLC25A12","SLC25A20","SLC25A24","SLC25A4","SLC2A10","SMAD2","SMAD3","SPEG","STAMBP","SVIL","TALDO1","TCAP","TLL1","TNNC1","TNNI3","TNNT2","TPK1","TRMT10C","TTN","TTR","TWNK","VIPAS39","VPS33B","WAC","WDR35","ZMPSTE24","ZNF462","ZNF687"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MITRAL_STENOSIS":{"collection":"C5:HPO","systematicName":"M35414","pmid":"","exactSource":"HP:0001718","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001718","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MITRAL_STENOSIS","geneSymbols":["ABCC6","ADAMTSL2","ARSB","CHST3","FBN1","GBA1","GJA1","HAAO","LMNA","LZTR1","MCTP2","NKX2-5","NOTCH1","NOTCH2","PLD1","SYT2","UBE2A","XYLT1","XYLT2","ZIC3","ZMPSTE24","ZNF148"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HIGH_OUTPUT_CONGESTIVE_HEART_FAILURE":{"collection":"C5:HPO","systematicName":"M41243","pmid":"","exactSource":"HP:0001722","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001722","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HIGH_OUTPUT_CONGESTIVE_HEART_FAILURE","geneSymbols":["CACNA1S","ENG","EPHB4","HBB","RASA1","RYR1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RESTRICTIVE_CARDIOMYOPATHY":{"collection":"C5:HPO","systematicName":"M35415","pmid":"","exactSource":"HP:0001723","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001723","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RESTRICTIVE_CARDIOMYOPATHY","geneSymbols":["ABCC6","ACTC1","ANK1","BAG3","CENPE","DES","ENPP1","EPB42","FLNA","KIF20A","MCM10","MYL2","MYL3","PDGFRA","PIGT","SLC4A1","SPTA1","SPTB","TNNI3","TNNT2","TTR","XYLT1","XYLT2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_THROMBOEMBOLIC_STROKE":{"collection":"C5:HPO","systematicName":"M47049","pmid":"","exactSource":"HP:0001727","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001727","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THROMBOEMBOLIC_STROKE","geneSymbols":["ABCC9","ADA2","GATA4","GATA5","GATA6","GJA5","KCNA5","KCNE1","KCNE2","KCNJ2","KCNJ3","KCNJ5","KCNQ1","MTHFR","MYL4","NKX2-5","NKX2-6","NPPA","NUP155","PITX2","SCN1B","SCN2B","SCN3B","SCN4B","SCN5A","TTN"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PROGRESSIVE_HEARING_IMPAIRMENT":{"collection":"C5:HPO","systematicName":"M35416","pmid":"","exactSource":"HP:0001730","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001730","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROGRESSIVE_HEARING_IMPAIRMENT","geneSymbols":["ACTG1","ALMS1","ARSG","ATP1A3","DIAPH1","DMXL2","FGF3","GATA3","GFER","GIPC1","GJB2","GJB6","GOSR2","GRXCR1","GSDME","IARS2","KMT2D","LARS2","LRP12","MCM2","MIR96","MPZ","MPZL2","MT-CO1","MT-CO2","MT-CO3","MT-CYB","MT-ND1","MT-ND5","MT-ND6","MT-TC","MT-TF","MT-TK","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TV","MT-TW","MYH14","MYO3A","MYO6","NDUFA1","NLRP3","NOTCH2NLC","OPA1","P2RX2","PEX11B","POLR3GL","POU3F4","RILPL1","SCD5","SERPINB6","SLC30A9","SP7","SYNE4","TBC1D24","TIMM8A","TPRN","TWNK","WFS1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_PANCREAS":{"collection":"C5:HPO","systematicName":"M35417","pmid":"","exactSource":"HP:0001732","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001732","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_PANCREAS","geneSymbols":["AAGAB","ABCB11","ABCB4","ABCC6","ABCC8","ACD","ACTG2","ACVR1B","AGPAT2","ALG5","ALG9","ALMS1","AP2S1","APC","APOC2","APOE","APPL1","ARX","ASXL1","ATP6AP1","ATP8B1","B9D1","B9D2","BAP1","BARD1","BCKDHA","BCKDHB","BICC1","BLK","BMPR1A","BRCA1","BRCA2","BRD4","BRIP1","BSCL2","C4A","CASR","CASZ1","CAV1","CBS","CC2D2A","CCDC47","CCND1","CCR1","CDC73","CDK4","CDKN1A","CDKN1B","CDKN1C","CDKN2A","CDKN2B","CDKN2C","CEACAM3","CEACAM6","CEL","CEP290","CFTR","CHEK2","CIDEC","CLCA4","CLCNKB","CNOT1","COL14A1","COX4I2","CP","CPA1","CSPP1","CTC1","CTLA4","CTNS","CTRC","CYBC1","DBT","DCTN4","DIS3L2","DKC1","DNAJB11","DNAJC21","DYNC2I1","DZIP1L","EDNRA","EFL1","EIF2AK3","ENPP1","EPCAM","ERAP1","EWSR1","FAH","FAN1","FANCD2","FAS","FCGR2A","FGFR2","FLI1","FLNB","FOCAD","FOXF1","G6PC1","GABRD","GANAB","GATA6","GCGR","GCK","GCLC","GK","GLIS3","GLUD1","GNA11","GNAS","GPC3","GPC4","GPIHBP1","GPR35","GSTM3","HAMP","HFE","HJV","HLA-B","HLA-DPA1","HLA-DPB1","HMGCL","HMOX1","HNF1A","HNF1B","HNF4A","HOXD13","HSPG2","IFNGR1","IFT140","IFT172","IGF2","IKZF1","IL10","IL12A","IL12A-AS1","IL23R","INS","INSR","JAG1","KCNAB2","KCNJ11","KCNN4","KCNQ1","KCNQ1OT1","KLF11","KLRC4","KRAS","LBR","LHX1","LMF1","LMNA","LPL","LRP5","LUZP1","MADD","MAFA","MC1R","MDM2","MEFV","MEN1","MGMT","MIF","MITF","MKS1","MLH1","MLH3","MMP23B","MMUT","MRE11","MSH2","MSH6","MST1","MT-CO1","MT-CO2","MT-CO3","MT-ND1","MT-ND4","MT-ND5","MT-ND6","MT-TF","MT-TH","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TW","MYC","MYCN","NADK2","NBN","NDUFS3","NEK1","NEUROD1","NFS1","NHP2","NOP10","NOTCH3","NPHP3","NPM1","NR1H4","NSD2","NSMCE2","NTHL1","NUTM1","OFD1","PALB2","PALLD","PARN","PAX4","PCCA","PCCB","PDE11A","PDGFRB","PDPN","PDX1","PIK3CA","PKD1","PKD2","PKHD1","PMS1","PMS2","PNPLA2","POT1","PPARG","PRDM16","PRIM1","PRKAR1A","PRKCSH","PRKCZ","PRSS1","PRSS2","PRTN3","PTEN","PTF1A","PTPN22","PTRH2","PUF60","RABL3","RAD50","RAD51","RAD51C","RAD51D","RARB","RBM8A","RECQL4","RERE","RFX6","RMRP","RNF43","RNU7-1","RPGRIP1","RPGRIP1L","RPS20","RTEL1","SBDS","SCNN1A","SCNN1B","SEC63","SEMA4A","SEMA4D","SERPINA1","SETBP1","SIK3","SKI","SKIC3","SLC11A1","SLC12A3","SLC16A1","SLC25A13","SLC26A9","SLC29A3","SLC37A4","SLC6A14","SLC7A7","SLC9A3","SMAD4","SMARCAL1","SPEN","SPINK1","SRP54","STAT3","STAT4","STK11","STRA6","STUB1","STX1A","TCF4","TCTN1","TCTN2","TCTN3","TELO2","TERC","TERF2IP","TERT","TF","TGFB1","TGFBR2","TINF2","TKFC","TLR4","TMEM107","TMEM216","TMEM231","TMEM237","TMEM67","TP53","TRMT5","TXNDC15","TYMS","UBAC2","UBE4B","UBR1","UCP2","UQCRH","USB1","VHL","WDR19","WNT7B","WRAP53","WT1","XPNPEP3","YARS1","YY1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PANCREATITIS":{"collection":"C5:HPO","systematicName":"M35418","pmid":"","exactSource":"HP:0001733","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001733","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PANCREATITIS","geneSymbols":["ABCB4","ACTG2","AGPAT2","ALMS1","AP2S1","APOC2","APOE","ATP8B1","BCKDHA","BCKDHB","BSCL2","C4A","CASR","CAV1","CBS","CCDC47","CCR1","CDC73","CFTR","CIDEC","CPA1","CTLA4","CTRC","CYBC1","DBT","ERAP1","FAS","FCGR2A","FLI1","G6PC1","GCGR","GK","GNA11","GNAS","GPIHBP1","GPR35","HLA-B","HLA-DPA1","HLA-DPB1","HMGCL","IFNGR1","IFT172","IKZF1","IL10","IL12A","IL12A-AS1","IL23R","KLRC4","LMF1","LMNA","LPL","MEFV","MMUT","MST1","MT-CO1","MT-CO2","MT-CO3","MT-ND1","MT-ND4","MT-ND5","MT-ND6","MT-TF","MT-TH","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TW","NADK2","NDUFS3","NFS1","NSMCE2","PCCA","PCCB","PDE11A","PNPLA2","PPARG","PRSS1","PRSS2","PRTN3","PTPN22","RNU7-1","SEMA4D","SLC25A13","SLC37A4","SLC7A7","SMARCAL1","SPINK1","STAT4","STUB1","TCF4","TGFB1","TKFC","TLR4","UBAC2","UQCRH","XPNPEP3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ANNULAR_PANCREAS":{"collection":"C5:HPO","systematicName":"M35419","pmid":"","exactSource":"HP:0001734","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001734","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANNULAR_PANCREAS","geneSymbols":["ASXL1","CASZ1","FANCD2","FLI1","FOXF1","GABRD","HSPG2","KCNAB2","LUZP1","MMP23B","MYCN","PDPN","PRDM16","PRKCZ","RARB","RECQL4","RERE","RFX6","SETBP1","SIK3","SKI","SPEN","STRA6","TELO2","UBE4B","WNT7B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ACUTE_PANCREATITIS":{"collection":"C5:HPO","systematicName":"M35420","pmid":"","exactSource":"HP:0001735","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001735","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACUTE_PANCREATITIS","geneSymbols":["AGPAT2","APOE","BSCL2","CYBC1","HMGCL","LMNA","NSMCE2","RNU7-1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PANCREATIC_CYSTS":{"collection":"C5:HPO","systematicName":"M35421","pmid":"","exactSource":"HP:0001737","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001737","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PANCREATIC_CYSTS","geneSymbols":["ALG5","ALG9","B9D1","B9D2","BICC1","CC2D2A","CCND1","CEP290","CSPP1","DNAJB11","DZIP1L","GANAB","GLIS3","IFT140","MKS1","NPHP3","OFD1","PKD1","PKD2","PKHD1","RBM8A","RPGRIP1","RPGRIP1L","TCTN1","TCTN2","TCTN3","TMEM107","TMEM216","TMEM231","TMEM237","TMEM67","TXNDC15","VHL","WDR19","XPNPEP3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_NASOPHARYNX_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M47050","pmid":"","exactSource":"HP:0001739","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001739","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_NASOPHARYNX_MORPHOLOGY","geneSymbols":["ACP5","ADA","ADA2","ADNP","AICDA","ALG12","ALMS1","ARHGEF1","ARID1A","ARID1B","ARID2","ARSB","ASAH1","ATM","BLM","BTK","C4B","CARMIL2","CCDC65","CD19","CD4","CD79A","CD79B","CD81","CFAP298","CFAP74","CFI","CIITA","COG4","COL5A1","COL5A2","CORO1A","CR2","CREBBP","CTLA4","CXCR4","DCLRE1C","DNAAF1","DNAAF11","DNAAF2","DNAAF4","DNAAF5","DNAAF6","DNAH5","DNAI1","DNAI2","DNAJB13","DOCK8","DPF2","DPP9","DYM","EGFR","EP300","FCGR3A","FCHO1","FOXJ1","FOXN1","FOXP1","G6PC3","GALNS","GAS2L2","GAS8","GJA1","GLB1","GLI3","GNPTAB","GNS","GUSB","HCK","HGSNAT","HLA-B","HLA-DRB1","HPS6","HYDIN","HYOU1","ICOS","IDS","IFIH1","IGHG2","IGHM","IGKC","IKBKB","IKBKG","IL10RB","IL17RA","IL21R","IL2RG","IL6R","IL6ST","IL7R","IRF2BP2","IVNS1ABP","JAK3","KATNIP","KDM5C","KRT5","LCK","LEP","LEPR","LRBA","MAGT1","MBTPS2","MCIDAS","MDFIC","MDM4","MGAT2","MGP","MID1","MS4A1","MST1R","MYSM1","NAGLU","NBN","NCF4","NEK10","NFIX","NFKB1","NFKB2","NFKBIA","NME5","NME8","ODAD1","ODAD2","OFD1","P4HA2","PDE11A","PHIP","PIK3CD","PIK3R1","PLG","PLVAP","PNP","POLE","PRKAR1A","PRKCD","PRPS1","PSMB8","PTEN","PTPN22","RAC2","RAG1","RAG2","RELB","RFX5","RFX7","RFXANK","RFXAP","RNF168","RPGR","RSPH1","RSPH4A","RSPRY1","SALL4","SASH3","SCNN1A","SCNN1B","SCNN1G","SETBP1","SGSH","SH2D1A","SH3KBP1","SHH","SLC29A3","SLC37A4","SMARCA2","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SOX11","SOX4","SOX9","SPAG1","SPI1","STAT1","STAT3","STK11","STK36","STK4","STX3","STXBP2","TAFAZZIN","TAP1","TAP2","TAPBP","TBC1D24","TBX1","TMCO1","TNFRSF13B","TNFRSF13C","TNFRSF1A","TNFRSF9","TNFSF12","TOM1","TP53","TP63","UNC119","UNG","UQCRH","USB1","USP26","USP9X","WAS","XIAP","ZAP70","ZBTB24","ZBTB7A","ZMYND10","ZNF341"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PHIMOSIS":{"collection":"C5:HPO","systematicName":"M35423","pmid":"","exactSource":"HP:0001741","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001741","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PHIMOSIS","geneSymbols":["APC2","CENPT","CTCF","DKC1","ERMARD","FERMT1","NSD1","PQBP1","SETD2","SIN3A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NASAL_CONGESTION":{"collection":"C5:HPO","systematicName":"M35424","pmid":"","exactSource":"HP:0001742","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001742","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NASAL_CONGESTION","geneSymbols":["ANKH","ARL2BP","ARSL","CARMIL2","CCDC103","CCDC39","CCDC40","CCDC65","CCNO","CFAP221","CFAP298","CFAP300","CFAP74","CPT2","DBH","DDC","DNAAF1","DNAAF11","DNAAF2","DNAAF3","DNAAF4","DNAAF5","DNAAF6","DNAH1","DNAH11","DNAH5","DNAH9","DNAI1","DNAI2","DNAJB13","DNAL1","DRC1","FGFR1","FOXJ1","GAS2L2","GAS8","GJA1","GNAS","HYDIN","LRRC56","MCIDAS","NEK10","NME5","NME8","ODAD1","ODAD2","ODAD3","ODAD4","OFD1","PIK3CG","RPGR","RSPH1","RSPH3","RSPH4A","RSPH9","SPAG1","SPEF2","STK36","TTC12","ZMYND10"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_SPLEEN":{"collection":"C5:HPO","systematicName":"M35425","pmid":"","exactSource":"HP:0001743","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001743","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_SPLEEN","geneSymbols":["ABCA1","ABCA12","ABCB11","ABCB4","ABCD3","ABCG8","ABL1","ACVR2B","ADA","ADA2","ADAMTS3","ADAR","AFF4","AGA","AGPAT2","AIRE","AKR1D1","AKT1","ALAS2","ALDOA","ALG1","ALG9","ALMS1","ALPK1","ANK1","ANKRD55","AP3B1","AP3D1","APOA1","APOC2","APOE","ARSB","ARVCF","ASAH1","ASXL1","ATM","ATP6AP1","ATP6V1B2","ATP7B","ATP8B1","ATRX","B2M","B4GALT1","B9D1","B9D2","BACH2","BCL11A","BCL2","BCL6","BCR","BMP2","BMP6","BPGM","BRAF","BRCA1","BRCA2","BSCL2","BTD","BTNL2","C4A","CA2","CALR","CARD11","CASK","CASP10","CASP8","CASR","CASZ1","CAV1","CAVIN1","CBL","CC2D2A","CCBE1","CCDC103","CCDC115","CCDC32","CCDC39","CCDC40","CCDC47","CCDC65","CCND1","CCNO","CCR1","CD19","CD247","CD27","CD28","CD3D","CD3E","CD40LG","CD70","CD81","CDAN1","CDIN1","CDKN2A","CDON","CENPF","CEP290","CFAP221","CFAP298","CFAP300","CFAP410","CFAP45","CFAP74","CFC1","CFTR","CHD7","CLCN7","CLDN1","CLPB","COG1","COG4","COG5","COG6","COG7","COMT","COX10","COX4I2","CPLX1","CPOX","CR2","CREBBP","CSF3R","CSPP1","CTBP1","CTC1","CTLA4","CTNS","CTSA","CTSK","CYBA","CYBB","CYBC1","CYP7B1","DCDC2","DCLRE1C","DDRGK1","DGUOK","DHCR24","DHCR7","DKC1","DLK1","DLL4","DNAAF1","DNAAF11","DNAAF2","DNAAF3","DNAAF4","DNAAF5","DNAAF6","DNAH1","DNAH11","DNAH5","DNAH9","DNAI1","DNAI2","DNAJB13","DNAL1","DNASE1L3","DNASE2","DPM1","DRC1","DYNC2LI1","DZIP1L","EP300","EPB41","EPB42","EPOR","ERAP1","ERBB3","ERCC6","ERCC8","ESCO2","EXOC2","F5","FAH","FAM111A","FARSA","FAS","FASLG","FAT4","FCGR2A","FCHO1","FERMT3","FGA","FGB","FGFR2","FGFRL1","FGG","FMO3","FOCAD","FOXF1","FOXJ1","FOXP3","FUCA1","G6PC3","G6PD","GAA","GABRD","GALE","GALK1","GAS2L2","GAS8","GATA1","GATA2","GBA1","GBE1","GCLC","GDF1","GEMIN4","GIMAP5","GLB1","GLIS3","GLRX5","GNB2","GNE","GNPTAB","GNS","GP1BA","GP1BB","GPC3","GPC4","GPD1","GPI","GPIHBP1","GPR35","GSN","GUSB","GYPC","HAMP","HAVCR2","HBA1","HBA2","HBB","HBG1","HBG2","HCK","HEXB","HFE","HGSNAT","HIRA","HJV","HK1","HLA-B","HLA-DRB1","HMGA2","HMOX1","HPGD","HSD17B4","HSD3B7","HSPG2","HYDIN","HYLS1","IARS1","ICOS","IDS","IDUA","IFIH1","IFNG","IFNGR1","IFT140","IFT172","IKBKG","IKZF3","IL10","IL12A","IL12A-AS1","IL1RN","IL23R","IL2RA","IL2RB","IL2RG","IL6","IL6ST","IL7R","INPP5E","INPPL1","IRF2BP2","IRF4","IRF8","ITCH","ITK","JAK1","JAK2","JAK3","JMJD1C","KATNB1","KCNAB2","KCNH1","KCNMA1","KCNN3","KCNN4","KIF3B","KIT","KLF1","KLRC4","KPTN","KRAS","LACC1","LAT","LBR","LCAT","LEMD3","LETM1","LIG4","LIPA","LMNA","LPIN2","LPL","LRBA","LRRC56","LSM11","LTBP4","LUZP1","LYST","LYZ","LZTR1","MAGT1","MAN2B1","MCIDAS","MCM10","MCM4","MECOM","MED12","MEFV","MEG3","MEGF8","MICU1","MIF","MKS1","MMP21","MMP23B","MMUT","MNS1","MOGS","MPIG6B","MPL","MRAS","MS4A1","MST1","MVK","MYC","MYCN","MYD88","MYO5B","MYRF","NAE1","NAGLU","NBEAL2","NCF1","NCF2","NCF4","NCKAP1L","NDE1","NDUFS4","NEK10","NEK8","NEU1","NFKB1","NFKB2","NFKBIA","NGLY1","NHLRC2","NHP2","NLRC4","NLRP1","NLRP12","NLRP3","NME5","NME8","NOD2","NODAL","NOP10","NOTCH1","NOTCH2","NPC1","NPC2","NPHP3","NPM1","NRAS","NSD2","OAS1","OCLN","ODAD1","ODAD2","ODAD3","ODAD4","OFD1","ORAI1","OSTM1","OTC","PALB2","PALLD","PARN","PDGFRA","PDPN","PEPD","PEX13","PEX2","PEX7","PHKA2","PHKB","PHKG2","PHYH","PIBF1","PIEZO1","PIGA","PIGM","PIK3C2A","PIK3CA","PIK3CD","PIK3CG","PIK3R1","PKHD1","PKLR","PLEKHM1","PNP","PNPLA2","PPARG","PPP2R3C","PRDM16","PRF1","PRIM1","PRKCD","PRKCZ","PSAP","PSMB10","PSMB4","PSMB8","PSMB9","PSMG2","PSTPIP1","PTEN","PTPN11","PTPN2","PTPN22","PTPRC","RAB23","RAB27A","RABL3","RAC2","RAF1","RAG1","RAG2","RARB","RASA2","RASGRP1","RBCK1","RBM8A","RELN","RERE","RFWD3","RHAG","RHCE","RHD","RINT1","RIPK1","RIT1","RMRP","RNASEH2A","RNASEH2B","RNASEH2C","RNU4ATAC","RNU7-1","RORC","RPGR","RPGRIP1","RPGRIP1L","RPSA","RRAS","RRAS2","RREB1","RSPH1","RSPH3","RSPH4A","RSPH9","RTEL1","RTL1","RUNX1","SAMD9","SAMD9L","SAMHD1","SC5D","SCARB2","SCYL1","SEC23B","SEC24C","SEMA4D","SERPINA1","SETBP1","SF3B1","SGSH","SH2B3","SH2D1A","SKI","SKIC2","SKIC3","SLC17A5","SLC25A13","SLC29A3","SLC2A1","SLC30A10","SLC37A4","SLC39A4","SLC4A1","SLC7A7","SLCO2A1","SMAD2","SMAD4","SMPD1","SNX10","SNX14","SOCS1","SOS1","SOS2","SOX10","SP110","SPAG1","SPEF2","SPEN","SPRED2","SPTA1","SPTB","SRSF2","STAT1","STAT3","STAT4","STEAP3","STIM1","STK36","STRA6","STX11","STXBP2","SUMF1","SYK","TALDO1","TBX1","TBXAS1","TCF3","TCF4","TCIRG1","TCTN1","TCTN2","TCTN3","TERC","TERT","TET2","TFE3","TGFB1","THPO","TINF2","TLR4","TLR8","TMEM107","TMEM216","TMEM231","TMEM237","TMEM67","TNFRSF11A","TNFRSF13B","TNFRSF13C","TNFRSF1A","TNFRSF1B","TNFRSF4","TNFRSF9","TNFSF11","TNFSF12","TOM1","TP53","TPI1","TPP2","TRAC","TREX1","TRNT1","TRPV6","TTC12","TTC26","TULP3","TWIST1","TXNDC15","TYMS","UBAC2","UBE4B","UBR1","UFD1","UMPS","UNC13D","UROD","UROS","USB1","USP53","VPS11","VPS13A","VPS33A","VPS33B","VPS45","WDR1","WDR35","WNT3","WNT7B","WRAP53","WT1","XIAP","XK","YARS1","YME1L1","ZAP70","ZEB2","ZFYVE19","ZIC3","ZMYND10","ZNF699","ZNFX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SPLENOMEGALY":{"collection":"C5:HPO","systematicName":"M35426","pmid":"","exactSource":"HP:0001744","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001744","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPLENOMEGALY","geneSymbols":["ABCA1","ABCA12","ABCB11","ABCB4","ABCD3","ABCG8","ABL1","ADA","ADA2","ADAMTS3","ADAR","AFF4","AGA","AGPAT2","AKR1D1","AKT1","ALAS2","ALDOA","ALG1","ALG9","ALMS1","ALPK1","ANK1","ANKRD55","AP3B1","AP3D1","APOA1","APOC2","APOE","ARSB","ARVCF","ASAH1","ASXL1","ATM","ATP6AP1","ATP6V1B2","ATP7B","ATP8B1","ATRX","B2M","B4GALT1","BACH2","BCL11A","BCL2","BCL6","BCR","BMP2","BMP6","BPGM","BRAF","BRCA1","BRCA2","BSCL2","BTD","BTNL2","C4A","CA2","CALR","CARD11","CASK","CASP10","CASP8","CASR","CAV1","CAVIN1","CBL","CC2D2A","CCBE1","CCDC115","CCDC47","CCND1","CCR1","CD19","CD247","CD27","CD28","CD3D","CD3E","CD40LG","CD70","CD81","CDAN1","CDIN1","CDKN2A","CFAP410","CFTR","CHD7","CLCN7","CLDN1","CLPB","COG1","COG4","COG5","COG6","COG7","COMT","COX10","COX4I2","CPOX","CR2","CSF3R","CSPP1","CTC1","CTLA4","CTNS","CTSA","CTSK","CYBA","CYBB","CYBC1","CYP7B1","DCDC2","DCLRE1C","DDRGK1","DGUOK","DHCR24","DHCR7","DKC1","DLK1","DLL4","DNASE1L3","DNASE2","DPM1","DYNC2LI1","DZIP1L","EPB41","EPB42","EPOR","ERAP1","ERBB3","ERCC6","ERCC8","F5","FAH","FARSA","FAS","FASLG","FAT4","FCGR2A","FCHO1","FERMT3","FGA","FGFR2","FMO3","FOCAD","FOXP3","FUCA1","G6PC3","G6PD","GAA","GALE","GALK1","GATA1","GATA2","GBA1","GBE1","GCLC","GEMIN4","GIMAP5","GLB1","GLIS3","GLRX5","GNB2","GNE","GNPTAB","GNS","GP1BA","GP1BB","GPC3","GPC4","GPD1","GPI","GPIHBP1","GPR35","GUSB","GYPC","HAMP","HAVCR2","HBA1","HBA2","HBB","HBG1","HBG2","HCK","HEXB","HFE","HGSNAT","HIRA","HJV","HK1","HLA-B","HLA-DRB1","HPGD","HSD17B4","HSD3B7","IARS1","ICOS","IDS","IDUA","IFIH1","IFNG","IFNGR1","IFT140","IFT172","IKBKG","IKZF3","IL10","IL12A","IL12A-AS1","IL1RN","IL23R","IL2RA","IL2RB","IL2RG","IL6","IL6ST","IL7R","INPP5E","INPPL1","IRF2BP2","IRF4","IRF8","ITCH","ITK","JAK1","JAK2","JAK3","JMJD1C","KCNH1","KCNMA1","KCNN3","KCNN4","KIF3B","KIT","KLF1","KLRC4","KPTN","KRAS","LACC1","LAT","LBR","LCAT","LIG4","LIPA","LMNA","LPIN2","LPL","LRBA","LSM11","LYST","LYZ","MAGT1","MAN2B1","MCM4","MECOM","MED12","MEFV","MEG3","MICU1","MIF","MKS1","MMUT","MOGS","MPIG6B","MPL","MS4A1","MST1","MVK","MYD88","MYO5B","NAE1","NAGLU","NBEAL2","NCF1","NCF2","NCF4","NCKAP1L","NDUFS4","NEU1","NFKB1","NFKB2","NFKBIA","NGLY1","NHLRC2","NHP2","NLRC4","NLRP1","NLRP12","NLRP3","NOD2","NOP10","NOTCH1","NOTCH2","NPC1","NPC2","NPHP3","NPM1","NRAS","OAS1","OCLN","OSTM1","OTC","PALB2","PALLD","PARN","PDGFRA","PEPD","PEX13","PEX2","PEX7","PHKA2","PHKB","PHKG2","PHYH","PIBF1","PIEZO1","PIGA","PIGM","PIK3C2A","PIK3CA","PIK3CD","PIK3CG","PIK3R1","PKHD1","PKLR","PLEKHM1","PNP","PNPLA2","PPARG","PRF1","PRKCD","PSAP","PSMB10","PSMB4","PSMB8","PSMB9","PSMG2","PSTPIP1","PTEN","PTPN2","PTPN22","PTPRC","RAB27A","RABL3","RAC2","RAG1","RAG2","RASGRP1","RBCK1","RBM8A","RHAG","RHCE","RHD","RINT1","RIPK1","RMRP","RNASEH2A","RNASEH2B","RNASEH2C","RNU4ATAC","RNU7-1","RORC","RPGRIP1L","RREB1","RTEL1","RTL1","RUNX1","SAMD9L","SAMHD1","SC5D","SCARB2","SCYL1","SEC23B","SEC24C","SEMA4D","SERPINA1","SF3B1","SGSH","SH2B3","SH2D1A","SKIC2","SKIC3","SLC17A5","SLC25A13","SLC29A3","SLC2A1","SLC30A10","SLC37A4","SLC39A4","SLC4A1","SLC7A7","SLCO2A1","SMAD4","SMPD1","SNX10","SNX14","SOCS1","SOX10","SP110","SPTA1","SPTB","SRSF2","STAT1","STAT3","STAT4","STEAP3","STX11","STXBP2","SUMF1","SYK","TALDO1","TBX1","TBXAS1","TCF3","TCF4","TCIRG1","TERC","TERT","TET2","TFE3","TGFB1","THPO","TINF2","TLR4","TLR8","TMEM67","TNFRSF11A","TNFRSF13B","TNFRSF13C","TNFRSF1A","TNFRSF1B","TNFRSF4","TNFRSF9","TNFSF11","TNFSF12","TOM1","TP53","TPI1","TPP2","TRAC","TREX1","TRNT1","TRPV6","TTC26","TULP3","TYMS","UBAC2","UBR1","UFD1","UMPS","UNC13D","UROD","UROS","USB1","USP53","VPS11","VPS13A","VPS33A","VPS33B","VPS45","WDR1","WDR35","WRAP53","XIAP","XK","YARS1","YME1L1","ZAP70","ZFYVE19","ZNF699","ZNFX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ACCESSORY_SPLEEN":{"collection":"C5:HPO","systematicName":"M35427","pmid":"","exactSource":"HP:0001747","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001747","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACCESSORY_SPLEEN","geneSymbols":["ATP6AP1","B9D1","B9D2","CC2D2A","CENPF","CEP290","CPLX1","CREBBP","CSPP1","CTBP1","EP300","ESCO2","EXOC2","FGFRL1","HYLS1","LETM1","LTBP4","MKS1","MYCN","MYRF","NSD2","PPP2R3C","PRIM1","RPGRIP1","RPGRIP1L","TCTN1","TCTN2","TCTN3","TMEM107","TMEM216","TMEM231","TMEM237","TMEM67","TXNDC15","WT1","YARS1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_POLYSPLENIA":{"collection":"C5:HPO","systematicName":"M35428","pmid":"","exactSource":"HP:0001748","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001748","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POLYSPLENIA","geneSymbols":["ACVR2B","CCDC103","CCDC39","CCDC40","CCDC65","CCNO","CDON","CFAP221","CFAP298","CFAP300","CFAP45","CFAP74","CFC1","DNAAF1","DNAAF11","DNAAF2","DNAAF3","DNAAF4","DNAAF5","DNAAF6","DNAH1","DNAH11","DNAH5","DNAH9","DNAI1","DNAI2","DNAJB13","DNAL1","DRC1","FOXJ1","GAS2L2","GAS8","GDF1","GPC3","GPC4","HYDIN","LRRC56","MCIDAS","MEGF8","MMP21","MYCN","NEK10","NME5","NME8","NPHP3","ODAD1","ODAD2","ODAD3","ODAD4","OFD1","RAB23","RFWD3","RPGR","RSPH1","RSPH3","RSPH4A","RSPH9","SPAG1","SPEF2","STK36","TTC12","WDR35","YARS1","ZIC3","ZMYND10"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SINGLE_VENTRICLE":{"collection":"C5:HPO","systematicName":"M35429","pmid":"","exactSource":"HP:0001750","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001750","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SINGLE_VENTRICLE","geneSymbols":["CIROP","GDF1","MAPKAPK5","NODAL","NSDHL","PLD1","PLXND1","SIX3","STRA6","TXNDC15","ZIC3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_VESTIBULAR_FUNCTION":{"collection":"C5:HPO","systematicName":"M35430","pmid":"","exactSource":"HP:0001751","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001751","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_VESTIBULAR_FUNCTION","geneSymbols":["ABCC9","ADA2","AIFM1","AIP","ALMS1","ARSG","ATP1A2","ATP2B2","ATXN3","BCOR","BRAF","C4A","CACNA1A","CACNA1G","CACNB4","CALM1","CALM2","CALM3","CASQ2","CATSPER2","CCDC50","CCND1","CCR1","CD164","CDH23","CEACAM16","CEP78","CIB2","CLCNKB","CLIC5","CLRN1","CLRN2","CNNM2","COCH","COL3A1","CRYM","CTNNB1","DBH","DKK1","DLST","DMXL2","DNMT3A","ELMOD3","EPAS1","EPOR","ERAP1","ESPN","ESRP1","FAS","FGF14","FH","FIP1L1","FLI1","FOXI1","FXN","GATA2","GATA4","GATA5","GATA6","GCDH","GCGR","GIPC3","GJA5","GJB2","GJB3","GJB6","GLA","GRXCR1","GRXCR2","GYG1","HARS1","HLA-B","HLA-DRB1","IFNGR1","IL10","IL12A","IL12A-AS1","IL23R","IRF2BP2","JAG1","JAK2","JUP","KARS1","KCNA1","KCNA5","KCNE1","KCNE2","KCNJ10","KCNJ2","KCNJ3","KCNJ5","KCNQ1","KCNQ2","KIF1B","KLRC4","LHFPL5","LOXHD1","LRP4","LRTOMT","MAX","MCM2","MDH2","MED12","MEFV","MEN1","MPL","MT-TS2","MVK","MYD88","MYL2","MYL4","MYO6","MYO7A","NABP1","NAGA","NARS2","NF1","NF2","NKX2-5","NKX2-6","NOP56","NPM1","NPPA","NUMA1","NUP155","OTOG","OTOGL","P4HA2","PCDH15","PDE1C","PDGFB","PDZD7","PITX2","PLS1","PML","PNPT1","POLG","PPIP5K2","PRKAR1A","PRRT2","PTPN22","PTPRQ","RARA","RET","RFC1","RIPOR2","RYR1","RYR2","SCD5","SCN1A","SCN1B","SCN2A","SCN2B","SCN3B","SCN4B","SCN5A","SDHA","SDHAF2","SDHB","SDHC","SDHD","SH2B3","SLC12A3","SLC17A8","SLC1A3","SLC25A11","SLC26A4","SLC39A14","SLC9A1","SOX6","STAT3","STAT4","STAT5B","STRC","SUFU","TBC1D24","TBL1XR1","TECRL","TET2","THOC1","THPO","TIMM8A","TLR4","TMC1","TMEM127","TMEM132E","TNC","TNFRSF1A","TPK1","TRDN","TRPM4","TTN","TWNK","UBAC2","USH1C","USH1G","VHL","VSX1","WHRN","ZBTB16"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_VESTIBULAR_HYPOFUNCTION":{"collection":"C5:HPO","systematicName":"M35431","pmid":"","exactSource":"HP:0001756","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001756","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VESTIBULAR_HYPOFUNCTION","geneSymbols":["ARSG","CDH23","CEP78","CIB2","CLRN1","ESPN","ESRP1","HARS1","KARS1","MT-TS2","MYO7A","OTOG","OTOGL","PCDH15","SLC9A1","USH1C","USH1G","WHRN"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HIGH_FREQUENCY_SENSORINEURAL_HEARING_IMPAIRMENT":{"collection":"C5:HPO","systematicName":"M41244","pmid":"","exactSource":"HP:0001757","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001757","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HIGH_FREQUENCY_SENSORINEURAL_HEARING_IMPAIRMENT","geneSymbols":["ASAH1","CEP250","FGF3","FKBP14","LMNA","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_FOOT_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M47051","pmid":"","exactSource":"HP:0001760","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001760","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FOOT_MORPHOLOGY","geneSymbols":["AAAS","AAGAB","AARS1","ABCA12","ABCC9","ABHD12","ABHD16A","ABL1","ACAN","ACTA1","ACTA2","ACTB","ACTC1","ACTN2","ACVR1","ADA","ADAMTS10","ADAMTS2","ADAMTS3","ADAMTSL1","ADAMTSL2","ADAT3","ADCY6","ADGRG6","ADGRV1","ADK","ADNP","ADPRS","AEBP1","AFF3","AGA","AGPAT2","AGRN","AHCY","AHI1","AIFM1","AIP","AKT1","ALAD","ALDH18A1","ALDH1A2","ALDH6A1","ALG12","ALG14","ALG2","ALG3","ALG8","ALG9","ALMS1","ALOX12B","ALOXE3","ALPL","ALS2","AMER1","AMMECR1","ANAPC1","ANK1","ANKRD1","ANKRD55","ANO1","ANO10","ANO5","ANOS1","AP1B1","AP1G1","AP4B1","AP4E1","AP4M1","AP4S1","APC","APC2","APTX","AQP5","ARCN1","ARHGAP31","ARID1A","ARID1B","ARL13B","ARL3","ARL6","ARL6IP1","ARL6IP6","ARMC9","ARSI","ARSL","ARVCF","ARX","ASAH1","ASNS","ASPH","ASXL1","ASXL3","ATAD1","ATAD3A","ATG7","ATL1","ATL3","ATN1","ATP13A2","ATP1A1","ATP1A2","ATP1A3","ATP2A2","ATP2B1","ATP5F1D","ATP6AP2","ATP6V0A2","ATP6V1A","ATP6V1B2","ATP6V1E1","ATP7A","ATP9A","ATPAF2","ATR","ATRIP","ATRX","AUTS2","B3GALNT2","B3GALT6","B3GAT3","B3GLCT","B4GALNT1","B4GALT7","B4GAT1","B9D1","B9D2","BAG3","BAG5","BAP1","BAZ1B","BBS1","BBS12","BBS2","BBS7","BBS9","BCAS3","BCL7B","BCOR","BCR","BGN","BHLHA9","BICD2","BIN1","BLTP1","BMP2","BMP4","BMPER","BMPR1A","BMPR1B","BMS1","BPNT2","BPTF","BRAF","BRCA1","BRCA2","BRD4","BRF1","BRIP1","BRPF1","BRWD3","BSCL2","BUD23","C12orf57","C18orf32","C19orf12","C1R","C2CD3","CACNA1A","CACNA1B","CACNA1C","CADM3","CAMK2G","CAMTA1","CANT1","CAP2","CAPN1","CAPN3","CARD14","CARS1","CASK","CAST","CASZ1","CAV1","CAV3","CAVIN1","CBFB","CBY1","CC2D2A","CCBE1","CCDC141","CCDC22","CCDC28B","CCDC47","CCDC8","CCN2","CCN6","CCNK","CCNQ","CCR6","CCT5","CD247","CD28","CD4","CD96","CDC42","CDC42BPB","CDC45","CDH3","CDK10","CDKL5","CDSN","CENPE","CENPJ","CEP104","CEP120","CEP152","CEP290","CEP41","CEP55","CERS3","CERT1","CFL2","CFTR","CHAT","CHCHD10","CHD3","CHD7","CHD8","CHMP1A","CHN1","CHP1","CHRM3","CHRNG","CHST11","CHST14","CHST3","CHSY1","CIBAR1","CIC","CILK1","CKAP2L","CLCF1","CLCN3","CLCN4","CLDN11","CLIP2","CLTCL1","CNOT2","CNOT3","CNTNAP1","CNTNAP2","COA7","COASY","COG1","COG4","COG6","COG8","COL11A1","COL11A2","COL12A1","COL13A1","COL14A1","COL17A1","COL1A1","COL1A2","COL25A1","COL27A1","COL2A1","COL3A1","COL4A1","COL5A1","COL5A2","COL6A1","COL6A2","COL6A3","COL7A1","COL9A3","COLQ","COMP","COMT","COPB1","COQ8A","COX4I1","COX6A1","COX7B","CPLANE1","CPLX1","CPT1C","CPT2","CREBBP","CRIPT","CRKL","CRLF1","CRPPA","CRYAB","CSGALNACT1","CSNK2A1","CSPP1","CSRP3","CST6","CSTA","CTBP1","CTC1","CTCF","CTDP1","CTH","CTLA4","CTNNA2","CTSB","CTSC","CTSK","CTU2","CUL4B","CUL7","CWC27","CYP27A1","CYP4F22","CYP7B1","DACT1","DAG1","DCAF8","DCC","DCHS1","DCLRE1C","DCPS","DDHD1","DDHD2","DDR2","DDX11","DDX59","DDX6","DEAF1","DES","DGCR2","DGCR6","DGCR8","DHCR24","DHCR7","DHH","DHODH","DHTKD1","DHX16","DHX30","DKC1","DLAT","DLEC1","DLG4","DLK1","DLL4","DLX5","DMD","DMPK","DMXL2","DNA2","DNAJB2","DNAJC30","DNAJC6","DNM1L","DNM2","DNMT3A","DOCK6","DOK7","DOLK","DONSON","DPAGT1","DPH1","DPH2","DPH5","DPM1","DPM3","DPYS","DSC2","DSE","DSG1","DSG2","DSP","DST","DUSP6","DVL1","DYM","DYNC1H1","DYNC2H1","DYNC2I1","DYNC2I2","DYNC2LI1","DYNLT2B","DYRK1A","DYSF","EBP","ECEL1","EDEM3","EED","EEF1A2","EFNB1","EGR2","EHMT1","EIF2AK2","EIF2AK3","EIF2S3","EIF3F","EIF4A3","EIF4H","EIF5A","ELN","EMD","EMG1","EMILIN1","EN1","ENPP1","ENTPD1","EOGT","EP300","EPB41L1","ERBB2","ERCC1","ERCC2","ERCC4","ERCC5","ERCC6","ERCC8","ERF","ERGIC1","ERLIN2","ERMARD","ESCO2","ESS2","EVC","EVC2","EXOC6B","EXOC7","EXOSC3","EXT1","EXT2","EXTL3","EZH2","FA2H","FAM149B1","FAM20C","FAM50A","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FAR1","FARS2","FAT4","FBLN1","FBLN5","FBN1","FBN2","FBXL4","FBXO11","FBXO38","FBXO7","FBXW11","FDFT1","FDX2","FERMT1","FEZF1","FGD1","FGD4","FGF10","FGF14","FGF16","FGF17","FGF8","FGF9","FGFR1","FGFR2","FGFR3","FGFRL1","FHL1","FHL2","FIBP","FIG4","FITM2","FKBP10","FKBP14","FKBP6","FKRP","FKTN","FLI1","FLII","FLNA","FLNB","FLRT1","FLRT3","FLVCR2","FMR1","FOS","FOXE3","FOXG1","FRA10AC1","FRAS1","FREM1","FREM2","FUZ","FXN","GABBR2","GABRA1","GABRA3","GABRD","GABRG2","GAD1","GALC","GALNT2","GAN","GARS1","GATA1","GATA4","GATA6","GATAD1","GATAD2B","GBA1","GBA2","GBF1","GCH1","GDAP1","GDF11","GDF5","GDF6","GFM2","GFPT1","GHR","GJA1","GJA5","GJA8","GJB1","GJB2","GJB3","GJB4","GJB6","GJC2","GLB1","GLDN","GLE1","GLI1","GLI3","GMNN","GMPPA","GMPPB","GNA11","GNAI1","GNAO1","GNAS","GNB1","GNB2","GNB4","GNE","GNPTAB","GNS","GORAB","GOSR2","GP1BB","GPC3","GPC4","GPR101","GPX4","GRHL2","GRIA2","GRIA3","GRIN1","GRIN2A","GRIN2B","GRIN2D","GRIP1","GRM7","GSC","GTF2E2","GTF2I","GTF2IRD1","GTF2IRD2","GTPBP2","GUSB","GZF1","H1-4","H3-3A","H3-3B","H4C11","H4C3","H4C5","H4C9","HAAO","HACD1","HACE1","HADHA","HADHB","HAND2","HARS1","HBA1","HBA2","HCN1","HDAC4","HDAC6","HDAC8","HEATR3","HEPACAM","HEPHL1","HERC1","HERC2","HESX1","HEXB","HEY2","HGD","HINT1","HIRA","HIVEP2","HK1","HLA-DRB1","HNRNPA1","HNRNPH1","HNRNPH2","HNRNPK","HNRNPR","HOXA13","HOXD10","HOXD13","HPGD","HPRT1","HRAS","HS2ST1","HS6ST1","HSD17B4","HSPB1","HSPB8","HSPD1","HSPG2","HTT","HUWE1","HYLS1","IARS2","IBA57","IDS","IDUA","IFIH1","IFITM5","IFRD1","IFT122","IFT140","IFT172","IFT27","IFT43","IFT52","IFT57","IFT74","IFT80","IGF1R","IGF2","IGHMBP2","IHH","IL11RA","IL17RD","IL2RA","IL2RB","IL2RG","IL6ST","IL7R","IMPDH2","INF2","INPP5E","INPP5K","INPPL1","INSR","INTS1","INTS8","IPO8","IQCE","IQSEC2","IRF5","IRF6","IRX5","ITCH","ITGA7","ITGA8","ITGB4","ITPR3","IVNS1ABP","JAG1","JAG2","JARID2","JMJD1C","JPH1","JPH2","JUP","KANK2","KANSL1","KARS1","KAT6A","KAT6B","KAT8","KATNB1","KATNIP","KBTBD13","KCNA1","KCNAB2","KCNH1","KCNJ2","KCNJ5","KCNJ8","KCNK9","KCNMA1","KCNN3","KCTD1","KDELR2","KDM4B","KDM5C","KDSR","KIAA0319L","KIAA0586","KIAA0753","KIAA0825","KIDINS220","KIF14","KIF1A","KIF1B","KIF22","KIF5A","KIF5C","KIF7","KL","KLC2","KLHL24","KLHL41","KLHL9","KLLN","KMT2A","KMT2B","KMT2D","KMT5B","KNSTRN","KPNA3","KRAS","KRT1","KRT10","KRT14","KRT16","KRT17","KRT2","KRT5","KRT6A","KRT6B","KRT6C","KRT74","KRT83","KRT9","KY","KYNU","L1CAM","LAMA3","LAMA4","LAMA5","LAMB2","LAMB3","LAMC2","LAMP2","LARGE1","LARS1","LAS1L","LBR","LDB3","LEMD3","LETM1","LGI4","LIFR","LIG4","LIMK1","LIMS2","LIPE","LITAF","LMBR1","LMBRD1","LMNA","LMNB2","LMOD2","LMX1B","LONP1","LORICRIN","LOX","LRP4","LRP5","LRSAM1","LSS","LTBP3","LTBP4","LUZP1","LZTFL1","LZTR1","MAB21L2","MAD1L1","MAD2L2","MAF","MAFB","MAGEL2","MAN1B1","MAN2B1","MAN2C1","MAP1B","MAP2K1","MAP2K2","MAP3K20","MAP3K7","MAPK1","MAPK8IP3","MAPRE2","MARS1","MASP1","MAT2A","MATN3","MBD5","MBTPS2","MCM3AP","MCOLN1","MCTP2","MECP2","MED12","MED12L","MED13L","MED25","MEF2C","MEG3","MEGF10","MEGF8","MEIS2","MEN1","MET","METTL23","METTL27","MFAP5","MFN2","MFSD2A","MGAT2","MGP","MIA3","MIR17HG","MKKS","MKRN3","MKS1","MLXIPL","MME","MMP1","MMP14","MMP2","MMP23B","MORC2","MPV17","MPZ","MRAS","MRE11","MRPS28","MSL3","MSTO1","MSX1","MT-TE","MT-TS1","MTM1","MTMR2","MTOR","MTRFR","MTTP","MTX2","MUSK","MYBPC1","MYBPC3","MYCN","MYH11","MYH14","MYH3","MYH6","MYH7","MYH8","MYL11","MYL2","MYLK","MYMK","MYMX","MYO9A","MYOD1","MYOT","MYPN","MYRF","MYT1L","NAA10","NAA20","NADSYN1","NALCN","NARS1","NBAS","NBN","NCF1","NDE1","NDN","NDNF","NDRG1","NDST1","NDUFAF6","NEB","NECTIN1","NECTIN4","NEDD4L","NEFH","NEFL","NEK1","NEK8","NEK9","NELFA","NEUROD2","NEXN","NF1","NFATC2","NFIX","NGLY1","NHP2","NIPA1","NIPAL4","NIPBL","NKAP","NKX2-5","NKX2-6","NKX3-2","NLRP1","NLRP3","NOD2","NOG","NONO","NOP10","NOTCH1","NOTCH2","NPAP1","NPHP3","NPM1","NPR2","NPR3","NR4A2","NRAS","NRCAM","NSD1","NSD2","NSDHL","NSUN2","NT5C2","NTNG1","NUP107","NUP188","NUP85","NUP88","NXN","OBSL1","OCA2","ODC1","OFD1","OGDHL","OPA1","OPA3","ORAI1","ORC1","ORC6","OTUD5","OTUD6B","PACS1","PAICS","PALB2","PANK2","PAPPA2","PARN","PCDH19","PCDHGC4","PCGF2","PCNA","PCNT","PDE4D","PDE6D","PDGFRB","PDHA1","PDK3","PDPN","PDXK","PDZD8","PEPD","PERP","PEX1","PEX10","PEX2","PEX26","PEX5","PEX6","PEX7","PHEX","PHF6","PHF8","PHGDH","PHIP","PHYH","PI4KA","PIBF1","PIEZO2","PIGB","PIGF","PIGG","PIGH","PIGL","PIGN","PIGO","PIGP","PIGQ","PIGS","PIGV","PIGY","PIK3CA","PIK3CD","PITX1","PKP1","PLA2G6","PLAA","PLEC","PLEKHG5","PLIN4","PLK4","PLN","PLOD1","PLOD2","PLOD3","PLP1","PLXND1","PMM2","PMP2","PMP22","PMPCA","PNKP","PNPLA1","PNPT1","POC1A","PODXL","POGZ","POLG","POLR3A","POLR3GL","POLRMT","POMGNT1","POMGNT2","POMK","POMP","POMT1","POMT2","POR","PORCN","POU3F4","PPARG","PPCS","PPM1D","PPP1R15B","PPP1R21","PPP2R1A","PPP2R3C","PPP2R5D","PPP3CA","PQBP1","PRDM16","PRDM5","PRG4","PRKACA","PRKACB","PRKAR1A","PRKCG","PRKCZ","PRKD1","PRKG1","PRKG2","PRMT7","PROK2","PROKR2","PRPS1","PRR12","PRUNE1","PRX","PSAT1","PSEN1","PSEN2","PSMB8","PSMD12","PTCH1","PTCH2","PTEN","PTH1R","PTHLH","PTPN2","PTPN22","PTRH2","PUF60","PWAR1","PWRN1","PYCR1","PYCR2","PYROXD1","RAB11B","RAB23","RAB33B","RAB3GAP1","RAB3GAP2","RAB7A","RAD21","RAD51","RAD51C","RAF1","RAG1","RAG2","RAI1","RALA","RBBP8","RBM10","RBM20","RBM8A","RBPJ","RECQL4","REEP1","REEP2","RELN","REPS1","RERE","RET","RETREG1","REV3L","RFC2","RFT1","RFWD3","RFX7","RHBDF2","RHOA","RIN2","RINT1","RIPK4","RIT1","RLIM","RMRP","RNF2","RNF6","RNU12","RNU4ATAC","ROBO1","ROR2","RPGRIP1","RPGRIP1L","RPL10","RPL3L","RPS6KA3","RREB1","RSPO1","RSPO2","RSPRY1","RTEL1","RTL1","RTN2","RTTN","RUSC2","RXYLT1","RYR1","RYR3","SACS","SALL1","SALL4","SAMD9","SAMD9L","SARS1","SASH1","SATB1","SATB2","SBF1","SBF2","SC5D","SCARF2","SCN1A","SCN1B","SCN2A","SCN4A","SCN5A","SCN9A","SCNM1","SCO2","SCYL1","SCYL2","SDHA","SDHB","SDHC","SDHD","SDR9C7","SEC23A","SEC23B","SEC24C","SEC31A","SELENON","SEMA3A","SEMA3E","SERPINA12","SERPINB7","SETBP1","SETD2","SETD5","SETX","SF3B4","SGCA","SGCD","SGCG","SH3PXD2B","SH3TC2","SHANK3","SHH","SHMT2","SHOX","SHROOM4","SIAH1","SIGMAR1","SIK1","SIK3","SIL1","SIM1","SIN3A","SKI","SLC10A7","SLC12A2","SLC12A6","SLC16A2","SLC17A5","SLC18A2","SLC18A3","SLC1A3","SLC1A4","SLC25A1","SLC25A19","SLC25A22","SLC25A24","SLC25A4","SLC25A46","SLC26A2","SLC29A3","SLC2A10","SLC31A1","SLC32A1","SLC33A1","SLC35A2","SLC35A3","SLC35C1","SLC35D1","SLC37A4","SLC39A13","SLC39A14","SLC39A8","SLC5A7","SLC6A8","SLC6A9","SLC9A6","SLC9A7","SLCO2A1","SLURP1","SLX4","SMAD2","SMAD3","SMAD4","SMARCA2","SMARCA4","SMARCAD1","SMARCAL1","SMARCD2","SMARCE1","SMC1A","SMC3","SMC5","SMG9","SMO","SMOC1","SMPD4","SMS","SNAP25","SNAP29","SNCA","SNIP1","SNORD115-1","SNORD116-1","SNRPN","SNX14","SOD1","SON","SORD","SOX10","SOX18","SOX4","SOX5","SOX9","SPART","SPAST","SPECC1L","SPEG","SPEN","SPG11","SPG7","SPRED2","SPRTN","SPRY4","SPTBN1","SPTBN4","SPTLC1","SRD5A3","SRY","STAC3","STAG1","STAG2","STAT4","STS","STX1A","STX1B","STXBP1","SUFU","SULT2B1","SUMF1","SUZ12","SVBP","SVIL","SYNE1","SYNE2","SYNJ1","SYT1","SYT2","TACR3","TAF1","TAF1A","TAF2","TAF6","TAF8","TAFAZZIN","TAOK1","TAT","TBC1D23","TBC1D24","TBC1D2B","TBCE","TBCK","TBL1XR1","TBL2","TBR1","TBX1","TBX15","TBX22","TBX3","TBX4","TCAP","TCF12","TCF20","TCF4","TCTN1","TCTN2","TCTN3","TDO2","TDP1","TELO2","TERC","TERT","TET3","TFAP2B","TFE3","TFG","TGDS","TGFB1","TGFB2","TGFB3","TGFBR1","TGFBR2","TGM1","TH","THOC6","THSD4","TINF2","TLK2","TLL1","TMCO1","TMEM107","TMEM138","TMEM216","TMEM218","TMEM231","TMEM237","TMEM260","TMEM270","TMEM43","TMEM67","TMEM94","TMPO","TMTC3","TNFRSF1B","TNNC1","TNNI2","TNNI3","TNNT1","TNNT2","TNNT3","TOGARAM1","TONSL","TOPORS","TOR1A","TOR1AIP1","TP63","TPM1","TPM2","TPM3","TPR","TRAIP","TRAPPC11","TRIM2","TRIM8","TRIO","TRIP11","TRIP12","TRIP4","TRMT1","TRMT10A","TRMT5","TRPM3","TRPM4","TRPS1","TRPV3","TRPV4","TRRAP","TSPOAP1","TTC21B","TTC26","TTI2","TTN","TTPA","TUBB3","TWIST1","TWIST2","TWNK","TXNDC15","TXNL4A","TXNRD2","TYMS","TYROBP","UBA1","UBA2","UBAP1","UBE2A","UBE2T","UBE3B","UBE4B","UCHL1","UFC1","UFD1","UNC80","UPF3B","USB1","USF3","USP7","USP8","USP9X","VAC14","VAMP1","VANGL1","VAPB","VARS1","VCL","VCP","VEZF1","VIPAS39","VLDLR","VPS13A","VPS13B","VPS13D","VPS33B","VPS35L","VPS37D","VPS41","VRK1","VWA1","WAC","WARS1","WARS2","WASF1","WASHC5","WDPCP","WDR11","WDR19","WDR26","WDR35","WDR73","WDR81","WIPI2","WLS","WNK1","WNT10A","WNT10B","WNT5A","WNT7A","WRAP53","WRN","WWOX","XPA","XRCC2","XRCC4","XYLT1","XYLT2","YARS1","YME1L1","YY1","ZBTB20","ZC4H2","ZDHHC9","ZEB2","ZFYVE26","ZFYVE27","ZIC3","ZMIZ1","ZMPSTE24","ZMYM2","ZNF141","ZNF148","ZNF407","ZNF423","ZNF469","ZNF668","ZNF699","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PES_CAVUS":{"collection":"C5:HPO","systematicName":"M35433","pmid":"","exactSource":"HP:0001761","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001761","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PES_CAVUS","geneSymbols":["AAAS","AARS1","ABHD12","ACTA1","ADCY6","ADPRS","AGRN","AIFM1","ALDH18A1","ALS2","ANO10","ANOS1","APTX","ATG7","ATL1","ATP13A2","ATP1A1","ATP1A3","ATP6V1B2","ATP7A","B3GLCT","B4GALNT1","BAG3","BICD2","BIN1","BSCL2","C19orf12","CAPN1","CARS1","CAV3","CCDC141","CHAT","CHCHD10","CHD7","CHMP1A","CHP1","CNTNAP2","COA7","COASY","COL13A1","COL27A1","COQ8A","COX6A1","CPT1C","CTDP1","CUL4B","CYP27A1","CYP7B1","DCAF8","DCC","DDHD1","DDHD2","DHH","DHTKD1","DMXL2","DNAJB2","DNAJC6","DNM1L","DNM2","DUSP6","DYNC1H1","DYSF","EED","EGR2","EIF2AK2","EMILIN1","ERCC4","ERCC5","ERLIN2","EZH2","FAR1","FBLN5","FBN1","FBXO38","FDX2","FEZF1","FGD4","FGF14","FGF17","FGF8","FGFR1","FHL1","FITM2","FLNA","FLRT1","FLRT3","FXN","GALC","GAN","GARS1","GBA1","GBA2","GBF1","GCH1","GDAP1","GJB1","GJB2","GJC2","GLB1","GMPPA","GNB4","GNS","GOSR2","GRIN2A","GTF2E2","H3-3B","HACD1","HADHA","HADHB","HARS1","HDAC8","HESX1","HEXB","HINT1","HK1","HS6ST1","HSD17B4","HSPB1","HSPB8","HSPD1","IBA57","IDS","IDUA","IFIH1","IFRD1","IL17RD","IMPDH2","INF2","IQSEC2","ITGA7","ITPR3","JAG1","KANSL1","KARS1","KBTBD13","KCNH1","KCNMA1","KCNN3","KIF1B","KIF5A","KLC2","KLHL41","KNSTRN","KPNA3","KY","L1CAM","LAMP2","LAS1L","LBR","LIPE","LITAF","LMNA","LONP1","LRSAM1","MAD1L1","MAFB","MAP1B","MAP3K20","MAP3K7","MCM3AP","MECP2","MED25","MFN2","MME","MMP2","MORC2","MPV17","MPZ","MRE11","MSTO1","MTRFR","MTTP","MYH7","MYL2","MYMX","MYO9A","MYPN","NARS1","NDNF","NDRG1","NEB","NEFH","NEFL","NF1","NFIX","NIPA1","NLRP3","NR4A2","NRCAM","NSD1","NSUN2","OGDHL","OPA1","OPA3","PCGF2","PCNA","PDHA1","PDK3","PDXK","PEX10","PEX2","PEX5","PEX7","PHYH","PI4KA","PIGN","PIK3CD","PLEKHG5","PLIN4","PLP1","PMP2","PMP22","PMPCA","PNKP","PNPT1","PODXL","POLG","PQBP1","PROK2","PROKR2","PRPS1","PRX","PYROXD1","RAB11B","RAB7A","REEP1","REEP2","REPS1","RET","RSPRY1","RTN2","RUSC2","RYR1","SACS","SAMD9L","SBF2","SELENON","SEMA3A","SETBP1","SETX","SH3TC2","SIGMAR1","SLC18A3","SLC25A1","SLC25A46","SLC33A1","SLC5A7","SLC6A8","SNAP25","SORD","SOX10","SPART","SPAST","SPEG","SPEN","SPG11","SPG7","SPRY4","SPTLC1","SUZ12","SYNE1","SYNJ1","SYT2","TACR3","TDP1","TH","TNNT1","TPM2","TPM3","TRAPPC11","TRIM2","TRPV4","TSPOAP1","TTN","TTPA","TWNK","UBAP1","UBE2A","UCHL1","USP9X","VAMP1","VCP","VPS13A","VPS13D","VPS41","VWA1","WARS1","WASHC5","WDR11","WDR26","WDR73","XPA","XRCC4","ZBTB20","ZFYVE26"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_TALIPES_EQUINOVARUS":{"collection":"C5:HPO","systematicName":"M35434","pmid":"","exactSource":"HP:0001762","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001762","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TALIPES_EQUINOVARUS","geneSymbols":["ABHD16A","ACTA1","ADAT3","ADGRG6","ALDH18A1","ALDH1A2","ALG12","ALG14","ALG3","ALG8","ALG9","AMER1","AMMECR1","ANK1","AP4B1","AP4E1","AP4M1","AP4S1","APC2","ARHGAP31","ARSI","ARVCF","ATAD1","ATP6V0A2","ATP6V1A","ATP6V1E1","ATRX","B3GALT6","B3GAT3","B4GALT7","B9D1","BAP1","BCOR","BICD2","BIN1","BLTP1","BMPER","BMPR1B","BRPF1","C12orf57","CACNA1C","CANT1","CC2D2A","CCBE1","CCDC47","CCNQ","CEP55","CHD7","CHMP1A","CHN1","CHRM3","CHRNG","CHST14","CHST3","CILK1","CLCN3","CNTNAP1","COASY","COG1","COG4","COG8","COL12A1","COL1A1","COL1A2","COL2A1","COL3A1","COL5A1","COL5A2","COL6A1","COL6A2","COL6A3","COLQ","COMT","COQ8A","CPLX1","CREBBP","CRIPT","CRLF1","CTBP1","CTDP1","CTH","CTNNA2","CTU2","DCHS1","DES","DHCR24","DHX16","DONSON","DPYS","DSE","DST","DYM","DYNC2H1","EBP","ECEL1","EDEM3","EED","EEF1A2","EHMT1","EIF2S3","EIF4A3","ELN","ENTPD1","EP300","ERBB2","ERCC5","ERGIC1","EVC","EVC2","EZH2","FANCL","FAT4","FBLN5","FBN2","FBXO7","FGD4","FGFRL1","FHL1","FIBP","FKBP10","FKBP14","FKTN","FLNA","FLNB","FOXG1","FUZ","GAD1","GAN","GCH1","GDAP1","GDF5","GLB1","GLDN","GLE1","GLI3","GNPTAB","GP1BB","GPC3","GPC4","GPX4","GRIA2","GSC","GTPBP2","GUSB","GZF1","H1-4","HACD1","HACE1","HBA1","HBA2","HIRA","HK1","HNRNPK","HRAS","HSD17B4","HSPB1","HSPG2","HYLS1","IFIH1","IGHMBP2","IHH","IL6ST","IMPDH2","IPO8","IRF6","ITGA7","ITGA8","JMJD1C","JPH1","KAT6B","KDM5C","KIDINS220","KIF1A","KMT5B","KY","L1CAM","LAMA5","LAMB2","LETM1","LGI4","LIFR","LIMS2","LMBRD1","LMX1B","MAFB","MAN2B1","MAN2C1","MAP3K20","MAP3K7","MAPK1","MCTP2","MED13L","MEGF10","MEGF8","MET","MFN2","MFSD2A","MPZ","MSX1","MTMR2","MTRFR","MTTP","MUSK","MYBPC1","MYH3","MYH7","MYH8","MYL11","MYL2","MYMK","MYMX","MYO9A","MYPN","MYT1L","NADSYN1","NALCN","NDE1","NDRG1","NECTIN1","NEDD4L","NEK8","NEK9","NELFA","NKAP","NKX3-2","NR4A2","NSD1","NSD2","NT5C2","ORC1","ORC6","OTUD5","OTUD6B","PAICS","PEX1","PEX2","PEX26","PEX5","PI4KA","PIEZO2","PIGB","PIGG","PIGL","PITX1","PLEKHG5","PLK4","PLOD1","PLOD2","PLOD3","PLXND1","PMP22","POLR3A","POLR3GL","POLRMT","POR","PPP3CA","PRUNE1","PSAT1","PTRH2","RAB11B","RAB23","RAB3GAP2","RAI1","RBM10","RBM8A","RECQL4","REEP1","REV3L","RINT1","RIPK4","ROBO1","RREB1","RSPO2","RUSC2","RYR1","RYR3","SALL4","SAMD9","SATB2","SBF2","SC5D","SCARF2","SCYL1","SEC24C","SEC31A","SELENON","SETBP1","SETD2","SF3B4","SH3PXD2B","SH3TC2","SHROOM4","SKI","SLC25A19","SLC26A2","SLC31A1","SLC35A2","SLC35D1","SLC6A9","SMAD3","SMARCA2","SMARCAL1","SMOC1","SMS","SNCA","SNIP1","SNRPN","SNX14","SOX9","SPEG","SPTBN1","STAC3","STXBP1","SUZ12","SYNE1","SYT1","TAF1","TAF8","TAFAZZIN","TBC1D23","TBX1","TBX15","TBX4","TCTN2","TCTN3","TFE3","TGDS","TGFB2","TGFB3","TGFBR1","TGFBR2","TH","TMCO1","TMTC3","TNNI2","TNNT3","TOR1A","TP63","TPM2","TPM3","TRAIP","TRIM2","TRIP11","TRPM3","TRPV4","TSPOAP1","TTN","TWIST1","TWIST2","UBE2A","UFD1","UNC80","USP8","VANGL1","VPS33B","VRK1","VWA1","WDR73","WNT7A","YME1L1","ZC4H2","ZFYVE27","ZIC3","ZNF148","ZNF699","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PES_PLANUS":{"collection":"C5:HPO","systematicName":"M35435","pmid":"","exactSource":"HP:0001763","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001763","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PES_PLANUS","geneSymbols":["ABL1","ACTA2","ADGRV1","ADNP","AEBP1","AFF3","AGA","AHCY","ALDH18A1","ALG14","ALG2","ALMS1","AMMECR1","ANOS1","AP1G1","AP4B1","AP4E1","AP4M1","AP4S1","APC2","ARX","ASPH","ASXL3","ATP1A2","ATP1A3","ATP6AP2","ATP6V0A2","ATP6V1B2","ATP6V1E1","ATP7A","ATR","ATRX","B3GALT6","B3GAT3","B4GALT7","BAZ1B","BCL7B","BCR","BGN","BICD2","BPTF","BRCA1","BRCA2","BRF1","BRIP1","BRWD3","BSCL2","BUD23","C12orf57","CACNA1A","CACNA1C","CADM3","CANT1","CBFB","CCDC141","CCNK","CDC42BPB","CDK10","CEP152","CFL2","CHCHD10","CHD7","CHD8","CHST3","CIC","CLCN4","CLDN11","CLIP2","CNOT3","COL12A1","COL1A1","COL1A2","COL27A1","COL2A1","COL5A1","COL5A2","COL9A3","COMP","COPB1","CREBBP","CRKL","CRLF1","CSGALNACT1","CTSC","CUL4B","CUL7","CWC27","DACT1","DCC","DEAF1","DHX30","DLG4","DMD","DNAJC30","DPAGT1","DPH1","DPH2","DPH5","DPM3","DUSP6","DYM","EGR2","EIF3F","EIF4H","EIF5A","ELN","EMILIN1","EP300","ERCC4","EXOC6B","EXT2","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FBLN5","FBN1","FBXO11","FEZF1","FGD1","FGF17","FGF8","FGFR1","FIBP","FKBP14","FKBP6","FLI1","FLII","FLNA","FLNB","FLRT3","FMR1","FOXE3","FOXG1","GABRA1","GABRD","GABRG2","GAN","GARS1","GATA4","GDF11","GDF5","GDF6","GFPT1","GJA5","GJA8","GMPPB","GNB1","GORAB","GRIA3","GRIN2B","GRIN2D","GTF2I","GTF2IRD1","GTF2IRD2","H3-3B","H4C11","H4C5","HCN1","HDAC8","HEATR3","HERC1","HESX1","HEY2","HIVEP2","HK1","HNRNPH2","HNRNPK","HS6ST1","HSPG2","IARS2","IFITM5","IL17RD","IPO8","IQSEC2","JARID2","KANSL1","KAT6A","KCNH1","KCNMA1","KCNN3","KDELR2","KMT2A","L1CAM","LAS1L","LIMK1","LMNA","LMX1B","LOX","MAB21L2","MAD2L2","MAPK1","MAPRE2","MAT2A","MED12","MED12L","METTL23","METTL27","MFAP5","MGAT2","MLXIPL","MMP2","MORC2","MPZ","MTOR","MYH11","MYH7","MYLK","MYPN","NAA20","NCF1","NDNF","NDRG1","NDST1","NDUFAF6","NONO","NPR3","NSD1","PACS1","PALB2","PCDH19","PDE4D","PEX6","PHF8","PIEZO2","PIGG","PLOD1","PMM2","PMP22","PMPCA","PRDM5","PRKG1","PRKG2","PROK2","PROKR2","PRR12","PRX","PUF60","PYCR1","PYROXD1","RAB33B","RAB3GAP2","RAB7A","RAD51","RAD51C","RAI1","RFC2","RFWD3","RIN2","RLIM","RPS6KA3","RSPRY1","RYR1","SALL1","SALL4","SARS1","SBF1","SBF2","SCN1A","SCN1B","SCN2A","SCN9A","SCO2","SEC23A","SELENON","SEMA3A","SETD2","SH3TC2","SIL1","SKI","SLC10A7","SLC16A2","SLC1A3","SLC26A2","SLC29A3","SLC37A4","SLC39A13","SLC5A7","SLC9A7","SLX4","SMAD2","SMAD3","SMAD4","SMARCA2","SMC5","SNRPN","SOX10","SOX5","SOX9","SPEN","SPRED2","SPRTN","SPRY4","STAG2","STX1A","STX1B","SYT2","TACR3","TAOK1","TBC1D23","TBL1XR1","TBL2","TBX4","TCF4","TDO2","TET3","TFE3","TGFB1","TGFB2","TGFB3","TGFBR1","TGFBR2","THSD4","TLK2","TMCO1","TMEM270","TONSL","TPM2","TPM3","TPR","TRIO","TRMT1","TRPM3","TRPS1","TRPV4","TTN","UBE2A","UBE2T","UCHL1","USP9X","VLDLR","VPS13B","VPS37D","WAC","WASF1","WDR11","XRCC2","XYLT1","XYLT2","ZDHHC9","ZEB2","ZNF148","ZNF469"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HAMMERTOE":{"collection":"C5:HPO","systematicName":"M35436","pmid":"","exactSource":"HP:0001765","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001765","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HAMMERTOE","geneSymbols":["AARS1","ADCY6","AEBP1","BCOR","BMPER","BSCL2","CHCHD10","CHP1","COA7","DCAF8","DHCR7","EGR2","ESCO2","FBN1","GARS1","GBF1","GDAP1","GNB4","HARS1","HSD17B4","INF2","ITPR3","KAT6A","KIF1B","LMNA","LRSAM1","MAD1L1","MFN2","MORC2","MPV17","MPZ","MYH8","NDRG1","NEFL","NRCAM","PDXK","PEX7","PHYH","PLEKHG5","PMP2","PMP22","PRX","RAB7A","REEP1","SACS","SBF2","SH3TC2","SIGMAR1","SLC35A3","SPART","SYT2","TOR1A","TRPV4","VCP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BROAD_FOOT":{"collection":"C5:HPO","systematicName":"M35437","pmid":"","exactSource":"HP:0001769","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001769","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BROAD_FOOT","geneSymbols":["AIFM1","AIP","ARL6","B3GLCT","BBS1","BMPR1B","CCDC28B","CDC42BPB","DYM","DYNC1H1","EED","EZH2","FGD1","FGFR1","GDF6","GPC3","GPC4","GPR101","LMBR1","MASP1","MSL3","NLRP3","NSD1","PDE4D","PHF6","POGZ","POR","PTH1R","RPL10","SLC26A2","SUZ12","TBL1XR1","TONSL","XYLT1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_TOE_SYNDACTYLY":{"collection":"C5:HPO","systematicName":"M35438","pmid":"","exactSource":"HP:0001770","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001770","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TOE_SYNDACTYLY","geneSymbols":["ADNP","ALDH1A2","AP1G1","APC","APC2","ARCN1","ARHGAP31","ARL6IP6","ATP6V1B2","ATP9A","B3GLCT","BBS7","BCOR","BCR","BHLHA9","BMP2","BMP4","BMPR1B","BMS1","BRCA1","BRCA2","BRD4","BRIP1","CACNA1C","CAMTA1","CCNQ","CD96","CDC45","CDH3","CEP120","CEP55","CERT1","CKAP2L","CLCF1","CNOT2","CNTNAP1","CPLANE1","CREBBP","CRKL","CSGALNACT1","CTCF","CUL4B","DACT1","DDX11","DDX6","DEAF1","DHCR7","DLL4","DYNC2H1","DYNC2I1","DYNC2I2","DYNC2LI1","DYRK1A","EBP","EFNB1","EN1","EP300","ERCC4","ESCO2","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FAT4","FBLN1","FBXW11","FDFT1","FGF10","FGF16","FGF9","FGFR1","FGFR2","FGFR3","FIG4","FLI1","FLII","FLNA","FRAS1","FREM2","GABRA3","GDF5","GJA1","GLI3","GNA11","GNE","GPC3","GPC4","GRIP1","H3-3A","H4C9","HDAC4","HDAC8","HEPHL1","HOXD13","IFT140","IFT172","IFT43","IFT80","IL11RA","IQCE","IQSEC2","IRF6","ITGB4","JARID2","KCNJ2","KCNJ5","KCTD1","KIAA0753","KIF7","KMT2A","KMT2B","LIG4","LMBR1","LRP4","MAB21L2","MAD2L2","MAN1B1","MAP3K20","MAPK1","MAPRE2","MCTP2","MECP2","MED25","MEF2C","MEGF8","MEIS2","MIR17HG","MRPS28","MYCN","MYH8","MYRF","NBN","NECTIN1","NECTIN4","NEDD4L","NEK9","NIPBL","NOG","NSD1","NSDHL","NSUN2","NXN","OTUD6B","PALB2","PDE6D","PHGDH","PHIP","PIGY","PIK3CA","PLEC","POLR3A","POLR3GL","PORCN","PRKD1","PSAT1","PSMD12","PUF60","RAB23","RAD21","RAD51","RAD51C","RAI1","RALA","RBBP8","RBPJ","RFWD3","RHOA","RIPK4","ROR2","RPL10","SALL1","SALL4","SATB1","SC5D","SCARF2","SCNM1","SETD2","SETD5","SF3B4","SHANK3","SHH","SHMT2","SIK3","SIN3A","SLC12A2","SLC12A6","SLC39A8","SLX4","SMAD2","SMAD4","SMARCAD1","SMC1A","SMC3","SMO","SMOC1","SOX5","STAG1","SVBP","SYT1","TBCK","TBR1","TBX15","TBX22","TCTN3","TELO2","TFAP2B","TMEM231","TP63","TRIO","TRMT5","TRRAP","TTC21B","TTI2","TWIST1","TWIST2","TXNL4A","UBA2","UBE2A","UBE2T","WDPCP","WDR19","WLS","WNT10B","WNT7A","XRCC2","ZMIZ1","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ACHILLES_TENDON_CONTRACTURE":{"collection":"C5:HPO","systematicName":"M35439","pmid":"","exactSource":"HP:0001771","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001771","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACHILLES_TENDON_CONTRACTURE","geneSymbols":["ABCC9","ABHD12","ACTA1","ADAT3","ALS2","BICD2","COL12A1","COL6A1","COL6A2","COL6A3","CRPPA","DMD","EMD","FHL1","FKRP","FKTN","GJB1","GNS","HINT1","HRAS","JAG2","KY","LARGE1","LMNA","LMX1B","MARS1","MEGF10","MT-TE","MYOT","NGLY1","NSUN2","OPA1","PLEC","POMT1","PTRH2","PYROXD1","SCN4A","SGCA","SGCG","SLC12A6","SLC25A4","SLC39A14","SYNE1","SYNE2","TMEM43","TNNT1","TTN","UFC1","ZC4H2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_TALIPES_EQUINOVALGUS":{"collection":"C5:HPO","systematicName":"M35440","pmid":"","exactSource":"HP:0001772","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001772","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TALIPES_EQUINOVALGUS","geneSymbols":["ABHD16A","ATAD3A","B3GAT3","B4GALT7","CHST3","CLTCL1","ESCO2","FLNB","GDF5","LMX1B","OTUD5","PTRH2","TNNT3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SHORT_FOOT":{"collection":"C5:HPO","systematicName":"M35441","pmid":"","exactSource":"HP:0001773","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001773","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_FOOT","geneSymbols":["ADAMTSL2","ARL6","B3GLCT","BBS1","BGN","BMP2","BMPR1B","BPNT2","BRD4","CAMK2G","CASZ1","CCBE1","CCDC28B","CCDC47","CDKL5","CENPE","CEP120","CERT1","CHSY1","COG1","COL11A1","COL2A1","COL3A1","CTSK","CUL4B","DLK1","DYNC1H1","DYNC2H1","DYNC2I1","DYNC2I2","DYNC2LI1","DYRK1A","FAM50A","FBN1","FBXL4","FBXO11","FGD1","FGFR1","FGFR2","FGFR3","FMR1","GABBR2","GABRD","GALNT2","GDF5","GJA1","GPC3","GPC4","H4C3","HDAC4","HDAC6","HDAC8","HERC2","HNRNPR","HSPG2","HTT","HUWE1","IFT140","IFT172","IFT80","IGF1R","IHH","INPPL1","KCNAB2","KCNJ2","KCNJ5","KDM4B","KDM5C","KIAA0753","KIF5C","LAS1L","LIG4","LMBR1","LTBP3","LUZP1","MAGEL2","MAP3K7","MAPK8IP3","MASP1","MBD5","MECP2","MEG3","MKRN3","MMP23B","MSL3","NDN","NGLY1","NIPBL","NOG","NPAP1","NSUN2","NTNG1","OCA2","PDGFRB","PDPN","PIGL","PIGN","POC1A","PPM1D","PRDM16","PRKCZ","PTH1R","PWAR1","PWRN1","RAD21","RECQL4","RERE","RMRP","RNF2","RNU4ATAC","RTL1","SATB1","SATB2","SHOX","SIM1","SIN3A","SKI","SLC26A2","SLC35C1","SMC1A","SMC3","SNORD115-1","SNORD116-1","SNRPN","SON","SPART","SPEN","TBCE","TBL1XR1","TELO2","TONSL","TRIP11","TRPS1","TRRAP","TTC21B","TUBB3","UBE2A","UBE4B","USP7","USP9X","WDR19","WDR35","WDR81","WNT7A","ZMYM2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BILATERAL_TALIPES_EQUINOVARUS":{"collection":"C5:HPO","systematicName":"M35442","pmid":"","exactSource":"HP:0001776","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001776","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BILATERAL_TALIPES_EQUINOVARUS","geneSymbols":["ABHD16A","B3GALT6","BMPR1B","CCNQ","CHD7","CLCN3","CNTNAP1","COL3A1","CTNNA2","CTU2","DHCR24","DSE","EBP","FANCL","GDAP1","GDF5","GLB1","GLDN","MAN2B1","MAN2C1","MAPK1","MFSD2A","MYT1L","PI4KA","PIEZO2","PIGL","PITX1","PLOD3","PRUNE1","PSAT1","RAB11B","RBM10","RSPO2","SATB2","SH3PXD2B","SLC26A2","SLC35D1","SNRPN","SOX9","STAC3","SYNE1","SYT1","TRPM3","TWIST1","UBE2A","VANGL1","YME1L1","ZIC3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_TOE_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M35443","pmid":"","exactSource":"HP:0001780","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001780","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_TOE_MORPHOLOGY","geneSymbols":["AARS1","ABCA12","ABCC9","ABL1","ACAN","ACTB","ACVR1","ADA","ADAMTS2","ADCY6","ADNP","AEBP1","AHI1","AKT1","ALDH1A2","ALDH6A1","ALG12","ALG3","ALMS1","ALOX12B","ALOXE3","AMER1","AP1G1","APC","APC2","ARCN1","ARHGAP31","ARID1A","ARID1B","ARL13B","ARL3","ARL6","ARL6IP6","ARMC9","ARSL","ARVCF","ARX","ASAH1","ASPH","ASXL1","ATL3","ATN1","ATP2B1","ATP6V1B2","ATP6V1E1","ATP9A","ATR","ATRIP","B3GALT6","B3GAT3","B3GLCT","B4GALT7","B9D1","B9D2","BAZ1B","BBS1","BBS12","BBS2","BBS7","BBS9","BCL7B","BCOR","BCR","BHLHA9","BLTP1","BMP2","BMP4","BMPER","BMPR1A","BMPR1B","BMS1","BPNT2","BPTF","BRCA1","BRCA2","BRD4","BRIP1","BSCL2","BUD23","C12orf57","C2CD3","CACNA1C","CAMTA1","CANT1","CASK","CASZ1","CBY1","CC2D2A","CCDC22","CCDC28B","CCDC47","CCNQ","CD96","CDC42","CDC45","CDH3","CDKL5","CENPE","CENPJ","CEP104","CEP120","CEP152","CEP290","CEP41","CEP55","CERT1","CHCHD10","CHD7","CHP1","CHRNG","CHST11","CHST3","CHSY1","CIBAR1","CILK1","CKAP2L","CLCF1","CLIP2","CNOT2","CNTNAP1","COA7","COG8","COL11A2","COL12A1","COL1A1","COL1A2","COL2A1","COL3A1","COL6A1","COL6A2","COL6A3","COMT","COX4I1","COX7B","CPLANE1","CPLX1","CPT1C","CPT2","CREBBP","CRKL","CSGALNACT1","CSNK2A1","CSPP1","CTBP1","CTCF","CTU2","CUL4B","CWC27","DACT1","DCAF8","DCLRE1C","DCPS","DDX11","DDX59","DDX6","DEAF1","DHCR7","DLEC1","DLK1","DLL4","DLX5","DMXL2","DNA2","DNAJC30","DNM1L","DNMT3A","DOCK6","DPM1","DSP","DVL1","DYNC2H1","DYNC2I1","DYNC2I2","DYNC2LI1","DYNLT2B","DYRK1A","EBP","EED","EFNB1","EGR2","EIF2AK3","EIF4A3","EIF4H","EIF5A","ELN","EN1","EOGT","EP300","ERCC1","ERCC4","ERF","ERLIN2","ERMARD","ESCO2","EVC","EVC2","EXT2","EXTL3","EZH2","FAM149B1","FAM20C","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FAT4","FBLN1","FBN1","FBXO11","FBXW11","FDFT1","FGF10","FGF16","FGF9","FGFR1","FGFR2","FGFR3","FGFRL1","FHL1","FIBP","FIG4","FKBP6","FLI1","FLII","FLNA","FLNB","FRA10AC1","FRAS1","FREM1","FREM2","GABRA3","GABRD","GALNT2","GARS1","GATA1","GATA4","GATA6","GATAD2B","GBA1","GBF1","GCH1","GDAP1","GDF5","GDF6","GHR","GJA1","GJA5","GJA8","GLI1","GLI3","GMNN","GNA11","GNAI1","GNAO1","GNAS","GNB4","GNE","GP1BB","GPC3","GPC4","GPX4","GRIN1","GRIP1","GRM7","GTF2I","GTF2IRD1","GTF2IRD2","H3-3A","H4C9","HARS1","HBA1","HBA2","HDAC4","HDAC8","HEATR3","HEPACAM","HEPHL1","HERC2","HIRA","HNRNPH1","HNRNPK","HNRNPR","HOXA13","HOXD13","HPGD","HRAS","HS2ST1","HSD17B4","HSPB1","HSPB8","HSPG2","HUWE1","HYLS1","IFT122","IFT140","IFT172","IFT27","IFT43","IFT52","IFT57","IFT74","IFT80","IGF1R","IHH","IL11RA","IL2RG","IL7R","IMPDH2","INF2","INPP5E","INTS1","INTS8","IPO8","IQCE","IQSEC2","IRF6","IRX5","ITCH","ITGB4","ITPR3","JARID2","JMJD1C","JUP","KAT6A","KAT6B","KAT8","KATNIP","KCNA1","KCNAB2","KCNH1","KCNJ2","KCNJ5","KCNJ8","KCNMA1","KCNN3","KCTD1","KIAA0586","KIAA0753","KIAA0825","KIF1A","KIF1B","KIF7","KMT2A","KMT2B","KMT2D","KMT5B","KRAS","LARS1","LBR","LETM1","LIFR","LIG4","LIMK1","LMBR1","LMNA","LRP4","LRSAM1","LTBP4","LUZP1","LZTFL1","MAB21L2","MAD1L1","MAD2L2","MAN1B1","MAN2C1","MAP3K20","MAPK1","MAPRE2","MBD5","MCTP2","MECP2","MED12","MED25","MEF2C","MEG3","MEGF8","MEIS2","METTL27","MFN2","MGP","MIA3","MIR17HG","MKKS","MKS1","MLXIPL","MMP2","MMP23B","MORC2","MPV17","MPZ","MRPS28","MTM1","MTX2","MYCN","MYH3","MYH8","MYL11","MYOD1","MYRF","NAA10","NBAS","NBN","NCF1","NDRG1","NECTIN1","NECTIN4","NEDD4L","NEFL","NEK1","NEK9","NELFA","NEUROD2","NFIX","NIPBL","NKX2-5","NKX2-6","NKX3-2","NOD2","NOG","NONO","NOTCH1","NOTCH2","NPHP3","NPR2","NPR3","NR4A2","NRAS","NRCAM","NSD1","NSD2","NSDHL","NSUN2","NT5C2","NUP107","NUP85","NXN","ODC1","OFD1","OTUD5","OTUD6B","PALB2","PAPPA2","PCDHGC4","PCGF2","PCNT","PDE4D","PDE6D","PDPN","PDXK","PDZD8","PEX7","PHF6","PHF8","PHGDH","PHIP","PHYH","PIBF1","PIEZO2","PIGF","PIGG","PIGH","PIGL","PIGN","PIGO","PIGP","PIGQ","PIGV","PIGY","PIK3CA","PITX1","PLAA","PLEC","PLEKHG5","PLK4","PMP2","PMP22","PNKP","POLR3A","POLR3GL","PORCN","PPP1R15B","PPP1R21","PPP2R1A","PPP2R5D","PRDM16","PRDM5","PRG4","PRKACA","PRKACB","PRKAR1A","PRKCZ","PRKD1","PRKG2","PRX","PSAT1","PSMB8","PSMD12","PTEN","PTH1R","PTHLH","PTRH2","PUF60","PYCR2","RAB11B","RAB23","RAB3GAP1","RAB3GAP2","RAB7A","RAD21","RAD51","RAD51C","RAG1","RAG2","RAI1","RALA","RBBP8","RBPJ","REEP1","RERE","RETREG1","RFC2","RFWD3","RFX7","RHBDF2","RHOA","RIPK4","RMRP","RNF6","RNU4ATAC","ROBO1","ROR2","RPGRIP1","RPGRIP1L","RPL10","RREB1","RSPRY1","RTL1","RYR3","SACS","SALL1","SALL4","SATB1","SATB2","SBF2","SC5D","SCARF2","SCN1B","SCN2A","SCN4A","SCN9A","SCNM1","SEC24C","SETBP1","SETD2","SETD5","SF3B4","SH3TC2","SHANK3","SHH","SHMT2","SHOX","SIAH1","SIGMAR1","SIK1","SIK3","SIN3A","SKI","SLC12A2","SLC12A6","SLC16A2","SLC25A22","SLC26A2","SLC29A3","SLC32A1","SLC35A3","SLC35C1","SLC39A8","SLC6A9","SLCO2A1","SLX4","SMAD2","SMAD4","SMARCA2","SMARCA4","SMARCAD1","SMARCD2","SMARCE1","SMC1A","SMC3","SMO","SMOC1","SMS","SNRPN","SOD1","SOX5","SOX9","SPART","SPECC1L","SPEN","SRY","STAG1","STX1A","SUFU","SUMF1","SUZ12","SVBP","SVIL","SYT1","SYT2","TAF6","TBC1D24","TBC1D2B","TBCK","TBL1XR1","TBL2","TBR1","TBX1","TBX15","TBX22","TBX3","TBX4","TCF12","TCF20","TCF4","TCTN1","TCTN2","TCTN3","TELO2","TFAP2B","TGDS","TGFB3","TGFBR2","THOC6","TLL1","TMCO1","TMEM107","TMEM138","TMEM216","TMEM218","TMEM231","TMEM237","TMEM260","TMEM270","TMEM67","TMEM94","TNNT3","TOGARAM1","TOPORS","TOR1A","TP63","TPM2","TPR","TRAIP","TRIM8","TRIO","TRIP12","TRMT10A","TRMT5","TRPM3","TRPV4","TRRAP","TTC21B","TTI2","TWIST1","TWIST2","TXNDC15","TXNL4A","UBA2","UBE2A","UBE2T","UBE4B","UFD1","USP7","USP9X","VAC14","VCP","VPS13B","VPS37D","WASF1","WDPCP","WDR19","WIPI2","WLS","WNK1","WNT10B","WNT5A","WNT7A","WWOX","XRCC2","XYLT1","XYLT2","YY1","ZEB2","ZMIZ1","ZMPSTE24","ZMYM2","ZNF141","ZNF407","ZNF423","ZNF469","ZNF668","ZNF699","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BROAD_METATARSAL":{"collection":"C5:HPO","systematicName":"M35444","pmid":"","exactSource":"HP:0001783","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001783","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BROAD_METATARSAL","geneSymbols":["ABCC9","ADAMTS10","CANT1","FBN1","FGFR1","FGFR2","MMP2","NEK1","NPR2","PDE4D","PTH1R","RAB33B","TTC26"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ANKLE_SWELLING":{"collection":"C5:HPO","systematicName":"M43264","pmid":"","exactSource":"HP:0001785","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001785","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANKLE_SWELLING","geneSymbols":["ANGPT2","ANKRD55","CD247","FLT4","GJC2","IL2RA","IL2RB","MAFB","PIEZO1","PTPN2","PTPN22","STAT4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NARROW_FOOT":{"collection":"C5:HPO","systematicName":"M43265","pmid":"","exactSource":"HP:0001786","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001786","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NARROW_FOOT","geneSymbols":["ADK","FBN1","PQBP1","SCARF2","TCF4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_DELIVERY":{"collection":"C5:HPO","systematicName":"M35445","pmid":"","exactSource":"HP:0001787","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001787","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_DELIVERY","geneSymbols":["ACTA1","ACY1","ADAMTS2","ADNP","AGTPBP1","ARSB","ASH1L","ASXL3","ATP6V0A2","CACNA1D","CD109","CDC42BPB","CFL2","CHST3","COL1A1","COL1A2","COL25A1","COL3A1","COL5A1","COL5A2","CRTAP","CYP11A1","CYP11B1","CYP11B2","DEF6","DHCR7","DST","DTYMK","EEF1A2","ERGIC1","F2","F8","FGFR3","GP1BA","GP1BB","HACD1","HERC2","HNRNPK","IARS2","ITGA2","ITGA2B","ITGB3","KBTBD13","KDM3B","KLHL40","KLHL41","LDHA","LEMD2","LMOD3","LTBP4","MAGEL2","MCM4","MED12","MKRN3","MKS1","MTHFS","MTM1","MYH3","MYPN","NEB","NPAP1","OPA1","ORC1","PEX1","PIGA","PLOD1","POLR3A","POR","PRKAG2","PTCD3","PTPN23","PWAR1","PWRN1","RBM10","RMRP","RNU4ATAC","RSPRY1","RYR1","SATB1","SCN4A","SCYL2","SERPINH1","SHPK","SLC26A2","SLC6A5","SNORD115-1","SNORD116-1","SON","SPTBN1","TAF1","TAOK1","TPM2","TPM3","UQCC2","VARS1","ZMPSTE24","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PREMATURE_RUPTURE_OF_MEMBRANES":{"collection":"C5:HPO","systematicName":"M35446","pmid":"","exactSource":"HP:0001788","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001788","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PREMATURE_RUPTURE_OF_MEMBRANES","geneSymbols":["ADAMTS2","ADNP","ATP6V0A2","COL1A1","COL3A1","COL5A1","COL5A2","DEF6","FGFR3","LEMD2","MED12","PLOD1","RBM10","RSPRY1","SERPINH1","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYDROPS_FETALIS":{"collection":"C5:HPO","systematicName":"M35447","pmid":"","exactSource":"HP:0001789","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001789","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYDROPS_FETALIS","geneSymbols":["ABCC6","ADA2","ADAMTS3","AGGF1","AHCY","ALG1","ALG8","ALG9","ALPK3","ASAH1","BSND","CALCRL","CARS2","CASP10","CCBE1","CDAN1","CHRNG","COL11A1","COL1A1","COL1A2","COL2A1","CRLS1","CTSA","DYNC2H1","DYNC2I1","DYNC2I2","ENPP1","EPB41","EPHB4","FAS","FASLG","FAT4","FIG4","FLNB","FLT4","FOXC2","FOXF1","GATA1","GATB","GATC","GBA1","GBE1","GLB1","GRIP1","GUSB","GYPC","HADHA","HBA1","HBA2","HEATR3","HSPG2","IFT80","KIAA0586","KIF20A","KLF1","LARS2","LBR","MCM10","MDFIC","MECOM","MGAT2","MMACHC","MUSK","NDUFB10","NEK1","NEK9","NEU1","NR1H4","NSF","PIEZO1","PIGA","PKLR","PLD1","PMM2","PPP3CA","PRKCD","PTH1R","QRSL1","RASA1","RASGRP1","RHD","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS7","RYR1","SCN4A","SCN5A","SLC17A5","SLC26A2","SLC35D1","SOX18","SPTA1","SPTB","TALDO1","TAPT1","THSD1","TRIM37","TRIP11","TSR2","UROD","UROS","VAC14","WDR35","WNT7A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NONIMMUNE_HYDROPS_FETALIS":{"collection":"C5:HPO","systematicName":"M35448","pmid":"","exactSource":"HP:0001790","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001790","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NONIMMUNE_HYDROPS_FETALIS","geneSymbols":["ADA2","ALG1","ALPK3","CALCRL","CARS2","CCBE1","COL1A1","COL1A2","CRLS1","CTSA","EPHB4","FLT4","FOXC2","FOXF1","GATA1","GATB","GATC","GBA1","GRIP1","HEATR3","LARS2","LBR","MCM10","MDFIC","MUSK","NDUFB10","NR1H4","PIEZO1","PKLR","PMM2","PPP3CA","QRSL1","RASA1","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS7","SCN4A","SCN5A","SLC35D1","SOX18","THSD1","TSR2","UROD","UROS"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FETAL_ASCITES":{"collection":"C5:HPO","systematicName":"M45401","pmid":"","exactSource":"HP:0001791","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001791","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FETAL_ASCITES","geneSymbols":["EIF5A","GNB2","HSD17B4","MDFIC","NPC1","NPC2","PTH1R","RHD"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SMALL_NAIL":{"collection":"C5:HPO","systematicName":"M35449","pmid":"","exactSource":"HP:0001792","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001792","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SMALL_NAIL","geneSymbols":["ACTL6B","ADAMTSL2","AFF4","ALG12","ALG3","ALOX12B","ALOXE3","APC2","ARHGAP31","ARID1A","ARID1B","ARID2","ATP6V1B2","BAZ1B","BCL7B","BHLHA9","BICRA","BMPER","BUD23","CCDC22","CDH1","CDIN1","CDKN1C","CENPT","CKAP2L","CLIP2","COL11A1","COL11A2","COL7A1","CPT2","CWC27","DHX37","DLK1","DLL4","DNAJC21","DNAJC30","DOCK6","DPF2","DPH1","DPH2","DPYSL5","DYNC2LI1","EED","EIF4H","EIF5A","ELN","EOGT","ERCC2","EVC","EVC2","EZH2","FBXO28","FGFR1","FGFR2","FKBP6","FRAS1","FTO","GDF5","GJB6","GLI1","GPC3","GPC4","GTF2I","GTF2IRD1","GTF2IRD2","HEPHL1","HMGA2","HOXA13","HRAS","HUWE1","HYMAI","IGF2","IHH","IKBKG","INPPL1","KCNH1","KCNMA1","KCNN3","KDM1A","KIF15","KMT2D","KRT5","LIG4","LIMK1","MBTPS2","MCTP2","MEG3","METTL27","MLXIPL","MPLKIP","MSX1","NCF1","NECTIN4","NEPRO","NHP2","NOP10","NOTCH1","NSD1","NSDHL","NSUN2","ODC1","OTUD5","PEX2","PGAP2","PGAP3","PIGA","PIGB","PIGF","PIGL","PIGN","PIGO","PIGV","PIGW","PIGY","PLAG1","PLAGL1","PLEC","POC1A","POLR3A","POP1","PPM1D","PPP1CB","PPP2R5D","PRKACA","PRKACB","PRR12","PTDSS1","RAF1","RBPJ","RERE","RFC2","RIPK4","RLIM","ROR2","RPS6KA3","RSPO1","RTL1","SCO2","SET","SETD2","SHANK3","SHOC2","SHOX","SIAH1","SLC25A24","SLC35D1","SMARCA4","SMARCAD1","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SOX11","SOX4","SPEN","STAMBP","STX1A","SUZ12","TBC1D24","TBL2","TBX3","TBX4","TCTN3","TELO2","TFAP2A","TMEM222","TMEM270","TP63","TRRAP","TSPAN7","TWIST1","TWIST2","VPS35L","VPS37D","WASHC5","WDR73","WLS","WNT10A","ZIC3","ZMYM2","ZNF462"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPERCONVEX_NAIL":{"collection":"C5:HPO","systematicName":"M35450","pmid":"","exactSource":"HP:0001795","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001795","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERCONVEX_NAIL","geneSymbols":["ARX","CPLX1","CTBP1","ECE1","FGFRL1","H3-3B","HPGD","LETM1","MBTPS2","NSD2","ORC1","PIGV","PLEC","POMP","PTDSS1","RECQL","RNU4ATAC","RPS6KA3","SETBP1","SIN3A","TCF4","TP63"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ANONYCHIA":{"collection":"C5:HPO","systematicName":"M35451","pmid":"","exactSource":"HP:0001798","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001798","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANONYCHIA","geneSymbols":["ACTG2","APC","ARHGAP31","ARID1A","ARID1B","ARX","ATP2A2","ATP6V1B2","BCR","CASK","CDKL5","COL17A1","COL7A1","CRKL","DLL4","DMXL2","DOCK6","DSP","EOGT","FIG4","GJB6","GNAO1","GPC4","GRHL2","GRIN1","GRM7","ITGB4","JUP","KCNA1","KCNH1","KCNMA1","KCNN3","KRT14","LAMA3","LAMB3","LAMC2","LMX1B","LRP4","MAPK1","MMP1","NEUROD2","NOG","NOTCH1","PIGF","PIGP","PIGQ","PLEC","PNKP","PORCN","RBBP8","RBPJ","RIPK4","ROR2","RSPO4","SCN1B","SCN2A","SIK1","SLC25A22","SLC25A24","SLC32A1","TBC1D24","TP63","TRIM8","WNT10A","WNT7A","ZBTB20"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SHORT_NAIL":{"collection":"C5:HPO","systematicName":"M35452","pmid":"","exactSource":"HP:0001799","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001799","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_NAIL","geneSymbols":["ATP6V0A2","B3GALT6","DPYD","FLNB","GPC3","GPC4","IFT122","IFT43","IHH","LMNA","NOTCH2","NPR2","SOX9","WNT10A","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPOPLASTIC_TOENAILS":{"collection":"C5:HPO","systematicName":"M35453","pmid":"","exactSource":"HP:0001800","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001800","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASTIC_TOENAILS","geneSymbols":["AFF4","ARID1A","ARID1B","ARID2","ATP6V1B2","BAZ1B","BCL7B","BUD23","CLIP2","COL11A1","CPT2","DLL4","DNAJC30","DPF2","DPH1","DPH2","DYNC2LI1","EED","EIF4H","EIF5A","ELN","EOGT","EVC","EVC2","EZH2","FGFR1","FKBP6","FTO","GLI1","GTF2I","GTF2IRD1","GTF2IRD2","HOXA13","HRAS","INPPL1","KDM1A","KRT5","LIG4","LIMK1","METTL27","MLXIPL","MSX1","NCF1","NECTIN4","NOTCH1","NSD1","NSUN2","ODC1","PIGF","PPP1CB","PPP2R5D","PRKACA","PRKACB","RFC2","RIPK4","SCO2","SET","SHANK3","SHOC2","SLC35D1","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SOX11","SOX4","STX1A","SUZ12","TBC1D24","TBL2","TBX3","TBX4","TCTN3","TELO2","TMEM270","VPS37D","WLS","ZIC3","ZMYM2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABSENT_TOENAIL":{"collection":"C5:HPO","systematicName":"M35454","pmid":"","exactSource":"HP:0001802","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001802","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_TOENAIL","geneSymbols":["APC","ARID1A","ATP6V1B2","BCR","COL7A1","CRKL","DSP","GPC4","JUP","KCNH1","KCNN3","KRT14","LRP4","MAPK1","NOTCH1","PIGF","PORCN","WNT7A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NAIL_PITS":{"collection":"C5:HPO","systematicName":"M35455","pmid":"","exactSource":"HP:0001803","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001803","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NAIL_PITS","geneSymbols":["FOXN1","HLA-C","IKBKG","LPAR6","MSX1","TERC","TERT","TINF2","TP63","UFC1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPOPLASTIC_FINGERNAIL":{"collection":"C5:HPO","systematicName":"M35456","pmid":"","exactSource":"HP:0001804","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001804","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASTIC_FINGERNAIL","geneSymbols":["ARHGAP31","ARID1A","ARID1B","ARID2","ATP6V1B2","BMPER","CCDC22","CDKN1C","CENPT","COL11A1","COL11A2","DLL4","DOCK6","DPF2","DPYSL5","EOGT","FBXO28","FGFR2","HMGA2","HYMAI","IGF2","IKBKG","KCNH1","KCNMA1","KCNN3","MBTPS2","MSX1","NOTCH1","PGAP2","PIGF","PIGN","PIGO","PLAG1","PLAGL1","PLEC","PTDSS1","RBPJ","ROR2","RPS6KA3","SHOX","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SOX11","SOX4","TBC1D24","TFAP2A","TWIST2","VPS35L","WASHC5","ZNF462"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ONYCHOGRYPOSIS":{"collection":"C5:HPO","systematicName":"M35457","pmid":"","exactSource":"HP:0001805","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001805","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ONYCHOGRYPOSIS","geneSymbols":["ADAM17","COL7A1","CTSC","DVL1","DVL3","EGFR","FZD2","FZD6","GJB2","GJB6","HPGD","IKBKG","INSR","ITGB4","KLHL24","KRT14","KRT16","KRT17","KRT5","KRT6A","KRT6B","KRT83","LMNA","LORICRIN","PLEC","TP63","WDR19","WNT5A","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ONYCHOLYSIS":{"collection":"C5:HPO","systematicName":"M35458","pmid":"","exactSource":"HP:0001806","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001806","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ONYCHOLYSIS","geneSymbols":["ATR","CAST","CDSN","COL7A1","DSG1","FZD6","GJB6","HLA-C","IFIH1","ITGA3","ITGB4","JUP","KRT14","KRT5","KRT74","KRT85","LAMA3","UROD","WNT10A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RIDGED_NAIL":{"collection":"C5:HPO","systematicName":"M35459","pmid":"","exactSource":"HP:0001807","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001807","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RIDGED_NAIL","geneSymbols":["AARS1","ATP2A2","ATR","CARS1","CTSK","DKC1","EDAR","EDARADD","EFNB1","ERCC2","ERCC3","FERMT1","FOXN1","GJA1","GTF2E2","GTF2H5","IKBKG","KRT14","LMX1B","LPAR6","MPLKIP","MSX1","PORCN","RNF113A","SLC39A4","TARS1","TERC","TERT","TINF2","WNT10A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FRAGILE_NAILS":{"collection":"C5:HPO","systematicName":"M35460","pmid":"","exactSource":"HP:0001808","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001808","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FRAGILE_NAILS","geneSymbols":["AARS1","AP1B1","ATP6V0A2","CAMK2G","CARS1","COL7A1","DLX3","DSP","EFNB1","ERCC2","ERCC3","FTL","GJA1","GTF2E2","GTF2H5","HEPHL1","HRAS","KRT14","LAMB3","LMNA","MPLKIP","MSX1","PRKD1","RNF113A","SIN3A","SIN3B","SLURP1","SMARCD2","TARS1","TRPS1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SPLIT_NAIL":{"collection":"C5:HPO","systematicName":"M35461","pmid":"","exactSource":"HP:0001809","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001809","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPLIT_NAIL","geneSymbols":["AARS1","CARS1","DKC1","EFNB1","ERCC2","ERCC3","GTF2E2","GTF2H5","MPLKIP","RNF113A","TARS1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DYSTROPHIC_TOENAIL":{"collection":"C5:HPO","systematicName":"M35462","pmid":"","exactSource":"HP:0001810","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001810","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DYSTROPHIC_TOENAIL","geneSymbols":["COL17A1","COL7A1","DST","IKBKG","ITGB4","KIF1A","KLHL24","KRT14","KRT5","KRT74","LMNA","NECTIN1","NOTCH1","PERP","RAB7A","RETREG1","RUNX2","SCN9A","SMARCE1","WNK1","WNT10A","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPERCONVEX_FINGERNAILS":{"collection":"C5:HPO","systematicName":"M35463","pmid":"","exactSource":"HP:0001812","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001812","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERCONVEX_FINGERNAILS","geneSymbols":["CPLX1","CTBP1","FGFRL1","LETM1","MBTPS2","NSD2","PLEC","PTDSS1","RPS6KA3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DEEP_SET_NAILS":{"collection":"C5:HPO","systematicName":"M35464","pmid":"","exactSource":"HP:0001814","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001814","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEEP_SET_NAILS","geneSymbols":["EED","EZH2","HRAS","NSD1","SUZ12"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_THIN_NAIL":{"collection":"C5:HPO","systematicName":"M35465","pmid":"","exactSource":"HP:0001816","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001816","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THIN_NAIL","geneSymbols":["ALOX12B","ALOXE3","ANAPC1","CAMK2B","EED","EZH2","HRAS","IFT122","MBTPS2","MSX1","NSD1","RNU12","SUZ12","TRPS1","WNT10A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABSENT_FINGERNAIL":{"collection":"C5:HPO","systematicName":"M35466","pmid":"","exactSource":"HP:0001817","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001817","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_FINGERNAIL","geneSymbols":["APC","ARHGAP31","ARID1A","ARX","ATP6V1B2","BCR","CASK","CDKL5","COL7A1","CRKL","DLL4","DMXL2","DOCK6","DSP","EOGT","FIG4","GNAO1","GRIN1","GRM7","JUP","KCNA1","KCNH1","KCNMA1","KCNN3","LRP4","MAPK1","NEUROD2","NOG","NOTCH1","PIGP","PIGQ","PNKP","PORCN","RBPJ","SCN1B","SCN2A","SIK1","SLC25A22","SLC32A1","TBC1D24","TRIM8"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PARONYCHIA":{"collection":"C5:HPO","systematicName":"M35467","pmid":"","exactSource":"HP:0001818","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001818","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PARONYCHIA","geneSymbols":["ADAM17","BLM","CEBPE","IL6ST","KIF1A","KRT16","KRT17","KRT6A","KRT6B","LAMA3","LAMB3","LAMC2","RETREG1","SCN9A","SLC39A4","STAT3","WNK1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LEUKONYCHIA":{"collection":"C5:HPO","systematicName":"M35468","pmid":"","exactSource":"HP:0001820","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001820","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LEUKONYCHIA","geneSymbols":["ABCA12","ATP2A2","CAST","DSC3","DSP","GJA1","GJB2","KANK2","KIF11","PEX1","PEX6","PLCD1","TRPS1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BROAD_NAIL":{"collection":"C5:HPO","systematicName":"M35469","pmid":"","exactSource":"HP:0001821","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001821","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BROAD_NAIL","geneSymbols":["CLEC7A","FHL1","HPGD","IFT43","IHH","IKBKG","IL17F","IL17RA","IL17RC","TRAF3IP2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_WEIGHT_LOSS":{"collection":"C5:HPO","systematicName":"M35470","pmid":"","exactSource":"HP:0001824","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001824","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WEIGHT_LOSS","geneSymbols":["ABCC8","ABCD1","ACADM","ACAT1","ACTA1","AK2","AKT1","ALS2","AMN","ANKRD55","ANO1","ASXL1","ATM","ATP7A","ATP7B","ATR","ATRIP","ATRX","AVP","BAP1","BCL10","BCL2","BCL6","BCOR","BIRC3","BMP6","BMPR1A","BRCA1","BRCA2","BRIP1","BTK","BTNL2","C4A","CACNA1S","CALR","CBL","CCND1","CCR1","CD244","CD247","CDC73","CDH23","CDKN1A","CDKN1B","CDKN2A","CDKN2B","CDKN2C","CENPE","CENPJ","CEP152","CFTR","CHEK2","CIITA","CNTNAP1","COL4A5","COL4A6","CRLF1","CTLA4","CTNNB1","CTNS","CTRC","CUBN","CUL4B","CYP24A1","DAXX","DCTN1","DIS3L2","DLST","DNA2","DNAJC13","DNMT3A","ECE1","EDN3","EDNRB","EHHADH","EIF4G1","ELF4","EPAS1","EPCAM","ERAP1","ERBB2","ERBB3","ERCC2","ERCC3","ERCC4","ERCC5","EWSR1","F5","FAN1","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FAS","FH","FIP1L1","FLI1","FOXP1","FOXP3","FUS","GABRA3","GALC","GATA2","GATA4","GATM","GBA1","GCK","GDNF","GFAP","GIGYF2","GIPC1","GJA1","GJB3","GJB4","GNPTAB","GPC3","GPR35","H19","HACD1","HAVCR2","HFE","HLA-B","HLA-DPA1","HLA-DPB1","HLA-DQA1","HLA-DQB1","HLA-DRB1","HLCS","HMGCL","HSPG2","HTT","IFIH1","IFNGR1","IKZF1","IL10","IL12A","IL12A-AS1","IL12B","IL23R","IL2RA","IL2RB","IL6","INS","IRF2BP2","IRF4","ITGA7","JAK2","JPH3","KCNJ11","KCNJ18","KDSR","KIF1B","KIT","KLF1","KLRC4","KRAS","KRT1","KRT10","LIG3","LIPA","LMNA","LPIN2","LRP12","LRRK2","MAD2L2","MAFB","MALT1","MAP3K20","MAX","MC2R","MDH2","MECP2","MEFV","MEN1","MLH1","MLH3","MLX","MPL","MRAP","MSH2","MSH6","MST1","MYL2","NAB2","NABP1","NALCN","NBN","NDP","NDUFAF6","NF1","NFKBIL1","NNT","NOD2","NOS1","NOTCH2NLC","NPM1","NRTN","NUMA1","NUP85","P4HA2","PALB2","PALLD","PANK2","PCNT","PDX1","PERCC1","PIK3CA","PIK3R1","PKHD1","PLK4","PML","PMS1","PMS2","POLG","POU6F2","PRKAR1A","PRNP","PRTN3","PSAP","PTEN","PTPN2","PTPN22","RABL3","RAD51","RAD51C","RARA","RB1","RBBP8","REST","RET","RFWD3","RHBDF2","RILPL1","RNF168","RNU7-1","RPS20","RRM2B","RUNX1","SCNN1A","SCNN1B","SCNN1G","SDHA","SDHAF1","SDHAF2","SDHB","SDHC","SDHD","SELENON","SEMA3C","SEMA3D","SEMA4A","SEMA4D","SIGMAR1","SLC11A1","SLC22A4","SLC25A11","SLC2A3","SLC34A1","SLC34A2","SLC39A4","SLC5A1","SLC6A8","SLC9A6","SLX4","SMAD4","SMO","SNCA","SPG11","SPINK1","SPTLC1","SREBF1","SRSF2","STAR","STAT1","STAT3","STAT4","STAT5B","STAT6","STUB1","SUCLA2","SYK","TBL1XR1","TCF4","TERT","TET2","TGFB1","TGFBR2","THPO","TLR4","TMEM127","TP53","TPM2","TPM3","TRAIP","TRIM28","TRIM37","TRIP13","TRPV4","TSHR","TTR","TWNK","TXNRD2","TYMP","UBAC2","UBE2T","UNC45A","UNC80","VHL","VPS13A","VPS35","WT1","XRCC2","ZBTB16","ZMPSTE24","ZNRF3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_GENITAL_TRACT_ATRESIA":{"collection":"C5:HPO","systematicName":"M47052","pmid":"","exactSource":"HP:0001827","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001827","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENITAL_TRACT_ATRESIA","geneSymbols":["ARL6","BBS1","BBS12","CCDC28B","DYNC2LI1","FGFR2","FRAS1","FREM1","FREM2","GATA3","GRIP1","ITGA8","KIF14","MKKS","POR","RSPO2","WNT3","WT1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_POSTAXIAL_FOOT_POLYDACTYLY":{"collection":"C5:HPO","systematicName":"M35471","pmid":"","exactSource":"HP:0001830","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001830","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POSTAXIAL_FOOT_POLYDACTYLY","geneSymbols":["ARL6","B9D1","B9D2","BBS1","BBS12","BBS2","BBS9","BMP4","C2CD3","CC2D2A","CCDC28B","CD96","CEP120","CEP290","CIBAR1","CSPP1","DDX59","DHCR7","DYNC2H1","DYNC2I1","DYNC2I2","DYNC2LI1","DYNLT2B","EVC","EVC2","EXTL3","GLI3","HOXD13","IFT140","IFT172","IFT27","IFT74","IFT80","INPP5E","IQCE","KIAA0753","KIAA0825","KIF7","LBR","LMBR1","LZTFL1","MKKS","MKS1","NEK1","NPHP3","OTUD5","PDE6D","PLAA","PRKACB","RPGRIP1","RPGRIP1L","SC5D","SCNM1","SETD5","SMO","SMOC1","SUFU","TCTN1","TCTN2","TCTN3","TMEM107","TMEM216","TMEM231","TMEM237","TMEM67","TTC21B","TXNDC15","WDR19","ZNF141"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SHORT_TOE":{"collection":"C5:HPO","systematicName":"M46066","pmid":"","exactSource":"HP:0001831","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001831","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_TOE","geneSymbols":["ABCC9","ACVR1","ADA","ADAMTS2","ADNP","ALMS1","ALOX12B","ALOXE3","ARSL","ASAH1","ASXL1","B3GLCT","BHLHA9","BMP2","BMPR1B","BPNT2","C12orf57","CHD7","CHST11","CHSY1","COL2A1","COX4I1","CPLX1","CTBP1","DCLRE1C","DHCR7","DNMT3A","DYRK1A","EIF4A3","EOGT","EP300","FGFR1","FGFR2","FGFR3","FGFRL1","FIG4","FLI1","FLNA","GDF5","GHR","GJA1","GNAS","GPC3","GPC4","GPX4","GRIP1","HBA1","HBA2","HDAC4","HEATR3","HOXA13","HOXD13","IFT122","IFT140","IHH","IL2RG","IL7R","KAT6A","KCNH1","KCNJ8","KMT2A","LETM1","LIG4","MGP","MIA3","MYCN","NELFA","NOG","NOTCH2","NPR2","NSD2","OFD1","PDE4D","PHF6","PIGF","PIGG","PIGV","PRKAR1A","PRKG2","PTH1R","PUF60","RAB3GAP2","RAG1","RAG2","RBPJ","RMRP","RNU4ATAC","ROBO1","SALL4","SF3B4","SHOX","SLC26A2","SMAD4","SOX9","SPECC1L","SVBP","TBL1XR1","TBX22","TBX3","TGDS","TNNT3","TPR","TRPV4","VAC14","WASF1","ZMIZ1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_METATARSAL_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M35473","pmid":"","exactSource":"HP:0001832","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001832","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_METATARSAL_MORPHOLOGY","geneSymbols":["ABCC9","ACVR1","ADAMTS10","AKT1","ANKRD55","ATL3","B3GALNT2","B3GALT6","B3GAT3","B3GLCT","B4GAT1","BMPR1B","CANT1","CD247","CDC42BPB","CHST3","CHSY1","COG4","COL2A1","COL4A1","CPLX1","CRPPA","CTBP1","DAG1","DCHS1","DDR2","DHCR24","DHCR7","DLK1","DYM","EP300","ERCC6","EZH2","FAT4","FBLN1","FBN1","FBN2","FGF9","FGFR1","FGFR2","FGFRL1","FIBP","FIG4","FKRP","FKTN","FLNA","FLNB","GDF5","GLI3","GNAS","GUSB","HDAC4","HEPHL1","HINT1","HOXA13","HOXD13","HSPG2","IFIH1","IFT140","IFT52","IHH","IL2RA","IL2RB","INPP5K","IQCE","KCNJ2","KIF22","KNSTRN","LARGE1","LETM1","LIG4","LMBR1","LMNB2","LRP5","LZTFL1","MAFB","MAP3K20","MAP3K7","MAPK1","MEG3","MET","MMP2","MYH8","NAA10","NALCN","NEK1","NPR2","NSD2","NSUN2","PDE4D","PEX1","PEX2","PEX5","PEX7","PHYH","PIEZO2","PIGS","PIK3CD","POC1A","POMGNT1","POMGNT2","POMK","POMT1","POMT2","POR","PORCN","PRG4","PRKAR1A","PRKG2","PRMT7","PTEN","PTH1R","PTHLH","PTPN2","PTPN22","RAB23","RAB33B","RAB3GAP2","RBPJ","RIPK4","RSPRY1","RTL1","RXYLT1","SALL1","SH3PXD2B","SHOX","SIL1","SKI","SLC26A2","SLC35A2","SMARCA2","SMOC1","SOX9","SRY","STAT4","TCF4","TGDS","TNNI2","TNNT3","TP63","TRPS1","TRPV4","TTC26","TUBB3","TWIST1","UBE3B","VAC14","VPS13B","VPS35L","WDR26","WNT7A","ZBTB20","ZNF407"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LONG_FOOT":{"collection":"C5:HPO","systematicName":"M35474","pmid":"","exactSource":"HP:0001833","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001833","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LONG_FOOT","geneSymbols":["AGPAT2","AIP","ASNS","BSCL2","CAV1","CAVIN1","EED","FIBP","FLNA","FOS","HERC1","INSR","KMT5B","MEN1","NF1","NSD1","PACS1","PDGFRB","PIGL","POLR3A","PPARG","RNU4ATAC","RPS6KA3","SETD2","SIM1","SUZ12","UBE3B","UPF3B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CAMPTODACTYLY_OF_TOE":{"collection":"C5:HPO","systematicName":"M35475","pmid":"","exactSource":"HP:0001836","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001836","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CAMPTODACTYLY_OF_TOE","geneSymbols":["BCOR","CHRNG","DSP","FGFR3","FHL1","FLNA","GLI3","IPO8","JUP","MMP2","MYL11","PHF6","PIEZO2","PPP2R5D","PRG4","SCARF2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BROAD_TOE":{"collection":"C5:HPO","systematicName":"M35476","pmid":"","exactSource":"HP:0001837","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001837","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BROAD_TOE","geneSymbols":["ABCC9","ACAN","ADNP","ALDH6A1","ASPH","BCOR","BMP2","BMPR1B","BPTF","C2CD3","CCDC22","CHST11","COL2A1","CREBBP","CSNK2A1","DLX5","DNM1L","DVL1","EBP","EFNB1","EP300","FGF9","FGFR1","FGFR2","FGFR3","FLNA","GATA6","GDF5","GJA5","GJA8","GLI3","GPC3","GPC4","HNRNPR","HOXD13","HPGD","IFT122","IL11RA","KCNH1","KIAA0753","KMT2B","KMT2D","LBR","LRP4","MED12","MEIS2","NAA10","NBAS","NEK1","NKX2-5","NKX2-6","NOG","NPR2","NXN","PDE4D","PIGL","PIGO","PPP2R1A","PRKG2","PUF60","PYCR2","RHOA","ROR2","SATB2","SCNM1","SETBP1","SF3B4","SIAH1","SMARCA2","SMC1A","SUMF1","TAF6","TBCK","TBX1","TNNT3","TRPM3","TWIST1","UBE2A","USP9X","WDPCP","WNT5A","ZEB2","ZMIZ1","ZMYM2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SPLIT_FOOT":{"collection":"C5:HPO","systematicName":"M35477","pmid":"","exactSource":"HP:0001839","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001839","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPLIT_FOOT","geneSymbols":["DLX5","FGFR2","GLI3","MAP3K20","PORCN","TP63","UBA2","WNT10B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_METATARSUS_ADDUCTUS":{"collection":"C5:HPO","systematicName":"M35478","pmid":"","exactSource":"HP:0001840","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001840","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_METATARSUS_ADDUCTUS","geneSymbols":["B3GALT6","B3GAT3","CHST3","CPLX1","CTBP1","DDR2","DHCR24","DHCR7","DLK1","EZH2","FBN1","FBN2","FGFRL1","FIBP","FIG4","GLI3","GUSB","LETM1","LIG4","LMNB2","MAPK1","MEG3","MET","MYH8","NALCN","NSD2","NSUN2","PEX1","PEX2","PEX5","PIEZO2","RAB23","RAB3GAP2","RTL1","SH3PXD2B","SKI","SLC26A2","SLC35A2","SOX9","TNNI2","TNNT3","TRPV4","TUBB3","UBE3B","VAC14","WDR26","ZBTB20"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PREAXIAL_FOOT_POLYDACTYLY":{"collection":"C5:HPO","systematicName":"M35479","pmid":"","exactSource":"HP:0001841","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001841","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PREAXIAL_FOOT_POLYDACTYLY","geneSymbols":["CPLANE1","CPLX1","CTBP1","FGFR2","FGFRL1","GLI3","HOXD13","IFT172","KIF7","LETM1","LMBR1","MEGF8","NEK1","NSD2","PITX1","RAB23","SMO","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FOOT_ACROOSTEOLYSIS":{"collection":"C5:HPO","systematicName":"M35480","pmid":"","exactSource":"HP:0001842","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001842","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOOT_ACROOSTEOLYSIS","geneSymbols":["COL3A1","KIF1A","LMNA","NOTCH2","RETREG1","SCN9A","WNK1","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_HALLUX_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M35481","pmid":"","exactSource":"HP:0001844","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001844","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_HALLUX_MORPHOLOGY","geneSymbols":["ABCC9","ACAN","ACTB","ACVR1","ADNP","AEBP1","AKT1","ALDH6A1","ASPH","ATL3","ATP6V1B2","B3GALT6","B3GAT3","BAZ1B","BCL7B","BCOR","BHLHA9","BMP2","BMPR1B","BPTF","BUD23","C2CD3","CANT1","CCDC22","CDKL5","CHST11","CHST3","CHSY1","CLIP2","COL1A1","COL1A2","COL2A1","CPLANE1","CPLX1","CREBBP","CSNK2A1","CTBP1","CTCF","CWC27","DACT1","DLX5","DNAJC30","DNM1L","DPM1","DYRK1A","EBP","EFNB1","EIF4A3","EIF4H","ELN","EP300","ERF","ERMARD","FAM20C","FGF9","FGFR1","FGFR2","FGFR3","FGFRL1","FHL1","FIBP","FIG4","FKBP6","FLI1","FLNA","GATA4","GATA6","GBA1","GCH1","GDF5","GJA1","GJA5","GJA8","GLI3","GNAI1","GNE","GPC4","GTF2I","GTF2IRD1","GTF2IRD2","H4C9","HEATR3","HNRNPR","HOXA13","HOXD13","HSPB1","HSPB8","HYLS1","IFT122","IFT172","IHH","IL11RA","IMPDH2","ITCH","KAT6A","KAT6B","KCNH1","KCNJ8","KCNMA1","KCNN3","KIAA0753","KIF7","KMT2A","KMT2B","KMT2D","LBR","LETM1","LIMK1","LMBR1","LRP4","MAP3K20","MED12","MEGF8","MEIS2","METTL27","MFN2","MGP","MLXIPL","MYH3","NAA10","NBAS","NCF1","NEK1","NELFA","NFIX","NKX2-5","NKX2-6","NKX3-2","NOG","NONO","NPR2","NPR3","NR4A2","NSD2","NUP107","NXN","PCDHGC4","PDE4D","PIGG","PIGO","PITX1","POLR3GL","PPP2R1A","PRDM5","PRKAR1A","PSMB8","PTEN","PTH1R","PTHLH","PTRH2","PUF60","PYCR2","RAB23","RBBP8","RFC2","RHOA","ROBO1","ROR2","SALL1","SALL4","SATB2","SCARF2","SCNM1","SETBP1","SF3B4","SIAH1","SLC16A2","SLC29A3","SMARCA2","SMC1A","SMO","SMS","SOX5","SOX9","SRY","STX1A","SUMF1","TAF6","TBC1D2B","TBL2","TBR1","TBX1","TCF12","TMEM270","TNNT3","TP63","TPR","TRPM3","TTI2","TWIST1","UBE2A","USP7","USP9X","VAC14","VPS37D","WDPCP","YY1","ZEB2","ZMIZ1","ZNF469","ZNF668","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_OVERLAPPING_TOE":{"collection":"C5:HPO","systematicName":"M35482","pmid":"","exactSource":"HP:0001845","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001845","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OVERLAPPING_TOE","geneSymbols":["ARX","ASXL1","ATN1","ATP6V1E1","BLTP1","BPTF","CCDC22","CCDC47","CDC42","CHST11","CPLX1","CREBBP","CTU2","DDX6","DHCR7","DLK1","EBP","EP300","EXT2","EZH2","FGFR2","GDF6","GJA5","GJA8","GLI3","HNRNPK","HUWE1","INTS1","INTS8","KAT8","MAPK1","MED12","MED25","MEG3","MYOD1","NEK9","OTUD6B","PCGF2","PDZD8","PIEZO2","PPP1R21","PUF60","RAB11B","RAB3GAP1","RAB3GAP2","RSPRY1","RTL1","SETBP1","SF3B4","SIN3A","SLC35C1","SLC6A9","SMAD4","SNRPN","SOD1","SOX5","TCF4","TELO2","THOC6","TMCO1","TMEM260","TMEM94","TPM2","UBE2A","USP9X","WIPI2","XYLT2","ZNF407"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LONG_HALLUX":{"collection":"C5:HPO","systematicName":"M35483","pmid":"","exactSource":"HP:0001847","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001847","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LONG_HALLUX","geneSymbols":["DPM1","FAM20C","FIBP","FLI1","GNAI1","GNE","KAT6B","KCNH1","KCNN3","KMT2A","NKX3-2","NPR2","NPR3","POLR3GL","PRKAR1A","PTH1R","SCARF2","SMS","SOX5","ZEB2","ZNF668"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FOOT_OLIGODACTYLY":{"collection":"C5:HPO","systematicName":"M35484","pmid":"","exactSource":"HP:0001849","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001849","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOOT_OLIGODACTYLY","geneSymbols":["APC","DLL4","DLX5","GLI3","LRP4","PORCN","SF3B4","SMOC1","WNT10B","WNT7A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_TARSAL_BONES":{"collection":"C5:HPO","systematicName":"M35485","pmid":"","exactSource":"HP:0001850","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001850","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_TARSAL_BONES","geneSymbols":["AARS1","ADAMTSL1","ADAT3","AEBP1","ARID1B","ATP6AP2","ATP7A","ATPAF2","BAP1","BMPR1B","CANT1","CCDC8","CHRNG","CHSY1","CLTCL1","COASY","COL11A2","COL1A2","COL25A1","COL2A1","CUL7","DLK1","DOK7","DPH5","DYM","EBP","ECEL1","EIF2AK3","EMG1","EN1","EPB41L1","ERCC1","ERCC2","ERCC5","ERCC6","ERGIC1","EXOC7","EXT1","EXT2","EZH2","FBLN1","FBN1","FGFR1","FGFR2","FGFR3","FIG4","FLNA","FLNB","GDF5","GDF6","GFM2","GJB2","GJB6","GLE1","GLI3","GPX4","H4C9","HADHA","HADHB","HDAC6","HOXA13","HOXD10","HOXD13","INPPL1","IPO8","KANSL1","KATNB1","KIF14","LBR","LEMD3","LMBR1","LMNA","MAF","MAFB","MAGEL2","MAP3K7","MATN3","MEG3","MET","MKKS","MMP14","MMP2","MUSK","MYBPC1","MYH3","MYL11","NALCN","NDE1","NGLY1","NOG","NUP188","NUP88","OBSL1","OFD1","OTUD5","PEX1","PHEX","PHGDH","PLAA","POR","PSAT1","PTH1R","PUF60","RAB33B","RBM10","RELN","RNU12","RSPRY1","RTL1","SAMD9","SATB2","SCYL2","SLC29A3","SLC2A10","SLC35D1","SMOC1","SMPD4","SOX4","SYT1","TBX4","TELO2","TNNI2","TNNT3","TOR1A","TPM2","VAC14","WNT7A","WRN","ZC4H2","ZEB2","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SANDAL_GAP":{"collection":"C5:HPO","systematicName":"M35486","pmid":"","exactSource":"HP:0001852","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001852","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SANDAL_GAP","geneSymbols":["ABL1","ADNP","AEBP1","ALG12","ARID1A","ARID1B","ATR","ATRIP","B3GAT3","BCOR","BCR","BMP2","BPTF","CANT1","CENPE","CENPJ","CEP152","CHST11","CHST3","CILK1","COL11A2","COL1A2","COX7B","CREBBP","CRKL","CTCF","CUL4B","DCPS","DDX59","DNA2","DPM1","DSP","EED","EFNB1","EP300","ESCO2","EZH2","FBXO11","FBXW11","FLNA","FLNB","GALNT2","GATA1","GMNN","H4C9","HEATR3","HERC2","IFT43","IFT52","IFT57","IGF1R","KAT6A","LIG4","LTBP4","MAN2C1","MAPK1","MBD5","MEIS2","MTX2","NAA10","NBAS","NBN","NSD1","NSUN2","NUP85","NXN","PCNT","PIEZO2","PIK3CA","PLK4","PRKG2","RAI1","RBBP8","RFX7","RHOA","ROR2","SALL4","SATB1","SETBP1","SETD5","SLC26A2","SMARCA2","SMARCD2","SMARCE1","SMOC1","SUZ12","SVIL","TBX4","TCF20","TNNT3","TRAIP","TRIO","TRIP12","VPS13B","YY1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_TOE_CLINODACTYLY":{"collection":"C5:HPO","systematicName":"M35489","pmid":"","exactSource":"HP:0001863","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001863","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TOE_CLINODACTYLY","geneSymbols":["ALG3","ATP2B1","CKAP2L","COG8","DACT1","DLEC1","EZH2","FLI1","FLNA","FRA10AC1","HEPHL1","HNRNPR","KCNJ2","KCNJ5","NOG","PIGH","RAB3GAP2","RFX7","RNF6","RSPRY1","SALL1","SATB2","TGFBR2","WWOX","XYLT1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CLINODACTYLY_OF_THE_5TH_TOE":{"collection":"C5:HPO","systematicName":"M35490","pmid":"","exactSource":"HP:0001864","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001864","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CLINODACTYLY_OF_THE_5TH_TOE","geneSymbols":["ALG3","CKAP2L","DLEC1","FRA10AC1","HEPHL1","KCNJ2","KCNJ5","PIGH","RAB3GAP2","RNF6","SALL1","TGFBR2","WWOX"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DEEP_PLANTAR_CREASES":{"collection":"C5:HPO","systematicName":"M35491","pmid":"","exactSource":"HP:0001869","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001869","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEEP_PLANTAR_CREASES","geneSymbols":["ABCC9","AIP","ASXL1","ATP6V0A2","ATP6V1B2","CREBBP","EP300","ERCC6","GPR101","HNRNPK","HRAS","KCNH1","KCNJ8","KCNMA1","KCNN3","MTOR","PIGN","PIGQ","PRKD1","TBL1XR1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_BLOOD_AND_BLOOD_FORMING_TISSUES":{"collection":"C5:HPO","systematicName":"M47053","pmid":"","exactSource":"HP:0001871","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001871","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_BLOOD_AND_BLOOD_FORMING_TISSUES","geneSymbols":["AAGAB","AARS1","AASS","ABCA1","ABCB6","ABCB7","ABCC2","ABCC6","ABCC8","ABCC9","ABCD3","ABCD4","ABCG8","ABHD5","ABL1","ACAD8","ACAD9","ACAT1","ACD","ACP5","ACSL4","ACTA1","ACTA2","ACTC1","ACTN1","ACTN2","ACTN4","ACVR1","ACVRL1","ADA","ADA2","ADAM17","ADAMTS13","ADAMTS2","ADAMTS3","ADAMTSL2","ADAR","ADH5","ADK","AEBP1","AGA","AGGF1","AGK","AGR2","AGXT","AHCY","AICDA","AIP","AK1","AK2","AKR1D1","AKT1","ALAD","ALAS2","ALB","ALDOA","ALDOB","ALG1","ALG12","ALG13","ALG2","ALG3","ALG6","ALG8","ALPK1","ALPL","ALX4","AMACR","AMMECR1","AMN","ANAPC1","ANGPTL6","ANK1","ANKRD1","ANKRD11","ANKRD26","ANKRD55","ANO6","AP1S3","AP3B1","AP3D1","APC","APC2","APOB","APOE","APP","APPL1","ARF1","ARFGEF2","ARHGAP26","ARHGAP31","ARHGEF1","ARL6IP6","ARMC5","ARPC1B","ARVCF","ASAH1","ASXL1","ATM","ATOH7","ATP11A","ATP11C","ATP5F1A","ATP6AP1","ATP6AP2","ATP6V0A2","ATP6V1A","ATP6V1B2","ATP6V1E1","ATP7A","ATP7B","ATP8B1","ATPAF2","ATR","ATRX","B2M","B3GALT6","B4GALT1","BACH2","BAG3","BAG5","BANK1","BAP1","BAX","BCL10","BCL11A","BCL11B","BCL2","BCL6","BCOR","BCR","BEST1","BGN","BICD2","BIRC3","BLK","BLM","BLNK","BLOC1S3","BLOC1S5","BLOC1S6","BMPR1A","BMPR2","BMS1","BPGM","BRAF","BRCA1","BRCA2","BRCC3","BRD4","BRIP1","BSCL2","BTK","BTNL2","BUB1","BUB1B","BUB3","C1GALT1C1","C1QB","C1R","C1S","C2","C2orf69","C3","C4A","C4B","CA2","CACNA1D","CACNA1S","CAD","CALR","CAMK2B","CAP2","CAPN3","CAPN5","CARD10","CARD11","CARD9","CARMIL2","CARS1","CASK","CASP10","CASP8","CASR","CAT","CAVIN1","CBL","CBLIF","CBS","CCBE1","CCM2","CCND1","CCR1","CD109","CD19","CD247","CD27","CD28","CD36","CD3D","CD3E","CD3G","CD4","CD40","CD40LG","CD46","CD55","CD59","CD70","CD79A","CD79B","CD81","CD8A","CDAN1","CDC40","CDC42","CDC42BPB","CDCA7","CDH23","CDIN1","CDKN1A","CDKN1B","CDKN2A","CDKN2B","CDKN2C","CDSN","CEBPA","CEBPE","CEL","CELA2A","CEP57","CFB","CFH","CFHR1","CFHR3","CFI","CFTR","CHD7","CHEK2","CHIC2","CHST14","CIITA","CISD2","CITED2","CLCN2","CLCN7","CLCNKB","CLN3","CLN5","CLPB","CLPX","CNBP","COA8","COG1","COG2","COG4","COG6","COG8","COL14A1","COL17A1","COL1A1","COL1A2","COL2A1","COL3A1","COL4A1","COL4A2","COL4A5","COL5A1","COL5A2","COL7A1","COMT","COPA","COQ2","CORIN","CORO1A","COX10","COX16","COX4I2","CP","CPA1","CPOX","CPT2","CR2","CREB3L1","CREBBP","CRIPT","CRYAB","CSF3R","CSNK2A1","CSRP3","CST3","CTC1","CTCF","CTLA4","CTNNB1","CTNNBL1","CTPS1","CTRC","CUBN","CXCR2","CXCR4","CYB561","CYB5A","CYB5R3","CYBA","CYBB","CYBC1","CYCS","CYP11B1","CYP11B2","CYP26C1","CYP2A6","CYP2C9","CYP4F22","CYP7B1","CYSLTR2","DAXX","DBH","DCDC2","DCLRE1B","DCLRE1C","DDOST","DDX41","DEF6","DES","DGCR2","DGCR6","DGCR8","DGKE","DGUOK","DHFR","DHPS","DIAPH1","DKC1","DLD","DLL4","DLST","DMD","DMXL2","DNAJC19","DNAJC21","DNAJC3","DNASE1","DNASE1L3","DNASE2","DNM1L","DNM2","DNMT3A","DNMT3B","DOCK2","DOCK6","DOCK8","DOLK","DPAGT1","DPM1","DPM2","DPP9","DSE","DSG1","DSG2","DSP","DST","DTNBP1","DUT","DYNC2LI1","DZIP1L","EDNRB","EFEMP1","EFL1","EGFR","EGLN1","EIF2AK3","EIF2AK4","ELANE","ELF4","ELMO2","ELN","EMILIN1","ENG","ENPP1","EOGT","EP300","EPAS1","EPB41","EPB42","EPCAM","EPG5","EPHB2","EPHB4","EPO","EPOR","EPX","ERAP1","ERBB3","ERCC2","ERCC3","ERCC4","ERCC6","ERCC6L2","ERCC8","ERMARD","ESCO2","ESS2","ETHE1","ETS1","ETV6","EVC","EVC2","EWSR1","EXT2","EXTL3","F10","F11","F12","F13A1","F13B","F2","F5","F7","F8","F9","FADD","FAH","FAM111A","FAN1","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FARS2","FARSA","FARSB","FAS","FASLG","FAT4","FBN1","FBXL4","FBXW7","FCGR2A","FCGR2B","FCGR2C","FCGR3A","FCGR3B","FCHO1","FDX2","FECH","FERMT1","FERMT3","FGA","FGB","FGF23","FGFR2","FGG","FH","FHL2","FIBP","FIG4","FIP1L1","FKBP10","FKBP14","FKTN","FLI1","FLNA","FLNC","FLT1","FLT3","FMO3","FN1","FNIP1","FOCAD","FOXE3","FOXN1","FOXP1","FOXP2","FOXP3","FTCD","FTH1","FUCA1","FUT8","FYB1","FZD4","G6PC1","G6PC3","G6PD","GAA","GALC","GALNT2","GALT","GATA1","GATA2","GATA3","GATA4","GATA5","GATA6","GATAD1","GATB","GATC","GBA1","GCDH","GCK","GCLC","GDF2","GFI1","GFI1B","GGCX","GIMAP5","GINS1","GJA5","GLA","GLB1","GLI1","GLRX5","GNA11","GNA14","GNAQ","GNAS","GNB1","GNB2","GNE","GP1BA","GP1BB","GP6","GP9","GPC3","GPC4","GPI","GPR35","GPX1","GREM1","GSN","GSR","GSS","GTF2E2","GTF2H5","GUCY1A1","GYPC","H4C9","HABP2","HADH","HADHB","HAMP","HAND2","HAVCR2","HAX1","HBA1","HBA2","HBB","HBD","HBG1","HBG2","HCK","HEATR3","HELLPAR","HELLS","HEY2","HIRA","HK1","HLA-B","HLA-DPA1","HLA-DPB1","HLA-DQA1","HLA-DQB1","HLA-DRB1","HLCS","HMCN1","HMGCL","HMOX1","HNF1A","HNF4A","HOXA11","HPGD","HPRT1","HPS1","HPS3","HPS4","HPS5","HPS6","HRG","HSCB","HSD17B10","HSD3B7","HSPA9","HTRA2","HYOU1","ICOS","IDH1","IDH2","IFIH1","IFNG","IFNGR1","IFT140","IGHG1","IGHG2","IGHM","IGKC","IGLL1","IKBKB","IKBKG","IKZF1","IKZF3","IKZF5","IL10","IL10RA","IL12A","IL12A-AS1","IL12B","IL12RB1","IL17RA","IL18BP","IL1RN","IL21","IL21R","IL23R","IL2RA","IL2RB","IL2RG","IL36RN","IL37","IL4R","IL6R","IL6ST","IL7","IL7R","INS","IPO8","IRAK1","IRAK4","IREB2","IRF2BP2","IRF4","IRF5","IRF8","IRX5","ISCU","ITCH","ITGA2","ITGA2B","ITGAM","ITGB2","ITGB3","ITGB4","ITK","IVD","IVNS1ABP","JAGN1","JAK1","JAK2","JAK3","JAM2","JAZF1","JMJD1C","JPH2","KANSL1","KARS1","KCNA5","KCNE1","KCNE2","KCNE5","KCNJ1","KCNJ11","KCNJ2","KCNJ3","KCNJ5","KCNK3","KCNN4","KCNQ1","KDM6A","KHK","KIAA0319L","KIF11","KIF15","KIF1B","KIF20A","KIF23","KIT","KLF1","KLF11","KLHDC8B","KLKB1","KLRC4","KMT2D","KNG1","KNSTRN","KRAS","KRIT1","KRT1","KRT14","KRT5","KRT74","KRT9","LACC1","LAMA3","LAMA4","LAMB2","LAMB3","LAMC2","LAMTOR2","LARS1","LARS2","LAT","LBR","LCAT","LCK","LCP2","LDB3","LEP","LEPR","LIG1","LIG3","LIG4","LIPA","LMAN1","LMBRD1","LMNA","LMNB2","LMOD2","LMX1B","LOX","LPIN1","LPIN2","LPP","LRBA","LRP5","LRPPRC","LRRC8A","LSM11","LYRM7","LYST","LZTR1","MAD2L2","MADD","MAGT1","MALT1","MAN2B1","MAP1B","MAP2K1","MAP2K2","MAPK1","MARS1","MARS2","MAT2A","MAX","MBD4","MCFD2","MCM10","MCM4","MDH2","MDM2","MDM4","MECOM","MECP2","MED12","MEFV","MEN1","MET","MFAP5","MGAT2","MICOS13","MICU1","MLH1","MLH3","MLLT10","MLX","MMAA","MMAB","MMACHC","MMADHC","MMEL1","MMP1","MMUT","MOGS","MPDU1","MPI","MPIG6B","MPL","MPLKIP","MPO","MRAS","MRPS7","MRTFA","MS4A1","MS4A2","MSH2","MSH6","MSN","MST1","MT-CO1","MT-CO2","MT-CO3","MT-CYB","MT-ND1","MT-ND4","MT-ND5","MT-ND6","MT-TF","MT-TH","MT-TL1","MT-TN","MT-TQ","MT-TS1","MT-TS2","MT-TW","MTAP","MTHFD1","MTHFR","MTOR","MTR","MTRR","MTTP","MTX2","MUC1","MUC5B","MVK","MYBPC3","MYC","MYD88","MYH11","MYH6","MYH7","MYH9","MYL4","MYLK","MYORG","MYPN","MYRF","MYSM1","NAA10","NABP1","NAE1","NAF1","NAGA","NAGS","NARS2","NAXD","NBAS","NBEAL2","NBN","NCAPG2","NCF1","NCF2","NCF4","NCKAP1L","NDE1","NDP","NDUFA6","NDUFB7","NEDD4L","NEU1","NEUROD1","NEXN","NF1","NF2","NFATC2","NFE2L2","NFIA","NFIX","NFKB1","NFKB2","NFKBIA","NFS1","NGLY1","NHEJ1","NHLRC2","NHP2","NIPBL","NKX2-5","NKX2-6","NLRC4","NLRP1","NLRP12","NLRP3","NOD2","NOP10","NOS3","NOTCH1","NOTCH3","NPC1","NPC2","NPHP1","NPHP4","NPM1","NPPA","NR1H4","NR3C1","NRAS","NSD1","NSMCE2","NSMCE3","NSUN2","NT5C3A","NTHL1","NTRK1","NUMA1","NUP155","NUP214","NUTM1","OAS1","OBSCN","OCLN","OCRL","OPA1","ORAI1","OSTM1","OTC","OTUD5","OTULIN","P2RY12","P4HA2","PACS2","PALB2","PANK2","PARN","PAX2","PAX4","PBX1","PCCA","PCCB","PCNT","PDCD1","PDCD10","PDE11A","PDGFB","PDGFRA","PDGFRB","PDX1","PEPD","PET100","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PFKM","PGK1","PGM1","PGM3","PHF21A","PHGDH","PHKA2","PHKB","PHKG2","PI4KA","PICALM","PIEZO1","PIGA","PIGL","PIGM","PIGT","PIK3CA","PIK3CD","PIK3CG","PIK3R1","PITX2","PKHD1","PKLR","PLA2G4A","PLA2G7","PLAU","PLCG2","PLEC","PLEKHM1","PLG","PLN","PLOD1","PLOD3","PLVAP","PML","PMM2","PMS1","PMS2","PNP","PNPLA2","PNPO","POLE","POLG","POLRMT","POMP","POT1","POU2AF1","PPCS","PPIL1","PPOX","PPT1","PRDM16","PRDM5","PRDX1","PRF1","PRIM1","PRKACA","PRKACB","PRKACG","PRKAR1A","PRKCD","PRKCSH","PRKDC","PRKG1","PRLR","PROC","PRORP","PROS1","PRPS1","PRSS1","PRSS2","PRTN3","PSAP","PSEN1","PSEN2","PSMB4","PSMB8","PSMB9","PSMC1","PSMG2","PSTPIP1","PTEN","PTF1A","PTH1R","PTPN11","PTPN2","PTPN22","PTPRC","PUF60","PUS1","PXK","PYCR1","QRSL1","RAB27A","RAC2","RACGAP1","RAD50","RAD51","RAD51C","RAD54B","RAD54L","RAF1","RAG1","RAG2","RANBP2","RARA","RASA1","RASA2","RASGRP1","RASGRP2","RB1","RBCK1","RBM10","RBM20","RBM8A","RBPJ","RECQL","RECQL4","REL","RELB","REN","RET","RFT1","RFWD3","RFX5","RFXANK","RFXAP","RHAG","RHBDF2","RHCE","RHD","RHOH","RIN2","RINT1","RIPK1","RIT1","RMRP","RNASEH2A","RNASEH2B","RNASEH2C","RNF113A","RNF168","RNF43","RNU4ATAC","RNU7-1","RPA1","RPGRIP1L","RPL11","RPL13","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL3L","RPL5","RPL8","RPL9","RPS10","RPS14","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS7","RPSA","RRAS","RRAS2","RREB1","RRM2B","RS1","RTEL1","RUNX1","RYR1","SAA1","SALL4","SAMD9","SAMD9L","SAMHD1","SAR1B","SARS2","SASH3","SAT1","SBDS","SC5D","SCARB2","SCN10A","SCN11A","SCN1B","SCN2B","SCN3B","SCN4B","SCN5A","SCN9A","SDHA","SDHAF2","SDHB","SDHC","SDHD","SEC23B","SEC24C","SEC61A1","SEC63","SEMA4A","SEMA4D","SERAC1","SERPINA6","SERPINC1","SERPIND1","SERPINE1","SERPINF2","SETBP1","SETD2","SETX","SF3B1","SFTPA2","SFTPC","SFXN4","SGCD","SGCG","SGPL1","SH2B3","SH2D1A","SH3GL1","SH3KBP1","SHOC2","SHPK","SIK3","SIN3A","SKIC2","SKIC3","SLC11A2","SLC12A3","SLC17A5","SLC19A1","SLC19A2","SLC20A2","SLC25A10","SLC25A11","SLC25A13","SLC25A15","SLC25A21","SLC25A38","SLC27A4","SLC29A3","SLC2A1","SLC2A10","SLC30A10","SLC35A1","SLC35C1","SLC37A4","SLC39A13","SLC39A4","SLC39A7","SLC40A1","SLC46A1","SLC4A1","SLC4A2","SLC4A4","SLC51A","SLC5A2","SLC5A6","SLC7A7","SLCO2A1","SLF2","SLFN14","SLX4","SMAD2","SMAD3","SMAD4","SMARCAL1","SMARCB1","SMARCD2","SMARCE1","SMC5","SMO","SMPD1","SNORD118","SNX10","SOCS1","SON","SOS1","SOS2","SP110","SPARC","SPATA5","SPI1","SPIB","SPINK1","SPINK5","SPP1","SPPL2A","SPRED1","SPRED2","SPTA1","SPTB","SRC","SRD5A3","SREBF1","SRP19","SRP54","SRP72","SRSF2","SSR4","STAT1","STAT2","STAT3","STAT4","STAT5B","STEAP3","STIM1","STING1","STK11","STK4","STN1","STOX1","STS","STT3A","STT3B","STX11","STXBP1","STXBP2","SUCLA2","SUFU","SURF1","SYK","TAF1A","TAFAZZIN","TAL1","TAL2","TALDO1","TAOK1","TARS1","TBC1D24","TBCE","TBK1","TBL1XR1","TBX1","TBX2","TBX21","TBXA2R","TBXAS1","TCAP","TCF3","TCF4","TCIRG1","TCN2","TDP2","TEK","TERC","TERT","TET2","TF","TFR2","TFRC","TGFB1","TGFB2","TGFB3","TGFBR1","TGFBR2","TGFBR3","THBD","THPO","THRA","THSD1","THSD4","TICAM1","TIMM8A","TINF2","TKFC","TLL1","TLR3","TLR4","TLR7","TLR8","TMEM127","TMEM147","TMEM165","TMEM237","TMEM67","TMPO","TMPRSS6","TMTC3","TNFAIP3","TNFRSF11A","TNFRSF13B","TNFRSF13C","TNFRSF1A","TNFRSF1B","TNFRSF4","TNFRSF9","TNFSF11","TNFSF12","TNFSF15","TNFSF4","TNIP1","TNNC1","TNNI3","TNNT2","TNPO3","TNXB","TOM1","TONSL","TOR1A","TP53","TP63","TPI1","TPM1","TPMT","TPP2","TRAC","TRAF3","TRAF7","TREM2","TREX1","TRIP13","TRMT5","TRMU","TRNT1","TSC1","TSC2","TSPAN12","TSR2","TTC7A","TTI2","TTN","TTR","TUBA8","TUBB1","TXNRD2","TYK2","TYMP","TYMS","TYROBP","UBA1","UBA2","UBAC2","UBE2A","UBE2L3","UBE2T","UBR1","UFD1","UMPS","UNC119","UNC13D","UNC45A","UNC93B1","UNG","UQCRFS1","UROD","UROS","USB1","USP18","USP48","USP8","VCL","VEZF1","VHL","VKORC1","VPS13A","VPS13B","VPS33A","VPS33B","VPS45","VWF","WARS2","WAS","WDR1","WDR19","WFS1","WIPF1","WRAP53","WRN","WT1","XIAP","XK","XPR1","XRCC2","XRCC4","XYLT1","XYLT2","YARS1","YARS2","YIPF5","ZAP70","ZBTB16","ZBTB20","ZBTB24","ZBTB7A","ZCCHC8","ZEB2","ZMPSTE24","ZNF341","ZNF408","ZNF469","ZNF699","ZNFX1","ZPR1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THROMBOCYTES":{"collection":"C5:HPO","systematicName":"M35493","pmid":"","exactSource":"HP:0001872","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001872","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THROMBOCYTES","geneSymbols":["ABCA1","ABCC6","ABCD4","ABCG8","ABL1","ACAD9","ACAT1","ACD","ACP5","ACTN1","ADA","ADA2","ADAMTS13","ADAR","ADH5","AGK","ALG12","ALG8","AMN","ANKRD11","ANKRD26","AP3B1","APOE","ARHGAP31","ARHGEF1","ARPC1B","ARVCF","ASAH1","ASXL1","ATP6AP1","ATP6V1B2","ATP7B","ATRX","BANK1","BCOR","BCR","BLK","BLOC1S3","BLOC1S5","BLOC1S6","BRAF","BRCA1","BRCA2","BRIP1","BTK","BTNL2","C3","C4A","C4B","CA2","CALR","CASP10","CBL","CD109","CD19","CD36","CD40LG","CD46","CD55","CD81","CDC40","CDC42","CFB","CFH","CFHR1","CFHR3","CFI","CIITA","CISD2","CLCN7","CLPB","COG1","COG4","COG6","COL4A5","COMT","CORIN","CR2","CTC1","CTLA4","CTNNBL1","CUBN","CYCS","DCLRE1C","DEF6","DGKE","DGUOK","DHFR","DIAPH1","DKC1","DLL4","DNAJC21","DNASE1","DOCK2","DOCK6","DTNBP1","DZIP1L","EFL1","ELANE","ELF4","ENPP1","EOGT","EPB42","EPHB2","ERBB3","ERCC4","ERCC6L2","ESCO2","ETS1","ETV6","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FARS2","FAS","FASLG","FCGR2A","FCGR2B","FCGR2C","FCGR3B","FERMT3","FIP1L1","FLI1","FLNA","FLT1","FOCAD","FOXP3","FYB1","G6PC3","GALC","GATA1","GATA2","GBA1","GFI1B","GIMAP5","GNA14","GNAS","GP1BA","GP1BB","GP6","GP9","GUCY1A1","HBB","HEATR3","HELLPAR","HIRA","HLA-B","HLA-DQA1","HLA-DQB1","HLA-DRB1","HLCS","HMGCL","HMOX1","HOXA11","HPS3","HPS4","HPS5","HPS6","HSCB","ICOS","IFIH1","IFNG","IFNGR1","IGHG1","IKZF1","IKZF5","IL10","IL6ST","IL7R","IRAK1","IRF2BP2","IRF5","IRF8","ITGA2","ITGA2B","ITGAM","ITGB3","ITK","IVD","JAK2","JAM2","JAZF1","JMJD1C","KARS1","KCNJ1","KCNN4","KDM6A","KIAA0319L","KIF15","KIT","KMT2D","KRAS","LACC1","LARS2","LAT","LBR","LCK","LCP2","LIG4","LIPA","LMBRD1","LRBA","LSM11","LYST","LZTR1","MAD2L2","MADD","MAGT1","MAP2K1","MARS1","MECOM","MECP2","MED12","MGAT2","MMAA","MMAB","MMACHC","MMUT","MOGS","MPIG6B","MPL","MRAS","MS4A1","MTHFD1","MTOR","MVK","MYH9","MYORG","MYSM1","NAA10","NABP1","NAF1","NBEAL2","NBN","NFKB1","NFKB2","NHEJ1","NHP2","NIPBL","NLRC4","NLRP3","NOP10","NOS3","NOTCH1","NPM1","NRAS","NSUN2","NUMA1","OCLN","OCRL","ORAI1","OSTM1","OTUD5","P2RY12","P4HA2","PALB2","PARN","PCCA","PCCB","PDCD1","PDGFB","PDGFRB","PEPD","PHGDH","PIGA","PIK3CD","PIK3CG","PKHD1","PLA2G4A","PLAU","PLEKHM1","PLOD3","PML","PMM2","PNP","POLRMT","POMP","PPIL1","PRDX1","PRF1","PRIM1","PRKACG","PRKAR1A","PRKCD","PSAP","PSMB4","PSMB8","PSMB9","PSTPIP1","PTPN11","PTPN22","PXK","RAD51","RAD51C","RAF1","RAG1","RAG2","RARA","RASA2","RASGRP1","RASGRP2","RBM8A","RBPJ","RECQL","REL","RFWD3","RFX5","RFXANK","RFXAP","RIT1","RNASEH2A","RNASEH2B","RNASEH2C","RNU7-1","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS14","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS7","RPSA","RRAS","RRAS2","RREB1","RTEL1","RUNX1","RYR1","SALL4","SAMD9","SAMD9L","SAMHD1","SARS2","SASH3","SAT1","SBDS","SC5D","SCARB2","SCN10A","SCN11A","SCN9A","SEC24C","SF3B1","SH2B3","SH2D1A","SKIC2","SKIC3","SLC19A2","SLC20A2","SLC35A1","SLC37A4","SLC39A7","SLC46A1","SLC7A7","SLF2","SLFN14","SLX4","SMARCAL1","SMARCD2","SMC5","SMPD1","SNX10","SOCS1","SOS1","SOS2","SP110","SPATA5","SPP1","SPRED2","SRC","SRP54","SRSF2","STAT1","STAT2","STAT3","STAT4","STAT5B","STIM1","STING1","STOX1","STT3B","STX11","STXBP2","TALDO1","TBC1D24","TBL1XR1","TBX1","TBXA2R","TBXAS1","TCIRG1","TCN2","TERC","TERT","TET2","TFRC","TGFB1","THBD","THPO","TINF2","TLR7","TLR8","TMEM165","TNFAIP3","TNFRSF13B","TNFRSF13C","TNFSF11","TNFSF12","TNFSF4","TNIP1","TOM1","TP53","TPP2","TREX1","TRNT1","TSR2","TTC7A","TUBA8","TUBB1","TYMS","UBA1","UBE2L3","UBE2T","UFD1","UNC13D","UQCRFS1","UROS","USB1","USP18","VPS33A","VPS33B","VPS45","VWF","WARS2","WAS","WDR1","WFS1","WIPF1","WRAP53","XIAP","XPR1","XRCC2","ZAP70","ZBTB16","ZNFX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_NEUTROPHILS":{"collection":"C5:HPO","systematicName":"M35494","pmid":"","exactSource":"HP:0001874","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001874","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_NEUTROPHILS","geneSymbols":["AARS1","ABCC9","ABCD4","ACP5","ACTC1","ACTN2","ADA2","AGA","AK2","AMN","ANAPC1","ANKRD1","AP3B1","AP3D1","ASXL1","ATRX","BAG3","BAG5","BCOR","BLNK","BTK","CAMK2B","CAP2","CARS1","CASP10","CBL","CD40","CD40LG","CD79A","CD79B","CDC40","CDCA7","CEBPE","CIITA","CLPB","COG4","CRYAB","CSF3R","CSRP3","CTC1","CTLA4","CUBN","CXCR2","CXCR4","CYBA","CYBB","CYBC1","DES","DIAPH1","DKC1","DMD","DNAJC21","DNMT3B","DOLK","DSG2","DSP","EFL1","EIF2AK3","ELANE","EPG5","ERCC2","ERCC3","ETV6","FANCA","FANCC","FANCD2","FANCE","FANCG","FANCI","FAS","FASLG","FBXL4","FBXW7","FCGR3B","FDX2","FHL2","FIBP","FIP1L1","FKTN","FMO3","FNIP1","FOXP3","FTCD","FUT8","G6PC3","GATA1","GATA2","GATAD1","GFI1","GINS1","GPI","GSS","GTF2E2","GTF2H5","HAND2","HAX1","HEATR3","HELLS","HLA-B","HSCB","HTRA2","ICOS","IFNG","IGHM","IGLL1","IKBKG","IKZF1","IL1RN","IL36RN","IL6ST","IL7R","IRAK4","IRF2BP2","IRF8","ITCH","JAGN1","JPH2","KIT","KRAS","LAMA4","LAMTOR2","LBR","LCP2","LDB3","LIG4","LMBRD1","LMNA","LMOD2","LRBA","LRRC8A","LYST","MAD2L2","MDM4","MECOM","MEFV","MMAA","MMAB","MMACHC","MMUT","MPLKIP","MSN","MTHFD1","MTRR","MVK","MYBPC3","MYD88","MYH6","MYH7","MYH9","MYPN","MYSM1","NABP1","NBAS","NCAPG2","NCF1","NCF2","NCF4","NDUFA6","NEXN","NHP2","NLRP3","NOP10","NPM1","NRAS","NSUN2","NUMA1","OTULIN","PACS2","PARN","PCCA","PCCB","PGM3","PIK3CD","PIK3CG","PIK3R1","PLN","PML","PMM2","PNP","PPCS","PPIL1","PRDM16","PRDX1","PRF1","PRKAR1A","PRKCD","PSEN1","PSEN2","RAB27A","RAC2","RAF1","RAG1","RARA","RASGRP1","RBM20","RECQL4","RELB","RFX5","RFXANK","RFXAP","RMRP","RNF113A","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL3L","RPL5","RPL8","RPL9","RPS10","RPS14","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS7","RTEL1","RUNX1","SAMD9","SAMD9L","SASH3","SBDS","SCN5A","SDHA","SEC61A1","SF3B1","SFXN4","SGCD","SH2D1A","SLC19A1","SLC35A1","SLC35C1","SLC37A4","SLC39A7","SLC46A1","SMARCAL1","SMARCD2","SPI1","SPPL2A","SRP19","SRP54","SRSF2","STAT1","STAT3","STAT5B","STK4","STX11","STXBP2","TAF1A","TAFAZZIN","TARS1","TBK1","TBL1XR1","TCAP","TCF3","TCIRG1","TCN2","TDP2","TERC","TERT","TET2","TFR2","TFRC","TICAM1","TINF2","TLR3","TLR8","TMEM147","TMPO","TNNC1","TNNI3","TNNT2","TOM1","TONSL","TPM1","TPP2","TRAC","TRAF3","TSR2","TTN","TXNRD2","TYMS","UBE2A","UNC13D","UNC93B1","USB1","VCL","VEZF1","VPS13B","VPS33A","VPS45","WAS","WDR1","WIPF1","WRAP53","XIAP","ZBTB16","ZBTB24","ZNFX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PANCYTOPENIA":{"collection":"C5:HPO","systematicName":"M35495","pmid":"","exactSource":"HP:0001876","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001876","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PANCYTOPENIA","geneSymbols":["ACD","ACP5","ADA2","ALPK1","AMN","ANAPC1","ASXL1","ATR","BACH2","BCOR","CA2","CALR","CBL","CD27","CIITA","CLPB","COG6","COQ2","CUBN","DCLRE1B","DHFR","DKC1","DNAJC21","DNASE2","DPP9","DUT","EFL1","ELANE","FANCA","FANCB","FANCC","FANCD2","FANCE","FARSB","FIP1L1","GATA2","GBA1","GFI1","GNAS","HAVCR2","HLA-DRB1","HOXA11","IFIH1","IFNG","IKZF1","IRF2BP2","ITCH","ITK","IVD","JAK2","KRAS","LIG4","LMBRD1","LRBA","LYST","MAN2B1","MMAA","MMAB","MPL","MRPS7","MTHFD1","MTRR","NABP1","NAXD","NBN","NHP2","NLRC4","NOP10","NPM1","NRAS","NUMA1","OSTM1","PALB2","PCCA","PCCB","PIGA","PML","PRF1","PRKAR1A","PSTPIP1","PTPRC","RAB27A","RAC2","RARA","RECQL4","RFX5","RFXANK","RFXAP","RNASEH2A","RPA1","RUNX1","SAMD9","SAMD9L","SARS2","SBDS","SCARB2","SF3B1","SH2D1A","SLC46A1","SLX4","SMARCAL1","SP110","SRP19","SRP54","SRP72","SRSF2","STAT3","STAT5B","STN1","TALDO1","TBL1XR1","TCF3","TCIRG1","TCN2","TERC","TERT","TET2","TINF2","TNFRSF4","TNFRSF9","TNFSF11","UBE2T","WRAP53","XIAP","XRCC4","ZBTB16","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_ERYTHROCYTE_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M35496","pmid":"","exactSource":"HP:0001877","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001877","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ERYTHROCYTE_MORPHOLOGY","geneSymbols":["AARS1","AASS","ABCA1","ABCB6","ABCB7","ABCC8","ABCD3","ABCD4","ABCG8","ACAD8","ACD","ACP5","ACSL4","ACTN4","ACVR1","ACVRL1","ADA","ADA2","ADAMTS13","ADAR","ADH5","AGGF1","AGXT","AK1","AK2","ALAD","ALAS2","ALDOA","ALG2","ALG8","ALPL","ALX4","AMMECR1","AMN","ANAPC1","ANK1","ANKRD11","ANKRD55","APC","APOB","APPL1","ASAH1","ASXL1","ATP11C","ATP5F1A","ATP6AP1","ATP7B","ATPAF2","ATRX","BANK1","BCL10","BCL11A","BCOR","BIRC3","BLK","BLM","BMPR1A","BPGM","BRCA1","BRCA2","BRIP1","BSCL2","BTK","BTNL2","C1GALT1C1","C1QB","C2orf69","C3","C4A","C4B","CA2","CAD","CALR","CARD10","CARS1","CASK","CASP10","CASR","CAT","CBL","CBLIF","CCND1","CD19","CD247","CD3G","CD40LG","CD46","CD55","CD59","CD81","CDAN1","CDC40","CDCA7","CDIN1","CEL","CELA2A","CFB","CFH","CFHR1","CFHR3","CFI","CHD7","CIITA","CISD2","CLCN7","CLCNKB","CLPB","CLPX","COA8","COG1","COL17A1","COL2A1","COL3A1","COL4A1","COL7A1","COQ2","COX10","COX4I2","CP","CPOX","CR2","CRIPT","CTC1","CTLA4","CUBN","CYB561","CYB5A","CYB5R3","CYBC1","CYP4F22","DAXX","DBH","DCDC2","DCLRE1C","DDX41","DEF6","DGKE","DHFR","DIAPH1","DKC1","DMXL2","DNAJC19","DNAJC21","DNAJC3","DNASE1","DNM1L","DNMT3B","DPAGT1","DPP9","DUT","EDNRB","EFL1","EGLN1","EIF2AK3","ELANE","ELF4","ELMO2","ENG","EPAS1","EPB41","EPB42","EPHB4","EPO","EPOR","ERBB3","ERCC2","ERCC3","ERCC4","ERCC6","ERCC6L2","ERCC8","ETS1","ETV6","EWSR1","EXT2","F2","F8","FADD","FAH","FAM111A","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FARS2","FARSA","FARSB","FAS","FASLG","FCGR2A","FCGR2B","FCGR3B","FDX2","FECH","FERMT1","FERMT3","FGF23","FH","FIP1L1","FLI1","FMO3","FN1","FOCAD","FOXP1","FOXP3","FTCD","FTH1","G6PC3","G6PD","GALNT2","GALT","GATA1","GATA2","GATB","GATC","GBA1","GCK","GCLC","GDF2","GFI1B","GLA","GLRX5","GNA14","GNB2","GP1BA","GPI","GPX1","GREM1","GSR","GSS","GTF2E2","GTF2H5","GYPC","HAMP","HAVCR2","HBA1","HBA2","HBB","HBD","HBG1","HBG2","HCK","HEATR3","HELLPAR","HELLS","HK1","HLA-B","HLA-DQA1","HLA-DQB1","HLA-DRB1","HMGCL","HMOX1","HNF1A","HNF4A","HPGD","HPRT1","HSCB","HSPA9","ICOS","IDH1","IDH2","IFIH1","IFNG","IFNGR1","IFT140","IGHG1","IKZF1","IL10","IL12B","IL2RA","IL2RB","IL2RG","IL37","IL6ST","IL7R","INS","IRAK1","IREB2","IRF2BP2","IRF4","IRF5","IRF8","IRX5","ISCU","ITGA2B","ITGAM","ITGB4","ITK","JAK2","JAZF1","KARS1","KCNE1","KCNE5","KCNJ11","KCNN4","KCNQ1","KDM6A","KHK","KIAA0319L","KIF15","KIF1B","KIF23","KIT","KLF1","KLF11","KMT2D","KRAS","KRT14","KRT5","LAMA3","LAMB3","LAMC2","LARS1","LARS2","LAT","LCAT","LCK","LCP2","LIG1","LIG3","LIG4","LIPA","LMBRD1","LPIN2","LRBA","LYRM7","LYST","MAD2L2","MADD","MALT1","MARS1","MDM4","MECOM","MECP2","MEFV","MLX","MMAA","MMAB","MMACHC","MMADHC","MMP1","MMUT","MPIG6B","MPL","MPLKIP","MS4A1","MT-CO1","MT-CO2","MT-CO3","MT-ND1","MT-ND4","MT-ND5","MT-ND6","MT-TF","MT-TH","MT-TL1","MT-TN","MT-TQ","MT-TS1","MT-TS2","MT-TW","MTHFD1","MTR","MTRR","MTTP","MTX2","MUC1","MVK","MYD88","MYSM1","NAA10","NABP1","NAF1","NARS2","NBN","NCAPG2","NDUFB7","NEUROD1","NFKB1","NFKB2","NHEJ1","NHLRC2","NHP2","NLRC4","NLRP1","NLRP3","NOD2","NOP10","NPHP1","NPHP4","NPM1","NRAS","NSMCE2","NSUN2","NT5C3A","NTRK1","NUMA1","OCRL","OPA1","ORAI1","OSTM1","PACS2","PALB2","PANK2","PARN","PAX2","PAX4","PBX1","PCCA","PCCB","PCNT","PDCD1","PDGFRA","PDX1","PEPD","PFKM","PGK1","PGM3","PHF21A","PHGDH","PHKA2","PHKB","PHKG2","PI4KA","PIEZO1","PIGA","PIGT","PIK3CG","PKLR","PLA2G4A","PLEC","PLEKHM1","PML","PNP","PNPO","POLG","POLRMT","PPOX","PRDX1","PRF1","PRIM1","PRKACG","PRKAR1A","PRKCD","PROS1","PRPS1","PSAP","PSMB4","PSMB8","PSMB9","PSMC1","PSMG2","PSTPIP1","PTEN","PTF1A","PTH1R","PTPN2","PTPN22","PUS1","PXK","QRSL1","RAC2","RACGAP1","RAD51","RAD51C","RAG1","RAG2","RARA","RASGRP1","RBCK1","RBM8A","RECQL","RECQL4","REN","RFWD3","RFX5","RFXANK","RFXAP","RHAG","RHCE","RHD","RIPK1","RMRP","RNF113A","RNU7-1","RPGRIP1L","RPL11","RPL13","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS14","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS7","RPSA","RRM2B","RTEL1","RUNX1","SAMD9","SAMD9L","SAR1B","SARS2","SASH3","SAT1","SBDS","SC5D","SCARB2","SDHA","SDHB","SDHC","SEC23B","SEC61A1","SERPINA6","SF3B1","SFXN4","SH2B3","SHPK","SLC11A2","SLC12A3","SLC19A1","SLC19A2","SLC25A10","SLC25A13","SLC25A21","SLC25A38","SLC29A3","SLC2A1","SLC30A10","SLC35C1","SLC37A4","SLC40A1","SLC46A1","SLC4A1","SLC4A2","SLC5A2","SLC7A7","SLCO2A1","SLF2","SLX4","SMAD4","SMARCAL1","SMARCD2","SMC5","SMPD1","SNX10","SOCS1","SP110","SPP1","SPTA1","SPTB","SRD5A3","SRP54","SRSF2","STAT1","STAT2","STAT3","STAT4","STAT5B","STEAP3","STIM1","STING1","STK11","STK4","STX11","STXBP2","SUCLA2","SURF1","SYK","TAFAZZIN","TALDO1","TARS1","TBCE","TBL1XR1","TBX1","TBXAS1","TCF3","TCIRG1","TCN2","TEK","TERC","TERT","TET2","TF","TFR2","TFRC","TGFB1","THBD","THPO","THRA","TINF2","TKFC","TLR7","TLR8","TMEM67","TMPRSS6","TNFAIP3","TNFRSF11A","TNFRSF13B","TNFRSF13C","TNFRSF4","TNFSF11","TNFSF12","TNFSF4","TNIP1","TOM1","TOR1A","TP53","TPI1","TPP2","TRAC","TREX1","TRMT5","TRNT1","TSR2","TTC7A","TTR","TYMP","TYMS","UBA1","UBE2L3","UBE2T","UBR1","UMPS","UNC13D","UNC45A","UQCRFS1","UROD","UROS","USB1","VHL","VPS13A","VPS33A","VPS45","WAS","WFS1","WIPF1","WRAP53","WRN","WT1","XK","XRCC2","XRCC4","YARS1","YARS2","YIPF5","ZAP70","ZBTB16","ZBTB20","ZBTB24","ZBTB7A","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_EOSINOPHIL_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M35498","pmid":"","exactSource":"HP:0001879","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001879","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_EOSINOPHIL_MORPHOLOGY","geneSymbols":["ADA","ASXL1","ATRX","BCL11B","BRAF","BTNL2","CAPN3","CARD10","CARD11","CARD9","CASP10","CD247","CD3D","CD3E","CDH23","CDSN","CHD7","CLPB","DCLRE1C","DOCK8","ELANE","EPX","EXTL3","FAS","FASLG","FOXP3","GFI1","GPR35","HLA-DRB1","IKBKG","IL2RG","IL6ST","IL7R","IPO8","IRF8","JAK1","KIT","LIG4","MST1","NLRP1","NLRP3","NR3C1","PDGFRA","PDGFRB","PGM3","PIK3CG","PRKCD","RAG1","RAG2","RASGRP1","RBM8A","RMRP","RNU4ATAC","SEMA4D","SLC27A4","SLC46A1","SPINK5","SREBF1","SRP19","SRP54","SRSF2","STAT3","TBX21","TCF4","TCIRG1","TET2","TP53","TRAC","USP48","USP8","WAS","WIPF1","ZAP70","ZNF341"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_EOSINOPHILIA":{"collection":"C5:HPO","systematicName":"M47054","pmid":"","exactSource":"HP:0001880","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001880","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EOSINOPHILIA","geneSymbols":["ADA","ASXL1","BCL11B","BTNL2","CAPN3","CARD11","CARD9","CASP10","CD247","CD3D","CD3E","CDSN","CHD7","CLPB","DCLRE1C","DOCK8","ELANE","EXTL3","FAS","FASLG","FOXP3","GFI1","HLA-DRB1","IKBKG","IL2RG","IL6ST","IL7R","IPO8","IRF8","JAK1","KIT","LIG4","NLRP1","NLRP3","PDGFRA","PDGFRB","PGM3","PIK3CG","PRKCD","RAG1","RAG2","RASGRP1","RBM8A","RMRP","RNU4ATAC","SLC27A4","SLC46A1","SPINK5","SREBF1","SRP19","SRP54","SRSF2","STAT3","TBX21","TCIRG1","TET2","TRAC","WAS","ZAP70","ZNF341"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LEUKOPENIA":{"collection":"C5:HPO","systematicName":"M35499","pmid":"","exactSource":"HP:0001882","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001882","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LEUKOPENIA","geneSymbols":["ADA2","ADH5","AK2","ARHGAP31","ATP6AP1","BANK1","BCOR","BLK","BLOC1S6","BRCA1","BRCA2","BRIP1","BTNL2","C4A","C4B","CA2","CLPB","CR2","CTLA4","DDX41","DKC1","DLL4","DNAJC21","DNASE1","DOCK6","EFL1","EOGT","EPG5","ERCC4","ERCC6L2","ETS1","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FCGR2A","FCGR2B","FCGR3B","FIP1L1","FOCAD","G6PC3","GATA1","GBA1","HEATR3","HLA-DRB1","HMGCL","IGHG1","IL10","IRAK1","IRF2BP2","IRF5","ISCU","ITGAM","ITK","IVD","JAZF1","KIAA0319L","LIPA","LYST","MAD2L2","MECP2","MMUT","MYSM1","NABP1","NAE1","NOTCH1","NPM1","NUMA1","OTUD5","PALB2","PDCD1","PGM3","PIGA","PML","PRF1","PRKAR1A","PTPN22","PXK","RAC2","RAD51","RAD51C","RARA","RBPJ","RFWD3","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS14","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS7","RTEL1","SAMD9","SARS2","SASH3","SAT1","SBDS","SCARB2","SLC46A1","SLC7A7","SLF2","SLX4","SPP1","SRP54","STAT3","STAT4","STAT5B","STING1","TBL1XR1","TBXAS1","TERC","TERT","TGFB1","TINF2","TLR7","TNFAIP3","TNFSF4","TNIP1","TREX1","TRNT1","TSR2","UBE2L3","UBE2T","UROS","USB1","VPS13B","VPS33A","VPS45","XRCC2","ZBTB16","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_TALIPES_CALCANEOVALGUS":{"collection":"C5:HPO","systematicName":"M35500","pmid":"","exactSource":"HP:0001884","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001884","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TALIPES_CALCANEOVALGUS","geneSymbols":["ALDH18A1","ATRX","CHRNG","DHCR7","ELN","ERMARD","FBLN5","LMX1B","NEFL","PLA2G6","PMP22","SPECC1L","VIPAS39","VPS33B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LYMPHOPENIA":{"collection":"C5:HPO","systematicName":"M41246","pmid":"","exactSource":"HP:0001888","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001888","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LYMPHOPENIA","geneSymbols":["ACP5","ADA","ADA2","ADAMTS3","AK2","ALG12","AP1S3","ARHGEF1","ATM","ATP11A","ATRX","B2M","BCL11B","BRAF","BTK","CASP10","CCBE1","CD19","CD247","CD3D","CD3E","CD3G","CD79A","CD79B","CD81","CD8A","CDCA7","CDH23","CHD7","CIITA","CLPB","CORO1A","CR2","CTLA4","CTNNBL1","CTPS1","CXCR4","CYBC1","DCLRE1B","DCLRE1C","DEF6","DNMT3B","DOCK2","DOCK8","ELANE","EPG5","EXTL3","FAS","FASLG","FAT4","FCHO1","FNIP1","FOXN1","G6PC3","GATA2","GFI1","GINS1","GTF2H5","HELLS","ICOS","IFIH1","IGHM","IGLL1","IKBKB","IKBKG","IKZF1","IKZF3","IL2RA","IL2RG","IL36RN","IL6ST","IL7","IL7R","IRAK1","IRF2BP2","ITK","IVNS1ABP","JAK3","KNSTRN","LAT","LBR","LCK","LEP","LEPR","LRBA","MAGT1","MCM10","MDM4","MS4A1","MSN","MTHFD1","MYC","MYD88","MYSM1","NAE1","NAF1","NBN","NCAPG2","NFKB1","NFKB2","NHEJ1","NR3C1","NSMCE3","PGM3","PI4KA","PIK3CD","PIK3CG","PIK3R1","PNP","POMP","PRIM1","PRKCD","PRKDC","PSMB4","PSMB9","PTEN","PTPRC","RAC2","RAG1","RAG2","RASGRP1","REL","RFX5","RFXANK","RFXAP","RIPK1","RMRP","RPA1","RRAS2","SAMD9","SASH3","SAT1","SGPL1","SKIC2","SKIC3","SLC39A7","SMARCAL1","SP110","SPI1","SPP1","SPRED2","SRP19","SRP54","STAT1","STAT2","STAT4","STING1","STK4","SYK","TBX2","TCF3","TCIRG1","TCN2","TERC","TERT","TFR2","TINF2","TLR7","TLR8","TNFAIP3","TNFRSF13B","TNFRSF13C","TNFRSF9","TNFSF12","TOM1","TP53","TPP2","TRNT1","TTC7A","TTI2","UNC119","USP48","USP8","WAS","WDR1","WIPF1","XRCC4","ZAP70","ZBTB24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MEGALOBLASTIC_ANEMIA":{"collection":"C5:HPO","systematicName":"M35501","pmid":"","exactSource":"HP:0001889","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001889","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MEGALOBLASTIC_ANEMIA","geneSymbols":["AMN","CBLIF","CUBN","DHFR","FTCD","HPRT1","LMBRD1","MMACHC","MMADHC","MTHFD1","MTR","MTRR","PHGDH","PRDX1","SLC19A1","SLC19A2","SLC46A1","UMPS","WFS1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_AUTOIMMUNE_HEMOLYTIC_ANEMIA":{"collection":"C5:HPO","systematicName":"M35502","pmid":"","exactSource":"HP:0001890","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001890","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AUTOIMMUNE_HEMOLYTIC_ANEMIA","geneSymbols":["ACP5","ADA","CASP10","CD247","CD3G","CIITA","CTLA4","DEF6","FAS","FASLG","FOXP3","IL2RA","IL2RB","ITK","LCP2","LRBA","NBN","NFKB1","NLRP1","PI4KA","PIK3CG","PNP","PRKCD","PSMG2","RAG1","RAG2","RASGRP1","RFX5","RFXANK","RFXAP","STAT1","STAT3","STIM1","STK4","TLR8","TOM1","TPP2","TRAC","TTC7A","WAS","ZAP70"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_IRON_DEFICIENCY_ANEMIA":{"collection":"C5:HPO","systematicName":"M35503","pmid":"","exactSource":"HP:0001891","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001891","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IRON_DEFICIENCY_ANEMIA","geneSymbols":["ABCD3","ALAS2","ALG2","APC","ATRX","CASP10","CD55","CLCNKB","CLPX","COL2A1","COL7A1","DAXX","DIAPH1","EIF2AK3","ELF4","FAS","FASLG","FGF23","FN1","FOXP3","GALNT2","HBB","HLA-DQA1","HLA-DQB1","KCNE1","KCNQ1","MMP1","NAA10","PLA2G4A","SLC12A3","STK11","WAS","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_BLEEDING":{"collection":"C5:HPO","systematicName":"M35504","pmid":"","exactSource":"HP:0001892","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001892","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BLEEDING","geneSymbols":["ABCC6","ABCG8","ACAD9","ACP5","ACTA1","ACTA2","ACTN1","ACVRL1","ADA2","ADAMTS2","ADAMTSL2","AEBP1","AGGF1","AIP","AKT1","ALDOB","ALG13","ALPL","AMACR","AMN","ANGPTL6","ANKRD26","ANO6","AP3B1","APC","APOE","APP","ARF1","ARFGEF2","ARHGAP31","ARL6IP6","ARMC5","ARPC1B","ARVCF","ASXL1","ATOH7","ATP6V0A2","ATP6V1A","ATP6V1E1","ATP7A","ATP7B","ATP8B1","ATRX","B3GALT6","B4GALT1","BAP1","BCOR","BEST1","BGN","BICD2","BLOC1S3","BLOC1S5","BMPR1A","BMS1","BRAF","BRCC3","C1R","C1S","C2","C4A","CACNA1D","CALR","CAPN5","CASP10","CAT","CBL","CBS","CCM2","CCR1","CD109","CD19","CD36","CD46","CD81","CDC42BPB","CDH23","CDKN1A","CDKN1B","CDKN2B","CDKN2C","CEBPE","CFH","CFHR1","CFHR3","CFI","CHST14","CISD2","CLCN2","CLCN7","CLPB","COG6","COG8","COL1A1","COL1A2","COL3A1","COL4A1","COL4A2","COL5A1","COL5A2","COMT","COPA","CPT2","CR2","CREB3L1","CST3","CTC1","CTCF","CTLA4","CTNNB1","CUBN","CYP11B1","CYP11B2","CYP26C1","CYP7B1","CYSLTR2","DAXX","DCLRE1B","DHPS","DIAPH1","DLL4","DLST","DNM2","DNMT3A","DOCK6","DOCK8","DPAGT1","DPP9","DSE","DST","DTNBP1","DZIP1L","EFEMP1","EIF2AK4","ELMO2","ELN","EMILIN1","ENG","ENPP1","EOGT","EPAS1","EPCAM","EPHB2","EPHB4","EPOR","ERAP1","ERCC6","ERCC8","ERMARD","ETHE1","ETV6","EXT2","F10","F11","F12","F13A1","F13B","F2","F5","F7","F8","F9","FAH","FAN1","FANCA","FANCC","FANCD2","FANCE","FAS","FASLG","FBN1","FCGR2C","FERMT3","FGA","FGB","FGG","FH","FIP1L1","FKBP10","FKBP14","FLI1","FLNA","FN1","FOXE3","FUCA1","FYB1","FZD4","G6PC1","GAA","GATA1","GATA2","GBA1","GCDH","GDF2","GFI1B","GGCX","GIMAP5","GNA11","GNA14","GNAQ","GNAS","GP1BA","GP1BB","GP6","GP9","GREM1","GSN","HADHB","HBA1","HBA2","HCK","HELLPAR","HEY2","HIRA","HLA-B","HLA-DPA1","HLA-DPB1","HLA-DRB1","HMCN1","HMOX1","HOXA11","HPGD","HPS1","HPS3","HPS4","HPS5","HPS6","HSD3B7","ICOS","IFIH1","IFNG","IFNGR1","IKBKG","IKZF1","IKZF5","IL10","IL10RA","IL12A","IL12A-AS1","IL18BP","IL23R","IPO8","IRF2BP2","IRF4","ITGA2","ITGA2B","ITGB3","ITGB4","IVD","JAK2","JAM2","JMJD1C","KANSL1","KCNJ5","KIF1B","KIF23","KIT","KLKB1","KLRC4","KRAS","KRIT1","KRT1","LAMB2","LBR","LCP2","LMAN1","LMBRD1","LMNA","LMOD2","LMX1B","LOX","LRP5","LYST","LZTR1","MAP1B","MAP2K1","MAP2K2","MAPK1","MARS2","MAT2A","MAX","MCFD2","MDH2","MED12","MEFV","MEN1","MFAP5","MGAT2","MLH1","MLH3","MMACHC","MMUT","MPI","MPL","MRAS","MS4A1","MSH2","MSH6","MTAP","MTTP","MVK","MYC","MYD88","MYH11","MYH9","MYLK","MYORG","MYRF","NABP1","NAGA","NBEAL2","NDE1","NDP","NEDD4L","NEU1","NF1","NF2","NFIA","NFIX","NFKB1","NFKB2","NLRC4","NLRP3","NOTCH1","NOTCH3","NPM1","NR3C1","NRAS","NTRK1","NUMA1","OCLN","ORAI1","P2RY12","P4HA2","PCCA","PCCB","PDCD10","PDE11A","PDGFB","PDGFRA","PDGFRB","PEPD","PET100","PEX12","PIK3CA","PKHD1","PLAU","PLEC","PLOD1","PLOD3","PLVAP","PML","PMM2","PMS1","PMS2","POT1","PRDM5","PRF1","PRKACA","PRKACG","PRKAR1A","PRKCD","PRKCSH","PRKG1","PRLR","PROC","PROS1","PRTN3","PTEN","PTPN11","PTPN22","PUF60","PYCR1","RAB27A","RACGAP1","RAF1","RANBP2","RARA","RASA1","RASA2","RASGRP1","RASGRP2","RB1","RBCK1","RBM10","RBM8A","RBPJ","RET","RFT1","RHBDF2","RIN2","RIT1","RNF168","RPS14","RPS20","RRAS","RRAS2","RREB1","RS1","RUNX1","RYR1","SAMD9","SBDS","SCARB2","SDHA","SDHAF2","SDHB","SDHC","SDHD","SEC24C","SEC63","SEMA4A","SERPINE1","SERPINF2","SF3B1","SH2B3","SIK3","SIN3A","SLC20A2","SLC25A11","SLC25A13","SLC2A10","SLC35A1","SLC37A4","SLC39A13","SLC51A","SLC7A7","SLCO2A1","SLFN14","SMAD2","SMAD3","SMAD4","SMARCB1","SMARCE1","SMC5","SMO","SMPD1","SNORD118","SNX10","SOS1","SOS2","SP110","SPARC","SPRED2","SRC","SREBF1","SRSF2","STAT2","STAT3","STAT4","STAT5B","STIM1","STK11","STN1","STT3A","STX11","STXBP1","STXBP2","SUFU","TAOK1","TBL1XR1","TBX1","TBXA2R","TCIRG1","TEK","TERC","TERT","TET2","TFR2","TGFB2","TGFB3","TGFBR1","TGFBR2","TGFBR3","THPO","THSD1","THSD4","TLR4","TMEM127","TMEM237","TMTC3","TNFRSF13B","TNFRSF13C","TNFRSF1A","TNFSF11","TNFSF12","TNXB","TP53","TRAF7","TREX1","TSC1","TSC2","TSPAN12","TTC7A","UBA2","UBAC2","UFD1","UNC13D","UROD","UROS","USP18","USP48","USP8","VHL","VKORC1","VPS33B","VWF","WAS","WFS1","WIPF1","XPR1","XYLT1","XYLT2","ZBTB16","ZEB2","ZMPSTE24","ZNF408","ZNF469","ZNFX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_THROMBOCYTOSIS":{"collection":"C5:HPO","systematicName":"M35505","pmid":"","exactSource":"HP:0001894","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001894","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THROMBOCYTOSIS","geneSymbols":["ABL1","ACAT1","ADA2","ATP6V1B2","BCR","CALR","CD55","ELANE","ELF4","GATA1","HBB","HEATR3","HLA-DQA1","HLA-DQB1","HMGCL","HMOX1","IFNG","IFNGR1","JAK2","KCNN4","LACC1","MARS1","MPL","MTHFD1","PIK3CD","PMM2","PSTPIP1","REL","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS14","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS7","RPSA","RUNX1","SF3B1","SH2B3","SKIC2","SKIC3","STING1","TBC1D24","TET2","TGFB1","THPO","TSR2","TTC7A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NORMOCHROMIC_ANEMIA":{"collection":"C5:HPO","systematicName":"M35506","pmid":"","exactSource":"HP:0001895","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001895","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NORMOCHROMIC_ANEMIA","geneSymbols":["ABCD4","ADA2","ALDOA","ASXL1","GATA1","HEATR3","HK1","KIT","LCAT","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS7","SCARB2","SF3B1","SRSF2","TET2","TPI1","TREX1","TSR2","UQCRFS1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RETICULOCYTOPENIA":{"collection":"C5:HPO","systematicName":"M35507","pmid":"","exactSource":"HP:0001896","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001896","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETICULOCYTOPENIA","geneSymbols":["ADA2","FANCA","FANCC","FANCD2","FANCE","GATA1","HEATR3","IFNG","MYSM1","PRF1","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS7","SBDS","STEAP3","TCN2","TERC","TERT","TSR2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NORMOCYTIC_ANEMIA":{"collection":"C5:HPO","systematicName":"M35508","pmid":"","exactSource":"HP:0001897","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001897","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NORMOCYTIC_ANEMIA","geneSymbols":["ALDOA","ASXL1","ATP6AP1","DNAJC21","EFL1","HK1","KIT","MTRR","MYD88","RPS29","SBDS","SF3B1","SRP54","SRSF2","TET2","TOR1A","TPI1","TREX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INCREASED_RED_BLOOD_CELL_MASS":{"collection":"C5:HPO","systematicName":"M47055","pmid":"","exactSource":"HP:0001898","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001898","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_RED_BLOOD_CELL_MASS","geneSymbols":["EGLN1","EPOR","JAK2","SH2B3","VHL"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INCREASED_HEMOGLOBIN":{"collection":"C5:HPO","systematicName":"M35509","pmid":"","exactSource":"HP:0001900","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001900","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_HEMOGLOBIN","geneSymbols":["BPGM","EGLN1","EPAS1","EPO","EPOR","HBA1","HBA2","HBB","JAK2","SH2B3","VHL"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_POLYCYTHEMIA":{"collection":"C5:HPO","systematicName":"M35510","pmid":"","exactSource":"HP:0001901","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001901","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POLYCYTHEMIA","geneSymbols":["ACVRL1","BPGM","CCND1","CYB5R3","EDNRB","EGLN1","ENG","EPAS1","EPO","EPOR","FH","HBA1","HBA2","HBB","JAK2","KCNN4","NAA10","PIEZO1","PKLR","SH2B3","SLC30A10","SLC4A1","VHL"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_GIANT_PLATELETS":{"collection":"C5:HPO","systematicName":"M35511","pmid":"","exactSource":"HP:0001902","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001902","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GIANT_PLATELETS","geneSymbols":["ABCG8","CD36","COG1","GP1BA","GP1BB","GP9","ITGA2B","LBR","MYH9","SLC35A1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NEUTROPENIA_IN_PRESENCE_OF_ANTI_NEUTROPIL_ANTIBODIES":{"collection":"C5:HPO","systematicName":"M35512","pmid":"","exactSource":"HP:0001904","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001904","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEUTROPENIA_IN_PRESENCE_OF_ANTI_NEUTROPIL_ANTIBODIES","geneSymbols":["CASP10","CIITA","CTLA4","FAS","FASLG","FCGR3B","FOXP3","ICOS","ITCH","PGM3","PIK3CG","PNP","PRKCD","RAG1","RASGRP1","RFX5","RFXANK","RFXAP","SASH3","STAT1","STAT3","TOM1","TPP2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CONGENITAL_THROMBOCYTOPENIA":{"collection":"C5:HPO","systematicName":"M35513","pmid":"","exactSource":"HP:0001905","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001905","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONGENITAL_THROMBOCYTOPENIA","geneSymbols":["GATA1","HOXA11","MECOM","MYH9","STAT2","WAS"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_THROMBOEMBOLISM":{"collection":"C5:HPO","systematicName":"M35514","pmid":"","exactSource":"HP:0001907","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001907","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THROMBOEMBOLISM","geneSymbols":["ABCC9","ADA2","CBS","CITED2","EPOR","F12","F13A1","F2","FCGR2C","FLNC","GATA4","GATA5","GATA6","GJA5","HABP2","HRG","JAK2","KCNA5","KCNE1","KCNE2","KCNJ2","KCNJ3","KCNJ5","KCNK3","KCNN4","KCNQ1","KIF20A","MMACHC","MT-CYB","MTHFR","MTRR","MYH7","MYL4","MYPN","NKX2-5","NKX2-6","NPPA","NUP155","PDE11A","PIEZO1","PIGA","PITX2","PRDX1","PRKAR1A","SCN1B","SCN2B","SCN3B","SCN4B","SCN5A","SERPINC1","SLC4A1","TLL1","TNNI3","TNNT2","TTN","TTR","UBA1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPOPLASTIC_ANEMIA":{"collection":"C5:HPO","systematicName":"M35515","pmid":"","exactSource":"HP:0001908","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001908","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASTIC_ANEMIA","geneSymbols":["KIF23","LPIN2","MVK","RMRP","RPS19","SAMD9L","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LEUKEMIA":{"collection":"C5:HPO","systematicName":"M35516","pmid":"","exactSource":"HP:0001909","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001909","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LEUKEMIA","geneSymbols":["ABL1","ADA2","ADAR","ADH5","ALAD","ANAPC1","APC","APC2","ARHGAP26","ASXL1","ATM","ATRX","BAX","BCR","BLM","BRAF","BRCA2","BRD4","BUB1","BUB1B","BUB3","CALR","CBL","CDKN2A","CEBPA","CEP57","CHEK2","CHIC2","CLPB","CREBBP","DDX41","DKC1","DNAJC21","DNMT3A","DUT","DYNC2LI1","EFL1","ELANE","EP300","ERBB3","ETV6","EVC","EVC2","F13A1","F13B","FANCA","FANCC","FANCD2","FANCE","FANCG","FLT3","GATA1","GATA2","GFI1","GLI1","GNB1","H4C9","HAX1","HEATR3","IDH1","IFIH1","IKZF1","JAK2","KIF11","KIT","KRAS","LIG4","LPP","LSM11","LZTR1","MAP2K1","MBD4","MDM2","MEFV","MLH1","MLLT10","MPL","MSH2","MYD88","NBN","NF1","NPM1","NRAS","NSD1","NSUN2","NUMA1","NUP214","NUTM1","PDGFRA","PDGFRB","PICALM","PIGL","PIK3CA","PIK3R1","POT1","PRKACA","PRKACB","PTPN11","RARA","RB1","RECQL4","RNASEH2A","RNASEH2B","RNASEH2C","RNU7-1","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS14","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS7","RUNX1","SAMD9","SAMD9L","SAMHD1","SBDS","SCN10A","SCN11A","SCN9A","SETBP1","SETD2","SF3B1","SH2B3","SH3GL1","SMPD1","SPRED1","SRP19","SRP54","SRSF2","STS","TAL1","TAL2","TCF3","TCIRG1","TERC","TERT","TET2","THPO","TP53","TREM2","TREX1","TRIP13","TSR2","TYROBP","UBE2T","WAS","WIPF1","XRCC4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_BASOPHIL_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M43267","pmid":"","exactSource":"HP:0001912","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001912","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BASOPHIL_MORPHOLOGY","geneSymbols":["ABL1","ASXL1","BACH2","BCR","KIT","RUNX1","SRSF2","TET2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_GRANULOCYTOPENIA":{"collection":"C5:HPO","systematicName":"M35517","pmid":"","exactSource":"HP:0001913","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001913","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GRANULOCYTOPENIA","geneSymbols":["AK2","ELANE","RPS28","SF3B1","TAFAZZIN","TET2","TLR8","UNC13D"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APLASTIC_ANEMIA":{"collection":"C5:HPO","systematicName":"M35518","pmid":"","exactSource":"HP:0001915","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001915","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASTIC_ANEMIA","geneSymbols":["ACD","ANAPC1","CD27","CLPB","DNAJC21","EFL1","ELANE","FANCB","GATA2","GFI1","HOXA11","IFNG","NBN","NHP2","NOP10","PALB2","PRF1","RECQL4","SBDS","SH2D1A","SRP19","SRP54","SRP72","TCIRG1","TERC","TERT","TINF2","XIAP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RENAL_AMYLOIDOSIS":{"collection":"C5:HPO","systematicName":"M41247","pmid":"","exactSource":"HP:0001917","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001917","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RENAL_AMYLOIDOSIS","geneSymbols":["B2M","COL7A1","MEFV","MMP1","NLRP3","SAA1","SLC7A7"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ACUTE_KIDNEY_INJURY":{"collection":"C5:HPO","systematicName":"M35519","pmid":"","exactSource":"HP:0001919","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001919","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACUTE_KIDNEY_INJURY","geneSymbols":["ALDOA","APRT","BSND","C3","CACNA1S","CCND1","CD46","CFB","CFH","CFHR1","CFHR3","CFI","CLCNKA","CLCNKB","CORIN","DGKE","DZIP1L","FLT1","HELLPAR","HNF1B","HPRT1","IFT140","LDHA","LPIN1","MT-CO1","MT-CO3","OBSCN","PIGA","PKHD1","PRPS1","PYGM","RYR1","SAA1","SLC22A12","SLC26A1","SLC2A9","STAT2","STOX1","TCN2","THBD"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_VACUOLATED_LYMPHOCYTES":{"collection":"C5:HPO","systematicName":"M35521","pmid":"","exactSource":"HP:0001922","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001922","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VACUOLATED_LYMPHOCYTES","geneSymbols":["AGA","CLN3","CLN5","FUCA1","GLB1","LYST","MAN2B1","NEU1","PNPLA2","PPT1","SLC17A5"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RETICULOCYTOSIS":{"collection":"C5:HPO","systematicName":"M35522","pmid":"","exactSource":"HP:0001923","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001923","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETICULOCYTOSIS","geneSymbols":["ABCB6","ABCG8","ADAMTS13","AMN","ANK1","BCL11A","CASK","CASP10","CDAN1","CDIN1","CFH","CFHR1","CFHR3","CLCN7","CPOX","CUBN","EPB41","EPB42","FAS","FASLG","G6PD","GATA1","GCLC","GYPC","HBB","HBG1","HBG2","HK1","KCNN4","KLF1","MTTP","NHLRC2","PFKM","PGK1","PIEZO1","PIGA","PKLR","PRKCD","RASGRP1","RHAG","RHCE","RHD","SEC23B","SLC2A1","SLC4A1","SPTA1","SPTB","UROS"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SIDEROBLASTIC_ANEMIA":{"collection":"C5:HPO","systematicName":"M35523","pmid":"","exactSource":"HP:0001924","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001924","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SIDEROBLASTIC_ANEMIA","geneSymbols":["ABCB7","ALAS2","BRCA1","BRCA2","BRIP1","ERCC4","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","HSPA9","ISCU","LARS2","MAD2L2","PALB2","PNPO","PUS1","RAD51","RAD51C","RFWD3","SLC19A2","SLC25A38","SLX4","TRNT1","UBE2T","WFS1","XRCC2","YARS2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ACANTHOCYTOSIS":{"collection":"C5:HPO","systematicName":"M35524","pmid":"","exactSource":"HP:0001927","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001927","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACANTHOCYTOSIS","geneSymbols":["APOB","CAD","CYP4F22","GATA1","KCNN4","MTTP","PANK2","SAR1B","SC5D","SPTB","TOR1A","VPS13A","XK"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_COAGULATION":{"collection":"C5:HPO","systematicName":"M35525","pmid":"","exactSource":"HP:0001928","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001928","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_COAGULATION","geneSymbols":["ABCC2","ABCD3","ACAD9","ACD","ADK","AGA","AGGF1","AHCY","AKR1D1","ALDOB","ALG12","ALG13","ALG2","ALG6","ALG8","AMACR","ANK1","ANO6","ATP6V0A2","ATP6V1A","ATP6V1E1","B4GALT1","BCOR","BRAF","CACNA1S","CBL","CD46","CFH","CFI","CLPB","COG2","COG4","COG8","COX16","CTC1","CYP7B1","DDOST","DKC1","DLD","DPAGT1","DPM1","DPM2","EFL1","EPB42","F10","F11","F12","F13A1","F13B","F2","F5","F7","F8","F9","FAH","FGA","FGB","FGG","FIP1L1","FLNA","FOCAD","FOXP2","GALT","GATA2","GATA6","GFI1B","GGCX","GNA14","GNE","GP1BA","GP1BB","GP6","GP9","GPR35","HADH","HAVCR2","HBB","HELLPAR","HLA-DQA1","HLA-DQB1","HMGCL","HRG","HSD17B10","HSD3B7","IDH1","IDH2","IKZF5","IRF2BP2","ITGA2B","ITGB2","ITGB3","KLKB1","KNG1","KRAS","LARS1","LMAN1","LRPPRC","LYST","LZTR1","MAP2K1","MCFD2","MCM10","MGAT2","MICOS13","MPDU1","MPI","MRAS","MST1","MTTP","MYD88","NABP1","NBAS","NBEAL2","NGLY1","NHP2","NLRC4","NOP10","NPM1","NR1H4","NRAS","NUMA1","ORAI1","OSTM1","OTC","PARN","PET100","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PGM1","PLG","PLOD3","PML","PMM2","PRF1","PRKAR1A","PROC","PROS1","PTH1R","PTPN11","RAF1","RARA","RASA2","RBM8A","RFT1","RINT1","RIT1","RRAS","RRAS2","RTEL1","RYR1","SEMA4D","SERAC1","SERPINC1","SERPINE1","SERPINF2","SHOC2","SLC25A13","SLC25A15","SLC30A10","SLC37A4","SLC4A1","SLC7A7","SOS1","SOS2","SPRED2","SPTA1","SPTB","SRD5A3","SSR4","STAT2","STAT3","STAT5B","STIM1","STX11","STXBP2","TBL1XR1","TCF4","TEK","TERC","TERT","THBD","TINF2","TNFRSF9","TRMU","TYMS","UNC13D","UQCRFS1","USB1","VKORC1","VPS33A","VPS33B","VWF","WRAP53","XIAP","ZBTB16"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_REDUCED_FACTOR_XI_ACTIVITY":{"collection":"C5:HPO","systematicName":"M35526","pmid":"","exactSource":"HP:0001929","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001929","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_FACTOR_XI_ACTIVITY","geneSymbols":["ALG12","ALG2","ALG6","ALG8","F11","LZTR1","MGAT2","MPI","NGLY1","PMM2","SLC37A4","SOS1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NONSPHEROCYTIC_HEMOLYTIC_ANEMIA":{"collection":"C5:HPO","systematicName":"M35527","pmid":"","exactSource":"HP:0001930","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001930","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NONSPHEROCYTIC_HEMOLYTIC_ANEMIA","geneSymbols":["ALDOA","GPI","HBA1","HBA2","HBB","HK1","KCNN4","PIEZO1","SLC4A1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPOCHROMIC_ANEMIA":{"collection":"C5:HPO","systematicName":"M35528","pmid":"","exactSource":"HP:0001931","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001931","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOCHROMIC_ANEMIA","geneSymbols":["ABCB7","ABCD3","ALAS2","ALG2","APC","ATRX","BCL11A","C2orf69","CARD10","CASP10","CD55","CLCNKB","CLPX","COL2A1","COL7A1","CP","DAXX","DIAPH1","DNAJC19","EIF2AK3","ELF4","ELMO2","FAS","FASLG","FGF23","FN1","FOXP3","GALNT2","GATA1","HBA1","HBA2","HBB","HBG1","HBG2","HLA-DQA1","HLA-DQB1","HSCB","IREB2","IRX5","KARS1","KCNE1","KCNQ1","KLF1","LPIN2","MMP1","NAA10","OSTM1","PLA2G4A","PUS1","SF3B1","SHPK","SLC12A3","STK11","TAFAZZIN","TET2","TF","TGFB1","TMPRSS6","TRNT1","WAS","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SUBCUTANEOUS_HEMORRHAGE":{"collection":"C5:HPO","systematicName":"M35529","pmid":"","exactSource":"HP:0001933","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001933","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUBCUTANEOUS_HEMORRHAGE","geneSymbols":["ABCC6","ACP5","ACTA2","ACVRL1","ADA2","ADAMTS2","AEBP1","AIP","ANKRD26","APOE","ARL6IP6","ARMC5","ARVCF","ATP7A","ATP7B","ATRX","B3GALT6","BCOR","BGN","BLOC1S3","BLOC1S5","BRAF","C1R","C1S","C2","C4A","CALR","CASP10","CBS","CD109","CD19","CD81","CDH23","CFH","CFHR1","CFHR3","CHST14","CLCN7","COG8","COL1A1","COL1A2","COL3A1","COL5A1","COL5A2","COMT","CR2","CREB3L1","CTLA4","DCLRE1B","DPP9","DSE","DTNBP1","ELN","EMILIN1","ENG","ENPP1","EPHB2","ETHE1","ETV6","F10","F13A1","F13B","F2","F5","F7","F8","FANCA","FANCC","FANCD2","FANCE","FAS","FASLG","FBN1","FCGR2C","FERMT3","FGA","FGB","FGG","FIP1L1","FKBP10","FKBP14","FLNA","FOXE3","FUCA1","FYB1","GATA1","GATA2","GBA1","GDF2","GFI1B","GGCX","GIMAP5","GNA11","GNA14","GNAS","GP1BA","GP1BB","GP6","GP9","GSN","HBA1","HBA2","HCK","HEY2","HIRA","HLA-DPA1","HLA-DPB1","HOXA11","HPS1","HPS3","HPS4","HPS5","HPS6","ICOS","IFNG","IPO8","IRF2BP2","ITGA2","ITGA2B","ITGB3","JAK2","JAM2","JMJD1C","KRAS","LCP2","LMAN1","LOX","LYST","MAP2K1","MAPK1","MAT2A","MCFD2","MFAP5","MPL","MS4A1","MTAP","MVK","MYD88","MYH11","MYH9","MYLK","MYORG","NABP1","NAGA","NBEAL2","NEU1","NFIX","NFKB1","NFKB2","NLRP3","NPM1","NR3C1","NTRK1","NUMA1","OCLN","ORAI1","P2RY12","PDE11A","PDGFB","PDGFRB","PEPD","PLAU","PLEC","PLOD1","PLOD3","PML","PRDM5","PRF1","PRKACA","PRKACG","PRKAR1A","PRKCD","PRKG1","PROC","PROS1","PRTN3","PTEN","PTPN11","PTPN22","PYCR1","RAB27A","RARA","RASGRP1","RASGRP2","RIN2","RREB1","RUNX1","SAMD9","SBDS","SCARB2","SEC24C","SERPINE1","SERPINF2","SH2B3","SIK3","SLC20A2","SLC2A10","SLC35A1","SLC37A4","SLC39A13","SLC51A","SLFN14","SMAD2","SMAD3","SMAD4","SNX10","SOS1","SPRED2","STAT3","STAT5B","STIM1","STX11","STXBP2","TBL1XR1","TBX1","TBXA2R","TCIRG1","TERC","TERT","TET2","TFR2","TGFB2","TGFB3","TGFBR1","TGFBR2","THSD4","TNFRSF13B","TNFRSF13C","TNFRSF1A","TNFSF11","TNFSF12","TNXB","TP53","TREX1","UFD1","UNC13D","USP18","USP48","USP8","VWF","WAS","WIPF1","XPR1","ZBTB16","ZNF469"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PERSISTENT_BLEEDING_AFTER_TRAUMA":{"collection":"C5:HPO","systematicName":"M35530","pmid":"","exactSource":"HP:0001934","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001934","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERSISTENT_BLEEDING_AFTER_TRAUMA","geneSymbols":["DTNBP1","F13A1","F13B","F5","F8","F9","FGA","FGB","FGG","GATA1","MCFD2","P2RY12","SERPINE1","SERPINF2","VWF"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MICROCYTIC_ANEMIA":{"collection":"C5:HPO","systematicName":"M35531","pmid":"","exactSource":"HP:0001935","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001935","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MICROCYTIC_ANEMIA","geneSymbols":["ABCB7","ACVRL1","AGGF1","ALAS2","ATRX","BCL11A","C2orf69","CARD10","CAT","CP","DNAJC19","ENG","FARSA","FDX2","FECH","GDF2","HBA1","HBA2","HBB","HBD","HBG1","HBG2","HSCB","IL6ST","IREB2","IRX5","KARS1","KLF1","LPIN2","OSTM1","PSMB8","PSTPIP1","PUS1","RIPK1","SHPK","SLC25A10","SLC25A21","SLC29A3","SLC35C1","SLC37A4","SMAD4","SMPD1","SRD5A3","SUCLA2","TAFAZZIN","TEK","TKFC","TMPRSS6","TRNT1","WAS","WIPF1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MICROANGIOPATHIC_HEMOLYTIC_ANEMIA":{"collection":"C5:HPO","systematicName":"M35532","pmid":"","exactSource":"HP:0001937","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001937","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MICROANGIOPATHIC_HEMOLYTIC_ANEMIA","geneSymbols":["ADAMTS13","C3","CD46","CFB","CFH","CFHR1","CFHR3","CFI","HELLPAR","IRAK1","SAT1","SPP1","STAT4","THBD"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_METABOLIC_ACIDOSIS":{"collection":"C5:HPO","systematicName":"M35533","pmid":"","exactSource":"HP:0001942","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001942","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_METABOLIC_ACIDOSIS","geneSymbols":["AARS2","ACADM","ACADS","ACADVL","ACAT1","AGXT","ALDH6A1","ALDOB","APRT","ATP6V0A4","ATP6V1B1","AUH","BCS1L","BTD","CA2","CA5A","CACNA1S","CAD","CLCNKB","CLDN16","CLMP","COA6","COA8","COX10","COX14","COX6B1","CPT1A","CPT2","CTNS","CUL3","CYC1","DEF6","DLD","DPYS","EHHADH","EPG5","ERCC6","FAH","FBP1","FBXL4","FH","FOCAD","GALT","GATA3","GATM","GCDH","GFM1","GK","GLYCTK","GSS","HADHB","HIBCH","HLCS","HMGCL","HNF1B","HNF4A","HPD","HSD17B10","IBA57","INVS","IVD","JAG1","KCNJ5","KLHL3","KYNU","LARS2","LCT","LRPPRC","LYRM4","MCCC1","MCCC2","MCEE","MLYCD","MMAA","MMAB","MMACHC","MMUT","MPV17","MRPL3","MRPS22","MRPS28","MT-TL1","MT-TN","MT-TS1","MTO1","MYO5B","NADK2","NDUFA2","NDUFA6","NDUFA9","NDUFAF1","NDUFAF4","NDUFAF6","NDUFAF8","NDUFB10","NDUFB11","NDUFB8","NDUFS1","NDUFS2","NDUFS7","NDUFV1","NEUROG3","NFS1","NFU1","NOTCH2","NR3C2","OCRL","OGDH","PAX2","PBX1","PC","PCCA","PCCB","PDHA1","PDHX","PET100","PHKA2","PHKB","PHKG2","PIGA","PLPBP","PLVAP","PNPO","POLG2","POLRMT","PPA2","PRDX1","RBCK1","RMND1","RRAGD","RRM2B","RYR1","SCNN1A","SCNN1B","SCNN1G","SCO1","SLC12A3","SLC25A19","SLC25A3","SLC2A2","SLC34A1","SLC37A4","SLC4A1","SLC4A4","SLC52A1","SLC5A1","STX3","SUOX","SURF1","TANGO2","TAOK1","TTC26","TUFM","UPB1","UQCC2","UQCRB","UQCRC2","UQCRH","VIPAS39","VPS33B","WNK1","WNK4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DEHYDRATION":{"collection":"C5:HPO","systematicName":"M35534","pmid":"","exactSource":"HP:0001944","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001944","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEHYDRATION","geneSymbols":["ABCA12","ABCC8","ACAD8","ACAT1","ACSF3","AGXT","AK2","ALOX12B","ALOXE3","AQP2","ASPRV1","ATP1A2","ATP1A3","ATP6V0A4","AVPR2","BLNK","BSND","CA12","CACNA1A","CD79A","CD79B","CDKN1A","CDKN1B","CDKN2B","CDKN2C","CFTR","CLCNKA","CLCNKB","CLMP","CLPB","CTNS","CYC1","CYP11A1","CYP11B2","CYP24A1","CYP4F22","DBH","EGFR","EHHADH","EIF2AK3","EPCAM","ERCC6","FCGR2A","GATM","GCK","HMGCL","HSD3B2","HYMAI","IGHM","IGLL1","INS","IVD","KCNJ1","KCNJ11","LAMA3","LAMB3","LAMC2","LCT","LIPN","LRRC8A","MCEE","MEN1","MMAA","MMAB","MMACHC","MMUT","MRPS28","MYO5B","NARS2","NDUFAF6","NEUROG3","NIPAL4","NLRP3","NR0B1","NR3C2","OCRL","PCCA","PCCB","PDX1","PERCC1","PIK3R1","PKHD1","PLAGL1","SCNN1A","SCNN1B","SCNN1G","SDR9C7","SLC12A1","SLC1A3","SLC22A5","SLC26A3","SLC34A1","SLC39A7","SLC5A1","SLC5A2","SPI1","SPINK5","STAT3","STX3","SULT2B1","TCF3","TGFB1","TGM1","UNC45A","VPS33B","ZFP57"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FEVER":{"collection":"C5:HPO","systematicName":"M35535","pmid":"","exactSource":"HP:0001945","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001945","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FEVER","geneSymbols":["ABCC2","ABCC6","ABL1","ACAT1","ACTN4","ADA","ADA2","ADAMTS13","ADAR","AK2","ALDOA","ALPK1","ALPL","ANK1","ANKFY1","ANKRD55","ANLN","AP1S3","APOL1","AQP2","ARHGAP24","ARHGDIA","ASAH1","ASXL1","ATM","ATP13A2","ATP1A2","ATP5F1B","AVP","AVPR2","BACH2","BCAP31","BCL10","BCL2","BCL6","BCOR","BCR","BIRC3","BLNK","BRCA1","BRCA2","BTK","BTNL2","C1QB","C2orf69","C3","C4A","CACNA1A","CACNA1S","CALR","CASK","CCND1","CCR1","CD244","CD247","CD27","CD2AP","CD3D","CD3E","CD70","CD79A","CD79B","CEBPE","CFH","CFHR1","CFHR3","CFTR","CHD7","CHEK2","CIITA","CLPB","COG6","COG7","COL1A1","COL4A3","COQ8B","CPOX","CPT2","CR2","CRB2","CRLF1","CRLS1","CTLA4","CTRC","CYBA","CYBB","CYBC1","CYP11B2","CYP21A2","DAAM2","DCLRE1C","DDB2","DEF6","DIS3L2","DNASE2","DOCK2","DPP9","DST","EDA","EIF2AK3","EIF2B1","ELANE","ELF4","ELP1","EMP2","ENPP1","EPB41","EPB42","ERAP1","ERCC2","ERCC3","ERCC4","ERCC5","F5","FAH","FAS","FBP1","FCGR3B","FIP1L1","FOCAD","FOXP1","G6PD","GAA","GALC","GAPVD1","GATA2","GCH1","GFI1","GLA","GPC3","GPR35","GYPC","H19","H4C5","HAVCR2","HBB","HEPHL1","HLA-B","HLA-DPA1","HLA-DPB1","HLA-DRB1","HMBS","HMGCL","HNRNPK","HTR1A","IBA57","IFIH1","IFNG","IFNGR1","IGHM","IGLL1","IKZF1","IL10","IL12A","IL12A-AS1","IL12B","IL1R1","IL23R","IL2RA","IL2RB","IL2RG","IL36RN","IL6","IL6ST","IL7R","INF2","IRAK1","IRF2BP2","IRF4","IRF8","ITK","JAK2","KCNJ1","KIF1B","KIT","KLHL7","KLRC4","KRT18","LACC1","LAMA3","LAMB3","LAMC2","LBR","LCK","LIFR","LIG4","LIPA","LPIN1","LPIN2","LRRC8A","LSM11","LYST","MAGI2","MALT1","MCM10","MEFV","MIF","MLX","MPL","MRPS7","MST1","MT-ATP6","MT-CO1","MT-CO2","MT-CO3","MT-CYB","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND5","MT-ND6","MT-TF","MT-TH","MT-TK","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TV","MT-TW","MTHFR","MTHFS","MVK","MYD88","MYO1E","NAB2","NABP1","NAXD","NCF1","NCF2","NCF4","NDUFA2","NFKBIL1","NGF","NGLY1","NKX2-1","NLRC4","NLRP1","NLRP12","NLRP3","NOD2","NPHS1","NPHS2","NPM1","NTRK1","NUAK2","NUMA1","NUP107","NUP133","NUP160","NUP205","NUP37","NUP85","NUP93","OBSCN","ORAI1","OTULIN","P4HA2","P4HTM","PAX2","PEX6","PIK3CG","PIK3R1","PKHD1","PLCE1","PML","PMM2","PMP22","POLR3A","POMP","POU6F2","PRF1","PRKAR1A","PRKCD","PRNP","PRSS1","PRSS2","PRTN3","PSAP","PSMB10","PSMB4","PSMB8","PSMB9","PSMG2","PSTPIP1","PTPN2","PTPN22","PTPN3","PTPRC","PTPRO","PTS","QDPR","RAB27A","RAG1","RAG2","RANBP2","RARA","RB1","RBCK1","REL","REST","RIPK1","RMRP","RNASEH2A","RNASEH2B","RNASEH2C","RNF168","RNU4ATAC","RNU7-1","RUNX1","RYR1","SAMHD1","SAT1","SCNN1A","SCNN1B","SCNN1G","SCYL1","SEMA4D","SH2B3","SH2D1A","SH3KBP1","SLC11A1","SLC12A1","SLC12A3","SLC19A3","SLC22A4","SLC29A3","SLC34A2","SLC35C1","SLC39A7","SLC41A1","SLC4A1","SLC5A1","SMARCAL1","SPI1","SPINK1","SPP1","SPTA1","SPTB","SPTBN1","SRP19","SRP54","SRSF2","STAT1","STAT2","STAT3","STAT4","STAT5B","STAT6","STIM1","STING1","STK4","STX11","STXBP2","SYK","TBC1D8B","TBK1","TBL1XR1","TCF3","TCF4","TCIRG1","TET2","TH","TICAM1","TLR3","TLR4","TLR7","TMEM165","TNFAIP3","TNFRSF1A","TP53","TRAF3","TRANK1","TREX1","TRIM28","TRIP13","TRNT1","TRPC6","TSC1","TSC2","TSPOAP1","UBA1","UBAC2","UNC13D","UNC93B1","UQCRH","VANGL2","WAS","WDR1","WIPF1","WT1","XIAP","XPA","XPC","ZBTB16","ZFHX2","ZFYVE19","ZNF699","ZNFX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_KETOSIS":{"collection":"C5:HPO","systematicName":"M35536","pmid":"","exactSource":"HP:0001946","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001946","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_KETOSIS","geneSymbols":["ABCC8","ABHD5","ACADM","ACAT1","ACSF3","APPL1","ATP5F1D","BCKDHA","BCKDHB","BLK","BTD","CA5A","CEL","CIDEC","CLCNKB","COX6B1","CYC1","DBT","DLD","EIF2AK3","FBP1","GCDH","GCK","GHSR","GK","GYS2","HNF1A","HNF4A","HYMAI","IL6","INS","INSR","ITPR3","IVD","KARS1","KCNJ11","KLF11","LRPPRC","LYRM4","MCCC2","MLYCD","MMAA","MMAB","MMUT","MRPL3","NEUROD1","OXCT1","PAX4","PDX1","PHKA2","PHKG2","PLAGL1","POLG","POLG2","POLR3K","PPP1R15B","PTPN22","PYGL","RRM2B","SHOX","SLC12A3","SLC16A1","SLC22A5","SLC25A4","SLC37A4","SLC5A2","SUGCT","TRMT10A","TWNK","ZFP57"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RENAL_TUBULAR_ACIDOSIS":{"collection":"C5:HPO","systematicName":"M35537","pmid":"","exactSource":"HP:0001947","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001947","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RENAL_TUBULAR_ACIDOSIS","geneSymbols":["ALDOB","ATP6V0A4","ATP6V1B1","BCS1L","CA2","CAD","CLCNKB","CLDN16","COA8","CPT1A","CTNS","EHHADH","EPG5","FAH","FBXL4","GATA3","GATM","HNF1B","HNF4A","JAG1","KYNU","MT-TL1","MT-TN","MT-TS1","NADK2","NDUFAF6","NOTCH2","OCRL","PC","PHKA2","PHKB","PHKG2","PIGA","POLRMT","RMND1","RRM2B","SLC12A3","SLC2A2","SLC34A1","SLC4A1","SLC4A4","SURF1","TAOK1","UQCC2","VIPAS39","VPS33B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ALKALOSIS":{"collection":"C5:HPO","systematicName":"M35538","pmid":"","exactSource":"HP:0001948","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001948","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ALKALOSIS","geneSymbols":["AIP","ASL","ASS1","BSND","CA5A","CACNA1D","CLCN2","CLCNKA","CLCNKB","CPS1","CYP17A1","HLA-B","HSD11B2","IKZF1","KCNJ1","KCNJ10","KCNJ5","NARS2","NR3C1","OTC","SARS2","SCNN1A","SCNN1B","SCNN1G","SLC12A1","SLC12A3","SLC25A15","SLC26A3","USP8"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPOKALEMIC_ALKALOSIS":{"collection":"C5:HPO","systematicName":"M35539","pmid":"","exactSource":"HP:0001949","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001949","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOKALEMIC_ALKALOSIS","geneSymbols":["BSND","CLCNKA","CLCNKB","CYP17A1","HLA-B","HSD11B2","IKZF1","KCNJ1","KCNJ10","SCNN1B","SLC12A1","SLC12A3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RESPIRATORY_ALKALOSIS":{"collection":"C5:HPO","systematicName":"M35540","pmid":"","exactSource":"HP:0001950","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001950","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RESPIRATORY_ALKALOSIS","geneSymbols":["ASL","ASS1","CA5A","CPS1","OTC","SLC25A15"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DIABETIC_KETOACIDOSIS":{"collection":"C5:HPO","systematicName":"M41248","pmid":"","exactSource":"HP:0001953","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001953","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DIABETIC_KETOACIDOSIS","geneSymbols":["ABCC8","APPL1","BLK","CEL","CIDEC","CLCNKB","GCK","HNF1A","HNF4A","HYMAI","INS","INSR","KCNJ11","KLF11","NEUROD1","PAX4","PDX1","PLAGL1","SLC12A3","ZFP57"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RECURRENT_FEVER":{"collection":"C5:HPO","systematicName":"M35542","pmid":"","exactSource":"HP:0001954","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001954","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_FEVER","geneSymbols":["ADA","ADA2","ALPK1","ASAH1","ATP5F1B","BCAP31","C2orf69","C3","CD70","CEBPE","COG6","COG7","CRLF1","CYP11B2","CYP21A2","DEF6","DNASE2","DOCK2","DPP9","ELANE","ELF4","ELP1","FOCAD","GALC","GCH1","H4C5","HBB","HEPHL1","HNRNPK","IBA57","IFIH1","IL2RG","IL6ST","ITK","LACC1","LIFR","LPIN2","MEFV","MVK","NAXD","NGF","NLRC4","NLRP1","NLRP12","NLRP3","NOD2","NTRK1","ORAI1","OTULIN","PEX6","PMP22","PRF1","PRKCD","PSMB4","PSMB8","PSMB9","PSMG2","PTS","QDPR","RBCK1","REL","RIPK1","RNF168","RNU4ATAC","SH2D1A","SH3KBP1","SLC12A3","SLC29A3","SLC35C1","SLC41A1","SPTBN1","STAT2","STIM1","STING1","STK4","STX11","STXBP2","SYK","TLR7","TNFAIP3","TNFRSF1A","TRNT1","UBA1","WDR1","XIAP","ZFHX2","ZNFX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_UNEXPLAINED_FEVERS":{"collection":"C5:HPO","systematicName":"M35543","pmid":"","exactSource":"HP:0001955","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001955","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UNEXPLAINED_FEVERS","geneSymbols":["ADAR","AQP2","AVPR2","CRLS1","GALC","IFIH1","LAMA3","LAMB3","LAMC2","LSM11","NKX2-1","NTRK1","PSAP","RNASEH2A","RNASEH2B","RNASEH2C","RNU7-1","SAMHD1","TMEM165","TREX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_TRUNCAL_OBESITY":{"collection":"C5:HPO","systematicName":"M35544","pmid":"","exactSource":"HP:0001956","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001956","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TRUNCAL_OBESITY","geneSymbols":["ADNP","AKT2","ALMS1","ARL6","ATRX","BBS1","BBS9","BPTF","BRAF","BRD4","CCDC28B","CDH23","CFAP410","CREBBP","DLK1","DYRK1B","EP300","FMR1","GHR","GJA5","GJA8","GNAS","HDAC8","IGF1","IGF1R","IGFALS","INPP5E","LAS1L","MAN1B1","MC4R","MEG3","NIPBL","NR3C1","PCNT","PCSK1","PDE11A","PHF6","PIGA","POMC","PRKAR1A","PSMD12","RAD21","RNPC3","RTL1","SLC10A7","SLC7A7","SMC1A","SMC3","THOC2","TP53","TRAPPC9","USP48","USP8","VPS13B","WAC","XRCC4","XYLT1","ZBTB20"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NONKETOTIC_HYPOGLYCEMIA":{"collection":"C5:HPO","systematicName":"M35545","pmid":"","exactSource":"HP:0001958","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001958","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NONKETOTIC_HYPOGLYCEMIA","geneSymbols":["ACAD9","ACADVL","AKT2","CPT2","FGF20","GFRA1","GREB1L","HMGCL","ITGA8","MEN1","RET","WNT9B","YY1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPOKALEMIC_METABOLIC_ALKALOSIS":{"collection":"C5:HPO","systematicName":"M35546","pmid":"","exactSource":"HP:0001960","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001960","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOKALEMIC_METABOLIC_ALKALOSIS","geneSymbols":["BSND","CLCNKA","CLCNKB","HLA-B","HSD11B2","IKZF1","KCNJ1","KCNJ10","SLC12A1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPOPLASTIC_HEART":{"collection":"C5:HPO","systematicName":"M35547","pmid":"","exactSource":"HP:0001961","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001961","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASTIC_HEART","geneSymbols":["ARHGAP31","ATP6V1A","B3GLCT","CCDC22","CDK8","CFAP53","CHRNA1","CHRND","CHRNG","CIROP","COQ4","CPLANE1","CREBBP","CTU2","DPYSL5","DTNA","DVL3","EP300","FLI1","FOXF1","GATA4","GATA5","GATA6","GJA1","GNB2","H3-3B","HAAO","IFT27","KYNU","MCTP2","MKKS","MYRF","NADSYN1","NKX2-5","NOTCH1","NR2F2","PAH","PKD1L1","PLXND1","SMAD6","SPOP","STAG2","TBX1","TBX5","TMEM218","TRAF7","VPS35L","WASHC5","WT1","ZIC3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PALPITATIONS":{"collection":"C5:HPO","systematicName":"M35548","pmid":"","exactSource":"HP:0001962","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001962","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PALPITATIONS","geneSymbols":["ABCC8","ABCC9","ACTC1","ADAMTS19","ATRX","BVES","CACNA1S","CACNA2D1","CAV3","CCND1","CDH2","CDH23","CDKN2A","CITED2","CLCNKB","CNBP","CTNNB1","DAXX","DLST","DNMT3A","DSC2","DSG2","DTNA","EMD","EPAS1","FH","GABRA3","GATA4","GATA5","GATA6","GCGR","GJA5","GYG1","HNF1A","ISCU","JPH2","JUP","KCNA5","KCND3","KCNE1","KCNE2","KCNH2","KCNJ11","KCNJ18","KCNJ2","KCNJ3","KCNJ5","KCNQ1","KIF1B","KLHL24","MAX","MDH2","MEN1","MYH6","MYL2","MYL3","MYL4","MYOZ2","NF1","NKX2-5","NKX2-6","NPPA","NUP155","PITX2","PKP2","PNPLA2","POLG","POLG2","PRKAG2","PRKAR1A","RET","RRM2B","SCN1B","SCN2B","SCN3B","SCN4B","SCN5A","SCN9A","SDHA","SDHAF2","SDHB","SDHC","SDHD","SLC12A3","SLC25A11","SLC25A4","SLC4A3","TBX20","TECRL","TERT","TLL1","TMEM126B","TMEM127","TMEM43","TP53","TTN","TWNK","UCP2","VHL","YY1","ZNRF3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APLASIA_HYPOPLASIA_OF_METATARSAL_BONES":{"collection":"C5:HPO","systematicName":"M35549","pmid":"","exactSource":"HP:0001964","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001964","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_METATARSAL_BONES","geneSymbols":["B3GLCT","BMPR1B","CANT1","CDC42BPB","CHSY1","COG4","COL2A1","DCHS1","DYM","EP300","EZH2","FAT4","FBN1","FGFR1","FGFR2","FIG4","FLNA","FLNB","GDF5","GNAS","HDAC4","HEPHL1","HINT1","HOXA13","HOXD13","IFT140","IFT52","IQCE","KCNJ2","KNSTRN","LMBR1","LZTFL1","MAP3K7","NPR2","PDE4D","PEX7","PHYH","PIGS","PIK3CD","POC1A","PORCN","PRKAR1A","PRKG2","PRMT7","PTHLH","RAB33B","RBPJ","RIPK4","RSPRY1","SALL1","SIL1","SLC26A2","SMARCA2","SRY","TCF4","TP63","TRPS1","TRPV4","TWIST1","VPS13B","VPS35L","WNT7A","ZNF407"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_SCALP_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M35550","pmid":"","exactSource":"HP:0001965","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001965","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SCALP_MORPHOLOGY","geneSymbols":["AARS1","ABCC9","ACD","ACTB","ACTG1","ADA2","ADAM17","ADARB1","ADNP","AEBP1","AGPAT2","AHSG","AIFM1","ALDOA","ALG11","ALG12","ALG9","ALX1","ALX3","ALX4","ANKRD11","ANKRD17","ANTXR1","APC","APC2","APCDD1","ARHGEF2","ARID1A","ARID1B","ARID2","ARX","ASH1L","ASXL1","ATP6V1B2","ATR","ATRIP","ATRX","AXIN2","B3GALT6","B3GAT3","B4GALT7","BANF1","BICRA","BRAF","BRCA1","BRD4","BSCL2","C3orf52","CACNA1C","CARS1","CAV1","CAVIN1","CBL","CBS","CCDC22","CCNK","CDC42BPB","CDH1","CDH2","CDH23","CDH3","CDK13","CDK5","CDSN","CENPE","CENPJ","CEP152","CHN1","CHRNG","CHST3","CIT","CLCN3","CLDN1","CNOT3","COG5","COG7","COL17A1","COL18A1","COL3A1","COL7A1","CPLX1","CPOX","CREBBP","CRIPT","CST6","CTBP1","CWC27","DCLRE1B","DCLRE1C","DEAF1","DHX30","DKC1","DLX4","DNA2","DOCK6","DOCK7","DPF2","DPH1","DPH2","DPM2","DSC3","DSG4","EBP","ECM1","EDARADD","EDEM3","EFNB1","EGFR","EIF5A","EMC1","EP300","EPS8L3","ERCC2","ERCC3","ERMARD","EXT1","FAS","FAT4","FGD1","FGFR2","FGFR3","FGFRL1","FIG4","FKRP","FLI1","FLNA","FOS","FRAS1","FREM1","FREM2","FRMD4A","GATA1","GDF11","GDF3","GDF6","GJA1","GJB2","GJB6","GMPPA","GNB2","GNE","GTF2E2","GTF2H5","H1-4","H3-3A","H4C5","HDAC4","HDAC8","HEATR3","HLA-DRA","HNF1B","HPGD","HR","HRURF","HS2ST1","HSPG2","HTRA1","HUWE1","HYOU1","IFIH1","IFT140","IGF1","IGF1R","INSR","INTU","IPO8","IRX5","ITGA3","ITGB4","ITGB6","JARID2","JUP","KANK2","KAT6B","KCNH1","KCNJ8","KCNN3","KCTD1","KDF1","KDM1A","KDM4B","KIFBP","KLHL24","KMT2A","KNSTRN","KRAS","KREMEN1","KRT14","KRT17","KRT25","KRT74","LAMA3","LAMB3","LAMC2","LETM1","LIG4","LIPH","LMNA","LMX1B","LPAR6","LRP2","LRPPRC","LSS","LTV1","LZTR1","MAB21L1","MADD","MAF","MAFB","MAN2B1","MAP2K1","MAP2K2","MAP3K7","MAPK1","MAPRE2","MBD5","MBTPS2","MED12","MED13L","MED25","MEGF8","MEIS2","MEOX1","MGAT2","MID1","MMP1","MPLKIP","MRAS","MSX2","MYH3","MYO18B","NANS","NBN","NDE1","NECTIN4","NELFA","NEPRO","NF1","NFIX","NFKBIA","NHP2","NIPBL","NOP10","NOTCH2","NOTCH3","NOVA2","NR3C1","NRAS","NSD1","NSD2","NSUN2","NTRK1","NUDT2","NUP85","OCRL","ODC1","PACS1","PARN","PCGF2","PCNT","PEPD","PEX1","PEX19","PEX6","PGAP1","PHF8","PI4KA","PIGG","PIGK","PIK3C2A","PIK3CD","PKP1","PLEC","PLK4","POLR1B","POLR1C","POLR1D","POLR3A","PPARG","PPP1CB","PPP1R15B","PRDM13","PRKD1","PTDSS1","PTPN11","PTPN22","RAB18","RAB3GAP1","RAB3GAP2","RAD21","RAF1","RALGAPA1","RASA2","RBBP8","RBL2","RECQL4","RERE","RHOA","RHOBTB2","RIN2","RIPK4","RIT1","RNF113A","RNU12","RNU4ATAC","RPL11","RPL15","RPL18","RPL21","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS7","RRAS","RRAS2","RTEL1","SALL4","SASH1","SATB1","SCNM1","SETD2","SETD5","SH2B1","SHOC2","SIN3A","SLC12A6","SLC25A24","SLC27A4","SLC29A3","SLC35C1","SLC39A4","SLC9A7","SLCO2A1","SMARCA2","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SMC1A","SMC3","SMO","SMPD4","SNRPE","SOS1","SOS2","SOX11","SOX18","SOX4","SPATA5L1","SPECC1L","SPEN","SPINK5","SPOP","SPRED1","SPRED2","SRCAP","SRY","STAG2","STT3A","SVBP","SYT1","TAF6","TARS1","TBC1D20","TBC1D24","TBL1XR1","TBX15","TBX2","TCF12","TCOF1","TECPR2","TERT","TFAP2A","THOC6","TINF2","TMCO1","TP53","TP63","TRAIP","TRIO","TRMT10A","TRPM3","TRPS1","TSC1","TSPEAR","TSR2","TTC5","TTC7A","TWIST1","TWIST2","UBA2","UBE2A","UBR1","UGP2","UROD","UROS","USB1","USP48","USP8","VAC14","VPS13B","VPS33A","VPS51","WASHC5","WBP11","WLS","WNT10A","WNT4","WRN","XRCC4","XYLT2","ZBTB20","ZC4H2","ZIC1","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_GLOMERULAR_MESANGIUM_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M35551","pmid":"","exactSource":"HP:0001966","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001966","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_GLOMERULAR_MESANGIUM_MORPHOLOGY","geneSymbols":["ACTN4","ADA","ANKFY1","ANLN","APOE","APOL1","ARHGAP24","ARHGDIA","AVIL","CD2AP","CD81","CFHR5","COL4A3","COPA","COQ6","COQ8B","CRB2","DAAM2","EMP2","FN1","GAPVD1","GON7","INF2","KIRREL1","LAMB2","MAGI2","MYO1E","NPHS1","NPHS2","NUP107","NUP133","NUP160","NUP205","NUP37","NUP85","NUP93","OSGEP","PAX2","PLCE1","PTPRO","SGPL1","SPRY2","TBC1D8B","TP53RK","TRPC6","WDR73","WT1","YRDC"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_TUBULOINTERSTITIAL_NEPHRITIS":{"collection":"C5:HPO","systematicName":"M35554","pmid":"","exactSource":"HP:0001970","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001970","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TUBULOINTERSTITIAL_NEPHRITIS","geneSymbols":["ALMS1","BCS1L","BTNL2","CEP83","CLCNKB","CPT2","DPH1","DPH2","FAN1","FOXC2","FOXP3","HLA-DRB1","IFT122","INVS","MMUT","MRPL3","MUC1","PUS3","SLC12A3","SLC30A9","SLC7A7","TRAF3IP1","WDR19"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPERSPLENISM":{"collection":"C5:HPO","systematicName":"M35555","pmid":"","exactSource":"HP:0001971","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001971","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERSPLENISM","geneSymbols":["ASXL1","CASP10","CBL","DZIP1L","FAS","FASLG","GBA1","HBB","ITCH","LIPA","MED12","NOTCH1","PKHD1","PRKCD","PSAP","RASGRP1","RUNX1","SCARB2","SMPD1","SRSF2","TET2","TULP3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MACROCYTIC_ANEMIA":{"collection":"C5:HPO","systematicName":"M35556","pmid":"","exactSource":"HP:0001972","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001972","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MACROCYTIC_ANEMIA","geneSymbols":["ADA2","ALAS2","AMN","CBLIF","CDAN1","COX10","CUBN","DHFR","DNAJC21","DNM1L","EFL1","FTCD","GATA1","HEATR3","HLA-DQA1","HLA-DQB1","HPRT1","KCNN4","KIF23","LARS1","LMBRD1","MMACHC","MMADHC","MTHFD1","MTR","MTRR","OPA1","PHGDH","PIEZO1","PRDX1","PSMC1","RAC2","RACGAP1","RHAG","RHCE","RHD","RMRP","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS14","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS7","SBDS","SFXN4","SLC19A1","SLC19A2","SLC46A1","SLC4A1","SRP54","TCN2","TET2","TPI1","TSR2","UBA1","UMPS","WFS1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_AUTOIMMUNE_THROMBOCYTOPENIA":{"collection":"C5:HPO","systematicName":"M35557","pmid":"","exactSource":"HP:0001973","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001973","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AUTOIMMUNE_THROMBOCYTOPENIA","geneSymbols":["ACP5","ADA","ARHGEF1","CASP10","CD19","CD81","CIITA","CR2","CTLA4","CTNNBL1","FAS","FASLG","FOXP3","GALC","ICOS","IL7R","IRF2BP2","ITK","KDM6A","KMT2D","KRAS","LAT","LRBA","MAGT1","MS4A1","NFKB1","NFKB2","NRAS","PNP","PRKCD","RASGRP1","RFX5","RFXANK","RFXAP","SASH3","SMPD1","SOCS1","STAT1","STAT3","TLR7","TNFRSF13B","TNFRSF13C","TNFSF12","TOM1","TPP2","ZAP70"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LEUKOCYTOSIS":{"collection":"C5:HPO","systematicName":"M35558","pmid":"","exactSource":"HP:0001974","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001974","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LEUKOCYTOSIS","geneSymbols":["ABL1","ACAT1","ADA","ADA2","AGR2","ANKRD26","AP1S3","ARPC1B","ASXL1","ATRX","BCL11B","BCOR","BCR","BRAF","BTNL2","CALR","CAPN3","CARD11","CARD9","CASK","CASP10","CASR","CBL","CD247","CD3D","CD3E","CDH23","CDSN","CFTR","CHD7","CLPB","CPA1","CTRC","DCLRE1C","DOCK8","EIF2AK3","ELANE","ELF4","EXTL3","FAS","FASLG","FERMT3","FIP1L1","FOCAD","FOXP3","G6PD","GATA2","GFI1","HBB","HLA-DRB1","HMGCL","IFNG","IFNGR1","IKBKG","IL2RG","IL36RN","IL37","IL6ST","IL7R","IPO8","IRF2BP2","IRF8","ITGB2","JAK1","JAK2","KIT","KRAS","LACC1","LIG4","LMNB2","LPIN2","MEFV","MICU1","MPL","MVK","NABP1","NCKAP1L","NFKBIA","NHLRC2","NLRP1","NLRP12","NLRP3","NPM1","NR3C1","NRAS","NUMA1","OAS1","OSTM1","OTULIN","PDGFRA","PDGFRB","PGM3","PIK3CD","PIK3CG","PKHD1","PML","PRKAR1A","PRKCD","PRSS1","PRSS2","PTPRC","RAC2","RAG1","RAG2","RARA","RASGRP1","RBCK1","RBM8A","REL","RMRP","RNASEH2B","RNU4ATAC","RUNX1","SALL4","SF3B1","SH2D1A","SLC27A4","SLC35C1","SLC46A1","SPINK1","SPINK5","SREBF1","SRP19","SRP54","SRSF2","STAT2","STAT3","STAT5B","TBK1","TBL1XR1","TBX21","TCIRG1","TET2","TGFB1","TICAM1","TLR3","TNFRSF1A","TP53","TRAC","TRAF3","TTC7A","UNC93B1","USP48","USP8","WAS","XIAP","XRCC4","ZAP70","ZBTB16","ZNF341","ZPR1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_REDUCED_ANTITHROMBIN_III_ACTIVITY":{"collection":"C5:HPO","systematicName":"M35559","pmid":"","exactSource":"HP:0001976","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001976","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_ANTITHROMBIN_III_ACTIVITY","geneSymbols":["AHCY","ALG12","ALG6","ALG8","B4GALT1","DPAGT1","DPM1","DPM2","MGAT2","MPI","PGM1","PMM2","SERPINC1","SLC37A4","SRD5A3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_THROMBOSIS":{"collection":"C5:HPO","systematicName":"M35560","pmid":"","exactSource":"HP:0001977","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001977","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_THROMBOSIS","geneSymbols":["ABCC9","ACVRL1","ADA2","AGGF1","AKT1","ALG6","BCOR","BMPR2","C4A","CALR","CASR","CBS","CCR1","CD46","CD55","CFH","CFI","CFTR","CITED2","CPA1","CTLA4","CTNNB1","CTRC","ENG","EPAS1","EPOR","ERAP1","F12","F13A1","F2","F5","F8","F9","FAS","FCGR2C","FGA","FGB","FGG","FIP1L1","FLNC","GATA4","GATA5","GATA6","GDF2","GJA5","GNAQ","HABP2","HBB","HELLPAR","HLA-B","HLA-DPA1","HLA-DPB1","HLA-DRB1","HRG","IDH1","IDH2","IFNGR1","IL10","IL12A","IL12A-AS1","IL23R","IL6ST","IRF2BP2","JAK2","KCNA5","KCNE1","KCNE2","KCNJ2","KCNJ3","KCNJ5","KCNK3","KCNN4","KCNQ1","KIF11","KIF20A","KLRC4","LIPA","LPIN1","MEFV","MET","MMACHC","MPI","MPL","MT-CO1","MT-CO3","MT-CYB","MTHFR","MTRR","MYH7","MYH9","MYL4","MYPN","NABP1","NFS1","NKX2-5","NKX2-6","NLRC4","NOTCH1","NPM1","NPPA","NUMA1","NUP155","OBSCN","P4HA2","PDE11A","PDGFRA","PGM1","PIEZO1","PIGA","PIGM","PITX2","PLG","PML","PMM2","PRDX1","PRKAR1A","PROC","PRORP","PROS1","PRSS1","PRSS2","PRTN3","PTEN","PTH1R","PTPN22","RARA","RASA1","RFT1","RHAG","RYR1","SAA1","SCN1B","SCN2B","SCN3B","SCN4B","SCN5A","SERPINC1","SERPIND1","SH2B3","SLC2A10","SLC4A1","SMAD4","SPINK1","STAT3","STAT4","STAT5B","TBL1XR1","TET2","TGFB2","THBD","THPO","TLL1","TLR4","TNNI3","TNNT2","TP53","TTN","TTR","UBA1","UBAC2","VHL","ZBTB16"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_EXTRAMEDULLARY_HEMATOPOIESIS":{"collection":"C5:HPO","systematicName":"M35561","pmid":"","exactSource":"HP:0001978","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001978","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EXTRAMEDULLARY_HEMATOPOIESIS","geneSymbols":["AKR1D1","ANK1","CA2","CALR","EPB42","FERMT3","FGFR2","HBB","JAK2","LARS2","MPL","OSTM1","RBM10","SLC4A1","SPTA1","SPTB","TET2","TNFSF11","VPS45"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SCHISTOCYTOSIS":{"collection":"C5:HPO","systematicName":"M35563","pmid":"","exactSource":"HP:0001981","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001981","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SCHISTOCYTOSIS","geneSymbols":["ADAMTS13","CAD","CDAN1","CFH","CFHR1","CFHR3","KCNN4","KLF1","PIEZO1","SC5D","SLC19A1","SLC4A1","TRNT1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SEA_BLUE_HISTIOCYTOSIS":{"collection":"C5:HPO","systematicName":"M35564","pmid":"","exactSource":"HP:0001982","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001982","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEA_BLUE_HISTIOCYTOSIS","geneSymbols":["APOE","GLB1","NPC1","NPC2","SMPD1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPOKETOTIC_HYPOGLYCEMIA":{"collection":"C5:HPO","systematicName":"M35565","pmid":"","exactSource":"HP:0001985","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001985","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOKETOTIC_HYPOGLYCEMIA","geneSymbols":["ABCC8","ACADVL","AKT2","CPT1A","CPT2","DOLK","GCK","HADH","HADHA","HADHB","HNF1A","HNF4A","KCNJ11","SLC25A20","UCP2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPERTONIC_DEHYDRATION":{"collection":"C5:HPO","systematicName":"M41249","pmid":"","exactSource":"HP:0001986","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001986","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERTONIC_DEHYDRATION","geneSymbols":["AQP2","AVPR2","CA12","SLC5A1","SPINK5"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPERAMMONEMIA":{"collection":"C5:HPO","systematicName":"M35566","pmid":"","exactSource":"HP:0001987","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001987","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERAMMONEMIA","geneSymbols":["AASS","ACAD9","ACADM","ACADVL","ACAT1","ALDH18A1","ALG11","ARG1","ASL","ASS1","ATP5F1A","ATP5F1B","ATP5F1D","ATP5F1E","ATP5MK","ATPAF1","ATPAF2","BTD","CA5A","CAD","CARS2","COX6B1","CPS1","CPT1A","CPT2","CYC1","DLD","EIF2AK3","FBXL4","FOCAD","GLUD1","GLUL","GOT2","HADH","HADHA","HADHB","HLCS","HMGCL","HSD17B10","IARS1","LRPPRC","MARS1","MCCC1","MCCC2","MECP2","MMAA","MMAB","MMACHC","MMUT","MRM2","MRPS22","MT-ATP6","MT-ATP8","MTO1","NAGS","NBAS","NDUFA6","NR1H4","OTC","PCCA","PCCB","PDHB","RINT1","SERAC1","SLC22A5","SLC25A13","SLC25A15","SLC25A20","SLC25A36","SLC25A42","SLC7A7","TANGO2","TMEM70","TSFM","TUFM","UQCRC2","UQCRH"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RECURRENT_HYPOGLYCEMIA":{"collection":"C5:HPO","systematicName":"M35567","pmid":"","exactSource":"HP:0001988","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001988","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_HYPOGLYCEMIA","geneSymbols":["ACSL5","ALG12","BCS1L","GCK","HMGCL","INSR","KCNJ11","MC2R","MEN1","MPV17","MRAP","NAB2","NFKB2","PAK1","PHKB","PPP1R15B","ROBO1","SLC22A5","STAT6","UCP2","YY1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FETAL_AKINESIA_SEQUENCE":{"collection":"C5:HPO","systematicName":"M35568","pmid":"","exactSource":"HP:0001989","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001989","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FETAL_AKINESIA_SEQUENCE","geneSymbols":["ACTA1","ATP1A2","CHRNA1","CHRND","CHRNG","CNTN1","CNTNAP1","DOK7","DPAGT1","GBA1","GLE1","KBTBD13","KIF21A","KIF5C","KLHL40","KLHL41","LGI4","MAGEL2","MUSK","MYOD1","MYPN","NEB","NEK9","NUP88","PHGDH","PIGS","RAPSN","RYR1","SLC18A3","TPM2","TPM3","TRPV4","TUBA1A","ZC4H2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APLASIA_HYPOPLASIA_OF_TOE":{"collection":"C5:HPO","systematicName":"M35569","pmid":"","exactSource":"HP:0001991","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001991","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_TOE","geneSymbols":["ABCC9","ACVR1","ADA","ADAMTS2","ADNP","ALMS1","ALOX12B","ALOXE3","APC","ARHGAP31","ARID1B","ARSL","ASAH1","ASXL1","B3GLCT","BHLHA9","BMP2","BMPR1B","BPNT2","C12orf57","CHD7","CHST11","CHSY1","COL2A1","COX4I1","CPLX1","CTBP1","DACT1","DCLRE1C","DHCR7","DLL4","DLX5","DNMT3A","DOCK6","DYRK1A","EIF4A3","EOGT","EP300","FGFR1","FGFR2","FGFR3","FGFRL1","FIG4","FLI1","FLNA","GDF5","GHR","GJA1","GLI3","GNAS","GPC3","GPC4","GPX4","GRIP1","HBA1","HBA2","HDAC4","HEATR3","HOXA13","HOXD13","IFT122","IFT140","IHH","IL2RG","IL7R","KAT6A","KCNH1","KCNJ8","KCNN3","KMT2A","LETM1","LIG4","LMBR1","LMNA","LRP4","MAP3K20","MGP","MIA3","MYCN","NEK1","NELFA","NOG","NOTCH1","NOTCH2","NPR2","NSD2","NSDHL","OFD1","PDE4D","PHF6","PIGF","PIGG","PIGV","PORCN","PRKAR1A","PRKG2","PTH1R","PTHLH","PUF60","RAB3GAP2","RAG1","RAG2","RBPJ","RIPK4","RMRP","RNU4ATAC","ROBO1","ROR2","SALL1","SALL4","SF3B4","SHOX","SLC26A2","SMAD4","SMARCA4","SMOC1","SOX9","SPECC1L","SVBP","TBL1XR1","TBX22","TBX3","TGDS","TNNT3","TPR","TRPV4","VAC14","WASF1","WNT10B","WNT7A","ZMIZ1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ORGANIC_ACIDURIA":{"collection":"C5:HPO","systematicName":"M35570","pmid":"","exactSource":"HP:0001992","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001992","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ORGANIC_ACIDURIA","geneSymbols":["ABCD4","ACAD8","ACAD9","ACADM","ACADS","ACADSB","ACADVL","ACSF3","AGXT","ALAD","ALDH5A1","ALDH6A1","BTD","CA5A","CD320","COX16","CPOX","CPT1A","CPT2","D2HGDH","DHTKD1","ETFA","ETFB","ETFDH","ETHE1","FH","FLAD1","FOCAD","FTCD","GATA1","GATM","GCDH","GRHPR","HADH","HCFC1","HGD","HLCS","HMBS","HMGCL","HOGA1","HPD","HSPD1","IDH1","IDH2","KIF1B","L2HGDH","LETM1","LMBRD1","MCCC1","MCCC2","MCEE","MLYCD","MMAA","MMAB","MMACHC","MMADHC","MMUT","MPC1","MTR","MTRR","MVK","NADK2","NDUFB10","NDUFS4","NFU1","OXCT1","OXGR1","PAH","PCCA","PCCB","PEX1","PEX14","PGM2L1","POLG","POLRMT","PPOX","PRDX1","RET","SCO1","SFXN4","SLC13A3","SLC18A2","SLC22A5","SLC25A1","SLC25A19","SLC25A20","SLC25A4","SLC26A1","SLC52A1","SLC52A2","SUCLA2","SUCLG1","SUGCT","TAT","TCN2","TFAM","TRMU","UROC1","UROS"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_KETOACIDOSIS":{"collection":"C5:HPO","systematicName":"M35571","pmid":"","exactSource":"HP:0001993","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001993","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_KETOACIDOSIS","geneSymbols":["ABCC8","ACAT1","ACSF3","APPL1","ATP5F1D","BLK","BTD","CA5A","CEL","CIDEC","CLCNKB","CYC1","DLD","EIF2AK3","GCK","GK","HNF1A","HNF4A","HYMAI","IL6","INS","INSR","ITPR3","IVD","KCNJ11","KLF11","MCCC2","MMUT","MRPL3","NEUROD1","OXCT1","PAX4","PDX1","PLAGL1","PTPN22","SHOX","SLC12A3","SLC16A1","SUGCT","ZFP57"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RENAL_FANCONI_SYNDROME":{"collection":"C5:HPO","systematicName":"M41250","pmid":"","exactSource":"HP:0001994","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001994","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RENAL_FANCONI_SYNDROME","geneSymbols":["BCS1L","CLCNKB","COA8","CTNS","FAH","HNF1B","HNF4A","MT-TN","MT-TS1","OCRL","PIGA","POLRMT","RRM2B","SLC12A3","SURF1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPERCHLOREMIC_ACIDOSIS":{"collection":"C5:HPO","systematicName":"M35572","pmid":"","exactSource":"HP:0001995","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001995","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERCHLOREMIC_ACIDOSIS","geneSymbols":["CTNS","CUL3","EHHADH","GALT","GATM","KLHL3","NDUFAF6","NEUROG3","SLC34A1","SLC4A1","SLC4A4","WNK1","WNK4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_GOUT":{"collection":"C5:HPO","systematicName":"M35573","pmid":"","exactSource":"HP:0001997","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001997","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GOUT","geneSymbols":["ANK1","APOE","CLCNKB","DNAJB11","EPB42","G6PC1","HNF1B","HPRT1","LRP6","MUC1","PFKM","PRPS1","SEC61A1","SLC12A3","SLC37A4","SLC4A1","SPTA1","SPTB","UMOD"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NEONATAL_HYPOGLYCEMIA":{"collection":"C5:HPO","systematicName":"M35574","pmid":"","exactSource":"HP:0001998","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001998","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEONATAL_HYPOGLYCEMIA","geneSymbols":["ABCC8","AKT2","APC2","APPL1","BLK","CDKN1C","CEL","CIC","CLPB","COX10","CYP11A1","DBH","DNAJC19","EBP","FBP1","GCK","GFM2","GYS2","H19","HADH","HERC1","HNF1A","HNF4A","HSD3B2","HTRA2","IGF2","INS","KCNJ11","KCNQ1","KCNQ1OT1","KDM6A","KLF11","MADD","MSL3","MTOR","NEUROD1","NSD1","OTX2","PAX4","PDX1","PET100","PRKAG2","PROP1","SETD2","SLC25A20","TBX19","WARS2","YARS1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_FACIAL_SHAPE":{"collection":"C5:HPO","systematicName":"M35575","pmid":"","exactSource":"HP:0001999","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0001999","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FACIAL_SHAPE","geneSymbols":["AARS1","AASS","ABCA5","ABCC9","ACADS","ACE","ACER3","ACTA1","ACTB","ACTG1","ACTG2","ADAMTS3","ADAMTSL1","ADAMTSL2","ADARB1","ADAT3","ADGRG1","ADGRG6","ADNP","ADSL","AEBP1","AFF4","AGA","AGO1","AGPAT2","AGRN","AGT","AGTR1","AHCY","AHDC1","AHI1","AIFM1","AIMP1","AIP","AKT1","AKT2","ALDH18A1","ALG1","ALG11","ALG12","ALG13","ALG14","ALG2","ALG6","ALG8","ALG9","ALKBH8","ALMS1","AMER1","AMMECR1","ANGPT2","ANKRD11","ANKRD17","ANOS1","ANTXR2","AP1S2","AP2M1","AP3B1","AP4B1","AP4E1","AP4M1","AP4S1","APC","APC2","ARID1A","ARID1B","ARID2","ARL13B","ARL3","ARMC5","ARMC9","ARSB","ARSK","ARVCF","ARX","ASAH1","ASPH","ASXL1","ASXL2","ATAD3A","ATG7","ATP10A","ATP6V0A2","ATP6V1A","ATP6V1B2","ATP6V1E1","ATP7A","ATR","ATRIP","ATRX","AUTS2","AXIN2","B3GALT6","B3GAT3","B3GLCT","B4GALT1","B4GALT7","B9D1","B9D2","BAP1","BAZ1B","BCAP31","BCAS3","BCL7B","BCOR","BCORL1","BCR","BIN1","BLM","BMP1","BMP4","BMPR1A","BPNT2","BPTF","BRAF","BRAT1","BRCA1","BRCA2","BRCC3","BRF1","BRIP1","BRPF1","BRWD3","BSCL2","BSND","BUB1","BUB1B","BUB3","BUD23","C12orf4","C12orf57","C2CD3","CA2","CACNA1C","CACNA2D2","CAMK2G","CAMTA1","CANT1","CARS1","CASK","CAV1","CAVIN1","CBL","CBY1","CC2D2A","CCBE1","CCDC115","CCDC174","CCDC47","CCDC8","CD28","CDC42","CDC42BPB","CDC6","CDCA7","CDH1","CDH11","CDH23","CDK10","CDK13","CDK8","CDKN1C","CENPE","CENPJ","CENPT","CEP104","CEP120","CEP152","CEP290","CEP41","CEP55","CEP57","CEP85L","CFL2","CHAMP1","CHAT","CHD2","CHD4","CHD7","CHN1","CHRNA1","CHRNA7","CHRNB1","CHRND","CHRNE","CHRNG","CHST14","CHST3","CHSY1","CIITA","CLCF1","CLCN3","CLCN4","CLCNKA","CLCNKB","CLIC2","CLIP2","CLTCL1","CNOT1","CNP","CNTN1","CNTNAP2","COG1","COG2","COG4","COG7","COL11A1","COL11A2","COL13A1","COL18A1","COL1A1","COL1A2","COL25A1","COL2A1","COL3A1","COL6A1","COL6A2","COL6A3","COL9A1","COL9A2","COL9A3","COLQ","COMT","COQ4","COX7B","CPE","CPLANE1","CPLX1","CPSF3","CREBBP","CRKL","CRLF1","CRTAP","CSGALNACT1","CSPP1","CTBP1","CTCF","CTDP1","CTLA4","CTNNB1","CTNND1","CTNND2","CTSA","CUL4B","CUL7","CUX1","CWC27","DACT1","DCAF17","DCHS1","DCPS","DDR2","DDX11","DDX3X","DDX59","DEAF1","DENND5A","DHX30","DHX37","DIS3L2","DLK1","DLL1","DNA2","DNAJC19","DNAJC30","DNM1","DNMT3A","DNMT3B","DOCK3","DPF2","DPH1","DPH2","DPM2","DSTYK","DVL1","DYM","DYRK1A","EBF3","EBP","ECEL1","EDA","EDARADD","EDN1","EDNRA","EED","EFEMP2","EFNB1","EHMT1","EIF2S3","EIF4H","ELMO2","ELN","ELOVL4","EMC1","EMC10","EP300","EPG5","ERCC1","ERCC2","ERCC3","ERCC4","ERCC6","ERCC8","ERF","ERMARD","ETFA","ETFB","ETFDH","EXOC2","EXOC8","EXOSC9","EXT2","EXTL3","EYA1","EZH2","FAM149B1","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FAR1","FARSA","FAT4","FBLN5","FBN1","FBXL4","FBXO11","FBXO31","FGD1","FGF10","FGF20","FGF3","FGF9","FGFR1","FGFR2","FGFR3","FGFRL1","FHL1","FIBP","FIG4","FKBP10","FKBP6","FLCN","FLI1","FLII","FLNA","FLNB","FLT4","FMR1","FN1","FOCAD","FOS","FOXE1","FRA10AC1","FRAS1","FTO","FUCA1","G6PC1","GAD1","GALNS","GALNT2","GATA1","GBA1","GDF3","GDF5","GDF6","GFPT1","GFRA1","GHR","GINS1","GIPC3","GJA1","GJA5","GJA8","GJB2","GJB6","GJC2","GLA","GLB1","GMPPA","GNAI3","GNAS","GNE","GNPTAB","GNPTG","GNS","GP1BB","GPC3","GPC4","GPC6","GPR101","GRB10","GRHL3","GRIN1","GRIN2A","GTF2E2","GTF2H5","GTF2I","GTF2IRD1","GTF2IRD2","GUSB","H19","H4C5","HACD1","HCCS","HDAC4","HDAC8","HECTD4","HELLS","HEPHL1","HERC1","HESX1","HEXB","HGSNAT","HIBCH","HIRA","HMGA2","HNRNPH1","HNRNPK","HOXD13","HPGD","HPSE2","HRAS","HS2ST1","HS6ST2","HSD17B10","HSPG2","HUWE1","HYLS1","HYOU1","IARS1","IDS","IDUA","IFITM5","IFT57","IFT74","IGF1","IGF1R","IGF2","INPP5E","INSR","IQSEC2","IRF6","ITCH","ITGA3","ITGA7","ITGA8","JAG1","JAK3","JARID2","JMJD1C","KANSL1","KAT5","KAT6A","KAT6B","KATNB1","KATNIP","KBTBD13","KCNA1","KCNC3","KCNH1","KCNJ1","KCNJ2","KCNJ5","KCNJ8","KCNK9","KCNN3","KCNQ1","KCNQ1OT1","KDM4B","KDM5B","KDM6B","KIAA0586","KIAA0753","KIF15","KIF22","KIF4A","KIF7","KLF13","KLHL15","KLHL41","KMT2A","KMT2B","KMT2C","KMT2D","KMT2E","KNSTRN","KRAS","L1CAM","LAMB2","LAMTOR2","LARP7","LAS1L","LEMD2","LEMD3","LETM1","LHX3","LHX4","LIFR","LIG4","LIMK1","LMBRD1","LMNA","LMOD3","LMX1B","LONP1","LRP4","LRP6","LRPPRC","LTBP1","LTBP3","LYSET","LZTR1","MACF1","MAD2L2","MAF","MAFB","MAGEL2","MAN1B1","MAN2B1","MAN2C1","MANBA","MAP2K1","MAP2K2","MAP3K20","MAP3K7","MAPK1","MAPK8IP3","MAPRE2","MATN3","MBD5","MCOLN1","MCTP2","MED12","MED12L","MED13L","MEG3","MEIS2","MEN1","MEOX1","METTL27","MGAT2","MGP","MICU1","MID1","MID2","MIR17HG","MKS1","MLXIPL","MMACHC","MMP14","MMP2","MN1","MOCS1","MOCS2","MOGS","MORC2","MPDZ","MPL","MPLKIP","MRAS","MRPL12","MRPS28","MRPS34","MSTO1","MSX1","MTM1","MTOR","MTRFR","MTX2","MVK","MYCN","MYH3","MYH8","MYL2","MYO9A","MYOD1","MYPN","MYSM1","NAA10","NAGA","NAGLU","NALCN","NANS","NBAS","NCF1","NDE1","NDN","NDUFB11","NEB","NECTIN1","NEDD4L","NEU1","NEXMIF","NF1","NFIA","NFIB","NFIX","NGLY1","NHEJ1","NHS","NIPA1","NIPA2","NKAP","NKX2-1","NKX2-5","NKX2-6","NMNAT1","NOG","NONO","NOTCH2","NOTCH3","NPHP1","NPHP3","NR2F1","NR3C1","NRAS","NRCAM","NSD1","NSD2","NSDHL","NSUN2","NTRK2","NUP107","NUP85","OBSL1","OCA2","OCRL","OFD1","OPHN1","ORC6","OSTM1","OTUD5","OTUD6B","P3H1","P4HTM","PACS1","PACS2","PAH","PAICS","PAK1","PAK3","PALB2","PAM16","PAPPA2","PAX1","PAX2","PAX3","PAX7","PAX8","PAX9","PBX1","PCDHGC4","PCGF2","PCNT","PCYT1A","PDE11A","PDE4D","PDE6D","PDHA1","PDHB","PEPD","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PEX7","PGAP2","PGAP3","PGM3","PHF21A","PHF6","PHF8","PHGDH","PHIP","PIBF1","PIEZO1","PIEZO2","PIGA","PIGB","PIGF","PIGG","PIGK","PIGL","PIGN","PIGO","PIGQ","PIGS","PIGU","PIGV","PIGW","PIGY","PIK3C2A","PIK3CA","PIK3CD","PIK3R1","PITX2","PKD2","PKHD1","PLAA","PLAG1","PLCB4","PLK4","PLOD2","PLOD3","PLXND1","PMM2","POC1A","POGZ","POLA1","POLD1","POLR1B","POLR1C","POLR1D","POLR3A","POR","PORCN","POU1F1","POU4F1","PPARG","PPP1R12A","PPP1R15B","PPP1R21","PPP2R1A","PPP2R3C","PPP2R5D","PPP3CA","PQBP1","PRDX1","PRKACA","PRKACB","PRKAR1A","PRKAR1B","PRKG2","PRMT7","PROP1","PRPS1","PSMD12","PSPH","PTCH1","PTEN","PTF1A","PTPN11","PTRH2","PUF60","PUM1","PURA","PUS3","PUS7","PYCR1","PYCR2","PYROXD1","RAB33B","RAB39B","RAB5IF","RAC1","RAD21","RAD50","RAD51","RAD51C","RAF1","RAI1","RAPSN","RASA2","RBBP8","RBL2","RBMX","RDH11","RECQL","RECQL4","RELN","REN","RERE","RFC2","RFWD3","RFX5","RFX7","RFXANK","RFXAP","RHOA","RIC1","RIN2","RIT1","RLIM","RMRP","RNASET2","RNF113A","RNF13","RNF135","RNF168","RNU4ATAC","ROR2","RPGRIP1L","RPL10","RPS17","RPS29","RPS6KA3","RRAS","RRAS2","RREB1","RTL1","RTTN","RUNX2","RUSC2","RYR1","RYR3","SALL1","SALL4","SATB2","SCN1A","SCN3A","SCN4A","SCUBE3","SEC24C","SEC24D","SEC31A","SELENON","SEMA3E","SEMA5A","SEPSECS","SEPTIN9","SERPINH1","SET","SETBP1","SETD1B","SETD2","SF3B2","SGCG","SGSH","SH2B1","SH3BP2","SH3PXD2B","SIM1","SIN3A","SIN3B","SIX1","SIX5","SKIC2","SKIC3","SLC10A7","SLC12A6","SLC16A2","SLC17A5","SLC18A3","SLC1A4","SLC25A1","SLC25A12","SLC25A24","SLC26A2","SLC26A4","SLC2A1","SLC2A10","SLC2A2","SLC35A2","SLC35B2","SLC35C1","SLC37A4","SLC39A8","SLC45A1","SLC5A7","SLC6A1","SLC6A8","SLC9A6","SLC9A7","SLCO2A1","SLF2","SLX4","SMAD2","SMAD3","SMARCA2","SMARCA4","SMARCAL1","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SMC1A","SMC3","SMC5","SMO","SMS","SNAP25","SNAP29","SNRPN","SNX14","SON","SOS1","SOS2","SOST","SOX11","SOX18","SOX4","SOX5","SOX6","SOX9","SP7","SPECC1L","SPEG","SPEN","SPOP","SPRED1","SPRED2","SPRTN","SPTBN1","SRCAP","SRD5A3","SSR4","STAG1","STAG2","STAT3","STEEP1","STRADA","STT3A","STUB1","STX16","STX1A","STXBP1","SUFU","SUMF1","SUMO1","SUZ12","SVBP","SYNE1","SYNGAP1","SYT2","TAB2","TAF1","TAFAZZIN","TALDO1","TAOK1","TAPT1","TARS1","TBC1D24","TBC1D2B","TBC1D7","TBCK","TBL1XR1","TBL2","TBR1","TBX1","TBX2","TBX22","TCF20","TCF4","TCOF1","TCTN1","TCTN2","TCTN3","TDP2","TECPR2","TELO2","TET3","TFE3","TGFA","TGFB1","TGFB3","THOC6","THPO","THSD1","TLK2","TMCO1","TMEM138","TMEM147","TMEM216","TMEM218","TMEM231","TMEM237","TMEM260","TMEM270","TMEM53","TMEM67","TMEM70","TMEM94","TNFRSF1B","TNNI2","TNNT1","TNNT3","TNPO2","TNRC6B","TOGARAM1","TONSL","TOPORS","TOR1A","TP53","TP53RK","TP63","TPM2","TPM3","TPRKB","TRAIP","TRAPPC9","TRIM37","TRIO","TRIP11","TRIP13","TRMT10A","TRMT5","TRPM3","TRPS1","TRRAP","TSEN15","TSEN2","TSEN34","TSEN54","TSHR","TSPAN7","TSPEAR","TTC26","TTC5","TTI2","TTN","TUBB","TUBB4A","TUBG1","TUBGCP4","TWIST1","UBA1","UBB","UBE2A","UBE2T","UBE3A","UBE3B","UFD1","UNC80","UPF3B","USP48","USP7","USP8","USP9X","VAMP1","VPS11","VPS33A","VPS37D","WAC","WARS2","WDR26","WDR81","WNT10A","WNT10B","WNT5A","WNT7A","WRN","XRCC2","XRCC4","XYLT1","YY1","ZBTB18","ZBTB24","ZDHHC9","ZEB2","ZFHX4","ZIC1","ZIC2","ZMPSTE24","ZMYM2","ZNF148","ZNF423","ZNF699","ZNF711","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SHORT_COLUMELLA":{"collection":"C5:HPO","systematicName":"M35576","pmid":"","exactSource":"HP:0002000","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002000","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_COLUMELLA","geneSymbols":["ACTB","ACTG1","ALX3","ARSL","ASXL3","B3GLCT","CENPF","CHST14","CREBBP","CTCF","DNMT3A","EP300","ERF","KCNH1","KCTD1","KDM6A","KMT2A","KMT2D","LMBR1","MAN2C1","MBD5","NAA10","NALCN","SCNM1","SHH","THUMPD1","TWIST1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DEEP_PHILTRUM":{"collection":"C5:HPO","systematicName":"M35577","pmid":"","exactSource":"HP:0002002","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002002","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEEP_PHILTRUM","geneSymbols":["ARID2","ARNT2","ATP6V1B2","AUTS2","BRAF","CBL","CDKL5","CHSY1","CREBBP","DLK1","DNMT3A","DPM2","DPYD","EBF3","EED","EFTUD2","EP300","EXT1","EZH2","FBN1","GNB2","H3-3A","H4C5","H4C9","HRAS","HS2ST1","HSPG2","IL6ST","INTS1","JARID2","KCNK4","KIF11","MAP3K7","MED12","MEG3","MGP","MYH8","NAA10","NAA20","NBN","NOVA2","NRAS","NRCAM","NSD1","OCRL","OFD1","PAM16","PBX1","PIGS","PIGT","PPP1CB","PRKACB","PURA","RAD21","RTL1","RYR1","SETD5","SHOC2","SLC35C1","SMOC1","SMPD4","SNX14","SUZ12","TALDO1","TCF4","TFAP2A","TOE1","TRPS1","UBE2A","ZIC2","ZNF148"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LARGE_FOREHEAD":{"collection":"C5:HPO","systematicName":"M35578","pmid":"","exactSource":"HP:0002003","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002003","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LARGE_FOREHEAD","geneSymbols":["AMMECR1","ARID2","BMPR1A","CAMTA1","COL25A1","FLNA","FMR1","GNB2","HS6ST2","LEMD2","LMX1B","MEIS2","ODC1","PDE4D","POU4F1","PTEN","RNF125","SPOP","SRC","STRADA","STXBP1","SUMF1","TAOK1","TMLHE","TOE1","UNC45A","VPS33A","ZFHX4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FACIAL_CLEFT":{"collection":"C5:HPO","systematicName":"M35579","pmid":"","exactSource":"HP:0002006","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002006","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FACIAL_CLEFT","geneSymbols":["ALX1","ALX4","COLEC10","DYNC2H1","DYNC2I1","DYNC2I2","EVC","EVC2","FRAS1","IFT80","POLR1B","POLR1C","POLR1D","RIPK4","SF3B2","SPECC1L","TCOF1","WDR35","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_ABDOMINAL_ORGANS":{"collection":"C5:HPO","systematicName":"M47056","pmid":"","exactSource":"HP:0002012","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002012","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_ABDOMINAL_ORGANS","geneSymbols":["AAGAB","ABCA1","ABCA12","ABCB11","ABCB4","ABCC2","ABCC6","ABCC8","ABCD1","ABCD3","ABCG5","ABCG8","ABHD5","ABL1","ACAD9","ACADM","ACADS","ACADVL","ACAT1","ACD","ACOX1","ACP5","ACSL5","ACTG2","ACTN4","ACVR1B","ACVR2B","ACVRL1","ADA","ADA2","ADAMTS13","ADAMTS3","ADAMTSL2","ADAR","ADK","AFF4","AGA","AGGF1","AGL","AGPAT2","AGR2","AHCY","AIRE","AKR1D1","AKT1","AKT2","ALAS2","ALDH1A2","ALDOA","ALDOB","ALG1","ALG13","ALG2","ALG5","ALG6","ALG8","ALG9","ALMS1","ALPK1","AMACR","ANK1","ANKFY1","ANKRD55","ANKS6","ANLN","ANTXR1","AP1B1","AP1S1","AP2S1","AP3B1","AP3D1","APC","APC2","APOA1","APOB","APOC2","APOE","APOL1","APPL1","ARG1","ARHGAP24","ARHGAP31","ARHGDIA","ARID1A","ARID1B","ARID2","ARL13B","ARL6","ARMC5","ARSA","ARSB","ARVCF","ARX","ASAH1","ASL","ASS1","ASXL1","ATAD3A","ATM","ATP11C","ATP5F1A","ATP5F1D","ATP5F1E","ATP5MK","ATP6AP1","ATP6AP2","ATP6V1B2","ATP7A","ATP7B","ATP8B1","ATPAF1","ATPAF2","ATRX","AUH","AXIN1","B2M","B3GLCT","B4GALT1","B9D1","B9D2","BAAT","BACH2","BAP1","BARD1","BAZ1B","BBIP1","BBS1","BBS10","BBS12","BBS2","BBS4","BBS5","BBS7","BBS9","BCAP31","BCHE","BCKDHA","BCKDHB","BCL11A","BCL2","BCL6","BCL7B","BCR","BCS1L","BICC1","BLK","BLM","BLNK","BLVRA","BMP2","BMP6","BMPER","BMPR1A","BOLA3","BPGM","BRAF","BRCA1","BRCA2","BRD4","BRIP1","BSCL2","BTD","BTK","BTNL2","BUD23","C1QBP","C1S","C2orf69","C4A","C4B","CA2","CA5A","CALR","CARD11","CARS2","CASK","CASP10","CASP8","CASR","CASZ1","CAV1","CAVIN1","CBL","CBS","CC2D2A","CCBE1","CCDC103","CCDC115","CCDC28B","CCDC32","CCDC39","CCDC40","CCDC47","CCDC65","CCND1","CCNO","CCR1","CD19","CD247","CD27","CD28","CD2AP","CD3D","CD3E","CD40LG","CD55","CD70","CD79A","CD79B","CD81","CD96","CDAN1","CDC45","CDC73","CDIN1","CDK4","CDKN1A","CDKN1B","CDKN1C","CDKN2A","CDKN2B","CDKN2C","CDON","CEACAM3","CEACAM6","CEL","CENPF","CEP120","CEP164","CEP19","CEP290","CEP83","CFAP221","CFAP298","CFAP300","CFAP410","CFAP418","CFAP45","CFAP52","CFAP53","CFAP74","CFB","CFC1","CFTR","CHD7","CHEK2","CHST14","CIDEC","CIITA","CIROP","CISD2","CLCA4","CLCN7","CLCNKB","CLDN1","CLEC7A","CLIP2","CLPB","CNOT1","CNTNAP2","COA8","COG1","COG4","COG5","COG6","COG7","COG8","COL14A1","COL4A3","COMT","COQ8B","CORIN","COX10","COX14","COX15","COX4I2","COX5A","CP","CPA1","CPLX1","CPOX","CPT1A","CPT2","CR2","CRB2","CREBBP","CSF3R","CSPP1","CTBP1","CTC1","CTCF","CTLA4","CTNNB1","CTNS","CTRC","CTSA","CTSC","CTSK","CYBA","CYBB","CYBC1","CYP19A1","CYP27A1","CYP7A1","CYP7B1","DAAM2","DAXX","DBT","DCDC2","DCLRE1C","DCTN4","DDOST","DDRGK1","DEF6","DGUOK","DHCR24","DHCR7","DHDDS","DHFR","DIS3L2","DKC1","DLD","DLK1","DLL4","DMPK","DNAAF1","DNAAF11","DNAAF2","DNAAF3","DNAAF4","DNAAF5","DNAAF6","DNAH1","DNAH11","DNAH5","DNAH9","DNAI1","DNAI2","DNAJB11","DNAJB13","DNAJC19","DNAJC21","DNAJC30","DNAL1","DNASE1L3","DNASE2","DOCK2","DOCK6","DPAGT1","DPF2","DPM1","DPM2","DRC1","DSE","DUOX2","DUOXA2","DYNC2H1","DYNC2I1","DYNC2I2","DYNC2LI1","DZIP1L","EARS2","EDNRA","EFL1","EIF2AK3","EIF4H","ELANE","ELN","ELP1","EMP2","ENG","ENPP1","EOGT","EP300","EPB41","EPB42","EPCAM","EPOR","ERAP1","ERBB3","ERCC1","ERCC4","ERCC6","ERCC8","ESCO2","ETFA","ETFB","ETFDH","EWSR1","EXOC2","EXTL3","F10","F5","FADD","FAH","FAM111A","FAM111B","FAN1","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FARS2","FARSA","FARSB","FAS","FASLG","FAT4","FBN1","FBP1","FCGR2A","FCGR3B","FCHO1","FDX2","FECH","FERMT3","FGA","FGB","FGFR2","FGFRL1","FGG","FH","FKBP6","FLI1","FLNB","FLNC","FLT1","FMO3","FOCAD","FOS","FOXF1","FOXJ1","FOXP3","FOXRED1","FTH1","FTL","FUCA1","G6PC1","G6PC3","G6PD","GAA","GABRD","GALE","GALK1","GALM","GALNS","GALT","GANAB","GAPVD1","GAS2L2","GAS8","GATA1","GATA2","GATA6","GBA1","GBE1","GCDH","GCGR","GCK","GCLC","GDF1","GDF2","GEMIN4","GFM1","GH1","GIMAP5","GK","GLB1","GLIS3","GLRX5","GLUD1","GNA11","GNAS","GNB2","GNE","GNMT","GNPTAB","GNS","GP1BA","GP1BB","GPC3","GPC4","GPD1","GPI","GPIHBP1","GPR35","GSN","GSTM3","GTF2I","GTF2IRD1","GTF2IRD2","GUCY2D","GUSB","GYPC","H19","HADH","HADHA","HADHB","HAMP","HAVCR2","HBA1","HBA2","HBB","HBG1","HBG2","HCK","HEPACAM","HESX1","HEXB","HFE","HGSNAT","HIRA","HJV","HK1","HLA-B","HLA-DPA1","HLA-DPB1","HLA-DRB1","HMBS","HMGA2","HMGCL","HMGCS2","HMOX1","HNF1A","HNF1B","HNF4A","HNRNPA1","HNRNPA2B1","HOXD13","HPGD","HSD17B10","HSD17B4","HSD3B7","HSPG2","HTRA2","HYDIN","HYLS1","HYMAI","HYOU1","IARS1","ICOS","IDS","IDUA","IER3IP1","IFIH1","IFNG","IFNGR1","IFT122","IFT140","IFT172","IFT27","IFT43","IFT74","IFT80","IGF2","IGF2R","IGHG2","IGHM","IGKC","IGLL1","IKBKG","IKZF1","IKZF3","IL10","IL12A","IL12A-AS1","IL12RB1","IL17F","IL17RA","IL17RC","IL18BP","IL1RN","IL21R","IL23R","IL2RA","IL2RB","IL2RG","IL36RN","IL6","IL6ST","IL7R","INF2","INPP5E","INPPL1","INS","INSR","INTU","INVS","IQCB1","IRAK4","IRF2BP2","IRF4","IRF5","IRF8","ITCH","ITK","IYD","JAG1","JAK1","JAK2","JAK3","JAM2","JAM3","JMJD1C","KATNB1","KCNAB2","KCNH1","KCNJ11","KCNMA1","KCNN3","KCNN4","KCNQ1","KCNQ1OT1","KDM5C","KIAA0753","KIF12","KIF20A","KIF23","KIF3B","KIT","KLF1","KLF11","KLRC4","KMT2B","KMT2D","KMT2E","KPTN","KRAS","KRIT1","KRT18","KYNU","LACC1","LAMA5","LARS1","LAT","LBR","LCAT","LDLR","LDLRAP1","LEMD3","LETM1","LHX1","LHX3","LHX4","LIG3","LIG4","LIMK1","LIPA","LIPE","LMBRD1","LMF1","LMNA","LMNB2","LONP1","LPIN2","LPL","LRBA","LRP5","LRPPRC","LRRC56","LRRC8A","LSM11","LTBP3","LTBP4","LUZP1","LYRM4","LYST","LYZ","LZTFL1","LZTR1","MAD2L2","MADD","MAFA","MAGI2","MAGT1","MAN2B1","MAPK8IP3","MARS1","MC1R","MCCC1","MCIDAS","MCM10","MCM4","MDM2","MECOM","MECP2","MED12","MED25","MEFV","MEG3","MEGF8","MEN1","MET","METTL27","MFN2","MGMT","MICOS13","MICU1","MIF","MITF","MKKS","MKS1","MLH1","MLH3","MLXIPL","MMAA","MMAB","MMACHC","MMEL1","MMP21","MMP23B","MMUT","MNS1","MOGS","MPC1","MPI","MPIG6B","MPL","MPV17","MRAS","MRE11","MRPL3","MRPL44","MRPS28","MRPS7","MS4A1","MSH2","MSH6","MST1","MT-ATP6","MT-ATP8","MT-CO1","MT-CO2","MT-CO3","MT-CYB","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND5","MT-ND6","MT-TE","MT-TF","MT-TH","MT-TK","MT-TL1","MT-TN","MT-TQ","MT-TS1","MT-TS2","MT-TV","MT-TW","MTRR","MTTP","MTX2","MUC5B","MVK","MYBPC3","MYC","MYCN","MYD88","MYH11","MYL2","MYO1E","MYO5B","MYORG","MYPN","MYRF","NAA10","NAB2","NADK2","NAE1","NAF1","NAGA","NAGLU","NAGS","NBAS","NBEAL2","NBN","NCF1","NCF2","NCF4","NCKAP1L","NDE1","NDUFA1","NDUFA11","NDUFA2","NDUFA6","NDUFAF1","NDUFAF2","NDUFAF3","NDUFAF4","NDUFAF5","NDUFAF8","NDUFB10","NDUFB11","NDUFB3","NDUFB9","NDUFS1","NDUFS2","NDUFS3","NDUFS4","NDUFS6","NDUFS7","NDUFS8","NDUFV1","NDUFV2","NEK1","NEK10","NEK8","NELFA","NEU1","NEUROD1","NEUROG3","NFKB1","NFKB2","NFKBIA","NFS1","NGLY1","NHLRC2","NHP2","NKX2-5","NLRC4","NLRP1","NLRP12","NLRP3","NME5","NME8","NOD2","NODAL","NOP10","NOTCH1","NOTCH2","NOTCH3","NPC1","NPC2","NPHP1","NPHP3","NPHP4","NPHS1","NPHS2","NPM1","NR1H4","NRAS","NSD1","NSD2","NSMCE2","NTHL1","NUBPL","NUP107","NUP133","NUP160","NUP205","NUP37","NUP85","NUP93","NUTM1","OAS1","OCLN","ODAD1","ODAD2","ODAD3","ODAD4","OFD1","ORAI1","OSTM1","OTC","OTUD5","PALB2","PALLD","PARN","PARS2","PAX2","PAX4","PAX8","PC","PCCA","PCCB","PCK1","PCK2","PCSK1","PCSK9","PDE11A","PDGFB","PDGFRA","PDGFRB","PDGFRL","PDPN","PDX1","PEPD","PERCC1","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PEX7","PFKM","PGM1","PHKA2","PHKB","PHKG2","PHYH","PI4KA","PIBF1","PIEZO1","PIGA","PIGG","PIGL","PIGM","PIGS","PIK3C2A","PIK3CA","PIK3CD","PIK3CG","PIK3R1","PKD1","PKD1L1","PKD2","PKHD1","PKLR","PLAGL1","PLCE1","PLEC","PLEKHM1","PLIN1","PMM2","PMS1","PMS2","PNP","PNPLA2","PNPLA6","POLD1","POLG","POLG2","POLR3A","POMC","POT1","POU1F1","POU2AF1","POU6F2","PPARG","PPOX","PPP1R21","PPP2R3C","PRDM16","PRF1","PRIM1","PRKAR1A","PRKCD","PRKCSH","PRKCZ","PROP1","PRPS1","PRSS1","PRSS2","PRTN3","PSAP","PSMB10","PSMB4","PSMB8","PSMB9","PSMG2","PSTPIP1","PTEN","PTF1A","PTPN11","PTPN2","PTPN22","PTPN3","PTPRC","PTPRO","PTRH2","PUF60","PUS7","PYGL","RAB23","RAB27A","RABL3","RAC2","RAD50","RAD51","RAD51C","RAD51D","RAF1","RAG1","RAG2","RARB","RASA2","RASGRP1","RBCK1","RBM8A","RBPJ","RECQL4","REL","RELA","RELN","RERE","REST","RFC2","RFT1","RFWD3","RFX5","RFX6","RFXANK","RFXAP","RHAG","RHBDF2","RHCE","RHD","RINT1","RIPK1","RIT1","RMND1","RMRP","RNASEH2A","RNASEH2B","RNASEH2C","RNF43","RNU4ATAC","RNU7-1","RORC","RPGR","RPGRIP1","RPGRIP1L","RPS20","RPSA","RRAS","RRAS2","RREB1","RRM2B","RSPH1","RSPH3","RSPH4A","RSPH9","RTEL1","RTL1","RUNX1","SAA1","SAMD9","SAMD9L","SAMHD1","SAR1B","SASH3","SBDS","SC5D","SCAPER","SCARB2","SCLT1","SCN4A","SCNN1A","SCNN1B","SCNN1G","SCO1","SCO2","SCYL1","SDCCAG8","SDHA","SDHB","SDHC","SDHD","SEC23B","SEC24C","SEC63","SEMA4A","SEMA4D","SEMA7A","SERPINA1","SERPINC1","SERPINE1","SETBP1","SETD2","SF3B1","SFTPA2","SFTPC","SGSH","SH2B3","SH2D1A","SHPK","SIK3","SKI","SKIC2","SKIC3","SLC10A1","SLC11A1","SLC11A2","SLC12A3","SLC16A1","SLC16A2","SLC17A5","SLC20A2","SLC22A5","SLC25A1","SLC25A13","SLC25A15","SLC25A19","SLC25A20","SLC25A4","SLC26A4","SLC26A9","SLC29A3","SLC2A1","SLC2A2","SLC30A10","SLC34A2","SLC35C1","SLC37A4","SLC38A3","SLC39A4","SLC39A7","SLC39A8","SLC40A1","SLC44A1","SLC4A1","SLC51A","SLC51B","SLC5A5","SLC6A14","SLC7A7","SLC9A3","SLCO1B1","SLCO1B3","SLCO2A1","SLX4","SMAD2","SMAD4","SMARCA4","SMARCAL1","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SMPD1","SNX10","SNX14","SOCS1","SON","SOS1","SOS2","SOX10","SOX11","SOX4","SP110","SPAG1","SPEF2","SPEN","SPI1","SPIB","SPINK1","SPOP","SPRED2","SPRTN","SPTA1","SPTB","SPTBN1","SRP54","SRSF2","STAT1","STAT3","STAT4","STAT6","STEAP3","STIM1","STK11","STK36","STN1","STOX1","STRA6","STUB1","STX11","STX1A","STXBP2","SUCLG1","SUMF1","SUPT16H","SURF1","SYK","TALDO1","TARS2","TBC1D8B","TBL2","TBX1","TBX19","TBXAS1","TCF3","TCF4","TCIRG1","TCN2","TCTN1","TCTN2","TCTN3","TELO2","TERC","TERF2IP","TERT","TET2","TF","TFAM","TFE3","TFR2","TG","TGFB1","TGFBR2","THPO","TIMMDC1","TINF2","TJP2","TKFC","TKT","TLR4","TLR8","TMEM107","TMEM126B","TMEM165","TMEM199","TMEM216","TMEM231","TMEM237","TMEM270","TMEM67","TMEM70","TMEM94","TMPRSS6","TNFRSF11A","TNFRSF13B","TNFRSF13C","TNFRSF1A","TNFRSF1B","TNFRSF4","TNFRSF9","TNFSF11","TNFSF12","TNFSF15","TNNI3","TNNT2","TNPO3","TOGARAM1","TOM1","TP53","TPI1","TPO","TPP2","TRAC","TRAF3IP1","TRAF3IP2","TRAPPC11","TREX1","TRHR","TRIM28","TRIM32","TRIM37","TRIP13","TRMT5","TRMU","TRNT1","TRPC6","TRPV6","TSC1","TSC2","TSFM","TSHB","TSHR","TTC12","TTC21B","TTC26","TTC7A","TTC8","TUFM","TULP3","TWIST1","TWNK","TXNDC15","TYMP","TYMS","UBAC2","UBE2T","UBE4B","UBR1","UCP2","UFD1","UGT1A1","UMPS","UNC13D","UNC45A","UQCRB","UQCRFS1","UQCRH","UROD","UROS","USB1","USP18","USP53","USP9X","VCP","VHL","VIPAS39","VPS11","VPS13A","VPS33A","VPS33B","VPS37D","VPS45","VPS4A","VPS50","WDPCP","WDR1","WDR19","WDR35","WFS1","WNT3","WNT7B","WRAP53","WT1","XIAP","XK","XPNPEP3","XPR1","XRCC2","XRCC4","XYLT1","YARS1","YARS2","YME1L1","YY1","ZAP70","ZEB2","ZFTA","ZFYVE19","ZIC3","ZMYND10","ZNF699","ZNFX1","ZPR1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_VOMITING":{"collection":"C5:HPO","systematicName":"M35582","pmid":"","exactSource":"HP:0002013","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002013","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VOMITING","geneSymbols":["AASS","ABCC6","ABCC8","ACAD8","ACADM","ACADVL","ACAT1","ACSF3","ACSL5","ACTG2","ACY1","ADNP","AGR2","AIMP1","AIP","ALAD","ALDH18A1","ALDOB","ALG11","ALG3","ALG8","ALG9","ALPL","ALX4","AMN","ANAPC1","ANO1","APC","AQP2","ARG1","ASL","ASPA","ASS1","ASXL1","ASXL3","ATP1A2","ATP1A3","ATP6V0A4","ATP7B","ATRX","AVP","AVPR2","BCKDHA","BCKDHB","BOLA3","BRAF","BSND","BTD","CA5A","CACNA1A","CARD8","CAV1","CCM2","CD46","CD55","CDC42BPB","CDH23","CDK13","CDK8","CDKN1A","CDKN1B","CDKN2B","CDKN2C","CDON","CFH","CFI","CLCNKA","CLCNKB","CLMP","COA8","COL1A1","COL25A1","COL4A5","COL4A6","COL5A1","COL5A2","COQ2","CPOX","CPS1","CPT2","CTNNB1","CTNS","CTRC","CUBN","CYC1","CYP11A1","CYP11B2","CYP24A1","D2HGDH","DBH","DBT","DGAT1","DGUOK","DHCR7","DISP1","DLD","DLL1","DOLK","DYRK1A","EDNRA","EGFR","ELN","ELP1","ENPP1","EPCAM","ERBB3","ESR1","ETFA","ETFB","ETFDH","F12","FAH","FARSB","FBLN5","FBP1","FGF13","FGF8","FGFR1","FLNA","FOCAD","FOXH1","FOXP3","FOXRED1","GALC","GALE","GALT","GAMT","GAN","GAS1","GFAP","GFM2","GHSR","GK","GLA","GLI2","GPD1","GRB10","HADH","HELLPAR","HIBCH","HIKESHI","HLA-DQA1","HLA-DQB1","HLCS","HMBS","HMGCL","HMGCS2","HNF4A","HNRNPK","HPRT1","HS3ST6","HSD3B2","IRAK1","ITGB4","IVD","KARS1","KCNJ1","KCNJ11","KIF21A","KIT","KMT2E","KRIT1","KYNU","LAMA3","LAMB3","LAMC2","LBX1","LIG3","LIPA","LPL","LRPPRC","MARS1","MC2R","MCCC1","MCCC2","MED12","MEFV","MEN1","MET","MLYCD","MMAA","MMAB","MMUT","MPI","MPV17","MRAP","MRPS7","MSX2","MT-ATP6","MT-CO1","MT-CO2","MT-CO3","MT-CYB","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND5","MT-ND6","MT-TC","MT-TF","MT-TH","MT-TK","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TV","MT-TW","MTHFD1","MTRR","MTTP","MVK","NAA10","NAGS","NARS2","NAXD","NBAS","NDUFA1","NDUFA11","NDUFA2","NDUFA6","NDUFAF1","NDUFAF2","NDUFAF3","NDUFAF4","NDUFAF5","NDUFAF8","NDUFB10","NDUFB11","NDUFB3","NDUFB8","NDUFB9","NDUFS1","NDUFS2","NDUFS3","NDUFS4","NDUFS6","NDUFS7","NDUFS8","NDUFV1","NDUFV2","NEUROG3","NEXMIF","NFIX","NLRC4","NNT","NODAL","NOTCH2NLC","NR3C2","NSD1","NUBPL","NUP214","OPLAH","OTC","OXCT1","PCCA","PCCB","PDCD10","PERCC1","PGM1","PHGDH","PHKA2","PHKB","PHKG2","PHOX2A","PIGY","PIK3CA","PKHD1","PLCH1","PLEC","PMM2","PNPT1","POLG","PPM1D","PPOX","PSAP","PTCH1","PYCR2","RANBP2","RARS1","RECQL4","RELA","RET","RRM2B","RYR1","SAA1","SAR1B","SAT1","SCN2A","SCNN1A","SCNN1B","SCNN1G","SERPING1","SHANK3","SHH","SI","SIX3","SLC12A1","SLC12A3","SLC19A3","SLC1A3","SLC22A12","SLC22A5","SLC25A13","SLC25A15","SLC2A9","SLC37A4","SLC5A1","SLC5A6","SLC6A8","SLC7A7","SMC1A","SMPD1","SPINK1","SPP1","SPTBN1","SSR4","ST3GAL5","STAG2","STAR","STAT4","STIL","STK11","STX3","SUCLG1","SUGCT","SUOX","SYK","SYT1","TCN2","TDGF1","TGIF1","TIMM22","TIMMDC1","TMEM126B","TNF","TNFRSF1A","TOM1","TP53","TREH","TRMU","TTR","TUBA1A","TUBB2B","TUBB3","TWNK","TXNRD2","TYMP","UFC1","UNC45A","UQCC2","UQCRC2","UQCRH","YARS1","ZEB2","ZFTA","ZIC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DIARRHEA":{"collection":"C5:HPO","systematicName":"M35583","pmid":"","exactSource":"HP:0002014","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002014","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DIARRHEA","geneSymbols":["ABCB11","ABCB4","ABCD1","ACADM","ACAT1","ACSF3","ACSL5","ACTG2","ACVRL1","ADA","ADAM17","ADNP","AGA","AGR2","AIRE","AK2","AKR1D1","ALAD","ALDH4A1","ALDOB","ALG1","ALG2","ALG3","ALG8","ALG9","AMACR","ANAPC1","ANO1","ANTXR2","AP1S1","APC","ARPC1B","ARX","ASAH1","ASXL1","ATM","ATP1A2","ATP1A3","ATP5F1A","ATP6AP1","ATP6V0A1","ATP7A","ATP8B1","ATRX","AVP","B4GALT1","BACH2","BLNK","BMPR1A","BRCA1","BRCA2","BTD","BTK","C4B","C5","CACNA1A","CAD","CARD11","CARD8","CARMIL2","CASP8","CAV1","CBL","CCDC47","CD109","CD19","CD247","CD3D","CD3E","CD3G","CD40LG","CD55","CD79A","CD79B","CDKN1A","CDKN1B","CDKN2A","CDKN2B","CDKN2C","CFH","CFHR1","CFHR3","CFTR","CHD7","CIITA","CLCNKB","CLMP","CLPB","COG4","COG6","COG7","COX15","CPOX","CPT1A","CPT2","CR2","CTLA4","CYP27A1","CYP7B1","DAXX","DBH","DCLRE1C","DDC","DEF6","DES","DGAT1","DMPK","DNAJC6","DNASE1L3","DNASE2","DNMT3B","DOCK2","DOLK","DPM1","ECE1","EDN3","EDNRB","EFL1","EGFR","ELANE","ELF4","ELP1","ENG","EPCAM","ERBB2","ERBB3","ERCC2","ERCC4","ERCC6","ERCC8","ETHE1","F5","FAH","FBP1","FCGR2A","FCHO1","FOCAD","FOXP3","G6PC1","GALT","GATA6","GDNF","GFI1","GINS1","GLA","GNS","GP1BA","GP1BB","GREM1","GUCY2C","HADH","HBB","HEATR3","HEXB","HGSNAT","HLA-B","HLA-DQA1","HLA-DQB1","HMBS","HMGCL","HMGCS2","HNF4A","HPS1","HS3ST6","HSD3B7","HTRA2","HYOU1","ICOS","IDS","IDUA","IFIH1","IFNG","IFNGR1","IGHM","IGKC","IGLL1","IKBKB","IKBKG","IKZF1","IL10RA","IL21","IL21R","IL2RA","IL2RB","IL2RG","IL37","IL6","IL6ST","IL7R","IPO8","IRAK1","IRF2BP2","IRF4","ITCH","ITGA2","ITGA2B","ITGB2","ITGB3","ITGB4","JAK3","KARS1","KCNJ1","KIF1B","KIF23","KIT","KMT5B","KNSTRN","KRAS","LCK","LCT","LIG3","LIG4","LIPA","LRBA","LRRC8A","LRRK2","MADD","MAOA","MC2R","MCM10","MCM6","MEFV","MEN1","MGME1","MLYCD","MPI","MPV17","MRAP","MT-CO1","MT-CO2","MT-CO3","MT-ND1","MT-ND4","MT-ND5","MT-ND6","MT-TF","MT-TH","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TW","MTTP","MVK","MYD88","MYO5B","NAA10","NAGLU","NAGS","NAXD","NBN","NCF4","NEUROG3","NFKBIA","NGF","NHLRC2","NLRC4","NNT","NOD2","NR3C2","NRTN","NSUN2","OPLAH","ORAI1","OTULIN","PALB2","PALLD","PARK7","PCSK1","PERCC1","PGM1","PHKA2","PHKB","PHKG2","PI4KA","PIGT","PIK3CD","PIK3CG","PIK3R1","PINK1","PKP1","PLEC","PLVAP","PMM2","PODXL","POLA1","POLG","PPP2R5D","PRKN","PTEN","RABL3","RACGAP1","RAG1","RAG2","RBCK1","RECQL4","REL","RET","RFX5","RFX6","RFXANK","RFXAP","RIPK1","RMRP","RNF113A","RNF168","RRM2B","RUNX1","RYR3","SAA1","SAMD9","SAR1B","SAT1","SCN11A","SCN9A","SCNN1A","SDHD","SEMA3C","SEMA3D","SERPING1","SGSH","SI","SKIC2","SKIC3","SLC10A2","SLC12A1","SLC12A3","SLC19A2","SLC1A3","SLC22A5","SLC25A13","SLC26A3","SLC35C1","SLC37A4","SLC39A4","SLC39A7","SLC46A1","SLC51A","SLC51B","SLC5A1","SLC7A7","SLC9A3","SLCO2A1","SMAD4","SMARCD2","SMO","SNCA","SON","SP110","SPI1","SPINT2","SPP1","SREBF1","SRP19","SRP54","SRSF2","STAR","STAT1","STAT4","STK11","STX3","SUGCT","SYK","SYNJ1","TAOK1","TCF3","TCIRG1","TCN2","TERT","TET2","TFRC","TGFB1","TKFC","TLK2","TMPRSS15","TNFRSF13B","TNFRSF13C","TNFRSF1A","TOM1","TP53","TRAC","TREH","TSHR","TTC7A","TTR","TXNRD2","TYMP","UBE3C","UCHL1","UNC45A","UQCRH","USP7","VPS13C","VPS45","WAS","WDR1","WIPF1","WNT2B","ZAP70","ZBTB24","ZFYVE19","ZNFX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DYSPHAGIA":{"collection":"C5:HPO","systematicName":"M35584","pmid":"","exactSource":"HP:0002015","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002015","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DYSPHAGIA","geneSymbols":["AASS","ABCD1","ACOX1","ACTA1","ACTB","ACTG2","ADAR","ADCY6","ADD3","ADGRG1","ADH1C","ADNP","AFG3L2","AGRN","ALDH18A1","ALDH4A1","ALS2","AMPD2","ANKRD11","ANXA11","AOPEP","APOE","APP","AR","ARHGAP29","ARHGEF38","ARX","ASAH1","ASCC1","ASPA","ATG7","ATN1","ATP13A2","ATP1A2","ATP1A3","ATP2B3","ATP5F1A","ATP7A","ATP7B","ATXN1","ATXN10","ATXN2","ATXN3","ATXN7","ATXN8OS","B4GALNT1","BAP1","BMP4","BRAF","CACNA1A","CACNA1C","CACNA1G","CAD","CARMIL2","CARS2","CASZ1","CAV1","CAVIN1","CCN2","CCR6","CDC73","CDH1","CDON","CEP85L","CHAT","CHCHD10","CHD7","CHMP1A","CHRNA1","CHRND","CHRNE","CLCN1","CLN3","CLN8","CNTNAP1","COBLL1","COL13A1","COL4A5","COL4A6","COL7A1","COLQ","COQ2","COQ4","CRLF1","CRYAB","CSF1R","CSPP1","CTNNB1","CTNS","CYP27A1","CYP7B1","DAB1","DCTN1","DCX","DDHD2","DES","DGUOK","DISP1","DKK1","DLG1","DLL1","DLX4","DMPK","DNAJB6","DNAJC13","DNM1L","DPYSL5","DTYMK","DYRK1A","DYSF","EBF3","ECM1","EIF4G1","EIF5A","EPG5","EPRS1","ERLIN2","EXOSC5","EXOSC9","EXT1","EXT2","FA2H","FARS2","FBXL4","FBXO28","FBXO7","FERMT1","FGF10","FGF8","FGFR1","FGFR2","FGFR3","FIG4","FKRP","FLAD1","FLCN","FLNC","FMR1","FOXH1","FOXP2","FRG1","FTL","FUS","FXN","GABRD","GALC","GAS1","GBA1","GBA2","GCDH","GCH1","GDAP2","GEMIN4","GFAP","GFPT1","GIGYF2","GIPC1","GJB1","GLB1","GLI2","GLUD2","GMPPA","GNAO1","GNAQ","GNB1","GNB2","GNS","GOSR2","GRHL2","GRHL3","GRIN1","GRIN2D","GRM1","GRM7","GUCY1A1","HACD1","HEPACAM","HEXB","HGSNAT","HLA-B","HLA-DQA1","HLA-DQB1","HLA-DRB1","HMBS","HOXB1","HPCA","HPDL","HPRT1","HSD17B10","HSPG2","HTRA1","HTRA2","HTT","IDH1","IDH2","IKZF1","IL6ST","IPO8","IRF2BPL","IRF5","IRF6","ITGA7","JAG1","KAT6A","KAT6B","KATNB1","KBTBD13","KCNAB2","KCNC3","KCND3","KCNK9","KIAA0319L","KIF5A","KIT","KLHL40","KLHL41","KLHL7","KMT2A","KMT2B","KY","LAMA2","LAMB2","LBR","LIFR","LIG3","LMNB1","LMOD3","LMX1B","LRP12","LRPPRC","LRRK2","LUZP1","MACF1","MADD","MAN2C1","MAP2K2","MAP3K20","MAPT","MATR3","MB","MECP2","MECR","MED17","MEGF10","MFF","MGME1","MID1","MINPP1","MMP1","MMP23B","MPZ","MRPS25","MRPS28","MRPS34","MSX1","MT-ATP6","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND5","MT-ND6","MT-TK","MT-TL1","MT-TT","MT-TV","MT-TW","MTHFS","MTRFR","MUSK","MYH11","MYH14","MYH2","MYH8","MYL2","MYMK","MYO1H","MYO9A","MYORG","MYOT","MYPN","NAA10","NCAPG2","NDE1","NDUFA6","NDUFA9","NDUFAF2","NDUFS1","NDUFS3","NEB","NECTIN1","NEFH","NEFL","NEK1","NEU1","NEUROD2","NF1","NF2","NGLY1","NODAL","NONO","NOP56","NOS1","NOTCH2NLC","NOTCH3","NPC1","NPC2","NR4A2","NSRP1","NTRK1","NUP54","NUP62","NUS1","NUTM2B-AS1","OCA2","OPA1","OPTN","PABPN1","PANK2","PAX7","PCNA","PDE8B","PDGFRA","PDP1","PDPN","PEX1","PEX16","PFN1","PI4KA","PIGA","PIGN","PIK3R5","PLA2G6","PLAA","PLCH1","PLEC","PLIN4","PLP1","PLXND1","PMP22","PNKD","POLG","POLG2","POLR3A","POLR3B","PRDM13","PRDM16","PRDX3","PRKCG","PRKCZ","PRKRA","PRNP","PRPH","PRPS1","PSAP","PSEN1","PTCH1","PTS","PUF60","PUS3","PYGM","PYROXD1","QDPR","RAI1","RARS1","REEP1","RELN","REPS1","RERE","REV3L","RHBDF2","RIC1","RILPL1","RLIM","RNASEH1","RNF170","RRM2B","SACS","SATB1","SATB2","SCARB2","SCN3A","SCN4A","SCUBE3","SDHA","SDHB","SDHC","SDHD","SEC31A","SELENON","SEPSECS","SERPING1","SETBP1","SETX","SHH","SIGMAR1","SIK1","SIX3","SKI","SLC12A2","SLC18A3","SLC19A3","SLC1A3","SLC1A4","SLC25A1","SLC25A22","SLC25A4","SLC2A3","SLC44A1","SLC52A2","SLC52A3","SLC5A7","SLC6A9","SLC9A6","SMC1A","SNAP25","SNCA","SNCAIP","SOD1","SON","SPART","SPEN","SPG11","SPG21","SPG7","SPTBN4","SPTLC1","SQSTM1","SRD5A3","SRPX2","STAG2","STIL","STUB1","STXBP1","SYNJ1","SYT14","SYT2","TAF1","TANGO2","TARDBP","TBC1D23","TBCD","TBK1","TBP","TDGF1","TFG","TGIF1","TGM6","TIMM8A","TK2","TNNT1","TNPO3","TOP3A","TOR1A","TP63","TPM2","TPM3","TPP1","TRAPPC12","TRAPPC6B","TRIO","TRIP4","TSEN15","TSEN2","TSEN34","TSEN54","TTBK2","TTC19","TUBB4A","TUBB6","TWNK","TYMP","TYMS","UBB","UBE3A","UBE4B","UBQLN2","UBTF","UCHL1","UNC45B","VAC14","VAMP1","VAPB","VARS1","VCP","VPS11","VPS13A","VPS35","VRK1","WAC","WARS2","WASHC5","WFS1","XRCC1","YARS2","YY1","ZC4H2","ZEB2","ZFYVE26","ZIC2","ZMYM2","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NAUSEA_AND_VOMITING":{"collection":"C5:HPO","systematicName":"M35585","pmid":"","exactSource":"HP:0002017","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002017","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NAUSEA_AND_VOMITING","geneSymbols":["AASS","ABCC6","ABCC8","ABCD1","ACAD8","ACADM","ACADVL","ACAT1","ACSF3","ACSL5","ACTG2","ACY1","ADNP","AGR2","AIMP1","AIP","AKT1","ALAD","ALDH18A1","ALDOB","ALG11","ALG3","ALG8","ALG9","ALPL","ALX4","AMN","ANAPC1","ANG","ANO1","ANXA11","APC","AQP2","ARG1","ASL","ASPA","ASS1","ASXL1","ASXL3","ATP1A2","ATP1A3","ATP6V0A4","ATP7A","ATP7B","ATP9A","ATRX","ATXN2","AVP","AVPR2","BAP1","BAZ1B","BCKDHA","BCKDHB","BCL10","BCL7B","BIRC3","BMPR1A","BOLA3","BRAF","BRCA1","BRCA2","BSND","BTD","BUD23","C4A","CA5A","CACNA1A","CACNA1D","CARD8","CAV1","CCM2","CCN2","CCNF","CCR1","CCR6","CD46","CD55","CDC42BPB","CDC73","CDH23","CDK13","CDK8","CDKN1A","CDKN1B","CDKN2A","CDKN2B","CDKN2C","CDON","CFAP410","CFH","CFI","CHCHD10","CHMP2B","CLCN2","CLCNKA","CLCNKB","CLIP2","CLMP","COA8","COL1A1","COL25A1","COL4A5","COL4A6","COL5A1","COL5A2","COQ2","CPOX","CPS1","CPT2","CTLA4","CTNNB1","CTNS","CTRC","CUBN","CYC1","CYP11A1","CYP11B1","CYP11B2","CYP24A1","D2HGDH","DAO","DAXX","DBH","DBT","DCTN1","DGAT1","DGUOK","DHCR7","DISP1","DLD","DLEC1","DLL1","DLST","DNAJC30","DNAJC6","DNASE1L3","DNMT3A","DOLK","DYRK1A","ECE1","EDN3","EDNRA","EDNRB","EGFR","EIF4H","ELN","ELP1","ENPP1","EPAS1","EPCAM","EPHA4","ERAP1","ERBB2","ERBB3","ERBB4","ESR1","ETFA","ETFB","ETFDH","EWSR1","EXT2","F12","FAH","FAN1","FARSB","FAS","FBLN5","FBP1","FGF13","FGF8","FGFR1","FH","FIG4","FKBP6","FLI1","FLNA","FOCAD","FOXH1","FOXP1","FOXP3","FOXRED1","FSHR","FUS","GALC","GALE","GALT","GAMT","GAN","GAS1","GATA2","GDNF","GFAP","GFM2","GHSR","GK","GLA","GLE1","GLI2","GLT8D1","GPD1","GRB10","GTF2I","GTF2IRD1","GTF2IRD2","HADH","HELLPAR","HIBCH","HIKESHI","HLA-B","HLA-DPA1","HLA-DPB1","HLA-DQA1","HLA-DQB1","HLA-DRB1","HLCS","HMBS","HMGCL","HMGCS2","HNF4A","HNRNPA1","HNRNPK","HPRT1","HS3ST6","HSD3B2","HTRA2","IFNGR1","IKZF1","IL10","IL12A","IL12A-AS1","IL18BP","IL23R","IRAK1","IRF5","ITGA6","ITGB4","IVD","KARS1","KCNA1","KCNJ1","KCNJ11","KCNJ5","KCNQ2","KIAA0319L","KIF1B","KIF21A","KIT","KLRC4","KMT2E","KRAS","KRIT1","KYNU","LAMA3","LAMB3","LAMC2","LBX1","LIG3","LIMK1","LIPA","LMOD1","LPL","LRPPRC","LRRK2","MALT1","MARS1","MATR3","MAX","MC2R","MCCC1","MCCC2","MDH2","MED12","MEFV","MEN1","MET","METTL27","MGME1","MLH1","MLH3","MLXIPL","MLYCD","MMAA","MMAB","MMUT","MPI","MPV17","MRAP","MRPS7","MSH2","MSH6","MSX2","MT-ATP6","MT-CO1","MT-CO2","MT-CO3","MT-CYB","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND5","MT-ND6","MT-TC","MT-TF","MT-TH","MT-TK","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TV","MT-TW","MTHFD1","MTRR","MTTP","MVK","MYC","MYH11","MYLK","NAA10","NAGS","NARS2","NAXD","NBAS","NCF1","NDUFA1","NDUFA11","NDUFA2","NDUFA6","NDUFAF1","NDUFAF2","NDUFAF3","NDUFAF4","NDUFAF5","NDUFAF8","NDUFB10","NDUFB11","NDUFB3","NDUFB8","NDUFB9","NDUFS1","NDUFS2","NDUFS3","NDUFS4","NDUFS6","NDUFS7","NDUFS8","NDUFV1","NDUFV2","NEFH","NEK1","NEUROG3","NEXMIF","NF1","NF2","NFIX","NLRC4","NLRP3","NNT","NODAL","NOTCH2NLC","NPPA","NR3C2","NRTN","NSD1","NUBPL","NUP214","OPLAH","OPTN","OTC","OXCT1","PAH","PALB2","PALLD","PARK7","PCCA","PCCB","PDCD10","PDGFB","PDGFRA","PERCC1","PFN1","PGM1","PHGDH","PHKA2","PHKB","PHKG2","PHOX2A","PIGY","PIK3CA","PINK1","PKHD1","PLCH1","PLEC","PMM2","PMS1","PMS2","PNPT1","PODXL","POLG","PON1","PON2","PON3","PPARGC1A","PPM1D","PPOX","PRKN","PRPH","PRTN3","PSAP","PTCH1","PTEN","PTPN22","PYCR2","RAB27A","RABL3","RANBP2","RARS1","RECQL4","RELA","RET","RFC2","RHBDF2","RNF6","RPS20","RRM2B","RYR1","SAA1","SAR1B","SAT1","SCN2A","SCN5A","SCNN1A","SCNN1B","SCNN1G","SDHA","SDHAF2","SDHB","SDHC","SDHD","SEMA3C","SEMA3D","SEMA4A","SERPING1","SHANK3","SHH","SI","SIX3","SLC12A1","SLC12A3","SLC19A3","SLC1A3","SLC22A12","SLC22A5","SLC25A11","SLC25A13","SLC25A15","SLC25A4","SLC2A9","SLC37A4","SLC46A1","SLC5A1","SLC5A6","SLC6A8","SLC7A7","SMAD4","SMARCB1","SMARCE1","SMC1A","SMO","SMPD1","SNCA","SOD1","SPINK1","SPP1","SPTBN1","SQSTM1","SREBF1","SRSF2","SSR4","ST3GAL5","STAG2","STAR","STAT4","STIL","STK11","STX1A","STX3","SUCLG1","SUFU","SUGCT","SUOX","SYK","SYNJ1","SYT1","TAF15","TARDBP","TBK1","TBL2","TCN2","TDGF1","TERT","TET2","TGFBR2","TGIF1","TICAM1","TIMM22","TIMMDC1","TLR3","TLR4","TMEM126B","TMEM127","TMEM270","TNF","TNFRSF1A","TOM1","TP53","TRAF3","TRAF7","TRANK1","TREH","TREM2","TRMT5","TRMU","TTR","TUBA1A","TUBB2B","TUBB3","TWNK","TXNRD2","TYMP","UBAC2","UBQLN2","UCHL1","UFC1","UNC13A","UNC45A","UNC93B1","UQCC2","UQCRC2","UQCRH","VAPB","VCP","VHL","VPS13C","VPS37D","WT1","WWOX","YARS1","ZEB2","ZFTA","ZIC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NAUSEA":{"collection":"C5:HPO","systematicName":"M35586","pmid":"","exactSource":"HP:0002018","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002018","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NAUSEA","geneSymbols":["ALAD","ALDOB","APC","ASXL1","ATP1A2","CACNA1D","CD46","CDKN1A","CDKN1B","CDKN2B","CDKN2C","CFH","CFI","CLCN2","COL1A1","COL5A1","COL5A2","CPOX","CTRC","CYP11B1","CYP11B2","DLST","DNAJC6","DNMT3A","EDNRA","EPAS1","ESR1","ETFA","ETFB","ETFDH","EXT2","FH","FSHR","GLA","HELLPAR","HMBS","HTRA2","IL18BP","KCNA1","KCNJ5","KCNQ2","KIF1B","KIT","LIG3","LPL","LRRK2","MAX","MDH2","MEN1","MGME1","NAGS","NF1","NPPA","PARK7","PHKA2","PHKB","PHKG2","PINK1","PKHD1","PODXL","POLG","PPOX","PRKN","RET","RRM2B","RYR1","SAA1","SCN2A","SCN5A","SDHA","SDHAF2","SDHB","SDHC","SDHD","SERPING1","SLC1A3","SLC22A12","SLC25A11","SLC2A9","SLC7A7","SNCA","SPINK1","SRSF2","SYNJ1","TET2","TMEM127","TNF","TP53","TRANK1","TYMP","UCHL1","VHL","VPS13C"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CONSTIPATION":{"collection":"C5:HPO","systematicName":"M35587","pmid":"","exactSource":"HP:0002019","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002019","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONSTIPATION","geneSymbols":["ABCD1","ABL1","ACTG2","ADAT3","ADH1C","ADNP","AFF3","AFF4","ALAD","ALDOB","ALPL","AMN","APC","APC2","AQP2","ARID2","ARNT2","ARSB","ARVCF","ASH1L","ATN1","ATP1A2","ATP1A3","ATP7A","ATRX","ATXN2","ATXN8OS","AVPR2","BAZ1B","BCL10","BCL7B","BICRA","BIRC3","BMPR1A","BRAF","BRCA1","BUD23","CACNA1A","CACNA1C","CACNA1S","CAMK2B","CAMTA1","CASR","CASZ1","CAVIN1","CD96","CDC73","CDK13","CDKL5","CDKN1A","CDKN1B","CDKN2B","CDKN2C","CDON","CHCHD2","CHD8","CHMP1A","CHRM3","CHST14","CISD2","CLCNKB","CLIP2","CLP1","CNP","COL1A1","COL5A1","COL5A2","COL7A1","COMT","COQ2","CPOX","CREBBP","CSNK2A1","CTNS","CUBN","DACT1","DCPS","DDC","DDHD2","DDOST","DEAF1","DES","DHCR7","DHPS","DISP1","DLL1","DMPK","DNAJC13","DNAJC30","DNAJC6","DNM1","DPF2","DSE","DUOX2","DUOXA2","DYRK1A","ECE1","EDA","EDN3","EDNRB","EIF4G1","EIF4H","EIF5A","ELF4","ELN","ELP1","EP300","EPCAM","ERBB2","ERBB3","EXT2","FAN1","FAR1","FBXO28","FBXW7","FDFT1","FGF12","FGF13","FGF8","FGFR1","FKBP6","FLI1","FLII","FLNA","FOXA2","FOXE1","FOXG1","FOXH1","FOXP1","FRMD5","GABRA3","GABRD","GALNT2","GAS1","GATAD2B","GBA1","GDNF","GGT1","GIGYF2","GJC2","GLI2","GLUD2","GNB2","GP1BB","GRB10","GRIA1","GRIN1","GTF2I","GTF2IRD1","GTF2IRD2","H1-4","H3-3A","H3-3B","H4C5","HESX1","HEXB","HIRA","HIVEP2","HMBS","HNRNPH2","HNRNPK","HPSE2","HS2ST1","HSPG2","HTRA2","IGBP1","IGHMBP2","IPO8","IQSEC2","IYD","JMJD1C","KCNAB2","KCNH1","KCNJ1","KCNJ18","KDM1A","KIT","KMT2A","KMT2B","KMT5B","KRAS","LAMA3","LAMB3","LAMC2","LBX1","LHX3","LHX4","LIMK1","LMNB1","LMNB2","LMX1B","LRIG2","LRRK2","LUZP1","MADD","MAGEL2","MALT1","MAPT","MARS2","MBD5","MC2R","MDH2","MECP2","MED12","MED12L","MED13","MED25","MEFV","MEN1","METTL27","MITF","MLH1","MLH3","MLXIPL","MLYCD","MMP1","MMP23B","MNX1","MOGS","MRAP","MRPS34","MSH2","MSH6","MSL3","MT-CO1","MT-CO2","MT-CO3","MT-ND1","MT-ND4","MT-ND5","MT-ND6","MT-TE","MT-TF","MT-TH","MT-TK","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TT","MT-TW","MYH11","MYO1H","NAB2","NALCN","NCF1","NFIX","NGF","NGLY1","NKX2-1","NKX2-5","NNT","NODAL","NR4A2","NRTN","NRXN1","NSD1","NSD2","OCA2","OCRL","ODC1","OPA1","OTUD6B","OTX2","P4HTM","PACS1","PAK2","PARK7","PAX8","PCCA","PCCB","PCGF2","PDGFRA","PDPN","PEX16","PHIP","PHOX2B","PIGS","PIGV","PIK3CA","PINK1","PLA2G6","PLCH1","PMS1","PMS2","PODXL","POGZ","POLG","POLG2","POLRMT","POR","POU1F1","POU4F1","PPM1D","PPOX","PPP1CB","PPP1R21","PPP2R1A","PRDM16","PRKCZ","PRKG2","PRKN","PRNP","PROKR2","PROP1","PSMB8","PTCH1","RAI1","RERE","RET","RFC2","RFX7","RMRP","RORA","RPS20","RREB1","RRM2B","SALL1","SATB1","SCN10A","SCN11A","SCN9A","SCNN1A","SCNN1B","SCNN1G","SDHA","SDHB","SDHC","SEC24C","SEMA3C","SEMA3D","SEMA4A","SETD1A","SETD2","SETD5","SH2B1","SHH","SHQ1","SIK3","SIN3A","SIX3","SKI","SLC12A1","SLC12A2","SLC12A3","SLC1A3","SLC25A36","SLC25A4","SLC26A4","SLC38A3","SLC5A5","SLC6A3","SLC6A8","SMARCA2","SMC1A","SMO","SMPD1","SNCA","SNCAIP","SNRPN","SOX10","SOX17","SOX2","SOX3","SPART","SPATA5","SPEN","SPOP","SPTBN1","SRCAP","SREBF1","STAG2","STAR","STAT6","STIL","STX1A","STXBP1","SUPT16H","SYNJ1","TAF1","TANC2","TAOK1","TBCD","TBL1X","TBL2","TBP","TBX1","TCEAL1","TCF20","TCF4","TDGF1","TFE3","TG","TGFBR2","TGIF1","TH","THRA","TLK2","TMCO1","TMEM270","TNFRSF1A","TPO","TRH","TRIM8","TRIO","TSHB","TSHR","TSPOAP1","TTR","TWNK","TXNRD2","TYMP","UBE2A","UBE3A","UBE3B","UBE4B","UCHL1","UFC1","UFD1","UGP2","UNC80","UPF3B","USP7","USP9X","VANGL1","VPS11","VPS13C","VPS35","VPS37D","VPS51","WAC","WASF1","WDR26","WFS1","YME1L1","ZEB2","ZIC2","ZMIZ1","ZNF292","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_GASTROESOPHAGEAL_REFLUX":{"collection":"C5:HPO","systematicName":"M35588","pmid":"","exactSource":"HP:0002020","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002020","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GASTROESOPHAGEAL_REFLUX","geneSymbols":["AARS1","AASS","ABCA3","ABCD4","ACADVL","ACTL6B","ADAMTS2","ADAMTSL2","ADAR","ADAT3","ADGRG1","ADNP","AFF3","AFF4","AGO1","AGO2","AGR2","AGRN","ALDH18A1","ALG12","ALG2","ALG9","ALMS1","AMER1","AP3B1","AP3B2","APC2","ARCN1","ARF1","ARFGEF2","ARID2","ARNT2","ARSL","ARV1","ARVCF","ASCC1","ASCL1","ASNS","ASPA","ASXL1","ASXL3","ATAD1","ATL1","ATL3","ATN1","ATP11A","ATP1A2","ATP1A3","ATP6V0A1","ATP6V1A","ATP6V1B2","ATP7A","ATP9A","ATRX","BAZ1B","BCL7B","BICRA","BLM","BRAF","BRD4","BUD23","CACNA1A","CACNA1B","CACNA1C","CACNA1I","CACNA2D1","CAMK2B","CAMTA1","CASZ1","CAV1","CCDC22","CCDC47","CCN2","CCR6","CDC6","CDK13","CDK19","CDKL5","CDKN1A","CDKN1B","CDKN2B","CDKN2C","CDON","CEACAM3","CEACAM6","CELF2","CENPT","CFTR","CHAMP1","CHAT","CHD7","CHMP1A","CHRNA3","CLCA4","CLCN4","CLIP2","CLP1","CLTC","CNKSR2","CNTNAP1","COG7","COL13A1","COL1A1","COL2A1","COL4A5","COL4A6","COL5A1","COL5A2","COL7A1","COMT","CORO1A","COX11","CPLX1","CPSF3","CREBBP","CRLF1","CSPP1","CTBP1","CTCF","CTHRC1","CYFIP2","DALRD3","DCTN4","DDB1","DDC","DDOST","DEAF1","DHCR7","DHDDS","DISP1","DLL1","DMPK","DNAAF4","DNAJC30","DNM1","DPH5","DPP9","DPYSL5","DSP","DST","DYRK1A","EBF3","EDEM3","EDNRA","EEF1A2","EHMT1","EIF4H","EIF5A","ELN","ELP1","EP300","ERCC6","ERCC8","ERMARD","EXT2","FAM13A","FARSB","FBN1","FBXL4","FBXO28","FBXW7","FCSK","FGF12","FGF13","FGF8","FGFR1","FGFR3","FGFRL1","FKBP6","FLCN","FLII","FLNA","FMR1","FOXG1","FOXH1","FOXP2","FZD2","FZR1","GABBR2","GABRA2","GABRA5","GABRB2","GABRD","GABRG2","GALC","GAS1","GBA1","GCLC","GEMIN4","GLI2","GLRA1","GLRB","GLYCTK","GMNN","GNAS","GNB5","GON7","GP1BB","GPHN","GRB10","GRIA1","GRIN1","GRIN2D","GSTM3","GTF2I","GTF2IRD1","GTF2IRD2","H3-3A","H3-3B","H4C5","HCN1","HDAC8","HECTD4","HFE","HIRA","HIVEP2","HLA-DQA1","HLA-DQB1","HLA-DRB1","HMOX1","HNRNPH1","HNRNPH2","HNRNPK","HRAS","HSPG2","IL7R","IPO8","IQSEC2","IRF5","ITCH","JMJD1C","KAT6A","KAT6B","KCNA2","KCNAB2","KCNB1","KCNH1","KCNN4","KCNQ2","KCNQ3","KIAA0319L","KIAA0586","KIF1A","KMT2A","KMT2B","KMT2C","KMT2D","KNSTRN","LAMA2","LBR","LETM1","LIG3","LIMK1","LMNA","LONP1","LRP5","LRPPRC","LTBP4","LUZP1","LYRM4","MAGEL2","MAP1B","MAP3K7","MAPK1","MAPK8IP3","MBD5","MCEE","MECP2","MED12","MED12L","MED25","MEGF10","MEIS2","MEN1","METTL27","MGAT2","MID1","MIF","MLXIPL","MMP1","MMP23B","MRPS34","MSL3","MSR1","MT-ATP6","MUC5B","MYH11","MYMK","MYO1H","MYO9A","NACC1","NALCN","NCF1","NDUFA13","NECAP1","NEDD4L","NEPRO","NEXMIF","NFIX","NIPBL","NODAL","NONO","NOS1","NPHS1","NRCAM","NRXN1","NSD1","NSD2","NTRK2","NUP214","NUP54","NUP62","NUS1","OCRL","ORC1","ORC4","ORC6","PACS1","PACS2","PAK1","PARN","PARS2","PCGF2","PDHA1","PDPN","PGM3","PHGDH","PHIP","PHOX2B","PI4KA","PIEZO1","PIEZO2","PIGN","PIGT","PIK3CD","PLCH1","POGZ","POLG","POLG2","POLR2A","POR","PORCN","PPM1D","PPP3CA","PRDM13","PRDM16","PRKCSH","PRKCZ","PRMT7","PRUNE1","PSAP","PSPH","PTCH1","PUF60","PYCR1","RAD21","RAI1","RARS2","RERE","RET","RETREG1","RFC2","RHBDF2","RNF125","RNU4ATAC","RPL10","RREB1","RRM2B","RTEL1","SALL1","SAMD9","SATB1","SATB2","SCN3A","SCN8A","SCN9A","SEC23A","SEC24C","SEC31A","SEC63","SEMA3E","SEPSECS","SERPINA1","SETD2","SFTPA1","SFTPA2","SFTPC","SH2B1","SHANK3","SHH","SIAH1","SIN3A","SIX3","SKI","SLC11A1","SLC12A2","SLC13A5","SLC18A3","SLC19A2","SLC1A2","SLC1A4","SLC25A1","SLC25A24","SLC25A4","SLC26A9","SLC2A10","SLC35A2","SLC37A4","SLC38A3","SLC46A1","SLC5A7","SLC6A14","SLC6A3","SLC6A5","SLC9A3","SLC9A6","SMARCA2","SMC1A","SMC3","SMC5","SMG9","SNAP25","SNRPB","SON","SOX5","SPATA5","SPEN","SPOP","SPTAN1","SPTBN4","SPTLC1","SPTLC2","SRCAP","SRPX2","SSR4","STAC3","STAG1","STAG2","STIL","STN1","STX1A","SUCLA2","SUCLG1","SUPT16H","SYNGAP1","SYNJ1","SYT1","SYT2","SZT2","TAF1","TBC1D24","TBL2","TBX1","TBX4","TCEAL1","TCF4","TDGF1","TECPR2","TERC","TERT","TFAP2A","TGFB1","TGIF1","TIMM22","TMEM270","TMEM94","TMTC3","TOP3A","TRAK1","TRAPPC12","TRIP4","TRMT10C","TRPV6","TSEN15","TSEN2","TSEN34","TSEN54","TSPYL1","TTC26","TWIST1","TWNK","TYMP","TYMS","UBA5","UBE4B","UFC1","UFD1","USP7","USP9X","VAMP1","VPS35L","VPS37D","WAC","WASHC5","WDR26","WNK1","WWOX","YWHAG","ZBTB18","ZBTB7A","ZIC2","ZNF699","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ANAL_ATRESIA":{"collection":"C5:HPO","systematicName":"M35589","pmid":"","exactSource":"HP:0002023","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002023","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANAL_ATRESIA","geneSymbols":["ABL1","AMER1","AR","ARVCF","B3GLCT","BCOR","BRCA1","BRCA2","BRIP1","CAPN15","CCDC22","CCNQ","CD19","CD81","CDC45","CDH1","CEP120","CHD7","CHRM3","COMT","COX7B","CR2","CTNND1","DACT1","DCHS1","DPYS","DPYSL5","DYNC2H1","DYNC2I1","DYNC2I2","EHMT1","EMC1","EPCAM","ERCC4","EXTL3","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FGFR2","FKRP","FKTN","FOXF1","FRAS1","FREM2","FUZ","GATA1","GDF3","GDF6","GLI3","GP1BB","GPC3","GPC4","GRIP1","HCCS","HIRA","HOXD13","HSPA9","ICOS","IFT80","INTU","IRF2BP2","JMJD1C","KAT6B","KDM6A","KIF7","KMT2C","KMT2D","LARGE1","LONP1","MAD2L2","MAMLD1","MED12","MEOX1","MID1","MKKS","MKS1","MNX1","MS4A1","MYCN","NAA10","NBN","NDUFB11","NFKB1","NFKB2","PALB2","PERCC1","PIGN","PIGO","PITX2","POMT1","POMT2","PPP2R3C","PQBP1","PRKCD","RAD51","RAD51C","RECQL4","RFWD3","RIPK4","RNU12","RREB1","RSPO2","SALL1","SALL4","SEC24C","SIN3A","SLX4","SPINT2","TBC1D23","TBX1","TBX3","TBXT","TCTN3","THOC6","TNFRSF13B","TNFRSF13C","TNFSF12","TNRC6B","TWIST1","TWIST2","UBE2T","UBR1","UFD1","UPB1","USP9X","VANGL1","VPS35L","WASHC5","WDR35","WNT3","WNT7A","XRCC2","ZIC3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MALABSORPTION":{"collection":"C5:HPO","systematicName":"M35590","pmid":"","exactSource":"HP:0002024","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002024","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MALABSORPTION","geneSymbols":["ABCB11","ABCB4","ACOX2","ADAMTS3","AGA","AIRE","AK2","AKR1D1","AMACR","ANTXR2","APC","APOB","ARX","ASXL1","ATP7A","ATP8B1","BAZ1B","BCL7B","BLNK","BMPR1A","BTK","BUD23","C4A","CALR","CAV1","CBL","CCBE1","CCDC47","CCN2","CCR1","CCR6","CD55","CD79A","CD79B","CDCA7","CEACAM3","CEACAM6","CFTR","CIITA","CISD2","CLCA4","CLIP2","CLMP","CLTRN","COX4I2","CTC1","CTNNB1","CTRC","CYBA","CYBB","CYBC1","CYP7B1","DCTN4","DKC1","DMP1","DNAJC21","DNAJC30","DNMT3B","DSG1","DZIP1L","EDNRA","EFL1","EIF4H","ELN","ENPP1","EPCAM","ERAP1","ERCC2","F5","FAN1","FAS","FAT4","FCGR2A","FKBP6","FLNA","FOXP3","GCLC","GLA","GSTM3","GTF2I","GTF2IRD1","GTF2IRD2","HELLS","HFE","HLA-B","HLA-DQA1","HLA-DQB1","HLA-DRB1","HMOX1","HPGD","HSD3B7","HYOU1","IFNGR1","IGHM","IGLL1","IL10","IL12A","IL12A-AS1","IL23R","IRF4","IRF5","JAK2","KCNN4","KDM6A","KLRC4","KMT2D","KRAS","LBR","LCT","LIG4","LIMK1","LIPA","LPIN2","LRRC8A","MADD","MCM6","MEFV","METTL27","MIF","MLH1","MLH3","MLXIPL","MPI","MSH2","MSH6","MT-TE","MT-TK","MT-TL1","MTOR","MTTP","MYD88","NCF1","NCF2","NCF4","NEUROG3","NHP2","NOP10","NPM1","NSUN2","OCRL","PARN","PCSK1","PERCC1","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PGM3","PIK3CA","PIK3R1","PKHD1","PMM2","PMS1","PMS2","PNLIP","POLG","PRSS1","PRSS2","PTF1A","PTRH2","RECQL4","RFC2","RFX5","RFX6","RFXANK","RFXAP","RMRP","RPS20","RTEL1","RUNX1","SAA1","SAR1B","SATB1","SBDS","SEMA4A","SERPINA1","SH3KBP1","SHPK","SI","SLC10A2","SLC11A1","SLC26A9","SLC29A3","SLC2A2","SLC39A4","SLC39A7","SLC46A1","SLC51B","SLC5A1","SLC6A14","SLC6A19","SLC7A7","SLC9A3","SLCO2A1","SPI1","SPINK1","SPINK5","SRP54","SRSF2","STAT4","STX1A","TBL2","TCF3","TERC","TERT","TET2","TGFB1","TGFBR2","TINF2","TJP2","TLR4","TMEM270","TREH","TRMT5","TYMP","TYMS","UBAC2","UBR1","USB1","VPS37D","WFS1","WRAP53","XRCC4","ZBTB24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ANAL_STENOSIS":{"collection":"C5:HPO","systematicName":"M35591","pmid":"","exactSource":"HP:0002025","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002025","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANAL_STENOSIS","geneSymbols":["AMER1","CACNA1C","CDC45","CDH11","CHD7","DCHS1","FAT4","FERMT1","FOXC1","FRAS1","FREM1","FREM2","GRIP1","HES7","KAT6B","KDM6A","KMT2D","LIG4","MED12","MNX1","NBN","NSUN2","PGAP2","PIGN","PIGO","PITX2","RIPK4","RMRP","SALL1","SALL4","SMO","SNRPB","TBX3","TP63"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABDOMINAL_PAIN":{"collection":"C5:HPO","systematicName":"M35592","pmid":"","exactSource":"HP:0002027","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002027","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABDOMINAL_PAIN","geneSymbols":["ABCA1","ABCB11","ABCB4","ABCC2","ABCD1","ABCG8","ACTG2","ACTN4","ADA2","ALAD","ALDH4A1","ALDOB","ANK1","ANKFY1","ANLN","APC","APOL1","APRT","ARHGAP24","ARHGDIA","ASXL1","ATP7A","ATP8B1","ATRX","BAZ1B","BCL10","BCL11A","BCL7B","BCOR","BIRC3","BMP2","BMP6","BMPR1A","BRCA1","BRCA2","BUD23","C4A","CALR","CARD8","CASK","CASR","CBL","CCND1","CCR1","CD2AP","CD46","CD55","CDC73","CDKN1A","CDKN1B","CDKN2A","CDKN2B","CDKN2C","CEBPE","CEL","CFH","CFI","CFTR","CLCNKB","CLDN16","CLIP2","CLPB","COL4A3","COL4A5","COL4A6","COQ8B","CORIN","CPA1","CPOX","CPT2","CRB2","CTLA4","CTNNB1","CTRC","DAAM2","DAXX","DDIT3","DGAT1","DIS3L2","DLST","DMPK","DNAJC30","DNASE1L3","DNMT3A","ECE1","EDN3","EDNRB","EIF4H","ELANE","ELF4","ELN","EMP2","EPAS1","EPB41","EPB42","EPCAM","EPOR","ERAP1","ERBB2","ERBB3","ESR1","EWSR1","F12","F5","FAN1","FAS","FGF13","FH","FIP1L1","FKBP6","FLI1","FLT1","FOXP1","FSHR","FUS","G6PD","GAPVD1","GBA1","GCGR","GDNF","GFI1","GHSR","GLA","GNA11","GNE","GOSR2","GPC3","GPR35","GTF2I","GTF2IRD1","GTF2IRD2","GUCY2C","GYPC","H19","HBB","HBG1","HBG2","HELLPAR","HEXB","HFE","HLA-B","HLA-DPA1","HLA-DPB1","HLA-DQA1","HLA-DQB1","HLA-DRB1","HMBS","HPS1","HS3ST6","IFNGR1","IKZF1","IL10","IL12A","IL12A-AS1","IL23R","IL6","INF2","IRAK1","IRF2BP2","IRF4","JAK2","KCNN4","KIF1B","KIT","KLF1","KLRC4","KRAS","LACC1","LIG3","LIMK1","LPL","LRP5","MAGI2","MALT1","MAX","MC2R","MCM6","MDH2","MED12","MEFV","MEN1","MET","METTL27","MIF","MITF","MLH1","MLH3","MLXIPL","MLYCD","MMUT","MPL","MRAP","MSH2","MSH6","MST1","MVK","MYC","MYO1E","NABP1","NCF1","NCF4","NF1","NKX2-5","NLRP12","NLRP3","NNT","NOD2","NPHS1","NPHS2","NPM1","NR1H4","NRTN","NUMA1","NUP107","NUP133","NUP160","NUP205","NUP37","NUP85","NUP93","OPLAH","OTC","OTULIN","P4HA2","PALB2","PALLD","PAX2","PIEZO1","PIGA","PIGT","PIGY","PIK3CA","PIK3CG","PKHD1","PLCE1","PML","PMS1","PMS2","PNPT1","POLG","POMT1","PORCN","POU6F2","PPOX","PRKAR1A","PRKCSH","PRSS1","PRSS2","PRTN3","PTEN","PTPN22","PTPN3","PTPRO","RABL3","RAD21","RARA","RBCK1","REST","RET","RFC2","RIPK1","RNF168","RPS20","RRM2B","RUNX1","SAA1","SAT1","SCARB2","SCN1B","SCN5A","SDHA","SDHAF2","SDHB","SDHC","SDHD","SEC63","SEMA3C","SEMA3D","SEMA4A","SEMA4D","SERPING1","SI","SLC12A3","SLC25A11","SLC25A26","SLC4A1","SMAD4","SMO","SOX10","SPINK1","SPP1","SPTA1","SPTB","SPTBN1","SREBF1","SRP19","SRP54","SRSF2","STAR","STAT3","STAT4","STAT5B","STK11","STOX1","STX1A","SYK","TBC1D8B","TBL1XR1","TBL2","TCF4","TCIRG1","TERT","TET2","TGFBR2","TLR4","TMEM127","TMEM270","TNFRSF1A","TP53","TREH","TRIM28","TRIP13","TRPC6","TRPM4","TSC1","TSC2","TXNRD2","TYMP","UBAC2","UNC45A","UQCRH","VHL","VPS37D","WT1","ZBTB16","ZNRF3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CHRONIC_DIARRHEA":{"collection":"C5:HPO","systematicName":"M35593","pmid":"","exactSource":"HP:0002028","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002028","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHRONIC_DIARRHEA","geneSymbols":["ADA","ADNP","AGR2","ALG1","ANTXR2","ASAH1","ATM","ATP5F1A","ATP6AP1","ATP7A","BACH2","BTK","C4B","CARD11","CARD8","CARMIL2","CASP8","CCDC47","CD3D","CD3G","CHD7","CLMP","COG4","COG6","CR2","CYP27A1","DCLRE1C","DNASE2","DOCK2","EPCAM","ERCC2","ETHE1","FCHO1","FOXP3","GUCY2C","HEATR3","HEXB","HYOU1","IDS","IDUA","IGHM","IGKC","IKBKB","IKBKG","IL21R","IL2RA","IL2RG","IL6ST","IL7R","IPO8","IRF2BP2","ITCH","ITGB2","JAK3","KMT5B","LIG4","LRBA","MADD","MGME1","MTTP","MVK","NBN","NFKBIA","NSUN2","ORAI1","OTULIN","PERCC1","PGM1","PIK3CD","PIK3R1","PKP1","POLA1","PPP2R5D","RAG1","RAG2","RBCK1","REL","RMRP","RNF113A","RYR3","SAA1","SAMD9","SKIC2","SLC10A2","SLC35C1","SLC39A4","SLC51A","SLC51B","SLC5A1","SON","SREBF1","STX3","TCF3","TERT","TFRC","TKFC","TNFRSF1A","TOM1","USP7","VPS45","WAS","WIPF1","ZAP70"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_ESOPHAGUS_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M35594","pmid":"","exactSource":"HP:0002031","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002031","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ESOPHAGUS_MORPHOLOGY","geneSymbols":["AAGAB","ACD","ACVRL1","ADA2","ADAMTS2","ADAMTSL2","ALMS1","APC","AR","ARHGAP31","ARNT2","ASCC1","ATAD1","ATP7A","ATP7B","BAZ1B","BCL7B","BLM","BRAF","BRCA1","BRCA2","BRIP1","BUD23","CALR","CARD8","CARMIL2","CBS","CDKN1B","CHD7","CLIP2","COG6","COL14A1","COL4A5","COL4A6","COL7A1","CTC1","CTHRC1","CYBA","CYBB","CYBC1","DCC","DCDC2","DCLRE1B","DGUOK","DKC1","DLEC1","DLL4","DNAJC30","DOCK6","DOCK8","DSG1","DYNC2H1","DYNC2I1","DYNC2I2","DZIP1L","EFTUD2","EIF4H","ELF4","ELN","ENG","EOGT","ERCC4","F5","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FARSB","FBN2","FERMT1","FGF20","FGFR1","FGFR2","FH","FKBP6","FOXF1","GBA1","GBE1","GDF2","GFRA1","GIMAP5","GLRA1","GLRB","GMPPA","GNB2","GPHN","GRB10","GREB1L","GRHL2","GTF2I","GTF2IRD1","GTF2IRD2","HESX1","HLA-B","HOXD13","IARS1","IFT80","IKZF1","INTU","ITGA6","ITGA8","ITGB4","JAK2","KIF12","KIF3B","KIT","KRT18","LAMA3","LAMB3","LAMC2","LIMK1","LIPA","LMBRD1","LMX1B","LZTS1","MAD2L2","MALT1","MAMLD1","MED12","MEN1","METTL27","MID1","MLXIPL","MMP1","MSR1","MYCN","MYH11","NCF1","NCF2","NCF4","NHP2","NOP10","NOTCH1","NOTCH3","NPM1","OTX2","PAH","PAICS","PALB2","PARN","PDE11A","PDGFRA","PDGFRB","PGM3","PHGDH","PHKA2","PHKG2","PKHD1","PLA2G4A","PLEC","POLA1","POLR1B","POLR1C","POLR1D","PRKAR1A","PROKR2","PSPH","RAD21","RAD51","RAD51C","RBPJ","REL","RET","RFC2","RFWD3","RHBDF2","RMRP","RNF6","RPL11","RTEL1","SALL1","SAMD9","SDHA","SDHB","SDHC","SEMA3E","SIX6","SLC12A2","SLC2A10","SLC30A10","SLC6A5","SLX4","SMAD3","SMAD4","SMARCD1","SOX2","SOX3","STAT1","STK11","STN1","STX1A","STXBP1","TBL2","TCF4","TCOF1","TERC","TERT","TGFB1","TGFB2","TGFB3","TGFBR1","TGFBR2","TINF2","TMEM270","TMEM67","TOM1","TRAPPC11","TTC26","TYMS","UBA2","UBE2T","USB1","VPS37D","WBP11","WDR35","WNT7A","WNT9B","WRAP53","WWOX","XRCC2","YY1","ZIC3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ESOPHAGEAL_ATRESIA":{"collection":"C5:HPO","systematicName":"M35595","pmid":"","exactSource":"HP:0002032","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002032","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ESOPHAGEAL_ATRESIA","geneSymbols":["AR","ARNT2","CHD7","DYNC2H1","DYNC2I1","DYNC2I2","EFTUD2","ERCC4","FANCB","FANCD2","FANCL","FGFR1","FGFR2","FOXF1","HESX1","IFT80","ITGB4","MAMLD1","MYCN","OTX2","PAH","PAICS","PLEC","POLA1","PROKR2","RMRP","SIX6","SMARCD1","SOX2","SOX3","WBP11","WDR35","YY1","ZIC3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_POOR_SUCK":{"collection":"C5:HPO","systematicName":"M35596","pmid":"","exactSource":"HP:0002033","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002033","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POOR_SUCK","geneSymbols":["AASS","AGRN","ALG12","ARHGAP29","ARHGEF38","ARID1A","ARV1","ASPA","ATP6V0A1","ATP6V1B2","ATP7A","ATPAF2","ATRX","BMP4","BRAF","CBL","CDH1","CDON","CHAT","CHRNA1","CHRNB1","CHRND","CHRNE","CNTN1","COBLL1","COL13A1","COL2A1","COLQ","DHCR7","DISP1","DLG1","DLK1","DLL1","DLX4","DPYD","DST","DYRK1A","ECHS1","FGF8","FGFR1","FOXH1","GAS1","GGPS1","GLI2","GLRA2","GNB2","GRHL3","HADHA","HADHB","HERC2","HRAS","HTRA2","IDH1","IRF6","KIF5A","KMT5B","LAMB2","LYRM4","MAGEL2","MECP2","MEG3","MKRN3","MSX1","MT-TE","MTM1","MYO9A","NAA20","NADK2","NDUFS8","NECTIN1","NODAL","NONO","NPAP1","NUDT2","NUP214","OCA2","PDGFRA","PEX12","PEX19","PEX2","PEX5","PLAA","PLCH1","POGZ","PPP1R21","PQBP1","PTCH1","PTPN23","PTS","PWAR1","PWRN1","RAPSN","RARS2","RERE","RHBDF2","RIC1","RTL1","SATB2","SEPSECS","SHH","SIK1","SIM1","SIX3","SLC18A3","SLC25A1","SLC25A19","SLC25A22","SLC52A1","SLC5A7","SMARCB1","SMARCC2","SMC1A","SNAP25","SNORD115-1","SNORD116-1","SNRPN","SOX11","SPTBN1","SPTBN4","STAG2","STIL","SYT2","TALDO1","TBC1D24","TDGF1","TGIF1","TP63","TRIO","TRMT10C","TRMU","TSEN15","TSEN2","TSEN34","TSEN54","TSFM","UBA1","UBB","UBE3A","UGP2","UQCRC2","USP7","VAMP1","VRK1","ZIC2","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_RECTUM_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M35597","pmid":"","exactSource":"HP:0002034","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002034","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RECTUM_MORPHOLOGY","geneSymbols":["AKT1","APC","AXIN2","BAZ1B","BCL7B","BCOR","BMPR1A","BUD23","CCBE1","CCNQ","CDK8","CDKN2A","CEACAM3","CEACAM6","CFTR","CHEK2","CLCA4","CLIP2","COL1A1","COL5A1","COL5A2","COX7B","CYBA","CYBB","DACT1","DCTN4","DDB1","DICER1","DNAJC30","DOCK2","EDNRA","EIF4H","ELN","ENG","EPCAM","FAN1","FCGR2A","FKBP6","FREM1","FREM2","GCLC","GREM1","GSTM3","GTF2I","GTF2IRD1","GTF2IRD2","HCCS","HFE","HMOX1","IGHM","IL10RB","INSR","ITGB2","JAK3","KCNN4","KEAP1","KIF7","KIT","KLLN","KRAS","LIG4","LIMK1","LMNA","LONP1","LTBP4","MDM2","METTL27","MID1","MIF","MKKS","MLH1","MLH3","MLXIPL","MNX1","MSH2","MSH3","MSH6","MUTYH","MYH11","NAA10","NCF1","NCF2","NDUFB11","NSUN2","NTHL1","OTUD5","PDE11A","PDGFRA","PI4KA","PIGN","PIGV","PIK3CA","PMS1","PMS2","POLD1","POLE","POLR1B","POLR1C","POLR1D","PRKAR1A","PRMT7","PTEN","RAC2","RAD51C","RECQL4","RFC2","RNF43","RNU12","RPS20","RPS6KA3","SALL1","SALL4","SDHA","SDHB","SDHC","SDHD","SEC23B","SEMA4A","SERPINA1","SLC11A1","SLC26A9","SLC6A14","SLC9A3","SMAD4","SPINT2","STK11","STX1A","TBL2","TCOF1","TCTN3","TGFB1","TGFBR2","TMEM270","TP53","TTC7A","UBR1","USF3","VANGL1","VPS37D"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RECTAL_PROLAPSE":{"collection":"C5:HPO","systematicName":"M35598","pmid":"","exactSource":"HP:0002035","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002035","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECTAL_PROLAPSE","geneSymbols":["BAZ1B","BCL7B","BCOR","BMPR1A","BUD23","CCBE1","CEACAM3","CEACAM6","CFTR","CLCA4","CLIP2","COL1A1","COL5A1","COL5A2","DCTN4","DNAJC30","EDNRA","EIF4H","ELN","FCGR2A","FKBP6","GCLC","GSTM3","GTF2I","GTF2IRD1","GTF2IRD2","HFE","HMOX1","INSR","KCNN4","LIG4","LIMK1","LMNA","LTBP4","METTL27","MIF","MLXIPL","MYH11","NAA10","NCF1","NSUN2","PRMT7","PTEN","RFC2","RPS6KA3","SERPINA1","SLC11A1","SLC26A9","SLC6A14","SLC9A3","SMAD4","STK11","STX1A","TBL2","TGFB1","TMEM270","VPS37D"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HIATUS_HERNIA":{"collection":"C5:HPO","systematicName":"M35599","pmid":"","exactSource":"HP:0002036","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002036","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HIATUS_HERNIA","geneSymbols":["ADAMTS2","ADAMTSL2","ALDH18A1","ATAD1","ATP7A","C1R","CAMTA1","CHST14","COL1A1","COL5A1","COL5A2","EXT2","GLIS3","GLRA1","GLRB","GON7","GPHN","LAGE3","MED12","MYH11","NIPBL","NUP107","NUP133","OSGEP","PORCN","SLC2A10","SLC6A5","TCF4","TGFB3","TNXB","TP53RK","TPRKB","WDR4","WDR73","YRDC","ZBTB7A","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INFLAMMATION_OF_THE_LARGE_INTESTINE":{"collection":"C5:HPO","systematicName":"M35600","pmid":"","exactSource":"HP:0002037","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002037","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INFLAMMATION_OF_THE_LARGE_INTESTINE","geneSymbols":["ABCB1","ACADVL","ARPC1B","BACH2","BCL10","CARD11","CARD8","CARMIL2","CASP10","CIITA","COG6","CTLA4","CYBC1","DCLRE1B","DEF6","DOCK2","ELANE","ELF4","F13A1","F13B","FAS","FASLG","FCHO1","FCN3","FERMT1","FH","FOXP3","GPIHBP1","GPR35","HLA-B","HLA-DRB1","HPS1","IKBKG","IL10RA","IL10RB","IL21","IL37","IL6","INAVA","IRGM","IVNS1ABP","JAK1","LRBA","MAP3K7","MASP2","MEFV","MST1","MYH11","NCF4","NFKBIA","NLRC4","NOD2","OPLAH","PI4KA","PIGY","PIK3CD","PIK3CG","PLCG2","POLA1","PRF1","PRKCD","PSTPIP1","RASGRP1","RBCK1","RET","RFX5","RFXANK","RFXAP","RIPK1","RTEL1","SEMA4D","SKIC2","SKIC3","SLC37A4","SLC9A3","STAT1","STX11","STXBP2","SYK","TCF4","TGFB1","TNFAIP3","TOM1","TTC7A","UNC13D","WAS","WIPF1","XIAP","ZAP70"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PROTEIN_AVOIDANCE":{"collection":"C5:HPO","systematicName":"M35601","pmid":"","exactSource":"HP:0002038","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002038","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROTEIN_AVOIDANCE","geneSymbols":["ASL","ASS1","CPS1","OTC","SLC25A15","SLC7A7"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ANOREXIA":{"collection":"C5:HPO","systematicName":"M35602","pmid":"","exactSource":"HP:0002039","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002039","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANOREXIA","geneSymbols":["ACAT1","ALPL","AQP2","ARG1","ASXL1","ATM","ATP1A2","ATP1A3","ATRX","AVPR2","BCOR","BRCA1","BRCA2","C4A","CACNA1A","CALR","CBL","CBS","CCND1","CCR1","CD247","CD3D","CD3E","CDKN1A","CDKN1B","CDKN2A","CDKN2B","CDKN2C","DAXX","ERAP1","FAS","FIP1L1","FLI1","GBA1","GLA","HLA-B","HLA-DRB1","HLCS","HMGCL","IFNGR1","IL10","IL12A","IL12A-AS1","IL12B","IL23R","IRF2BP2","IRF4","JAK2","KLRC4","KRAS","MC2R","MECP2","MEFV","MEN1","MLX","MMADHC","MMUT","MPL","MRAP","MYD88","NABP1","NFS1","NNT","NPM1","NUMA1","P4HA2","PALB2","PALLD","PKHD1","PML","PRKAR1A","PTPN22","PTPN3","RABL3","RARA","RUNX1","SCARB2","SLC19A2","SLC1A3","SLC39A4","SLC46A1","SLC4A1","SMAD4","SRSF2","STAR","STAT3","STAT4","STAT5B","SYK","TBL1XR1","TET2","TGFB1","TLR4","TP53","TXNRD2","UBAC2","ZBTB16"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ESOPHAGEAL_VARIX":{"collection":"C5:HPO","systematicName":"M35603","pmid":"","exactSource":"HP:0002040","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002040","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ESOPHAGEAL_VARIX","geneSymbols":["ACVRL1","ADA2","ALMS1","ARHGAP31","ATP7B","CALR","CBS","COG6","DCDC2","DGUOK","DLL4","DOCK6","DZIP1L","ENG","EOGT","F5","FARSB","GBA1","GBE1","GDF2","GIMAP5","GNB2","JAK2","KIF12","KIF3B","KRT18","LIPA","MED12","NOTCH1","PHKA2","PHKG2","PKHD1","RBPJ","SLC30A10","SMAD4","STN1","TMEM67","TTC26"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INTRACTABLE_DIARRHEA":{"collection":"C5:HPO","systematicName":"M35604","pmid":"","exactSource":"HP:0002041","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002041","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTRACTABLE_DIARRHEA","geneSymbols":["C5","EPCAM","ITGB4","PLEC","SKIC2","SKIC3","SMARCD2","SYK"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ESOPHAGEAL_STRICTURE":{"collection":"C5:HPO","systematicName":"M35605","pmid":"","exactSource":"HP:0002043","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002043","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ESOPHAGEAL_STRICTURE","geneSymbols":["COL7A1","DCLRE1B","DKC1","FERMT1","GRHL2","HLA-B","IKZF1","LAMA3","LAMB3","LAMC2","MALT1","MMP1","MYH11","NHP2","NOP10","PGM3","SAMD9","TERT"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ZOLLINGER_ELLISON_SYNDROME":{"collection":"C5:HPO","systematicName":"M35606","pmid":"","exactSource":"HP:0002044","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002044","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ZOLLINGER_ELLISON_SYNDROME","geneSymbols":["ATRX","CDKN1A","CDKN1B","CDKN2B","CDKN2C","DAXX","GCGR","MEN1","PIEZO2","YY1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPOTHERMIA":{"collection":"C5:HPO","systematicName":"M35607","pmid":"","exactSource":"HP:0002045","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002045","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOTHERMIA","geneSymbols":["ACADSB","ACADVL","ATP7A","BRAT1","BTNL2","CACNA1C","COA6","COQ9","DBH","DDC","DGUOK","DUOX2","DUOXA2","GABRA2","HESX1","HLA-DRB1","HMGCL","IYD","LHX3","LHX4","LMNB1","MICOS13","MMACHC","MT-ATP6","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND5","MT-ND6","MT-TK","MT-TL1","MT-TV","MT-TW","NTRK1","P4HTM","PAX8","POU1F1","PROP1","SCN10A","SCN11A","SCN9A","SLC25A20","SLC52A1","SLC5A5","SUCLG1","TBCK","TG","TPO","TSHB","TSHR","TSPYL1","UQCRFS1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HEAT_INTOLERANCE":{"collection":"C5:HPO","systematicName":"M35608","pmid":"","exactSource":"HP:0002046","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002046","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEAT_INTOLERANCE","geneSymbols":["ALOXE3","CLDN10","EDA","EDAR","EDARADD","HNRNPK","ITPR2","KRT14","KRT5","LBX1","LDHA","MAP2K1","MAP2K2","MBTPS2","NECTIN4","NFKBIA","OCA2","ORAI1","POFUT1","POGLUT1","PSENEN","SHANK3","UBE3A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MALIGNANT_HYPERTHERMIA":{"collection":"C5:HPO","systematicName":"M35609","pmid":"","exactSource":"HP:0002047","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002047","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MALIGNANT_HYPERTHERMIA","geneSymbols":["ABCA12","ATP2A1","BIN1","CACNA1S","CHRNA1","CHRND","CHRNG","CLCF1","CRLF1","DNM2","EDAR","EDARADD","ELP1","HSPG2","KDF1","MTMR14","MYF6","MYH3","NALCN","PGM1","RYR1","SCN4A","SCN5A","STAC3","TRAF6","TRAPPC9"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PROXIMAL_RENAL_TUBULAR_ACIDOSIS":{"collection":"C5:HPO","systematicName":"M35610","pmid":"","exactSource":"HP:0002049","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002049","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROXIMAL_RENAL_TUBULAR_ACIDOSIS","geneSymbols":["ALDOB","CA2","EHHADH","GATA3","GATM","NDUFAF6","OCRL","PC","SLC34A1","SLC4A4","UQCC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_GLABELLA":{"collection":"C5:HPO","systematicName":"M35611","pmid":"","exactSource":"HP:0002056","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002056","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_GLABELLA","geneSymbols":["ALX1","ASXL2","BICRA","CPLX1","CTBP1","DLK1","DPM1","FBN1","FGFRL1","H4C5","INTS8","LETM1","LMBRD2","MEG3","NBAS","NF1","NSD2","PUS7","RSPO2","RTL1","SPOP","SPTBN1","TASP1","TMEM53","TP53RK","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MYOPATHIC_FACIES":{"collection":"C5:HPO","systematicName":"M35612","pmid":"","exactSource":"HP:0002058","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002058","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MYOPATHIC_FACIES","geneSymbols":["ACTA1","BCL11B","CCDC174","CERT1","COL25A1","DMXL2","DPM2","EBF3","ERGIC1","GFM2","GIPC1","GLE1","GMPPB","GOSR2","HACD1","HOXB1","ITGA7","KCNH1","KLHL41","KNSTRN","LAMA2","LRP12","MAP3K20","MSTO1","MYH2","MYH7","MYL1","MYL2","NEB","NOTCH2NLC","PIEZO2","PIK3CD","PTRH2","PURA","PYROXD1","RILPL1","RYR1","SCYL2","SELENON","SGCB","SLC16A2","SLC52A3","SLC6A8","SLC6A9","SLC9A7","SPTBN4","STAC3","TAFAZZIN","TANGO2","TNNT1","TNPO2","TPM2","TPM3","UBA1","VAMP1","VPS41"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LOWER_LIMB_SPASTICITY":{"collection":"C5:HPO","systematicName":"M35613","pmid":"","exactSource":"HP:0002061","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002061","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOWER_LIMB_SPASTICITY","geneSymbols":["ABCA12","ABCD1","ABHD16A","ACTL6B","ADAR","ADGRG1","AFG3L2","AIFM1","AIMP1","ALDH18A1","ALDH3A2","ALG9","ALS2","AMFR","AMPD2","AP4B1","AP4E1","AP4M1","AP4S1","AP5Z1","ARG1","ARL6IP1","ARSI","ARX","ATL1","ATP13A2","ATP5F1A","ATP5F1D","ATP5F1E","ATP5MC3","ATP5MK","ATP6AP2","ATPAF1","ATPAF2","ATRX","ATXN10","B4GALNT1","BCOR","BICD2","BSCL2","BTD","C19orf12","CACNA1C","CACNA1D","CAMK2B","CAPN1","CCDC88C","CCT5","CLCN4","CLTC","CNTNAP2","COASY","COQ5","COX15","CPT1C","CYP27A1","CYP2U1","CYP7B1","DARS1","DDHD1","DDHD2","DNAJC19","DNM1L","DSTYK","EDNRB","EIF2AK1","ELOVL1","ENTPD1","ERCC1","ERCC4","ERCC6","ERCC8","ERLIN1","ERLIN2","FA2H","FAR1","FARS2","FBXO7","FLRT1","FUS","GALC","GAMT","GAN","GATAD2B","GBA1","GBA2","GBE1","GFAP","GFM2","GJA1","GJC2","GOT2","GPT2","H4C5","HACE1","HEPACAM","HIKESHI","HPDL","HSPD1","IBA57","IDUA","IFIH1","INPP5K","INTS8","KDM5C","KIDINS220","KIF1A","KIF5A","KLC2","KPNA3","KY","L1CAM","LAMB1","LSM11","LYST","MAG","MAN2B1","MARS1","MECP2","MED13L","MICOS13","MRE11","MT-ATP6","MT-ATP8","MTHFR","MTPAP","MTRFR","NDUFA13","NEU1","NEXMIF","NIPA1","NT5C2","ODC1","OPA1","OPA3","PAX3","PDHX","PEX16","PEX3","PGAP1","PI4KA","PIGA","PLP1","PNP","PNPLA6","POLG","POLR3GL","PPP1R15B","PRRT2","PRUNE1","PSAP","RAB18","RAB3GAP2","RARS1","RARS2","REEP1","REEP2","REPS1","RNASEH2A","RNASEH2B","RNASEH2C","RNF170","RNF220","RNU7-1","RTN2","SACS","SAMHD1","SATB1","SATB2","SDHA","SDHAF1","SDHB","SDHD","SELENOI","SETX","SIGMAR1","SLC16A2","SLC1A4","SLC25A15","SLC2A1","SLC30A10","SLC33A1","SOD1","SOX10","SPART","SPAST","SPG11","SPG21","SPG7","SPTLC1","SRPX2","STUB1","STXBP1","SYNE1","TBCD","TBCE","TCEAL1","TECPR2","TFG","TMEM63C","TOE1","TPK1","TREX1","TRMT10A","TTC19","TTR","UBAP1","UBE4A","UCHL1","USP8","VAMP1","VCP","VPS37A","VPS41","VWA3B","WASHC5","WDR45","WDR45B","WDR48","WWOX","ZFR","ZFYVE26","ZFYVE27","ZNF668"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MORPHOLOGICAL_ABNORMALITY_OF_THE_PYRAMIDAL_TRACT":{"collection":"C5:HPO","systematicName":"M35614","pmid":"","exactSource":"HP:0002062","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002062","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MORPHOLOGICAL_ABNORMALITY_OF_THE_PYRAMIDAL_TRACT","geneSymbols":["ABCD1","AIFM1","ALS2","ATL1","ATP1A2","ATXN10","ATXN8OS","BAZ1B","BCL7B","BUD23","CHCHD10","CLIP2","CPT1C","CTC1","DCC","DCTN1","DEAF1","DNAJC30","DNAL4","DPYS","EIF4H","ELN","FKBP6","FKTN","FLII","FUS","GALC","GAN","GTF2I","GTF2IRD1","GTF2IRD2","IQSEC2","KCNC3","KPNA3","L1CAM","L2HGDH","LIMK1","MAPT","METTL27","MLXIPL","MT-ATP6","NCF1","NEFH","NIPA1","NTN1","PDHB","PLA2G6","PLP1","PRKRA","PRNP","PRPH","RAD51","RAI1","RFC2","RTN2","SLC19A3","SLC2A1","SLC33A1","SLC6A3","SOD1","SPAST","SPG11","SPG7","SQSTM1","STX1A","TARDBP","TBK1","TBL2","TMEM270","TREX1","UBAP1","VAPB","VCP","VPS37D","WASHC5"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RIGIDITY":{"collection":"C5:HPO","systematicName":"M35615","pmid":"","exactSource":"HP:0002063","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002063","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RIGIDITY","geneSymbols":["AARS1","ABCA12","ACTA1","ACTL6B","ADAR","ADH1C","AFG3L2","AP3B2","ARSA","ARV1","ARX","ASPA","ATAD1","ATL1","ATP13A2","ATP1A2","ATP1A3","ATP6AP2","ATP6V1A","ATP7B","ATXN2","ATXN3","ATXN8OS","BRAT1","CACNA1A","CACNA1B","CACNA2D1","CASK","CDK19","CELF2","CHCHD2","CHKA","CHMP2B","CLN3","CLTC","CNKSR2","COASY","COQ2","COX11","CP","CRYAB","CSF1R","CTSD","CYFIP2","DAB1","DALRD3","DCTN1","DDHD1","DDHD2","DHCR24","DHDDS","DNAJC13","DNAJC6","DNM1","EEF1A2","EIF2AK2","EIF4G1","FBXO28","FBXO7","FGF12","FGF13","FGFR1","FMR1","FOXRED1","FRRS1L","FTL","FZR1","GABBR2","GABRA1","GABRA2","GABRA5","GABRB2","GABRG2","GALC","GAMT","GBA1","GCDH","GCH1","GFAP","GIGYF2","GJC2","GLB1","GLRA1","GLRB","GLUD2","GPHN","GRIN2D","HCN1","HLA-DQB1","HTRA1","HTRA2","HTT","IFIH1","IMPDH2","INPP5K","ITM2B","JAM2","JPH3","KCNA2","KCNA4","KCNB1","KCND3","KCNN2","KIF11","KRAS","LDHA","LNPK","LOXL1","LRRK2","LSM11","MAPT","MECP2","MECR","MICU1","MME","MT-ATP6","MT-TT","MYO5A","NAXE","NDUFAF6","NECAP1","NOTCH2NLC","NR4A2","NTRK2","NUP54","NUP62","NUS1","OGDH","OPA3","PACS2","PANK2","PARK7","PARS2","PCDH19","PDE8B","PDGFB","PDGFRB","PEX16","PINK1","PLA2G6","PLAA","PNKD","PODXL","POLG","POLG2","PPP3CA","PRKCG","PRKN","PRNP","PRRT2","PSAP","PTCD3","PTS","RAB39B","RANBP2","REEP2","RNASEH2A","RNASEH2B","RNASEH2C","RNU4ATAC","RNU7-1","RRM2B","RYR1","SAMHD1","SCN1A","SCN1B","SCN2A","SCN3A","SCN8A","SCN9A","SEMA6B","SIL1","SLC13A5","SLC19A3","SLC1A2","SLC1A3","SLC20A2","SLC25A4","SLC2A3","SLC30A10","SLC38A3","SLC6A3","SLC6A5","SMPD1","SNCA","SNCAIP","SPR","STUB1","SYNGAP1","SYNJ1","SZT2","TAF1","TBP","TH","TK2","TMEM240","TRAK1","TREX1","TSPOAP1","TUBB4A","TWNK","UBA5","UBTF","UCHL1","UQCRC1","VPS13C","VPS35","WDR45","WWOX","YWHAG"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SPASTIC_GAIT":{"collection":"C5:HPO","systematicName":"M35616","pmid":"","exactSource":"HP:0002064","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002064","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPASTIC_GAIT","geneSymbols":["ABCD1","ALDH18A1","ALS2","AMPD2","AP5Z1","APC","ARG1","ARL6IP1","ARSI","ATAD3A","ATL1","ATP6AP2","B4GALNT1","BSCL2","CACNA1G","CCT5","CPT1C","CYP2U1","CYP7B1","DDHD1","DDHD2","DSTYK","ERCC6","ERLIN1","ERLIN2","FAR1","FARS2","FBXO7","FUCA1","GBA2","GJC2","HSPD1","KCNA1","KCNA4","KIDINS220","KIF1A","KIF5A","KPNA3","LMNB1","MAG","MECP2","MFSD2A","NIPA1","NT5C2","PGAP1","PLP1","POLR3B","REEP1","REEP2","RTN2","SACS","SHMT2","SLC25A15","SLC33A1","SLC39A14","SPART","SPAST","SPG11","SPG7","TACO1","TECPR2","TMEM63C","UBA5","UBAP1","USP8","VAMP1","VCP","WASHC5","WDR26","WDR48","WLS","ZFR","ZFYVE26","ZFYVE27"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_GAIT_ATAXIA":{"collection":"C5:HPO","systematicName":"M35617","pmid":"","exactSource":"HP:0002066","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002066","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GAIT_ATAXIA","geneSymbols":["AARS1","AASS","ABCA2","ACOX2","ADAR","ADSL","AFG3L2","ALDH18A1","ANO10","AP1S2","AP2M1","APTX","ARCN1","ARID1B","ARSA","ATAD3A","ATCAY","ATN1","ATP13A2","ATP1A2","ATP1A3","ATXN10","ATXN2","ATXN3","ATXN8OS","B9D1","BEAN1","BRAT1","BSCL2","C12orf4","CACNA1A","CACNA1G","CACNA2D2","CAMTA1","CAPN1","CARS1","CAV1","CCDC88C","CDKL5","CHAMP1","CHMP1A","CIITA","CLCN2","CLN8","COA7","COQ2","CP","CTBP1","CTSF","CUL4B","CWF19L1","DCPS","DEAF1","DKK1","DNAJC3","DNAJC6","DOCK3","EBF3","EEF2","EIF2AK2","EIF2S3","ELOVL4","ELOVL5","ERBB3","ERCC2","ERCC3","ERMARD","FA2H","FAT2","FBXO28","FDXR","FGF14","FLVCR1","FMR1","FXN","FZR1","GABBR2","GABRA1","GABRG2","GBA2","GCH1","GDAP2","GJB1","GPAA1","GRIA2","GRID2","GRIK2","GRIN2A","GRM1","GTF2E2","GTF2H5","GTPBP2","HERC1","HEXB","HLA-DQB1","HPDL","HSD17B4","HTT","IFRD1","IMPDH2","IQSEC1","ITPR1","KCNC3","KCND3","KDM5B","KIF1C","LARS2","LETM1","LITAF","LMNB1","LMNB2","LNPK","MAB21L1","MAN2B1","MARS2","MECP2","MME","MORC2","MPLKIP","MPZ","MRE11","MT-ATP6","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND5","MT-ND6","MT-TK","MT-TL1","MT-TV","MT-TW","MTPAP","MTTP","NAA20","NARS1","NAXD","NEFL","NOP56","NPC1","NR4A2","NTNG1","NUP54","NUP62","NUS1","OGDH","OPHN1","PAK1","PCDH19","PCNA","PDP1","PDYN","PEX10","PEX16","PEX6","PIGG","PIGL","PLA2G6","PLD3","PMP22","PMPCA","PNPLA6","PNPT1","PODXL","POLG","POLG2","POLR3B","POU3F4","PPP1R15B","PPP1R21","PPP2R1A","PPP2R5D","PRDM13","PRDX3","PRKCG","PRNP","PRRT2","PRX","PSAP","RAB11B","RFC1","RFX5","RFXANK","RFXAP","RNF113A","RNU12","RPL10","RRM2B","RUBCN","SACS","SCARB2","SCN1A","SCN1B","SCN2A","SCN8A","SCN9A","SCYL1","SDHA","SETX","SH3TC2","SIL1","SLC19A3","SLC25A4","SLC25A46","SLC9A1","SLC9A6","SMARCA2","SMC1A","SNRPN","SPG7","SPTBN2","SQSTM1","STUB1","SYNE1","SYNJ1","TANGO2","TARS1","TBC1D24","TBC1D2B","TBP","TCF4","TECPR2","TGM6","TH","THG1L","TMEM106B","TMEM163","TMEM240","TPK1","TPP1","TPR","TRAPPC6B","TRIO","TRPC3","TSPOAP1","TTBK2","TTC19","TUBB4A","TWNK","UBA5","UBE3A","UBTF","UCHL1","UROC1","VLDLR","VPS13D","VPS41","VPS51","WDR26","WDR81","WWOX","XRCC1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BRADYKINESIA":{"collection":"C5:HPO","systematicName":"M35618","pmid":"","exactSource":"HP:0002067","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002067","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BRADYKINESIA","geneSymbols":["ACTA1","ADGRV1","ADH1C","ATL1","ATP13A2","ATP1A3","ATP5MK","ATP6AP2","ATXN1","ATXN10","ATXN2","ATXN3","ATXN8OS","CHCHD2","CLN3","CLTC","COASY","COQ2","CSF1R","DCTN1","DHDDS","DNAJC12","DNAJC13","DNAJC6","EARS2","EIF2AK1","EIF2AK2","EIF4G1","FARS2","FBXO7","FGF13","FMR1","FTL","GABRA1","GABRD","GABRG2","GBA1","GCH1","GIGYF2","GLUD2","HCN1","HTRA2","HTT","IMPDH2","JAM2","JPH3","KBTBD13","KCNC3","KCNN2","KLHL41","LRRK2","MAPT","MECP2","MT-TT","MYORG","MYPN","NEB","NR4A2","PANK2","PARK7","PCDH19","PDE8B","PDGFB","PDGFRB","PET117","PIDD1","PINK1","PLA2G6","PODXL","POLG","POLG2","PPP2R2B","PRDX3","PRKAR1B","PRKN","PRKRA","PRNP","PTS","RAB39B","RRM2B","SCN1A","SCN1B","SCN2A","SCN9A","SLC20A2","SLC25A4","SLC2A3","SLC30A10","SLC39A14","SLC6A3","SNCA","SNCAIP","SPR","STX1B","SYNJ1","TACO1","TAF1","TBP","TENM4","TH","TK2","TPM2","TPM3","TSPOAP1","TTC19","TWNK","UBAP1","UCHL1","UQCRC1","VPS13A","VPS13C","VPS35","WDR45"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NEUROMUSCULAR_DYSPHAGIA":{"collection":"C5:HPO","systematicName":"M35619","pmid":"","exactSource":"HP:0002068","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002068","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEUROMUSCULAR_DYSPHAGIA","geneSymbols":["ACTA1","COQ2","FARS2","GALC","KBTBD13","KLHL41","MAPT","MYPN","NEB","TPM2","TPM3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BILATERAL_TONIC_CLONIC_SEIZURE":{"collection":"C5:HPO","systematicName":"M35620","pmid":"","exactSource":"HP:0002069","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002069","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BILATERAL_TONIC_CLONIC_SEIZURE","geneSymbols":["ABCC8","ACADM","ACADVL","ACO2","ACTL6B","ACY1","ADAM22","ADGRG1","ADGRV1","ADORA2A","ADPRS","AFF3","AFG3L2","AGO1","AKT2","ALDH5A1","ALDH7A1","AP2M1","AP3D1","APC2","ARFGEF1","ARHGEF9","ARNT2","ARX","ASAH1","ASPA","ATP1A2","ATP1A3","ATP5F1D","ATP6AP2","ATP6V0A1","ATP6V1A","ATP6V1B2","ATRX","BTD","BUB1B","CABP4","CACNA1A","CACNA1B","CACNA1D","CACNA1H","CACNB4","CAMK2A","CAMK2B","CAMTA1","CARS2","CASK","CCDC88A","CDC40","CDKL5","CEP85L","CERS1","CERT1","CHD2","CHMP2B","CHRNA2","CHRNA4","CHRNB2","CIC","CILK1","CLCN2","CLCN3","CLCN4","CLN3","CLN6","CLN8","CLPB","CLTCL1","CNTN2","CNTNAP2","COL4A2","COQ5","COX8A","CPA6","CPLX1","CRADD","CRH","CSTB","CTLA4","CTSF","CUX2","D2HGDH","DEAF1","DENND5A","DEPDC5","DHDDS","DHX16","DMXL2","DNAJC5","DNM1","DNM1L","DOCK7","DOHH","DOLK","DPH5","DPYSL5","DYRK1A","EEF1A2","EFHC1","EPM2A","ERCC6","EXOC8","EZH2","FA2H","FAR1","FBXO28","FGF12","FGF13","FGFR1","FIG4","FRRS1L","FZR1","GABBR2","GABRA1","GABRA3","GABRA5","GABRB3","GABRD","GABRG2","GAD1","GAL","GAMT","GBA1","GCK","GET4","GJA5","GJA8","GLRA2","GLYCTK","GNAI1","GNAO1","GNB1","GOSR2","GPAA1","GPHN","GPT2","GRIA2","GRIA3","GRIK2","GRIN1","GRIN2A","GRIN2B","GRM7","GRN","GTPBP2","GYS1","HACE1","HADHB","HCN1","HCN2","HERC1","HEXB","HHAT","HID1","HNRNPU","HSD17B4","HTRA1","IER3IP1","INS","IQSEC2","IREB2","JRK","KCNA1","KCNB1","KCNC1","KCNC2","KCNJ11","KCNK4","KCNMA1","KCNN2","KCNQ2","KCNQ3","KCNT1","KCTD7","KDM6A","KIF4A","KMT2D","KPTN","LAMC3","LBR","LGI1","LGI4","LMAN2L","LMNB2","LNPK","LONP1","MACF1","MAPK10","MAPT","MARCHF6","MAST3","MECP2","METTL23","MICAL1","MOCS2","MT-ATP6","MT-CO1","MT-CO2","MT-CO3","MT-CYB","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND5","MT-ND6","MT-TC","MT-TF","MT-TH","MT-TK","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TV","MT-TW","MTFMT","MTHFR","NAA10","NARS1","NBEA","NDUFA1","NDUFA2","NDUFA4","NDUFAF4","NDUFS4","NEK1","NEUROD2","NEXMIF","NHLRC1","NIPA1","NPRL2","NPRL3","NR4A2","NSD1","NUP214","NUS1","OGDH","OGDHL","PACS2","PAK3","PCDH19","PCYT2","PDHA1","PDSS2","PDX1","PEX5","PGAP1","PGAP2","PGAP3","PHGDH","PIDD1","PIGA","PIGF","PIGG","PIGL","PIGO","PIGP","PIGQ","PIGS","PIGT","PIGV","PIGW","PIGY","PLCB1","PLCH1","PLPBP","PNKP","POLG","PPFIBP1","PPIL1","PPP2CA","PPP3CA","PRPS1","PRRT2","PSAP","PSEN1","PSPH","PTEN","PURA","PUS3","PYCR2","RAB18","RELN","RFX7","RNF13","ROGDI","RORB","RPL10","SAMD12","SARDH","SARS1","SATB2","SCN1A","SCN1B","SCN2A","SCN3A","SCN8A","SCN9A","SEPSECS","SETD1A","SETD1B","SETD2","SIK1","SLC12A5","SLC1A2","SLC1A3","SLC1A4","SLC22A5","SLC25A19","SLC25A22","SLC2A1","SLC32A1","SLC38A3","SLC6A1","SLC6A5","SLC7A6OS","SLC9A6","SMC1A","SP110","SPATA5","SPATA5L1","SQSTM1","SRPX2","ST3GAL3","ST3GAL5","STARD7","STAT3","STUB1","STX1B","STXBP1","SUOX","SYNGAP1","SYNJ1","SZT2","TANGO2","TBC1D24","TBCD","TECPR2","THOC2","TMEM106B","TMEM94","TMX2","TP53","TRAPPC11","TRAPPC6B","TREM2","TRIM8","TRPM3","TSEN15","TSEN2","TSEN34","TSEN54","TSFM","TUBA1A","TUBA8","TXN2","UBE3A","UBE4A","UFSP2","VAMP2","VCP","VPS13A","VPS53","WAC","WARS1","WDR26","WDR62","WWOX","YEATS2","YIPF5","ZMYND11","ZNF142","ZNF526"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LIMB_ATAXIA":{"collection":"C5:HPO","systematicName":"M35621","pmid":"","exactSource":"HP:0002070","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002070","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIMB_ATAXIA","geneSymbols":["ABCD1","AFG3L2","ANO10","APTX","ATN1","ATXN1","ATXN10","ATXN2","ATXN3","ATXN8OS","BCL11A","BEAN1","CAPN1","CERS1","CLCN2","COQ2","COX6B1","CP","CSTB","CWF19L1","CXCR4","CYP7B1","EEF2","ELOVL4","ELOVL5","FAT2","FGF12","FGF14","FXN","GBA1","GJB1","GRID2","ITPR1","JAM2","KCNC3","KCND3","MAN2B1","MME","MPZ","MSTO1","MTPAP","NEFL","NKX6-2","NOP56","PDYN","PEX10","PLD3","PMP22","PMPCA","POLG","PRDX3","PRICKLE1","PRKCG","PRNP","RFC1","RTN2","RUBCN","SCARB2","SCN1B","SCYL1","SDHA","SETX","SIL1","SLC30A9","SLC9A1","SPTBN2","SQSTM1","STUB1","SYNE1","SYT14","TBC1D23","TBC1D24","TBP","TGM6","TMEM240","TPP1","TTBK2","TTC19","TTR","UBA5","UBAP1","VAMP1","VPS13D","VPS41","VRK1","WASHC5","WWOX","XRCC1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_EXTRAPYRAMIDAL_MOTOR_FUNCTION":{"collection":"C5:HPO","systematicName":"M35622","pmid":"","exactSource":"HP:0002071","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002071","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_EXTRAPYRAMIDAL_MOTOR_FUNCTION","geneSymbols":["ABCA7","ACAT1","ACD","ACTA1","ADAR","ADGRV1","ADH1C","AFG3L2","ALG13","ALS2","AOPEP","AP5Z1","APOE","APP","ARHGEF9","ASNS","ATL1","ATN1","ATP13A2","ATP1A3","ATP2B3","ATP5MK","ATP6AP2","ATP7B","ATXN1","ATXN10","ATXN2","ATXN3","ATXN7","ATXN8OS","BAP1","BAZ1B","BCL7B","BOLA3","BRAT1","BUD23","C19orf12","C9orf72","CACNA1I","CAMK2B","CAT","CDK4","CDKN2A","CDKN2B","CHCHD10","CHCHD2","CHMP2B","CLIP2","CLN3","CLN6","CLPB","CLTC","COASY","COQ2","CP","CSF1R","CTC1","CTSF","CYP27A1","DCAF17","DCTN1","DDB2","DDC","DENND5A","DHDDS","DNAJC12","DNAJC13","DNAJC30","DNAJC5","DNAJC6","DPYS","EARS2","EIF2AK1","EIF2AK2","EIF4G1","EIF4H","ELN","ERCC2","ERCC3","ERCC4","ERCC5","ETHE1","FA2H","FARS2","FBXO7","FGF13","FKBP6","FKTN","FLRT1","FMR1","FTL","FUS","GABRA1","GABRD","GABRG2","GAMT","GBA1","GBE1","GCH1","GIGYF2","GLB1","GLRA1","GLRB","GLUD2","GM2A","GPHN","GRIA4","GRN","GTF2I","GTF2IRD1","GTF2IRD2","HCN1","HEXA","HEXB","HIKESHI","HLA-DQB1","HPRT1","HTRA1","HTRA2","HTT","IFIH1","IMPDH2","JAM2","JPH3","KBTBD13","KCNC3","KCNN2","KIF5A","KLC2","KLHL41","L2HGDH","LIMK1","LIPT1","LRRK2","LSM11","LYST","MAPT","MC1R","MECP2","MED11","METTL27","MGMT","MICU1","MINPP1","MITF","MLXIPL","MMACHC","MPO","MT-TT","MTHFS","MYORG","MYPN","NAGA","NCF1","NDUFS7","NEB","NFU1","NOS3","NOTCH3","NR4A2","OPA3","PANK2","PARK7","PCBD1","PCDH19","PDE10A","PDE8B","PDGFB","PDGFRB","PET117","PIDD1","PINK1","PLA2G6","PLAA","PLAU","PLP1","PODXL","POLG","POLG2","POT1","PPP2R2B","PRDX1","PRDX3","PRKAR1B","PRKN","PRKRA","PRNP","PSAP","PSEN1","PSEN2","PTS","PURA","RAB39B","RARS1","RBM10","RFC2","RNASEH2A","RNASEH2B","RNASEH2C","RNU7-1","RRM2B","SAMD9L","SAMHD1","SCN1A","SCN1B","SCN2A","SCN9A","SERAC1","SERPINI1","SIGMAR1","SLC16A2","SLC18A2","SLC20A2","SLC25A4","SLC2A1","SLC2A3","SLC30A10","SLC39A14","SLC6A3","SLC6A5","SLC6A9","SNCA","SNCAIP","SNCB","SNORD118","SOD1","SORL1","SPG11","SPG21","SPR","SPTLC1","SQSTM1","STUB1","STX1A","STX1B","SYNE1","SYNJ1","SYT1","TACO1","TAF1","TANGO2","TARDBP","TBC1D24","TBK1","TBL2","TBP","TENM4","TERF2IP","TERT","TH","TK2","TMEM106B","TMEM240","TMEM270","TNIK","TNR","TOMM40","TPM2","TPM3","TRAK1","TREM2","TREX1","TRPM7","TSEN2","TSEN54","TSPOAP1","TSPYL1","TTC19","TWNK","UBAP1","UBTF","UCHL1","UQCRC1","UQCRQ","VCP","VPS13A","VPS13C","VPS35","VPS37D","WARS2","WDR45","WDR73","XPA","XPC","XPR1","ZFYVE26","ZMYM2","ZNF592"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CHOREA":{"collection":"C5:HPO","systematicName":"M35623","pmid":"","exactSource":"HP:0002072","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002072","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHOREA","geneSymbols":["AARS1","ABHD16A","ACAT2","ACP5","ADA2","ADAR","ADCY5","ALS2","AP1S2","AP2M1","APTX","ARSA","ARX","ATG7","ATM","ATN1","ATP1A2","ATP1A3","ATP5MK","ATP7A","ATXN1","ATXN2","ATXN7","BANK1","BLK","C4A","C4B","CACNA1A","CACNA1B","CACNA2D1","CACNA2D2","CARS2","CASK","CDKL5","CERS1","CHKA","CHMP1A","CIC","CLCN4","CLPB","COX20","CP","CR2","CTDP1","CTLA4","DCAF17","DDC","DHX30","DLAT","DMXL2","DNASE1","DPYSL5","DYSF","EIF2AK2","ELP2","ERCC2","ERCC6","ETS1","FBXL4","FBXO28","FCGR2B","FCGR3B","FOXG1","FRRS1L","FTL","FUS","FXN","GABRA2","GABRG2","GAMT","GCDH","GCH1","GJC2","GLYCTK","GM2A","GNAO1","GNAS","GON7","GPR88","GRIA2","GRIA4","GRIK2","GRIN1","GRIN2B","GRM7","GTPBP2","GUF1","HCFC1","HLA-DRB1","HPRT1","HSD17B10","HSPD1","HTT","IGHG1","IL10","IRAK1","IREB2","IRF2BPL","IRF5","ITGAM","JAZF1","JPH3","KCNA1","KCNMA1","KCNN2","KIAA0319L","KIF1C","KIF5A","LRPPRC","MECP2","MECR","MED23","MICOS13","MICU1","MMUT","MRE11","MRM2","MRPS34","MT-ATP6","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND5","MT-ND6","MT-TK","MT-TL1","MT-TV","MT-TW","MYORG","NADK2","NAXD","NDUFA1","NDUFA13","NDUFA9","NDUFAF5","NEUROD2","NGLY1","NKX2-1","NPTX1","NUP54","NUP62","OPA3","PANK2","PDCD1","PDE10A","PDE2A","PDGFB","PDGFRB","PDHA1","PIGN","PIGP","PIGQ","PIK3R5","PITX3","PLA2G6","PLP1","PNKD","PNKP","PNPT1","POLG","POU3F3","PRNP","PRRT2","PSAP","PSMC1","PTPN22","PTS","PUM1","PXK","QDPR","RHOBTB2","RNF216","SCN1A","SCN1B","SCN2A","SCN8A","SEPSECS","SETX","SH2B1","SHQ1","SIGMAR1","SIK1","SLC13A5","SLC16A2","SLC19A3","SLC1A3","SLC20A2","SLC25A22","SLC25A42","SLC2A1","SLC2A3","SLC30A9","SLC32A1","SLC6A3","SLC6A8","SPG11","SPOP","SPP1","SPR","SPTBN4","SPTLC1","ST3GAL5","STAT4","STUB1","STXBP1","SUCLG1","SUOX","SYT1","TAF1","TBP","TIMM50","TLR7","TMEM106B","TMEM151A","TNFAIP3","TNFSF4","TNIP1","TNR","TOE1","TRAPPC11","TREM2","TREX1","TRIM8","TRPM3","TSEN15","TSEN2","TSEN34","TSEN54","TUBB4A","TYROBP","UBE2L3","UBTF","UGDH","VAMP2","VPS13A","VPS4A","WARS2","XK","XPA","XPR1","ZNF142"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PROGRESSIVE_CEREBELLAR_ATAXIA":{"collection":"C5:HPO","systematicName":"M35624","pmid":"","exactSource":"HP:0002073","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002073","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROGRESSIVE_CEREBELLAR_ATAXIA","geneSymbols":["ANO10","ATM","ATN1","ATP13A2","ATP6V0A2","ATXN1","ATXN10","ATXN2","ATXN3","ATXN7","ATXN8OS","AUH","CACNA1A","CHCHD10","CLCN4","COQ2","COQ8A","DARS2","DKK1","EEF2","ELOVL4","FUS","GBA2","GJB1","GLS","HTT","KCNC3","KCND3","KCTD7","MARS2","MME","MSTO1","MT-TE","MTPAP","MVK","PDYN","PEX10","PEX6","PNPT1","POLG","PPP2R2B","PRDM8","PRKCG","PRNP","RFC1","SACS","SCYL1","SLC25A15","SLC44A1","SPTBN2","SQSTM1","TARDBP","TBK1","TGM6","TMEM240","TPP1","TTBK2","TTPA","VCP","VPS13D","VPS41","WFS1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INCREASED_NEURONAL_AUTOFLUORESCENT_LIPOPIGMENT":{"collection":"C5:HPO","systematicName":"M46068","pmid":"","exactSource":"HP:0002074","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002074","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_NEURONAL_AUTOFLUORESCENT_LIPOPIGMENT","geneSymbols":["CLN3","CLN5","CLN6","CLN8","CTSD","DNAJC5","PPT1","TPP1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DYSDIADOCHOKINESIS":{"collection":"C5:HPO","systematicName":"M35625","pmid":"","exactSource":"HP:0002075","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002075","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DYSDIADOCHOKINESIS","geneSymbols":["ABCB7","AFG3L2","ATM","ATN1","ATXN1","ATXN10","ATXN2","ATXN7","CARS1","CAV1","CCDC88C","CLN5","DAB1","ELOVL4","FA2H","FMR1","GCH1","GGT1","GJB1","GRID2","GRM1","ITPR1","KCNJ10","LMNB1","MRE11","MSTO1","NFASC","PDE8B","PDGFB","PDGFRB","PLA2G6","POLG","POLR3B","POU3F4","PPP2R2B","PRDM13","RFC1","SAMD9L","SLC18A2","SLC20A2","SLC25A15","SLC30A10","SLC5A6","SLC9A1","SPG21","SPG7","SPTBN2","SQSTM1","TTC19","TTPA","TUBB4A","VLDLR","WDR81","XRCC1","XRCC4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MIGRAINE":{"collection":"C5:HPO","systematicName":"M35626","pmid":"","exactSource":"HP:0002076","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002076","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MIGRAINE","geneSymbols":["ACSF3","ACVRL1","ADA2","ADAMTS3","ADAMTSL1","AIP","ALPK1","AMACR","APP","ATP1A2","BMPR1A","C4A","CACNA1A","CCR1","CLTRN","COL3A1","COL4A1","COL5A1","COPB1","CSNK1D","DEPDC5","DNM1L","EDNRA","ENG","EPCAM","EPHB4","ERAP1","ESR1","FAN1","FAS","FGFR2","FGFR3","FRMD5","GABRG2","GATA2","GDF2","GP1BA","GP1BB","GP9","GPR101","GRIN2A","HLA-B","HTR1A","IFNGR1","IL10","IL12A","IL12A-AS1","IL12B","IL23R","JAG1","KCNA1","KCNK18","KLRC4","KRAS","LGI1","MEFV","MLH1","MLH3","MLX","MSH2","MSH6","MT-CO1","MT-CO2","MT-CO3","MT-CYB","MT-ND1","MT-ND4","MT-ND5","MT-ND6","MT-TC","MT-TF","MT-TH","MT-TK","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TV","MT-TW","MVK","MYD88","MYORG","NDP","NF1","NFIX","NLRP3","NOP56","NOTCH3","OPA1","PDGFB","PDGFRB","PEX11B","PGK1","PIK3CA","PMS1","PMS2","POLG","POLG2","PRORP","PRRT2","RASA1","RELA","RELN","RNASEH1","RPS20","RRM2B","SCN1A","SEMA4A","SH2B1","SLC1A3","SLC25A4","SLC2A1","SLC6A19","SMAD3","SMAD4","SMARCAL1","SMARCB1","SPOP","SQOR","SRPX2","STARD7","STAT4","STIM1","SUFU","TGFBR2","TLR4","TNF","TNFRSF1A","TREX1","TWIST1","TWNK","UBAC2","ZFTA"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MIGRAINE_WITH_AURA":{"collection":"C5:HPO","systematicName":"M35627","pmid":"","exactSource":"HP:0002077","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002077","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MIGRAINE_WITH_AURA","geneSymbols":["ATP1A2","CACNA1A","COL4A1","CSNK1D","EDNRA","ESR1","KCNK18","NOTCH3","PRRT2","SCN1A","TNF","TREX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_TRUNCAL_ATAXIA":{"collection":"C5:HPO","systematicName":"M35628","pmid":"","exactSource":"HP:0002078","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002078","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TRUNCAL_ATAXIA","geneSymbols":["ABCD1","ADGRG1","ANO10","AP2M1","APTX","ATCAY","ATG5","ATN1","ATP1A3","ATP2B3","ATP8A2","ATXN1","ATXN3","BCL11A","CACNA1A","CACNB4","CEP120","CERS1","CLN5","COG5","COX6B1","CWF19L1","CYP7B1","DAB1","DARS2","DOHH","EBF3","EEF2","EIF2AK2","FGF14","GBA2","GRID2","HARS1","HIBCH","ITPR1","KCND3","KCTD7","LRPPRC","MAST1","MECP2","MSTO1","MT-TN","MT-TS1","NAT8L","NDUFA13","NKX6-2","NOP56","OPA1","PEX10","PIGA","POLG","POLR3A","PPP1R15B","PRNP","RNU12","SACS","SDHA","SHMT2","SLC1A3","SLC25A15","SLC30A10","SLC52A3","SLC9A6","SPTBN2","STUB1","SURF1","SYT14","TPK1","TRAPPC11","TTBK2","TTR","UROC1","VLDLR","VPS13D","VPS41","VWA3B","WDR81"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPOPLASIA_OF_THE_CORPUS_CALLOSUM":{"collection":"C5:HPO","systematicName":"M35629","pmid":"","exactSource":"HP:0002079","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002079","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASIA_OF_THE_CORPUS_CALLOSUM","geneSymbols":["ACER3","ACO2","ACTL6B","ADAR","ADARB1","ADAT3","ADNP","AHCY","AHDC1","AIFM1","AIMP2","AKT3","ALDH6A1","ALDH7A1","ALG12","ALG2","ALG3","ALG8","ALX4","AMPD2","ANKRD11","AP3B2","AP4B1","AP4E1","AP4M1","AP4S1","AP5Z1","APC2","ARFGEF2","ARHGAP31","ARID1B","ARNT2","ARSI","ARX","ASNS","ASPM","ASXL1","ASXL3","ATL1","ATN1","ATP13A2","ATP6AP2","ATP6V1A","ATP9A","BCOR","BICD2","BRAT1","BRF1","BUB1B","C2CD3","CACNA1I","CACNA2D1","CARS1","CARS2","CASK","CCDC174","CCDC88A","CDC42","CDK10","CDK13","CDKL5","CEP120","CEP290","CHMP1A","CIT","CLCN4","CLP1","CNOT1","CNOT3","CNP","CNTNAP1","COASY","COG2","COG4","COG6","COG7","COPB2","COX7B","CRIPT","CRPPA","CSPP1","CTNNA2","CTNNB1","CTU2","CUL4B","CYP2U1","DAG1","DARS1","DARS2","DCHS1","DCX","DDHD2","DDX3X","DDX6","DHCR7","DIAPH1","DMXL2","DOCK7","DPAGT1","DYNC1H1","DYNC1I2","DYRK1A","EARS2","EBP","EFNB1","EHMT1","EIF2AK2","EIF2S3","EMC1","EPRS1","ERLIN2","ERMARD","EXOC2","EXOC7","EXOC8","EXOSC1","EXOSC8","EXTL3","FA2H","FANCB","FANCD2","FAT4","FBXL4","FBXW11","FDFT1","FDXR","FGFR1","FGFR3","FIG4","FKRP","FKTN","FLCN","FLNA","FOXG1","FRA10AC1","FRMPD4","GABRA5","GABRB1","GAD1","GBA1","GBA2","GFER","GFM1","GFM2","GJC2","GLRX5","GLUL","GLYCTK","GMPPB","GNAO1","GOT2","GPSM2","GPT2","GRIA3","GRIA4","GRIN1","GRIN2A","GRM7","GTPBP2","HACE1","HIC1","HIVEP2","HK1","HNRNPK","HNRNPR","HPDL","HS2ST1","HSD17B4","HTRA2","HUWE1","IBA57","IER3IP1","IFIH1","IFT140","IFT27","IFT52","IGF1R","KANSL1","KAT8","KATNB1","KCNA1","KCNK4","KCNQ2","KCNT1","KCNT2","KCTD7","KDM1A","KDM5B","KIAA0586","KIAA0753","KIDINS220","KIF14","KIF26A","KIF2A","KIF5A","KIF5C","KIF7","KIFBP","KMT2C","L1CAM","LAMB1","LARGE1","LMNB1","LNPK","LONP1","LSM11","LSS","MACF1","MAF","MAP1B","MAPK8IP3","MAPKAPK5","MAPRE2","MBTPS2","MED12L","MED25","MEF2C","MFSD2A","MID1","MINPP1","MOCS1","MOCS2","MOGS","MRPS22","MT-CO1","MT-CO2","MT-CO3","MT-ND1","MT-ND4","MT-ND5","MT-ND6","MT-TF","MT-TH","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TW","MTHFS","MTOR","MTRFR","NADK2","NAE1","NALCN","NANS","NARS1","NARS2","NDE1","NDUFA2","NEDD4L","NEUROD2","NEXMIF","NF1","NFIA","NFIX","NHLRC2","NKX6-2","NMNAT1","NONO","NOVA2","NR2F1","NRROS","NT5C2","NUP188","OCA2","OGDHL","OSGEP","OTUD5","OTUD6B","PAFAH1B1","PAH","PARS2","PAX6","PCGF2","PCLO","PCNT","PDE6D","PDHA1","PDHB","PDHX","PGAP1","PGAP2","PHGDH","PIGA","PIGB","PIGG","PIGN","PIGP","PIGQ","PIGU","PIK3R2","PITX1","PLAA","PLPBP","PNKP","POGZ","POLG2","POLR1C","POLR2A","POLR3A","POLR3B","POLR3GL","POMT1","POMT2","POU3F3","PPFIBP1","PPP1R15B","PPP1R21","PPP2CA","PPP2R1A","PRKDC","PRMT7","PRPS1","PRUNE1","PSAP","PSAT1","PTPN23","PUF60","PUS3","PYCR2","QARS1","RAB18","RAB3GAP1","RAB3GAP2","RAC1","RAC3","RAI1","RALGAPA1","RARS1","RB1","RELN","REPS1","RERE","RHOBTB2","RMND1","RNASEH2A","RNASEH2B","RNASEH2C","RNF13","RNU4ATAC","RNU7-1","RORA","RSPRY1","RTTN","RUSC2","SACS","SAMHD1","SCN1B","SCN2A","SCN3A","SEPSECS","SETBP1","SETD2","SH3PXD2B","SHMT2","SHOC2","SIK1","SIN3A","SIX6","SLC1A2","SLC1A4","SLC25A10","SLC25A22","SLC25A24","SLC32A1","SLC35A2","SLC35B2","SLC5A6","SLC6A8","SLC6A9","SMARCE1","SMC1A","SMG9","SNIP1","SON","SOX2","SOX3","SPATA5","SPATA5L1","SPG11","SPG21","SPTAN1","SRPX2","SSR4","STAG2","STAMBP","STXBP1","SVBP","TAF1","TAF2","TARS2","TBC1D20","TBC1D23","TBCD","TBCE","TBCK","TCF4","TECPR2","TGFB1","TMCO1","TMEM106B","TMEM237","TMTC3","TMX2","TOE1","TOGARAM1","TP73","TRAPPC14","TRAPPC6B","TRAPPC9","TREM2","TREX1","TRIM8","TRMT10A","TRRAP","TSEN15","TSEN2","TSEN34","TSEN54","TTI2","TUBA1A","TUBB","TUBB2A","TUBB2B","TUBB3","TUBGCP2","TYROBP","UBA5","UBE3A","UBE3B","UBTF","UGP2","UNC80","USP7","USP9X","VAMP2","VARS1","VARS2","VPS11","VPS50","VPS51","VPS53","VWA3B","WAC","WDR26","WDR45B","WDR62","WDR73","WDR81","WLS","WT1","WWOX","YARS1","YIF1B","YWHAE","YY1","ZBTB20","ZEB2","ZFR","ZFYVE26","ZMIZ1","ZNF148","ZNF462","ZNHIT3","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MIGRAINE_WITHOUT_AURA":{"collection":"C5:HPO","systematicName":"M41251","pmid":"","exactSource":"HP:0002083","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002083","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MIGRAINE_WITHOUT_AURA","geneSymbols":["CACNA1A","CSNK1D","EDNRA","ESR1","KCNK18","TNF","TREX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_OCCIPITAL_ENCEPHALOCELE":{"collection":"C5:HPO","systematicName":"M35631","pmid":"","exactSource":"HP:0002085","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002085","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OCCIPITAL_ENCEPHALOCELE","geneSymbols":["ALX4","ARL13B","B4GAT1","B9D1","B9D2","C2CD3","CC2D2A","CEP290","COL18A1","CSPP1","CYP26B1","FKRP","FKTN","GMPPB","HOXD13","HSPG2","INPP5E","KIAA0586","LAMB1","LARGE1","MKS1","MSX2","PAK2","POMGNT1","POMK","POMT1","POMT2","RPGRIP1L","SF3B2","SMO","TCTN2","TCTN3","TMEM107","TMEM218","TMEM231","TMEM67","TMTC3","TXNDC15"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_UPPER_RESPIRATORY_TRACT":{"collection":"C5:HPO","systematicName":"M35632","pmid":"","exactSource":"HP:0002087","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002087","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_UPPER_RESPIRATORY_TRACT","geneSymbols":["ACP5","ADA","ADA2","ADARB1","ADNP","AFF4","AGA","AHDC1","AICDA","ALG12","ALMS1","ALX1","ALX3","AMER1","ANG","ANO3","ANXA11","APC","ARHGEF1","ARID1A","ARID1B","ARID2","ARSB","ARSL","ARVCF","ASAH1","ASXL3","ATM","ATP6V1E1","ATRX","ATXN2","BLM","BLNK","BRF1","BTD","BTK","C2CD3","C4B","CACNA1C","CAPN15","CARMIL2","CASR","CAT","CCDC103","CCDC39","CCDC40","CCDC65","CCNF","CCNO","CD19","CD4","CD79A","CD79B","CD81","CDKN2A","CEACAM3","CEACAM6","CENPE","CFAP221","CFAP298","CFAP300","CFAP410","CFAP45","CFAP52","CFAP74","CFI","CFTR","CHCHD10","CHD7","CHEK2","CHMP2B","CIITA","CILK1","CLCA4","CLPB","COG4","COL11A1","COL12A1","COL5A1","COL5A2","COMT","CORO1A","CR2","CREBBP","CSPP1","CTC1","CTLA4","CTSK","CXCR4","CYBA","CYBB","CYBC1","DAO","DCLRE1C","DCTN1","DCTN4","DDRGK1","DDX3X","DHCR7","DKC1","DLK1","DNAAF1","DNAAF11","DNAAF2","DNAAF3","DNAAF4","DNAAF5","DNAAF6","DNAH1","DNAH11","DNAH5","DNAH7","DNAH9","DNAI1","DNAI2","DNAJB13","DNAJC21","DNAL1","DNMT3B","DOCK8","DPF2","DPP9","DRC1","DTYMK","DYM","DYNC2H1","DYNC2I1","DYNC2I2","DYNC2LI1","EDN1","EDNRA","EFL1","EGFR","EIF4A3","ELANE","EP300","EPHA4","EPHB4","ERBB4","EXTL3","F12","FANCB","FBXW7","FCGR2A","FCGR3A","FCHO1","FERMT1","FGF10","FGFR2","FGFR3","FIG4","FLNA","FLNB","FMR1","FOXE1","FOXJ1","FOXN1","FOXP1","FRAS1","FREM2","FUCA1","FUS","G6PC3","GABRG2","GALC","GALNS","GAS2L2","GAS8","GCLC","GFI1","GIPC1","GJA1","GLB1","GLE1","GLI3","GLT8D1","GMNN","GNPTAB","GNS","GP1BB","GRIN2A","GRIP1","GSTM3","GUSB","H3-3A","H3-3B","HAAO","HCK","HDAC4","HFE","HGSNAT","HIRA","HLA-B","HLA-DPA1","HLA-DPB1","HLA-DRB1","HMOX1","HNRNPA1","HNRNPR","HOXD13","HPS6","HS3ST6","HSPG2","HYDIN","HYLS1","HYOU1","ICOS","IDH1","IDS","IFIH1","IFT80","IGHG2","IGHM","IGKC","IGLL1","IGSF3","IKBKB","IKBKG","IL10RB","IL17RA","IL21R","IL2RG","IL6R","IL6ST","IL7R","INTU","IRF2BP2","IRF8","IVNS1ABP","JAK3","JMJD1C","KANSL1","KAT6A","KAT6B","KATNIP","KCNJ2","KCNMA1","KCNN4","KDM5C","KIF22","KIF7","KRAS","KRT14","KRT5","LAMA3","LAMB3","LAMC2","LBR","LCK","LEP","LEPR","LIG4","LMNA","LONP1","LRBA","LRP12","LRP4","LRRC56","LRRC8A","LTBP3","LTBP4","MAGT1","MAN2B1","MAP3K7","MATR3","MBTPS2","MCIDAS","MDFIC","MDM2","MDM4","MEG3","MEIS2","MGAT2","MGP","MID1","MIF","MKS1","MLH1","MPDU1","MS4A1","MSH2","MSH6","MST1R","MT-CYB","MYMK","MYMX","MYSM1","NAGLU","NBN","NCF1","NCF2","NCF4","NEFH","NEK1","NEK10","NF1","NFIX","NFKB1","NFKB2","NFKBIA","NHP2","NIN","NLRP1","NLRP12","NME5","NME8","NOP10","NOTCH2","NOTCH2NLC","NPM1","NRCAM","ODAD1","ODAD2","ODAD3","ODAD4","OFD1","OPTN","ORC6","P4HA2","PABPN1","PARN","PCNT","PDE11A","PFN1","PGM3","PHIP","PIK3CD","PIK3R1","PKDCC","PLG","PLP1","PLVAP","PNP","POLE","POLR3A","PON1","PON2","PON3","POR","PORCN","PPARGC1A","PPM1D","PRKAR1A","PRKCD","PRMT7","PRPH","PRPS1","PRRX1","PRTN3","PSAP","PSMB4","PSMB8","PSMB9","PTEN","PTH1R","PTPN22","PUF60","RAC2","RAF1","RAG1","RAG2","RAI1","RALGAPA1","RELB","RFX5","RFX7","RFXANK","RFXAP","RILPL1","RNF168","ROBO1","RPGR","RPL10","RREB1","RSPH1","RSPH3","RSPH4A","RSPH9","RSPO1","RSPO2","RSPRY1","RTEL1","RTL1","RUNX2","SALL4","SASH3","SATB2","SBDS","SCARF2","SCN4A","SCNN1A","SCNN1B","SCNN1G","SEC24C","SEMA3E","SERPINA1","SERPING1","SETBP1","SF3B4","SFRP4","SGSH","SH2D1A","SH3KBP1","SHH","SIAH1","SIX2","SLC11A1","SLC26A2","SLC26A9","SLC29A3","SLC37A4","SLC39A7","SLC6A14","SLC9A3","SMAD2","SMAD4","SMARCA2","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SMCHD1","SNIP1","SOD1","SOX11","SOX4","SOX9","SPAG1","SPEF2","SPI1","SPTBN1","SQSTM1","SRP19","SRP54","SRPX2","STAT1","STAT3","STK11","STK36","STK4","STX1A","STX3","STXBP2","SYT1","TAF1","TAF15","TAFAZZIN","TAP1","TAP2","TAPBP","TARDBP","TBC1D24","TBK1","TBX1","TBX3","TCF3","TCIRG1","TCOF1","TCTN3","TERC","TERT","TGFB1","TINF2","TMCO1","TNFRSF13B","TNFRSF13C","TNFRSF1A","TNFRSF9","TNFSF12","TOM1","TONSL","TP53","TP63","TREM2","TRIM37","TSPYL1","TTC12","TYMS","UBE3B","UBQLN2","UFC1","UFD1","UNC119","UNC13A","UNG","UQCRH","USB1","USP26","USP9X","VAPB","VCP","VPS13B","WAS","WDR35","WIPF1","WNT3","WRAP53","WRN","XIAP","XPNPEP2","ZAP70","ZBTB24","ZBTB7A","ZIC3","ZMYND10","ZNF341","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_LUNG_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M46069","pmid":"","exactSource":"HP:0002088","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002088","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LUNG_MORPHOLOGY","geneSymbols":["AAGAB","AARS1","AARS2","AASS","ABCA12","ABCA3","ABL1","ACADVL","ACE","ACP5","ACTA1","ACTA2","ACTC1","ACTN4","ACVR2B","ACVRL1","ADA","ADA2","ADAMTS19","ADAMTS2","ADAMTS3","ADGRG6","ADNP","AFF4","AGA","AGGF1","AGR2","AGRN","AGT","AGTR1","AICDA","AK2","AKT1","ALB","ALDH18A1","ALDH1A2","ALG12","ALG14","ALG3","ALG9","ALMS1","ALOX12B","ALOXE3","ALPL","ANKFY1","ANLN","AP3B1","AP3D1","APC2","APOL1","ARHGAP24","ARHGAP31","ARHGDIA","ARHGEF1","ARID1A","ARID1B","ARID2","ARPC1B","ARSB","ARSL","ARVCF","ASAH1","ASCC1","ASPRV1","ASXL1","ATM","ATP11A","ATP5F1A","ATP6V0A1","ATP6V0A2","ATP6V1A","ATP6V1B2","ATP6V1E1","B2M","B3GALT6","B3GLCT","BACH2","BAP1","BAZ1B","BCL10","BCL11B","BCL2","BCL6","BCL7B","BCOR","BCR","BGN","BIRC3","BLM","BLNK","BLTP1","BMP15","BMP2","BMPER","BMPR2","BNC1","BRAF","BRCA2","BTK","BTNL2","BUB1","BUB1B","BUB3","BUD23","C1QB","C3","C4A","C4B","CACNA1B","CACNA1C","CALCRL","CARD10","CARD11","CARMIL2","CARS1","CASP10","CASP8","CAV1","CAVIN1","CBL","CC2D2A","CCBE1","CCDC103","CCDC22","CCDC39","CCDC40","CCDC65","CCN2","CCND1","CCNO","CCNQ","CCR1","CCR6","CD19","CD247","CD27","CD28","CD2AP","CD3D","CD3E","CD3G","CD4","CD40LG","CD46","CD55","CD79A","CD79B","CD81","CD8A","CDC42","CDC45","CDCA7","CDKN2A","CDON","CDT1","CEACAM3","CEACAM6","CEP120","CEP55","CEP57","CFAP221","CFAP298","CFAP300","CFAP410","CFAP53","CFAP74","CFB","CFH","CFI","CFTR","CHAMP1","CHAT","CHD7","CHEK2","CHRM3","CHRNA1","CHRND","CHRNG","CHST14","CHUK","CIITA","CIROP","CITED2","CLCA4","CLCN7","CLEC7A","CLIP2","CLPB","CNTN1","COG4","COG6","COL11A2","COL13A1","COL14A1","COL2A1","COL3A1","COL4A3","COL4A5","COL4A6","COL5A1","COL5A2","COL6A1","COL6A2","COL6A3","COLQ","COMT","COPA","COQ7","COQ8B","CORO1A","CPLX1","CR2","CRB2","CREBBP","CRELD1","CRKL","CRLF1","CRTAP","CSF2RA","CSF2RB","CSPP1","CTBP1","CTC1","CTCF","CTLA4","CTNNA2","CTNNB1","CTNNBL1","CTPS1","CTRC","CTSC","CUX1","CXCR4","CYBA","CYBB","CYBC1","CYP27A1","CYP2A6","CYP4F22","DAAM2","DCLRE1C","DCTN4","DDR2","DDX59","DEF6","DGCR2","DGCR6","DGCR8","DHCR24","DHCR7","DICER1","DIP2B","DIS3L2","DISP1","DKC1","DLK1","DLL1","DLL3","DLL4","DNAAF1","DNAAF11","DNAAF2","DNAAF3","DNAAF4","DNAAF5","DNAAF6","DNAH1","DNAH11","DNAH5","DNAH7","DNAH9","DNAI1","DNAI2","DNAJB13","DNAJB4","DNAJC21","DNAJC30","DNAL1","DNASE1","DNASE1L3","DNMT3B","DOCK2","DOCK6","DOCK8","DOK7","DONSON","DPAGT1","DPF2","DPM2","DPP9","DPYSL5","DRC1","DSE","DSG1","DSP","DVL3","DYM","DYNC2H1","DYNC2I1","DYNC2I2","DYNC2LI1","DZIP1L","EBP","ECM1","EDA","EDARADD","EDNRA","EDNRB","EFEMP2","EFL1","EGFR","EHHADH","EHMT1","EIF2AK4","EIF4H","ELANE","ELF4","ELN","ELP1","EMG1","EMP2","ENG","EOGT","EP300","EPG5","EPHB4","EPM2A","ERAP1","ERBB2","ERCC2","ERCC3","ERCC6","ERF","ESS2","ETFA","ETFB","ETFDH","EVC","EVC2","EWSR1","EXOSC9","EXT1","EXT2","EXTL3","FADD","FAM111B","FAM13A","FAM20C","FANCB","FANCF","FARSA","FARSB","FAS","FASLG","FAT4","FBLN5","FBN1","FBXO28","FBXW7","FCGR2A","FCGR2B","FCGR3A","FCGR3B","FCHO1","FCN3","FCSK","FGF20","FGF8","FGFR1","FGFR3","FIG4","FIP1L1","FKBP6","FLCN","FLI1","FLNA","FLNB","FLNC","FLT4","FMO3","FOCAD","FOXC2","FOXE3","FOXF1","FOXH1","FOXJ1","FOXN1","FOXP1","FOXP2","FOXP3","FRA10AC1","FRAS1","FREM2","FSHR","FUCA1","FUT8","FUZ","G6PC3","GAA","GALNS","GAPVD1","GAS1","GAS2L2","GAS8","GATA1","GATA2","GATA4","GATA6","GATM","GBA1","GCLC","GDF1","GEMIN4","GFI1","GFM2","GFRA1","GIPC1","GLA","GLB1","GLDN","GLE1","GLI1","GLI2","GLI3","GLUL","GMNN","GNPTAB","GNS","GORAB","GP1BB","GPC3","GPC4","GPC6","GPKOW","GPR35","GREB1L","GRHL3","GRIA1","GRIP1","GSN","GSTM3","GTF2E2","GTF2H5","GTF2I","GTF2IRD1","GTF2IRD2","GUF1","GUSB","H19","H4C3","H4C5","HACD1","HCK","HELLPAR","HELLS","HERC2","HES7","HEY2","HFE","HGSNAT","HIRA","HK1","HLA-B","HLA-DPA1","HLA-DPB1","HLA-DQA1","HLA-DQB1","HLA-DRB1","HMOX1","HOXD13","HPGD","HPS1","HPS4","HPS6","HRAS","HSPG2","HYDIN","HYLS1","HYOU1","ICOS","IDH1","IDS","IDUA","IER3IP1","IFIH1","IFNG","IFNGR1","IFT122","IFT140","IFT172","IFT43","IFT80","IFT81","IGBP1","IGHG2","IGHM","IGKC","IGLL1","IKBKB","IKBKG","IKZF1","IL10","IL10RB","IL12A","IL12A-AS1","IL12RB1","IL17F","IL17RA","IL17RC","IL1RN","IL21","IL21R","IL23R","IL2RA","IL2RB","IL2RG","IL6","IL6R","IL6ST","IL7R","INF2","INPPL1","INTU","INVS","IPO8","IRAK1","IRAK4","IRF1","IRF2BP2","IRF4","IRF5","IRF8","ITCH","ITGA3","ITGA7","ITGA8","ITK","ITPR1","IVNS1ABP","JAG1","JAGN1","JAK3","JMJD1C","KANSL1","KAT6A","KAT6B","KATNIP","KCNJ6","KCNN4","KDM5C","KDM6A","KEAP1","KIAA0319L","KIAA0586","KIAA0753","KIF11","KIF1A","KIF20A","KIF21A","KITLG","KLHL40","KLHL41","KLRC4","KMT2D","KNSTRN","KPTN","KRAS","KRT5","LACC1","LAMA2","LAMA3","LAMB2","LAMB3","LAMC2","LAMTOR2","LAT","LBR","LCK","LEP","LEPR","LETM1","LFNG","LGI4","LIFR","LIG1","LIG4","LIMK1","LIPN","LMNA","LMNB1","LMOD3","LONP1","LOX","LRBA","LRIF1","LRP12","LRPPRC","LRRC56","LRRC8A","LTBP1","LTBP3","LTBP4","LYST","LZTR1","MAGEL2","MAGI2","MAGT1","MALT1","MAN2B1","MANBA","MAP2K1","MAP3K20","MAP3K8","MAPK1","MARS1","MARS2","MASP2","MAT2A","MBTPS2","MCIDAS","MCM4","MCTP2","MDFIC","MDM2","MDM4","MECP2","MED12","MED25","MEFV","MEG3","MEGF10","MEIS2","MESP2","METTL27","MFAP5","MGAT2","MGP","MID1","MIF","MIR140","MITF","MKKS","MKRN3","MKS1","MLXIPL","MMP21","MOGS","MPLKIP","MRAS","MRPS22","MS4A1","MSH4","MSN","MST1","MT-CYB","MTHFD1","MTM1","MTO1","MUC5B","MUSK","MYBPC3","MYD88","MYH11","MYH3","MYH6","MYH7","MYL2","MYL9","MYLK","MYO1E","MYO1H","MYO5A","MYO9A","MYOD1","MYPN","MYRF","MYSM1","NAA10","NAB2","NABP1","NADK2","NAE1","NAF1","NAGLU","NBN","NCF1","NCF2","NCF4","NDN","NDUFA6","NDUFAF6","NDUFB10","NDUFC2","NEB","NECTIN1","NEK1","NEK10","NEK8","NEK9","NELFA","NEPRO","NEU1","NF1","NFASC","NFE2L2","NFIX","NFKB1","NFKB2","NFKBIA","NGLY1","NHLRC1","NHLRC2","NHP2","NIPA1","NIPA2","NIPAL4","NIPBL","NKX2-1","NKX2-5","NKX2-6","NLRC4","NME5","NME8","NOD2","NODAL","NOP10","NOS1","NOTCH1","NOTCH2","NOTCH2NLC","NOTCH3","NPAP1","NPC2","NPHP3","NPHS1","NPHS2","NPM1","NR1H4","NR5A1","NRAS","NSD1","NSD2","NSDHL","NSMCE3","NTRK1","NUMA1","NUP107","NUP133","NUP160","NUP205","NUP214","NUP37","NUP85","NUP88","NUP93","NXN","OAS1","OCA2","OCRL","ODAD1","ODAD2","ODAD3","ODAD4","OFD1","ORC1","ORC6","OSTM1","OTUD5","P4HA2","P4HTM","PAFAH1B1","PAK2","PANK2","PARN","PAX2","PAX6","PCGF2","PCNT","PDGFRB","PDHA1","PEPD","PERP","PET117","PEX1","PEX13","PEX5","PGM3","PHGDH","PHIP","PI4KA","PIEZO1","PIEZO2","PIGA","PIGG","PIGL","PIGN","PIGO","PIGT","PIK3CA","PIK3CD","PIK3CG","PIK3R1","PKD1L1","PKHD1","PKP1","PLA2G6","PLCE1","PLCG2","PLCH1","PLD1","PLEC","PLG","PLOD1","PLP1","PLVAP","PLXND1","PML","PMM2","PNP","POLA1","POLE","POLR2A","POLR3A","POLR3H","PORCN","POT1","POU6F2","PPP1CB","PPP1R21","PPP2R1B","PRG4","PRKACA","PRKACB","PRKAG2","PRKAR1A","PRKCD","PRKDC","PRKG1","PRKN","PRPS1","PRRX1","PRSS1","PRSS2","PRTN3","PSAP","PSMB8","PSMC3IP","PTCD3","PTCH1","PTEN","PTH1R","PTPN11","PTPN22","PTPRO","PUF60","PURA","PWAR1","PWRN1","PYROXD1","RAB3GAP2","RAC1","RAC2","RAF1","RAG1","RAG2","RANBP2","RAPSN","RARA","RARB","RASA1","RASA2","RASGRP1","RB1","RBM10","RBPJ","RCBTB1","REEP1","REL","RELA","RELB","REN","REST","RET","RFC2","RFT1","RFX5","RFX7","RFXANK","RFXAP","RHOH","RILPL1","RIPK1","RIPPLY2","RIT1","RLIM","RMRP","RNF113A","RNF125","RNF168","RNU4ATAC","ROR2","RPA1","RPGR","RPL10","RPS15A","RRAS","RRAS2","RREB1","RSPH1","RSPH3","RSPH4A","RSPH9","RSPO2","RTEL1","RTL1","RUNX2","RYR1","SAMD9","SAMD9L","SASH3","SAT1","SATB1","SBDS","SCARB2","SCN10A","SCN11A","SCN4A","SCN9A","SCNN1A","SCNN1B","SCNN1G","SDCCAG8","SDHD","SDR9C7","SEC24C","SELENON","SEMA4D","SERPINA1","SERPINF2","SERPINH1","SETBP1","SETD2","SF3B2","SFTPA1","SFTPA2","SFTPB","SFTPC","SGCG","SGSH","SH2D1A","SH3KBP1","SHH","SHROOM4","SIAH1","SIK1","SIM1","SIX3","SKIC2","SKIC3","SLC11A1","SLC12A6","SLC18A3","SLC1A4","SLC22A18","SLC25A1","SLC25A22","SLC25A24","SLC26A2","SLC26A9","SLC29A3","SLC2A10","SLC31A1","SLC34A1","SLC34A2","SLC35A1","SLC35C1","SLC37A4","SLC39A7","SLC41A1","SLC46A1","SLC52A3","SLC5A7","SLC6A14","SLC7A7","SLC9A3","SLCO2A1","SMAD2","SMAD3","SMAD4","SMARCA2","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCD2","SMARCE1","SMC1A","SMG8","SMN1","SMO","SMPD1","SNAI2","SNAP25","SNAP29","SNORD115-1","SNORD116-1","SNRPN","SNX10","SOCS1","SON","SOS1","SOS2","SOX10","SOX11","SOX18","SOX4","SOX9","SP110","SPAG1","SPECC1L","SPEF2","SPI1","SPIDR","SPINK1","SPINK5","SPP1","SPRED1","SPRED2","SPTBN4","SREBF1","SRP19","SRP54","STAG2","STAT1","STAT3","STAT4","STAT5B","STAT6","STIL","STING1","STK11","STK36","STK4","STN1","STRA6","STX1A","STX3","STXBP2","SUCLG1","SULT2B1","SYK","SYT2","TAF1","TAFAZZIN","TAOK1","TAP1","TAP2","TAPBP","TAPT1","TARS1","TASP1","TBC1D23","TBC1D24","TBC1D8B","TBCD","TBCE","TBL1XR1","TBL2","TBX1","TBX20","TBX5","TBX6","TCEAL1","TCF3","TCF4","TCIRG1","TCTN3","TDGF1","TECPR2","TERC","TERT","TET2","TFG","TFRC","TGFB1","TGFB2","TGFB3","TGFBR1","TGFBR2","TGIF1","TGM1","THOC2","THSD4","TIMM8A","TIMMDC1","TINF2","TK2","TLL1","TLR4","TMCO1","TMEM260","TMEM270","TMEM94","TNFRSF11A","TNFRSF13B","TNFRSF13C","TNFRSF1A","TNFRSF1B","TNFRSF9","TNFSF11","TNFSF12","TNNI3","TNNT2","TOM1","TONSL","TP53","TP73","TPM2","TPM3","TPP2","TRAC","TRAF3IP1","TRAF3IP2","TRAF7","TRAIP","TREX1","TRIM28","TRIM37","TRIP11","TRIP13","TRIP4","TRPC6","TRPS1","TRPV3","TRPV4","TSC1","TSC2","TTC12","TTC21B","TTC26","TTC7A","TTR","TUBA1A","TUBG1","TXNDC15","TYK2","TYMS","TYR","UBA2","UBAC2","UBB","UBE2A","UFC1","UFD1","UGP2","UMPS","UNC119","UNG","UQCRH","USB1","USP18","USP26","USP9X","VAMP1","VANGL1","VARS1","VHL","VPS33A","VPS35L","VPS37D","VPS51","WAC","WARS2","WAS","WASHC5","WDR1","WDR19","WDR35","WIPF1","WNT3","WNT4","WNT7B","WNT9B","WRAP53","WRN","WT1","XIAP","YARS1","ZAP70","ZBTB16","ZBTB24","ZBTB7A","ZCCHC8","ZEB2","ZFPM2","ZFTA","ZIC2","ZIC3","ZMPSTE24","ZMYND10","ZNF341","ZNF668","ZNF699","ZNFX1","ZNHIT3","ZNRF3","ZSWIM7"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PULMONARY_HYPOPLASIA":{"collection":"C5:HPO","systematicName":"M43268","pmid":"","exactSource":"HP:0002089","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002089","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PULMONARY_HYPOPLASIA","geneSymbols":["AARS2","ACE","ACTA1","ADGRG6","AGT","AGTR1","ALDH1A2","ALG3","ALG9","ASCC1","ATP5F1A","B3GALT6","BCOR","BMPER","CC2D2A","CDC45","CEP120","CEP55","CHRNA1","CHRND","CHRNG","COL2A1","COQ7","CSPP1","CTNNA2","DHCR7","DLK1","DOK7","DONSON","DPAGT1","DYNC2H1","DYNC2I1","DYNC2I2","DZIP1L","ETFA","ETFB","ETFDH","FAM20C","FANCB","FGF20","FGFR3","FLNA","FLNB","FRAS1","FREM2","FUZ","GATA6","GBA1","GFRA1","GLDN","GLE1","GREB1L","GRIP1","HSPG2","IFT80","IFT81","INTU","INVS","ITGA8","KAT6B","KIAA0586","KIF21A","KLHL40","KLHL41","LBR","LGI4","LIFR","LMNA","LMOD3","LONP1","LTBP4","MCTP2","MEG3","MKKS","MKS1","MUSK","MYH11","MYH3","MYOD1","MYRF","NAA10","NDUFB10","NEB","NEK1","NEK8","NEK9","NKX2-6","NPHP3","NSDHL","NUP88","PEX1","PHGDH","PI4KA","PIEZO2","PIGN","PKHD1","PLXND1","PRRX1","PTH1R","RAPSN","RARB","RBM10","REN","RET","RLIM","RTL1","RYR1","SCN4A","SETBP1","SF3B2","SLC18A3","SLC25A24","SLC26A2","SLC31A1","SMO","SPECC1L","STRA6","TAPT1","TCTN3","TMEM94","TRIP11","TRIP4","TUBA1A","TXNDC15","VANGL1","WDR35","WNT3","WNT4","WNT7B","WNT9B","WT1","ZFPM2","ZIC3","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PNEUMONIA":{"collection":"C5:HPO","systematicName":"M35633","pmid":"","exactSource":"HP:0002090","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002090","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PNEUMONIA","geneSymbols":["AASS","ABCA3","ACADVL","ACP5","ACTA1","ACTC1","ADA","AFF4","ALG12","ALMS1","AP3B1","ARID1A","ARID1B","ARID2","ARPC1B","ARSB","ASAH1","ATP6V0A1","ATP6V1B2","B3GALT6","BLM","BLNK","BTK","C3","C4B","CACNA1C","CARD11","CARMIL2","CASP8","CAVIN1","CCDC39","CCDC40","CD19","CD247","CD27","CD3D","CD3E","CD79B","CD81","CDON","CFAP410","CFB","CFTR","CHD7","CITED2","CLPB","COL11A2","COL4A5","COL4A6","CR2","CREBBP","CRLF1","CSF2RA","CSF2RB","CSPP1","CTLA4","CXCR4","CYBA","CYBB","CYBC1","DCLRE1C","DDR2","DISP1","DLL1","DNAAF4","DNAH11","DNAI1","DNAI2","DNAJC21","DNMT3B","DOCK2","DOCK8","DPF2","DRC1","DZIP1L","EFEMP2","EFL1","EGFR","ELANE","EP300","EPM2A","ERCC6","EXTL3","FANCF","FBLN5","FBXW7","FCGR2A","FCGR3B","FCHO1","FGF8","FGFR1","FIG4","FMO3","FOCAD","FOXH1","FOXN1","FOXP3","GALNS","GAS1","GAS8","GATA4","GATA6","GBA1","GFI1","GIPC1","GLB1","GLI2","GNPTAB","GRHL3","HACD1","HLA-DQA1","HLA-DQB1","HYDIN","ICOS","IDH1","IDS","IFIH1","IFNGR1","IGBP1","IGHG2","IGHM","IGKC","IGLL1","IL12RB1","IL17RA","IL21R","IL2RG","IL6ST","IL7R","IRF2BP2","IRF8","ITGA7","JAK3","KAT6A","KCNJ6","KDM6A","KIAA0586","KMT2D","KNSTRN","KPTN","LAMA3","LAMB3","LAMC2","LAT","LEP","LIG4","LMNB1","LONP1","LRBA","LRIF1","LRP12","LTBP1","LTBP3","LTBP4","MAN2B1","MAP3K20","MARS2","MASP2","MCIDAS","MED25","MEGF10","MID1","MS4A1","MTHFD1","MTM1","MYH6","MYL2","MYO1H","NADK2","NBN","NCF1","NCF2","NDUFA6","NFIX","NFKB1","NFKB2","NHLRC1","NIPBL","NKX2-1","NKX2-5","NME5","NODAL","NOS1","NOTCH2NLC","NTRK1","ODAD1","ODAD2","ODAD4","ORC6","OSTM1","P4HTM","PAFAH1B1","PANK2","PDHA1","PEPD","PGM3","PIGA","PIGN","PIK3CD","PIK3R1","PKHD1","PKP1","PLA2G6","PLCH1","PLOD1","PMM2","PNP","POLA1","POLR3A","PRKCD","PTCD3","PTCH1","PTEN","PURA","RAC1","RAC2","RAG1","RAG2","RANBP2","REL","RELB","RFX7","RILPL1","RMRP","RNF125","RNF168","RNU4ATAC","RYR1","SAMD9","SBDS","SCNN1A","SCNN1B","SCNN1G","SDHD","SELENON","SERPINH1","SETBP1","SFTPB","SFTPC","SGCG","SHH","SIAH1","SIX3","SLC25A24","SLC35A1","SLC35C1","SMARCA2","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCD2","SMARCE1","SMC1A","SNAP29","SOX11","SOX4","SP110","SREBF1","SRP19","SRP54","STAG2","STAT3","STIL","STK36","STK4","SYK","TAF1","TBC1D24","TBCD","TBX1","TBX20","TCF3","TCIRG1","TDGF1","TFG","TGFB1","TGIF1","TIMM8A","TK2","TLL1","TNFRSF11A","TNFRSF13B","TNFRSF13C","TNFSF12","TONSL","TPM2","TPM3","TREX1","UBB","UNC119","USB1","USP26","VPS33A","WAS","WDR1","WDR19","WDR35","ZAP70","ZBTB24","ZBTB7A","ZIC2","ZNF341","ZNF699","ZNFX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RESTRICTIVE_VENTILATORY_DEFECT":{"collection":"C5:HPO","systematicName":"M35634","pmid":"","exactSource":"HP:0002091","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002091","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RESTRICTIVE_VENTILATORY_DEFECT","geneSymbols":["ACP5","AGRN","AK9","ALMS1","ARSB","B3GALT6","BAG3","BICD2","BTNL2","CD19","CD81","CFAP410","CHCHD10","CHRNA1","CHRNB1","CHRND","CHRNE","COL13A1","COL2A1","COPA","CR2","CSF2RA","CSF2RB","CTLA4","DDR2","DKC1","DLK1","DMD","DNAH11","DNASE1L3","DOK7","ENG","FAM111B","FARSA","FGFR3","FKRP","FLNB","FRG1","GALNS","GDAP1","GIPC1","GLB1","GNPTAB","HCK","HES7","HLA-B","HLA-DPA1","HLA-DPB1","HLA-DRB1","HPS1","HPS4","ICOS","IDS","IKZF1","IRF2BP2","LRP12","LRP4","MEG3","MEGF10","MESP2","MS4A1","MT-TL1","MT-TL2","MT-TN","MT-TS1","MUSK","MYH7","MYO1H","NAA10","NFKB1","NFKB2","NKX2-1","NLRP3","NOTCH2NLC","PIEZO2","PLOD1","POGLUT1","PRKCD","PRTN3","PTPN22","PUS1","PYROXD1","RAPSN","RILPL1","RNF168","RNU4ATAC","RPA1","RTL1","SCN4A","SELENON","SFTPA1","SGCG","SLC12A6","SLC34A2","STAC3","SYNE1","TNFRSF13B","TNFRSF13C","TNFSF12","TOR1A","TRAPPC11","TSC1","TSC2","TTN","WDR19"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PULMONARY_ARTERIAL_HYPERTENSION":{"collection":"C5:HPO","systematicName":"M47057","pmid":"","exactSource":"HP:0002092","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002092","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PULMONARY_ARTERIAL_HYPERTENSION","geneSymbols":["ABCC6","ABCD4","ACTA2","ACTC1","ACVRL1","AFF4","AGK","AGR2","ALDH1A2","ALMS1","ARHGAP31","ARSB","ATP13A3","ATP5F1A","BANF1","BMPR2","BTNL2","CA2","CACNA1C","CACNA1D","CAV1","CCN2","CCR6","CHST3","CITED2","CLCN7","COG1","COL1A1","COL1A2","COLQ","COX5A","COX6B1","COX7B","COX8A","CTCF","DEF6","DLK1","DLL4","DOCK6","EIF2AK4","ENG","ENPP1","EOGT","FBN1","FGFR1","FGFR3","FIG4","FLNA","FOXF1","FOXP1","G6PC3","GATA4","GATA6","GBA1","GDF2","HBB","HLA-B","HLA-DRB1","HSPG2","IDUA","IKBKG","IL12B","IL6ST","IPO8","IRF5","JAK2","KCNK3","KIAA0319L","KMT2D","KRAS","KRT18","LAMA2","LAMB2","LARS2","LIFR","LIPT1","LMNA","MED12","MED25","MEG3","MGP","MLX","MMACHC","MPL","MT-CO1","MT-CO2","MT-CO3","MT-ND1","MT-ND4","MT-ND5","MT-ND6","MT-TF","MT-TH","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TW","MUC5B","MYBPC3","MYH6","MYH7","MYMK","NAA10","NDUFA8","NDUFB10","NF1","NFIX","NFU1","NKX2-1","NKX2-5","NOD2","NOTCH1","ODAD1","PAM16","PDSS1","PGM1","PIGN","PPCS","PRIM1","RBPJ","RPL3L","RTL1","SARS2","SCARB2","SFTPA2","SFTPB","SFTPC","SLC25A24","SLC29A3","SLC37A4","SMAD4","SMAD9","SMARCAL1","SNX10","STAT1","TBX20","TBX4","TCIRG1","TERT","THPO","THSD1","TLL1","TNFSF11","TOM1","TRRAP","TTC26","UBE2A","VAC14","VCL","VHL","VPS33A","ZMPSTE24","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RESPIRATORY_INSUFFICIENCY":{"collection":"C5:HPO","systematicName":"M35636","pmid":"","exactSource":"HP:0002093","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002093","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RESPIRATORY_INSUFFICIENCY","geneSymbols":["AAAS","ABCA12","ABCA3","ABCB11","ABCB4","ACADVL","ACE","ACOX1","ACTA1","ACTN2","ACVR1","ADAMTS3","ADGRG6","ADPRS","AFF3","AGGF1","AGK","AGRN","AGT","AGTPBP1","AGTR1","AHCY","AHDC1","AIFM1","AK9","ALAD","ALDH1A2","ALDH7A1","ALG1","ALG14","AMT","ANG","ANXA11","ARSL","ASAH1","ASCC1","ASNS","ASXL1","ATAD1","ATP8B1","ATXN1","ATXN2","B3GALT6","BAG3","BCHE","BDNF","BICD2","BIN1","BLM","BMPER","BOLA3","BSCL2","CANT1","CCBE1","CCDC103","CCDC174","CCDC39","CCDC40","CCDC65","CCNF","CCNO","CDC45","CDC6","CDT1","CEP120","CFAP221","CFAP298","CFAP300","CFAP410","CFAP74","CFL2","CHAT","CHCHD10","CHD7","CHMP2B","CHRNA1","CHRNB1","CHRND","CHRNE","CHRNG","CISD2","CLCF1","CLCN6","CLPB","CNTN1","CNTNAP1","COA8","COG7","COL11A1","COL11A2","COL12A1","COL13A1","COL1A1","COL1A2","COL25A1","COL2A1","COL3A1","COL6A1","COL6A2","COL6A3","COLQ","COQ4","COQ9","COX14","COX6A2","COX7B","CPOX","CPS1","CPT2","CRLF1","CRYAB","CSF2RA","CSF2RB","CSGALNACT1","CSPP1","CTLA4","CTSD","CUL7","CYP27A1","DAG1","DAO","DCTN1","DDC","DDX3X","DES","DLK1","DLL3","DMD","DMPK","DNAAF1","DNAAF11","DNAAF2","DNAAF3","DNAAF4","DNAAF5","DNAAF6","DNAH1","DNAH11","DNAH5","DNAH9","DNAI1","DNAI2","DNAJB13","DNAJB4","DNAJC21","DNAL1","DNM1L","DNM2","DOK7","DPAGT1","DPM2","DPYD","DRC1","DSP","DST","DTYMK","DYM","DYNC2H1","DYNC2I1","DYNC2I2","DYNC2LI1","DYSF","DZIP1L","ECHS1","EDN3","EFEMP2","EGR2","EMD","ENPP1","EPHA4","ERBB3","ERBB4","ERF","ERGIC1","EXOSC3","EXOSC8","EXOSC9","FAM20C","FARSB","FAT4","FBLN5","FBN1","FCSK","FGFR1","FGFR2","FGFR3","FHL1","FIG4","FKBP10","FKRP","FKTN","FLAD1","FLNA","FLNB","FLNC","FOXF1","FOXI1","FOXJ1","FOXRED1","FREM2","FUS","G6PC3","GAA","GALC","GALK1","GARS1","GAS2L2","GAS8","GATA2","GDNF","GET3","GFPT1","GFRA1","GGPS1","GIPC1","GLA","GLE1","GLI3","GLS","GLT8D1","GLUL","GLYCTK","GMNN","GMPPA","GMPPB","GNB2","GNPTAB","GOSR2","GPC3","GPC4","GPX4","GRM7","GSC","GTPBP3","HACD1","HADHA","HADHB","HCCS","HCK","HES7","HIBCH","HLA-B","HLA-DPA1","HLA-DPB1","HMBS","HNRNPA1","HPDL","HRAS","HSD3B2","HSPG2","HTRA2","HYDIN","HYMAI","IBA57","IFIH1","IFNG","IFT140","IFT172","IFT80","IFT81","IGHMBP2","INPP5K","INPPL1","INVS","IRF4","ITGA3","ITGA7","JAK2","JUP","KARS1","KAT6A","KBTBD13","KCNJ10","KCNJ6","KIAA0753","KIF21A","KIF22","KIT","KLHL40","KLHL41","KNSTRN","LAMA2","LAMA3","LAMB2","LAMB3","LAMC2","LAMP2","LARGE1","LARS2","LBR","LBX1","LFNG","LIAS","LIFR","LIG4","LIPT2","LMNA","LMOD3","LONP1","LRP12","LRP4","LRP5","LRPPRC","LRRC56","LTBP1","LTBP3","LTBP4","LYRM7","MADD","MAMLD1","MAP3K20","MARS1","MATR3","MB","MCCC1","MCCC2","MCIDAS","MCM4","MDFIC","MECP2","MED11","MED12","MEG3","MEGF10","MESP2","MFN2","MGME1","MICOS13","MLYCD","MORC2","MPL","MPZ","MRPS14","MT-ND1","MT-ND2","MT-ND3","MT-TE","MT-TL1","MT-TL2","MT-TN","MT-TS1","MT-TT","MTFMT","MTM1","MTMR14","MTTP","MUSK","MYBPC1","MYD88","MYF6","MYH11","MYH3","MYH7","MYL1","MYL2","MYMK","MYO1H","MYO9A","MYOD1","MYOT","MYPN","NALCN","NAXE","NBN","NDUFA1","NDUFA10","NDUFA11","NDUFA6","NDUFA9","NDUFAF1","NDUFAF2","NDUFAF3","NDUFAF4","NDUFAF5","NDUFAF8","NDUFB10","NDUFB11","NDUFB3","NDUFB8","NDUFB9","NDUFS1","NDUFS2","NDUFS3","NDUFS4","NDUFS6","NDUFS7","NDUFS8","NDUFV1","NDUFV2","NEB","NEFH","NEK1","NEK10","NFASC","NFS1","NFU1","NHLRC2","NKX2-1","NME5","NME8","NOTCH2NLC","NPC2","NPHS1","NR1H4","NSF","NSUN2","NUBPL","NUP188","NUP214","NUP88","NUTM2B-AS1","OAS1","OCRL","ODAD1","ODAD2","ODAD3","ODAD4","OFD1","OPTN","ORAI1","ORC1","ORC4","ORC6","OSTM1","PAX2","PAX7","PBX1","PDHA1","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PEX7","PFN1","PHOX2B","PHYH","PIEZO2","PIGA","PIK3CD","PIP5K1C","PKHD1","PLAA","PLAGL1","PLCB3","PLEC","PLEKHG5","PLOD1","PLOD2","PLP1","PLPBP","PMP22","POGLUT1","POLG","POLG2","POLR1B","POLR1C","POLR1D","POMK","POMT1","POMT2","PON1","PON2","PON3","PPARGC1A","PRDM13","PRIM1","PRKCSH","PRPH","PRPS1","PRTN3","PRUNE1","PSAP","PTCD3","PTPN22","PURA","RALGAPA1","RAPSN","REN","RFT1","RILPL1","RIPPLY2","RMND1","RMRP","RNASEH1","RNASEH2A","RNF168","RNU4ATAC","RPGR","RRM2B","RSPH1","RSPH3","RSPH4A","RSPH9","RTL1","RUNX2","RYR1","SARS2","SBDS","SBF2","SCN4A","SCYL2","SEC63","SELENON","SEMA3E","SEPTIN9","SF3B4","SFTPB","SFTPC","SH3TC2","SHPK","SLC18A3","SLC19A3","SLC25A1","SLC25A20","SLC25A24","SLC25A26","SLC25A3","SLC25A4","SLC25A46","SLC26A2","SLC26A4","SLC27A4","SLC2A10","SLC30A9","SLC34A2","SLC52A2","SLC52A3","SLC5A7","SLC6A5","SLC6A9","SLC7A7","SMAD4","SMN1","SMPD1","SMPD4","SMPX","SNAP25","SNRPB","SOD1","SON","SOX9","SPAG1","SPEF2","SPEG","SPG11","SPOP","SPTLC1","SQSTM1","SRP54","STAC3","STAT2","STIM1","STK36","STRA6","SUCLA2","SUCLG1","SURF1","SYNE1","SYNE2","SYT2","TAF15","TARDBP","TBCD","TBCK","TBK1","TCOF1","TET2","TFG","TICAM1","TIMMDC1","TK2","TLR3","TMEM126B","TMEM231","TMEM43","TMEM70","TNNT1","TNPO3","TOR1A","TPI1","TPM2","TPM3","TRAF3","TRAF7","TRAPPC11","TREM2","TRIM2","TRIP4","TRMU","TRPV4","TSC1","TSC2","TSEN54","TSFM","TSPYL1","TTC12","TTC21B","TTN","TUBA1A","TUFM","TWNK","TXNDC15","UBA1","UBE3B","UBQLN2","UFM1","UNC13A","UNC93B1","USP18","VAMP1","VAPB","VARS2","VCP","VMA21","VRK1","WDR19","WDR35","WFS1","WT1","XYLT1","YARS2","ZC4H2","ZMYND10","ZNF148"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DYSPNEA":{"collection":"C5:HPO","systematicName":"M35637","pmid":"","exactSource":"HP:0002094","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002094","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DYSPNEA","geneSymbols":["ABCA3","ABCC6","ABCC9","ABCG5","ABCG8","ACADM","ACADS","ACADVL","ACTA1","ACTA2","ACTC1","ACVRL1","ADAMTS13","ADCY6","ADNP","AGR2","AGRN","AIFM1","AK9","ALAS2","ALG12","ALMS1","ANG","ANXA11","APOB","ARX","ASAH1","ATP11A","ATP13A3","ATP1A2","ATP1A3","ATP5F1A","ATP5F1D","ATP5F1E","ATP5MK","ATP6V1B2","ATPAF1","ATPAF2","ATRX","ATXN2","B3GALT6","BANF1","BAP1","BCOR","BMPER","BMPR2","BOLA3","BTD","BTNL2","CACNA1A","CASR","CAV1","CCN2","CCNF","CCR6","CDC45","CDC6","CDT1","CFAP410","CFTR","CHAT","CHCHD10","CHMP2B","CHRNA1","CHRNB1","CHRND","CHRNE","CITED2","CLCNKB","CLPB","CNTNAP1","COA8","COL13A1","COL1A2","COL25A1","COL2A1","COL4A5","COL4A6","COLQ","COPA","COQ7","COX7B","CREBBP","CRLF1","CRYAB","CSF2RA","CSF2RB","CSPP1","CYB5A","CYB5R3","DAO","DBH","DCTN1","DHX16","DISC1","DMPK","DNA2","DNAAF3","DNAJB4","DNAJB6","DNAJC21","DNASE1L3","DOK7","DPM1","DPM2","DPP9","DSC2","DSG2","DSP","DYNC2LI1","EDA","EDN1","EFTUD2","EIF2AK4","ELN","ENG","ENPP1","EOMES","EP300","EPHA4","EPHB4","EPOR","ERBB4","ERF","ERGIC1","ETFA","ETFB","ETFDH","FAM13A","FAM20C","FBN1","FBP1","FDX2","FGFR1","FGFR2","FGFR3","FIG4","FIP1L1","FLNA","FLNC","FOXE3","FOXF1","FOXP3","FUS","FZR1","GAA","GALC","GATA4","GATA5","GATA6","GBA1","GJA5","GLA","GLE1","GLT8D1","GMNN","GNAI3","GNAS","GOSR2","GTPBP3","GYG1","HBB","HCCS","HEY2","HLA-B","HLA-DPB1","HLA-DRB1","HLCS","HNRNPA1","IDH1","IFIH1","IFNG","IFT52","IFT81","IKZF1","IL1RN","IL6ST","IPO8","IRAK1","IRF2BP2","IRF5","ISCU","ITGA3","JAK2","JPH2","KAT6A","KATNB1","KCNA1","KCNA5","KCNE1","KCNE2","KCNJ2","KCNJ3","KCNJ5","KCNJ6","KCNQ1","KIF20A","KIT","KLHL24","KLHL7","KRT16","KRT17","KRT6A","KRT6B","LAMA3","LAMB2","LAMB3","LAMC2","LDLR","LDLRAP1","LGI4","LIFR","LMNA","LONP1","LOX","LRP12","LRP4","LTBP3","LYRM4","MAPT","MARS1","MAT2A","MATR3","MEGF10","MFAP5","MGAT2","MGME1","MMAA","MMAB","MMACHC","MMUT","MOGS","MPC1","MPV17","MRPL3","MT-ATP6","MT-ATP8","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND5","MT-ND6","MT-TE","MT-TK","MT-TL1","MT-TN","MT-TS1","MT-TV","MT-TW","MTM1","MUC5B","MUSK","MYBPC3","MYH11","MYH6","MYH7","MYL2","MYL3","MYL4","MYLK","MYO9A","MYOZ2","MYPN","NABP1","NAGS","NDE1","NDUFA8","NDUFB11","NEB","NEFH","NEK1","NEMF","NGLY1","NKX2-1","NKX2-5","NKX2-6","NOD2","NPM1","NPPA","NUMA1","NUP155","NUP214","OPTN","ORC1","ORC4","ORC6","OTX2","PARN","PCSK9","PFN1","PGM1","PIEZO2","PIGA","PIGT","PITX2","PKP2","PLCB4","PLEC","PML","PMM2","PNKD","PNPLA2","POLG","POLG2","POMT1","PON1","PON2","PON3","PPARGC1A","PPP1R21","PRKAG2","PRKAR1A","PRKCSH","PRKG1","PRPH","PRRT2","PRRX1","PSAP","PUF60","PURA","PYGM","RAPSN","RARA","REEP1","RELN","RNF13","RNU4ATAC","RPS26","RPS28","RRM2B","RTEL1","RUNX2","SAT1","SBDS","SCN1B","SCN2B","SCN3B","SCN4A","SCN4B","SCN5A","SCNN1A","SCNN1B","SCNN1G","SCO2","SCYL2","SDCCAG8","SDHA","SERPINA1","SERPING1","SERPINH1","SETBP1","SFTPA1","SFTPA2","SFTPB","SFTPC","SH2B3","SIK1","SLC12A3","SLC18A3","SLC1A3","SLC22A5","SLC25A1","SLC25A3","SLC25A4","SLC2A10","SLC31A1","SLC34A2","SLC35A1","SLC52A3","SLC5A7","SMAD2","SMAD3","SMAD4","SMARCAL1","SMC5","SMPD1","SNAP25","SNRPN","SOD1","SOX9","SPP1","SQSTM1","SRP54","SSR4","STAT3","STAT4","STAT5B","STN1","STT3B","STX16","SUCLG1","SURF1","SYT2","TAF15","TARDBP","TBC1D24","TBK1","TBL1XR1","TBX20","TBX4","TERC","TERT","TET2","TFAM","TFG","TGFB2","TGFB3","TGFBR1","TGFBR2","THSD4","TINF2","TK2","TLL1","TMEM126B","TNNC1","TNNI3","TNNT2","TP73","TPI1","TRAK1","TREM2","TRIP11","TRMT10C","TRMT5","TRMU","TRPM4","TRPV6","TSC1","TSC2","TSFM","TTN","TUBB4A","TWNK","UBA1","UBE3B","UBQLN2","UNC13A","USP9X","VAMP1","VAPB","VCL","VCP","VPS33A","WAS","WDR45B","WIPF1","XPNPEP2","YARS2","ZBTB16","ZFPM2","ZIC3","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_EMPHYSEMA":{"collection":"C5:HPO","systematicName":"M35638","pmid":"","exactSource":"HP:0002097","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002097","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EMPHYSEMA","geneSymbols":["ABCA3","ALDH18A1","APC2","ATP6V0A2","ATP6V1A","ATP6V1E1","BTNL2","CARD10","CD19","CD81","CDT1","CFTR","COL3A1","CR2","DNASE1L3","DYNC2LI1","EFEMP2","ELN","EVC","EVC2","FARSB","FBLN5","FBN1","FLCN","GLA","GLI1","GMNN","HLA-DRB1","ICOS","IPO8","IRF2BP2","LMNA","LTBP1","LTBP4","MGP","MS4A1","NAF1","NDUFAF6","NFKB1","NFKB2","NSD1","ORC1","PI4KA","PRKACA","PRKACB","PRKCD","RHOH","SCNN1A","SCNN1B","SCNN1G","SERPINA1","SETD2","SON","SPINK5","TAP1","TAP2","TAPBP","TGFB2","TNFRSF13B","TNFRSF13C","TNFSF12","TSC1","TSC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RESPIRATORY_DISTRESS":{"collection":"C5:HPO","systematicName":"M35639","pmid":"","exactSource":"HP:0002098","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002098","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RESPIRATORY_DISTRESS","geneSymbols":["ABCA3","ABCC6","ACADS","ACADVL","ACTA1","ADAMTS13","ADCY6","ADNP","AGRN","AIFM1","ALG12","ALMS1","ASAH1","ATP1A2","ATP1A3","ATP5F1A","ATP5F1D","ATP5F1E","ATP5MK","ATP6V1B2","ATPAF1","ATPAF2","B3GALT6","BAP1","BMPER","BOLA3","BTD","CACNA1A","CDC45","CDC6","CDT1","CHAT","CHRNE","CLCNKB","CLPB","CNTNAP1","COL13A1","COL25A1","COL2A1","COLQ","COQ7","COX7B","CREBBP","CSF2RA","CSF2RB","DHX16","DISC1","DMPK","DNAAF3","DNAJC21","DPM1","DPM2","DYNC2LI1","EDA","EDN1","EFTUD2","ENPP1","EOMES","EP300","EPHB4","ERF","ERGIC1","ETFA","ETFB","ETFDH","FAM20C","FBP1","FGFR1","FGFR2","FGFR3","FOXF1","FOXP3","GAA","GALC","GATA6","GBA1","GMNN","GNAI3","GOSR2","HCCS","HLCS","IDH1","IFIH1","IFNG","IFT52","IFT81","IL1RN","IL6ST","ITGA3","KAT6A","KATNB1","KCNA1","KLHL7","KRT16","KRT17","KRT6A","KRT6B","LAMA3","LAMB2","LAMB3","LAMC2","LGI4","LIFR","LMNA","LONP1","LRP12","LYRM4","MAPT","MEGF10","MGAT2","MMAA","MMAB","MMACHC","MMUT","MOGS","MPC1","MPV17","MT-ATP6","MT-ATP8","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND5","MT-ND6","MT-TE","MT-TK","MT-TL1","MT-TN","MT-TS1","MT-TV","MT-TW","MTM1","MYBPC3","MYO9A","NAGS","NDE1","NDUFA8","NDUFB11","NEMF","NGLY1","NKX2-1","NUP214","ORC1","ORC4","ORC6","OTX2","PLCB4","PMM2","POMT1","PPP1R21","PRKAG2","PRRX1","PSAP","PUF60","PURA","REEP1","RELN","RNF13","RPS26","RPS28","RRM2B","RUNX2","SBDS","SCN4A","SCO2","SCYL2","SDCCAG8","SDHA","SERPING1","SERPINH1","SETBP1","SFTPB","SFTPC","SIK1","SLC12A3","SLC18A3","SLC1A3","SLC22A5","SLC25A1","SLC25A3","SLC2A10","SLC31A1","SLC35A1","SLC52A3","SLC5A7","SNAP25","SNRPN","SOX9","SRP54","SSR4","STAT5B","STT3B","SUCLG1","SURF1","SYT2","TBC1D24","TFAM","TK2","TP73","TPI1","TRAK1","TRIP11","TRMT10C","TRMU","TRPV6","TSC1","TSC2","TUBB4A","UBA1","UBE3B","USP9X","VAMP1","VPS33A","WDR45B","XPNPEP2","YARS2","ZFPM2","ZIC3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ASTHMA":{"collection":"C5:HPO","systematicName":"M35640","pmid":"","exactSource":"HP:0002099","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002099","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ASTHMA","geneSymbols":["ADA","AFF4","AGR2","ALG9","ALMS1","ALOX5","ARL6","ARSL","ARVCF","BBS1","BCL11B","C4B","CARD10","CARD11","CARMIL2","CASP8","CCDC28B","CCL11","CDC42BPB","CDKN1C","CDON","CDSN","CEACAM3","CEACAM6","CFTR","CLCA4","COMT","COX4I2","CREBBP","DCTN4","DDX41","DISP1","DLL1","DOCK8","DPP9","EDNRA","ELOVL4","EP300","ERCC2","FCGR2A","FGF8","FGFR1","FLG","FOCAD","FOXH1","FOXP2","GAS1","GCLC","GGT1","GLI2","GNB1","GNB2","GP1BA","GP1BB","GP9","GRHL2","GSTM3","HFE","HIRA","HLA-G","HMGA2","HMOX1","HNMT","IDS","IFT172","IGF2","IGHG2","IGKC","IL13","IL21R","IL4R","IL6ST","IPO8","JAK1","JMJD1C","KCNN4","LIFR","LIG4","LMX1B","LRBA","MIA3","MIF","MS4A2","MTOR","MUC7","NEK9","NFKB2","NKX2-1","NOD2","NODAL","NSUN2","ODAD3","ODC1","PEPD","PEX5","PGM3","PLA2G7","PLAG1","PLCG2","PTCH1","PTGER2","RELB","RFX7","RIC1","RREB1","SCGB3A2","SCN4A","SDHD","SEC24C","SERPINA1","SHH","SIK3","SIX3","SLC11A1","SLC26A9","SLC27A4","SLC6A14","SLC9A3","SPINK5","STX1A","STXBP1","SUFU","TALDO1","TBCK","TBX1","TBX21","TDGF1","TGFB1","TGIF1","TNF","TRAIP","TTC26","UFD1","UNC45A","USP7","VPS51","WAC","WDR11","ZIC2","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RECURRENT_ASPIRATION_PNEUMONIA":{"collection":"C5:HPO","systematicName":"M35641","pmid":"","exactSource":"HP:0002100","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002100","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_ASPIRATION_PNEUMONIA","geneSymbols":["ASAH1","ATP6V0A1","CRLF1","CSPP1","EPM2A","GBA1","GIPC1","HLA-DQA1","HLA-DQB1","IGBP1","KAT6A","KDM6A","KIAA0586","KMT2D","KNSTRN","LONP1","LRP12","MID1","NFIX","NHLRC1","NOS1","NOTCH2NLC","NTRK1","PDHA1","PIGN","PIK3CD","RILPL1","SLC25A24","SP110"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_LUNG_LOBATION":{"collection":"C5:HPO","systematicName":"M35642","pmid":"","exactSource":"HP:0002101","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002101","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LUNG_LOBATION","geneSymbols":["AKT1","ALG9","ARVCF","BUB1","BUB1B","BUB3","CC2D2A","CEP57","CHUK","COMT","DHCR7","EMG1","FANCB","FOXF1","FRAS1","FREM2","GDF1","GLI3","GP1BB","GPC3","GPC4","GRIP1","HIRA","HYLS1","JMJD1C","LBR","MEIS2","NEK8","NKX2-6","NODAL","PIGT","PLXND1","PTEN","PUF60","RREB1","RSPO2","SEC24C","TBX1","TRIP13","UFD1","WNT3","WT1","ZIC3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PLEURITIS":{"collection":"C5:HPO","systematicName":"M35643","pmid":"","exactSource":"HP:0002102","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002102","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PLEURITIS","geneSymbols":["C4A","CCR1","CTLA4","DNASE1","ERAP1","FAS","FCGR2A","FCGR2B","HLA-B","HLA-DPA1","HLA-DPB1","IFNGR1","IL10","IL12A","IL12A-AS1","IL23R","IRF4","KLRC4","MEFV","NOD2","PRG4","PRTN3","PTPN22","STAT4","TLR4","TNFRSF1A","TREX1","UBAC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_PLEURA_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M35644","pmid":"","exactSource":"HP:0002103","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002103","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PLEURA_MORPHOLOGY","geneSymbols":["ABL1","ACTA1","ACTA2","ACTN4","ADAMTS2","ADAMTS3","AGR2","ALG14","ATP6V1A","ATP6V1E1","B3GALT6","BAP1","BCL2","BCL6","BLTP1","BMP2","BRAF","BTNL2","C4A","CALCRL","CARD10","CAV1","CBL","CCBE1","CCND1","CCR1","CD28","CD46","CEACAM3","CEACAM6","CFH","CFI","CFTR","CHST14","CLCA4","CLPB","COL3A1","CTLA4","CTRC","CYBB","CYBC1","DCTN4","DDR2","DEF6","DICER1","DNASE1","DNASE1L3","DSE","DZIP1L","EDNRA","EFEMP2","EIF2AK4","ELN","ELP1","ENG","EPHB4","ERAP1","EXT1","EXT2","FAS","FAT4","FBLN5","FBN1","FCGR2A","FCGR2B","FLCN","FOXC2","FOXE3","FOXF1","FSHR","GAA","GCLC","GPKOW","GPR35","GSTM3","GUSB","HELLPAR","HEY2","HFE","HLA-B","HLA-DPA1","HLA-DPB1","HLA-DRB1","HMOX1","HRAS","IFIH1","IFNGR1","IKZF1","IL10","IL12A","IL12A-AS1","IL23R","IL6","IPO8","IRAK1","IRF4","ITK","KCNN4","KEAP1","KIF11","KLRC4","LACC1","LAMA3","LAMB3","LAMC2","LOX","LTBP1","LYST","LZTR1","MAP2K1","MAT2A","MDFIC","MEFV","MFAP5","MIF","MST1","MTO1","MYD88","MYH11","MYLK","NAB2","NOD2","NR1H4","P4HA2","PIEZO1","PKHD1","PLVAP","PRG4","PRKAG2","PRKG1","PRSS1","PRSS2","PRTN3","PTPN11","PTPN22","RASA1","RIT1","SAT1","SCARB2","SCN4A","SEMA4D","SERPINA1","SERPINF2","SFTPB","SFTPC","SLC11A1","SLC25A24","SLC26A9","SLC31A1","SLC34A2","SLC6A14","SLC9A3","SMAD2","SMAD3","SMAD4","SOX18","SPINK1","SPP1","STAT4","STAT6","STX1A","TAPT1","TCF4","TGFB1","TGFB2","TGFB3","TGFBR1","TGFBR2","THSD4","TLR4","TNFRSF1A","TNFRSF1B","TREX1","TSC1","TSC2","TXNDC15","UBAC2","USP18","VPS51","WARS2","ZNFX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APNEA":{"collection":"C5:HPO","systematicName":"M35645","pmid":"","exactSource":"HP:0002104","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002104","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APNEA","geneSymbols":["ABCA3","ABCC9","ACADSB","ACY1","ADAM22","ADGRG1","AFF4","AGRN","AHDC1","AHI1","AIP","ALPL","AMER1","AP3D1","ARCN1","ARL13B","ARL3","ARMC9","ARSB","ARSL","ASCL1","ASNS","ASXL1","ATN1","ATP1A2","ATP1A3","ATP5F1A","B9D1","B9D2","BCHE","BICD2","BMP2","BRAF","BRAT1","BTD","BUB1","BUB1B","BUB3","C2CD3","CA2","CACNA1A","CACNA1C","CACNA1I","CACNA2D1","CAMK2B","CBY1","CC2D2A","CCDC47","CDC42BPB","CDK13","CDKL5","CDON","CEP104","CEP120","CEP290","CEP41","CEP57","CHAMP1","CHAT","CHRNE","CISD2","CLCN7","COL13A1","COL3A1","COLQ","COQ2","CPLANE1","CPT2","CREBBP","CRLS1","CRYAB","CSPP1","CTNNB1","CTSD","CTSK","D2HGDH","DCTN1","DDB1","DDC","DISP1","DKK1","DLL1","DMD","DNA2","DPAGT1","DPH1","DPH2","DPH5","DST","ECHS1","EDN1","EP300","EXOC2","EXT2","FAM149B1","FARS2","FBN1","FBP1","FBXO28","FGF13","FGF8","FGFR1","FGFR2","FGFR3","FLCN","FOXH1","FXR1","GABBR2","GABRG2","GAS1","GBA1","GLI2","GLRA1","GLUL","GNAI3","GNB2","GNE","GNPTAB","GPHN","GPR101","GRB10","GRIK2","GRIN1","GRIN2A","GSN","GUSB","H4C5","HACD1","HDAC4","HERC2","HMGCL","HRAS","HSPD1","HSPG2","HTRA2","HYLS1","IDS","IDUA","IFT74","IL6ST","INPP5E","KAT6B","KATNIP","KCNJ11","KCNQ2","KCNQ3","KIAA0586","KIAA0753","KIF5A","KIF7","LAMB2","LARP7","LBX1","LIAS","LIFR","LRPPRC","LRRC32","LTBP3","MAGEL2","MCCC1","MCM3AP","MECP2","MED27","MINPP1","MKRN3","MKS1","MOG","MOGS","MRPS34","MT-ATP6","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND5","MT-ND6","MT-TK","MT-TL1","MT-TV","MT-TW","MTHFR","MYL1","MYO1H","MYO9A","NAA10","NACC1","NADK2","NALCN","NCAPG2","NDN","NDUFA11","NDUFA2","NDUFA6","NDUFAF2","NDUFS1","NDUFS2","NDUFS4","NDUFS8","NDUFV1","NEB","NEFH","NEK1","NFIX","NGLY1","NODAL","NONO","NOTCH3","NPAP1","NPHP1","NTNG1","NUP214","OCA2","OFD1","OPA1","P4HTM","PCCA","PCCB","PCGF2","PCK1","PDE6D","PDHA1","PEX13","PEX5","PHOX2B","PI4KA","PIBF1","PIGT","PLA2G6","PLAA","PLCB4","PLCH1","PLPBP","POGZ","PRKAG2","PRKAR1B","PRMT7","PRNP","PRPH","PRPS1","PRR12","PRRT2","PSAP","PSAT1","PTCH1","PTF1A","PURA","PWAR1","PWRN1","RAB11B","RAI1","RARS2","RBM10","RECQL4","RERE","RET","RNF125","RPGRIP1L","RPS6KA3","RUNX2","SATB2","SCN2A","SCN4A","SCN5A","SCN8A","SCO1","SEPSECS","SFTPB","SH3BP2","SHH","SIM1","SIN3A","SIX3","SKI","SLC18A3","SLC1A3","SLC25A1","SLC25A12","SLC25A20","SLC2A1","SLC39A8","SLC5A7","SLC6A5","SLC6A9","SMC1A","SNAP25","SNORD115-1","SNORD116-1","SNRPN","SNX10","SOD1","SOX9","SPOP","SRPX2","STAG2","STAT2","STIL","SUCLG1","SUFU","SYT1","SYT2","TBR1","TCF4","TCIRG1","TCTN1","TCTN2","TCTN3","TDGF1","TECPR2","TERT","TGIF1","TMEM107","TMEM138","TMEM216","TMEM218","TMEM231","TMEM237","TMEM67","TNFSF11","TNNT1","TOE1","TOGARAM1","TOPORS","TRIP13","TRPV4","TSEN15","TSEN2","TSEN34","TSEN54","TSPYL1","TTC19","TWIST1","UNC80","USP7","VAMP1","VPS51","WFS1","ZBTB7A","ZC4H2","ZIC2","ZMYM2","ZNF423"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HEMOPTYSIS":{"collection":"C5:HPO","systematicName":"M35646","pmid":"","exactSource":"HP:0002105","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002105","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEMOPTYSIS","geneSymbols":["ACTA2","ACVRL1","BTNL2","C4A","CCR1","CEACAM3","CEACAM6","CFTR","CLCA4","CLEC7A","COL3A1","COL5A1","COL5A2","CTLA4","DCTN4","DNASE1L3","EDNRA","EIF2AK4","ELN","ENG","ERAP1","F5","FAS","FBN1","FCGR2A","FOXE3","GCLC","GDF2","GIMAP5","GSTM3","HEY2","HFE","HLA-B","HLA-DPA1","HLA-DPB1","HLA-DRB1","HMOX1","IFNG","IFNGR1","IL10","IL12A","IL12A-AS1","IL12B","IL17F","IL17RA","IL17RC","IL23R","KCNN4","KLRC4","LOX","MAT2A","MEFV","MFAP5","MIF","MLX","MYH11","MYLK","ODAD1","PRKG1","PRTN3","PTPN22","SCNN1A","SCNN1B","SCNN1G","SERPINA1","SLC11A1","SLC26A9","SLC34A2","SLC6A14","SLC9A3","SMAD2","SMAD3","SMAD4","STAT4","STX1A","TGFB1","TGFB2","TGFB3","TGFBR1","TGFBR2","THSD4","TLL1","TLR4","TRAF3IP2","TSC1","TSC2","UBAC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PNEUMOTHORAX":{"collection":"C5:HPO","systematicName":"M35647","pmid":"","exactSource":"HP:0002107","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002107","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PNEUMOTHORAX","geneSymbols":["ABL1","ACTA2","ADAMTS2","ADAMTS3","ATP6V1A","ATP6V1E1","B3GALT6","BTNL2","CAV1","CEACAM3","CEACAM6","CFTR","CHST14","CLCA4","CLPB","COL3A1","DCTN4","DDR2","DSE","DZIP1L","EDNRA","EFEMP2","ELN","EXT1","EXT2","FBLN5","FBN1","FLCN","FOXE3","GCLC","GSTM3","HEY2","HFE","HLA-DRB1","HMOX1","HRAS","IPO8","KCNN4","LAMA3","LAMB3","LAMC2","LOX","LTBP1","MAT2A","MFAP5","MIF","MYH11","MYLK","PKHD1","PRKG1","SERPINA1","SFTPB","SFTPC","SLC11A1","SLC25A24","SLC26A9","SLC31A1","SLC34A2","SLC6A14","SLC9A3","SMAD2","SMAD3","SMAD4","STX1A","TGFB1","TGFB2","TGFB3","TGFBR1","TGFBR2","THSD4","TSC1","TSC2","TXNDC15","WARS2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SPONTANEOUS_PNEUMOTHORAX":{"collection":"C5:HPO","systematicName":"M35648","pmid":"","exactSource":"HP:0002108","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002108","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPONTANEOUS_PNEUMOTHORAX","geneSymbols":["ADAMTS2","ADAMTS3","CAV1","COL3A1","DZIP1L","FLCN","PKHD1","SFTPB","SFTPC","TGFBR2","THSD4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BRONCHIECTASIS":{"collection":"C5:HPO","systematicName":"M43269","pmid":"","exactSource":"HP:0002110","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002110","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BRONCHIECTASIS","geneSymbols":["ABCA3","AGR2","ALDH18A1","ARHGEF1","ARL2BP","ATM","ATP11A","B2M","BACH2","BLM","BLNK","BTK","BTNL2","C1QB","CARD10","CARD11","CARMIL2","CCDC103","CCDC39","CCDC40","CCDC65","CCNO","CD19","CD79A","CD79B","CD81","CD8A","CEACAM3","CEACAM6","CFAP221","CFAP298","CFAP300","CFAP74","CFTR","CLCA4","CR2","CTLA4","CXCR4","DCTN4","DIAPH1","DNAAF1","DNAAF11","DNAAF2","DNAAF3","DNAAF4","DNAAF5","DNAAF6","DNAH1","DNAH11","DNAH5","DNAH9","DNAI1","DNAI2","DNAJB13","DNAL1","DNMT3B","DOCK8","DPP9","DRC1","DSP","EDNRA","ELN","EMILIN1","FAM13A","FBLN5","FCGR2A","FNIP1","FOXJ1","GAS2L2","GAS8","GCLC","GSTM3","HFE","HLA-DRB1","HMOX1","HYDIN","ICOS","IGHG2","IGHM","IGKC","IGLL1","IL21R","IL6ST","IRF2BP2","IRF8","IRF9","KCNN4","LAT","LRBA","LRRC56","LRRC8A","MAGT1","MALT1","MCIDAS","MIF","MPEG1","MS4A1","MUC5B","NBN","NCKAP1L","NDUFA6","NEK10","NFKB1","NFKB2","NME5","NME8","ODAD1","ODAD2","ODAD3","ODAD4","OFD1","PARN","PGM3","PI4KA","PIK3CD","PIK3R1","POLA1","POLE","PRKCD","PTEN","RAC2","RASGRP1","RIN2","RIPK1","RPGR","RSPH1","RSPH3","RSPH4A","RSPH9","RTEL1","SASH3","SCNN1A","SCNN1B","SCNN1G","SERPINA1","SFTPA1","SFTPA2","SFTPC","SLC11A1","SLC26A9","SLC29A3","SLC34A2","SLC39A7","SLC41A1","SLC6A14","SLC9A3","SLF2","SPAG1","SPEF2","SPI1","STAT1","STK36","STK4","STN1","STX1A","STX3","SYK","TAP1","TAP2","TAPBP","TCF3","TERC","TERT","TET2","TGFB1","TNFRSF13B","TNFRSF13C","TNFRSF9","TNFSF12","TOM1","TP73","TPP2","TTC12","UNC119","WDR1","ZMYND10","ZNF341"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PULMONARY_INFILTRATES":{"collection":"C5:HPO","systematicName":"M35650","pmid":"","exactSource":"HP:0002113","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002113","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PULMONARY_INFILTRATES","geneSymbols":["APOE","ASAH1","BACH2","BCL10","BCL11A","BIRC3","BTNL2","C4A","CASP10","CAV1","CCN2","CCR1","CCR6","CTLA4","DOCK2","ERAP1","FAS","FASLG","FOXP1","GBA1","HBB","HBG1","HBG2","HLA-B","HLA-DPA1","HLA-DPB1","HLA-DRB1","IFNGR1","IL10","IL12A","IL12A-AS1","IL23R","IL2RA","IRF5","KLF1","KLRC4","LPIN2","MALT1","MEFV","MYD88","NKX2-1","PDGFRA","PRIM1","PRKCD","PRTN3","PTPN22","RAB27A","RASGRP1","SFTPB","SLC34A2","SLC41A1","SMPD1","STAT4","TLR4","TSC1","TSC2","UBA1","UBAC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CEREBRAL_VENTRICLE_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M35651","pmid":"","exactSource":"HP:0002118","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002118","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CEREBRAL_VENTRICLE_MORPHOLOGY","geneSymbols":["AARS1","AARS2","ABCD1","ACD","ACP5","ACTA2","ACTB","ACTG1","ADAR","ADAT3","ADGRG1","ADNP","AFF3","AHCY","AHI1","AKT1","AKT3","ALDH6A1","ALDH7A1","ALG12","ALG13","ALG2","ALG3","ALG8","ALPK3","AMER1","AMPD2","ANKLE2","ANKRD11","ANTXR1","AP1S2","AP4B1","AP4E1","AP4M1","APC2","ARHGAP31","ARID1A","ARID1B","ARID2","ARL13B","ARL3","ARMC9","ARSB","ARSI","ARVCF","ARX","ASNS","ASPM","ASXL1","ASXL2","ASXL3","ATP11A","ATP1A1","ATP1A3","ATP6AP2","ATP6V0A2","ATP6V1A","ATP6V1B2","ATP6V1E1","ATXN1","ATXN2","ATXN3","B3GALNT2","B3GALT6","B3GAT3","B3GLCT","B4GALT1","B4GAT1","B9D1","B9D2","BAP1","BCAP31","BCOR","BGN","BICD2","BICRA","BLTP1","BMP2","BMP4","BRAF","BRCA1","BRCA2","BRD4","BRF1","BRIP1","BUB1","BUB1B","BUB3","C12orf57","C2CD3","CARS1","CASK","CASZ1","CBY1","CC2D2A","CCDC103","CCDC174","CCDC22","CCDC39","CCDC40","CCDC65","CCDC88A","CCDC88C","CCL2","CCND2","CCNO","CDC40","CDC42","CDC42BPB","CDCA7","CDK5RAP2","CDK6","CDKN1C","CDKN2A","CDON","CELF2","CENPE","CENPF","CENPJ","CEP104","CEP120","CEP135","CEP152","CEP290","CEP41","CEP57","CEP63","CEP83","CFAP221","CFAP298","CFAP300","CFAP43","CFAP74","CHD3","CHD4","CHD7","CHEK2","CHST14","CHST3","CILK1","CIT","CLCN3","CLCN4","CLCN7","CLIC2","CLP1","CLTC","COASY","COG1","COG4","COG5","COG6","COG8","COL18A1","COL3A1","COL4A1","COL4A2","COMT","COPB2","COX16","COX20","COX6B1","COX7B","COX8A","CPLANE1","CPLX1","CPT2","CRB2","CREBBP","CRPPA","CRTAP","CSF1R","CSGALNACT1","CSPP1","CTBP1","CTCF","CTDP1","CTNNA2","CTNNB1","CTSC","CTSF","CUL4B","CUX1","CYFIP2","CYP26C1","D2HGDH","DAG1","DCC","DCHS1","DCX","DDX3X","DEAF1","DENND5A","DHCR24","DHCR7","DHX30","DHX37","DIAPH1","DISC1","DISP1","DKC1","DLL1","DLL4","DMPK","DNAAF1","DNAAF11","DNAAF2","DNAAF3","DNAAF4","DNAAF5","DNAAF6","DNAH1","DNAH11","DNAH5","DNAH9","DNAI1","DNAI2","DNAJB13","DNAL1","DNM1","DNMT1","DNMT3A","DNMT3B","DOCK6","DOHH","DOK7","DONSON","DPF2","DPH1","DPH2","DPM1","DPYSL5","DRC1","DSE","DTYMK","DYNC2H1","DYNC2I1","DYNC2I2","DYRK1A","EBP","EHMT1","EIF2B4","EIF2B5","EIF2S3","EMG1","EML1","EOGT","EOMES","EP300","EPHB4","ERCC2","ERCC3","ERCC4","ERCC5","ERCC6","ERCC8","ERF","ERMARD","ESCO2","EVC","EVC2","EXOC2","EXOC8","EXT1","EXTL3","EZH2","FAM111A","FAM20C","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FAR1","FARS2","FAT4","FBN1","FBP1","FBXL4","FBXO28","FBXW11","FGF8","FGFR1","FGFR2","FGFR3","FGFRL1","FH","FIG4","FKRP","FKTN","FLI1","FLII","FLNA","FLVCR2","FOXF1","FOXH1","FOXJ1","FOXP3","FOXRED1","FRA10AC1","FRAS1","FTO","FUZ","GABBR2","GABRD","GALC","GAN","GAS1","GAS2L2","GAS8","GBA1","GCDH","GET4","GFAP","GFM2","GJB2","GJB6","GLB1","GLI2","GLI3","GLUL","GMPPB","GNAO1","GNAQ","GNAS","GNB2","GON7","GOSR2","GP1BB","GPC3","GPC4","GPSM2","GRIA3","GRIK2","GRIN1","GRIP1","GRM1","GRN","GTF2E2","GTF2H5","GTPBP2","GUSB","H1-4","H3-3A","H4C9","HBA1","HBA2","HCCS","HDAC4","HDAC6","HDAC8","HECW2","HELLS","HEPACAM","HERC1","HERC2","HES7","HIBCH","HIRA","HK1","HNRNPH1","HNRNPK","HNRNPU","HRAS","HS6ST2","HSD17B4","HSPG2","HTRA2","HTT","HUWE1","HYDIN","HYLS1","IARS2","IBA57","IDH1","IDS","IDUA","IFIH1","IFNG","IFT140","IFT172","IFT43","IFT74","IFT80","IGF2","INPP5E","INTU","IQSEC2","IRF4","ISCA1","ITPR1","JAM2","JAM3","JMJD1C","KANK1","KANSL1","KAT6B","KAT8","KATNB1","KATNIP","KCNAB2","KCNJ6","KCNK4","KCNN2","KCNQ1","KCNQ1OT1","KCTD1","KDM1A","KDM4B","KDM6A","KIAA0586","KIAA0753","KIDINS220","KIF14","KIF1A","KIF21A","KIF26A","KIF5A","KIF7","KIFBP","KLHL15","KMT2C","KMT2D","KMT5B","KNL1","KNSTRN","KPNA3","KPTN","KRAS","KRT14","KRT5","L1CAM","LAGE3","LAMA1","LAMB1","LARGE1","LETM1","LIG4","LIPT1","LIPT2","LMBR1","LMNB1","LMNB2","LONP1","LRRC32","LRRC56","LSM11","LUZP1","MAB21L1","MAD2L2","MAF","MAG","MAGEL2","MAN2B1","MAN2C1","MAP2K1","MAP2K2","MAPKAPK5","MAPRE2","MARS2","MAST1","MBTPS2","MC1R","MCIDAS","MCM7","MCPH1","MDM2","MED12","MED25","MEF2C","METTL5","MFN2","MFSD2A","MID1","MINPP1","MKRN3","MKS1","MMACHC","MMP23B","MOCS1","MOCS2","MPDU1","MPDZ","MPLKIP","MRE11","MRPS16","MSL3","MT-ATP6","MT-CYB","MTHFR","MTHFS","MTM1","MTOR","MTRR","MUSK","MYMK","MYMX","MYOD1","MYORG","MYT1L","NAA10","NADK2","NAE1","NANS","NAXD","NAXE","NCAPD3","NCAPG2","NDE1","NDN","NDST1","NDUFA6","NDUFA8","NDUFB11","NDUFS2","NDUFS8","NEDD4L","NEK1","NEK10","NEU1","NEXMIF","NF1","NF2","NFIA","NFIB","NFIX","NGLY1","NHLRC2","NIPA1","NIPA2","NIPBL","NKX3-2","NME5","NME8","NODAL","NOTCH1","NOTCH2","NOTCH2NLC","NOTCH3","NPAP1","NPHP1","NPHP3","NRAS","NRCAM","NSD1","NSD2","NSUN2","NUP107","NUP133","NUP188","NUP37","NUP88","OCA2","OCLN","OCRL","ODAD1","ODAD2","ODAD3","ODAD4","ODC1","OFD1","OGDH","OGDHL","OPHN1","OSGEP","OSTM1","OTUD5","OTUD6B","P4HB","PAFAH1B1","PAK2","PAK3","PALB2","PARN","PAX6","PCDH19","PCNT","PDE2A","PDE6D","PDGFB","PDGFRB","PDHA1","PDHB","PDHX","PDPN","PEX1","PEX10","PEX19","PEX2","PGAP1","PGAP2","PGAP3","PHACTR1","PHC1","PHGDH","PI4KA","PIBF1","PIEZO2","PIGA","PIGB","PIGG","PIGN","PIGO","PIGQ","PIGU","PIGV","PIK3CA","PIK3CD","PIK3R2","PLAA","PLCH1","PLG","PLOD3","PLPBP","PLXNA1","PMM2","PMPCA","PNKP","POLR2A","POLR3A","POLRMT","POMGNT1","POMGNT2","POMK","POMT1","POMT2","POR","PORCN","PPFIBP1","PPIL1","PPP1CB","PPP1R12A","PPP1R21","PPP2CA","PPP2R1A","PPP2R5D","PRDM16","PRDX1","PRKAG2","PRKAR1A","PRKCZ","PRNP","PSAP","PSAT1","PTCH1","PTCH2","PTDSS1","PTEN","PTPN23","PUF60","PUS3","PUS7","PWAR1","PWRN1","PYCR1","PYCR2","QARS1","RAB11B","RAB18","RAB3GAP1","RAB3GAP2","RAC1","RAC3","RAD21","RAD51","RAD51C","RAI1","RAPSN","RASA1","RBPJ","RECQL4","RERE","RFWD3","RHOBTB2","RNASEH2A","RNASEH2B","RNASEH2C","RNASET2","RNF113A","RNF125","RNF213","RNU12","RNU4ATAC","RNU7-1","ROBO1","ROGDI","RPGR","RPGRIP1","RPGRIP1L","RPS6KA3","RRAS2","RREB1","RSPH1","RSPH3","RSPH4A","RSPH9","RSPO2","RTEL1","RTTN","RXYLT1","SALL1","SAMD9","SAMHD1","SARS1","SASS6","SATB1","SCN4A","SCO2","SEC24C","SEC24D","SEC31A","SEMA3E","SEPSECS","SETBP1","SETD2","SF3B2","SF3B4","SH2B1","SHANK3","SHH","SHMT2","SHOC2","SHPK","SHQ1","SIK3","SIM1","SIN3A","SIN3B","SIX3","SKI","SLC12A6","SLC13A5","SLC17A5","SLC18A3","SLC20A2","SLC25A1","SLC25A19","SLC25A24","SLC29A3","SLC2A1","SLC31A1","SLC35A2","SLC39A8","SLC6A9","SLC9A6","SLITRK2","SLX4","SMARCA4","SMARCB1","SMARCC1","SMARCC2","SMARCD1","SMARCE1","SMC1A","SMC3","SMG9","SMO","SMOC1","SNIP1","SNORD115-1","SNORD116-1","SNRPN","SNX10","SON","SOX11","SOX2","SOX4","SOX9","SPAG1","SPATA5L1","SPEF2","SPEN","SPG11","SPRED2","SPTBN1","STAC3","STAG2","STIL","STK36","STRADA","SUCLA2","SUFU","SUMF1","TAF1","TAF13","TAF2","TAF8","TAOK1","TAPT1","TARS1","TBC1D24","TBC1D2B","TBC1D7","TBCD","TBCE","TBCK","TBL1XR1","TBX1","TBX15","TBXT","TCF4","TCIRG1","TCTN1","TCTN2","TCTN3","TDGF1","TERT","TET3","TGDS","TGFBR1","TGFBR2","TGIF1","THOC2","THOC6","TIMMDC1","TINF2","TMCO1","TMEM107","TMEM138","TMEM147","TMEM216","TMEM218","TMEM222","TMEM231","TMEM237","TMEM67","TMTC3","TMX2","TNFRSF11A","TNFSF11","TNNI3","TNPO2","TOE1","TOGARAM1","TP53","TP53RK","TPRKB","TRAF7","TRAIP","TRAPPC10","TRAPPC12","TRAPPC14","TRAPPC6B","TREM2","TREX1","TRIM37","TRIM71","TRIP13","TRMT1","TRNT1","TRPM3","TRPS1","TRPV4","TRPV6","TRRAP","TSC1","TSC2","TSEN15","TSEN2","TSEN34","TSEN54","TSFM","TTC12","TTC26","TTC5","TUBA1A","TUBA8","TUBB","TUBB2A","TUBB2B","TUBB3","TUBG1","TUBGCP2","TXN2","TXNDC15","TYROBP","UBE2T","UBE3B","UBE4B","UBTF","UFD1","UGDH","UNC45A","USP18","USP7","USP9X","VAC14","VANGL1","VANGL2","VPS11","VPS13A","VPS33A","VPS35L","VPS37A","VPS51","VPS53","VRK1","VSX1","WAC","WARS1","WARS2","WASF1","WASHC5","WDR26","WDR35","WDR4","WDR45B","WDR62","WDR73","WDR81","WLS","WNT3","XPR1","XRCC2","XRCC4","YARS1","YIPF5","YME1L1","YRDC","YWHAE","YY1","ZBTB11","ZBTB18","ZBTB20","ZBTB24","ZC4H2","ZEB2","ZIC1","ZIC2","ZIC3","ZMIZ1","ZMYND10","ZNF148","ZNF292","ZNF335","ZNF423","ZNF462","ZNF699","ZNHIT3","ZPR1","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_VENTRICULOMEGALY":{"collection":"C5:HPO","systematicName":"M35652","pmid":"","exactSource":"HP:0002119","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002119","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VENTRICULOMEGALY","geneSymbols":["AARS1","AARS2","ABCD1","ACD","ACP5","ACTA2","ACTB","ACTG1","ADAR","ADAT3","ADGRG1","ADNP","AFF3","AHCY","AHI1","AKT3","ALDH6A1","ALDH7A1","ALG12","ALG2","ALG3","ALG8","ALPK3","AMPD2","ANKLE2","ANKRD11","ANTXR1","AP1S2","AP4B1","AP4E1","AP4M1","APC2","ARHGAP31","ARID1A","ARID1B","ARID2","ARMC9","ARX","ASNS","ASPM","ASXL1","ASXL2","ASXL3","ATP11A","ATP1A1","ATP1A3","ATP6AP2","ATP6V0A2","ATP6V1A","ATP6V1B2","ATP6V1E1","ATXN1","ATXN2","ATXN3","B3GALNT2","B3GLCT","B4GALT1","B4GAT1","B9D1","B9D2","BCAP31","BCOR","BGN","BICD2","BLTP1","BMP2","BMP4","BRCA1","BRCA2","BRD4","BRF1","BRIP1","BUB1","BUB1B","BUB3","C12orf57","C2CD3","CARS1","CASK","CASZ1","CC2D2A","CCDC103","CCDC174","CCDC22","CCDC39","CCDC40","CCDC65","CCDC88A","CCDC88C","CCND2","CCNO","CDC42","CDC42BPB","CDK5RAP2","CDK6","CDKN1C","CELF2","CENPE","CENPJ","CEP120","CEP135","CEP152","CEP290","CEP57","CEP63","CFAP221","CFAP298","CFAP300","CFAP74","CHD3","CHD4","CHD7","CHST14","CILK1","CIT","CLCN3","CLCN4","CLP1","CLTC","COASY","COG1","COG4","COG5","COG6","COG8","COL18A1","COL3A1","COL4A1","COL4A2","COPB2","COX16","COX20","COX6B1","COX8A","CPLX1","CPT2","CRB2","CRPPA","CSF1R","CSGALNACT1","CSPP1","CTBP1","CTCF","CTDP1","CTNNB1","CTSF","CUL4B","CUX1","CYFIP2","D2HGDH","DAG1","DCHS1","DCX","DDX3X","DEAF1","DENND5A","DHCR24","DHCR7","DHX30","DIAPH1","DISC1","DKC1","DLL1","DMPK","DNAAF1","DNAAF11","DNAAF2","DNAAF3","DNAAF4","DNAAF5","DNAAF6","DNAH1","DNAH11","DNAH5","DNAH9","DNAI1","DNAI2","DNAJB13","DNAL1","DNM1","DNMT1","DNMT3A","DOCK6","DOHH","DOK7","DPF2","DPH1","DPH2","DPM1","DPYSL5","DRC1","DSE","DTYMK","DYNC2H1","DYNC2I1","DYNC2I2","DYRK1A","EBP","EHMT1","EIF2B4","EIF2B5","EIF2S3","EMG1","EML1","EOMES","ERCC2","ERCC3","ERCC4","ERCC5","ERCC6","ERCC8","ESCO2","EVC","EVC2","EXOC2","EXT1","EXTL3","EZH2","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FAR1","FARS2","FAT4","FBN1","FBP1","FBXL4","FBXO28","FBXW11","FGFR1","FGFR2","FGFR3","FGFRL1","FH","FIG4","FKRP","FKTN","FLI1","FLII","FLVCR2","FOXF1","FOXJ1","FOXP3","FOXRED1","FTO","GABBR2","GABRD","GAN","GAS2L2","GAS8","GBA1","GCDH","GET4","GFM2","GJB2","GJB6","GLB1","GLI3","GLUL","GMPPB","GNAO1","GNB2","GON7","GOSR2","GPC3","GPC4","GPSM2","GRIA3","GRIK2","GRIN1","GRM1","GRN","GTF2E2","GTF2H5","GTPBP2","H1-4","H3-3A","HDAC4","HDAC8","HECW2","HEPACAM","HERC1","HERC2","HIBCH","HK1","HNRNPK","HNRNPU","HRAS","HS6ST2","HSD17B4","HSPG2","HTRA2","HTT","HUWE1","HYDIN","HYLS1","IBA57","IDH1","IFIH1","IFT140","IFT172","IFT43","IFT80","IGF2","INPP5E","INTU","IQSEC2","ISCA1","ITPR1","JAM2","JAM3","KANK1","KANSL1","KAT8","KATNB1","KCNAB2","KCNJ6","KCNK4","KCNN2","KCNQ1","KCNQ1OT1","KCTD1","KDM6A","KIAA0586","KIAA0753","KIDINS220","KIF14","KIF1A","KIF21A","KIF26A","KIF5A","KIF7","KIFBP","KLHL15","KMT2C","KMT2D","KMT5B","KNL1","KNSTRN","KPNA3","KPTN","KRAS","KRT14","KRT5","L1CAM","LAMA1","LARGE1","LETM1","LIPT1","LIPT2","LMNB1","LMNB2","LONP1","LRRC32","LRRC56","LSM11","LUZP1","MAB21L1","MAD2L2","MAF","MAG","MAGEL2","MAN2C1","MAPKAPK5","MAPRE2","MARS2","MAST1","MBTPS2","MCIDAS","MCM7","MCPH1","MED12","MED25","MEF2C","METTL5","MFSD2A","MID1","MINPP1","MKRN3","MKS1","MMP23B","MOCS1","MOCS2","MPDU1","MPDZ","MPLKIP","MRE11","MRPS16","MSL3","MT-ATP6","MTHFR","MTHFS","MTM1","MTOR","MTRR","MUSK","MYMK","MYMX","MYOD1","MYORG","NAA10","NADK2","NAE1","NANS","NAXD","NAXE","NCAPD3","NCAPG2","NDE1","NDN","NDST1","NDUFA6","NDUFA8","NDUFB11","NDUFS2","NDUFS8","NEK1","NEK10","NEXMIF","NFIA","NFIB","NFIX","NGLY1","NHLRC2","NIPA1","NIPA2","NIPBL","NME5","NME8","NOTCH2NLC","NPAP1","NPHP3","NRAS","NRCAM","NSD1","NSD2","NUP188","NUP37","NUP88","OCA2","OCLN","OCRL","ODAD1","ODAD2","ODAD3","ODAD4","ODC1","OFD1","OGDH","OGDHL","OPHN1","OSGEP","OSTM1","OTUD5","OTUD6B","PAFAH1B1","PALB2","PARN","PAX6","PCDH19","PCNT","PDE2A","PDGFB","PDGFRB","PDHA1","PDHB","PDHX","PDPN","PGAP1","PGAP2","PGAP3","PHACTR1","PHC1","PHGDH","PI4KA","PIEZO2","PIGA","PIGB","PIGN","PIGO","PIGQ","PIK3CA","PIK3CD","PIK3R2","PLAA","PLCH1","PLG","PLOD3","PLPBP","PMM2","PMPCA","PNKP","POLR2A","POLR3A","POLRMT","POMGNT1","POMGNT2","POMK","POMT1","POMT2","PPFIBP1","PPP1CB","PPP1R21","PPP2CA","PPP2R1A","PPP2R5D","PRDM16","PRKCZ","PRNP","PSAP","PSAT1","PTCH1","PTDSS1","PTEN","PTPN23","PUF60","PUS3","PUS7","PWAR1","PWRN1","PYCR2","QARS1","RAB11B","RAB18","RAB3GAP1","RAB3GAP2","RAC1","RAC3","RAD21","RAD51","RAD51C","RAI1","RAPSN","RERE","RFWD3","RHOBTB2","RNASEH2A","RNASEH2B","RNASEH2C","RNASET2","RNF113A","RNF125","RNF213","RNU12","RNU4ATAC","RNU7-1","ROBO1","ROGDI","RPGR","RPGRIP1","RPGRIP1L","RPS6KA3","RRAS2","RSPH1","RSPH3","RSPH4A","RSPH9","RTEL1","RTTN","RXYLT1","SAMHD1","SARS1","SASS6","SATB1","SCO2","SEC31A","SEMA3E","SEPSECS","SETBP1","SETD2","SH2B1","SHANK3","SHH","SHMT2","SHPK","SHQ1","SIM1","SIN3A","SIN3B","SKI","SLC12A6","SLC18A3","SLC20A2","SLC25A1","SLC25A19","SLC31A1","SLC35A2","SLC39A8","SLC6A9","SLC9A6","SLITRK2","SLX4","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SMC1A","SMC3","SMG9","SMO","SNIP1","SNORD115-1","SNORD116-1","SNRPN","SON","SOX11","SOX4","SOX9","SPAG1","SPATA5L1","SPEF2","SPEN","SPG11","SPRED2","SPTBN1","STAC3","STIL","STK36","STRADA","SUCLA2","SUMF1","TAF1","TAF13","TAF8","TAOK1","TAPT1","TARS1","TBC1D24","TBC1D2B","TBCD","TBCE","TBCK","TBL1XR1","TCF4","TCTN1","TCTN2","TCTN3","TERT","TET3","TGDS","THOC2","THOC6","TIMMDC1","TINF2","TMCO1","TMEM107","TMEM138","TMEM147","TMEM216","TMEM231","TMEM237","TMEM67","TMTC3","TMX2","TNFRSF11A","TNNI3","TNPO2","TOE1","TPRKB","TRAF7","TRAIP","TRAPPC10","TRAPPC12","TRAPPC14","TRAPPC6B","TREM2","TREX1","TRIM37","TRIM71","TRIP13","TRPM3","TRPS1","TRPV6","TRRAP","TSEN15","TSEN2","TSEN34","TSEN54","TSFM","TTC12","TTC26","TTC5","TUBA1A","TUBB","TUBB2A","TUBB2B","TUBB3","TUBG1","TXNDC15","TYROBP","UBE2T","UBE3B","UBE4B","UBTF","UGDH","USP18","USP7","USP9X","VPS11","VPS13A","VPS35L","VPS37A","VPS51","VPS53","VRK1","VSX1","WAC","WARS1","WARS2","WASF1","WASHC5","WDR26","WDR35","WDR45B","WDR62","WDR73","WDR81","WLS","XPR1","XRCC2","XRCC4","YARS1","YIPF5","YME1L1","YWHAE","YY1","ZBTB11","ZBTB20","ZC4H2","ZEB2","ZIC1","ZIC2","ZMIZ1","ZMYND10","ZNF148","ZNF292","ZNF335","ZNF462","ZNF699","ZNHIT3","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CEREBRAL_CORTICAL_ATROPHY":{"collection":"C5:HPO","systematicName":"M35653","pmid":"","exactSource":"HP:0002120","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002120","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CEREBRAL_CORTICAL_ATROPHY","geneSymbols":["AARS1","ABCA7","ACD","ACO2","ACTB","ACTG1","ACY1","ADARB1","ADGRV1","AGTPBP1","ALDH18A1","ALG8","ALS2","AMPD2","AP1S2","AP4B1","AP4E1","AP4M1","AP4S1","APOE","APP","ARX","ATP13A2","ATP5F1A","ATP5F1D","ATP5F1E","ATP5MK","ATP8A2","ATPAF1","ATPAF2","ATRX","ATXN2","B3GLCT","B4GALNT1","BAZ1B","BCAP31","BCL7B","BICD2","BICRA","BMP4","BRAF","BRD4","BUB1","BUD23","CACNA1A","CACNA1E","CAMTA1","CARS1","CARS2","CASK","CASZ1","CDC42","CDH23","CHCHD10","CHMP2B","CIB2","CISD2","CIZ1","CLCN4","CLIP2","CLN5","CLP1","CNKSR2","COG1","CPA6","CPLX1","CTDP1","CTSF","CWC27","CYB5A","CYB5R3","DDB2","DGUOK","DKC1","DNAJC13","DNAJC30","DOCK7","DPAGT1","DYRK1A","EHMT1","EIF2B4","EIF4G1","EIF4H","ELN","ELOVL4","EMX2","EPG5","ERCC1","ERCC2","ERCC3","ERCC4","ERCC5","ERCC6","ESPN","EXOC7","EXOSC2","EXOSC3","EXOSC5","EXOSC8","EXOSC9","FA2H","FARS2","FBLN1","FGFR1","FKBP6","FKRP","FMR1","FRMPD4","GABRA5","GABRD","GBA1","GBA2","GDAP2","GET4","GIGYF2","GLYCTK","GMPPB","GNAQ","GNPTAB","GOLGA2","GON7","GPKOW","GRIA3","GRIA4","GRIN1","GRM7","GRN","GTF2E2","GTF2H5","GTF2I","GTF2IRD1","GTF2IRD2","GUF1","H3-3A","HDAC8","HERC1","HEXB","HIC1","HIVEP2","HNF1B","HRAS","HSD17B10","HSPG2","IARS2","IKBKG","JPH3","KCNAB2","KCNT1","KDM6A","KIF1A","KMT2D","KRAS","LARGE1","LIMK1","LIPT2","LRRK2","LUZP1","MAF","MAGEL2","MAN2B1","MAP2K1","MAP2K2","MAPT","MARS2","MBTPS2","MDH2","MECP2","MED11","MEF2C","METTL27","MINPP1","MLXIPL","MMACHC","MMADHC","MMP23B","MPLKIP","MT-ATP6","MT-ATP8","MT-CO1","MT-CO2","MT-CO3","MT-ND1","MT-ND4","MT-ND5","MT-ND6","MT-TF","MT-TH","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TW","MTRR","MUC1","MVK","MYO5A","MYO7A","NCF1","NDE1","NDN","NDP","NDUFA8","NEK1","NEXMIF","NIPBL","NOVA2","NUP133","NUS1","OCA2","OCLN","OPHN1","OTUD6B","PAFAH1B1","PARN","PARS2","PCDH15","PCDHGC4","PDE6D","PDPN","PDZD7","PEX1","PEX7","PGAP1","PHACTR1","PIGA","PIGL","PIGN","PIGS","PIGV","PLAA","PLK4","POGZ","POLG2","POLR3A","POLR3B","POMT1","POMT2","POU4F1","PPFIBP1","PPP2R2B","PRDM16","PRDX1","PRKCZ","PRNP","PRUNE1","PSEN1","PSEN2","PTDSS1","PUS3","PYCR2","RAB18","RAB3GAP1","RAB3GAP2","RAD21","RARS2","RERE","RFC2","RFT1","RHOBTB2","RMND1","RNASEH1","RNF113A","RNF125","RNU12","RNU4ATAC","RPS6KA3","RTEL1","SACS","SCYL2","SETBP1","SHH","SHQ1","SIX3","SKI","SLC25A15","SLC25A46","SLC35C1","SLC39A4","SLC39A8","SLC9A6","SLITRK2","SMC1A","SMC3","SNCA","SNRPN","SNX14","SORL1","SPATA5","SPEN","SPG11","SPG7","SPTAN1","SQSTM1","STUB1","STX1A","SYNJ1","TARS1","TBC1D20","TBCD","TBK1","TBL2","TCTN3","TERT","TINF2","TMCO1","TMEM106B","TMEM147","TMEM270","TMEM70","TOMM40","TRAK1","TRAPPC12","TRAPPC6B","TRAPPC9","TREM2","TRIM8","TRRAP","TSEN15","TSEN54","TTC19","TUBGCP4","TUBGCP6","TWNK","TYROBP","UBE3A","UBE4B","UBTF","UGP2","USH1C","USH1G","USH2A","VARS1","VCP","VPS13A","VPS13C","VPS35","VPS37D","VRK1","WFS1","WHRN","XPA","XPC","YWHAE","ZNHIT3","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_GENERALIZED_MYOCLONIC_SEIZURE":{"collection":"C5:HPO","systematicName":"M43270","pmid":"","exactSource":"HP:0002123","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002123","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENERALIZED_MYOCLONIC_SEIZURE","geneSymbols":["ABCC8","ADGRG1","ADGRV1","AFG3L2","ALDH5A1","ALDH7A1","AP2M1","APC2","ARX","ASAH1","BRAT1","BTD","BUB1B","CACNA1A","CARS2","CDKL5","CHD2","CILK1","CLCN2","CLN8","CPLX1","CUX2","DHDDS","DHFR","DNM1","DNM1L","DPAGT1","DPM1","DPM2","DYRK1A","EFHC1","ELOVL4","EPM2A","GABBR2","GABRA1","GABRB3","GABRD","GABRG2","GALC","GAMT","GBA1","GCK","GLB1","GPHN","GRIN1","GRN","HACE1","HCN1","HYMAI","IER3IP1","INS","KCNJ11","KCNT2","KCTD7","KNSTRN","LMNB2","LNPK","MAPK10","MBOAT7","MECP2","MFSD8","MT-ATP6","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND5","MT-ND6","MT-RNR1","MT-TF","MT-TH","MT-TI","MT-TK","MT-TL1","MT-TP","MT-TQ","MT-TS1","MT-TS2","MT-TV","MT-TW","MTHFR","NDE1","NDUFA1","NEU1","NEXMIF","NGLY1","NHLRC1","NSD1","NTNG1","NUS1","OPHN1","PAFAH1B1","PCDH12","PCDH19","PDX1","PHGDH","PIGA","PIGT","PIK3CD","PLAGL1","PRDM8","PRICKLE1","PSAP","PTEN","PTRH2","SAMD12","SCN1A","SCN1B","SCN2A","SCN9A","SDHA","SDHAF1","SDHB","SDHD","SEPSECS","SETD2","SIK1","SLC12A5","SLC25A15","SLC25A22","SLC2A1","SLC38A3","SLC6A1","SMC1A","SMS","SPATA5","STAT3","STX1B","STXBP1","SYNGAP1","TANGO2","TBC1D24","TRAPPC9","TRIT1","TSEN15","TSEN2","TSEN34","TSEN54"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_POLYMICROGYRIA":{"collection":"C5:HPO","systematicName":"M35655","pmid":"","exactSource":"HP:0002126","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002126","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POLYMICROGYRIA","geneSymbols":["ACTB","ACTG1","ADGRG1","AHI1","AKT3","ARHGAP31","ARHGEF9","ARL13B","ARL3","ARMC9","ATN1","ATP1A2","ATP1A3","ATP6V0A2","ATP6V1A","ATP6V1B2","ATP6V1E1","B3GALNT2","B4GAT1","B9D1","B9D2","BICD2","BMPER","C2CD3","CBY1","CCDC88A","CCND2","CDON","CEP104","CEP120","CEP41","CILK1","COL18A1","COL25A1","COL3A1","COL4A1","COL4A2","CPLANE1","CPT2","CRPPA","CSPP1","CUL4B","DAG1","DEPDC5","DHCR24","DHX37","DISC1","DISP1","DLL1","DOCK6","DYNC1H1","EIF2AK2","EML1","EOMES","ERCC1","ERMARD","FBXO28","FDFT1","FGF8","FH","FIG4","FKRP","FKTN","FLVCR2","FOXH1","GAS1","GLI2","GMPPB","GNB1","GPHN","GPSM2","GRIN1","HSD17B4","HYLS1","IBA57","IFT74","INPP5E","KAT5","KATNB1","KATNIP","KIAA0586","KIAA0753","KIF21A","KIF26A","KIF5C","KIFBP","KLHL15","LAGE3","LAMC3","LARGE1","LONP1","MAGEL2","MAN2C1","MAP1B","MAPK8IP3","MBOAT7","MECP2","MICU1","MKS1","MN1","MTOR","NANS","NDN","NEDD4L","NODAL","NPHP1","NPRL2","NPRL3","NSDHL","OCA2","OCLN","ODC1","OFD1","PAX6","PDE6D","PDHA1","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PHOX2A","PI4KA","PIBF1","PIGB","PIK3CA","PIK3R2","POLR3A","POMGNT1","POMGNT2","POMK","POMT1","POMT2","PPFIBP1","PPP1R12A","PTCH1","PTEN","RAB18","RAB3GAP1","RAB3GAP2","RAC1","RECQL4","RNU4ATAC","ROBO1","RPGRIP1L","RTTN","RXYLT1","SCN3A","SF3B4","SHH","SHMT2","SIN3A","SIX3","SLC5A6","SMO","SNAP29","SNRPN","SON","SRD5A3","SRPX2","STIL","SUFU","SUZ12","TBC1D20","TBC1D24","TCTN1","TCTN2","TCTN3","TDGF1","TGIF1","TMEM218","TMEM237","TMEM67","TMTC3","TMX2","TOGARAM1","TP53RK","TRMT10C","TRRAP","TUBA1A","TUBA8","TUBB","TUBB2B","TUBB3","TUFM","USP18","VPS4A","WDR62","WT1","ZEB2","ZIC2","ZNHIT3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_UPPER_MOTOR_NEURON_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M35656","pmid":"","exactSource":"HP:0002127","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002127","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_UPPER_MOTOR_NEURON_MORPHOLOGY","geneSymbols":["ALDH18A1","ALS2","CHCHD10","ERLIN2","FUS","GBE1","MATR3","PNPLA6","SPG7","SQSTM1","TARDBP","TBK1","TYROBP","VCP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_EPISODIC_ATAXIA":{"collection":"C5:HPO","systematicName":"M35657","pmid":"","exactSource":"HP:0002131","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002131","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EPISODIC_ATAXIA","geneSymbols":["ARX","ATP1A2","ATP1A3","CACNA1A","CACNB4","CASK","CDKL5","DMXL2","GNAO1","GRIN1","GRM7","KCNA1","KCNQ2","NEUROD2","NFIX","OTC","PDHA1","PIGP","PIGQ","PNKP","SCN1B","SCN2A","SIK1","SLC1A3","SLC25A22","SLC2A1","SLC32A1","SLC6A19","TPK1","TRIM8"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PORENCEPHALIC_CYST":{"collection":"C5:HPO","systematicName":"M35658","pmid":"","exactSource":"HP:0002132","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002132","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PORENCEPHALIC_CYST","geneSymbols":["ADAR","ARHGAP31","COL4A1","COL4A2","COLGALT1","CPLANE1","DLL4","DOCK6","EOGT","FGFR1","GPX4","HRAS","IFIH1","KIF1A","KRAS","LAMB1","LSM11","NOTCH1","NRAS","OFD1","PLOD3","RBPJ","RNASEH2A","RNASEH2B","RNASEH2C","RNU7-1","SAMHD1","SNRPB","TCTN3","TREX1","ZNHIT3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_STATUS_EPILEPTICUS":{"collection":"C5:HPO","systematicName":"M35659","pmid":"","exactSource":"HP:0002133","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002133","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_STATUS_EPILEPTICUS","geneSymbols":["AARS1","ABCC8","ACTL6B","ADGRV1","ADORA2A","AGO1","AKT3","ALDH4A1","ALDH5A1","ALDH7A1","AMACR","AP3B2","ARV1","ARX","ASAH1","ATP1A1","ATP1A2","ATP1A3","ATP5PO","ATP6V0A2","ATP6V1A","ATXN10","BCL10","BRAT1","BSCL2","CACNA1A","CACNA1B","CACNA1E","CACNA2D1","CACNB4","CAD","CARS1","CARS2","CCDC88A","CDK19","CDKN1A","CDKN1B","CDKN2B","CDKN2C","CELF2","CHD2","CILK1","CLCN2","CLN6","CLTC","CNKSR2","CNTNAP2","COG8","COQ2","COQ8A","COX10","COX7B","CTSD","CYFIP2","DALRD3","DEAF1","DHCR24","DHDDS","DIS3L2","DNM1","DNM1L","DTYMK","ECE1","EEF1A2","EFHC1","EHMT1","EPM2A","FBXO28","FGF12","FGF13","FH","FIG4","FZR1","GABBR2","GABRA1","GABRA2","GABRA5","GABRB2","GABRD","GABRG2","GET4","GLYCTK","GNB1","GOSR2","GPAA1","GRIA3","GRIA4","GRIN1","GRIN2A","GRIN2B","GRIN2D","GRM7","HCCS","HCN1","HNRNPU","IFNG","IQSEC1","ITPA","JRK","KCNA2","KCNB1","KCNC2","KCNJ11","KCNMA1","KCNQ2","KCNQ3","KCNT1","KCTD7","KIF11","LMNB2","MAST3","MECP2","MEN1","MICU1","MRM2","MTOR","NARS2","NDUFA6","NDUFA8","NDUFB11","NECAP1","NEXMIF","NHLRC1","NTRK2","NUS1","ODC1","OGDHL","PACS2","PARS2","PCDH19","PDE2A","PDSS2","PET100","PEX5","PGM2L1","PIGA","PIGS","PIK3CA","PLPBP","PNPO","POLG","PPP3CA","PRODH","PRRT2","PSAP","QARS1","RHOBTB2","RNU4ATAC","RRM2B","SATB1","SCN1A","SCN1B","SCN2A","SCN3A","SCN8A","SCN9A","SLC12A5","SLC13A5","SLC19A3","SLC1A2","SLC1A3","SLC25A12","SLC2A1","SLC38A3","SMARCA2","SMARCAL1","SON","ST3GAL5","STRADA","STX1B","STXBP1","SVBP","SYNGAP1","SYNJ1","SZT2","TBC1D20","TBC1D24","TBK1","TICAM1","TIMM50","TLR3","TRAF3","TRAK1","TRAPPC2L","TSC1","TSC2","TWNK","UBA5","UCP2","UNC93B1","UPB1","UQCC2","VAMP2","VARS1","VPS51","WDR4","WWOX","YWHAG"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_BASAL_GANGLIA_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M35660","pmid":"","exactSource":"HP:0002134","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002134","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BASAL_GANGLIA_MORPHOLOGY","geneSymbols":["ACVR1","ADAR","ADH1C","AGO1","AIFM1","ALG2","AP1S2","ASNS","ASPA","ATP13A2","ATR","ATXN2","ATXN3","ATXN8OS","AUH","BSCL2","C19orf12","CA2","CAMSAP1","CASR","CLPB","CNTNAP1","COASY","COQ8A","COX15","CP","CPT2","CSPP1","CYB5A","CYB5R3","CYP27A1","CYP2U1","DCX","DENND5A","DLAT","DNAJC19","DNM1L","EIF2AK2","ERCC3","ERCC4","ERCC6","ERCC8","ETHE1","EXOSC2","FA2H","FAM111A","FARS2","FASTKD2","FBXO7","FDXR","FOXP2","FTL","GATA3","GBA1","GCDH","GCH1","GFAP","GFM1","GJA1","GLB1","GLI3","GLUD2","GNA11","GNAS","GSX2","GTPBP2","GTPBP3","HIBCH","HSD17B10","HTRA1","HTT","IDH1","IFIH1","IMPDH2","ISG15","JAM2","JPH3","KCNQ2","KIAA0586","KMT2B","LONP1","LRPPRC","LRRK2","LSM11","MAPT","MECR","MFF","MICU1","MMUT","MRM2","MT-ATP6","MT-CO1","MT-CO2","MT-CO3","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND5","MT-ND6","MT-TF","MT-TH","MT-TK","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TT","MT-TV","MT-TW","MYORG","NADK2","NANS","NDE1","NDUFAF5","NDUFAF6","NDUFS1","NDUFS4","NEK1","NR4A2","NUDT2","NUP54","NUP62","OPA1","OPHN1","PANK2","PDE10A","PDE8B","PDGFB","PDGFRB","PDHA1","PDHX","PDSS2","PLA2G6","PNPT1","POLR2A","POLR3A","PRKN","PRNP","PSMB8","PSMG2","RAB39B","RANBP2","RFT1","RNASEH2A","RNASEH2B","RNASEH2C","RNU7-1","SAMHD1","SCO2","SLC19A3","SLC20A2","SLC25A46","SLC2A3","SLC30A10","SLC44A1","SLC46A1","SNCA","SNCAIP","SNORD118","SPG11","SUCLA2","SUCLG1","SYT1","TACO1","TBCE","TBCK","TBP","TIMM8A","TK2","TREM2","TREX1","TUBA1A","TUBB","TUBB2B","TUBB3","TYROBP","VPS11","VPS13A","VPS16","VPS41","VRK1","WDR45","XPR1","ZEB2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BASAL_GANGLIA_CALCIFICATION":{"collection":"C5:HPO","systematicName":"M35661","pmid":"","exactSource":"HP:0002135","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002135","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BASAL_GANGLIA_CALCIFICATION","geneSymbols":["ACVR1","AP1S2","CA2","CASR","CYP2U1","DENND5A","DNM1L","ERCC3","ERCC4","ERCC6","ERCC8","EXOSC2","FAM111A","GATA3","GJA1","GNA11","GNAS","IFIH1","ISG15","JAM2","LSM11","MT-CO1","MT-CO2","MT-CO3","MT-ND1","MT-ND4","MT-ND5","MT-ND6","MT-TF","MT-TH","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TW","MYORG","OPA1","PDGFB","PDGFRB","PSMB8","PSMG2","RAB39B","RNASEH2B","RNU7-1","SAMHD1","SLC20A2","SLC25A46","SLC46A1","SNORD118","TREM2","TREX1","TYROBP","XPR1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BROAD_BASED_GAIT":{"collection":"C5:HPO","systematicName":"M35662","pmid":"","exactSource":"HP:0002136","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002136","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BROAD_BASED_GAIT","geneSymbols":["ACTL6B","ADGRG1","AP5Z1","ATCAY","ATP10A","BCL11A","BCORL1","BICD2","CAD","CAMTA1","CARS1","CCDC88C","CDK10","CERT1","CHD3","CLTC","COL9A2","COPB2","COQ2","CUL4B","CWF19L1","DDX3X","DEAF1","DLAT","DNAJC12","DYRK1A","EBF3","EGR2","EXT2","FLVCR1","FNIP1","GALC","GBA1","GBA2","GNB2","GPT2","GTF2E2","GTPBP2","HACE1","HTT","ITPR1","KCND3","KMT2A","MAN1B1","MAP1B","MECP2","MED12","MPV17","MPZ","MTTP","NAT8L","NBEA","NDUFAF2","NKX2-1","NRXN1","NSUN2","OCA2","PACS2","PEX5","PIEZO2","PIGL","PLP1","PMP22","POLG","PPM1D","PPP1R15B","PRDM13","PRX","PURA","RAB11B","RAI1","RBM10","RFX7","RLIM","RNASEH1","RNF113A","RNU12","SATB2","SGCB","SGCG","SHANK3","SIM1","SLC6A8","SLC9A7","SMS","SNRPN","SNX14","SPTBN1","SPTBN2","SRCAP","TBC1D23","TBP","THRA","TKFC","TMEM106B","TMEM222","TOP3A","TPP1","TPR","TRAPPC6B","TRIM2","TRMT10A","TRPV4","TWNK","UBE3A","UROC1","VCP","VLDLR","WASF1","WDR26","WDR81","XRCC4","YWHAG","ZEB2","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SUBARACHNOID_HEMORRHAGE":{"collection":"C5:HPO","systematicName":"M35663","pmid":"","exactSource":"HP:0002138","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002138","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUBARACHNOID_HEMORRHAGE","geneSymbols":["ACTA2","ACVRL1","ANGPTL6","APP","CD109","COL3A1","DOCK8","ELN","ENG","F10","FBN1","FOXE3","GAA","GDF2","GP1BA","GP1BB","HEY2","ITGA2","ITGA2B","ITGB3","LOX","MAT2A","MFAP5","MYH11","MYLK","PRKG1","RASA1","SMAD2","SMAD3","SMAD4","STIM1","TGFB2","TGFB3","TGFBR1","TGFBR2","TGFBR3","THSD1","THSD4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ARRHINENCEPHALY":{"collection":"C5:HPO","systematicName":"M35664","pmid":"","exactSource":"HP:0002139","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002139","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ARRHINENCEPHALY","geneSymbols":["ADAR","ARVCF","ATP6V1B2","CHD7","COMT","CPLANE1","FANCB","FIG4","FUZ","GLI3","GP1BB","HIRA","HYLS1","IFIH1","JMJD1C","KIF14","KIF7","LSM11","RNASEH2A","RNASEH2B","RNASEH2C","RNU7-1","RREB1","SAMHD1","SEC24C","SF3B4","SMOC1","TBC1D24","TBX1","TCTN3","TREX1","UFD1","VAC14","VANGL1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_GAIT_IMBALANCE":{"collection":"C5:HPO","systematicName":"M35666","pmid":"","exactSource":"HP:0002141","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002141","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GAIT_IMBALANCE","geneSymbols":["ADGRG1","ALS2","ARL6","ATL1","ATL3","ATP5F1D","ATXN1","ATXN10","BAZ1B","BBS1","BCAS3","BCL7B","BUD23","CCDC28B","CHD4","CLIP2","DEAF1","DNAJC30","DNAJC6","EIF4H","ELN","ERLIN2","FKBP6","FLNC","FXN","GALT","GDAP2","GTF2I","GTF2IRD1","GTF2IRD2","HK1","HTRA2","HTT","KAT6A","LIMK1","LRRK2","MAPT","METTL27","MLXIPL","NCF1","NDUFA1","OCA2","PARK7","PIGG","PIK3R5","PINK1","PMP22","PODXL","PRKN","PTEN","PUS3","RFC2","RNASEH1","RRM2B","SETX","SLC2A3","SLC52A3","SNCA","SPEN","SPTLC1","SPTLC2","STX1A","SYNJ1","TAF1","TBL2","TELO2","TMEM270","TTBK2","UBE3A","UCHL1","VCP","VPS13C","VPS37D"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_SPINAL_CORD_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M35667","pmid":"","exactSource":"HP:0002143","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002143","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SPINAL_CORD_MORPHOLOGY","geneSymbols":["ABCA1","ABCD1","ACTA2","ACTB","ACVRL1","ACY1","AKT1","ALDH18A1","AMER1","APC","ARID1B","ARPC4","ARSB","ARSL","ARVCF","ATP6V1B2","ATXN1","ATXN2","ATXN3","B2M","B3GALT6","B3GLCT","B4GAT1","BAZ1B","BCL7B","BICD2","BMP2","BMS1","BRAF","BRCA1","BRCA2","BRIP1","BTD","BUD23","CCBE1","CCL2","CCM2","CCND1","CCNQ","CCT5","CDK13","CHN1","CHRNG","CLIP2","CLP1","COG4","COL18A1","COL2A1","COLEC10","COLEC11","COMP","COMT","COQ6","CPLX1","CREBBP","CTBP1","CTNNB1","CUL7","CYP27A1","CYP7B1","DACT1","DARS1","DARS2","DDHD2","DDR2","DKK1","DLK1","DLL3","DLL4","DNA2","DNAJC3","DNAJC30","EIF4H","ELN","ENG","EP300","ERCC4","EXT1","EXT2","EXTL3","FA2H","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FAR1","FBLN1","FBN1","FGFRL1","FIBP","FKBP6","FLI1","FLNA","FLNB","FLVCR1","FOXC2","FOXE1","FOXE3","FOXF1","FUZ","FXN","GALNS","GCLC","GDF3","GDF6","GFAP","GJB1","GJB2","GLB1","GLRX5","GNAS","GNPTAB","GP1BB","GTF2I","GTF2IRD1","GTF2IRD2","HAAO","HABP2","HBB","HES7","HEY2","HIRA","HMGA2","HMX1","HNRNPH1","HNRNPK","HRAS","IDS","IDUA","IKBKG","IL11RA","IRF6","ITGB4","JMJD1C","KANSL1","KCNH1","KDM1A","KIF1B","KIF22","KPNA3","KRIT1","LEMD3","LETM1","LFNG","LIG4","LIMK1","LMNB1","LMX1B","LOX","LYST","LZTR1","MAD2L2","MAFB","MAN2B1","MAP3K7","MASP1","MAT2A","MBTPS2","MEG3","MEOX1","MESP2","METTL27","MFAP5","MFN2","MINPP1","MLXIPL","MMACHC","MNX1","MORC2","MTHFD1","MTHFR","MTR","MTRR","MYH11","MYH3","MYLK","NAXE","NCAPG2","NCF1","NEFL","NEK9","NELFA","NEPRO","NF1","NF2","NFIA","NFIX","NMNAT1","NOTCH2","NOTCH2NLC","NOTCH3","NRAS","NSD2","NSUN2","PALB2","PAX3","PDCD10","PHEX","PHGDH","PI4KA","PIGG","PIK3CA","PLEC","PLP1","PNPLA6","POLA1","POLG","PORCN","PRKAR1B","PRKG1","PRMT7","PRPS1","PSAT1","PTCH1","PTDSS1","PTPN11","PUF60","RAB23","RAD51","RAD51C","RAF1","RAI1","RASA1","RBM8A","RECQL4","RELA","REPS1","RFC2","RFWD3","RIPPLY2","RMRP","RNASEH1","RORA","RPS19","RREB1","RRM2B","RTL1","RTN2","RUNX2","SALL1","SALL4","SEC24C","SETD2","SETX","SH2B1","SLC25A19","SLC26A2","SLC33A1","SLX4","SMAD2","SMAD3","SMAD4","SMARCB1","SNRPB","SOX9","SPARC","SPG11","SPG7","STX1A","SUPT16H","TBC1D24","TBL2","TBX1","TBX6","TBXT","TDP1","TGFB2","TGFB3","TGFBR1","TGFBR2","THSD4","TLR7","TMEM270","TNXB","TRAF7","TRAPPC14","TRIM36","TRPV4","TWNK","UBA2","UBAP1","UBE2T","UFD1","VANGL1","VANGL2","VHL","VPS37D","WASHC5","WBP11","XRCC2","ZFTA","ZIC1","ZMYM2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FRONTOTEMPORAL_DEMENTIA":{"collection":"C5:HPO","systematicName":"M35668","pmid":"","exactSource":"HP:0002145","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002145","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FRONTOTEMPORAL_DEMENTIA","geneSymbols":["ABCA7","APP","C9orf72","CCNF","CHCHD10","CHMP2B","CYLD","DCTN1","FUS","GRN","HNRNPA1","HNRNPA2B1","MAPT","PLA2G6","PRKAR1B","PSEN1","PSEN2","SORL1","SQSTM1","TARDBP","TBK1","TIA1","TMEM106B","TOMM40","TREM2","TUBA4A","UBQLN2","VCP","ZFYVE26"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPOPHOSPHATEMIA":{"collection":"C5:HPO","systematicName":"M35669","pmid":"","exactSource":"HP:0002148","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002148","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPHOSPHATEMIA","geneSymbols":["ABCC6","ALDOB","AP2S1","CACNA1S","CASR","CDC73","CLCN5","CLCN7","COL4A3","CTNS","CYP27B1","CYP2R1","CYP3A4","DMP1","EHHADH","ENPP1","FAH","FAM111A","FAM20C","FGF23","GABRA3","GATM","GCM2","GNAS","HNF4A","HRAS","INPPL1","KCNJ18","KRAS","MEN1","NAB2","NDUFAF6","NHERF1","NRAS","OCRL","PHEX","POLRMT","PTH1R","SLC2A2","SLC34A1","SLC34A3","SNX10","STAT6","TCIRG1","TNFSF11","VDR"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPERURICEMIA":{"collection":"C5:HPO","systematicName":"M41253","pmid":"","exactSource":"HP:0002149","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002149","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERURICEMIA","geneSymbols":["ACAT1","ALDOB","ALMS1","CLDN16","FBP1","G6PC1","HMGCL","HNF1B","HPRT1","LMAN1","MCFD2","MUC1","MYC","PFKM","PHKA2","PHKB","PPARG","PRPS1","PYGL","PYGM","REN","SARS2","SEC61A1","SH2B1","SLC37A4","TNFRSF11A","TNFRSF11B","UMOD"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INCREASED_SERUM_LACTATE":{"collection":"C5:HPO","systematicName":"M35671","pmid":"","exactSource":"HP:0002151","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002151","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_SERUM_LACTATE","geneSymbols":["AARS2","ACAD9","ACAT1","ACAT2","ADAMTS13","AGK","AIFM1","ALDH6A1","AMPD1","AMPD2","AMPD3","ATAD3A","ATP5F1A","ATPAF2","BCS1L","C1QBP","CA5A","CARS2","CDK5","CHCHD10","CLPB","COQ4","COQ8A","COQ9","COX10","COX11","COX14","COX20","COX4I1","COX5A","COX6A2","COX6B1","COX8A","CRAT","CYC1","CYP27A1","DARS2","DGUOK","DLD","DNAJC19","DNM1L","DTYMK","EARS2","ECHS1","FARS2","FASTKD2","FBXL4","FDX2","GFM1","GFM2","GLRX5","GOT2","GTPBP3","GYS2","HADHB","HIBCH","HMGCL","HPDL","HS6ST2","HSD17B10","HSPD1","HTRA2","ISCA1","ISCU","KARS1","LARS2","LDHA","LETM1","LIAS","LIPT1","LIPT2","LONP1","LRPPRC","LYRM7","MDH2","MECP2","MICOS13","MIPEP","MPC1","MRPL12","MRPL3","MRPL44","MRPS14","MRPS16","MRPS2","MRPS22","MRPS28","MRPS34","MRPS7","MT-ATP6","MT-CO1","MT-CO2","MT-CO3","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND5","MT-ND6","MT-TF","MT-TH","MT-TI","MT-TK","MT-TL1","MT-TL2","MT-TN","MT-TP","MT-TQ","MT-TS1","MT-TS2","MT-TV","MT-TW","MTFMT","MTO1","MTRFR","NADK2","NARS2","NAXD","NAXE","NDUFA1","NDUFA11","NDUFA12","NDUFA13","NDUFA6","NDUFA8","NDUFA9","NDUFAF1","NDUFAF4","NDUFAF6","NDUFB8","NDUFB9","NDUFC2","NDUFS1","NDUFS2","NDUFS3","NDUFS8","NDUFV1","NFS1","NFU1","NGLY1","NSUN3","OCRL","OGDH","PC","PDHA1","PDHX","PDP1","PDSS1","PDSS2","PET100","PET117","PHKG2","PITRM1","PLPBP","PMPCB","PNPLA8","PNPO","PNPT1","POLG","POLG2","POLRMT","PPCS","PRORP","PRSS12","PUS1","PYGL","RARS1","RARS2","RMND1","RNASEH1","RRM2B","SARS2","SCO1","SCO2","SDHA","SDHB","SERAC1","SFXN4","SLC25A10","SLC25A12","SLC25A26","SLC25A3","SLC25A4","SLC25A42","SLC31A1","SLC7A7","SOD1","STAT2","SUCLA2","SUCLG1","SURF1","SYNJ1","TANGO2","TARS2","TIMM22","TIMM50","TK2","TMEM126B","TMEM70","TPK1","TRMT10C","TRMT5","TRMU","TSFM","TTC26","TUFM","TWNK","TXN2","UPB1","UQCC2","UQCC3","UQCRB","UQCRC2","UQCRH","UQCRQ","WARS2","YARS1","YARS2","YME1L1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPERKALEMIA":{"collection":"C5:HPO","systematicName":"M35672","pmid":"","exactSource":"HP:0002153","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002153","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERKALEMIA","geneSymbols":["ABCB6","ALDOA","CA12","CACNA1S","CUL3","CYP11A1","CYP11B2","GABRA3","HSD3B2","INVS","KCNJ18","KLHL3","LPIN1","MC2R","MRAP","MT-CO1","MT-CO3","NFKB2","NNT","NR3C2","OBSCN","PAX2","PBX1","POLG2","POR","RYR1","SAMD9","SCN4A","SCNN1A","SCNN1B","SCNN1G","SLC2A1","SLC30A9","SLC4A2","STAR","TBX19","TXNRD2","WNK1","WNK4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPERTRIGLYCERIDEMIA":{"collection":"C5:HPO","systematicName":"M35673","pmid":"","exactSource":"HP:0002155","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002155","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERTRIGLYCERIDEMIA","geneSymbols":["ABCA1","ABHD5","ADCY3","AEBP1","AGL","AGPAT2","AKT2","ALMS1","APOA5","APOB","APOC2","APOE","BSCL2","CAV1","CAVIN1","CELA2A","CEP19","CIDEC","CREB3L3","CYP7A1","DEAF1","DEF6","DYRK1B","EMD","FARSA","FECH","FHL1","FLII","FOS","GK","GPD1","GPIHBP1","HAVCR2","IQSEC2","JAG1","LCAT","LDLRAP1","LEP","LEPR","LIPA","LIPC","LIPE","LMF1","LMNA","LPL","LRP6","LYST","MC4R","MCM10","MTX2","NSMCE2","PHKA2","PHKB","PHKG2","PIGH","PIGT","PIK3CG","PLIN1","PLVAP","PNPLA2","POLD1","POLR3A","PPARG","PRF1","PSMB10","PSMB4","PSMB8","PSMB9","PYGL","RAI1","RSPO1","SAR1B","SGPL1","SLC25A13","SLC29A3","SLC2A2","SLC37A4","SLC7A7","SMPD1","STX11","STXBP2","SYNE1","SYNE2","TMEM43","TNFRSF9","TTPA","UNC13D","WRN","XIAP","XRCC4","YARS1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HOMOCYSTINURIA":{"collection":"C5:HPO","systematicName":"M35674","pmid":"","exactSource":"HP:0002156","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002156","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HOMOCYSTINURIA","geneSymbols":["ABCD4","ASPH","CBS","HCFC1","LMBRD1","MMACHC","MMADHC","MTHFR","MTR","MTRR","PRDX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HEPARAN_SULFATE_EXCRETION_IN_URINE":{"collection":"C5:HPO","systematicName":"M35675","pmid":"","exactSource":"HP:0002159","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002159","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEPARAN_SULFATE_EXCRETION_IN_URINE","geneSymbols":["GNS","GUSB","HGSNAT","IDS","IDUA","NAGLU","NGLY1","SGSH","VPS33A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LOW_POSTERIOR_HAIRLINE":{"collection":"C5:HPO","systematicName":"M35677","pmid":"","exactSource":"HP:0002162","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002162","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOW_POSTERIOR_HAIRLINE","geneSymbols":["ABCC9","ACTB","ACTG1","AEBP1","AGPAT2","ALDOA","ALG12","ALG9","ANKRD11","APC","ARHGEF2","B3GAT3","BRAF","BRD4","BSCL2","CAV1","CAVIN1","CBL","CCDC22","CDH2","CDK13","CHN1","CHRNG","CHST3","CNOT3","CPLX1","CREBBP","CTBP1","EDEM3","EFNB1","EP300","FGFRL1","FOS","GDF3","GDF6","GNE","H3-3A","HDAC8","HNF1B","HUWE1","IGF1","INTU","IRX5","KCNJ8","KDM4B","KMT2A","KNSTRN","KRAS","LETM1","LZTR1","MADD","MAFB","MAP2K1","MAP2K2","MAPK1","MBD5","MEOX1","MRAS","MYH3","MYO18B","NANS","NELFA","NF1","NFIX","NIPBL","NOTCH3","NRAS","NSD2","PEPD","PGAP1","PHF8","PIGG","PIK3C2A","PIK3CD","PPARG","PPP1CB","PTPN11","RAB3GAP1","RAB3GAP2","RAD21","RAF1","RASA2","RIT1","RPS28","RRAS","RRAS2","SALL4","SCNM1","SHOC2","SLC25A24","SMARCA2","SMARCD1","SMC1A","SMC3","SOS1","SOS2","SPRED1","SPRED2","SRCAP","SRY","TBX15","TFAP2A","TMCO1","UBE2A","USB1","VPS33A","VPS51","WASHC5","WBP11","WNT4","XYLT2","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NAIL_DYSPLASIA":{"collection":"C5:HPO","systematicName":"M35678","pmid":"","exactSource":"HP:0002164","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002164","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NAIL_DYSPLASIA","geneSymbols":["AARS1","ABCA1","ALG3","ANAPC1","ANGPT2","ANTXR1","ARX","ATP2A2","ATP6V1B2","ATR","BHLHA9","BMP2","BMP4","CARS1","CDH1","CLEC7A","COL7A1","CPLX1","CTBP1","CTC1","CTNND1","CTSK","DKC1","DPM1","DVL1","DVL3","DYNC2LI1","ECE1","EDA","EDAR","EDARADD","EED","EFNB1","EOGT","ERCC2","ERCC3","EVC","EVC2","EXT2","EZH2","FAM111B","FERMT1","FGF10","FGFR2","FGFR3","FGFRL1","FHL1","FLNA","FLT4","FOXN1","FZD2","FZD6","GJA1","GJB2","GJB6","GJC2","GLI1","GLI3","GPC3","GPC4","GTF2E2","GTF2H5","H3-3B","HHAT","HLA-C","HOXC13","HPGD","HRAS","IFT43","IHH","IKBKG","IL11RA","IL17F","IL17RA","IL17RC","INSR","ITGB4","KCTD1","KRT1","KRT14","KRT16","KRT17","KRT5","KRT6A","KRT6B","KRT81","KRT83","KRT85","KRT86","LAMA3","LAMB3","LAMC2","LETM1","LMX1B","LPAR6","LRP4","MBTPS2","MMP1","MPLKIP","MSX1","NECTIN1","NFKB2","NSD1","NSD2","NTRK1","NXN","ORC1","PEX7","PHYH","PIEZO1","PIGV","PLCD1","PLEC","PLOD3","POC1A","POMP","POP1","PORCN","PRKACA","PRKACB","PTDSS1","RECQL","RECQL4","RIPK4","RLIM","RNF113A","RNF13","RNU4ATAC","ROR2","RPS6KA3","SATB2","SETBP1","SHANK3","SIN3A","SLC24A4","SLC39A4","SMARCD2","SOST","SREBF1","SRY","STIM1","STXBP1","SUZ12","TAF1","TARS1","TBC1D24","TCF4","TERC","TERT","TFAP2A","TGM1","TINF2","TP63","TRAF3IP2","TRPS1","TRPV3","TRRAP","UFC1","VEGFC","WDR35","WNT10A","WNT5A","WNT7A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_IMPAIRED_VIBRATION_SENSATION_IN_THE_LOWER_LIMBS":{"collection":"C5:HPO","systematicName":"M35679","pmid":"","exactSource":"HP:0002166","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002166","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRED_VIBRATION_SENSATION_IN_THE_LOWER_LIMBS","geneSymbols":["ABCD1","ALDH18A1","AMPD2","ARSI","ATL1","B4GALNT1","BSCL2","CACNA1G","CPT1C","CYP7B1","DARS2","ERLIN2","FAR1","FLRT1","FLVCR1","GBA2","GCH1","HARS1","HINT1","HSPD1","IMPDH2","KCND3","KIF5A","KLC2","KLHL9","KPNA3","MT-ATP6","NIPA1","NR4A2","PDK3","PDYN","PEX6","PMP22","POLR3A","PRKCG","REEP2","RTN2","SACS","SAMD9L","SCO2","SLC33A1","SPART","SPAST","SPG11","SPG7","SPTLC2","TDP1","UBAP1","UCHL1","VAMP1","VCP","WASHC5","WDR48","XK"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_SPEECH_OR_VOCALIZATION":{"collection":"C5:HPO","systematicName":"M47058","pmid":"","exactSource":"HP:0002167","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002167","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_SPEECH_OR_VOCALIZATION","geneSymbols":["AAAS","AARS1","AARS2","AASS","ABCA2","ABCA7","ABCB7","ABCD1","ABHD12","ABHD16A","ACAD8","ACADM","ACADS","ACBD5","ACOX1","ACOX2","ACSF3","ACSL4","ACTB","ACTG1","ACTL6B","ADA2","ADAMTS2","ADAMTSL2","ADAR","ADARB1","ADAT3","ADCY5","ADD3","ADGRG1","ADGRL1","ADH1C","ADK","ADNP","ADPRS","ADSL","AFF2","AFG3L2","AGA","AGO1","AGO2","AGTPBP1","AHDC1","AIFM1","AIMP1","AIMP2","AKT1","ALAD","ALDH18A1","ALDH3A2","ALDH4A1","ALDH5A1","ALDH7A1","ALDOA","ALG11","ALG12","ALG13","ALG14","ALG2","ALG9","ALMS1","ALS2","AMACR","AMER1","AMFR","AMMECR1","AMN","AMPD2","ANK3","ANKRD11","ANKRD17","ANO10","ANOS1","ANXA11","AP1G1","AP1S2","AP2M1","AP3B2","AP4B1","AP4E1","AP4M1","AP4S1","APC2","APOE","APP","APTX","AR","ARF1","ARFGEF1","ARG1","ARHGAP29","ARHGEF2","ARHGEF38","ARID1A","ARID1B","ARID2","ARL13B","ARL6","ARMC9","ARPC4","ARSA","ARV1","ARVCF","ARX","ASAH1","ASH1L","ASPA","ASPM","ASXL1","ASXL2","ASXL3","ATAD3A","ATCAY","ATG5","ATG7","ATL1","ATM","ATN1","ATP10A","ATP13A2","ATP1A1","ATP1A2","ATP1A3","ATP2B3","ATP5F1A","ATP5F1D","ATP5F1E","ATP5MK","ATP6AP2","ATP6V0A1","ATP6V0A2","ATP6V1A","ATP6V1B2","ATP6V1E1","ATP7B","ATP8A2","ATP9A","ATPAF1","ATPAF2","ATRX","ATXN1","ATXN10","ATXN2","ATXN3","ATXN7","ATXN8OS","AUH","AUTS2","B3GALNT2","B3GALT6","B4GALNT1","BAP1","BAZ1B","BBIP1","BBS1","BBS10","BBS12","BBS2","BBS4","BBS5","BBS7","BBS9","BCAS3","BCL11B","BCL7B","BCOR","BCORL1","BEAN1","BIN1","BLM","BLTP1","BMP4","BMPR1A","BMPR1B","BPTF","BRAF","BRAT1","BRCA1","BRD4","BRF1","BRPF1","BRWD3","BSCL2","BTK","BUD23","C12orf4","C19orf12","C2CD3","C9orf72","CA8","CACNA1A","CACNA1B","CACNA1C","CACNA1E","CACNA1G","CACNA1I","CACNA2D1","CACNA2D2","CACNB4","CAD","CAMK2A","CAMK2B","CAMK2G","CAMTA1","CAPN1","CARS1","CARS2","CASK","CASZ1","CBL","CC2D1A","CCDC103","CCDC141","CCDC174","CCDC22","CCDC28B","CCDC39","CCDC40","CCDC47","CCDC65","CCDC88A","CCDC88C","CCND2","CCNF","CCNK","CCNO","CDC42","CDH1","CDK10","CDK13","CDK19","CDKL5","CDKN1C","CDON","CELF2","CENPJ","CEP19","CEP290","CEP63","CERS1","CFAP221","CFAP298","CFAP300","CFAP418","CFAP74","CFH","CFHR1","CFHR3","CHAMP1","CHCHD10","CHD2","CHD3","CHD5","CHD7","CHD8","CHKA","CHKB","CHMP1A","CHMP2B","CHRNA1","CHRNB1","CHRNE","CHSY1","CIC","CIITA","CISD2","CIT","CKAP2L","CLCN3","CLCN4","CLDN11","CLIC2","CLIP2","CLN3","CLN5","CLN8","CLP1","CLPB","CLTC","CNKSR2","CNNM2","CNOT1","CNOT2","CNTNAP2","COA7","COA8","COASY","COBLL1","COG1","COG4","COG5","COG6","COG8","COL1A1","COL1A2","COL3A1","COLQ","COMT","COPB1","COQ2","COX20","COX7B","CP","CPLX1","CPT1A","CRADD","CRAT","CRBN","CREBBP","CRPPA","CSF1R","CSNK2A1","CSPP1","CSTB","CTBP1","CTC1","CTCF","CTNNA2","CTNNB1","CTNND2","CTSF","CUBN","CUL3","CUL4B","CUX1","CWC27","CWF19L1","CXCR4","CYFIP2","CYLD","CYP27A1","CYP7B1","DAB1","DAG1","DALRD3","DARS1","DARS2","DCAF17","DCC","DCLRE1B","DCPS","DCTN1","DCX","DDHD2","DDOST","DDX6","DEAF1","DEGS1","DENND5A","DEPDC5","DHDDS","DHPS","DHTKD1","DHX30","DIAPH1","DISP1","DLAT","DLG1","DLG3","DLK1","DLL1","DLX4","DMD","DMPK","DMXL2","DNAAF1","DNAAF11","DNAAF2","DNAAF3","DNAAF4","DNAAF5","DNAAF6","DNAH1","DNAH11","DNAH5","DNAH9","DNAI1","DNAI2","DNAJB13","DNAJB6","DNAJC12","DNAJC13","DNAJC30","DNAJC6","DNAL1","DNM1","DNM1L","DNMT3A","DOCK3","DOCK6","DOCK7","DOHH","DOLK","DPAGT1","DPF2","DPH5","DPM2","DPP9","DPYD","DPYS","DPYSL5","DRC1","DRD3","DUSP6","DYM","DYNC1H1","DYNC1I2","DYNC2I2","DYRK1A","EARS2","EBF3","EBP","EED","EEF1A2","EEF2","EFTUD2","EHMT1","EIF2AK1","EIF2AK2","EIF2B1","EIF2B2","EIF2B3","EIF2B4","EIF2S3","EIF3F","EIF4A3","EIF4G1","EIF4H","ELN","ELOVL1","ELOVL4","ELOVL5","ELP2","EMC1","EMC10","EN1","ENTPD1","EP300","EPCAM","EPM2A","EPRS1","ERBB3","ERCC2","ERCC3","ERCC4","ERCC5","ERCC8","ERF","ERLIN1","ERLIN2","ERMARD","EXOSC2","EXOSC3","EXOSC5","EXT2","EXTL3","EYA1","EZH2","FA2H","FAM111A","FAN1","FANCF","FAR1","FARS2","FAT2","FBLN1","FBXL3","FBXO11","FBXO28","FBXO7","FBXW11","FBXW7","FDXR","FEZF1","FGF12","FGF13","FGF14","FGF17","FGF8","FGFR1","FH","FIBP","FIG4","FKBP6","FKRP","FKTN","FLCN","FLG","FLII","FLNA","FLRT1","FLRT3","FMN2","FMR1","FOCAD","FOXG1","FOXH1","FOXI1","FOXJ1","FOXP1","FOXP2","FOXRED1","FRA10AC1","FRMD4A","FRMPD4","FRRS1L","FTCD","FTL","FTSJ1","FUS","FXN","FZR1","GABBR2","GABRA2","GABRA5","GABRB2","GABRD","GABRG2","GALC","GALE","GALNT2","GALT","GAMT","GAN","GAS1","GAS2L2","GAS8","GATA2","GATA4","GATAD2B","GATM","GBA1","GBA2","GBF1","GCDH","GCH1","GCLC","GDAP2","GDF5","GEMIN4","GEMIN5","GET4","GFAP","GFM2","GFPT1","GHR","GIGYF2","GIPC1","GJA1","GJA5","GJA8","GJB1","GJC2","GLB1","GLE1","GLI2","GLRA2","GLRX5","GLS","GLUD2","GLYCTK","GM2A","GMNN","GMPPA","GMPPB","GNAI1","GNAO1","GNAQ","GNAS","GNB1","GNB2","GNB5","GNE","GNPTAB","GNS","GOLGA2","GORAB","GOSR2","GOT2","GP1BB","GPAA1","GPC3","GPC4","GPR88","GPT2","GRB10","GRHL3","GRIA1","GRIA2","GRIA3","GRIA4","GRID2","GRIK2","GRIN1","GRIN2A","GRIN2B","GRIN2D","GRM1","GRN","GSN","GSS","GSX2","GTF2E2","GTF2H5","GTF2I","GTF2IRD1","GTF2IRD2","GUSB","H3-3A","H4C11","H4C5","HACE1","HAL","HBA1","HBA2","HCCS","HCN1","HCN4","HDAC4","HDAC8","HECW2","HEPACAM","HEPHL1","HERC1","HERC2","HESX1","HEXB","HGSNAT","HHAT","HID1","HIKESHI","HIRA","HIVEP2","HK1","HLA-B","HLA-DQB1","HMBS","HMGA2","HMGCL","HNMT","HNRNPA1","HNRNPA2B1","HNRNPH1","HNRNPH2","HNRNPK","HNRNPU","HOXA2","HOXB1","HPCA","HPRT1","HS2ST1","HS6ST1","HS6ST2","HSD17B10","HSD17B4","HSPG2","HTRA1","HTT","HUWE1","HYCC1","HYDIN","IARS1","IFIH1","IFNG","IFRD1","IFT172","IFT27","IFT74","IGF1R","IGF2","IL12B","IL17RD","INPP5E","INPP5K","INTS1","INTS8","INTU","IQSEC1","IQSEC2","IREB2","IRF2BPL","IRF6","ISCA2","ITPA","ITPR1","JAG1","JAG2","JAK2","JAM2","JMJD1C","JPH3","KANSL1","KARS1","KAT6A","KAT6B","KAT8","KCNA1","KCNA2","KCNA4","KCNAB2","KCNB1","KCNC2","KCNC3","KCND3","KCNH1","KCNJ10","KCNK4","KCNMA1","KCNN2","KCNQ5","KCTD17","KCTD7","KDM1A","KDM3B","KDM4B","KDM5B","KDM5C","KDM6A","KDM6B","KIAA0586","KIAA0753","KIDINS220","KIF14","KIF15","KIF1A","KIF1C","KIF4A","KIF5C","KLC2","KLHL15","KMT2A","KMT2B","KMT2C","KMT2D","KMT2E","KMT5B","KNL1","KPNA3","KPTN","KRAS","KYNU","L1CAM","L2HGDH","LAGE3","LAMA1","LARGE1","LAS1L","LEMD3","LGI1","LIG4","LIMK1","LINGO1","LINS1","LIPT2","LMAN2L","LMBRD2","LMNA","LMNB1","LMNB2","LMX1B","LNPK","LPIN1","LRP12","LRP5","LRPPRC","LRRC32","LRRC56","LRRK2","LSM11","LSS","LTBP4","LUZP1","LYRM7","LZTFL1","LZTR1","MAB21L1","MACF1","MADD","MAG","MAGEL2","MAN1B1","MAN2B1","MAN2C1","MANBA","MAP1B","MAP2K1","MAP2K2","MAPK1","MAPRE2","MAPT","MARS1","MARS2","MAST1","MATR3","MBD5","MBOAT7","MCIDAS","MCM3AP","MCOLN1","MCTP2","MDH2","MDM2","MECP2","MECR","MED12","MED12L","MED13","MED13L","MED23","MED25","MED27","MEF2C","MEG3","MEIS2","MESD","METTL27","METTL5","MFF","MFN2","MFSD2A","MFSD8","MICOS13","MICU1","MID1","MID2","MINPP1","MKKS","MKRN3","MKS1","MLH1","MLH3","MLX","MLXIPL","MMACHC","MME","MMP23B","MMUT","MN1","MORC2","MPDU1","MPL","MPLKIP","MRAS","MRE11","MRPL12","MRPS14","MRPS2","MRPS34","MSH2","MSH6","MSL3","MSTO1","MSX1","MT-ATP6","MT-ATP8","MT-CO1","MT-CO2","MT-CO3","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND5","MT-ND6","MT-TE","MT-TF","MT-TH","MT-TK","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TT","MT-TV","MT-TW","MTFMT","MTHFS","MTO1","MTOR","MTPAP","MTRFR","MTRR","MTTP","MTX2","MVK","MYH3","MYH7","MYO9A","MYORG","MYOT","MYT1L","NAA10","NAA15","NAA20","NACC1","NAGS","NALCN","NARS1","NARS2","NAXD","NAXE","NBAS","NBEA","NBN","NCAPD2","NCAPG2","NCDN","NCF1","NDNF","NDST1","NDUFA1","NDUFA13","NDUFA4","NDUFA6","NDUFA8","NDUFA9","NDUFAF5","NDUFAF6","NDUFB11","NDUFS1","NDUFS7","NDUFS8","NEB","NECAP1","NECTIN1","NEDD4L","NEFH","NEFL","NEK1","NEK10","NEMF","NEU1","NEXMIF","NF1","NF2","NFASC","NFE2L2","NFIB","NFIX","NGLY1","NHLRC1","NIPA1","NIPA2","NIPBL","NKX2-1","NKX6-2","NLGN3","NLGN4X","NME5","NME8","NODAL","NONO","NOP56","NOTCH2NLC","NOTCH3","NOVA2","NPAP1","NPC1","NPC2","NPHP1","NPPA","NPRL2","NPRL3","NR2F1","NR4A2","NRAS","NSD1","NSDHL","NSRP1","NSUN2","NTNG1","NTNG2","NTRK2","NUBPL","NUDT2","NUP107","NUP54","NUP62","NUS1","NUTM2B-AS1","NXN","OBSCN","OCA2","OCRL","ODAD1","ODAD2","ODAD3","ODAD4","ODC1","OFD1","OGDH","OPA1","OPA3","OPHN1","OPTN","ORAI1","ORC4","ORC6","OSGEP","OTOG","OTUD6B","OXR1","P4HB","PABPN1","PACS1","PACS2","PAK1","PAK3","PANK2","PARS2","PAX1","PAX6","PBX1","PCDH19","PCGF2","PCNA","PCNT","PCYT2","PDE10A","PDE2A","PDE4D","PDE8B","PDGFB","PDGFRA","PDGFRB","PDPN","PDYN","PEX1","PEX10","PEX12","PEX16","PEX2","PEX6","PFN1","PGAP1","PGAP2","PGAP3","PGK1","PGM2L1","PGM3","PHF21A","PHF8","PHKA2","PHKB","PHKG2","PI4KA","PIEZO2","PIGA","PIGC","PIGF","PIGG","PIGH","PIGM","PIGN","PIGO","PIGP","PIGS","PIGV","PIGW","PIK3C2A","PIK3CA","PIK3R1","PIK3R5","PLA2G6","PLAA","PLAG1","PLCH1","PLD3","PLEC","PLEKHG4","PLK4","PLP1","PLPBP","PMM2","PMPCA","PMPCB","PMS1","PMS2","PNKD","PNKP","PNPLA6","PNPLA8","PNPT1","POC1A","PODXL","POGZ","POLD1","POLG","POLG2","POLR1B","POLR1C","POLR1D","POLR3A","POLR3B","POLR3GL","POLR3K","POLRMT","POMGNT1","POMGNT2","POMK","POMT1","POMT2","POR","POT1","POU3F3","POU4F1","PPFIBP1","PPIL1","PPM1D","PPP1CB","PPP1R15B","PPP1R21","PPP2CA","PPP2R1A","PPP2R2B","PPP2R5D","PPP3CA","PPT1","PRDM16","PRDM8","PRDX3","PRICKLE1","PRKAR1B","PRKCG","PRKCZ","PRKD1","PRKRA","PRMT7","PRNP","PRODH","PROK2","PROKR2","PRPH","PRPS1","PRR12","PRRT2","PRUNE1","PSAP","PSEN1","PSEN2","PSMB1","PSMC1","PSMD12","PSMG2","PTCH1","PTEN","PTPN11","PTS","PUF60","PUM1","PURA","PUS3","PUS7","PWAR1","PWRN1","PYCR1","PYCR2","QRICH1","RAB11B","RAB18","RAB39B","RAB3GAP2","RAB5IF","RAC1","RAD21","RAF1","RAI1","RALA","RALGAPA1","RANBP2","RARS1","RARS2","RASA2","RBBP8","REEP1","REEP2","RELN","REPS1","RERE","RFC1","RFC2","RFX5","RFX7","RFXANK","RFXAP","RHOBTB2","RIC1","RILPL1","RIMS2","RIN2","RIT1","RLIM","RMND1","RNASEH1","RNASEH2A","RNASEH2B","RNASEH2C","RNASET2","RNF113A","RNF125","RNF170","RNF216","RNF220","RNU12","RNU7-1","ROGDI","RORA","RORB","RPGR","RPIA","RPL10","RPS20","RPS6KA3","RRAS","RRAS2","RREB1","RRM2B","RRP7A","RSPH1","RSPH3","RSPH4A","RSPH9","RSPRY1","RSRC1","RTL1","RTTN","RUBCN","RUSC2","RYR1","RYR3","SACS","SAMD9L","SAMHD1","SARDH","SASS6","SATB1","SATB2","SCAPER","SCARB2","SCLT1","SCN1A","SCN3A","SCN4A","SCN5A","SCN8A","SCNM1","SCO2","SCYL1","SDCCAG8","SDHA","SDHAF1","SDHB","SDHD","SEC23A","SEC24C","SEC24D","SEC31A","SELENOI","SELENON","SEMA3A","SEMA4A","SEMA5A","SEMA6B","SEPTIN9","SERAC1","SERPINH1","SERPINI1","SET","SETBP1","SETD1A","SETD1B","SETD2","SETD5","SETX","SF3B4","SFXN4","SGCB","SH2B1","SH3TC2","SHANK3","SHH","SHMT2","SHQ1","SHROOM4","SIAH1","SIGMAR1","SIK1","SIK3","SIL1","SIM1","SIN3A","SIX3","SKI","SLC12A2","SLC12A6","SLC13A3","SLC13A5","SLC16A2","SLC17A5","SLC18A2","SLC19A3","SLC1A2","SLC1A3","SLC1A4","SLC20A2","SLC25A12","SLC25A15","SLC25A36","SLC25A4","SLC25A42","SLC25A46","SLC26A4","SLC2A1","SLC2A3","SLC30A10","SLC30A9","SLC33A1","SLC35A1","SLC35A2","SLC35B2","SLC38A3","SLC39A14","SLC39A8","SLC44A1","SLC6A1","SLC6A17","SLC6A19","SLC6A3","SLC6A8","SLC7A6OS","SLC9A1","SLC9A6","SLC9A7","SLITRK2","SMAD6","SMARCA2","SMARCA4","SMARCAL1","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SMC1A","SMC3","SMG9","SMO","SMS","SNAP25","SNCA","SNCAIP","SNORD115-1","SNORD116-1","SNORD118","SNRPN","SNX14","SOBP","SOD1","SORL1","SOS1","SOS2","SOX10","SOX11","SOX4","SOX5","SOX6","SPAG1","SPARC","SPART","SPAST","SPATA5","SPEF2","SPEG","SPEN","SPG11","SPG21","SPG7","SPOP","SPR","SPRED1","SPRED2","SPRY4","SPTBN1","SPTBN2","SPTBN4","SPTLC1","SQSTM1","SRCAP","SRPX2","ST3GAL5","STAC3","STAG1","STAG2","STAT5B","STIL","STIM1","STK36","STRADA","STS","STT3A","STUB1","STX1A","STX1B","STXBP1","SUFU","SUOX","SUPT16H","SUZ12","SVBP","SYNE1","SYNGAP1","SYNJ1","SYT1","SYT14","SYT2","SZT2","TACO1","TACR3","TAF1","TAF2","TAF6","TAF8","TANC2","TANGO2","TAOK1","TARDBP","TARS1","TAT","TBC1D20","TBC1D23","TBC1D24","TBC1D7","TBCD","TBCE","TBCK","TBK1","TBL1XR1","TBL2","TBP","TBR1","TBX1","TBX4","TBXAS1","TCEAL1","TCF20","TCF4","TCOF1","TCTN2","TDGF1","TDO2","TDP1","TECPR2","TECR","TELO2","TENM3","TENT5A","TERT","TET3","TFAP2A","TFE3","TGFB1","TGFBR2","TGIF1","TGM6","TH","THAP1","THG1L","THOC2","THOC6","THPO","THRB","THUMPD1","TIA1","TIAM1","TICAM1","TIMM50","TIMM8A","TINF2","TK2","TKFC","TKT","TLK2","TLR3","TM4SF20","TMCO1","TMEM106B","TMEM147","TMEM163","TMEM222","TMEM231","TMEM240","TMEM270","TMEM63C","TMEM94","TMLHE","TMTC3","TNIK","TNNT1","TNPO2","TNR","TNRC6B","TOE1","TOGARAM1","TOMM40","TOP3A","TOR1A","TP53RK","TP63","TPK1","TPP1","TPRN","TRAF3","TRAF7","TRAK1","TRANK1","TRAPPC10","TRAPPC11","TRAPPC14","TRAPPC2L","TRAPPC6B","TRAPPC9","TREM2","TREX1","TRIM32","TRIM37","TRIM8","TRIO","TRIP12","TRIP4","TRIT1","TRMT1","TRMT10A","TRMT5","TRPM3","TRPS1","TRPV6","TRRAP","TSC1","TSC2","TSEN15","TSHR","TSPAN7","TSPOAP1","TTBK2","TTC12","TTC19","TTC5","TTC8","TTI2","TTN","TTPA","TTR","TUBA8","TUBB","TUBB2A","TUBB3","TUBB4A","TUBG1","TWIST1","TWIST2","TWNK","TYROBP","UBA1","UBA2","UBA5","UBAP1","UBB","UBE2A","UBE3A","UBE3B","UBE3C","UBE4A","UBE4B","UBQLN2","UBTF","UCHL1","UFC1","UFD1","UFM1","UFSP2","UGP2","UGT1A1","UNC80","UNC93B1","UPB1","UPF3B","UQCC2","UQCRQ","UROC1","USP27X","USP7","USP9X","VAC14","VAMP1","VAPB","VARS1","VCP","VLDLR","VPS11","VPS13A","VPS13B","VPS13D","VPS33A","VPS35","VPS35L","VPS37A","VPS37D","VPS41","VPS4A","VWA3B","WAC","WARS1","WARS2","WASF1","WASHC4","WASHC5","WDPCP","WDR11","WDR26","WDR37","WDR4","WDR45","WDR45B","WDR62","WDR73","WDR81","WFS1","WIPI2","WLS","WRN","WWOX","XK","XPR1","XRCC1","XRCC4","XYLT1","YARS1","YIF1B","YME1L1","YWHAG","YY1","ZBTB11","ZBTB18","ZBTB20","ZBTB7A","ZC4H2","ZDHHC9","ZEB2","ZFYVE26","ZIC2","ZMIZ1","ZMPSTE24","ZMYM2","ZMYND10","ZMYND11","ZNF142","ZNF148","ZNF292","ZNF407","ZNF462","ZNF592","ZNF711","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SCANNING_SPEECH":{"collection":"C5:HPO","systematicName":"M35681","pmid":"","exactSource":"HP:0002168","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002168","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SCANNING_SPEECH","geneSymbols":["ATXN1","ATXN10","CCDC88C","COQ2","CP","DAB1","GOSR2","ITPR1","PAX6","PLP1","PNPLA6","SACS","SLC25A15","TMEM240","TPP1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CLONUS":{"collection":"C5:HPO","systematicName":"M35682","pmid":"","exactSource":"HP:0002169","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002169","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CLONUS","geneSymbols":["AARS1","ABCB7","ABCD1","ADGRG1","ALS2","AMPD2","ANO10","ASNS","ATL1","ATP6AP2","BRAT1","CAMLG","CAPN1","CARS1","CAV1","CCDC88C","CCT5","CD40LG","CYP27A1","CYP7B1","DNM1","DTYMK","EMILIN1","ERLIN1","ERLIN2","FA2H","FGF13","FKRP","FUS","GALC","GBA2","GFM2","GMPPB","GOLGA2","HIKESHI","HTRA2","HTT","KCNQ2","KCNQ3","KCNT1","KDM1A","KIF1A","KIF1C","KIF5A","KLC2","KPNA3","LMNB1","MARS1","MED17","MICU1","MTRFR","MYL2","NADK2","NDP","NDUFS8","NIPA1","OCRL","OSTM1","PC","PET100","PEX16","PI4KA","PIGP","PIGT","PLA2G6","POMGNT1","POMK","POMT1","POMT2","POU3F4","PRPS1","PRUNE1","PSAP","PTS","RAB18","RAB3GAP2","REEP1","RNASEH1","RTN2","RUSC2","SAMD9L","SELENOI","SEPSECS","SETX","SIGMAR1","SLC16A2","SLC1A4","SLC25A15","SLC25A21","SLC2A3","SLC33A1","SLC39A14","SLC44A1","SLC52A3","SLC6A9","SMG9","SOD1","SPART","SPAST","SPG11","SPTBN1","SPTBN2","SPTLC1","STUB1","SYNE1","TANGO2","TCEAL1","TIMM50","TIMM8A","TRAK1","TSEN2","UBAP1","UCHL1","UFC1","USP8","VAC14","VCP","VPS37A","WASHC5","ZFYVE26","ZFYVE27"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INTRACRANIAL_HEMORRHAGE":{"collection":"C5:HPO","systematicName":"M35683","pmid":"","exactSource":"HP:0002170","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002170","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTRACRANIAL_HEMORRHAGE","geneSymbols":["ABCC6","ACAD9","ACTA1","ACTA2","ACVRL1","ADA2","AKT1","ALPL","ANGPTL6","APP","ATP7A","BAP1","BICD2","BRCC3","CACNA1D","CBS","CCM2","CD109","CD46","CFH","CFI","CLCN2","COL3A1","COL4A1","COL4A2","CPT2","CST3","CYP11B1","CYP11B2","CYP26C1","DHPS","DLST","DNM2","DNMT3A","DOCK8","DPAGT1","ELN","ENG","EPAS1","EPOR","ERCC6","ERCC8","EXT2","F10","F13A1","F13B","F2","F5","F7","F8","FBN1","FCGR2C","FGA","FGB","FGG","FH","FLNA","FN1","FOXE3","GAA","GATA2","GBA1","GCDH","GDF2","GGCX","GNAQ","GP1BA","GP1BB","HADHB","HELLPAR","HEY2","IKBKG","IPO8","ITGA2","ITGA2B","ITGB3","IVD","JAK2","KANSL1","KCNJ5","KIF1B","KRIT1","LMAN1","LMBRD1","LMNA","LMOD2","LOX","MARS2","MAT2A","MAX","MCFD2","MDH2","MFAP5","MMACHC","MMUT","MYH11","MYLK","NDE1","NF1","NF2","NFIA","NOTCH3","PCCA","PCCB","PDCD10","PDGFB","PET100","PIK3CA","PMM2","PRKG1","PROS1","PTEN","RASA1","RBM10","RET","RNF168","SAMD9","SDHA","SDHAF2","SDHB","SDHC","SDHD","SERPINE1","SERPINF2","SH2B3","SIN3A","SLC25A11","SMAD2","SMAD3","SMAD4","SMARCB1","SMARCE1","SMO","SNORD118","SPARC","STAT2","STIM1","STT3A","SUFU","TERT","TGFB2","TGFB3","TGFBR1","TGFBR2","TGFBR3","THSD1","THSD4","TMEM127","TMEM237","TRAF7","USP18","VHL","WAS","WIPF1","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_GLIOSIS":{"collection":"C5:HPO","systematicName":"M35684","pmid":"","exactSource":"HP:0002171","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002171","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GLIOSIS","geneSymbols":["ADAR","ADH1C","ADNP","AKT3","AP4M1","ARX","ATP6V1A","ATXN2","ATXN3","ATXN8OS","AVP","BCS1L","BRAT1","C9orf72","CHCHD10","CNTN2","COX15","CSF1R","CYP27A1","DNAJC13","DTYMK","DYRK1A","EHMT1","EIF2B1","EIF4G1","ERCC6","ETFA","ETFB","ETFDH","FARS2","FBXO7","FUS","GBA1","GDAP2","GIGYF2","GLS","GLUD2","GRN","HSD17B4","HTT","KARS1","KCNT1","KDM3B","KMT2C","L2HGDH","LMNB1","LONP1","LRPPRC","LRRK2","MAN2B1","MAPT","MOCS1","MOCS2","MT-ATP6","MT-TT","MTOR","NARS2","NAXD","NDUFS8","NGLY1","NR4A2","NUP54","NUP62","PAX2","PDHA1","PIGA","PIK3CA","PLA2G6","PLP1","PMPCA","POLG","PRKN","PRNP","PSEN1","RANBP2","SCO2","SERPINI1","SLC25A46","SNCA","SNCAIP","SQSTM1","TARDBP","TBCD","TBK1","TBP","TFG","THOC2","TLR3","TSEN54","TYROBP","UBQLN2","VCP","VPS35","VRK1","YY1","ZNF335"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_POSTURAL_INSTABILITY":{"collection":"C5:HPO","systematicName":"M35685","pmid":"","exactSource":"HP:0002172","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002172","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POSTURAL_INSTABILITY","geneSymbols":["ABCC6","ABCC9","ADAT3","ADH1C","ALDH18A1","ATN1","ATP13A2","ATP1A2","ATP1A3","ATXN2","ATXN3","ATXN8OS","CACNA1A","CACNA1C","CACNB4","CHCHD2","CLN5","COL4A1","COQ2","CSF1R","CXCR4","DDHD1","DNAJC13","DNAJC6","EIF4G1","ENPP1","ERCC1","ERCC4","ERCC6","ERCC8","EZH2","FAR1","FBXO7","GARS1","GBA1","GIGYF2","GLUD2","HTRA2","KCNA1","KCNC3","KCND3","KCNQ2","LCA5","LRAT","LRRK2","MAPT","MME","MT-TT","NF2","NIPA1","NIPA2","NPHP1","NR4A2","OPHN1","PARK7","PDGFB","PDGFRB","PINK1","PLA2G6","PMP22","PNKP","PODXL","POU3F3","PRKAR1B","PRKN","PRRT2","RAB39B","RFC1","RNASEH1","RPE65","RUBCN","SCN1A","SCN2A","SDHA","SLC20A2","SLC30A10","SNCA","SNCAIP","SPATA7","SPG7","STUB1","SYNJ1","TAF1","TBP","TIMM8A","TRPC3","TUBG1","UCHL1","VPS13C","VPS35"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPOGLYCEMIC_SEIZURES":{"collection":"C5:HPO","systematicName":"M35686","pmid":"","exactSource":"HP:0002173","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002173","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOGLYCEMIC_SEIZURES","geneSymbols":["ABCC8","AKT2","GCK","GLUD1","HADH","HNF1A","INSR","KCNJ11","MC2R","MRAP","NNT","PCSK1","POGZ","POMC","PROP1","SLC16A1","SLC25A36","SLC37A4","STAR","TANGO2","TBX19","TXNRD2","UCP2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_POSTURAL_TREMOR":{"collection":"C5:HPO","systematicName":"M35687","pmid":"","exactSource":"HP:0002174","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002174","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POSTURAL_TREMOR","geneSymbols":["ALDH18A1","ANO3","ATP13A2","ATXN1","ATXN2","BSCL2","CACNA1G","CARS2","COL6A3","COQ2","CYP7B1","DNAJC30","DRD3","FGF14","FMR1","FUS","GALT","GCH1","GRIK2","IMPDH2","ITPR1","KCND3","LMNB1","MFN2","MPZ","MT-ATP6","MT-CO1","MT-CO3","MT-CYB","MT-ND1","MT-ND2","MT-ND4","MT-ND4L","MT-ND5","MT-ND6","MYBPC1","NDRG1","NDUFS2","NIPA1","NOTCH2NLC","NPTX1","NR4A2","OPA3","PARK7","PDGFB","PIGA","PIK3R5","PLA2G6","PMP22","POLR3A","POLR3B","PPP2R2B","PRDX3","PRKRA","REEP2","RILPL1","SCARB2","SETX","SPG11","STUB1","TENM4","TH","TMEM240","TPP1","TSPOAP1","TUBB4A","UCHL1","VAPB"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SPINAL_CORD_COMPRESSION":{"collection":"C5:HPO","systematicName":"M35688","pmid":"","exactSource":"HP:0002176","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002176","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPINAL_CORD_COMPRESSION","geneSymbols":["AKT1","APC","ARSL","B2M","B3GALT6","CCND1","COG4","COL2A1","COMP","CREBBP","DDR2","DNA2","EP300","EXT1","EXT2","EXTL3","FLNB","FOXE1","GNAS","HABP2","HBB","IDS","IDUA","KIF1B","MINPP1","NEPRO","NFIX","PHEX","RMRP","SLC26A2","TRPV4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_OPISTHOTONUS":{"collection":"C5:HPO","systematicName":"M35689","pmid":"","exactSource":"HP:0002179","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002179","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OPISTHOTONUS","geneSymbols":["AASS","ADSL","ALG11","ALS2","ASPA","CARS2","CLPB","CRLF1","CYB5R3","DNM1","DTYMK","EXTL3","FUS","GALC","GBA1","GCDH","GLYCTK","GRIK2","GRIN1","HPRT1","KCNC2","KCNJ6","MCCC1","MCCC2","MOCS1","MOCS2","NDE1","NDUFA8","NFU1","OPA1","PAFAH1B1","PANK2","POU3F3","PSAP","PTS","SETBP1","SIGMAR1","SLC19A3","SLC39A14","SPG11","SPTLC1","TNR","TOE1","TSEN2","TSEN54","TUFM","UFC1","UGDH","VPS50","VPS53"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NEURODEGENERATION":{"collection":"C5:HPO","systematicName":"M35690","pmid":"","exactSource":"HP:0002180","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002180","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEURODEGENERATION","geneSymbols":["AARS2","ABCD1","ADAR","ANG","ANXA11","ATXN2","ATXN3","C19orf12","CCNF","CFAP410","CHCHD10","CHMP2B","COASY","COQ2","CSF1R","DAO","DCTN1","DLAT","EPHA4","ERBB4","ERCC6","FA2H","FIG4","FOLR1","FTL","FUS","GALC","GLE1","GLT8D1","GM2A","GUSB","HNRNPA1","HSD17B10","HTT","IDS","IDUA","IFIH1","LSM11","LYST","MAPT","MATR3","MFSD8","NAE1","NARS2","NAXD","NBN","NEFH","NEK1","OPTN","PANK2","PCNA","PDE8B","PFN1","PLA2G6","PON1","PON2","PON3","PPARGC1A","PRPH","RNASEH2A","RNASEH2B","RNASEH2C","RNU7-1","SAMHD1","SLC2A3","SOD1","SPTBN1","SQSTM1","TAF15","TANGO2","TARDBP","TBK1","TREM2","TREX1","TTC19","TXN2","UBQLN2","UBTF","UCHL1","UNC13A","VAPB","VCP","WDR45","ZBTB20"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CEREBRAL_EDEMA":{"collection":"C5:HPO","systematicName":"M35691","pmid":"","exactSource":"HP:0002181","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002181","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CEREBRAL_EDEMA","geneSymbols":["ACAD9","ACADM","ASL","ASS1","ATP1A2","BCKDHA","BCKDHB","C1QBP","CACNA1A","COX16","CPS1","CPSF3","CPT2","DBT","KCNQ2","LAMA2","LIAS","NAXD","NAXE","NDUFS4","OTC","PRRT2","RANBP2","SCN1A","SLC25A13","SMS","TBK1","TICAM1","TLR3","TRAF3","UNC93B1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PHONOPHOBIA":{"collection":"C5:HPO","systematicName":"M35692","pmid":"","exactSource":"HP:0002183","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002183","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PHONOPHOBIA","geneSymbols":["BAZ1B","BCL7B","BUD23","CLIP2","CREBBP","DNAJC30","EDNRA","EIF4H","ELN","EP300","ESR1","FKBP6","GTF2I","GTF2IRD1","GTF2IRD2","LIMK1","METTL27","MLXIPL","NCF1","RFC2","SCN1A","SLC1A3","STX1A","TBL2","TMEM270","TNF","VPS37D"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NEUROFIBRILLARY_TANGLES":{"collection":"C5:HPO","systematicName":"M35693","pmid":"","exactSource":"HP:0002185","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002185","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEUROFIBRILLARY_TANGLES","geneSymbols":["ABCA7","APOE","APP","CHMP2B","CYLD","GRN","ITM2B","MAPT","MPO","NOS3","NPC1","NPC2","PLA2G6","PLAU","PRNP","PSEN1","PSEN2","SORL1","TMEM106B","TOMM40","TREM2","VCP","VPS13C"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APRAXIA":{"collection":"C5:HPO","systematicName":"M35694","pmid":"","exactSource":"HP:0002186","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002186","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APRAXIA","geneSymbols":["AARS2","ABCA7","ABCC8","ABCD1","ADGRG1","AFG3L2","AHI1","APOE","APP","APTX","ARL13B","ARL3","ARMC9","ARPC4","ATP13A2","ATP1A2","ATP1A3","ATP6AP2","ATXN2","B9D1","B9D2","BCR","BLTP1","BRAF","C9orf72","CACNA1A","CACNA1G","CBY1","CC2D2A","CDKL5","CDON","CEP104","CEP120","CEP290","CEP41","CHCHD10","CHD1","CHD3","CHMP2B","CLTC","CPLANE1","CRKL","CSF1R","CSPP1","CWF19L1","DDOST","DISP1","DLAT","DLL1","DMPK","DNM1L","EBF3","EPM2A","EXOSC3","FA2H","FGF8","FGFR1","FOXG1","FOXH1","FOXP1","FOXP2","FRRS1L","FUS","GABBR2","GALK1","GALT","GAS1","GBA1","GCK","GLI2","GPAA1","GRID2","GRIN2A","GRN","H4C11","HECTD4","HTRA1","HYLS1","IFT172","IFT74","INPP5E","INS","ITPR1","KANSL1","KATNIP","KCNH1","KCNJ11","KDM1A","KDM6B","KIAA0586","KIAA0753","LAMA1","MAPK1","MAPT","MAST1","MECP2","MED13","MKS1","MRE11","MYO9A","NGLY1","NHLRC1","NKX2-1","NODAL","NONO","NPHP1","NPTX1","NTNG1","OFD1","PACS1","PANK2","PDE6D","PDX1","PEX10","PEX2","PEX6","PGAP2","PGAP3","PI4KA","PIBF1","PIGL","PIGO","PIGV","PIGW","PIGY","PIK3R5","PLA2G6","PLCH1","PLP1","PMPCA","PNKP","PNPT1","POU4F1","PRKAR1B","PRNP","PSEN1","PSEN2","PTCH1","PTEN","PURA","RAI1","RNF135","RORA","RPGRIP1L","SETX","SH2B1","SHH","SIX3","SLC1A3","SLC25A15","SLC2A1","SLC30A9","SLC6A8","SMC1A","SMPD1","SNX14","SORL1","SOX3","SPART","SPG21","SPR","SQSTM1","SRCAP","SRPX2","STAG2","STAT3","STIL","STUB1","SUFU","SYNJ1","TARDBP","TBK1","TBP","TCTN1","TCTN2","TCTN3","TDGF1","TGIF1","TIMM8A","TMEM106B","TMEM107","TMEM138","TMEM216","TMEM218","TMEM231","TMEM237","TMEM67","TNR","TOE1","TOGARAM1","TOMM40","TPP1","TRAPPC11","TREM2","TREX1","TTC19","TUBA1A","TUBB2B","TUBB3","TUBB4A","TYROBP","UBE3A","UFC1","USP7","VCP","VPS11","XRCC1","XRCC4","YME1L1","ZC4H2","ZIC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INTELLECTUAL_DISABILITY_PROFOUND":{"collection":"C5:HPO","systematicName":"M35695","pmid":"","exactSource":"HP:0002187","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002187","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTELLECTUAL_DISABILITY_PROFOUND","geneSymbols":["ADAM22","ADAR","AIMP2","AP1S2","ARV1","ASXL1","ASXL3","ATIC","ATP6V0A2","ATP6V1A","ATP6V1E1","BUB1B","CACNA2D1","CCDC88A","CDKL5","CLIC2","CNPY3","CRPPA","DIAPH1","DMXL2","DPH5","DPM3","DPYD","ELOVL4","EMC1","ERCC6","EXOSC5","FAR1","FGF12","FGFR3","FH","FKRP","FKTN","GAD1","GRIN1","GUF1","HSPD1","IDS","IER3IP1","IFIH1","KCNJ6","LARGE1","LONP1","LSM11","MECP2","MED23","NACC1","NAPB","NDE1","NGLY1","NSF","NUP133","OCLN","OFD1","P4HTM","PAFAH1B1","PCDH12","PCDH19","PDHA1","PIGG","PIGP","PIGU","PIK3R2","POMGNT1","POMT1","POMT2","PRPS1","PRUNE1","PUS3","RAB18","RNASEH2A","RNASEH2B","RNASEH2C","RNF113A","RNF13","RNU7-1","SAMHD1","SCN1A","SCN8A","SEPSECS","SETBP1","SETD1B","SLC16A2","SLC1A2","SLC39A8","SLC9A6","SMS","SPTAN1","ST3GAL3","STRA6","STXBP1","SYNJ1","TBC1D20","TBC1D2B","TBCD","TRAPPC4","TREX1","UBTF","UGP2","UNC80","VARS1","VPS53","WARS2","WASHC4","WDR45B","ZNHIT3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DELAYED_CNS_MYELINATION":{"collection":"C5:HPO","systematicName":"M35696","pmid":"","exactSource":"HP:0002188","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002188","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DELAYED_CNS_MYELINATION","geneSymbols":["AARS1","ACTL6B","ACY1","ADARB1","ADAT3","AHDC1","AIFM1","ALDH5A1","ALDH6A1","ALDH7A1","ALG13","ALG14","ALG2","ALG9","AP3D1","ARF1","ARID1B","ARNT2","ARX","ASH1L","ATP1A3","ATP6AP2","ATP9A","BCS1L","BMP4","BRAT1","C18orf32","CACNA1I","CARS1","CDC40","CDK19","CHAMP1","CLCN3","CLCN7","CLPB","CLTC","CLTCL1","CNOT3","COPB2","CTNNB1","CUL3","D2HGDH","DDX6","DHX30","DHX37","DNM1L","DOHH","EARS2","EIF2AK2","ELOVL4","EXOC8","EXOSC1","EXOSC2","EZH2","FANCB","FANCL","FAR1","FBXL4","FBXO28","FCSK","FOCAD","FOXP1","FRMD5","FRMPD4","FZR1","GABRG2","GEMIN4","GET4","GLS","GLYCTK","GNAO1","GNB2","GOLGA2","GRIK2","GTF2H5","H4C5","HCFC1","HIKESHI","HS2ST1","IER3IP1","ITPA","KCNC2","KCNN2","KCNT1","KDM1A","KIDINS220","KIF5A","LIPT1","LIPT2","LMX1B","MADD","MDH2","MED17","MLYCD","MMUT","MORC2","MTHFS","NACC1","NADK2","NAE1","NARS1","NCDN","NEDD4L","NEUROD2","NGLY1","NMNAT1","NRCAM","NRROS","NUP133","NUP188","PEX7","PGAP1","PHACTR1","PIBF1","PIGS","PIGU","PKDCC","PLPBP","POGZ","POLR2A","POLR3B","POU3F3","PPIL1","PPP2CA","PPP2R1A","PPP3CA","PRMT7","PRUNE1","PURA","RAB11B","RAB3GAP1","RBM8A","RERE","RFX7","RHOBTB2","RNF13","RNU7-1","SETD1A","SHANK3","SIN3A","SLC12A5","SLC16A2","SLC1A2","SLC1A4","SLC2A1","SLC35A2","SLC35B2","SLC6A1","SMG9","SMPD1","SPATA5","STXBP1","TAF13","TAF2","TBC1D24","TGFB1","TIMM22","TKFC","TMEM106B","TMEM147","TMEM163","TMEM240","TMEM63A","TNPO2","TNR","TPR","TRAPPC2L","TRIM8","TRMT5","TRNT1","TRRAP","TXN2","UBA5","UFC1","UGDH","UPB1","VPS11","VPS33A","WARS1","WARS2","YME1L1","YRDC","YY1","ZC4H2","ZMIZ1","ZNF148","ZNF335","ZNF526"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CHOROID_PLEXUS_CYST":{"collection":"C5:HPO","systematicName":"M35697","pmid":"","exactSource":"HP:0002190","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002190","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHOROID_PLEXUS_CYST","geneSymbols":["EXOC8","FH","FOXF1","IFT43","NEDD4L","NPHP3","PHGDH","SETBP1","ZBTB18","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PROGRESSIVE_SPASTICITY":{"collection":"C5:HPO","systematicName":"M35698","pmid":"","exactSource":"HP:0002191","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002191","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROGRESSIVE_SPASTICITY","geneSymbols":["ACP5","ARG1","ARSA","ATP13A2","CTNNB1","DARS2","DEGS1","FA2H","GALC","GJC2","GLRX5","GM2A","HSPD1","MECP2","MSL3","NADK2","NKX6-2","OPA1","PAFAH1B1","PLA2G6","PLAA","PLP1","POLG","PSAP","RPS6KA3","SELENOI","SPG11","SPTBN1","TAF8","TBCD","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DELAYED_GROSS_MOTOR_DEVELOPMENT":{"collection":"C5:HPO","systematicName":"M35700","pmid":"","exactSource":"HP:0002194","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002194","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DELAYED_GROSS_MOTOR_DEVELOPMENT","geneSymbols":["ABCA2","ACTA1","ACTN2","ADARB1","ADCY5","ADGRL1","AGO1","AGRN","AHDC1","AHI1","AK9","ALG12","ALMS1","ALS2","AMN","AMPD2","AP1S2","AP3B2","AP4B1","AP4E1","AP4S1","APC2","ARID1B","ARL13B","ASXL3","ATG5","ATG7","ATP10A","ATP1A1","ATP6V0A1","ATP6V1A","BCAS3","BCL11A","BCL11B","BCORL1","BIN1","BMP1","BRAT1","BRPF1","BSND","CACNA1C","CACNA1G","CADM3","CAMK2A","CARS1","CASK","CCBE1","CCDC134","CCDC22","CCNK","CDC40","CDH2","CDK13","CDKL5","CELF2","CFL2","CHAMP1","CHD3","CHKA","CHMP1A","CHRNA1","CHRNB1","CHRND","CHRNE","CHST14","CHST3","CIT","CLCN3","CLCN7","CLCNKA","CLCNKB","CLDN11","CLP1","CLPB","CNKSR2","CNOT3","CNTNAP2","COASY","COG1","COL12A1","COL13A1","COL1A1","COL1A2","COL25A1","COL2A1","COL3A1","COPB1","CPLX1","CRBN","CREBBP","CSNK2A1","CSNK2B","CTBP1","CTNNA2","CTNNB1","CUBN","CUL3","CWC27","CYP2U1","CYP3A4","DAG1","DCPS","DDOST","DHPS","DHX30","DLAT","DLK1","DMD","DNAJC19","DNASE2","DNM2","DOCK3","DOK7","DOLK","DPF2","DPH2","DPM3","DPYSL5","DSE","DYNC1H1","DYNC1I2","EBF3","EHMT1","EIF2AK1","EIF2B4","EIF3F","EP300","ERLIN2","EXOC6B","EXTL3","FAR1","FASTKD2","FBLN1","FBXL3","FBXO11","FDXR","FGF3","FIG4","FITM2","FKBP14","FKRP","FLRT1","FLVCR1","FNIP1","FOXG1","FOXP1","FRMPD4","FTSJ1","FUCA1","FUS","GAA","GABBR2","GALE","GALNS","GALNT2","GARS1","GET4","GJA1","GJC2","GLS","GNAI1","GNPTAB","GRIA1","GRIA4","GRIK2","GRIN1","GRIN2B","H3-3A","HARS1","HDAC4","HECW2","HERC2","HIVEP2","HK1","HNRNPK","HOXA1","HS6ST2","HUWE1","HYCC1","IFT27","INPP5E","IQSEC1","ITPR1","JAG1","KARS1","KAT6A","KAT8","KCNA4","KCNK4","KDM1A","KDM3B","KDM4B","KDM5B","KIAA0753","KIDINS220","KIF14","KIF21A","KLC2","KLHL15","KMT2A","KMT2C","KMT2E","KPNA3","KPTN","KY","LAMA2","LARGE1","LARS1","LBR","LMNB1","LMNB2","LNPK","LRP4","LRP5","LRRC32","LSS","MACF1","MAGEL2","MAPK8IP3","MARS1","MBD5","MBOAT7","MBTPS1","MCM3AP","MDH2","MECP2","MECR","MED13","MEF2C","MEG3","MEGF8","MESD","MFN2","MID1","MINPP1","MKS1","MORC2","MPZ","MRAS","MRPS14","MRPS25","MSL3","MT-TE","MTMR14","MTPAP","MUSK","MYF6","MYH7","MYO9A","MYT1L","NAA10","NARS1","NAT8L","NBEA","NCAPG2","NCDN","NDST1","NDUFA1","NDUFA12","NDUFA8","NEDD4L","NEUROD2","NEXMIF","NFASC","NFIA","NFIX","NGLY1","NMNAT1","NONO","NPHP1","NTNG1","NUBPL","NUDT2","ODC1","OGDH","OPHN1","OTUD6B","P4HTM","PACS2","PAFAH1B1","PAK1","PAK3","PCYT2","PDE10A","PGAP1","PGAP3","PGM2L1","PHEX","PHKA2","PHKB","PHKG2","PHOX2A","PI4KA","PIEZO2","PIGC","PIGG","PIGO","PLEC","PLOD1","PLP1","PMPCA","PNP","PNPLA2","POLR1C","POLR2A","POLR3B","POLR3K","POMK","POMT1","POMT2","PPP2CA","PPP2R1A","PPP2R5D","PRIM1","PRMT7","PTEN","PUS7","RAB11B","RAB3GAP1","RAB3GAP2","RAD51","RAI1","RALA","RAPSN","RBL2","RBPJ","RNU12","ROBO3","ROGDI","RORA","RPL10","RTL1","RUBCN","RUSC2","RYR1","RYR3","SATB1","SCN2A","SCN4A","SDHB","SELENOI","SELENON","SEMA6B","SET","SETD5","SHMT2","SHOC2","SIGMAR1","SIK3","SLC12A2","SLC16A2","SLC18A2","SLC25A1","SLC25A12","SLC25A42","SLC31A1","SLC37A4","SLC39A8","SLC5A7","SLC6A3","SLC9A1","SLC9A7","SMARCA2","SMARCD1","SMC1A","SMPD1","SNAP25","SNRPN","SNX14","SON","SOX4","SPARC","SPG11","SPOP","SPTBN4","SPTLC1","SRCAP","STAG2","SUCLA2","SUPT16H","SYNE1","SYT1","TAF1","TAF8","TANGO2","TBR1","TCF20","TET3","TFG","TGFB3","TIMM50","TK2","TMEM106B","TMEM147","TMEM163","TMEM222","TMEM63A","TMEM63C","TMEM94","TMTC3","TNFRSF11B","TNNT1","TNPO3","TNRC6B","TRAPPC10","TRAPPC6B","TRAPPC9","TRIM2","TRIM8","TRIO","TRIT1","TRMT1","TRMU","TRNT1","TRPM3","TRRAP","TSEN15","TTC5","TTI2","TTN","TUBA1A","TUBB2B","TUBB3","UBE2A","UBE3A","UGDH","VAMP1","VLDLR","VPS35L","VPS51","WASF1","WASHC4","WDR26","WDR4","WDR45","WDR81","WLS","XYLT1","YARS1","YIF1B","YY1","ZBTB11","ZC4H2","ZEB2","ZNF142","ZNF148","ZNF407","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DYSGENESIS_OF_THE_CEREBELLAR_VERMIS":{"collection":"C5:HPO","systematicName":"M35701","pmid":"","exactSource":"HP:0002195","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002195","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DYSGENESIS_OF_THE_CEREBELLAR_VERMIS","geneSymbols":["CSPP1","INPP5E","KIAA0586","KIAA0753","ODC1","RAC1","TMEM216"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MYELOPATHY":{"collection":"C5:HPO","systematicName":"M35702","pmid":"","exactSource":"HP:0002196","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002196","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MYELOPATHY","geneSymbols":["ABCD1","ARSB","BTD","COL2A1","CYP27A1","DKK1","EXT1","EXT2","GALNS","GLB1","GNPTAB","NAXE","NF2","NMNAT1","RASA1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_GENERALIZED_ONSET_SEIZURE":{"collection":"C5:HPO","systematicName":"M35703","pmid":"","exactSource":"HP:0002197","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002197","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENERALIZED_ONSET_SEIZURE","geneSymbols":["AARS1","ABCC8","ACSF3","ADGRG1","ADGRV1","ADNP","ADPRS","ADRA2B","AFF3","AFG3L2","AIFM1","ALDH4A1","ALDH5A1","ALDH7A1","ALMS1","ANO10","AP2M1","APC2","ARHGEF9","ARX","ASAH1","ATAD3A","ATP1A1","ATP1A3","ATXN10","AVPR2","BRAT1","BTD","BUB1B","CACNA1A","CACNA1H","CACNA2D1","CACNB4","CAMK2A","CAMTA1","CARS1","CARS2","CASK","CDK13","CDKL5","CEP85L","CHD2","CIC","CILK1","CLCN2","CLCN4","CLN5","CLN8","CLPB","CNTN2","CNTNAP2","COG2","COL3A1","COQ5","COQ8A","COX8A","CPLX1","CSTB","CTNND2","CUX2","DCX","DEPDC5","DHDDS","DHFR","DMXL2","DNM1","DNM1L","DOCK7","DOHH","DPAGT1","DPM1","DPM2","DPM3","DYRK1A","ECM1","EEF1A2","EFHC1","EHMT1","ELOVL4","EPM2A","ERCC2","ERCC3","EXOC8","EXTL3","EZH2","FAR1","FBXO28","FGFR3","FRRS1L","FTL","FZR1","GABBR2","GABRA1","GABRA3","GABRA5","GABRB3","GABRD","GABRG2","GAD1","GALC","GAMT","GATAD2B","GBA1","GCK","GDI1","GJA5","GJA8","GLB1","GLUD1","GNAI1","GNAO1","GNB1","GOSR2","GPAA1","GPHN","GPT2","GRIN1","GRIN2A","GRIN2D","GRM7","GRN","GTF2E2","GTF2H5","GUCY1A1","HACE1","HCN1","HCN2","HECW2","HNRNPK","HNRNPU","HYMAI","IER3IP1","INS","IREB2","JRK","KANSL1","KARS1","KCNA1","KCNB1","KCNC2","KCNJ10","KCNJ11","KCNMA1","KCNQ2","KCNQ3","KCNT1","KCNT2","KCTD7","KIF4A","KNSTRN","KPTN","LAMA2","LGI1","LMNB2","LNPK","LRPPRC","MAPK1","MAPK10","MAPK8IP3","MARCHF6","MAST3","MBOAT7","MDH2","MECP2","MED13","MEGF8","MFSD8","MPLKIP","MT-ATP6","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND5","MT-ND6","MT-RNR1","MT-TF","MT-TH","MT-TI","MT-TK","MT-TL1","MT-TP","MT-TQ","MT-TS1","MT-TS2","MT-TV","MT-TW","MTHFR","MTOR","MYT1L","NAA10","NADK2","NARS1","NBEA","NDE1","NDUFA1","NDUFA13","NECAP1","NEDD4L","NEU1","NEUROD2","NEXMIF","NFKB2","NGLY1","NHLRC1","NSD1","NTNG1","NTRK2","NUBPL","NUS1","OGDHL","OPHN1","OSTM1","PACS2","PAFAH1B1","PAK3","PCDH12","PCDH19","PCYT2","PDX1","PEX2","PGAP1","PGAP2","PHGDH","PIDD1","PIGA","PIGM","PIGP","PIGQ","PIGT","PIK3CD","PLAA","PLAGL1","PLP1","PLPBP","PMM2","PNKP","PPFIBP1","PPP2CA","PPP3CA","PRDM8","PRICKLE1","PRMT7","PRORP","PRRT2","PSAP","PTEN","PTRH2","PURA","RAB11B","RARS2","RELN","RFX7","RNF113A","RNU4ATAC","RORB","RPL10","SAMD12","SATB1","SATB2","SCARB2","SCN1A","SCN1B","SCN2A","SCN8A","SCN9A","SDHA","SDHAF1","SDHB","SDHD","SEC31A","SEPSECS","SETBP1","SETD1B","SETD2","SIK1","SLC12A5","SLC1A2","SLC1A4","SLC25A12","SLC25A15","SLC25A22","SLC2A1","SLC32A1","SLC35A3","SLC38A3","SLC6A1","SLC6A19","SLC9A6","SMARCA2","SMC1A","SMPD1","SMS","SON","SPATA5","SPATA5L1","SRPX2","STAT3","STX1B","STXBP1","SUCLA2","SYNGAP1","SZT2","TANGO2","TARS1","TBC1D24","TBCD","TK2","TMX2","TRAPPC9","TREX1","TRIM8","TRIT1","TRMT10A","TRPM3","TSEN15","TSEN2","TSEN34","TSEN54","TUBA1A","TUBB2B","TUBB3","UBE3A","VPS50","VPS53","WAC","WDR26","WDR62","XK","YARS1","YEATS2","YWHAG","ZBTB18","ZEB2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPOCALCEMIC_SEIZURES":{"collection":"C5:HPO","systematicName":"M35704","pmid":"","exactSource":"HP:0002199","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002199","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOCALCEMIC_SEIZURES","geneSymbols":["CYP27B1","CYP2R1","FAM111A","GATA3","GCM2","GNAS","PTH","STX16","TBCE","TNFRSF11A","VDR"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PSEUDOBULBAR_SIGNS":{"collection":"C5:HPO","systematicName":"M35705","pmid":"","exactSource":"HP:0002200","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002200","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PSEUDOBULBAR_SIGNS","geneSymbols":["ACTB","ADGRG1","ADSS1","ALDH18A1","ALS2","AP4M1","ASPA","B4GALNT1","CYP27A1","DCTN1","DNMT1","ERLIN2","FBLN1","FIG4","GM2A","HMBS","HTRA1","LMNB1","NEFH","NONO","NOTCH3","NUS1","PI4KA","PRPH","PUS3","RARS1","SEC31A","SOD1","SPG7","SRPX2","TGM6","ZFYVE26"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PLEURAL_EFFUSION":{"collection":"C5:HPO","systematicName":"M35706","pmid":"","exactSource":"HP:0002202","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002202","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PLEURAL_EFFUSION","geneSymbols":["ACTA1","ACTN4","ADAMTS3","AGR2","ALG14","BAP1","BCL2","BCL6","BLTP1","BMP2","BRAF","BTNL2","C4A","CALCRL","CAV1","CBL","CCBE1","CCND1","CCR1","CD46","CFH","CFI","CFTR","CTRC","CYBB","CYBC1","DEF6","DNASE1L3","EIF2AK4","EPHB4","ERAP1","FAS","FAT4","FOXC2","FOXF1","FSHR","GAA","GPR35","HELLPAR","HFE","HLA-B","HLA-DRB1","IFIH1","IFNGR1","IL10","IL12A","IL12A-AS1","IL23R","IL6","IRAK1","ITK","KIF11","KLRC4","LACC1","LYST","LZTR1","MAP2K1","MEFV","MIF","MST1","MTO1","MYD88","NR1H4","PIEZO1","PLVAP","PRKAG2","PRSS1","PRSS2","PTPN11","RASA1","RIT1","SAT1","SCARB2","SCN4A","SEMA4D","SOX18","SPINK1","SPP1","STAT4","TAPT1","TCF4","TLR4","TSC1","TSC2","UBAC2","USP18","VPS51","ZNFX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RESPIRATORY_PARALYSIS":{"collection":"C5:HPO","systematicName":"M35707","pmid":"","exactSource":"HP:0002203","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002203","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RESPIRATORY_PARALYSIS","geneSymbols":["ALAD","CACNA1S","CPOX","GABRA3","HMBS","KCNE3","KCNJ18","PPOX","SCN4A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PULMONARY_EMBOLISM":{"collection":"C5:HPO","systematicName":"M35708","pmid":"","exactSource":"HP:0002204","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002204","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PULMONARY_EMBOLISM","geneSymbols":["ACVRL1","AGGF1","AKT1","C4A","CBS","CCR1","CD55","ENG","ERAP1","F13A1","F2","F8","FAS","GDF2","GNAQ","HABP2","HLA-B","IFNGR1","IL10","IL12A","IL12A-AS1","IL23R","JAK2","KCNJ5","KLRC4","MEFV","MMACHC","MPL","MTHFR","PIGA","PLP1","PROC","PROS1","PTEN","RHAG","SERPINC1","SMAD4","STAT4","TET2","THBD","TLR4","UBAC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RECURRENT_RESPIRATORY_INFECTIONS":{"collection":"C5:HPO","systematicName":"M41255","pmid":"","exactSource":"HP:0002205","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002205","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_RESPIRATORY_INFECTIONS","geneSymbols":["AARS1","AASS","ABCA12","ACP5","ACTA1","ADA","ADA2","ADAMTS3","ADNP","AGA","AGR2","AGRN","AICDA","AK2","ALB","ALDH18A1","ALG12","ALMS1","ALOX12B","ALOXE3","ALPL","AP3B1","AP3D1","ARHGEF1","ARID1A","ARID1B","ARID2","ARPC1B","ARSB","ARSL","ASAH1","ASPRV1","ASXL1","ATM","ATP6V0A2","B2M","B3GALT6","BACH2","BAZ1B","BCL10","BCL7B","BCR","BIRC3","BLM","BLNK","BTK","BUD23","C1QB","C3","C4B","CACNA1B","CARD10","CARD11","CARMIL2","CARS1","CASP8","CAVIN1","CCBE1","CCDC103","CCDC22","CCDC39","CCDC40","CCDC65","CCNO","CD19","CD247","CD27","CD3D","CD3E","CD3G","CD4","CD40LG","CD55","CD79A","CD79B","CD81","CD8A","CDCA7","CEACAM3","CEACAM6","CFAP221","CFAP298","CFAP300","CFAP410","CFAP74","CFI","CFTR","CHAMP1","CHAT","CHRM3","CIITA","CLCA4","CLCN7","CLEC7A","CLIP2","CLPB","COG4","COG6","COL11A2","COL13A1","COL4A5","COL4A6","COL5A1","COL5A2","COL6A1","COL6A2","COL6A3","COLQ","CORO1A","CPLX1","CR2","CREBBP","CRKL","CSPP1","CTBP1","CTC1","CTCF","CTLA4","CTNNBL1","CTSC","CXCR4","CYBA","CYBB","CYBC1","CYP4F22","DCLRE1C","DCTN4","DDR2","DDX59","DIP2B","DKC1","DLL3","DNAAF1","DNAAF11","DNAAF2","DNAAF3","DNAAF4","DNAAF5","DNAAF6","DNAH1","DNAH11","DNAH5","DNAH9","DNAI1","DNAI2","DNAJB13","DNAJC30","DNAL1","DNMT3B","DOCK2","DOCK8","DPF2","DPM2","DPP9","DPYSL5","DRC1","DSG1","DYM","DYNC2I2","DZIP1L","ECM1","EDARADD","EDNRA","EFEMP2","EGFR","EHMT1","EIF4H","ELANE","ELF4","ELN","ELP1","EP300","EPG5","ERCC2","ERCC3","ERCC6","ERF","EXOSC9","EXTL3","FAT4","FBLN5","FBXO28","FBXW7","FCGR2A","FCGR3A","FCHO1","FCN3","FCSK","FKBP6","FLI1","FLNA","FLNC","FMO3","FOXJ1","FOXN1","FOXP1","FOXP2","FOXP3","FUCA1","FUT8","G6PC3","GAA","GALNS","GAS2L2","GAS8","GATA2","GBA1","GCLC","GEMIN4","GFI1","GFM2","GLB1","GLI3","GLUL","GMNN","GNPTAB","GNS","GORAB","GRIA1","GSTM3","GTF2E2","GTF2H5","GTF2I","GTF2IRD1","GTF2IRD2","GUSB","H4C3","H4C5","HACD1","HCK","HELLS","HERC2","HFE","HGSNAT","HLA-B","HLA-DPA1","HLA-DPB1","HLA-DRB1","HMOX1","HPS6","HYDIN","HYOU1","ICOS","IDH1","IDS","IDUA","IER3IP1","IFIH1","IFT122","IFT140","IGBP1","IGHG2","IGHM","IGKC","IGLL1","IKBKB","IKBKG","IKZF1","IL10RB","IL17F","IL17RA","IL17RC","IL21","IL21R","IL2RA","IL2RB","IL2RG","IL6R","IL6ST","IL7R","INPPL1","IRAK4","IRF2BP2","IRF8","ITCH","ITGA3","ITGA7","IVNS1ABP","JAGN1","JAK3","KANSL1","KAT6A","KAT6B","KATNIP","KCNJ6","KCNN4","KDM5C","KIAA0586","KIF1A","KIF20A","KMT2D","KPTN","KRAS","KRT5","LAMA2","LAMB2","LAMTOR2","LAT","LCK","LEP","LEPR","LETM1","LIG1","LIG4","LIMK1","LIPN","LMNB1","LRBA","LRRC56","LRRC8A","LTBP1","LTBP4","LYST","MAGEL2","MAGT1","MALT1","MANBA","MAP3K20","MAPK1","MASP2","MBTPS2","MCIDAS","MCM4","MDFIC","MDM4","MECP2","MED25","MEGF10","MESP2","METTL27","MGAT2","MGP","MIF","MIR140","MKRN3","MLXIPL","MPLKIP","MS4A1","MSN","MTHFD1","MTM1","MYH3","MYL2","MYL9","MYO5A","MYO9A","MYPN","MYSM1","NAE1","NAGLU","NBN","NCF1","NCF2","NCF4","NDN","NDUFC2","NECTIN1","NEK10","NELFA","NEPRO","NFASC","NFE2L2","NFIX","NFKB1","NFKB2","NFKBIA","NGLY1","NHLRC2","NHP2","NIPAL4","NKX2-1","NME5","NME8","NOP10","NOTCH2","NPAP1","NPM1","NRAS","NSD2","NUP214","NXN","OAS1","OCA2","OCRL","ODAD1","ODAD2","ODAD3","ODAD4","OFD1","ORC6","P4HA2","P4HTM","PAK2","PARN","PCGF2","PCNT","PEPD","PET117","PEX5","PGM3","PHIP","PIGG","PIK3CD","PIK3CG","PIK3R1","PKHD1","PKP1","PLCG2","PLEC","PLG","PLOD1","PLP1","PLVAP","PNP","POLA1","POLE","POLR2A","POLR3A","PPP1R21","PRKCD","PRKDC","PRPS1","PRTN3","PSAP","PSMB8","PTEN","PTPN22","PURA","PWAR1","PWRN1","PYROXD1","RAB3GAP2","RAC1","RAC2","RAG1","RAG2","RASGRP1","REEP1","RELB","RFC2","RFT1","RFX5","RFX7","RFXANK","RFXAP","RIPK1","RNF113A","RNF125","RNF168","RNU4ATAC","ROR2","RPGR","RSPH1","RSPH3","RSPH4A","RSPH9","RTEL1","RUNX2","RYR1","SAMD9L","SASH3","SATB1","SCN10A","SCN11A","SCN9A","SCNN1A","SCNN1B","SCNN1G","SDCCAG8","SDR9C7","SELENON","SERPINA1","SERPINH1","SETBP1","SFTPC","SGSH","SH2D1A","SH3KBP1","SHROOM4","SIAH1","SIK1","SIM1","SLC11A1","SLC18A3","SLC1A4","SLC25A1","SLC25A22","SLC26A2","SLC26A9","SLC29A3","SLC35C1","SLC37A4","SLC39A7","SLC41A1","SLC46A1","SLC52A3","SLC5A7","SLC6A14","SLC9A3","SMARCA2","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCD2","SMARCE1","SMN1","SMPD1","SNAP25","SNORD115-1","SNORD116-1","SNRPN","SNX10","SOCS1","SOX11","SOX4","SOX9","SP110","SPAG1","SPEF2","SPI1","SPINK5","SPTBN4","SREBF1","SRP19","SRP54","STAT1","STAT3","STING1","STK36","STK4","STX1A","STX3","STXBP2","SUCLG1","SULT2B1","SYT2","TAFAZZIN","TAOK1","TAP1","TAP2","TAPBP","TARS1","TASP1","TBC1D23","TBC1D24","TBCD","TBCE","TBL2","TBX1","TBX6","TCEAL1","TCF3","TCIRG1","TCTN3","TECPR2","TERC","TERT","TET2","TFRC","TGFB1","TGM1","TIMMDC1","TINF2","TK2","TLL1","TMCO1","TMEM270","TMEM94","TNFRSF11A","TNFRSF13B","TNFRSF13C","TNFRSF1A","TNFRSF9","TNFSF11","TNFSF12","TNNI3","TNNT2","TOM1","TONSL","TP73","TPM2","TPM3","TPP2","TRAC","TRAF3IP2","TRAIP","TRIM37","TRIP11","TRIP4","TRPS1","TSC1","TSC2","TTC12","TTC26","TTC7A","TYK2","TYMS","UBA2","UBE2A","UFC1","UGP2","UMPS","UNC119","UNG","UQCRH","USB1","USP26","USP9X","VAMP1","VARS1","VPS33A","VPS35L","VPS37D","VPS51","WAC","WAS","WASHC5","WDR1","WDR19","WDR35","WIPF1","WRAP53","XIAP","ZAP70","ZBTB24","ZBTB7A","ZMYND10","ZNF341","ZNF668","ZNFX1","ZNHIT3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PULMONARY_FIBROSIS":{"collection":"C5:HPO","systematicName":"M35709","pmid":"","exactSource":"HP:0002206","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002206","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PULMONARY_FIBROSIS","geneSymbols":["ABCA3","AP3B1","ATP11A","BACH2","BMP15","BNC1","BTNL2","CASP10","CAV1","CCN2","CCR6","CTC1","CTLA4","CYBC1","DKC1","DPP9","DSP","EHHADH","FAM111B","FAM13A","FAS","FASLG","FSHR","GATM","GBA1","HLA-B","HLA-DPA1","HLA-DPB1","HLA-DRB1","HPS1","HPS4","HPS6","IL1RN","IRF5","KIAA0319L","MARS1","MRPS22","MSH4","MUC5B","NAF1","NDUFAF6","NHLRC2","NHP2","NKX2-1","NOP10","NPC2","NR5A1","NUP107","PARN","PLEC","POLR3H","PRKCD","PRTN3","PSMC3IP","PTPN22","RAC2","RASGRP1","RCBTB1","RNF168","RPA1","RTEL1","SFTPA1","SFTPA2","SFTPC","SLC34A1","SLC34A2","SP110","SPIDR","STING1","STN1","TERC","TERT","THOC2","TINF2","TOM1","TP53","ZCCHC8","ZSWIM7"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_COARSE_HAIR":{"collection":"C5:HPO","systematicName":"M35710","pmid":"","exactSource":"HP:0002208","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002208","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_COARSE_HAIR","geneSymbols":["AFF4","ATP6V0A2","ATP6V1A","ATP6V1E1","ATP7A","BCS1L","C18orf32","CBL","CCDC47","CERT1","EBP","EPS8L3","ERCC3","FLNA","GNS","GON7","GUSB","HEATR3","HGSNAT","HR","IKBKG","KRAS","KRT74","LPAR6","LZTR1","MRAS","NAGLU","NECTIN4","NOTCH2","NOTCH3","NRAS","OFD1","PADI3","PLOD3","PPP1CB","PTEN","PTPN11","RAF1","RASA2","RIT1","RPS6KA3","RRAS","RRAS2","SEC23A","SGSH","SLC25A24","SMARCAL1","SOS1","SOS2","SPRED2","SREBF1","SUMF1","TGM3","TMCO1","TP63","VPS33A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SPARSE_SCALP_HAIR":{"collection":"C5:HPO","systematicName":"M35711","pmid":"","exactSource":"HP:0002209","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002209","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPARSE_SCALP_HAIR","geneSymbols":["AARS1","ACD","ADNP","AHSG","APC2","APCDD1","ARID1A","ARID1B","ARID2","ATR","ATRIP","ATRX","AXIN2","B3GALT6","B4GALT7","BANF1","BICRA","BRAF","C3orf52","CACNA1C","CARS1","CAV1","CBS","CDC42BPB","CDH23","CDH3","CDSN","CENPE","CENPJ","CEP152","CLDN1","CRIPT","CST6","DCLRE1B","DKC1","DNA2","DPF2","DPH1","DPH2","DSC3","DSG4","EDARADD","EIF5A","EPS8L3","ERCC2","ERCC3","EXT1","FAS","FIG4","GJA1","GJB2","GJB6","GNB2","GTF2E2","GTF2H5","HDAC4","HLA-DRA","HR","HRURF","IFT140","IGF1R","IPO8","ITGA3","ITGB6","JUP","KANK2","KAT6B","KDM1A","KIFBP","KRT17","KRT25","KRT74","LIG4","LIPH","LMNA","LPAR6","LSS","LTV1","MAF","MBTPS2","MED25","MPLKIP","NECTIN4","NEPRO","NFKBIA","NHP2","NOP10","NR3C1","NSD1","NSUN2","NTRK1","NUP85","OCRL","ODC1","PARN","PCGF2","PCNT","PLK4","POLR3A","PPP1CB","PRKD1","PTPN22","RAD21","RBBP8","RECQL4","RIN2","RIPK4","RNF113A","RNU12","RNU4ATAC","RPL21","RTEL1","SETD2","SHOC2","SLC25A24","SMARCA2","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SNRPE","SOX11","SOX18","SOX4","SPINK5","TARS1","TERT","TINF2","TP53","TP63","TRAIP","TRPS1","TSPEAR","UBA2","UBR1","USP48","USP8","VAC14","WLS","WNT10A","WRN","ZBTB20"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_WHITE_FORELOCK":{"collection":"C5:HPO","systematicName":"M35712","pmid":"","exactSource":"HP:0002211","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002211","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WHITE_FORELOCK","geneSymbols":["EDN3","EDNRB","KIT","KITLG","LMNA","MITF","PAX3","PEPD","SNAI2","SOX10","TERT","TFAP2A","TYR","WRN"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CURLY_HAIR":{"collection":"C5:HPO","systematicName":"M35713","pmid":"","exactSource":"HP:0002212","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002212","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CURLY_HAIR","geneSymbols":["AFF4","BRAF","CCDC47","CDK13","CERT1","DPYSL5","EFNB1","GAN","GJA1","GNB2","H4C5","HNRNPH2","HRAS","JUP","KRAS","KRT25","LZTR1","MAP2K1","MAP2K2","MTOR","NRAS","PPP1CB","RAF1","RIPK4","RIT1","SHOC2","SKIC3","SON","SOS1","SOS2","SPRED2","ST14","TCHH","TMEM147","USP9X"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FINE_HAIR":{"collection":"C5:HPO","systematicName":"M35714","pmid":"","exactSource":"HP:0002213","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002213","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FINE_HAIR","geneSymbols":["ABCD1","ALMS1","ALX4","BRAF","BRF1","CARS1","CBL","CDH3","CDSN","COL3A1","CSTB","CTC1","DCAF17","DEAF1","DSG4","EDA","EDAR","EDARADD","EED","ERCC2","EZH2","GATAD2B","GJA1","GJB6","GNPTAB","GTPBP2","HECTD4","HPD","HRAS","IFT122","IFT43","IKBKG","ITGA3","KAT6B","KCTD1","KRAS","KRT25","KRT71","KRT74","KRT81","KRT83","KRT86","LIG4","LIPH","LPAR6","MAP2K1","MAP2K2","MED12","MSX1","NAA10","NBAS","NSD1","NSUN2","OCRL","PCNT","PIGL","PPP1R15B","PYCR1","RAF1","RLIM","RMRP","RNU4ATAC","SATB2","SIN3A","SIN3B","SKIC3","SLC7A7","SMAD4","SMARCAL1","SPINK5","SUOX","SUZ12","TINF2","TP63","TRIM8","TRMT10A","TRPS1","TWIST2","WDR35","WNT10A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SPARSE_AXILLARY_HAIR":{"collection":"C5:HPO","systematicName":"M46070","pmid":"","exactSource":"HP:0002215","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002215","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPARSE_AXILLARY_HAIR","geneSymbols":["ADAMTS3","APCDD1","AR","AXIN2","AXL","CCBE1","CCDC141","COL17A1","CYB5A","CYP17A1","DHX37","DMRT3","DSC3","DUSP6","FAT4","FEZF1","FGF17","FSHB","GATA4","GJB6","GNRH1","GNRHR","HLA-DRA","ITGB4","KCTD1","LHB","LIPH","LPAR6","MAP3K1","NR0B1","NR5A1","ORC6","PSMB8","RPL21","SEMA3E","SOX9","SPRY4","SRA1","SRY","TBX3","TP63","VAMP7","WDR11","WT1","WWOX","ZFPM2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PREMATURE_GRAYING_OF_HAIR":{"collection":"C5:HPO","systematicName":"M35715","pmid":"","exactSource":"HP:0002216","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002216","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PREMATURE_GRAYING_OF_HAIR","geneSymbols":["ACD","ATM","BRCC3","CTC1","DKC1","DPP9","DSTYK","EDN3","EDNRB","ELN","ERCC6","ERCC8","FAS","INSR","KITLG","LMNA","MDM2","MITF","MLXIPL","MTAP","MYO5A","NAF1","NHP2","NOP10","NPM1","PARN","PAX3","PSMB8","PTPN22","RAB27A","RECQL4","RPA1","RTEL1","SLC5A6","SNAI2","SOX10","SPRTN","STN1","TERC","TERT","TFAP2A","TINF2","TYMS","TYR","USB1","WRAP53","WRN","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SILVER_GRAY_HAIR":{"collection":"C5:HPO","systematicName":"M41256","pmid":"","exactSource":"HP:0002218","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002218","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SILVER_GRAY_HAIR","geneSymbols":["BLOC1S3","DSTYK","LYST","MLPH","MYO5A","RAB27A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FACIAL_HYPERTRICHOSIS":{"collection":"C5:HPO","systematicName":"M35716","pmid":"","exactSource":"HP:0002219","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002219","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FACIAL_HYPERTRICHOSIS","geneSymbols":["ABCA5","ADAMTS3","ADAT3","AFF3","AFF4","AIP","ALG9","AMMECR1","ANKRD11","ARID1B","ARL3","ARX","ASH1L","ASXL1","ASXL2","ASXL3","ATP6V1B2","B3GLCT","BCAS3","BICRA","BMP2","BPTF","BRD4","CCDC47","CDC42","CDC42BPB","CDH11","CDH2","CDK10","CDKL5","CDON","CERT1","CHD5","CHMP1A","CHRNA7","CHSY1","CLCN3","CLP1","COX5A","CREBBP","CSNK2A1","CTCF","CUL4B","CWF19L1","DDB1","DEAF1","DHX30","DOCK7","EBF3","EDN3","EDNRB","EHMT1","EMC10","EP300","ERLIN2","FBXO28","FBXO31","FGF3","FGFR1","FHL1","FLII","FRA10AC1","FREM1","GABRA3","GATA1","GJA5","GJA8","GNB2","GNE","GNS","GPR101","HDAC8","HEATR3","HECTD4","HGSNAT","HID1","HIVEP2","HMGA2","HNRNPU","HSPA9","IGF1R","IL1RAPL1","INSR","IQSEC2","JARID2","KATNB1","KCNH1","KCNK4","KCNMA1","KCNN3","KDM1A","KDM4B","KIF26A","KIFBP","KIT","KLF13","KMT2A","KNL1","LEMD3","MAB21L1","MAP1B","MAPK8IP3","MAPRE2","MASP1","MBD5","MED13","MED27","MITF","NAGLU","NANS","NDST1","NECTIN1","NFIX","NIPBL","NMNAT1","NOTCH2","NSUN2","NUDT2","OGT","PACS1","PACS2","PAX3","PCDHGC4","PHF8","PHIP","PIGN","POLR3A","PPP1R15B","PRKG2","PRR12","PSMC3","PSMD12","PTCH1","RAB3GAP1","RAC1","RAD21","RAI1","RPS23","RUSC2","SCN4A","SETBP1","SETD5","SGSH","SLC1A4","SLC25A24","SMARCA2","SMC1A","SMC3","SMCHD1","SMS","SNAI2","SNX14","SOX10","SPEN","SPOP","SPTBN1","STAG1","TAF1","TAF6","TALDO1","TASP1","TBCD","TBCK","TFE3","TMCO1","TMEM147","TMEM94","TOE1","TRAPPC10","TRAPPC9","TRIM8","TRIO","TRMT1","TRMT10A","TTI2","TUBGCP2","UBE2A","UFC1","UGDH","UGP2","UQCC2","UROD","UROS","VPS33A","WAC","WARS1","WNT4","XYLT1","ZBTB20","ZIC2","ZMYND11","ZNF292","ZNF407","ZNF699","ZNF711"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABSENT_AXILLARY_HAIR":{"collection":"C5:HPO","systematicName":"M35717","pmid":"","exactSource":"HP:0002221","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002221","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_AXILLARY_HAIR","geneSymbols":["APOE","AR","CYP17A1","EPS8L3","GJB2","GJB6","HR","ITGB4","LSS","PPP2R3C","SNRPE","TBX3","ZBTB20"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABSENT_EYEBROW":{"collection":"C5:HPO","systematicName":"M35718","pmid":"","exactSource":"HP:0002223","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002223","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_EYEBROW","geneSymbols":["ALX1","ANAPC1","AXIN2","BRAF","CDH3","CWC27","DSP","EDA","EDARADD","FRAS1","GJA1","GJB6","HR","JUP","KRAS","KRT85","LMNA","LTV1","MAP2K2","MBTPS2","ODC1","PI4KA","PKP1","POLR3A","RECQL4","RIPK4","RNU12","SMARCA2","SOX18","TTC7A","TWIST2","UBE3B","UROS","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_WOOLLY_HAIR":{"collection":"C5:HPO","systematicName":"M35719","pmid":"","exactSource":"HP:0002224","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002224","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WOOLLY_HAIR","geneSymbols":["AARS1","ATP7A","BRAF","CCDC47","DSC2","DSG2","DSP","EFNB1","GAN","HRAS","JUP","KANK2","KRT25","KRT71","KRT74","LIPH","LPAR6","MAP2K1","MPLKIP","PADI3","PERP","PTPN11","SKIC2","SKIC3","TGM3","TTC5"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_WHITE_EYEBROW":{"collection":"C5:HPO","systematicName":"M35720","pmid":"","exactSource":"HP:0002226","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002226","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WHITE_EYEBROW","geneSymbols":["EDN3","EDNRB","KIT","MC1R","MITF","MYO5A","OCA2","PAX3","SNAI2","SOX10","TYRP1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_GENERALIZED_HIRSUTISM":{"collection":"C5:HPO","systematicName":"M35721","pmid":"","exactSource":"HP:0002230","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002230","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENERALIZED_HIRSUTISM","geneSymbols":["ABCA5","ABCC9","AIP","AKT1","ARL6","ARX","BBIP1","BBS1","BBS10","BBS12","BBS2","BBS4","BBS5","BBS7","BBS9","BMP1","BRD4","BSCL2","CASZ1","CEP19","CEP290","CFAP418","CTSC","CYP19A1","ELMO2","GABRD","GJA1","GJB3","GJB4","GNE","GPR101","HDAC8","HSPG2","IDUA","IFT172","IFT27","IFT74","INSR","IRF6","KCNAB2","KCNJ8","KDSR","KMT2A","LMNA","LMNB2","LUZP1","LZTFL1","MAPK1","MAPRE2","MBD5","MC1R","MKKS","MKS1","MMP23B","NFIX","NIPBL","NOTCH2","NPHP1","NRAS","PDPN","PEPD","PPARG","PRDM16","PRKCZ","PRKG2","PTEN","RAB18","RAB3GAP1","RAB3GAP2","RAD21","RERE","SCAPER","SCLT1","SDCCAG8","SKI","SLC25A12","SLC25A24","SMC1A","SMC3","SMO","SPEN","SUCLA2","TBC1D20","TRIM32","TTC8","TUBB","TWIST1","TWIST2","UBE2A","UBE4B","WDPCP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SPARSE_BODY_HAIR":{"collection":"C5:HPO","systematicName":"M35722","pmid":"","exactSource":"HP:0002231","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002231","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPARSE_BODY_HAIR","geneSymbols":["AHSG","APCDD1","AXIN2","CDH3","CHD7","CLDN1","COL17A1","CST6","CTSC","CYB5A","CYP17A1","DSC3","DSG4","DUSP6","EDA","EDA2R","EDAR","EDARADD","FGF17","FGF8","FGFR1","FMR1","GNRH1","GNRHR","HRURF","HS6ST1","ITGB4","ITGB6","JUP","KANK2","KDF1","KISS1","KISS1R","KLHL24","KRT25","KRT71","KRT74","KRT85","LAMA3","LAMB3","LAMC2","LIPH","LMNA","LPAR6","LSS","NHLH2","NSMF","PROK2","PROKR2","RPL21","SNRPE","SOX18","SPRY4","ST14","TAC3","TACR3","TP63","TRAF6","WDR11","WNT10A","ZBTB20"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PATCHY_ALOPECIA":{"collection":"C5:HPO","systematicName":"M35723","pmid":"","exactSource":"HP:0002232","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002232","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PATCHY_ALOPECIA","geneSymbols":["BLM","COL17A1","DSG4","EBP","ECM1","EXOSC2","HR","HRAS","IKBKG","IL2RA","ITGB4","KCTD1","KDM5C","KRT81","KRT83","KRT86","LAMB3","LMNA","NECTIN4","PADI3","PORCN","TGM3","TP63","TRAC","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PILI_CANALICULI":{"collection":"C5:HPO","systematicName":"M35724","pmid":"","exactSource":"HP:0002235","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002235","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PILI_CANALICULI","geneSymbols":["GAN","PADI3","TCHH","TGM3","TP63"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FRONTAL_UPSWEEP_OF_HAIR":{"collection":"C5:HPO","systematicName":"M46071","pmid":"","exactSource":"HP:0002236","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002236","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FRONTAL_UPSWEEP_OF_HAIR","geneSymbols":["CAMK2A","CAMTA1","CREBBP","EP300","FLNA","FOXP1","FRMPD4","HDAC4","HERC2","IFT140","MAGEL2","MED12","MED13L","MED27","MKRN3","NPAP1","OGT","POLA1","PPP2R3C","PWAR1","PWRN1","SNORD115-1","SNORD116-1","TCF4","TRIO","UBR1","YY1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_GASTROINTESTINAL_HEMORRHAGE":{"collection":"C5:HPO","systematicName":"M35726","pmid":"","exactSource":"HP:0002239","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002239","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GASTROINTESTINAL_HEMORRHAGE","geneSymbols":["ABCC6","ACVRL1","AGGF1","ALDOB","AMACR","APC","ARHGAP31","ARPC1B","ARVCF","ASXL1","ATP7A","ATRX","BMPR1A","C4A","CALR","CASP10","CBL","CBS","CCR1","CD109","CDKN1A","CDKN1B","CDKN2B","CDKN2C","CISD2","COMT","CTC1","CTLA4","CTNNB1","CYP7B1","DAXX","DLL4","DOCK6","DZIP1L","ENG","ENPP1","EOGT","EPCAM","ERAP1","F10","F11","F2","F5","F7","F8","F9","FAH","FAN1","FAS","FCGR2C","FGA","FGB","FGG","GDF2","GFI1B","GP1BA","GP1BB","GP9","GREM1","HIRA","HLA-B","HLA-DPA1","HLA-DPB1","HPGD","HPS1","HSD3B7","IFIH1","IFNGR1","IKZF1","IL10","IL10RA","IL12A","IL12A-AS1","IL23R","IRF4","ITGA2","ITGA2B","ITGB3","JAK2","JMJD1C","KIF23","KIT","KLRC4","KRAS","LBR","LMAN1","LRP5","MCFD2","MED12","MEFV","MEN1","MLH1","MLH3","MPI","MPL","MSH2","MSH6","MVK","MYC","MYD88","NOTCH1","PDGFRA","PIK3CA","PKHD1","PLOD1","PLVAP","PMS1","PMS2","POT1","PRKCSH","PRTN3","PTEN","PTPN22","PUF60","RACGAP1","RBCK1","RBPJ","RHBDF2","RPS20","RREB1","RUNX1","SDHA","SDHB","SDHC","SDHD","SEC24C","SEC63","SEMA4A","SERPINE1","SLC25A13","SLCO2A1","SMAD4","SREBF1","SRSF2","STAT4","STK11","STN1","TAOK1","TBX1","TEK","TET2","TGFBR2","TLR4","TNFRSF1A","TNXB","TREX1","TSC1","TSC2","TTC7A","UBAC2","UFD1","VWF","WAS","WFS1","WIPF1","XYLT1","XYLT2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HEPATOMEGALY":{"collection":"C5:HPO","systematicName":"M35727","pmid":"","exactSource":"HP:0002240","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002240","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEPATOMEGALY","geneSymbols":["ABCA1","ABCA12","ABCB11","ABCB4","ABCC2","ABCC8","ABCD3","ABHD5","ACADM","ACADVL","ACAT1","ACOX1","ADA","ADA2","ADAMTSL2","ADAR","AGA","AGGF1","AGL","AGPAT2","AGR2","AKR1D1","AKT2","ALDH1A2","ALDOA","ALDOB","ALG1","ALG13","ALG2","ALG8","ALG9","ALMS1","AMACR","ANK1","ANKRD55","ANTXR1","AP3B1","AP3D1","APOA1","APOC2","APOE","ARG1","ARL13B","ARSB","ASAH1","ASL","ASS1","ASXL1","ATAD3A","ATP5F1A","ATP5F1D","ATP5F1E","ATP5MK","ATP6AP1","ATP6AP2","ATP6V1B2","ATP7B","ATP8B1","ATPAF1","ATPAF2","ATRX","AUH","B2M","B4GALT1","BAAT","BAP1","BMP2","BMP6","BOLA3","BRCA1","BRCA2","BSCL2","BTD","BTNL2","C1QBP","C2orf69","CA2","CALR","CASP10","CASR","CAV1","CAVIN1","CBL","CBS","CC2D2A","CCDC115","CCDC47","CD19","CD247","CD27","CD28","CD3D","CD3E","CD40LG","CD55","CD70","CD81","CD96","CDAN1","CDIN1","CDKN1C","CDKN2A","CFTR","CHD7","CIDEC","CLCN7","CLDN1","CNTNAP2","COA8","COG1","COG4","COG5","COG6","COG7","COX14","COX4I2","COX5A","CPOX","CPT1A","CPT2","CR2","CTC1","CTLA4","CTNNB1","CTNS","CTSA","CTSK","CYBA","CYBB","CYBC1","CYP7B1","DAXX","DCDC2","DCLRE1C","DDRGK1","DEF6","DGUOK","DHCR7","DHDDS","DHFR","DIS3L2","DKC1","DLD","DLK1","DNAJC21","DNASE1L3","DNASE2","DOCK2","DPAGT1","DPM1","DPM2","DYNC2LI1","DZIP1L","EARS2","EFL1","EIF2AK3","EPB42","ERBB3","ERCC1","ERCC4","ERCC6","ERCC8","ETFA","ETFB","ETFDH","EWSR1","EXTL3","F5","FAH","FAM111B","FARSA","FAS","FASLG","FBN1","FBP1","FCGR2A","FDX2","FERMT3","FGA","FGFR2","FLNC","FOCAD","FOS","FOXRED1","FUCA1","G6PC1","G6PC3","GAA","GALE","GALK1","GALM","GALNS","GALT","GATA2","GBA1","GBE1","GCDH","GCLC","GFM1","GIMAP5","GLB1","GLIS3","GLRX5","GNB2","GNE","GNMT","GNPTAB","GNS","GPC3","GPC4","GPD1","GPIHBP1","GPR35","GUCY2D","GUSB","HADHA","HAMP","HAVCR2","HBA1","HBA2","HBB","HBG1","HBG2","HCK","HEXB","HFE","HGSNAT","HJV","HLA-DRB1","HMGCL","HMGCS2","HMOX1","HNF1A","HNF4A","HPGD","HSD17B4","HSD3B7","HYMAI","HYOU1","IARS1","ICOS","IDS","IDUA","IFIH1","IFNG","IFNGR1","IFT122","IFT140","IFT172","IGF2","IKBKG","IL18BP","IL1RN","IL2RA","IL2RB","IL2RG","IL6","IL6ST","IL7R","INPP5E","INPPL1","INSR","IRF4","IRF8","ITCH","ITK","JAK1","JAK2","JAK3","JAM2","JAM3","KCNH1","KCNJ11","KCNMA1","KCNN3","KCNN4","KCNQ1","KCNQ1OT1","KIF12","KIF20A","KIF3B","KIT","KLF1","KPTN","KRAS","LACC1","LAMA5","LARS1","LBR","LCAT","LIG4","LIPA","LIPE","LMBRD1","LMNA","LPIN2","LPL","LRP5","LSM11","LTBP3","LYRM4","LYST","LYZ","LZTR1","MADD","MAGT1","MAN2B1","MAPK8IP3","MARS1","MCM4","MECOM","MED12","MEFV","MEG3","MET","MFN2","MICU1","MIF","MMAA","MMAB","MMUT","MOGS","MPC1","MPI","MPL","MPV17","MRAS","MRPL3","MRPS28","MRPS7","MST1","MT-ATP6","MT-ATP8","MT-CYB","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND5","MT-ND6","MT-TE","MT-TK","MT-TL1","MT-TN","MT-TS1","MT-TV","MT-TW","MTTP","MTX2","MVK","MYBPC3","MYD88","MYL2","MYO5B","MYORG","MYPN","NAE1","NAGA","NAGLU","NAGS","NCF1","NCF2","NCF4","NCKAP1L","NDUFA1","NDUFA11","NDUFA2","NDUFA6","NDUFAF1","NDUFAF2","NDUFAF3","NDUFAF4","NDUFAF5","NDUFAF8","NDUFB10","NDUFB11","NDUFB3","NDUFB9","NDUFS1","NDUFS2","NDUFS3","NDUFS4","NDUFS6","NDUFS7","NDUFS8","NDUFV1","NDUFV2","NEK8","NEU1","NFKBIA","NGLY1","NHLRC2","NHP2","NLRP1","NLRP3","NOP10","NOTCH2","NPC1","NPC2","NPHP3","NPM1","NRAS","NSD2","NUBPL","OCLN","OSTM1","OTUD5","PALB2","PALLD","PARN","PC","PCCA","PCCB","PCK1","PDGFB","PDGFRA","PDGFRB","PEPD","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PGM1","PHKA2","PHKB","PHKG2","PIEZO1","PIGA","PIGL","PIGM","PIGS","PIK3C2A","PIK3CD","PIK3CG","PIK3R1","PKD2","PKHD1","PKLR","PLAGL1","PLEKHM1","PMM2","PNPLA2","POLD1","POLG","POLG2","PPARG","PPP1R21","PRF1","PRKCD","PRKCSH","PSAP","PSMB10","PSMB4","PSMB8","PSMB9","PSMG2","PSTPIP1","PTEN","PTPN11","PTPN2","PTPN22","PTPRC","PTRH2","PUS7","PYGL","RAB27A","RABL3","RAC2","RAF1","RAG1","RAG2","RASA2","RASGRP1","RBCK1","RBM8A","REL","RFT1","RHAG","RHBDF2","RHCE","RHD","RINT1","RIPK1","RIT1","RMND1","RMRP","RNASEH2A","RNASEH2B","RNASEH2C","RNU4ATAC","RNU7-1","RORC","RPGRIP1L","RRAS","RRAS2","RTEL1","RTL1","RUNX1","SAA1","SAMHD1","SASH3","SBDS","SC5D","SCARB2","SCN4A","SCO1","SCO2","SCYL1","SDHD","SEC63","SEMA4D","SEMA7A","SERPINA1","SF3B1","SGSH","SH2D1A","SKIC2","SKIC3","SLC17A5","SLC20A2","SLC22A5","SLC25A1","SLC25A13","SLC25A15","SLC25A19","SLC25A20","SLC29A3","SLC2A1","SLC2A2","SLC30A10","SLC34A2","SLC35C1","SLC37A4","SLC38A3","SLC39A4","SLC40A1","SLC4A1","SLC7A7","SLCO2A1","SMAD4","SMPD1","SNX10","SNX14","SOCS1","SOS1","SOS2","SOX10","SP110","SPRED2","SPTA1","SPTB","SRP54","SRSF2","STAT1","STAT3","STAT4","STEAP3","STX11","STXBP2","SUCLG1","SUMF1","SURF1","TALDO1","TCF4","TCIRG1","TCN2","TERC","TERT","TET2","TFE3","TGFB1","TIMMDC1","TINF2","TKFC","TKT","TLR8","TMEM126B","TMEM165","TMEM67","TMEM70","TNFRSF11A","TNFRSF13B","TNFRSF13C","TNFRSF1A","TNFRSF1B","TNFSF11","TNNI3","TNNT2","TOGARAM1","TOM1","TP53","TRAC","TRAPPC11","TREX1","TRIM37","TRMU","TRPV6","TSFM","TTC26","TUFM","TULP3","TYMS","UBR1","UCP2","UNC13D","UQCRB","UROS","USB1","USP18","VIPAS39","VPS11","VPS13A","VPS33A","VPS33B","VPS45","VPS4A","WDR19","WDR35","WRAP53","WT1","XIAP","XK","XPR1","XRCC4","XYLT1","YARS1","YARS2","ZAP70","ZFYVE19","ZIC3","ZNF699","ZNFX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_INTESTINE_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M35728","pmid":"","exactSource":"HP:0002242","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002242","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_INTESTINE_MORPHOLOGY","geneSymbols":["AAGAB","ABCB1","ABCB11","ABCB4","ABCD1","ABL1","ACADVL","ACOX2","ACTA2","ACTG2","ACVRL1","ADA2","ADAM17","ADAMTS3","AGA","AHI1","AIRE","AK2","AKR1D1","AKT1","ALDH18A1","ALG1","ALG12","ALG3","ALG6","ALG8","ALG9","AMACR","AMER1","ANTXR2","AP1B1","AP1S1","APC","APC2","APOB","ARID1B","ARL13B","ARL3","ARL6","ARMC9","ARPC1B","ARVCF","ARX","ASCL1","ASXL1","ASXL3","ATP7A","ATP8B1","ATRX","AURKA","AXIN2","B2M","B3GLCT","B9D1","B9D2","BACH2","BAX","BAZ1B","BBS1","BCL10","BCL7B","BCOR","BDNF","BICRA","BLM","BLNK","BMPR1A","BRAF","BRCA1","BRCA2","BRD4","BRIP1","BTK","BUB1","BUB1B","BUB3","BUD23","C1R","C1S","C4A","CALR","CAMK2A","CARD11","CARD8","CARMIL2","CASP10","CASZ1","CAV1","CAVIN1","CBL","CBY1","CC2D2A","CCBE1","CCDC103","CCDC22","CCDC28B","CCDC39","CCDC40","CCDC47","CCDC65","CCN2","CCND1","CCNO","CCNQ","CCR1","CCR6","CD3G","CD55","CD79A","CD79B","CDC45","CDCA7","CDK8","CDKN1A","CDKN1B","CDKN2A","CDKN2B","CDKN2C","CDON","CEACAM3","CEACAM6","CENPF","CEP104","CEP120","CEP290","CEP41","CEP57","CFAP221","CFAP298","CFAP300","CFAP45","CFAP74","CFC1","CFTR","CHD7","CHEK2","CHRM3","CHST14","CIITA","CISD2","CLCA4","CLIP2","CLMP","CLTRN","COG6","COG8","COL14A1","COL1A1","COL3A1","COL5A1","COL5A2","COMT","COX4I2","COX7B","CPLANE1","CPLX1","CREBBP","CSPP1","CTBP1","CTC1","CTLA4","CTNNB1","CTRC","CXCR4","CYBA","CYBB","CYBC1","CYP7B1","DACT1","DCC","DCLRE1B","DCTN4","DDB1","DDX3X","DDX59","DEF6","DGAT1","DHCR24","DHCR7","DHODH","DICER1","DIS3L2","DISP1","DKC1","DLC1","DLL1","DMP1","DNAAF1","DNAAF11","DNAAF2","DNAAF3","DNAAF4","DNAAF5","DNAAF6","DNAH1","DNAH11","DNAH5","DNAH9","DNAI1","DNAI2","DNAJB13","DNAJC21","DNAJC30","DNAL1","DNMT3B","DOCK2","DOCK8","DOK7","DPYSL5","DRC1","DSE","DSG1","DYNC2H1","DYRK1A","DZIP1L","ECE1","EDN3","EDNRA","EDNRB","EFEMP2","EFL1","EIF4H","ELANE","ELF4","ELN","ENG","ENPP1","EP300","EPCAM","ERAP1","ERBB2","ERBB3","ERCC2","ERCC4","EWSR1","EXT1","EXT2","EYA1","F12","F13A1","F13B","F5","FAH","FAN1","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FARSB","FAS","FASLG","FAT4","FBLN5","FBN2","FCGR2A","FCHO1","FCN3","FERMT1","FGF20","FGF8","FGFR1","FGFR2","FGFR3","FGFRL1","FH","FKBP6","FLCN","FLI1","FLNA","FLNB","FOCAD","FOXE1","FOXF1","FOXH1","FOXJ1","FOXP3","FRAS1","FREM1","FREM2","GABRD","GAS1","GAS2L2","GAS8","GATA1","GATA6","GCLC","GDF2","GDNF","GFRA1","GLA","GLI2","GMPPB","GNAS","GP1BB","GPC3","GPC4","GPIHBP1","GPR35","GREB1L","GREM1","GSTM3","GTF2H5","GTF2I","GTF2IRD1","GTF2IRD2","GUCY2C","HABP2","HCCS","HDAC8","HEATR3","HELLS","HEPACAM","HFE","HIRA","HLA-B","HLA-DPA1","HLA-DPB1","HLA-DQA1","HLA-DQB1","HLA-DRB1","HMBS","HMGA2","HMOX1","HNRNPK","HNRNPU","HPGD","HPS1","HSD3B7","HSPG2","HYDIN","HYLS1","HYOU1","IDS","IFNGR1","IFT43","IFT74","IGHG2","IGHM","IGKC","IGLL1","IKBKG","IL10","IL10RA","IL10RB","IL12A","IL12A-AS1","IL12RB1","IL21","IL23R","IL2RA","IL37","IL6","INAVA","INPP5E","INSR","IPO8","IRF4","IRF5","IRGM","ISL1","ITCH","ITGA6","ITGA8","ITGB2","ITGB4","IVNS1ABP","JAK1","JAK2","JAK3","JMJD1C","KAT6A","KAT6B","KATNIP","KCNAB2","KCNN4","KDM3B","KDM6A","KEAP1","KIAA0586","KIAA0753","KIF21A","KIF26A","KIF7","KIFBP","KIT","KITLG","KLLN","KLRC4","KMT2D","KRAS","L1CAM","LBR","LBX1","LCT","LEMD3","LETM1","LIG3","LIG4","LIMK1","LIPA","LMNA","LMOD1","LONP1","LPIN2","LRBA","LRP2","LRRC56","LRRC8A","LTBP1","LTBP4","LUZP1","MAD1L1","MAD2L2","MADD","MAP3K7","MASP2","MBD4","MBTPS2","MCC","MCIDAS","MCM6","MDM2","MED12","MEFV","MEN1","METTL27","MID1","MIF","MINPP1","MIR17HG","MITF","MKKS","MKS1","MLH1","MLH3","MLXIPL","MMEL1","MMP21","MMP23B","MNX1","MPI","MSH2","MSH3","MSH6","MST1","MT-CO1","MT-CO2","MT-CO3","MT-ND1","MT-ND4","MT-ND5","MT-ND6","MT-TE","MT-TF","MT-TH","MT-TK","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TW","MTOR","MTRFR","MTTP","MUSK","MUTYH","MVK","MYC","MYCN","MYD88","MYH11","MYLK","MYO1H","MYO5B","MYOD1","MYRF","NAA10","NCF1","NCF2","NCF4","NDUFB11","NEK1","NEK10","NEUROG3","NFKBIA","NHP2","NIPBL","NLRC4","NME5","NME8","NOD2","NODAL","NOP10","NOTCH2","NOTCH3","NPHP1","NPHP3","NPM1","NRAS","NRTN","NSD1","NSD2","NSUN2","NTHL1","NUP88","OCRL","ODAD1","ODAD2","ODAD3","ODAD4","ODC1","OFD1","OPLAH","OTUD5","PACS1","PALB2","PALLD","PARN","PAX3","PCSK1","PDE11A","PDE6D","PDGFRA","PDGFRB","PDGFRL","PDPN","PERCC1","PET117","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PGAP2","PGAP3","PGM3","PHOX2B","PI4KA","PIBF1","PIEZO1","PIGL","PIGN","PIGO","PIGV","PIGW","PIGY","PIK3C2A","PIK3CA","PIK3CD","PIK3CG","PIK3R1","PKD1","PKHD1","PKP1","PLA2G2A","PLA2G4A","PLCG2","PLG","PLVAP","PMM2","PMS1","PMS2","PNLIP","POLA1","POLD1","POLE","POLG","POLR1B","POLR1C","POLR1D","PORCN","POU2AF1","PPOX","PPP1R12A","PRDM16","PRF1","PRKAR1A","PRKCD","PRKCZ","PRMT7","PRSS1","PRSS2","PRTN3","PSTPIP1","PTCH1","PTEN","PTF1A","PTPN12","PTPN22","PTPRJ","PTRH2","RABL3","RAC2","RAD21","RAD51","RAD51C","RAD54B","RAPSN","RARB","RASGRP1","RBCK1","RBM10","RBM8A","RECQL4","RELA","RERE","RET","RFC2","RFWD3","RFX5","RFX6","RFXANK","RFXAP","RHBDF2","RIPK1","RMRP","RNF43","RNU12","ROBO1","RPGR","RPGRIP1L","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS6KA3","RPS7","RREB1","RRM2B","RSPH1","RSPH3","RSPH4A","RSPH9","RTEL1","RTTN","RUNX1","SAA1","SALL1","SALL4","SAR1B","SATB1","SATB2","SBDS","SDHA","SDHB","SDHC","SDHD","SEC23B","SEC24C","SEMA3C","SEMA3D","SEMA4A","SEMA4D","SERPINA1","SERPING1","SETBP1","SETD2","SETD5","SF3B4","SGO1","SH2B1","SH3KBP1","SHH","SHPK","SI","SIN3A","SIX1","SIX3","SKI","SKIC2","SKIC3","SLC10A2","SLC11A1","SLC12A2","SLC18A3","SLC25A12","SLC26A9","SLC29A3","SLC2A2","SLC37A4","SLC39A4","SLC39A7","SLC46A1","SLC51B","SLC5A1","SLC6A14","SLC6A19","SLC6A8","SLC7A7","SLC9A3","SLCO2A1","SLX4","SMAD2","SMAD4","SMAD7","SMARCAL1","SMC1A","SMC3","SMO","SNAI2","SOCS1","SON","SOX10","SPAG1","SPEF2","SPEN","SPI1","SPIB","SPINK1","SPINK5","SPINT2","SRC","SRCAP","SREBF1","SRP54","SRSF2","STAG2","STAT1","STAT3","STAT4","STAT5B","STK11","STK36","STRA6","STX11","STX1A","STX3","STXBP2","SUFU","SYK","TBC1D7","TBCE","TBL2","TBX1","TCF3","TCF4","TCOF1","TCTN1","TCTN2","TCTN3","TDGF1","TEK","TERC","TERT","TET2","TFAP2A","TGFB1","TGFBR2","TGIF1","TINF2","TJP2","TLR2","TLR4","TMEM138","TMEM216","TMEM218","TMEM231","TMEM237","TMEM270","TMEM67","TMEM94","TMPRSS6","TNFAIP3","TNFRSF1A","TNFSF15","TNPO3","TOGARAM1","TOM1","TP53","TP63","TREH","TRIP13","TRMT5","TSR2","TTC12","TTC7A","TTR","TUBA1A","TWNK","TYMP","TYMS","TYR","UBAC2","UBE2T","UBE3B","UBE4B","UBR1","UFD1","UNC13D","UNC45A","USB1","USF3","VANGL1","VARS1","VPS35L","VPS37D","VPS51","WAC","WAS","WASHC5","WBP11","WFS1","WIPF1","WNT2B","WNT4","WNT7B","WNT9B","WRAP53","WT1","XIAP","XRCC2","XRCC4","XYLT2","ZAP70","ZBTB24","ZEB2","ZFPM2","ZIC2","ZIC3","ZMPSTE24","ZMYND10","ZNF423","ZNF699","ZPR1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PROTEIN_LOSING_ENTEROPATHY":{"collection":"C5:HPO","systematicName":"M35729","pmid":"","exactSource":"HP:0002243","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002243","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROTEIN_LOSING_ENTEROPATHY","geneSymbols":["ADAMTS3","ALG1","ALG6","ALG8","BLNK","BMPR1A","CARD8","CCBE1","CD55","COG8","DGAT1","DZIP1L","FOCAD","MPI","PET117","PIK3C2A","PKHD1","PLVAP","PTEN","STAT1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_SMALL_INTESTINE_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M35730","pmid":"","exactSource":"HP:0002244","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002244","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SMALL_INTESTINE_MORPHOLOGY","geneSymbols":["ABCB11","ACOX2","ACTG2","ADAM17","ADAMTS3","AKR1D1","ALDH18A1","ALG1","ALG3","ALG6","ALG8","ALG9","AMACR","ANTXR2","AP1S1","APOB","ARID1B","ATP8B1","BICRA","BLNK","BMPR1A","BRCA1","BRCA2","BRIP1","BUB1","BUB1B","BUB3","CAMK2A","CARD8","CCBE1","CCDC47","CD55","CDC45","CDKN1A","CDKN1B","CDKN2B","CDKN2C","CDON","CEACAM3","CEACAM6","CENPF","CEP57","CFAP45","CFTR","CHD7","CHST14","CIITA","CLCA4","CLMP","COG8","COX4I2","CPLX1","CTBP1","CTRC","CXCR4","CYP7B1","DCTN4","DEF6","DGAT1","DIS3L2","DISP1","DLL1","DNAJC21","DSE","DYRK1A","DZIP1L","EDNRA","EFEMP2","EFL1","ELN","EP300","EPCAM","ERCC4","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FBLN5","FBN2","FCGR2A","FGF8","FGFR1","FGFRL1","FLI1","FLNA","FOCAD","FOXF1","FOXH1","FOXP3","FRAS1","GAS1","GATA1","GCLC","GLI2","GMPPB","GPC3","GPC4","GPR35","GSTM3","GTF2H5","HFE","HLA-DQA1","HLA-DQB1","HMOX1","HSD3B7","IGHG2","IGKC","IL12A","IL12RB1","IL2RA","IPO8","IRF5","IVNS1ABP","KAT6B","KCNN4","KDM3B","LBR","LCT","LETM1","LIPA","LRBA","LTBP1","MAD2L2","MCM6","MED12","MEN1","MIF","MIR17HG","MLXIPL","MMEL1","MPI","MST1","MTTP","MYCN","MYH11","MYO5B","NLRC4","NODAL","NSD2","ODC1","PALB2","PCSK1","PERCC1","PET117","PEX12","PI4KA","PIGN","PIK3C2A","PKHD1","PLA2G4A","PLG","PLVAP","PMM2","PNLIP","PORCN","POU2AF1","PPP1R12A","PRSS1","PRSS2","PTCH1","PTEN","PTF1A","PTRH2","RAD21","RAD51","RAD51C","RARB","RBM10","RBM8A","RELA","RERE","RFWD3","RFX5","RFX6","RFXANK","RFXAP","RTTN","SALL1","SAR1B","SATB2","SBDS","SEMA4D","SERPINA1","SHH","SHPK","SIX3","SKIC2","SKIC3","SLC10A2","SLC11A1","SLC25A12","SLC26A9","SLC51B","SLC6A14","SLC7A7","SLC9A3","SLX4","SOCS1","SPIB","SPINK1","SPINK5","SRCAP","SRP54","STAG2","STAT1","STAT3","STAT5B","STRA6","STX1A","STX3","SUFU","SYK","TBC1D7","TCF4","TDGF1","TGFB1","TGIF1","TJP2","TNFAIP3","TNFSF15","TNPO3","TOM1","TRIP13","TTC7A","UBE2T","UNC45A","WAC","WBP11","WNT2B","WNT4","WNT7B","XRCC2","XYLT2","ZIC2","ZIC3","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MECKEL_DIVERTICULUM":{"collection":"C5:HPO","systematicName":"M46072","pmid":"","exactSource":"HP:0002245","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002245","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MECKEL_DIVERTICULUM","geneSymbols":["BRCA1","BRCA2","BRIP1","ERCC4","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FGFR1","FOXF1","GPC3","GPC4","GTF2H5","MAD2L2","PALB2","RAD51","RAD51C","RBM10","RBM8A","RFWD3","RFX6","SLX4","UBE2T","XRCC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_DUODENUM_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M35731","pmid":"","exactSource":"HP:0002246","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002246","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_DUODENUM_MORPHOLOGY","geneSymbols":["ACTG2","ADAM17","ARID1B","BRCA1","BRCA2","BRIP1","BUB1","BUB1B","BUB3","CAMK2A","CARD8","CDC45","CDKN1A","CDKN1B","CDKN2B","CDKN2C","CDON","CENPF","CEP57","CFAP45","CHD7","CHST14","DISP1","DLL1","DYRK1A","EP300","ERCC4","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FBN2","FGF8","FGFR1","FLI1","FOXF1","FOXH1","GAS1","GATA1","GLI2","IPO8","KDM3B","MAD2L2","MEN1","MYCN","MYH11","NODAL","PALB2","PIGN","PLA2G4A","PLG","PORCN","PTCH1","RAD21","RAD51","RAD51C","RARB","RBM10","RERE","RFWD3","RFX6","RTTN","SALL1","SHH","SIX3","SLX4","STAG2","STRA6","SUFU","SYK","TDGF1","TGIF1","TRIP13","TTC7A","UBE2T","WBP11","WNT7B","XRCC2","XYLT2","ZIC2","ZIC3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DUODENAL_ATRESIA":{"collection":"C5:HPO","systematicName":"M35732","pmid":"","exactSource":"HP:0002247","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002247","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DUODENAL_ATRESIA","geneSymbols":["BUB1","BUB1B","BUB3","CAMK2A","CDON","CENPF","CEP57","CFAP45","CHD7","DISP1","DLL1","DYRK1A","FANCB","FANCF","FBN2","FGF8","FGFR1","FLI1","FOXF1","FOXH1","GAS1","GLI2","KDM3B","MYCN","NODAL","PIGN","PORCN","PTCH1","RERE","RFWD3","RFX6","RTTN","SALL1","SHH","SIX3","STAG2","SUFU","TDGF1","TGIF1","TRIP13","TTC7A","WBP11","ZIC2","ZIC3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HEMATEMESIS":{"collection":"C5:HPO","systematicName":"M35733","pmid":"","exactSource":"HP:0002248","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002248","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEMATEMESIS","geneSymbols":["ACVRL1","ATRX","CDKN1A","CDKN1B","CDKN2B","CDKN2C","DAXX","ENG","FGA","FGB","FGG","GP1BA","GP1BB","GP9","IFIH1","MED12","MEN1","PKHD1","WAS","WIPF1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MELENA":{"collection":"C5:HPO","systematicName":"M35734","pmid":"","exactSource":"HP:0002249","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002249","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MELENA","geneSymbols":["ACVRL1","APC","ATRX","BMPR1A","CD109","CDKN1A","CDKN1B","CDKN2B","CDKN2C","DAXX","ENG","FAH","GP1BA","GP1BB","ITGA2","ITGA2B","ITGB3","KIF23","MEN1","PTEN","RACGAP1","SREBF1","WAS"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_LARGE_INTESTINE_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M35735","pmid":"","exactSource":"HP:0002250","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002250","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LARGE_INTESTINE_MORPHOLOGY","geneSymbols":["AAGAB","ABCB1","ACADVL","ACTG2","ADA2","AKT1","AP1S1","APC","ARPC1B","AURKA","AXIN2","BACH2","BAX","BAZ1B","BCL10","BCL7B","BCOR","BLM","BMPR1A","BRAF","BRCA1","BRCA2","BUB1","BUB1B","BUB3","BUD23","C1S","CARD11","CARD8","CARMIL2","CASP10","CCBE1","CCND1","CCNQ","CDK8","CDKN2A","CEACAM3","CEACAM6","CEP57","CFTR","CHEK2","CIITA","CLCA4","CLIP2","COG6","COL14A1","COL1A1","COL5A1","COL5A2","COX7B","CTLA4","CTNNB1","CYBA","CYBB","CYBC1","DACT1","DCC","DCLRE1B","DCTN4","DDB1","DEF6","DICER1","DLC1","DNAJC30","DOCK2","DOCK8","EDNRA","EIF4H","ELANE","ELF4","ELN","ENG","EP300","EPCAM","ERBB3","F13A1","F13B","FAN1","FAS","FASLG","FCGR2A","FCHO1","FCN3","FERMT1","FGFR3","FH","FKBP6","FLCN","FLNB","FOXE1","FOXP3","FREM1","FREM2","GATA1","GATA6","GCLC","GPIHBP1","GPR35","GREM1","GSTM3","GTF2I","GTF2IRD1","GTF2IRD2","GUCY2C","HABP2","HCCS","HEATR3","HEPACAM","HFE","HLA-B","HLA-DRB1","HMOX1","HPS1","IGHM","IKBKG","IL10RA","IL10RB","IL21","IL37","IL6","INAVA","INSR","IRGM","ITGB2","IVNS1ABP","JAK1","JAK3","KCNN4","KEAP1","KIF7","KIT","KLLN","KRAS","LIG4","LIMK1","LMNA","LMOD1","LONP1","LRBA","LTBP4","MAD1L1","MAP3K7","MASP2","MBD4","MCC","MDM2","MED12","MEFV","METTL27","MID1","MIF","MINPP1","MKKS","MLH1","MLH3","MLXIPL","MNX1","MSH2","MSH3","MSH6","MST1","MUTYH","MYH11","MYLK","NAA10","NCF1","NCF2","NCF4","NDUFB11","NFKBIA","NIPBL","NLRC4","NOD2","NRAS","NSUN2","NTHL1","OPLAH","OTUD5","PALB2","PALLD","PDE11A","PDGFRA","PDGFRL","PERCC1","PI4KA","PIGN","PIGV","PIGY","PIK3CA","PIK3CD","PIK3CG","PKD1","PLA2G2A","PLCG2","PMS1","PMS2","POLA1","POLD1","POLE","POLG","POLR1B","POLR1C","POLR1D","PRF1","PRKAR1A","PRKCD","PRMT7","PSTPIP1","PTEN","PTPN12","PTPRJ","RABL3","RAC2","RAD51C","RAD54B","RASGRP1","RBCK1","RECQL4","RET","RFC2","RFX5","RFXANK","RFXAP","RHBDF2","RIPK1","RNF43","RNU12","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS6KA3","RPS7","RTEL1","SALL1","SALL4","SDHA","SDHB","SDHC","SDHD","SEC23B","SEMA4A","SEMA4D","SERPINA1","SH3KBP1","SKIC2","SKIC3","SLC11A1","SLC26A9","SLC37A4","SLC6A14","SLC9A3","SMAD4","SMAD7","SOX10","SPINT2","SRC","STAT1","STK11","STX11","STX1A","STXBP2","SYK","TBL2","TCF4","TCOF1","TCTN3","TFAP2A","TGFB1","TGFBR2","TLR2","TMEM270","TNFAIP3","TOM1","TP53","TRIP13","TSR2","TTC7A","TYMP","UBR1","UNC13D","USF3","VANGL1","VPS37D","WAS","WIPF1","XIAP","ZAP70","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INTERMITTENT_DIARRHEA":{"collection":"C5:HPO","systematicName":"M35738","pmid":"","exactSource":"HP:0002254","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002254","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTERMITTENT_DIARRHEA","geneSymbols":["ACSF3","ATP6V0A1","ATRX","BRCA1","BRCA2","CDKN2A","COG4","DAXX","DOCK2","G6PC1","GATA6","KRAS","PALB2","PALLD","POLG","RABL3","SMAD4","TLK2","TP53","TYMP","UBE3C","ZNFX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SMALL_BOWEL_DIVERTICULA":{"collection":"C5:HPO","systematicName":"M45402","pmid":"","exactSource":"HP:0002256","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002256","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SMALL_BOWEL_DIVERTICULA","geneSymbols":["ALDH18A1","EFEMP2","ELN","FBLN5","LTBP1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CHRONIC_RHINITIS":{"collection":"C5:HPO","systematicName":"M35739","pmid":"","exactSource":"HP:0002257","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002257","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHRONIC_RHINITIS","geneSymbols":["ALG12","CCDC103","CCDC39","CCDC40","CCDC65","CCNO","CFAP221","CFAP298","CFAP300","CFAP74","CLCN7","DNAAF1","DNAAF11","DNAAF2","DNAAF3","DNAAF4","DNAAF5","DNAAF6","DNAH1","DNAH11","DNAH5","DNAH9","DNAI1","DNAI2","DNAJB13","DNAL1","DRC1","FOXJ1","GAS2L2","GAS8","HYDIN","LRRC56","MCIDAS","NEK10","NLRP1","NME5","NME8","ODAD1","ODAD2","ODAD3","ODAD4","OFD1","RAG1","RAG2","RPGR","RSPH1","RSPH3","RSPH4A","RSPH9","SASH3","SLC29A3","SNX10","SPAG1","SPEF2","SPINK5","STK36","TCIRG1","TNFSF11","TTC12","ZMYND10"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_EXAGGERATED_CUPID_S_BOW":{"collection":"C5:HPO","systematicName":"M35740","pmid":"","exactSource":"HP:0002263","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002263","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EXAGGERATED_CUPID_S_BOW","geneSymbols":["ATP1A2","ATP1A3","B3GLCT","CACNA1A","CAMSAP1","CHD8","CLCN3","DLK1","DNMT3A","EXOC2","FOXG1","GPC4","H3-3A","HNRNPK","HNRNPU","JARID2","KIF7","KMT2A","MED25","MED27","MEG3","NRCAM","NXN","PIGT","RALA","ROR2","RTL1","SLC1A3","SLC35A2","SMARCA2","SNIP1","SOX4","SUPT16H","TBCK","TMEM94","TRIP12","ZMIZ1","ZNF462"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LARGE_FLESHY_EARS":{"collection":"C5:HPO","systematicName":"M35741","pmid":"","exactSource":"HP:0002265","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002265","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LARGE_FLESHY_EARS","geneSymbols":["ALG9","ATP6V1B2","COLEC10","COLEC11","KCNH1","KCNMA1","KCNN3","MASP1","NARS1","PIGN","TAPT1","TBL1XR1","TNPO2","TRAPPC9"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FOCAL_CLONIC_SEIZURE":{"collection":"C5:HPO","systematicName":"M35742","pmid":"","exactSource":"HP:0002266","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002266","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOCAL_CLONIC_SEIZURE","geneSymbols":["ADAM22","ATP1A3","CACNA2D1","CUX2","DMXL2","FRRS1L","FZR1","GABBR2","GABRA1","GABRG2","GLYCTK","GNB1","GRIN2A","KANSL1","KCNK4","KCNQ2","KCNQ3","KCNT1","LGI1","MICAL1","PACS2","PCDH12","PCDH19","PEX3","PIGA","PLCB1","PRRT2","RELN","SCN1A","SCN1B","SCN2A","SCN8A","SCN9A","SLC12A5","SLC25A22","SMARCAL1","SRPX2","ST3GAL3","TBC1D24","UFSP2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_EXAGGERATED_STARTLE_RESPONSE":{"collection":"C5:HPO","systematicName":"M35743","pmid":"","exactSource":"HP:0002267","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002267","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EXAGGERATED_STARTLE_RESPONSE","geneSymbols":["ARHGEF9","ASNS","BRAT1","CACNA1I","DDC","DENND5A","FKTN","FLRT1","GLB1","GLRA1","GLRB","GM2A","GPHN","GRIA4","HEXA","HEXB","HIKESHI","KLC2","MED11","MTHFS","PLAA","PURA","SLC6A5","SLC6A9","SOD1","TNIK","TRAK1","TSPYL1","ZMYM2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PAROXYSMAL_DYSTONIA":{"collection":"C5:HPO","systematicName":"M35744","pmid":"","exactSource":"HP:0002268","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002268","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PAROXYSMAL_DYSTONIA","geneSymbols":["CABP4","CHRNA2","CHRNA4","CHRNB2","CRH","DEPDC5","DLAT","FARS2","KCNT1","PNKD","PRDM13","PRRT2","RHOBTB2","SEPSECS","SLC2A1","TBC1D24","TSEN15","TSEN2","TSEN34","TSEN54"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_NEURONAL_MIGRATION":{"collection":"C5:HPO","systematicName":"M35745","pmid":"","exactSource":"HP:0002269","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002269","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_NEURONAL_MIGRATION","geneSymbols":["ACTB","ACTG1","ADAMTS3","ADD3","ADGRG1","ADGRL1","AHDC1","AHI1","AIPL1","AKT1","AKT3","ALDH6A1","ALG11","ALG12","ANKLE2","ANKRD11","APC2","ARF1","ARFGEF2","ARHGAP31","ARHGEF9","ARID1A","ARID1B","ARID2","ARL13B","ARL3","ARMC9","ARX","ASCC1","ASNS","ASPM","ASXL1","ATN1","ATP1A2","ATP1A3","ATP6V0A2","ATP6V1A","ATP6V1B2","ATP6V1E1","ATR","ATXN2","B3GALNT2","B4GAT1","B9D1","B9D2","BICD2","BLTP1","BMPER","C2CD3","CAMSAP1","CAMTA1","CASK","CBY1","CC2D2A","CCBE1","CCDC22","CCDC88A","CCND2","CDC40","CDH2","CDK5","CDK5RAP2","CDK6","CDKL5","CDON","CENPE","CENPJ","CEP104","CEP120","CEP135","CEP152","CEP290","CEP41","CEP63","CEP85L","CILK1","CIT","CLP1","CNTNAP2","COG6","COL18A1","COL25A1","COL3A1","COL4A1","COL4A2","COPB2","CPLANE1","CPLX1","CPT2","CRADD","CRB1","CRB2","CRPPA","CRX","CSF1R","CSGALNACT1","CSNK2A1","CSPP1","CTNNA2","CTU2","CUL4B","DAG1","DCHS1","DCX","DEPDC5","DHCR24","DHCR7","DHX16","DHX37","DISC1","DISP1","DLK1","DLL1","DMXL2","DOCK6","DONSON","DPF2","DPYSL5","DYNC1H1","DYNC1I2","DYRK1A","EIF2AK2","EML1","EOMES","EPG5","ERCC1","ERMARD","ETFA","ETFB","ETFDH","EXOC7","EXOSC5","FAM149B1","FAT4","FBXO28","FDFT1","FGF8","FGFR3","FH","FIG4","FKRP","FKTN","FLI1","FLNA","FLVCR2","FMR1","FOXG1","FOXH1","FRAS1","FRMD5","FTO","GAS1","GDF6","GFM2","GGT1","GLI2","GLS","GMNN","GMPPB","GNAO1","GNB1","GON7","GPHN","GPSM2","GPX4","GRIN1","GRM7","GUCY2D","HIC1","HNRNPK","HSD17B4","HYLS1","IBA57","IER3IP1","IFT140","IFT74","IMPDH1","INPP5E","INTS8","IQCB1","ISCA1","JAM2","KANSL1","KAT5","KAT6B","KAT8","KATNB1","KATNIP","KCNA1","KCNJ13","KIAA0586","KIAA0753","KIF11","KIF14","KIF21A","KIF26A","KIF2A","KIF5C","KIF7","KIFBP","KLHL15","KNL1","LAGE3","LAMA1","LAMA2","LAMB1","LAMC3","LARGE1","LCA5","LIPT2","LMBRD2","LMNB1","LMNB2","LONP1","LRAT","LRPPRC","MACF1","MAGEL2","MAN1B1","MAN2C1","MAP1B","MAPK8IP3","MAST1","MBOAT7","MCM7","MCPH1","MECP2","MED11","MED12","MED27","MEG3","METTL5","MFSD2A","MICU1","MKS1","MLH1","MLYCD","MN1","MPDZ","MTOR","MYORG","NANS","NARS1","NBN","NCAPD3","NDE1","NDN","NDUFA6","NEDD4L","NEK1","NEUROD2","NFIX","NMNAT1","NODAL","NPHP1","NPRL2","NPRL3","NRCAM","NSDHL","NSRP1","NUP107","NUP133","NUP37","OCA2","OCLN","ODC1","OFD1","OSGEP","PAFAH1B1","PAX6","PCYT1A","PDCD6IP","PDE6D","PDGFB","PDGFRB","PDHA1","PDHB","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PHC1","PHGDH","PHOX2A","PI4KA","PIBF1","PIDD1","PIGB","PIGP","PIGQ","PIK3CA","PIK3R2","PLAA","PLCH1","PLK4","PLP1","PMS2","PNKP","POLR3A","POMGNT1","POMGNT2","POMK","POMT1","POMT2","POU4F1","PPFIBP1","PPIL1","PPP1R12A","PRKDC","PRORP","PSAT1","PTCH1","PTEN","PYCR2","QARS1","RAB18","RAB3GAP1","RAB3GAP2","RAC1","RALGAPA1","RD3","RDH12","RECQL4","RELN","RMND1","RNU12","RNU4ATAC","ROBO1","RPE65","RPGRIP1","RPGRIP1L","RPS6KA3","RTL1","RTTN","RXYLT1","SARS1","SASS6","SCN1B","SCN2A","SCN3A","SEPSECS","SF3B4","SHH","SHMT2","SIK1","SIN3A","SIX3","SLC20A2","SLC25A19","SLC25A22","SLC25A24","SLC30A9","SLC32A1","SLC5A6","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SMO","SMPD4","SNAP29","SNRPN","SON","SOX11","SOX4","SPATA7","SPEN","SPOP","SRD5A3","SRPX2","STAMBP","STIL","STS","SUFU","SUZ12","TAF13","TBC1D20","TBC1D24","TBL1XR1","TBR1","TCTN1","TCTN2","TCTN3","TDGF1","TGIF1","THOC2","TMEM107","TMEM138","TMEM216","TMEM218","TMEM222","TMEM231","TMEM237","TMEM67","TMTC3","TMX2","TOGARAM1","TOPORS","TP53RK","TP73","TPRKB","TRAIP","TRAPPC10","TRAPPC12","TRAPPC14","TRIM8","TRMT10C","TRRAP","TSEN15","TSEN2","TSEN34","TSEN54","TTC5","TUBA1A","TUBA8","TUBB","TUBB2A","TUBB2B","TUBB3","TUBB4B","TUBG1","TUBGCP2","TUBGCP4","TUBGCP6","TUFM","TULP1","USP18","USP45","USP9X","VAC14","VIPAS39","VLDLR","VPS33B","VPS35L","VPS4A","WARS1","WASHC5","WDR26","WDR4","WDR62","WDR73","WT1","WWOX","XPR1","XRCC4","YRDC","YWHAE","ZEB2","ZIC2","ZMIZ1","ZNF292","ZNF335","ZNF423","ZNF526","ZNHIT3","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_AUTONOMIC_NERVOUS_SYSTEM":{"collection":"C5:HPO","systematicName":"M43271","pmid":"","exactSource":"HP:0002270","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002270","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_AUTONOMIC_NERVOUS_SYSTEM","geneSymbols":["AAAS","ABCD1","ACOX1","ACTG2","ADH1C","AHI1","AKAP9","ANK2","APC2","ARL13B","ARL3","ARL6","ARMC9","ARSA","ARVCF","ARX","ASCL1","ATL1","ATL3","ATP1A2","ATP1A3","ATP7A","ATRX","ATXN2","ATXN3","ATXN8OS","B2M","B9D1","B9D2","BBS1","BCOR","BDNF","BRAT1","BRCA1","BRCA2","BRIP1","CACNA1A","CACNA1C","CALM1","CALM2","CALM3","CAV1","CAV3","CBY1","CC2D2A","CCDC28B","CCT5","CDON","CEP104","CEP120","CEP290","CEP41","CHCHD2","CHRNA3","CISD2","COL1A1","COL25A1","COL5A1","COL5A2","COMT","COQ2","CPLANE1","CSPP1","CYB561","CYP11B2","DBH","DDX3X","DDX59","DEPDC5","DHCR7","DISP1","DLL1","DNAJC13","DNAJC6","ECE1","EDN3","EDNRB","EIF4G1","ELP1","ERBB2","ERBB3","ERCC4","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FBXO7","FGF8","FGFR1","FMR1","FOXF1","FOXH1","GABBR2","GAS1","GATA1","GBA1","GBE1","GCK","GDNF","GFAP","GIGYF2","GLA","GLI2","GLUD2","GMPPA","GNB2","GP1BB","GSN","HEXB","HIRA","HTRA2","HYLS1","IFT74","IL12A","IL12RB1","IL6ST","INPP5E","IRF5","JMJD1C","KATNIP","KCNE1","KCNE2","KCNH2","KCNJ5","KCNQ1","KIAA0586","KIAA0753","KIF1B","KIFBP","KIT","KITLG","KRAS","L1CAM","LBX1","LEP","LEPR","LGI1","LIFR","LMNB1","LRRK2","MAD2L2","MAPT","MBTPS2","MECP2","MITF","MKKS","MKS1","MMEL1","MT-TT","MYO1H","NAA10","NODAL","NOS1AP","NPHP1","NR4A2","NRTN","NSD1","NTRK1","OFD1","PALB2","PARK7","PAX3","PDE6D","PGAP2","PGAP3","PHOX2B","PIBF1","PIGL","PIGN","PIGO","PIGV","PIGW","PIGY","PINK1","PLA2G6","PLCH1","PODXL","POLR3A","POU2AF1","PPOX","PRKN","PRNP","PSAP","PTCH1","RAD21","RAD51","RAD51C","RELN","RET","RFC1","RFWD3","RMRP","RPGRIP1L","RREB1","SALL4","SCN10A","SCN11A","SCN3A","SCN4B","SCN5A","SCN9A","SEC24C","SEMA3C","SEMA3D","SETBP1","SETD2","SF3B4","SH2B1","SHH","SIM1","SIX3","SLC18A2","SLC1A3","SLC6A2","SLC6A8","SLX4","SMC1A","SMO","SNAI2","SNCA","SNCAIP","SNTA1","SOX10","SPG11","SPIB","SPTLC1","SPTLC2","SREBF1","STAG2","STIL","SUFU","SYNE1","SYNJ1","TBP","TBX1","TBX5","TCF4","TCTN1","TCTN2","TCTN3","TDGF1","TGIF1","TMEM138","TMEM216","TMEM218","TMEM231","TMEM237","TMEM67","TNFSF15","TNPO3","TOGARAM1","TRDN","TSPYL1","TTR","TUBA1A","TUBB3","TWNK","TXN2","TYR","UBE2T","UCHL1","UFD1","VPS11","VPS13A","VPS13C","VPS35","WDR45","WFS1","XRCC2","ZEB2","ZFHX4","ZIC2","ZNF423"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_TETRAPARESIS":{"collection":"C5:HPO","systematicName":"M35746","pmid":"","exactSource":"HP:0002273","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002273","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TETRAPARESIS","geneSymbols":["AASS","ABCD1","ADAR","AFF3","AGTPBP1","AIFM1","ALG3","ALS2","APOE","ARFGEF2","ARX","ATP1A2","ATP1A3","ATP5F1A","ATP6V1A","AUH","BSCL2","C9orf72","CA2","CACNA1A","CARS2","CHCHD10","COA8","COL4A1","DYM","EARS2","EIF2S3","ERLIN2","EXOSC8","FA2H","FAR1","FBLN1","FUS","GAD1","GALC","GBE1","GJA1","GM2A","GSS","GUF1","HINT1","HSD17B10","IFIH1","KCNJ6","KCNQ2","L2HGDH","LIMS2","LIPT1","LIPT2","LMNB1","LMX1B","LRP4","LYRM7","MFSD2A","MOCS1","MRM2","MT-ATP6","NAXE","NDUFS3","NEK1","NEXMIF","NFU1","NMNAT1","NUP54","NUP62","PAFAH1B1","PDHX","PHACTR1","PLA2G6","PLP1","PNP","POLG","POLR3K","PPOX","PRDM8","PRPS1","PRUNE1","PSAP","PSAT1","PSEN1","REEP1","RERE","RNU7-1","SARDH","SDHA","SDHAF1","SDHB","SDHD","SLC18A2","SLC19A3","SLC1A2","SLC1A3","SLC25A10","SLC35A2","SMC1A","SOD1","SOX4","SQSTM1","STAMBP","STXBP1","TACO1","TARDBP","TBCE","TBK1","TMEM222","TNFRSF11A","TNR","TRAPPC4","TUBB2B","UCHL1","UGP2","VCP","WDR62"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_POOR_MOTOR_COORDINATION":{"collection":"C5:HPO","systematicName":"M35747","pmid":"","exactSource":"HP:0002275","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002275","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POOR_MOTOR_COORDINATION","geneSymbols":["AASS","ACTA1","ADGRV1","ALMS1","ATP7B","ATP9A","BMPR1B","BSCL2","CAMTA1","CLN5","CUX1","CXCR4","DARS2","DCC","DCX","DLK1","DMPK","DNAL4","EZH2","FKRP","FMR1","FOCAD","FOXP2","FXN","GABRA1","GABRD","GABRG2","GCDH","GDAP1","GMPPB","GNB5","GNE","HCN1","HERC2","HTT","KBTBD13","KCNQ2","KLHL41","LARGE1","MAGEL2","MEG3","MFN2","MKRN3","MMACHC","MTRFR","MYPN","NEB","NPAP1","NTN1","PCDH19","PDHX","PIEZO2","PMPCA","POMT1","POMT2","PPP2R2B","PRNP","PWAR1","PWRN1","RAD51","RAI1","RDH11","RNU12","RTL1","SBF2","SCN1A","SCN1B","SCN2A","SCN9A","SIN3A","SLC2A3","SLC30A10","SNORD115-1","SNORD116-1","STX1B","THG1L","TPM2","TPM3","VCP","VPS13A","ZEB2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ENLARGED_CISTERNA_MAGNA":{"collection":"C5:HPO","systematicName":"M35748","pmid":"","exactSource":"HP:0002280","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002280","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ENLARGED_CISTERNA_MAGNA","geneSymbols":["ACADVL","AFF3","ALDH18A1","ALDH7A1","APC2","BANF1","BRF1","CDH2","CLP1","CNOT3","COG1","CPLANE1","CSF1R","CSPP1","CTU2","DPH5","EDEM3","EXOSC8","FAR1","FBXO28","FLNB","FOXC1","IL6ST","KATNB1","KIAA0586","MAN2B1","MAPKAPK5","NDUFC2","NEK8","NSD1","OFD1","OPHN1","PACS2","PIGU","PITX1","PLCH1","PLPBP","PMM2","PMPCA","POGZ","POLR2A","POMK","POMT1","PRX","RAB18","RAC1","RNU12","SETD2","SH2B1","SH3PXD2B","SLC31A1","SLC35A2","SLC5A6","SUFU","TIMMDC1","VPS51","VRK1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_GRAY_MATTER_HETEROTOPIA":{"collection":"C5:HPO","systematicName":"M35749","pmid":"","exactSource":"HP:0002282","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002282","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GRAY_MATTER_HETEROTOPIA","geneSymbols":["ADD3","ADGRL1","AKT1","AKT3","ALDH6A1","ALG11","ANKLE2","ANKRD11","APC2","ARF1","ARFGEF2","ARMC9","ASPM","ASXL1","B4GAT1","BLTP1","C2CD3","CDH2","CDK5RAP2","CDK6","CENPE","CENPJ","CEP135","CEP152","CEP63","CEP85L","CIT","COL4A2","COPB2","CPLANE1","CPLX1","CRB2","CRPPA","CSF1R","CSGALNACT1","DCHS1","DCX","DHCR7","DHX16","EML1","EPG5","ERMARD","FAT4","FGFR3","FKRP","FKTN","FLNA","FMR1","GGT1","GMPPB","GPSM2","HNRNPK","HYLS1","INTS8","KANSL1","KAT6B","KAT8","KATNB1","KIF14","KIF2A","KNL1","LAMA1","LAMB1","LMBRD2","MAN1B1","MAN2C1","MAP1B","MAST1","MCM7","MCPH1","MED12","METTL5","MFSD2A","MLH1","MPDZ","MTOR","NCAPD3","NEDD4L","NRCAM","NUP37","OFD1","PAFAH1B1","PDHB","PEX1","PEX14","PHC1","PIK3CA","PLCH1","PLK4","PMS2","POMGNT1","POMK","POMT1","POMT2","PPFIBP1","PPP1R12A","PRORP","PTEN","PYCR2","RALGAPA1","RNU4ATAC","RTTN","SARS1","SASS6","SLC25A24","SPEN","STIL","TAF13","TBC1D24","TMEM107","TMTC3","TRAPPC10","TRAPPC14","TUBA1A","TUBB","TUBB2B","TUBG1","TUBGCP2","USP18","VPS35L","WARS1","WDR62","ZEB2","ZMIZ1","ZNF292","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_GLOBAL_BRAIN_ATROPHY":{"collection":"C5:HPO","systematicName":"M35750","pmid":"","exactSource":"HP:0002283","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002283","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GLOBAL_BRAIN_ATROPHY","geneSymbols":["ABCD1","ACTL6B","AGTPBP1","AIMP1","ALG13","ALG9","ARX","ASNS","CAD","CARS2","CHCHD10","CNPY3","COPB1","CSF1R","CYB5A","CYB5R3","CYLD","CYP27A1","DHCR7","DOHH","DPAGT1","ERCC6","FUS","GABRA1","GABRG2","GFM1","GNB1","L2HGDH","LYRM7","NAXE","NUP214","OTUD5","PANK2","PCDH19","PIGT","PLA2G6","PLP1","PNPO","PRNP","PSAP","PUF60","PYCR2","RAB3GAP2","RNF113A","SATB1","SCN1A","SCN1B","SCN2A","SCN9A","SMG9","SNCA","SON","SPATA5","SQSTM1","ST3GAL5","SUCLA2","TANGO2","TARDBP","TBCK","TBK1","TDP1","TIMM8A","TPK1","TXN2","UNC80","VARS1","VCP","WARS2","WDR81"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FAIR_HAIR":{"collection":"C5:HPO","systematicName":"M35751","pmid":"","exactSource":"HP:0002286","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002286","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FAIR_HAIR","geneSymbols":["ABCA2","AP3B1","BLOC1S5","DPP9","IFT140","KANSL1","LPAR6","MOGS","PAH","PDE4D","PIGN","RMRP","SLC17A5","SLC24A5","SNRPN","TAFAZZIN","TP63","UBE3A","UBR1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ALOPECIA_UNIVERSALIS":{"collection":"C5:HPO","systematicName":"M35752","pmid":"","exactSource":"HP:0002289","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002289","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ALOPECIA_UNIVERSALIS","geneSymbols":["AHSG","AIRE","DSP","HR","IL2RA","LMNA","PERP","PKP1","SNRPE","TRPV3","VDR"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FRONTAL_BALDING":{"collection":"C5:HPO","systematicName":"M41257","pmid":"","exactSource":"HP:0002292","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002292","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FRONTAL_BALDING","geneSymbols":["ABCD1","ALMS1","AP2M1","CHD2","CNBP","DMPK","GJA5","GJA8","NEXMIF","NR3C1","PQBP1","SCN1A","SLC2A1","SLC6A1","SYNGAP1","WNT4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ALOPECIA_OF_SCALP":{"collection":"C5:HPO","systematicName":"M35753","pmid":"","exactSource":"HP:0002293","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002293","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ALOPECIA_OF_SCALP","geneSymbols":["AARS1","CARS1","CDSN","CLDN1","COL17A1","COL18A1","COL3A1","DCLRE1C","EBP","ECM1","ERCC2","ERCC3","GATA1","GJB2","GJB6","GTF2E2","GTF2H5","HTRA1","ITGB4","KDF1","KLHL24","KRT14","KRT74","LAMA3","LAMB3","LAMC2","MAP2K2","MBTPS2","MPLKIP","PI4KA","PKP1","PLEC","POLR3A","RHOA","RNF113A","SASH1","SLC27A4","SLC29A3","SLC39A4","TARS1","TP63","TTC7A","UROD","UROS","WRN"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RED_HAIR":{"collection":"C5:HPO","systematicName":"M35754","pmid":"","exactSource":"HP:0002297","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002297","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RED_HAIR","geneSymbols":["MC1R","OCA2","PCSK1","PDE4D","POMC","PRKAR1A","TYRP1","ZNF469"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABSENT_HAIR":{"collection":"C5:HPO","systematicName":"M35755","pmid":"","exactSource":"HP:0002298","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002298","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_HAIR","geneSymbols":["ALX1","ANAPC1","APOE","AR","AXIN2","BRAF","CDH3","CDSN","CWC27","CYP17A1","DSP","EDA","EDARADD","EPS8L3","FGF10","FRAS1","GJA1","GJB2","GJB6","GNRH1","HOXC13","HR","ITGB4","JUP","KRAS","KRT74","KRT85","LMNA","LRP1","LSS","LTV1","MAP2K2","MBTPS2","NECTIN4","NR5A1","ODC1","PHGDH","PI4KA","PKP1","POLR1B","POLR1C","POLR1D","POLR3A","PPP2R3C","RECQL","RECQL4","RIPK4","RNU12","SF3B4","SMARCA2","SNRPE","SOX18","TBX3","TCOF1","TP63","TTC7A","TWIST2","UBE3B","UROS","ZBTB20","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BRITTLE_HAIR":{"collection":"C5:HPO","systematicName":"M35756","pmid":"","exactSource":"HP:0002299","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002299","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BRITTLE_HAIR","geneSymbols":["AARS1","ASL","ATAD3A","ATP6V0A2","ATP7A","BCS1L","BRAF","CARS1","CBS","CDH3","CDSN","DSG4","EDA","EDARADD","ERCC2","ERCC3","GJA1","GJB6","GNPTAB","GTF2E2","GTF2H5","GTPBP2","KRAS","KREMEN1","KRT25","KRT71","KRT74","KRT81","KRT83","KRT85","KRT86","LIPH","LPAR6","MAP2K1","MAP2K2","MPLKIP","NECTIN1","NFIX","OFD1","PORCN","PQBP1","PRR12","RNF113A","RPS23","SCUBE3","SEC23A","SKIC2","SKIC3","SLC25A24","SPINK5","ST14","TARS1","TCHH","TRNT1","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MUTISM":{"collection":"C5:HPO","systematicName":"M35757","pmid":"","exactSource":"HP:0002300","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002300","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MUTISM","geneSymbols":["ACTB","ACTG1","ADAMTS2","ADAMTSL2","AMER1","ASAH1","ATP1A3","CDKL5","CHCHD10","CHMP2B","CKAP2L","COL1A1","COL1A2","COX7B","CSF1R","EHMT1","FGFR1","FTL","FUS","GABBR2","GLE1","GRIN1","GRIN2A","GRN","HCCS","HNRNPA1","HNRNPA2B1","HTT","KRAS","MAPT","MECP2","NDUFA6","NDUFB11","NTNG1","PIK3C2A","PLEC","PRDM8","PRPS1","PSEN1","SETBP1","SLC19A3","SLC2A3","SLC9A6","SMARCA2","SMC1A","SQSTM1","TARDBP","TBK1","TBP","TCF4","TMEM106B","TRANK1","TREM2","UBE3C","VCP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HEMIPLEGIA":{"collection":"C5:HPO","systematicName":"M35758","pmid":"","exactSource":"HP:0002301","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002301","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEMIPLEGIA","geneSymbols":["ADA2","ADSL","ARX","ATP1A2","ATP1A3","CACNA1A","COL4A1","COL4A2","COQ2","CTC1","CTLA4","DOCK8","FGFR1","FUCA1","GALC","GNAQ","GNB1","HLA-DPA1","HLA-DPB1","IRAK1","KRAS","MT-CYB","NOTCH3","NPPA","PAH","PRF1","PRRT2","PRTN3","PTPN22","SAT1","SCN1A","SCN5A","SLC1A3","SMARCAL1","SNORD118","SPP1","STAT4","SUOX","TBC1D24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_AKINESIA":{"collection":"C5:HPO","systematicName":"M35759","pmid":"","exactSource":"HP:0002304","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002304","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AKINESIA","geneSymbols":["ATP13A2","CHRNA1","CHRND","CHRNG","CNTN1","CP","DCTN1","DNAJC13","DNAJC6","DOK7","DPAGT1","EIF4G1","ERBB3","FGF14","FLVCR2","FXR1","GBA1","GIGYF2","KARS1","KIF21A","LRRK2","MAPT","MUSK","MYOD1","NDUFA13","NEB","NR4A2","NUP88","PANK2","PODXL","RAPSN","SLC18A3","SNCA","SYNJ1","TMEM240","TOR1A","TUBA1A","VPS13C","VPS35","WDR45"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ATHETOSIS":{"collection":"C5:HPO","systematicName":"M35760","pmid":"","exactSource":"HP:0002305","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002305","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ATHETOSIS","geneSymbols":["ABCC8","ABHD16A","ACO2","ADAR","ADCY5","ALDH18A1","AP1S2","ARX","ATG7","ATM","ATN1","ATP1A2","ATP1A3","AUH","CACNA1A","CACNA1B","CACNA1D","CASK","CDKL5","CERS1","CHKA","CLPB","COX20","CUX2","CYB5A","CYB5R3","DCAF17","DDC","DLAT","DMXL2","DNM1L","DPYSL5","EIF2AK2","ELP2","EPRS1","ERCC2","ERCC6","FBXL4","FBXO28","FOXG1","FOXRED1","FRRS1L","FTL","GABRG2","GAMT","GCDH","GCH1","GJC2","GNAO1","GNAS","GON7","GRIK2","GRIN1","GRM7","GTPBP2","GUF1","HCFC1","HPRT1","HSD17B10","HSPD1","IREB2","IRF2BPL","KCNA1","KIF5A","MECP2","MECR","MED23","MICOS13","MICU1","MMUT","MRE11","MRPS34","MT-ATP6","NADK2","NDE1","NDUFA1","NDUFA13","NDUFA9","NDUFAF5","NEUROD2","NGLY1","NKX2-1","NUP54","NUP62","OPA3","PANK2","PC","PDE2A","PDGFB","PDGFRB","PDHA1","PEX2","PHGDH","PIGN","PIGP","PIGQ","PIGV","PIK3R5","PLP1","PNKD","PNKP","PNPT1","POLG","POLR3K","POU3F3","PRRT2","PTS","PYCR1","QDPR","RBM10","RNASET2","SCN1A","SCN1B","SCN2A","SCN8A","SEPSECS","SETX","SH2B1","SHQ1","SIK1","SLC13A5","SLC16A2","SLC17A5","SLC1A3","SLC20A2","SLC25A22","SLC25A42","SLC2A1","SLC30A9","SLC32A1","SLC46A1","SLC6A8","SMPD1","SPG21","SPR","SPTBN4","ST3GAL5","STXBP1","SUCLA2","SUCLG1","SUOX","SYT1","TIMM50","TMEM106B","TMEM151A","TNR","TOE1","TRAPPC11","TRIM8","TRPM3","TSEN15","TSEN2","TSEN34","TSEN54","TUBB4A","TWNK","UBA5","UBQLN2","UQCRQ","VPS13A","WARS2","XPA","XPR1","YME1L1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CHIARI_MALFORMATION":{"collection":"C5:HPO","systematicName":"M35761","pmid":"","exactSource":"HP:0002308","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002308","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHIARI_MALFORMATION","geneSymbols":["BAZ1B","BCL7B","BICRA","BUD23","CDC45","CHD4","CLIP2","CREBBP","CSF1R","CTSK","CWC27","DACT1","DHCR7","DHDDS","DKK1","DNAJC30","DNMT3A","DPF2","EIF4H","ELN","EP300","ERF","FANCI","FBN1","FGFR1","FGFR2","FGFR3","FKBP6","FLNA","FOXF1","FUZ","GNAQ","GTF2I","GTF2IRD1","GTF2IRD2","H3-3A","HES7","HMGA2","HRAS","IL11RA","KANSL1","KRAS","LEMD3","LIMK1","MAF","MAN2B1","MAP3K7","MBTPS2","METTL27","MKS1","MLXIPL","NCF1","NFIA","NFKB2","NONO","NOTCH2","NOTCH3","NOVA2","PAX2","PHEX","PIEZO2","PIK3CA","POLR3A","POLR3B","POR","PORCN","PPP1CB","PPP1R12A","PTCH1","PTH1R","RAD51","RECQL4","RFC2","RFWD3","RRAS2","SALL1","SC5D","SETBP1","SETD2","SF3B2","SH2B1","SIK3","SKI","SLC39A14","SMARCA2","SMO","SON","SPRED1","STAG1","STX1A","TAOK1","TBL1XR1","TBL2","TGFBR1","TGFBR2","TMEM270","TMEM94","TONSL","TRPM3","VANGL1","VPS37D","ZEB2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_OROFACIAL_DYSKINESIA":{"collection":"C5:HPO","systematicName":"M35762","pmid":"","exactSource":"HP:0002310","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002310","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OROFACIAL_DYSKINESIA","geneSymbols":["AARS1","ADCY5","ATXN7","CACNA2D1","CHMP2B","COQ2","CYP27A1","EXOSC5","FGF14","FTL","GBA2","GNAO1","IREB2","JAM2","LRPPRC","MICU1","MRE11","PANK2","PDE10A","PLP1","PNPT1","PRKRA","PRRT2","SLC18A2","SLC35A1","SLC6A3","VPS13A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INCOORDINATION":{"collection":"C5:HPO","systematicName":"M35763","pmid":"","exactSource":"HP:0002311","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002311","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCOORDINATION","geneSymbols":["AASS","ABCA2","ABCD1","ACOX1","ACTA1","ADAR","ADCY5","ADGRV1","ADSS1","AFF2","ALG13","ALG14","ALG2","ALMS1","APC2","ARG1","ARHGEF2","ARL6","ARSA","ASAH1","ATL1","ATP1A3","ATP2B3","ATP6AP2","ATP7B","ATP9A","ATXN10","ATXN3","ATXN8OS","B4GALNT1","BBS1","BSCL2","BSND","CACNA1A","CAPN3","CARS1","CAV3","CCDC28B","CCDC78","CDC42BPB","CFL2","CHAMP1","CHD8","CHP1","CLCNKA","CLCNKB","CLN5","CLN8","CLTC","COL12A1","COL6A1","COL6A2","COL6A3","COLQ","COQ2","COX20","CPLX1","CREBBP","CRPPA","CWF19L1","DAB1","DARS2","DCC","DEAF1","DNAJC13","DNAL4","DPAGT1","DYM","DYNC1H1","DYRK1A","EED","EEF1A2","EEF2","EIF4G1","ELN","ELP1","EP300","ERCC4","FA2H","FHL1","FIG4","FKRP","FKTN","FRRS1L","GABRA1","GABRD","GABRG2","GALC","GALT","GBA1","GCH1","GDAP1","GDAP2","GFPT1","GIGYF2","GJB1","GLRA1","GMPPB","GOSR2","GPHN","GRID2","GRIN2A","GRM1","HADHA","HADHB","HAX1","HCN1","HEPACAM","HEXB","HINT1","HLA-DQB1","HLA-DRB1","HNRNPA1","HSD17B10","HTT","HUWE1","ISCU","KBTBD13","KCNA1","KCNC3","KCND3","KDM4B","KIF1C","KLHL41","LAMB2","LMBRD1","LMNB2","LRRK2","LYST","LZTFL1","MAN2B1","MAPT","MECR","MED13L","MFN2","MICU1","MLXIPL","MORC2","MPZ","MRE11","MT-ATP6","MT-TE","MTFMT","MTHFR","MTPAP","MTR","MYPN","NAA20","NADK2","NDRG1","NDUFA1","NEB","NEFH","NEFL","NIPA1","NIPA2","NKX2-1","NOL3","NOP56","NR4A2","NSD1","NTN1","NUDT2","NUP54","NUP62","OPA1","PAK3","PANK2","PCDH19","PDCD1","PDE10A","PDE2A","PEX1","PEX16","PI4KA","PIK3R5","PLA2G6","PLEC","PMP2","PMP22","PMPCA","POGZ","POLG","POLG2","POLR3A","POLR3B","POMT1","PRNP","PSAP","PYROXD1","RAD51","RDH11","REEP1","RNF125","RNF168","RNU12","RORA","RPIA","RPL10","RRM2B","RYR3","SCN1A","SCN1B","SCN2A","SCN4A","SCN9A","SCO2","SCYL1","SDHA","SDHAF1","SDHB","SDHD","SET","SETD2","SGCA","SGCG","SH3TC2","SIM1","SLC12A6","SLC18A2","SLC19A3","SLC22A5","SLC25A1","SLC25A15","SLC25A4","SLC25A42","SLC2A3","SLC39A14","SLC52A2","SLC52A3","SLC6A8","SMG9","SNCA","SNRPN","SPG21","SPTBN2","SPTLC1","SQSTM1","STIM1","STX1B","SYNE1","SYNGAP1","TAF1","TANGO2","TBC1D23","TBC1D24","TCF20","TCF4","TGM6","TIA1","TPM2","TPM3","TPP1","TPR","TRANK1","TSHB","TTC19","TTN","TTPA","TUBG1","TWNK","TXN2","UBE3A","VCP","VPS13D","VPS35","VWA1","YWHAG"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CLUMSINESS":{"collection":"C5:HPO","systematicName":"M35764","pmid":"","exactSource":"HP:0002312","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002312","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CLUMSINESS","geneSymbols":["AASS","ACOX1","ACTA1","AFF2","ALG13","ARSA","ASAH1","ATP2B3","ATP7B","ATXN3","BSND","CAPN3","CAV3","CHD8","CLCNKA","CLCNKB","CLN5","CLN8","CLTC","CPLX1","CWF19L1","DARS2","DCC","DEAF1","DNAL4","FRRS1L","GALC","GALT","GJB1","GRIN2A","HAX1","HEPACAM","HNRNPA1","HTT","KBTBD13","KCNA1","KCNC3","KDM4B","KLHL41","MAN2B1","MAPT","MECR","MICU1","MORC2","MPZ","MYPN","NEB","NKX2-1","NR4A2","NTN1","PAK3","PANK2","PLA2G6","PMP22","POLR3A","PRNP","PSAP","RAD51","RNF125","RNF168","SCO2","SDHA","SLC22A5","SLC2A3","SLC39A14","SLC52A2","SLC52A3","SNRPN","SQSTM1","SYNE1","TBC1D24","TIA1","TPM2","TPM3","TPP1","TSHB","TTN","TTPA","TWNK","UBE3A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SPASTIC_PARAPARESIS":{"collection":"C5:HPO","systematicName":"M35765","pmid":"","exactSource":"HP:0002313","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002313","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPASTIC_PARAPARESIS","geneSymbols":["ABCD1","ADAR","AFG3L2","AIMP1","ALDH3A2","AP5Z1","ARG1","ATP6AP2","BCOR","BTD","CCDC88C","COASY","CPT1C","CYP27A1","EDNRB","FA2H","FAR1","GALC","GBA1","GFAP","GJA1","GJC2","GOT2","IDUA","IFIH1","LSM11","MAG","MED13L","MICOS13","MTHFR","MTPAP","MTRFR","OPA3","PEX16","PLP1","PNP","POLG","POLR3GL","PPP1R15B","PRUNE1","RNASEH2A","RNASEH2B","RNASEH2C","RNU7-1","SAMHD1","SDHA","SDHAF1","SDHB","SDHD","SELENOI","SLC25A15","SLC30A10","SOX10","SPART","SPG21","SPG7","TBCE","TREX1","TRMT10A","TTC19","TTR","WDR45"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DEGENERATION_OF_THE_LATERAL_CORTICOSPINAL_TRACTS":{"collection":"C5:HPO","systematicName":"M35766","pmid":"","exactSource":"HP:0002314","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002314","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEGENERATION_OF_THE_LATERAL_CORTICOSPINAL_TRACTS","geneSymbols":["ATL1","CHCHD10","CPT1C","DCTN1","FUS","KPNA3","NEFH","NIPA1","PLP1","PRPH","RTN2","SLC33A1","SOD1","SPAST","SPG11","SPG7","SQSTM1","TARDBP","TBK1","UBAP1","VCP","WASHC5"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HEADACHE":{"collection":"C5:HPO","systematicName":"M35767","pmid":"","exactSource":"HP:0002315","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002315","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEADACHE","geneSymbols":["ACP5","ACSF3","ACTA1","ACTN4","ACVRL1","ADA2","ADAMTS3","ADAMTSL1","ADAR","ADRA2B","AIP","AKT1","ALPK1","ALX4","AMACR","AMER1","ANKFY1","ANLN","AP2S1","APC","APOL1","APP","ARHGAP24","ARHGDIA","ASXL1","ATP1A2","ATP1A3","ATRX","BAP1","BCAT2","BMPR1A","BRAF","C4A","CACNA1A","CACNA1D","CASP10","CCM2","CCND1","CCR1","CD2AP","CD46","CDC73","CDH23","CDKN1A","CDKN1B","CDKN2B","CDKN2C","CFH","CFI","CLCN2","CLCNKB","CLTRN","CNNM2","CNTN2","COL1A1","COL3A1","COL4A1","COL4A3","COL5A1","COL5A2","COPB1","COQ8B","CORIN","CPT2","CRB2","CSNK1D","CTLA4","CTNNB1","CTNND2","CYB5R3","CYP11B1","CYP11B2","DAAM2","DEPDC5","DKK1","DLST","DNAI1","DNM1L","DNMT3A","EDNRA","ELANE","EMP2","ENG","EPAS1","EPCAM","EPHB4","EPM2A","EPOR","ERAP1","ERF","ESR1","F8","FAN1","FARSB","FAS","FASLG","FGFR2","FGFR3","FH","FLI1","FLT1","FRMD5","GABRG2","GAPVD1","GATA2","GBA1","GCDH","GDF2","GNB2","GP1BA","GP1BB","GP9","GPR101","GRIN2A","HACD1","HELLPAR","HLA-B","HLA-DPA1","HLA-DPB1","HLA-DRB1","HTR1A","HTRA1","IFIH1","IFNGR1","IL10","IL12A","IL12A-AS1","IL12B","IL23R","INF2","IRAK1","IRF3","ITGA7","JAG1","JAK2","KCNA1","KCNJ5","KCNK18","KCNQ2","KIF1B","KIF23","KIT","KL","KLRC4","KRAS","KRIT1","KYNU","LGI1","LIG3","LPIN2","LRP5","LSM11","MAGI2","MAOA","MAP3K20","MARCHF6","MAX","MDH2","MECR","MEFV","MEN1","MLH1","MLH3","MLX","MPL","MRPS2","MSH2","MSH6","MSX2","MT-ATP6","MT-CO1","MT-CO2","MT-CO3","MT-CYB","MT-ND1","MT-ND4","MT-ND5","MT-ND6","MT-TC","MT-TF","MT-TH","MT-TK","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TV","MT-TW","MTHFR","MVK","MYD88","MYL2","MYO1E","MYORG","NAGS","NDP","NF1","NF2","NFE2L2","NFIX","NHLRC1","NLRP12","NLRP3","NOP56","NOTCH2","NOTCH3","NPHS1","NPHS2","NPPA","NR3C1","NUP107","NUP133","NUP160","NUP205","NUP37","NUP85","NUP93","OPA1","P4HA2","PAX2","PDCD10","PDGFB","PDGFRB","PEX11B","PGK1","PIGA","PIGT","PIK3CA","PLCE1","PMS1","PMS2","POLG","POLG2","PRKCD","PRORP","PRRT2","PRTN3","PTEN","PTPN22","PTPRO","RACGAP1","RASA1","RASGRP1","RELA","RELN","RET","RNASEH1","RNASEH2A","RNASEH2B","RNASEH2C","RNF168","RNU7-1","RPS20","RRM2B","RYR1","SAMD12","SAMHD1","SAT1","SCN1A","SCN2A","SCN5A","SDHA","SDHAF2","SDHB","SDHC","SDHD","SELENON","SEMA4A","SH2B1","SH2B3","SLC12A3","SLC19A2","SLC1A3","SLC25A11","SLC25A4","SLC2A1","SLC39A14","SLC6A19","SMAD3","SMAD4","SMARCAL1","SMARCB1","SMARCE1","SMO","SOST","SPOP","SPP1","SQOR","SRPX2","SRSF2","STARD7","STAT4","STIM1","STOX1","SUFU","TBC1D8B","TBK1","TERT","TET2","TGFB1","TGFBR2","THPO","TICAM1","TLR3","TLR4","TLR7","TMEM127","TNF","TNFRSF11A","TNFRSF1A","TP53","TPM2","TPM3","TRAF3","TRAF7","TRANK1","TREX1","TRPC6","TTR","TWIST1","TWNK","UBAC2","UNC93B1","USP48","USP8","VANGL1","VHL","VSX1","WT1","YEATS2","ZFHX2","ZFTA"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_UNSTEADY_GAIT":{"collection":"C5:HPO","systematicName":"M35768","pmid":"","exactSource":"HP:0002317","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002317","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UNSTEADY_GAIT","geneSymbols":["AARS1","ACTL6B","ADSS1","AIFM1","ALDH4A1","AP2M1","AP3B2","ARV1","ATP1A2","ATP1A3","ATP2B3","ATP6AP2","ATP6V1A","ATP7A","ATXN10","ATXN2","ATXN8OS","BCL11B","BSCL2","CACNA1A","CACNA1B","CACNA1G","CACNA2D1","CAMK2A","CAMTA1","CCDC88C","CDK19","CELF2","CEP104","CHD2","CHD3","CIZ1","CLCN4","CLN5","CLN8","CLTC","CNKSR2","CRAT","CREBBP","CWF19L1","CYFIP2","CYP2U1","DAB1","DAG1","DALRD3","DARS2","DCC","DDHD1","DEAF1","DHDDS","DHPS","DHX16","DNM1","DOCK3","DPM3","EEF1A2","EIF2B1","EIF2B2","EIF2B4","EP300","ERCC6","ERCC8","EXT2","FBXO28","FGD4","FGF12","FGF13","FZR1","GABBR2","GABRA2","GABRA5","GABRB2","GABRG2","GAN","GARS1","GDAP1","GJB1","GLRX5","GRIN2D","HACE1","HCN1","HERC2","HPDL","HTT","KCNA2","KCNB1","KCNQ5","KDM5B","KIF1A","KIF1C","KPNA3","LCA5","LRAT","MAPK8IP3","MAPT","MAST1","MATR3","MCM3AP","MGAT2","MME","MPZ","MRE11","MTFMT","NAT8L","NDRG1","NDUFA1","NECAP1","NEFL","NEXMIF","NF2","NTRK2","NUDT2","NUS1","OGDH","OPA1","OPA3","P4HTM","PACS1","PACS2","PAK1","PARS2","PCNA","PDE10A","PDHX","PEX1","PEX10","PEX16","PEX2","PITRM1","PLA2G6","PMP22","PMPCA","PNPO","POU4F1","PPP2R2B","PPP2R5D","PPP3CA","PRKRA","PRNP","QRICH1","REEP1","RNASEH1","RNF170","RPE65","RUBCN","RUSC2","SACS","SAMD9L","SCARB2","SCN1A","SCN3A","SCN8A","SDHA","SGCA","SHANK3","SLC13A5","SLC1A2","SLC2A1","SLC38A3","SLC6A1","SLITRK2","SMS","SPATA7","SPTBN2","STAG2","STUB1","SUCLG1","SYNGAP1","SYNJ1","SYT14","SZT2","TPI1","TPP1","TRAK1","TRPC3","UBA5","VAC14","VPS13D","VPS41","VWA3B","WARS1","WLS","WWOX","XRCC1","XYLT2","YWHAG","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CERVICAL_MYELOPATHY":{"collection":"C5:HPO","systematicName":"M35769","pmid":"","exactSource":"HP:0002318","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002318","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CERVICAL_MYELOPATHY","geneSymbols":["ARSB","COL2A1","EXT1","EXT2","GALNS","GLB1","NAXE","NMNAT1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_VERTIGO":{"collection":"C5:HPO","systematicName":"M35770","pmid":"","exactSource":"HP:0002321","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002321","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VERTIGO","geneSymbols":["ABCC9","ADA2","AIFM1","AIP","ATP1A2","BCOR","BRAF","C4A","CACNA1A","CACNA1G","CACNB4","CALM1","CALM2","CALM3","CASQ2","CCND1","CCR1","CDH23","CLCNKB","CNNM2","COCH","COL3A1","CTNNB1","DBH","DKK1","DLST","DNMT3A","EPAS1","EPOR","ERAP1","FAS","FGF14","FH","FIP1L1","FLI1","FOXI1","GATA2","GATA4","GATA5","GATA6","GCDH","GCGR","GJA5","GLA","GYG1","HLA-B","HLA-DRB1","IFNGR1","IL10","IL12A","IL12A-AS1","IL23R","IRF2BP2","JAK2","JUP","KCNA1","KCNA5","KCNE1","KCNE2","KCNJ10","KCNJ2","KCNJ3","KCNJ5","KCNQ1","KCNQ2","KIF1B","KLRC4","LRP4","MAX","MDH2","MED12","MEFV","MEN1","MPL","MVK","MYD88","MYL2","MYL4","MYO7A","NABP1","NAGA","NF1","NF2","NKX2-5","NKX2-6","NOP56","NPM1","NPPA","NUMA1","NUP155","P4HA2","PDGFB","PITX2","PML","PRKAR1A","PRRT2","PTPN22","RARA","RET","RYR1","RYR2","SCN1A","SCN1B","SCN2A","SCN2B","SCN3B","SCN4B","SCN5A","SDHA","SDHAF2","SDHB","SDHC","SDHD","SH2B3","SLC12A3","SLC1A3","SLC25A11","SLC26A4","STAT3","STAT4","STAT5B","SUFU","TBL1XR1","TECRL","TET2","THPO","TLR4","TMEM127","TNFRSF1A","TPK1","TRDN","TRPM4","TTN","UBAC2","VHL","VSX1","ZBTB16"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RESTING_TREMOR":{"collection":"C5:HPO","systematicName":"M35771","pmid":"","exactSource":"HP:0002322","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002322","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RESTING_TREMOR","geneSymbols":["ADCY5","ADH1C","ALDH18A1","ATP13A2","ATP1A3","ATP6AP2","ATXN2","ATXN8OS","CACNA1G","CDKL5","CHCHD2","COQ2","CYP27A1","DNAJC13","DNAJC6","DNMT1","EIF4G1","FMR1","FTL","GABBR2","GBA1","GCH1","GIGYF2","GLUD2","KCNN2","LRRK2","MAN1B1","MAPT","MECP2","MICU1","MT-TT","NR4A2","NTNG1","OPA3","PARK7","PINK1","PLA2G6","PODXL","POLG","POLG2","PSAP","RAB39B","RRM2B","SLC25A4","SMC1A","SNCA","SNCAIP","SYNJ1","TAF1","TBP","TTC19","TWNK","UQCRC1","VPS13A","VPS13C","VPS35"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ANENCEPHALY":{"collection":"C5:HPO","systematicName":"M35772","pmid":"","exactSource":"HP:0002323","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002323","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANENCEPHALY","geneSymbols":["B4GAT1","B9D1","B9D2","CC2D2A","CCL2","CEP290","CEP55","CSPP1","DACT1","FLVCR2","FUZ","GPKOW","HOXD13","HYLS1","KIAA0586","KIF7","MKS1","NDE1","NUAK2","PHGDH","RPGRIP1","RPGRIP1L","SNRPB","TBX15","TBXT","TCTN1","TCTN2","TCTN3","TMEM107","TMEM216","TMEM231","TMEM237","TMEM67","TRIM36","TXNDC15","VANGL1","VANGL2","WDR81"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYDRANENCEPHALY":{"collection":"C5:HPO","systematicName":"M35773","pmid":"","exactSource":"HP:0002324","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002324","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYDRANENCEPHALY","geneSymbols":["CEP55","FLVCR2","GPKOW","NDE1","PHGDH","SNRPB","TBX15","WDR81"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_TRANSIENT_ISCHEMIC_ATTACK":{"collection":"C5:HPO","systematicName":"M35774","pmid":"","exactSource":"HP:0002326","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002326","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TRANSIENT_ISCHEMIC_ATTACK","geneSymbols":["ABCC6","ACTA2","ACTB","ACTC1","ACTG1","ACVRL1","ADAMTS13","ANGPTL6","CALR","CITED2","COL3A1","ELN","ENG","ENPP1","FBN1","FOXE3","GATA4","GATA6","GDF2","GLA","HEY2","HTRA1","JAK2","KRAS","LMNA","LOX","MAT2A","MFAP5","MPL","MYBPC3","MYH11","MYH6","MYLK","NKX2-5","NOTCH3","PRKG1","RNF213","SH2B3","SMAD2","SMAD3","SMAD4","SMARCAL1","SON","TBX20","TET2","TGFB2","TGFB3","TGFBR1","TGFBR2","TGFBR3","THPO","THSD1","THSD4","TLL1","TP53","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DROWSINESS":{"collection":"C5:HPO","systematicName":"M35775","pmid":"","exactSource":"HP:0002329","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002329","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DROWSINESS","geneSymbols":["ABCC8","AGRN","AK9","ATP1A2","CACNA1A","CHRNA1","CHRNB1","CHRND","CHRNE","COL13A1","DOK7","FBP1","GFAP","HCRT","HNF1A","HNF4A","KCNJ11","KIF1A","LONP1","LRP4","MAN2B1","MT-CYB","MTRR","MUSK","NAGS","NDUFS8","PDHA1","PIGG","PTS","RAPSN","SCN4A","SLC13A3","SLC19A3","SLC25A13","SPR","THRA","UCP2","ZNHIT3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RECURRENT_PAROXYSMAL_HEADACHE":{"collection":"C5:HPO","systematicName":"M35776","pmid":"","exactSource":"HP:0002331","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002331","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_PAROXYSMAL_HEADACHE","geneSymbols":["DKK1","DLST","DNMT3A","EPAS1","FH","KIF1B","MAX","MDH2","MT-CO1","MT-CO2","MT-CO3","MT-ND1","MT-ND4","MT-ND5","MT-ND6","MT-TF","MT-TH","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TW","NF1","RET","SDHA","SDHAF2","SDHB","SDHC","SDHD","SLC25A11","TMEM127","VHL"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MOTOR_DETERIORATION":{"collection":"C5:HPO","systematicName":"M35777","pmid":"","exactSource":"HP:0002333","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002333","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MOTOR_DETERIORATION","geneSymbols":["CLN5","CLN6","CLN8","FRRS1L","GALC","GRIN2A","HGSNAT","MECP2","NOTCH3","PAH","PLEKHG4","PRKAR1B","PSAP","RBM28","SDHA","SDHAF1","SDHB","SDHD","TK2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CEREBELLAR_VERMIS_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M35778","pmid":"","exactSource":"HP:0002334","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002334","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CEREBELLAR_VERMIS_MORPHOLOGY","geneSymbols":["ACY1","ADGRG1","ADPRS","AFF3","AHI1","AIPL1","ALG3","ALX4","AP1S2","APC2","ARF1","ARHGEF2","ARID1A","ARID1B","ARID2","ARL13B","ARL3","ARMC9","ASNS","ASXL1","ASXL3","ATN1","ATP2B3","ATP6V0A2","ATP6V1A","ATP6V1B2","ATP6V1E1","ATP9A","ATR","ATXN1","ATXN8OS","B3GALNT2","B4GALT1","B4GAT1","B9D1","B9D2","BCL11A","BCOR","BICD2","BLTP1","BMP4","BRF1","BUB1","BUB1B","BUB3","C2CD3","CACNA1A","CACNA1G","CACNA2D2","CBY1","CC2D2A","CCDC22","CCDC32","CDC42","CDC42BPB","CDKN1C","CENPF","CEP104","CEP120","CEP164","CEP290","CEP41","CEP57","CHD7","CHP1","CNTNAP2","COG1","COL4A1","COX20","CPLANE1","CPSF3","CPT2","CRB1","CRPPA","CRX","CSF1R","CSPP1","CUL4B","CWF19L1","DAB1","DAG1","DCHS1","DDX3X","DENND5A","DHCR7","DLG4","DOK7","DPF2","DPH1","DPH2","DPH5","DPYSL5","DYNC1H1","DYNC2H1","DYNC2I1","DYNC2I2","EBF3","EBP","ELOVL5","EPG5","ESCO2","EVC","EVC2","EXOC2","EXOSC8","FA2H","FAM149B1","FAR1","FAT4","FDXR","FGFR1","FIG4","FKRP","FKTN","FLVCR2","FOXC1","FRMD4A","FTO","GDF6","GEMIN4","GJB1","GJB2","GJB6","GLI3","GMPPB","GOT2","GPC3","GPC4","GRIA3","GRID2","GRM1","GTPBP2","GUCY2D","H3-3A","HHAT","HNRNPH1","HNRNPR","HRAS","HTT","HYLS1","IFT140","IFT172","IFT74","IFT80","IGF2","IMPDH1","INPP5E","INPP5K","INTS1","IQCB1","ITPR1","KATNIP","KCNJ13","KCNQ1","KCNQ1OT1","KIAA0586","KIAA0753","KIF14","KIF1A","KIF21A","KIF5A","KIF7","KNL1","KPNA3","KRAS","L1CAM","LAMA1","LAMB1","LARGE1","LCA5","LETM1","LMX1B","LNPK","LRAT","LRPPRC","LRRC32","MAB21L1","MACF1","MAN2C1","MAPKAPK5","MARS2","MAST1","MBD5","MDH1","MED11","MEF2C","MID1","MKS1","MME","MPL","MRE11","MTM1","MUSK","MVK","MYO5A","MYOD1","NCAPG2","NEK1","NMNAT1","NOP56","NPHP1","NPHP3","NPTX1","NRAS","NSD1","NSRP1","NUP37","NUP88","ODC1","OFD1","OPA1","OPHN1","PACS1","PACS2","PAFAH1B1","PCGF2","PCYT1A","PDE6D","PEX16","PEX2","PGAP1","PGAP2","PHGDH","PI4KA","PIBF1","PIEZO2","PIGN","PIGS","PIGU","PIK3R5","PLCH1","PLG","PLP1","PMM2","PMPCA","POLR3A","POLR3B","POMGNT1","POMGNT2","POMK","POMT1","POMT2","PPFIBP1","PPP1CB","PPP1R21","PRDM13","PRKCG","PRKDC","PSAT1","PTEN","PTF1A","PUM1","QARS1","RAB11B","RAB18","RAB3GAP1","RAB3GAP2","RAC1","RAPSN","RARS2","RBM10","RBM8A","RD3","RDH12","RERE","RFC1","RFX7","RNF113A","RNU12","RNU4ATAC","ROBO1","RPE65","RPGRIP1","RPGRIP1L","RXYLT1","SACS","SASS6","SCYL1","SEMA3E","SEMA6B","SEPSECS","SETD2","SETX","SIL1","SLC18A3","SLC25A19","SLC25A24","SLC35A2","SLC39A8","SLC9A1","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SMG9","SOX11","SOX4","SPATA7","SRD5A3","SRPX2","STXBP1","SUFU","SYT14","SYT2","TAF1","TBC1D20","TBC1D24","TBCK","TCTN1","TCTN2","TCTN3","TDP1","TFAP2A","THG1L","THOC2","TMCO1","TMEM107","TMEM138","TMEM216","TMEM218","TMEM231","TMEM237","TMEM240","TMEM67","TOGARAM1","TOPORS","TRAPPC9","TRIP13","TRPC3","TRRAP","TSEN15","TSEN2","TSEN34","TSEN54","TUBA1A","TUBB","TUBB2A","TUBB2B","TUBB3","TUBB4B","TULP1","TXNDC15","USP45","USP9X","VLDLR","VPS35L","VPS41","VPS4A","VPS51","WARS2","WASHC5","WDR35","WDR4","WDR73","WDR81","WLS","XRCC4","ZEB2","ZIC1","ZNF423"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_AGENESIS_OF_CEREBELLAR_VERMIS":{"collection":"C5:HPO","systematicName":"M35779","pmid":"","exactSource":"HP:0002335","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002335","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AGENESIS_OF_CEREBELLAR_VERMIS","geneSymbols":["ALX4","B4GAT1","CEP290","FKRP","INPP5E","KIF14","KPNA3","MEF2C","MVK","PDE6D","PTF1A","RNU4ATAC","TCTN3","TFAP2A","TMEM216","TMEM237","ZEB2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CAUDATE_NUCLEUS_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M35780","pmid":"","exactSource":"HP:0002339","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002339","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CAUDATE_NUCLEUS_MORPHOLOGY","geneSymbols":["ADAR","ASNS","ATP13A2","BSCL2","COASY","DCX","FOXP2","FTL","GCDH","HTT","JPH3","MT-ATP6","NDUFAF5","NEK1","NUP54","NUP62","OPHN1","SLC2A3","TIMM8A","TREM2","TUBB2B","TUBB3","TYROBP","VPS13A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CAUDATE_ATROPHY":{"collection":"C5:HPO","systematicName":"M35781","pmid":"","exactSource":"HP:0002340","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002340","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CAUDATE_ATROPHY","geneSymbols":["ASNS","BSCL2","FOXP2","FTL","HTT","JPH3","NDUFAF5","NEK1","OPHN1","SLC2A3","TIMM8A","TREM2","TYROBP","VPS13A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CERVICAL_CORD_COMPRESSION":{"collection":"C5:HPO","systematicName":"M35782","pmid":"","exactSource":"HP:0002341","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002341","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CERVICAL_CORD_COMPRESSION","geneSymbols":["ARSL","COMP","CREBBP","EP300","EXTL3","IDS","IDUA","NFIX","RMRP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INTELLECTUAL_DISABILITY_MODERATE":{"collection":"C5:HPO","systematicName":"M35783","pmid":"","exactSource":"HP:0002342","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002342","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTELLECTUAL_DISABILITY_MODERATE","geneSymbols":["ADCY5","AGO1","AKT1","ALDH18A1","ALX4","ANK3","ANKRD11","AP1S2","APC","APC2","ARID1A","ARID1B","ARID2","ARX","ASXL3","CACNG2","CAMKMT","CASK","CC2D2A","CCNK","CDH11","CDK5RAP2","CENPJ","CHRNA7","CLCN4","CNTNAP2","COG1","COG5","COL1A2","COQ4","COQ8A","CPLX1","CUL4B","CWC27","CWF19L1","DCHS1","DMXL2","DNMT3A","DPAGT1","DPF2","EBP","EGF","ENTPD1","EXT2","FAT4","FBLN1","FGFR2","FGFR3","FMR1","FOXP1","FTSJ1","FZR1","GLUD1","GRIA3","GRIN1","GRIN2A","GTF2E2","HMGCL","HNRNPK","HPRT1","HYCC1","IL1RAPL1","INPP5E","KANSL1","KDM5B","KIF5A","KLF13","L1CAM","LAMA1","MAB21L2","MAGEL2","MAN1B1","MECP2","MED12","MED13L","MED25","MT-TE","NCAPD2","NCAPH","NDN","NDUFAF1","NDUFAF5","NFIX","NHS","NSD1","NSUN2","OCA2","OPHN1","PAX1","PCDH19","PDE2A","PGAP1","PGAP2","PGAP3","PGM3","PIGL","PIGO","PIGV","PIGW","PIGY","PLP1","POLR3A","POLR3B","PPM1B","PPP2R5D","PREPL","PRMT7","PRPS1","PSPH","PTDSS1","PTRH2","PUF60","RBMX","RDH11","RNU4ATAC","RPGRIP1L","RSPRY1","RTTN","SARS1","SATB2","SCN1A","SETBP1","SETD2","SHANK3","SHMT2","SLC16A2","SLC35A3","SLC3A1","SLC45A1","SLC9A7","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SMOC1","SNRPN","SOX11","SOX4","SPATA5","SRCAP","STAG2","SYNGAP1","TAF1","TBC1D24","TBCD","TCF4","TDO2","TGM6","THOC2","TMEM67","TMEM70","TOR1A","TTI2","TWIST1","UBE2A","UROC1","USP9X","VPS16","WARS2","WDFY3","WDR62","XYLT1","YY1","ZBTB11","ZNF711"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NORMAL_PRESSURE_HYDROCEPHALUS":{"collection":"C5:HPO","systematicName":"M47059","pmid":"","exactSource":"HP:0002343","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002343","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NORMAL_PRESSURE_HYDROCEPHALUS","geneSymbols":["CFAP43","ERCC6","ERCC8","SCN4A","TUBB3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PROGRESSIVE_NEUROLOGIC_DETERIORATION":{"collection":"C5:HPO","systematicName":"M35784","pmid":"","exactSource":"HP:0002344","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002344","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROGRESSIVE_NEUROLOGIC_DETERIORATION","geneSymbols":["ALDH18A1","ARSA","ATP1A2","ATP1A3","BSCL2","CACNA1A","CERS1","CNTNAP2","CTNS","CYC1","CYP27A1","EIF2B5","EPM2A","ERCC6","ERCC8","GALC","GBA1","GCH1","GLB1","GRN","HEPACAM","HEXB","HIBCH","HNF4A","HSD17B10","IDUA","ITM2B","KARS1","KCTD7","LMNB1","LRPPRC","MCOLN1","MICOS13","MTFMT","NAGLU","NDUFA6","NHLRC1","PDGFRB","PMPCA","POLG","PSAP","PTS","QDPR","RAB27A","RNU4ATAC","RRM2B","SDHA","SDHAF1","SDHB","SDHD","SLC13A3","SLC1A3","SLC39A14","SUMF1","SYNJ1","TIMMDC1","TINF2","TREX1","VCP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ACTION_TREMOR":{"collection":"C5:HPO","systematicName":"M35785","pmid":"","exactSource":"HP:0002345","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002345","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACTION_TREMOR","geneSymbols":["AARS1","ABCB7","ABHD12","ACBD5","ADPRS","AFG3L2","AKT1","ALDH18A1","ALS2","AMACR","ANO10","ANO3","ARSA","ATCAY","ATM","ATN1","ATP13A2","ATP2B3","ATP6AP2","ATXN1","ATXN10","ATXN2","BRAT1","BSCL2","CACNA1A","CACNA1C","CACNA1G","CAMTA1","CARS1","CARS2","CCDC88C","CLCN2","COL6A3","COQ2","CSTB","CTDP1","CWF19L1","CYP7B1","DNAJC19","DNAJC30","DRD3","EIF2AK2","ELOVL4","EPRS1","ERCC2","ERCC3","ERCC6","ERCC8","FARS2","FBXO7","FGF14","FLVCR1","FMR1","FUS","FXN","GABRA1","GABRG2","GALT","GCH1","GGT1","GJB1","GJC2","GRIK2","GSS","GTF2E2","GTF2H5","HIBCH","HSD17B4","HSPD1","HYCC1","IFRD1","IMPDH2","ITM2B","ITPR1","JPH3","KARS1","KCNC3","KCND3","KCNJ10","KCNK4","KCNN2","KIF1C","KNSTRN","LAMA1","LEMD2","LMAN2L","LMNB1","MAG","MAOA","MFN2","MPLKIP","MPZ","MRE11","MT-ATP6","MT-CO1","MT-CO3","MT-CYB","MT-ND1","MT-ND2","MT-ND4","MT-ND4L","MT-ND5","MT-ND6","MYBPC1","NDRG1","NDUFS2","NFASC","NGLY1","NIPA1","NKX2-1","NKX6-2","NOL3","NONO","NOP56","NOTCH2NLC","NPTX1","NR4A2","OPA3","OPHN1","PARK7","PCDH19","PDGFB","PEX10","PI4KA","PIGA","PIK3CA","PIK3CD","PIK3R5","PITRM1","PLA2G6","PLP1","PMM2","PMP22","PNPLA6","POLG","POLR3A","POLR3B","POU4F1","PPP1R15B","PPP2R2B","PRDX3","PRICKLE1","PRKRA","PSAP","PTEN","QRICH1","RARS1","REEP2","RFC1","RILPL1","RNF113A","RNU12","SACS","SCARB2","SCN1A","SCN1B","SCN2A","SCN9A","SCP2","SCYL1","SEMA6B","SETX","SIGMAR1","SLC19A3","SLC25A46","SLC30A10","SLC9A1","SMG9","SNCA","SPG11","SPTBN1","SPTBN2","SPTLC1","STUB1","TARS1","TBP","TECR","TENM4","TGM6","TH","THG1L","TK2","TMCO1","TMEM106B","TMEM240","TMEM63A","TMEM70","TPK1","TPP1","TPR","TSPOAP1","TTR","TUBB4A","UCHL1","UFC1","UROC1","VAPB","VLDLR","VPS13A","VWA3B","WARS2","WDR81","XPNPEP3","YWHAG"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HEAD_TREMOR":{"collection":"C5:HPO","systematicName":"M35786","pmid":"","exactSource":"HP:0002346","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002346","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEAD_TREMOR","geneSymbols":["AARS1","AFG3L2","ALS2","ANO3","CACNA1G","CEP104","CIZ1","DNMT1","EIF2AK2","FUS","GBA2","GJC2","HIBCH","HSPD1","IFRD1","ITPR1","KARS1","KCNN2","KIF1C","LAMA1","LMNB1","NEFL","NKX6-2","NOP56","NOTCH2NLC","NPTX1","PEX6","PI4KA","PIK3R5","PLP1","PPP2R2B","RNU12","SCP2","SETX","SH3TC2","SIGMAR1","SPG11","SPTBN1","SPTLC1","STUB1","TMEM63A","TRIM8","UCHL1","VPS13A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FOCAL_AWARE_SEIZURE":{"collection":"C5:HPO","systematicName":"M35787","pmid":"","exactSource":"HP:0002349","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002349","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOCAL_AWARE_SEIZURE","geneSymbols":["ALDH7A1","CNTNAP2","CPA6","DEPDC5","FRRS1L","GABRA1","GABRG2","GAL","GJC2","GRIN2A","LGI1","MICAL1","NPRL2","NPRL3","PCDH19","PLPBP","RELN","SCN1A","SCN1B","SCN2A","SCN9A","SUPT16H","TBK1","TICAM1","TLR3","TRAF3","UNC93B1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CEREBELLAR_CYST":{"collection":"C5:HPO","systematicName":"M35788","pmid":"","exactSource":"HP:0002350","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002350","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CEREBELLAR_CYST","geneSymbols":["AFF3","AGTPBP1","AHDC1","ALG3","AP1S2","ARID1A","ARID1B","ARID2","ARMC9","ASXL1","ATP6V0A2","ATP6V1A","ATP6V1B2","ATP6V1E1","B3GALNT2","B4GALT1","B4GAT1","B9D1","B9D2","BCOR","BLTP1","BUB1","BUB1B","BUB3","C2CD3","CC2D2A","CCDC22","CDC42","CDKN1C","CEP120","CEP290","CEP57","CHD7","COL3A1","COL4A1","CPT2","CRPPA","CSF1R","CSPP1","DAG1","DDX3X","DENND5A","DHCR7","DOCK6","DOK7","DPF2","DPH1","DPH2","DPYSL5","DYNC2H1","DYNC2I1","DYNC2I2","EBP","ESCO2","EVC","EVC2","EXOSC3","EXOSC8","EXOSC9","FAR1","FGFR1","FKRP","FKTN","FLVCR2","FTO","GJB2","GJB6","GLI3","GMPPB","GPC3","GPC4","GRIA3","GRM1","GTPBP2","HRAS","HYLS1","IFT80","IGF2","KCNQ1","KCNQ1OT1","KIAA0586","KIF21A","KIF5A","KIF7","KRAS","LAMA1","LARGE1","LONP1","MAB21L1","MID1","MKS1","MTM1","MUSK","MYOD1","NPHP3","NRAS","NUP88","OFD1","OPHN1","PDGFRB","PDHA1","PGAP2","PHGDH","PIEZO2","PIGN","PLCH1","PLG","PMM2","POLR3A","POMGNT1","POMGNT2","POMK","POMT1","POMT2","PPP1CB","RAPSN","RNF113A","RPGRIP1","RPGRIP1L","RXYLT1","SEMA3E","SEPSECS","SLC18A3","SLC25A46","SLC35A2","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SMG9","SNX14","SOX11","SOX4","TBC1D24","TCTN1","TCTN2","TCTN3","TMEM107","TMEM138","TMEM216","TMEM231","TMEM237","TMEM67","TMTC3","TRIP13","TSEN15","TSEN2","TSEN34","TSEN54","TUBA1A","TUBB","TXNDC15","USP9X","VPS35L","VPS51","VRK1","WASHC5","WDR35","WDR73","WDR81","ZIC1","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LEUKOENCEPHALOPATHY":{"collection":"C5:HPO","systematicName":"M35789","pmid":"","exactSource":"HP:0002352","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002352","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LEUKOENCEPHALOPATHY","geneSymbols":["AARS1","AARS2","ABCC9","ABCD1","ABHD16A","ACP5","ACTA2","ACTL6B","AIFM1","ALDH18A1","ALG8","AMPD2","AP4B1","AP4E1","AP4M1","AP4S1","AP5Z1","ARHGAP31","ARID2","ARSA","ATP13A2","AUH","B3GALNT2","BRF1","CA2","CARS1","CDC42","CDK13","CLCN2","CLCN4","CLN5","CLN6","CLPB","CNBP","CNKSR2","CNP","CNTNAP2","COA7","COA8","COL4A1","COLGALT1","CPLX1","CSF1R","CTBP1","CTC1","CYP27A1","DARS1","DARS2","DDHD2","DEGS1","DLL4","DNM1L","DOCK6","DPM2","DPM3","EARS2","EDEM3","EIF2B1","EIF2B2","EIF2B3","EIF2B4","EOGT","ERCC2","ERCC3","FA2H","FARSA","FCSK","FGFRL1","FKRP","FOXRED1","GALC","GFAP","GM2A","GMPPB","GNB2","GTF2E2","GTF2H5","HEPACAM","HIBCH","HIKESHI","HK1","HMGCL","HTRA1","ISCA2","KARS1","KCNN2","KIF5A","L2HGDH","LAMA1","LAMB1","LARGE1","LETM1","LIG3","LIPT2","LMNB1","LMX1B","LONP1","LYRM7","MARS2","MEF2C","MLC1","MMACHC","MORC2","MPLKIP","MPV17","MRPS22","MT-ND1","MT-ND2","MT-ND3","MT-TN","MT-TS1","MTHFR","NAXE","NDUFA1","NDUFA11","NDUFA6","NDUFAF1","NDUFAF2","NDUFAF3","NDUFAF4","NDUFAF5","NDUFAF8","NDUFB10","NDUFB11","NDUFB3","NDUFB9","NDUFC2","NDUFS1","NDUFS2","NDUFS3","NDUFS4","NDUFS6","NDUFS7","NDUFS8","NDUFV1","NDUFV2","NEUROD2","NFE2L2","NFU1","NMNAT1","NOTCH1","NOTCH2NLC","NOTCH3","NRCAM","NRROS","NSD2","NUBPL","OCRL","ODC1","OGDHL","OPA1","PAK1","PC","PDHA1","PDHB","PDHX","PLAA","PMPCB","POLG","POMT1","POMT2","POT1","PPFIBP1","PRNP","PRORP","PRR12","PSAP","PUF60","RAB3GAP2","RAC1","RBPJ","RFWD3","RNASET2","RNF113A","RNU7-1","RPIA","RPL10","RRM2B","RTTN","SAMHD1","SCN4A","SCP2","SDHA","SDHAF1","SELENOI","SEPSECS","SHANK3","SNORD118","SON","SPATA5L1","SPG11","SPG21","SSR4","STRADA","STXBP1","SUCLG1","SUGCT","SUMF1","SURF1","TARS1","TBCK","TET3","TIMMDC1","TMEM126B","TMEM222","TMEM70","TPRKB","TREM2","TREX1","TRMT1","TRPM3","TSEN54","TTC5","TYMP","TYROBP","UBA1","UQCC3","USP7","VPS11","WARS1","WARS2","YME1L1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MEMORY_IMPAIRMENT":{"collection":"C5:HPO","systematicName":"M35790","pmid":"","exactSource":"HP:0002354","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002354","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MEMORY_IMPAIRMENT","geneSymbols":["ABCA7","ABCD1","ACSF3","ADA2","AFG3L2","AKT1","ALDH18A1","AMACR","APOE","APP","ARMC5","ARSA","ATN1","ATRX","ATXN1","ATXN3","BAP1","BMPR1A","BRAF","C4A","CAMTA1","CCR1","CDH23","CHMP2B","CLN3","CP","CSF1R","CTSH","CYLD","DNMT1","ECM1","EIF2B1","EIF2B2","EPCAM","ERAP1","FAN1","FAR1","FAS","FGF14","FMR1","GNAS","GNE","GOSR2","GRIN2A","GRN","GSN","HCRT","HLA-B","HLA-DQB1","HLA-DRB1","HMBS","HTT","IFNGR1","IL10","IL12A","IL12A-AS1","IL23R","JPH3","KLRC4","KRAS","MAPT","MEFV","MEN1","MLH1","MLH3","MMACHC","MOG","MSH2","MSH6","MT-CO1","MT-CO2","MT-CO3","MT-ND1","MT-ND4","MT-ND5","MT-ND6","MT-TF","MT-TH","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TW","MYD88","MYORG","NF1","NF2","NIPA1","NIPA2","NOTCH3","NPTX1","NR3C1","P2RY11","PAH","PDGFB","PDGFRB","PIDD1","PIK3CA","PMS1","PMS2","POLG","POU4F1","PRKAR1B","PRKCG","PRNP","PRORP","PSAP","PSEN1","PSEN2","REEP2","RNASEH1","RPS20","RRM2B","SEMA4A","SIM1","SLC20A2","SLC25A13","SLC2A3","SMARCB1","SMARCE1","SMO","SORL1","SPAST","SPG11","SPG7","SQSTM1","STAT4","STUB1","SUFU","TERT","TGFBR2","TIA1","TLR4","TMEM106B","TNFSF4","TOMM40","TP53","TRAF7","TRANK1","TREM2","TREX1","TTPA","TUBG1","TWNK","TYROBP","UBAC2","UGT1A1","USP48","USP8","VAMP1","VCP","XPR1","YY1","ZNF365"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DIFFICULTY_WALKING":{"collection":"C5:HPO","systematicName":"M35791","pmid":"","exactSource":"HP:0002355","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002355","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DIFFICULTY_WALKING","geneSymbols":["AARS1","ABCD1","ABHD5","ACOX1","ACTA1","ACTL6B","ADAR","ADCY5","AGRN","AKT1","ALAD","ALG14","ALG2","ALS2","ANO5","AOPEP","AP3B2","AP4B1","AP4E1","AP4M1","AP4S1","ARL6IP1","ARSA","ARSI","ARV1","ASAH1","ATP13A2","ATP1A2","ATP1A3","ATP5MC3","ATP6V1A","ATP7B","B4GALNT1","BAP1","BICD2","BIN1","BSCL2","BVES","CACNA1A","CACNA1B","CACNA2D1","CAPN1","CAPN3","CCN6","CDK19","CDK8","CDKL5","CELF2","CHAT","CHCHD10","CIZ1","CLTC","CNKSR2","COASY","COL12A1","COL13A1","COL6A1","COL6A2","COL6A3","CPT1C","CRPPA","CRYAB","CSF1R","CYFIP2","CYP27A1","CYP27B1","CYP2R1","DAG1","DALRD3","DARS2","DDHD1","DDX6","DES","DHDDS","DHTKD1","DLAT","DMD","DNA2","DNM1","DNM1L","DNM2","DPAGT1","DYM","DYSF","EEF1A2","EIF2AK3","EIF2S3","ELOVL5","ERCC1","ERCC4","ERCC6","ERCC8","ERLIN1","FA2H","FBXO28","FBXO38","FDX2","FGF12","FGF13","FGF14","FHL1","FKRP","FKTN","FLNC","FLRT1","FTL","FUS","FZR1","GAA","GABBR2","GABRA2","GABRA5","GABRB2","GABRG2","GALC","GAN","GBA2","GBF1","GFPT1","GIPC1","GJB1","GJC2","GLE1","GMPPB","GNS","GOSR2","GPAA1","GPT2","GRID2","GRIN2D","GYG1","HACE1","HCN1","HERC1","HK1","HPCA","HSPB1","HSPB3","HTT","IBA57","IFIH1","INTS1","ISCU","ITPR3","KBTBD13","KCNA2","KCNB1","KCNC3","KCND3","KCNJ10","KLC2","KLHL41","KLHL9","KPNA3","KY","LPIN1","LRP12","LRP4","LSM11","LYSET","MARCHF6","MARS1","MATN3","MATR3","MECP2","MED25","MEGF10","MFN2","MICU1","MIEF2","MORC2","MPZ","MSTO1","MT-ATP6","MT-CO1","MT-CO3","MTMR14","MTRFR","MYF6","MYH7","MYO1H","MYO9A","MYOT","MYPN","NACC1","NDUFS8","NEB","NECAP1","NEFL","NF2","NKX2-1","NKX6-2","NOP56","NOTCH2NLC","NPR3","NTRK1","NTRK2","NUBPL","NUS1","OBSCN","ORAI1","PACS2","PARS2","PDGFB","PDK3","PEX6","PGAP1","PI4KA","PIK3CA","PKP1","PLEKHG5","PLP1","PMP2","PMP22","PNPLA2","POLG2","POMT1","POMT2","PPP3CA","PRX","PSAP","PUS3","PYCR2","RAB11B","RARS1","REEP1","RILPL1","RNASEH1","RNASEH2A","RNASEH2B","RNASEH2C","RNU12","RNU7-1","RSPRY1","RTN2","RYR1","SACS","SAMHD1","SBF2","SCN3A","SCN8A","SETX","SGCB","SGCD","SH3TC2","SIGMAR1","SLC13A5","SLC18A3","SLC1A2","SLC25A1","SLC25A19","SLC2A3","SLC30A10","SLC30A9","SLC34A3","SLC38A3","SLC5A7","SLC7A6OS","SLC9A7","SMARCB1","SMARCE1","SMO","SNAP25","SORD","SPART","SPG11","SPG21","SPTLC1","SQSTM1","STRADA","STUB1","SUFU","SURF1","SYNGAP1","SYNJ1","SYT2","SZT2","TAF1","TBC1D23","TCAP","TERT","TGM6","TIA1","TK2","TNNT1","TPK1","TPM2","TPM3","TPP1","TRAF7","TRAK1","TRAPPC11","TREX1","TRPV4","TTBK2","TTN","UBA5","UBAP1","USP9X","VAMP1","VCP","VDR","WARS1","WARS2","WASHC5","WDR48","WWOX","YARS1","YWHAG"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_WRITER_S_CRAMP":{"collection":"C5:HPO","systematicName":"M35792","pmid":"","exactSource":"HP:0002356","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002356","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WRITER_S_CRAMP","geneSymbols":["AOPEP","CASR","CIZ1","COL6A3","DRD2","FTL","GCH1","GNA11","HINT1","KCNA1","KCNN2","KCTD17","PLP1","PRRT2","SGCE","TBC1D24","TBP","THAP1","TOR1A","VPS16"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FREQUENT_FALLS":{"collection":"C5:HPO","systematicName":"M35794","pmid":"","exactSource":"HP:0002359","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002359","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FREQUENT_FALLS","geneSymbols":["ACTA1","ADAR","ADCY5","ADSS1","ALG14","ALG2","ARG1","ARHGEF2","ARSA","ASAH1","ATL1","ATP2B3","ATP6AP2","B4GALNT1","BSCL2","CACNA1A","CCDC78","CFL2","CHP1","CLN8","COL12A1","COL6A1","COL6A2","COL6A3","COLQ","COQ2","COX20","CRPPA","CWF19L1","DAB1","DNAJC13","DPAGT1","DYM","DYNC1H1","EIF4G1","FA2H","FHL1","FIG4","FKRP","FKTN","GALC","GBA1","GDAP1","GDAP2","GFPT1","GIGYF2","GJB1","GLRA1","GMPPB","GOSR2","GPHN","GRIN2A","GRM1","HADHA","HADHB","HINT1","ISCU","KIF1C","LAMB2","LMNB2","LRRK2","MAPT","MFN2","MICU1","MPZ","MRE11","MT-ATP6","MT-TE","MTPAP","MYPN","NDRG1","NDUFA1","NEB","NEFH","NEFL","NKX2-1","NOL3","NUDT2","NUP54","NUP62","OPA1","PANK2","PDE10A","PEX1","PEX16","PI4KA","PIK3R5","PLEC","PMP2","PMP22","POLG","POLG2","POLR3B","POMT1","PRNP","PSAP","PYROXD1","REEP1","RNU12","RPL10","RRM2B","RYR3","SCN4A","SCO2","SCYL1","SDHA","SDHAF1","SDHB","SDHD","SGCA","SGCG","SH3TC2","SLC12A6","SLC19A3","SLC25A1","SLC25A4","SLC25A42","SMG9","SNCA","SPTLC1","STIM1","TAF1","TPM2","TPM3","TTN","TWNK","VCP","VPS13D","VPS35","VWA1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SLEEP_DISTURBANCE":{"collection":"C5:HPO","systematicName":"M35795","pmid":"","exactSource":"HP:0002360","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002360","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SLEEP_DISTURBANCE","geneSymbols":["ABCB11","ABCB4","ABCC9","ACAT1","ACTA1","ADGRL1","ADH1C","ADNP","ADRB1","AFF4","AGA","AGO1","AGRN","AHDC1","AIFM1","AIP","AKT1","ALDH4A1","ALG13","ALMS1","ANK3","AP3B2","APOE","ARCN1","ARL3","ARNT2","ARSB","ARX","ASCL1","ASH1L","ASNS","ASPA","ASXL1","ASXL3","ATAD1","ATAD3A","ATN1","ATP10A","ATP1A2","ATP7B","ATP8B1","ATP9A","ATXN10","ATXN2","ATXN3","ATXN7","ATXN8OS","BAP1","BAZ1B","BCL11A","BCL7B","BICD2","BICRA","BMP2","BRAF","BRD4","BSCL2","BUD23","C2CD3","CA2","CABP4","CACNA1C","CACNA1I","CACNA2D1","CAMK2A","CAMK2B","CARS1","CASK","CCDC47","CDC42BPB","CDK13","CDKL5","CDON","CEP57","CHAMP1","CHAT","CHCHD2","CHD8","CHKA","CHRNA2","CHRNA4","CHRNB2","CIC","CISD2","CLCNKB","CLIP2","CLN3","CLN5","CNOT1","COA8","COL13A1","COL3A1","COLQ","COQ2","CORIN","CPOX","CREBBP","CRH","CRY1","CSNK1D","CSNK2A1","CTCF","CTNNB1","CTSH","CTSK","DBH","DCTN1","DDB1","DDC","DEAF1","DEPDC5","DHCR7","DHX30","DISP1","DKK1","DLL1","DMD","DMPK","DMXL2","DNA2","DNAJC13","DNAJC30","DNAJC6","DNMT1","DOK7","DPH1","DPH2","DPH5","DPYS","DUOX2","DYRK1A","EDN1","EEF1A2","EHMT1","EIF3F","EIF4G1","EIF4H","ELN","EMC10","EML1","EP300","EPG5","EPM2A","ERCC4","ERCC6","ERCC8","EXOC2","EXT2","FARS2","FBP1","FBXL3","FBXO11","FBXO28","FBXO7","FGF8","FGFR1","FGFR2","FGFR3","FKBP6","FKRP","FKTN","FLCN","FLII","FLT1","FMR1","FOXE1","FOXG1","FOXH1","FRA10AC1","FTL","FXR1","GABBR2","GABRB3","GABRG2","GALNT2","GAS1","GATAD2B","GBA1","GCH1","GFAP","GIGYF2","GJB1","GLI2","GLRA1","GLRB","GLUD2","GNAI3","GNAO1","GNE","GNPTAB","GNS","GPHN","GPR101","GRB10","GRIA1","GRIA3","GRIN1","GRIN2A","GRM7","GSN","GTF2I","GTF2IRD1","GTF2IRD2","GUSB","H4C5","HACD1","HCRT","HDAC4","HDAC8","HDC","HEPHL1","HERC2","HESX1","HEXB","HGSNAT","HIBCH","HLA-DQB1","HLA-DRB1","HMBS","HMGCL","HRAS","HTRA2","HTT","HUWE1","IDS","IDUA","IFNG","IL12A","IL12RB1","IMPDH2","IQSEC2","IRF4","IRF5","ITGA7","KAT5","KAT6A","KCNA1","KCNT1","KDM6B","KIF11","KIF15","KIF21A","KMT2A","KMT5B","LAMB2","LARGE1","LARP7","LIAS","LIMK1","LRPPRC","LRRC32","LRRK2","LTBP3","MAGEL2","MAP3K20","MAPT","MBD5","MCM3AP","MECP2","MED12L","MED23","MED27","MEN1","METTL27","MFN2","MFSD8","MKRN3","MLXIPL","MMEL1","MOG","MRPS34","MT-TT","MTFMT","MTRR","MUSK","MYL2","MYO9A","MYOD1","NAA10","NACC1","NADK2","NAGLU","NAGS","NALCN","NCAPG2","NCF1","NDN","NDP","NDST1","NDUFAF2","NDUFS2","NEFH","NEFL","NEUROD2","NF1","NF2","NFIX","NGLY1","NHLRC1","NIPBL","NKX2-1","NKX2-5","NODAL","NOL3","NONO","NOTCH3","NPAP1","NR1H4","NR4A2","NSDHL","NTNG1","NUP88","OCA2","OTX2","P2RY11","P4HTM","PARK7","PAX8","PCGF2","PDE2A","PDGFB","PER2","PER3","PHIP","PHKA2","PHKG2","PHOX2B","PIDD1","PIGP","PIGQ","PIGT","PIK3CA","PINK1","PLCB4","PLCH1","PNKP","PODXL","POGZ","POLR2A","POMT1","POMT2","POU2AF1","POU3F3","PPT1","PRKAR1B","PRKN","PRMT7","PRNP","PROKR2","PRPH","PRPS1","PRR12","PSEN2","PTCH1","PTS","PUF60","PWAR1","PWRN1","PYGL","RAB11B","RAC1","RAD21","RAI1","RAPSN","RECQL4","RERE","RET","RFC1","RFC2","RFX7","RIC1","RNU7-1","RPS6KA3","RTTN","RUNX2","SARDH","SATB1","SATB2","SCN1B","SCN2A","SELENON","SEPSECS","SEPTIN9","SETBP1","SETD1A","SETD5","SGSH","SH3BP2","SHANK3","SHH","SIK1","SIM1","SIN3A","SIX3","SKI","SLC12A3","SLC18A2","SLC18A3","SLC22A5","SLC25A1","SLC25A13","SLC25A22","SLC26A4","SLC2A1","SLC2A3","SLC32A1","SLC35C1","SLC5A7","SLC6A5","SLC9A6","SLITRK1","SMARCB1","SMARCC2","SMARCE1","SMC1A","SMC3","SMO","SNAP25","SNCA","SNCAIP","SNORD115-1","SNORD116-1","SNRPN","SOD1","SOX2","SOX3","SPART","SPIB","SPOP","SPR","SPTBN1","SRPX2","STAG2","STIL","STOX1","STUB1","STX1A","SUCLG1","SUFU","SUPT16H","SYNGAP1","SYNJ1","SYT1","SYT2","TAF1","TANC2","TBC1D20","TBC1D24","TBK1","TBL2","TBP","TCF20","TCF4","TDGF1","TDP2","TELO2","TERT","TFAP2B","TFE3","TGIF1","TICAM1","TIMELESS","TLR3","TMEM270","TNFSF15","TNFSF4","TNNT1","TNPO3","TNRC6B","TPM2","TPM3","TRAF3","TRAF7","TRANK1","TRIM8","TRIO","TRPV4","TSC1","TSC2","TSEN15","TSEN2","TSEN34","TSEN54","TSHR","TSPYL1","TTC5","TTI2","TUBA1A","TUBB3","TWIST1","TWNK","UBE3A","UBE3C","UCHL1","UNC80","UNC93B1","UQCC3","USP7","VAMP1","VPS13A","VPS13C","VPS35","VPS37D","VPS4A","VPS51","VRK1","WAC","WDR4","WDR45","WDR73","WFS1","YY1","ZBTB20","ZBTB7A","ZEB2","ZIC2","ZMYM2","ZNF365"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PSYCHOMOTOR_DETERIORATION":{"collection":"C5:HPO","systematicName":"M35796","pmid":"","exactSource":"HP:0002361","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002361","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PSYCHOMOTOR_DETERIORATION","geneSymbols":["ATP6V0A2","ATP6V1A","ATP6V1E1","CLN3","COG2","GALC","GALK1","HEXA","KCNQ2","KCNQ3","KMT2A","PLA2G6","PLP1","PPT1","PRRT2","PSAP","RNASEH1","RRM2B","SCN2A","SCN8A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SHUFFLING_GAIT":{"collection":"C5:HPO","systematicName":"M35797","pmid":"","exactSource":"HP:0002362","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002362","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHUFFLING_GAIT","geneSymbols":["ADH1C","ATXN2","ATXN8OS","CLN3","COL2A1","CSF1R","DCTN1","DNAJC13","DNAJC6","EIF4G1","FBXO7","GBA1","GIGYF2","GLUD2","KDM5C","L1CAM","LMNA","LRRK2","MAPT","MECP2","MT-TT","NAA10","NR4A2","PODXL","POLG","PRKAR1B","RAB39B","SGCD","SLC18A2","SNCA","SNCAIP","SYNJ1","TAF1","TBP","TIMM8A","TK2","TMEM106B","TRPV4","VAPB","VPS35","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_BRAINSTEM_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M35798","pmid":"","exactSource":"HP:0002363","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002363","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BRAINSTEM_MORPHOLOGY","geneSymbols":["ABCD1","ADCY5","ADGRG1","AGTPBP1","AHCY","AHI1","AIFM1","AKT1","ALG3","AMPD2","ANGPTL6","APC2","ARHGEF2","ARL3","ASNS","ASXL1","ATP1A3","ATP6V0A1","ATXN1","ATXN2","ATXN8OS","B3GALNT2","B4GAT1","BAP1","BLTP1","BRF1","CACNA1A","CACNA1G","CASK","CCDC88C","CCM2","CDC40","CDON","CEP290","CEP55","CERS1","CHD2","CHMP1A","CIT","CLCN3","CLP1","CLTC","COASY","COG5","COG8","COL3A1","CRPPA","CSPP1","CTNNA2","CUX2","CYP27A1","DAG1","DCC","DEGS1","DISP1","DKK1","DLL1","DNAJC19","DNAJC3","DNM1","DNM1L","DNMT1","DOCK7","DPM1","DYNC1H1","DYNC1I2","DYRK1A","ECHS1","ELOVL5","EN1","ENG","EPG5","ETHE1","EXOC2","EXOC7","EXOSC1","EXOSC3","EXOSC8","EXOSC9","FA2H","FARS2","FGF8","FGFR1","FGFR3","FH","FKRP","FKTN","FLI1","FLVCR2","FMR1","FOXH1","FOXRED1","GABRB3","GALC","GAS1","GET4","GFAP","GFM2","GLI2","GMPPB","GNAO1","GPHN","GTPBP3","IDH1","INPP5E","KIAA0586","KIF1A","KIFBP","KPNA3","KRIT1","LAMA1","LAMA2","LAMB1","LARGE1","LMNB1","LYRM7","MAB21L1","MACF1","MAPK10","MARS2","MAST1","MDH1","MED17","MED23","MFSD2A","MINPP1","MT-ND1","MT-ND2","MT-ND3","MTRFR","MTRR","MYH3","MYMK","NAGA","NDE1","NDUFA1","NDUFA11","NDUFA6","NDUFAF1","NDUFAF2","NDUFAF3","NDUFAF4","NDUFAF5","NDUFAF8","NDUFB10","NDUFB11","NDUFB3","NDUFB9","NDUFS1","NDUFS2","NDUFS3","NDUFS4","NDUFS6","NDUFS7","NDUFS8","NDUFV1","NDUFV2","NF2","NFIX","NODAL","NPHP1","NSRP1","NUBPL","OPA1","PAFAH1B1","PCLO","PDCD10","PDGFB","PDHB","PDHX","PI4KA","PIEZO2","PIGA","PIGS","PIK3CA","PLCH1","PLK4","PMM2","PMPCB","PNKP","POGZ","POMGNT1","POMK","POMT1","POMT2","PPIL1","PPP1R15B","PPP2CA","PPP2R1A","PRDM13","PRDX3","PTCH1","PTEN","PYCR2","RAB11B","RAC1","RANBP2","RARS2","RELN","RERE","RNASEH1","ROBO1","ROBO3","RORA","RPGRIP1L","RTTN","SACS","SCN1A","SEPSECS","SETD2","SETX","SHH","SIX3","SLC19A3","SLC25A46","SLC35A2","SLC5A6","SMARCA2","SMARCB1","SMARCE1","SMC1A","SMO","SMPD4","SNX14","SPTAN1","STAG2","STIL","STUB1","SUFU","SYNE1","TBC1D23","TBCD","TBP","TDGF1","TERT","TGFBR3","TGIF1","THSD1","TIMMDC1","TMEM126B","TMEM216","TMEM237","TMEM67","TMTC3","TMX2","TNFRSF11A","TOE1","TRAF7","TRAPPC12","TRAPPC6B","TRMT10A","TRRAP","TSEN15","TSEN2","TSEN34","TSEN54","TUBA1A","TUBA8","TUBB","TUBB2A","TUBB2B","TUBB3","TWNK","UBE2A","USP9X","VLDLR","VPS4A","VPS51","VRK1","WARS2","WDR73","WNT1","ZIC1","ZIC2","ZNHIT3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPOPLASIA_OF_THE_BRAINSTEM":{"collection":"C5:HPO","systematicName":"M35799","pmid":"","exactSource":"HP:0002365","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002365","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASIA_OF_THE_BRAINSTEM","geneSymbols":["ADCY5","ADGRG1","APC2","ASNS","ASXL1","B3GALNT2","B4GAT1","BLTP1","BRF1","CASK","CDC40","CEP55","CHMP1A","CIT","COASY","COL3A1","CRPPA","CSPP1","CTNNA2","DYNC1H1","DYNC1I2","DYRK1A","EN1","EXOC2","EXOC7","FH","FKRP","FKTN","FLVCR2","GMPPB","INPP5E","KIAA0586","KIFBP","KPNA3","LAMB1","LARGE1","MACF1","MAST1","MED17","MFSD2A","MINPP1","MTRR","MYH3","MYMK","NDE1","NFIX","NSRP1","PAFAH1B1","PCLO","PDHB","PIEZO2","POMGNT1","POMK","POMT1","POMT2","PPIL1","PPP1R15B","PPP2CA","PRDM13","PTCH1","PTEN","PYCR2","RAB11B","RAC1","RPGRIP1L","SEPSECS","SMPD4","TMEM216","TMEM237","TMEM67","TMTC3","TMX2","TOE1","TRMT10A","TSEN15","TSEN2","TSEN34","TSEN54","TUBA1A","TUBA8","TUBB","TUBB2A","TUBB2B","TUBB3","USP9X","VLDLR","WARS2","WDR73"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_LOWER_MOTOR_NEURON_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M35800","pmid":"","exactSource":"HP:0002366","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002366","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LOWER_MOTOR_NEURON_MORPHOLOGY","geneSymbols":["ALS2","ASAH1","ATXN3","C19orf12","C9orf72","CHCHD10","CHMP2B","DCTN1","FUS","GRN","MAPT","MATR3","PLEKHG5","PSEN1","SETX","SPG11","SPG7","SQSTM1","TARDBP","TBK1","TMEM106B","TREM2","TRPM7","VCP","VPS13D","VPS41"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_VISUAL_HALLUCINATIONS":{"collection":"C5:HPO","systematicName":"M35801","pmid":"","exactSource":"HP:0002367","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002367","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VISUAL_HALLUCINATIONS","geneSymbols":["ATP13A2","CACNA1A","CLN3","CLN6","DEPDC5","DNAJC13","DNAJC5","EIF4G1","EPM2A","FBXO7","FIG4","GBA1","GIGYF2","LGI1","LRRK2","NHLRC1","NPRL2","NPRL3","PUS3","RELN","SNCA","SNCB","VPS35"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_POOR_COORDINATION":{"collection":"C5:HPO","systematicName":"M35802","pmid":"","exactSource":"HP:0002370","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002370","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POOR_COORDINATION","geneSymbols":["AFF2","APC2","ARL6","ATP9A","BBS1","CARS1","CCDC28B","CDC42BPB","CREBBP","EED","ELN","EP300","ERCC4","HSD17B10","HUWE1","KCNA1","KCND3","LZTFL1","MLXIPL","MTR","NAA20","NIPA1","NIPA2","NSD1","PDE2A","RNF168","SETD2","SIM1","SLC25A15","SLC6A8","SYNGAP1","TANGO2","TBC1D23","TCF20","TRANK1","TUBG1","TXN2","YWHAG"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LOSS_OF_SPEECH":{"collection":"C5:HPO","systematicName":"M35803","pmid":"","exactSource":"HP:0002371","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002371","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOSS_OF_SPEECH","geneSymbols":["AARS2","ABCD1","ADAR","ALDH18A1","ALS2","ARSA","BSCL2","CDKL5","CHMP2B","CLN8","ERLIN2","GABBR2","GALC","GM2A","GRIN2A","GRN","HGSNAT","IFIH1","IRF2BPL","LSM11","MAN2B1","MAPT","MECP2","NAXD","NPC1","NPC2","NTNG1","PPT1","PSAP","PSEN1","RNASEH2A","RNASEH2B","RNASEH2C","RNU7-1","SAMHD1","SARDH","SLC19A3","SMC1A","SPG7","SQSTM1","TMEM106B","TPK1","TREM2","TREX1","VCP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NORMAL_INTERICTAL_EEG":{"collection":"C5:HPO","systematicName":"M41258","pmid":"","exactSource":"HP:0002372","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002372","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NORMAL_INTERICTAL_EEG","geneSymbols":["KCNQ2","KCNQ3","PDE2A","PRRT2","SCN2A","SCN8A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DIMINISHED_MOVEMENT":{"collection":"C5:HPO","systematicName":"M35804","pmid":"","exactSource":"HP:0002374","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002374","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DIMINISHED_MOVEMENT","geneSymbols":["ACTA1","AIFM1","ALG11","ATP13A2","ATP7B","CFL2","CHRNA1","CHRND","CHRNG","CLTC","CNTN1","CP","DCTN1","DDC","DNAJC13","DNAJC6","DOK7","DPAGT1","DPM2","EIF4G1","ERBB3","FGF14","FLVCR2","FRRS1L","FXR1","GBA1","GFM1","GIGYF2","GLRA1","GPHN","HTT","KARS1","KIF21A","KLHL40","KLHL41","LAMA2","LAMP2","LGI3","LMOD3","LRRK2","MAPT","MPZ","MRPS16","MTM1","MUSK","MYOD1","NDUFA13","NEB","NR4A2","NUP88","PAM16","PANK2","PDE8B","PET117","PODXL","POLG","POLG2","PPP2R2B","PRNP","RAPSN","RRM2B","SLC18A3","SLC25A4","SLC2A3","SLC39A14","SLC52A2","SLC6A3","SNCA","SYNJ1","TH","TMEM240","TOR1A","TPM2","TPM3","TSPOAP1","TUBA1A","TWNK","VPS13C","VPS35","WDR45","WWOX"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPOKINESIA":{"collection":"C5:HPO","systematicName":"M35805","pmid":"","exactSource":"HP:0002375","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002375","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOKINESIA","geneSymbols":["ACTA1","AIFM1","ALG11","ATP13A2","ATP7B","CFL2","CLTC","DOK7","DPM2","FRRS1L","GBA1","GFM1","GLRA1","GPHN","HTT","KIF21A","KLHL40","KLHL41","LAMA2","LAMP2","LGI3","LMOD3","MPZ","MRPS16","MTM1","MUSK","MYOD1","NEB","NUP88","PAM16","PDE8B","PET117","POLG","POLG2","PPP2R2B","PRNP","RAPSN","RRM2B","SLC18A3","SLC25A4","SLC2A3","SLC39A14","SLC52A2","SLC6A3","SNCA","TH","TPM2","TPM3","TSPOAP1","TUBA1A","TWNK","WWOX"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DEVELOPMENTAL_REGRESSION":{"collection":"C5:HPO","systematicName":"M35806","pmid":"","exactSource":"HP:0002376","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002376","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEVELOPMENTAL_REGRESSION","geneSymbols":["AAAS","AARS1","AARS2","ACER3","ACOX1","ACTL6B","ADA2","ADAR","ADGRV1","ADH5","ADNP","ADPRS","AGA","AGTPBP1","AHCY","AIFM1","AMFR","AMN","AP3B2","ARHGEF9","ARSA","ARV1","ARX","ASAH1","ASPA","ATP11A","ATP1A2","ATP1A3","ATP5MK","ATP6V1A","ATP7A","BAZ1B","BCL7B","BICRA","BMPR1A","BOLA3","BSCL2","BUD23","C4A","CACNA1A","CACNA1B","CACNA1E","CACNA2D1","CAD","CAMK2B","CAMLG","CARS2","CASK","CCR1","CD40LG","CDK19","CDKL5","CELF2","CHD2","CHMP1A","CIC","CISD2","CLIP2","CLN5","CLN8","CLPB","CLTC","CNKSR2","CNP","CNPY3","COA8","COASY","COG8","COQ8A","COX15","COX4I1","CRLS1","CTNNB1","CUBN","CUX2","CYFIP2","DALRD3","DDB2","DEAF1","DHDDS","DMXL2","DNAJC19","DNAJC30","DNM1","DNM1L","DNMT3A","DPH5","DTYMK","EARS2","EEF1A2","EIF2B1","EIF3F","EIF4H","ELN","EPCAM","EPRS1","ERAP1","ERCC2","ERCC3","ERCC4","ERCC5","ERLIN2","ETHE1","FAN1","FAR1","FARS2","FAS","FBXO28","FBXW7","FDXR","FGF12","FGF13","FITM2","FKBP6","FOLR1","FOXG1","FRRS1L","FUCA1","FZR1","GABBR2","GABRA1","GABRA2","GABRA5","GABRB1","GABRB2","GABRD","GABRG2","GALC","GAMT","GCDH","GFAP","GFM2","GLA","GLB1","GLRX5","GM2A","GMPPA","GNAO1","GNB1","GRIN1","GRIN2A","GRIN2B","GRIN2D","GRM7","GTF2I","GTF2IRD1","GTF2IRD2","GUF1","H3-3A","HACE1","HCN1","HEPHL1","HEXB","HIBCH","HLA-B","HNRNPH2","HNRNPU","HPDL","HSD17B10","HSD17B4","HTT","IBA57","IDS","IFIH1","IFNGR1","IL10","IL12A","IL12A-AS1","IL23R","IPO8","IQSEC2","IRF2BPL","IRF4","ISCA1","ISCA2","KARS1","KCNA1","KCNA2","KCNB1","KCNQ2","KCNT1","KCNT2","KCTD7","KLRC4","KRAS","L2HGDH","LETM1","LIMK1","LIPT1","LNPK","LRPPRC","LSM11","LYRM7","MBTPS2","MECP2","MED27","MEFV","METTL27","MFF","MLH1","MLH3","MLXIPL","MMACHC","MRPS34","MSH2","MSH6","MT-ATP6","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND5","MT-ND6","MT-TK","MT-TL1","MT-TN","MT-TS1","MT-TV","MT-TW","MTRFR","NACC1","NAGA","NALCN","NARS2","NAXD","NAXE","NBEA","NCF1","NDP","NDUFA2","NDUFA6","NDUFAF6","NDUFC2","NDUFS1","NDUFS2","NDUFS4","NDUFS7","NDUFV1","NDUFV2","NECAP1","NEU1","NEUROD2","NFU1","NGLY1","NRXN1","NTNG1","NTNG2","NTRK2","NUP214","NUP54","NUP62","NUS1","PACS2","PAFAH1B1","PARS2","PCDH19","PCYT2","PDE2A","PET117","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PEX7","PHACTR1","PHYH","PIGA","PIGP","PIGQ","PIGT","PIGY","PIK3CA","PLA2G6","PLCB1","PLP1","PMPCB","PMS1","PMS2","PNKP","POC1A","POLG","POLR3A","POLR3B","POLR3GL","POLR3K","PPP2CA","PPP3CA","PSAP","PTCD3","PYCR2","RANBP2","REEP1","RFC2","RHOBTB2","RNASEH2A","RNASEH2B","RNASEH2C","RNU7-1","ROGDI","RPS20","SAMHD1","SATB1","SCN1A","SCN1B","SCN2A","SCN3A","SCN8A","SCN9A","SDHA","SDHAF1","SDHB","SDHD","SELENOI","SEMA4A","SEMA6B","SERAC1","SGPL1","SIK1","SIN3A","SLC12A5","SLC13A5","SLC19A3","SLC1A2","SLC25A22","SLC25A42","SLC29A3","SLC30A9","SLC32A1","SLC38A3","SLC39A14","SLC9A6","SMARCAL1","SMC1A","SMPD1","SON","SPTAN1","SPTBN1","ST3GAL3","ST3GAL5","STAT4","STN1","STX1A","STX1B","STXBP1","SUMF1","SURF1","SYNGAP1","SYNJ1","SZT2","TANC2","TANGO2","TBC1D24","TBC1D2B","TBCD","TBCE","TBCK","TBL2","TCEAL1","TCIRG1","TFE3","TGFBR2","TK2","TLR4","TMEM270","TMLHE","TNFRSF11A","TPK1","TPP1","TRAK1","TRAPPC11","TRAPPC12","TRAPPC2L","TRAPPC6B","TREM2","TREX1","TRIM8","TTC19","TTPA","TUBB4A","TUFM","TYROBP","UBA5","UBAC2","UBTF","UGP2","VAC14","VPS37D","WARS2","WASF1","WDR45","WFS1","WLS","WWOX","XPA","XPC","YWHAG","ZBTB18","ZBTB20","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HAND_TREMOR":{"collection":"C5:HPO","systematicName":"M35807","pmid":"","exactSource":"HP:0002378","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002378","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HAND_TREMOR","geneSymbols":["AARS2","ABCB6","ADRA2B","ANO3","ATP7B","CAMTA1","CNTN2","CTNND2","DRD3","ERLIN2","FGF14","GBA2","GCK","GJB1","KCNN2","MARCHF6","MARS1","MFN2","NEFL","NGF","NOP56","PDGFB","PDK3","PHIP","PLA2G6","PMP2","POLG","RAB3GAP2","SAMD12","SLC6A17","SMN1","SMN2","SPTLC1","STUB1","TAF1","TBC1D24","TFG","TOR1A","TRAPPC6B","TSHR","VRK1","YEATS2","ZFR","ZFYVE26"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FASCICULATIONS":{"collection":"C5:HPO","systematicName":"M35808","pmid":"","exactSource":"HP:0002380","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002380","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FASCICULATIONS","geneSymbols":["ADPRS","AGTPBP1","AIFM1","ANO10","ANXA11","AR","ASAH1","ATAD1","ATP11A","ATP1A2","ATP2A1","ATXN1","ATXN10","ATXN2","ATXN3","BICD2","CACNA1A","CCNF","CEP126","CHCHD10","CHMP2B","COL25A1","COQ6","CPLANE1","CRYAB","DCTN1","DENND5A","DMD","EEF2","EGR2","ELOVL4","ERGIC1","ERLIN1","EXOSC3","EXOSC8","EXOSC9","FBXO38","FUS","FXR1","GLA","GLRA1","GLRB","GPHN","GRN","HACE1","HEXB","HINT1","HNRNPA1","HNRNPA2B1","HSPB1","JAG1","KCNK9","KIF1C","LGI3","LRSAM1","LZTR1","MAPT","MARS1","MED11","MEGF10","MINPP1","MORC2","MPZ","NDUFS4","NEFH","NEFL","NF2","NOP56","OPTN","PFN1","PMP22","PNPLA2","PRPH","PRRT2","PRUNE1","PRX","PSAP","PSEN1","RAB7A","RMND1","RYR1","SCN1A","SCN4A","SCO2","SCYL2","SH3TC2","SLC25A21","SLC25A46","SLC52A2","SLC52A3","SLC6A5","SMARCB1","SMN1","SMN2","SOD1","SPG11","SPTLC1","SQSTM1","SYNE1","SYT2","TARDBP","TBCD","TBK1","TFG","TMEM106B","TOE1","TREM2","TSPYL1","TTC19","UBA1","UCHL1","VAPB","VCP","VPS13D","VPS41","VRK1","VWA1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APHASIA":{"collection":"C5:HPO","systematicName":"M35809","pmid":"","exactSource":"HP:0002381","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002381","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APHASIA","geneSymbols":["ABCA7","ACTB","ACTG1","ADA2","ADAMTS2","ADAMTSL2","AMER1","APP","ARVCF","ATP1A2","ATRX","CACNA1A","CFH","CFHR1","CFHR3","CHMP2B","CKAP2L","COL1A1","COL1A2","COMT","COX7B","CYLD","DEPDC5","DNM1L","EHMT1","FA2H","FGFR1","FLCN","FRRS1L","GJB1","GP1BB","GRIN2A","GRN","HCCS","HIRA","HLA-DQB1","HNRNPA1","HNRNPA2B1","HTRA1","JMJD1C","KCNC2","KRAS","L1CAM","L2HGDH","LGI1","MAPT","MT-CO1","MT-CO2","MT-CO3","MT-ND1","MT-ND4","MT-ND5","MT-ND6","MT-TF","MT-TH","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TW","NDUFA1","NDUFB11","NF2","NOTCH3","NPPA","NPRL2","NPRL3","NSDHL","OCRL","PLEC","PLP1","POLR1B","POLR1C","POLR1D","PRNP","PRRT2","PSEN1","PSEN2","RAI1","RELN","RREB1","SCN1A","SCN5A","SEC24C","SETBP1","SMARCA2","SMARCAL1","SORL1","SQSTM1","STS","TBX1","TCF4","TCOF1","TIA1","TMEM106B","TOMM40","TREM2","TREX1","UBTF","UFD1","VCP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INFECTIOUS_ENCEPHALITIS":{"collection":"C5:HPO","systematicName":"M35810","pmid":"","exactSource":"HP:0002383","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002383","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INFECTIOUS_ENCEPHALITIS","geneSymbols":["ATRX","BCL10","BTK","C4A","CCR1","CD27","CD40LG","CIITA","CLTRN","DBR1","ERAP1","FAS","HLA-B","HYOU1","IFNGR1","IKBKG","IL10","IL12A","IL12A-AS1","IL23R","IRF3","IRF4","KLRC4","L2HGDH","LBR","MEFV","NCKAP1L","PRF1","RFX5","RFXANK","RFXAP","SH2D1A","SLC6A19","SNORA31","STAT1","STAT4","STX11","STXBP2","TBK1","TICAM1","TLR3","TLR4","TMEM70","TOM1","TRAF3","UBAC2","UNC13D","UNC93B1","XIAP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FOCAL_IMPAIRED_AWARENESS_SEIZURE":{"collection":"C5:HPO","systematicName":"M35811","pmid":"","exactSource":"HP:0002384","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002384","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOCAL_IMPAIRED_AWARENESS_SEIZURE","geneSymbols":["ACSF3","ADGRV1","AGO1","AP2M1","APC2","ARHGEF9","ATP1A3","ATP6V0A1","ATP6V1B2","ATXN10","BRAT1","CACNA1A","CACNA1D","CACNA2D1","CAMK2B","CDH2","CEP85L","CIC","CLCN4","CLN8","CNOT1","CNPY3","CNTN2","CNTNAP2","CPA6","CRIPT","DEPDC5","DNM1","DNM1L","DOCK7","EPM2A","FGF13","FGFR3","FIG4","FMN2","FRRS1L","GABBR2","GABRA1","GABRA3","GABRD","GABRG2","GAL","GAMT","GJC2","GNAI1","GNAO1","GNB1","GNB2","GRIK2","GRIN1","GRIN2A","GRIN2B","HCN1","HID1","HTT","ITPR1","KCNB1","KCNC2","KCNQ2","KCNQ3","KCNQ5","KCNT1","KDM6A","KDM6B","KMT2D","LAMC3","LGI1","LGI4","LRP5","MACF1","MAST3","MICAL1","MTOR","MYT1L","NHLRC1","NPRL2","NPRL3","NSD1","NUS1","OPHN1","PAFAH1B1","PCDH19","PDE2A","PIGA","PLCB1","PNPLA8","POGZ","PPFIBP1","PRRT2","RELN","RNU12","SCN1A","SCN1B","SCN2A","SCN3A","SCN8A","SCN9A","SETD2","SLC12A5","SLC25A22","SLC31A1","STRADA","STX1B","STXBP1","SUPT16H","TANGO2","TBC1D24","TBK1","TGFB1","TICAM1","TLR3","TRAF3","TRIM8","TSC1","TSC2","UNC93B1","VPS11","VPS35L","ZNFX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PARAPARESIS":{"collection":"C5:HPO","systematicName":"M35812","pmid":"","exactSource":"HP:0002385","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002385","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PARAPARESIS","geneSymbols":["ABCD1","ADAR","ADGRG1","AFG3L2","AIMP1","ALDH3A2","AP5Z1","ARG1","ASAH1","ATP13A2","ATP5F1A","ATP6AP2","BCOR","BTD","C9orf72","CCDC88C","CHCHD10","CLTC","COASY","CPT1C","CYP27A1","EDNRB","FA2H","FAR1","FUS","GALC","GAMT","GBA1","GFAP","GJA1","GJB1","GJC2","GOT2","IDUA","IFIH1","LSM11","MAG","MED13L","MICOS13","MTHFR","MTPAP","MTRFR","NF1","OPA3","PEX16","PI4KA","PLP1","PNP","POLG","POLR3GL","PPP1R15B","PRPS1","PRUNE1","RNASEH2A","RNASEH2B","RNASEH2C","RNU7-1","SAMHD1","SDHA","SDHAF1","SDHB","SDHD","SELENOI","SLC19A3","SLC25A15","SLC30A10","SOX10","SP110","SPART","SPG11","SPG21","SPG7","SQSTM1","SRPX2","TARDBP","TBCE","TBK1","TNFRSF11A","TREX1","TRMT10A","TTC19","TTR","VCP","WDR45"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CAVUM_SEPTUM_PELLUCIDUM":{"collection":"C5:HPO","systematicName":"M35813","pmid":"","exactSource":"HP:0002389","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002389","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CAVUM_SEPTUM_PELLUCIDUM","geneSymbols":["ALG12","APC2","BANF1","CPLX1","CTBP1","FGFRL1","LETM1","LRRC32","MAPK1","MAPKAPK5","MED25","MITF","MUSK","NKX2-1","NSD1","NSD2","PACS1","PAFAH1B1","PCGF2","PIK3CA","PPP1R21","PPP2R5D","RAB5IF","RBM8A","RNF125","SETD2","SMG8","STT3A","TUBB2B","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_EEG_WITH_POLYSPIKE_WAVE_COMPLEXES":{"collection":"C5:HPO","systematicName":"M35814","pmid":"","exactSource":"HP:0002392","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002392","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EEG_WITH_POLYSPIKE_WAVE_COMPLEXES","geneSymbols":["ADGRG1","AGRN","AKT3","AP2M1","APC2","CACNB4","CHAT","CHD2","CILK1","CLCN2","COL13A1","CSTB","EFHC1","GABRA1","GABRD","GABRG2","JRK","KCNC2","KCNQ3","MTOR","MYO9A","NEXMIF","PGAP2","PGAP3","PI4KA","PIGL","PIGO","PIGV","PIGW","PIGY","PIK3CA","PRICKLE1","PSAT1","SCARB2","SCN1A","SETD1B","SLC18A3","SLC25A1","SLC2A1","SLC5A7","SLC6A1","SNAP25","SRPX2","SYNGAP1","SYT2","VAMP1","YEATS2","YWHAG"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LOWER_LIMB_HYPERREFLEXIA":{"collection":"C5:HPO","systematicName":"M35815","pmid":"","exactSource":"HP:0002395","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002395","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOWER_LIMB_HYPERREFLEXIA","geneSymbols":["ABCC9","AFG3L2","ALDH18A1","AMFR","ANO10","APOE","ARL6IP1","ATL1","ATP13A2","CAPN1","CLDN11","COX4I1","CYP2U1","DKK1","DLAT","DPM1","FAR1","FARS2","FTL","GCH1","GJB1","GLUL","HARS1","HEXB","HPDL","IBA57","IFRD1","IMPDH2","KDM5C","KIF1A","KIF1C","KIF5A","KPNA3","KY","LARGE1","LBR","LYRM4","MECP2","MKS1","MSL3","MT-TE","MTPAP","MTRFR","NIPA1","NONO","NR4A2","OCA2","PDE8B","PGM3","PLXNA1","PSEN1","RARS1","REEP1","REEP2","RUBCN","SACS","SDHA","SDHAF1","SDHB","SDHD","SELENOI","SIGMAR1","SLC33A1","SPG11","SPG7","ST3GAL5","SUMF1","SYNE1","TAF1","TH","TMEM63C","TNR","TREX1","TRRAP","TSPOAP1","UBAP1","UBE3A","UCHL1","UFC1","USP8","VCP","VLDLR","VPS11","WASHC5","ZFYVE26","ZNF142"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_COGWHEEL_RIGIDITY":{"collection":"C5:HPO","systematicName":"M35816","pmid":"","exactSource":"HP:0002396","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002396","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_COGWHEEL_RIGIDITY","geneSymbols":["ADAR","ATP6AP2","CP","DAB1","FRRS1L","GABRA1","GABRG2","GCH1","KCNA4","KCND3","KCNN2","MME","MT-ATP6","NUP54","NUP62","PCDH19","POLG","POLG2","RAB39B","RRM2B","SCN1A","SCN1B","SCN2A","SCN9A","SLC19A3","SLC25A4","SLC6A3","TK2","TMEM240","TWNK"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DEGENERATION_OF_ANTERIOR_HORN_CELLS":{"collection":"C5:HPO","systematicName":"M47060","pmid":"","exactSource":"HP:0002398","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002398","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEGENERATION_OF_ANTERIOR_HORN_CELLS","geneSymbols":["AGTPBP1","ANXA11","ASAH1","ATXN3","CEP126","CPLANE1","DCTN1","EXOSC3","EXOSC8","EXOSC9","IGHMBP2","NEFH","PRPH","SETX","SLC25A46","SMN1","SMN2","SOD1","TFG","UBA1","VRK1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_STROKE_LIKE_EPISODE":{"collection":"C5:HPO","systematicName":"M35817","pmid":"","exactSource":"HP:0002401","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002401","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_STROKE_LIKE_EPISODE","geneSymbols":["AMACR","DPAGT1","DPM3","HTRA1","LIG3","LRPPRC","MT-CO1","MT-CO2","MT-CO3","MT-CYB","MT-ND1","MT-ND4","MT-ND5","MT-ND6","MT-TC","MT-TF","MT-TH","MT-TK","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TV","MT-TW","NDUFA8","PMM2","PRNP","RFT1","STIM1","TTR","WFS1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_POSITIVE_ROMBERG_SIGN":{"collection":"C5:HPO","systematicName":"M35818","pmid":"","exactSource":"HP:0002403","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002403","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POSITIVE_ROMBERG_SIGN","geneSymbols":["CAMTA1","FLVCR1","IRF2BPL","KNSTRN","LITAF","MFN2","MTTP","NEFL","OPA3","PDXK","PIK3CD","PLD3","POLG","POLR3A","POU4F1","RFC1","RIPOR2","RNASEH1","RNF170","SH3TC2","SPG11","TBP","TTPA","TTR","TWNK","XRCC1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LIMB_DYSMETRIA":{"collection":"C5:HPO","systematicName":"M35819","pmid":"","exactSource":"HP:0002406","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002406","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIMB_DYSMETRIA","geneSymbols":["CYP7B1","DAB1","GBA2","GRM1","KCNC3","NF1","PDGFB","PDGFRB","POLG","PPP2R2B","RNASEH1","RRM2B","SLC20A2","WASHC5"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CEREBRAL_ARTERIOVENOUS_MALFORMATION":{"collection":"C5:HPO","systematicName":"M35820","pmid":"","exactSource":"HP:0002408","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002408","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CEREBRAL_ARTERIOVENOUS_MALFORMATION","geneSymbols":["ACVRL1","ENG","EPHB4","IL6","KRAS","RASA1","SMAD4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_AQUEDUCTAL_STENOSIS":{"collection":"C5:HPO","systematicName":"M35821","pmid":"","exactSource":"HP:0002410","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002410","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AQUEDUCTAL_STENOSIS","geneSymbols":["AP1S2","CHD7","CLCN3","DONSON","FANCB","FGFR1","FGFR2","GON7","L1CAM","LAGE3","NF1","NUP107","NUP133","OSGEP","PLCH1","ROBO1","SEMA3E","SF3B4","SLC12A6","SMARCC1","TP53RK","TPRKB","TTC26","WDR4","WDR73","YRDC","ZIC3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MYOKYMIA":{"collection":"C5:HPO","systematicName":"M35822","pmid":"","exactSource":"HP:0002411","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002411","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MYOKYMIA","geneSymbols":["ABCD1","ADCY5","ATP13A2","ATP2A1","CACNA1G","GSN","HINT1","KCNA1","KCNQ2","LGI3","MORC2","PNKD","PNPT1","PPP2R2B","PRKCG","SOD1","SPTBN2","TBCK","UCHL1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LEUKODYSTROPHY":{"collection":"C5:HPO","systematicName":"M35823","pmid":"","exactSource":"HP:0002415","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002415","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LEUKODYSTROPHY","geneSymbols":["ABAT","ACER3","ACOX1","ADAR","AIMP1","AIMP2","ALG8","ARSA","ATP11A","BOLA3","COA8","COX6B1","CTC1","DAG1","DARS2","EDNRB","EPRS1","ERCC6","EXOSC5","FA2H","FBP2","FBXL4","FOXRED1","GJC2","GLRX5","GTPBP3","HIKESHI","HSPD1","HYCC1","IBA57","IFIH1","ISCA1","ISCA2","KARS1","LIAS","LMNB1","LSM11","MT-ND1","MT-ND2","MT-ND3","NADK2","NDUFA1","NDUFA11","NDUFA6","NDUFAF1","NDUFAF2","NDUFAF3","NDUFAF4","NDUFAF5","NDUFAF8","NDUFB10","NDUFB11","NDUFB3","NDUFB9","NDUFS1","NDUFS2","NDUFS3","NDUFS4","NDUFS6","NDUFS7","NDUFS8","NDUFV1","NDUFV2","NKX6-2","NOTCH2NLC","NUBPL","PC","PEX1","PEX10","PEX16","PI4KA","PLEKHG2","PLP1","PNPT1","POLR1C","POLR3A","POLR3B","PSAP","PYCR2","RARS1","REPS1","RNASEH2A","RNASEH2B","RNASEH2C","RNU7-1","SAMHD1","SDHB","SLC16A2","SLC35B2","SNORD118","SOX10","SP110","SPTBN1","TAOK1","TIMMDC1","TMEM106B","TMEM126B","TMEM63A","TREX1","TUBB4A","TUFM"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SUBEPENDYMAL_CYSTS":{"collection":"C5:HPO","systematicName":"M35824","pmid":"","exactSource":"HP:0002416","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002416","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUBEPENDYMAL_CYSTS","geneSymbols":["D2HGDH","GLUL","PDHX","PEX1","PLCH1","TUBGCP2","TXN2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_MIDBRAIN_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M35825","pmid":"","exactSource":"HP:0002418","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002418","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MIDBRAIN_MORPHOLOGY","geneSymbols":["ADH1C","AHI1","ARL13B","ARL3","ARMC9","ATP7B","ATXN2","ATXN3","ATXN8OS","B9D1","B9D2","BRF1","C2CD3","CC2D2A","CDON","CEP104","CEP120","CEP290","CEP41","CPLANE1","CSPP1","DISP1","DLL1","EXOC2","FAM149B1","FBXO7","FGF8","FOXH1","FTL","GALC","GAS1","GBA1","GCH1","GLI2","GLUD2","GTPBP2","IFT74","IMPDH2","INPP5E","KIAA0586","KIAA0753","KIF7","LRRK2","MAPT","MKS1","MT-TT","NODAL","NPHP1","NR4A2","OFD1","PDE6D","PIBF1","PRKN","PTCH1","RPGRIP1L","SHH","SIX3","SLC35A2","SLC44A1","SNCA","SNCAIP","SPG11","STIL","SUFU","TBCE","TBP","TCTN1","TCTN3","TDGF1","TGIF1","TMEM107","TMEM138","TMEM216","TMEM218","TMEM231","TMEM237","TMEM67","TOGARAM1","TOPORS","VPS41","WDR45","ZIC2","ZNF423"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MOLAR_TOOTH_SIGN_ON_MRI":{"collection":"C5:HPO","systematicName":"M35826","pmid":"","exactSource":"HP:0002419","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002419","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MOLAR_TOOTH_SIGN_ON_MRI","geneSymbols":["AHI1","ARL13B","ARL3","ARMC9","B9D1","B9D2","C2CD3","CC2D2A","CEP104","CEP120","CEP290","CEP41","CPLANE1","CSPP1","EXOC2","FAM149B1","IFT74","INPP5E","KIAA0586","KIAA0753","KIF7","MKS1","NPHP1","OFD1","PDE6D","PIBF1","RPGRIP1L","SUFU","TCTN1","TCTN3","TMEM107","TMEM138","TMEM216","TMEM218","TMEM231","TMEM237","TMEM67","TOGARAM1","TOPORS","ZNF423"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_POOR_HEAD_CONTROL":{"collection":"C5:HPO","systematicName":"M35827","pmid":"","exactSource":"HP:0002421","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002421","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POOR_HEAD_CONTROL","geneSymbols":["AARS1","ACTA1","ACTL6B","ADCY5","ADNP","AGRN","AHCY","ALG13","ALG14","ALG2","AP3B2","AP3D1","ARV1","ARX","ASPA","ATP1A2","ATP1A3","ATP6V1A","ATP7A","BOLA3","CACNA1A","CACNA1B","CACNA1G","CACNA2D1","CAMK2B","CAMLG","CASK","CDK19","CDKL5","CELF2","CHAT","CHRNB1","CHRND","CLP1","CLTC","CNKSR2","COG8","COL13A1","COLQ","COX4I1","CPLX1","CYFIP2","DAG1","DALRD3","DHDDS","DHFR","DHX16","DMXL2","DNM1","DPAGT1","DPM2","EARS2","EBF3","EEF1A2","ELP2","EXOSC3","EXOSC9","FARS2","FBXO28","FGF12","FGF13","FHL1","FKBP14","FKRP","FOXRED1","FZR1","GABBR2","GABRA2","GABRA5","GABRB2","GABRG2","GALC","GEMIN4","GFM2","GFPT1","GJC2","GM2A","GMPPB","GNAO1","GNB5","GNPTAB","GPHN","GRIN1","GRIN2A","GRIN2D","GRM7","HACD1","HCN1","HEXA","HIVEP2","HPRT1","HSD17B10","HSPD1","IFIH1","IFT140","INPP5E","IREB2","ITGA7","KCNA1","KCNA2","KCNB1","KCNC2","LAMB2","LGI4","LMNA","LYRM4","MAP3K20","MDH2","MEGF10","MFSD2A","MICOS13","MPZ","MRPS25","MT-ND1","MT-ND2","MT-ND3","MYH7","MYL2","MYO9A","MYPN","NACC1","NADK2","NDE1","NDUFA1","NDUFA10","NDUFA11","NDUFA13","NDUFA6","NDUFA8","NDUFAF1","NDUFAF2","NDUFAF3","NDUFAF4","NDUFAF5","NDUFAF8","NDUFB10","NDUFB11","NDUFB3","NDUFB9","NDUFS1","NDUFS2","NDUFS3","NDUFS4","NDUFS6","NDUFS7","NDUFS8","NDUFV1","NDUFV2","NECAP1","NEUROD2","NGLY1","NONO","NTRK2","NUBPL","NUS1","OSTM1","PACS2","PAFAH1B1","PARS2","PCLO","PET100","PHACTR1","PIEZO2","PIGF","PIGP","PIGQ","PLP1","PMPCB","PNKP","PNPT1","POMK","PPP3CA","PSAP","PTS","RALGAPA1","RARS1","RARS2","SCN1B","SCN2A","SCN3A","SCN8A","SDHA","SDHAF1","SDHB","SDHD","SELENON","SIK1","SLC13A5","SLC16A2","SLC18A2","SLC18A3","SLC1A2","SLC25A1","SLC25A12","SLC25A22","SLC32A1","SLC35A2","SLC38A3","SLC39A8","SLC5A6","SLC5A7","SMN1","SNAP25","SNAP29","SPTBN2","SPTBN4","SUCLG1","SYNGAP1","SYNJ1","SYT2","SZT2","TIMMDC1","TMEM126B","TMEM63A","TNNT1","TPM2","TPM3","TRAK1","TREX1","TRIM8","TRIP4","TTN","UBA5","UFC1","VAMP1","VARS1","VPS50","WARS2","WWOX","YWHAG","ZNF526"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LONG_TRACT_SIGNS":{"collection":"C5:HPO","systematicName":"M35828","pmid":"","exactSource":"HP:0002423","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002423","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LONG_TRACT_SIGNS","geneSymbols":["APOE","APP","CYP27A1","GTF2E2","MPO","NOS3","PLAU","TNFRSF11A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ANARTHRIA":{"collection":"C5:HPO","systematicName":"M35829","pmid":"","exactSource":"HP:0002425","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002425","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANARTHRIA","geneSymbols":["ALDH18A1","ALS2","ATP13A2","DNAJC6","FA2H","FAR1","FTL","FUS","KMT2B","PODXL","SIGMAR1","SPG11","SPTLC1","SYNJ1","TBCE","UBA1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_EXPRESSIVE_APHASIA":{"collection":"C5:HPO","systematicName":"M35830","pmid":"","exactSource":"HP:0002427","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002427","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EXPRESSIVE_APHASIA","geneSymbols":["CHMP2B","DEPDC5","FA2H","GJB1","GRN","MAPT","NPRL2","NPRL3","PSEN1","TMEM106B","TREM2","VCP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MENINGOCELE":{"collection":"C5:HPO","systematicName":"M35831","pmid":"","exactSource":"HP:0002435","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002435","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MENINGOCELE","geneSymbols":["ALX4","ARPC4","ARVCF","B3GALNT2","BMPER","CCL2","CEP290","COL18A1","COMT","CPLANE1","CRPPA","CSPP1","DACT1","DLL3","FKRP","FKTN","FLNA","FRAS1","FREM2","FUZ","GJA1","GLI3","GMPPB","GP1BB","GRIP1","H19","HES7","HIRA","HNRNPK","IGF2","INPP5E","JMJD1C","KCNQ1OT1","KIAA0586","LARGE1","LFNG","MESP2","MSX2","NOTCH3","OFD1","PAX3","POMGNT1","POMT1","POMT2","PORCN","PTCH1","RIPPLY2","RREB1","SC5D","SEC24C","SIN3A","SMO","SNRPB","TBX1","TBXT","TMEM216","TMEM237","UFD1","VANGL1","VANGL2","WNT7A","ZIC3","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_OCCIPITAL_MENINGOCELE":{"collection":"C5:HPO","systematicName":"M35832","pmid":"","exactSource":"HP:0002436","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002436","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OCCIPITAL_MENINGOCELE","geneSymbols":["ARVCF","COL18A1","COMT","CPLANE1","GP1BB","HIRA","INPP5E","JMJD1C","KIAA0586","PTCH1","RREB1","SEC24C","SMO","TBX1","UFD1","WNT7A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CEREBELLAR_MALFORMATION":{"collection":"C5:HPO","systematicName":"M35833","pmid":"","exactSource":"HP:0002438","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002438","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CEREBELLAR_MALFORMATION","geneSymbols":["AFF3","AGTPBP1","AHDC1","ALG3","AP1S2","ARID1A","ARID1B","ARID2","ARMC9","ASXL1","ATP6V0A2","ATP6V1A","ATP6V1B2","ATP6V1E1","B3GALNT2","B4GALT1","B4GAT1","B9D1","B9D2","BAZ1B","BCL7B","BCOR","BICRA","BLTP1","BUB1","BUB1B","BUB3","BUD23","C2CD3","CC2D2A","CCDC22","CDC42","CDC45","CDKN1C","CEP120","CEP290","CEP57","CHD4","CHD7","CLIP2","COL3A1","COL4A1","CPT2","CREBBP","CRPPA","CSF1R","CSPP1","CTSK","CWC27","DACT1","DAG1","DDX3X","DENND5A","DHCR7","DHDDS","DKK1","DNAJC30","DNMT3A","DOCK6","DOK7","DPF2","DPH1","DPH2","DPYSL5","DYNC2H1","DYNC2I1","DYNC2I2","EBP","EIF4H","ELN","EP300","ERF","ESCO2","EVC","EVC2","EXOSC3","EXOSC8","EXOSC9","FANCI","FAR1","FBN1","FGFR1","FGFR2","FGFR3","FKBP6","FKRP","FKTN","FLNA","FLVCR2","FOXF1","FTO","FUZ","GJB2","GJB6","GLI3","GMPPB","GNAQ","GPC3","GPC4","GRIA3","GRM1","GTF2I","GTF2IRD1","GTF2IRD2","GTPBP2","H3-3A","HES7","HMGA2","HRAS","HYLS1","IFT80","IGF2","IL11RA","KANSL1","KCNQ1","KCNQ1OT1","KIAA0586","KIF21A","KIF5A","KIF7","KRAS","LAMA1","LARGE1","LEMD3","LIMK1","LONP1","MAB21L1","MAF","MAN2B1","MAP3K7","MBTPS2","METTL27","MID1","MKS1","MLXIPL","MT-CYB","MTM1","MUSK","MYOD1","NCF1","NFIA","NFKB2","NONO","NOTCH2","NOTCH3","NOVA2","NPHP3","NRAS","NUP88","OFD1","OPHN1","PAX2","PDGFRB","PDHA1","PGAP2","PHEX","PHGDH","PIEZO2","PIGN","PIK3CA","PLCH1","PLG","PMM2","POLR3A","POLR3B","POMGNT1","POMGNT2","POMK","POMT1","POMT2","POR","PORCN","PPP1CB","PPP1R12A","PTCH1","PTH1R","RAD51","RAPSN","RECQL4","RFC2","RFWD3","RNF113A","RPGRIP1","RPGRIP1L","RRAS2","RXYLT1","SALL1","SC5D","SEMA3E","SEPSECS","SETBP1","SETD2","SF3B2","SH2B1","SIK3","SKI","SLC18A3","SLC25A46","SLC35A2","SLC39A14","SMARCA2","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SMG9","SMO","SNX14","SON","SOX11","SOX4","SPRED1","STAG1","STX1A","TAOK1","TBC1D24","TBL1XR1","TBL2","TCTN1","TCTN2","TCTN3","TGFBR1","TGFBR2","TMEM107","TMEM138","TMEM216","TMEM231","TMEM237","TMEM270","TMEM67","TMEM94","TMTC3","TONSL","TRIP13","TRPM3","TSEN15","TSEN2","TSEN34","TSEN54","TUBA1A","TUBB","TXNDC15","USP9X","VANGL1","VPS35L","VPS37D","VPS51","VRK1","WASHC5","WDR35","WDR73","WDR81","ZEB2","ZIC1","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DYSCALCULIA":{"collection":"C5:HPO","systematicName":"M35834","pmid":"","exactSource":"HP:0002442","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002442","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DYSCALCULIA","geneSymbols":["APC2","C9orf72","CACNA1A","CHCHD10","CHMP2B","CYLD","FMR1","FUS","GRN","HNRNPA1","HNRNPA2B1","MAP1B","MAPT","NSD1","PNKP","PSEN1","SETD2","SQSTM1","SRY","TARDBP","TBK1","TMEM106B","TREM2","VCP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPOTHALAMIC_HAMARTOMA":{"collection":"C5:HPO","systematicName":"M35835","pmid":"","exactSource":"HP:0002444","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002444","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOTHALAMIC_HAMARTOMA","geneSymbols":["CPLANE1","FAM149B1","GLI3","KIAA0753","KIF7","MAN2C1","OFD1","PDE6D","SIX6","SMO","SOX2","TCTN3","TIAM1","TMEM216","TOPORS","VPS16"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_TETRAPLEGIA":{"collection":"C5:HPO","systematicName":"M35836","pmid":"","exactSource":"HP:0002445","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002445","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TETRAPLEGIA","geneSymbols":["AIFM1","ALDH18A1","ALS2","ARSA","ARX","ATP1A2","ATP1A3","ATP5F1A","ATP5F1D","ATP5F1E","ATP5MK","ATPAF1","ATPAF2","BCAP31","BCAS3","BUB1B","CACNA1S","DOLK","DPYD","FGFR1","GABRA3","GALC","IFIH1","KCNJ18","KCNT1","KRAS","MC2R","MRAP","MT-ATP6","MT-ATP8","NADK2","NDUFA8","NHLRC2","NNT","PAFAH1B1","PNKP","PRF1","PRPS1","RANBP2","STAR","TBCD","TFG","TRAPPC2L","TXNRD2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ASTROCYTOSIS":{"collection":"C5:HPO","systematicName":"M35837","pmid":"","exactSource":"HP:0002446","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002446","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ASTROCYTOSIS","geneSymbols":["ADAR","CHMP2B","ERCC6","ERCC8","GRN","LAMA2","MAPT","MT-ATP6","MTOR","NUP54","NUP62","POLG","PRNP","PSEN1","SLC30A10","SQSTM1","STRADA","TMEM106B","TREM2","TSC1","TSC2","VCP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PROGRESSIVE_ENCEPHALOPATHY":{"collection":"C5:HPO","systematicName":"M35838","pmid":"","exactSource":"HP:0002448","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002448","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROGRESSIVE_ENCEPHALOPATHY","geneSymbols":["BSCL2","GLYCTK","HTRA1","KYNU","NADK2","POLG","SUCLA2","TBCE","TH","TREX1","TSPOAP1","WDR45"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LIMB_DYSTONIA":{"collection":"C5:HPO","systematicName":"M35839","pmid":"","exactSource":"HP:0002451","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002451","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIMB_DYSTONIA","geneSymbols":["AARS1","ACTB","AFG3L2","ALS2","ANO3","AOPEP","ARX","ATP1A3","ATP7B","BSCL2","CDON","CKAP2L","COL4A1","COL6A3","COX20","CYB5A","CYB5R3","DDC","DISP1","DLAT","DLL1","DTYMK","EIF2AK2","FGF8","FGFR1","FITM2","FOXH1","FTL","FUS","GAS1","GCDH","GCH1","GFM2","GLI2","GNAL","GNB1","HPCA","IMPDH2","JAM2","KMT2B","MAPT","MECR","NKX6-2","NODAL","NR4A2","PANK2","PARK7","PLCH1","PNPT1","PRKRA","PTCH1","SCO2","SHH","SIGMAR1","SIX3","SLC18A2","SLC35B2","SLC39A14","SLC6A3","SMC1A","SPATA5","SPG11","SPTLC1","STAG2","STIL","SYNE1","TAF1","TDGF1","TGIF1","TH","THAP1","TSPOAP1","TUBB4A","UBE3C","VPS11","VPS13A","VPS13C","VPS16","VPS37A","WARS2","YIF1B","ZIC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_GLOBUS_PALLIDUS_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M35840","pmid":"","exactSource":"HP:0002453","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002453","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_GLOBUS_PALLIDUS_MORPHOLOGY","geneSymbols":["AGO1","C19orf12","COASY","CYP27A1","CYP2U1","DLAT","FA2H","FTL","GCDH","GTPBP2","IDH1","KCNQ2","KMT2B","MMUT","NUDT2","PANK2","PLA2G6","POLR2A","SLC30A10","SLC44A1","VPS16","VPS41","WDR45"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_EYE_OF_THE_TIGER_ANOMALY_OF_GLOBUS_PALLIDUS":{"collection":"C5:HPO","systematicName":"M46073","pmid":"","exactSource":"HP:0002454","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002454","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EYE_OF_THE_TIGER_ANOMALY_OF_GLOBUS_PALLIDUS","geneSymbols":["C19orf12","COASY","DLAT","FA2H","FTL","NUDT2","PANK2","PLA2G6","VPS41","WDR45"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_HEAD_MOVEMENTS":{"collection":"C5:HPO","systematicName":"M35841","pmid":"","exactSource":"HP:0002457","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002457","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_HEAD_MOVEMENTS","geneSymbols":["AARS1","ALS2","CACNA1A","CACNA1H","DLAT","EIF2AK2","FMR1","FUS","GABRA1","GABRB3","GABRG2","GAMT","GJC2","GPR88","HIBCH","HSPD1","JRK","KARS1","KIF1C","LAMA1","LMNB1","MAPT","NAA10","NKX6-2","PEX10","PI4KA","PIGT","PLP1","PRNP","RNU12","SIGMAR1","SLC2A1","SPG11","SPTBN1","SPTLC1","TMEM63A","UCHL1","VAMP1","VPS13A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DISTAL_MUSCLE_WEAKNESS":{"collection":"C5:HPO","systematicName":"M35842","pmid":"","exactSource":"HP:0002460","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002460","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DISTAL_MUSCLE_WEAKNESS","geneSymbols":["AARS1","ABCA1","ABCD1","ABHD16A","ACTA1","ACTN2","ADSS1","AFG3L2","AGRN","AIFM1","ALDH18A1","ALG14","ALG2","ALS2","ANG","ANO5","ATL1","ATL3","ATP1A1","ATP1A2","ATP7A","ATXN1","ATXN3","BAG3","BICD2","BIN1","BSCL2","C19orf12","CACNA1A","CADM3","CAV3","CCND1","CHAT","CHCHD10","CHP1","COA7","COL12A1","COL13A1","COL6A1","COL6A2","COL6A3","COLQ","CPOX","CPT1C","CRYAB","DARS2","DCAF8","DCTN1","DDHD2","DES","DGUOK","DHH","DHTKD1","DNAJB2","DNM2","DNMT1","DPAGT1","DYNC1H1","DYSF","EGR2","ELOVL5","EMILIN1","ERLIN2","EXTL3","FBLN5","FGD4","FIG4","FKTN","FLNC","FLVCR1","FUS","GAN","GARS1","GBF1","GCH1","GDAP1","GFPT1","GIPC1","GJB1","GMPPB","GNB4","GNE","GRIA3","GTPBP2","GYG1","HADHA","HADHB","HARS1","HEXB","HINT1","HK1","HMBS","HNRNPA1","HNRNPA2B1","HSPB1","HSPB3","HSPB8","IBA57","IGHMBP2","IMPDH2","INF2","ISCU","ITPR3","JAG1","JAG2","JPH1","KIF1A","KIF1B","KLHL9","LAMB2","LAMP2","LDB3","LIG3","LITAF","LMNA","LRP12","LRSAM1","MAP3K20","MAPT","MARS1","MATR3","MCM3AP","MED25","MFN2","MLIP","MME","MORC2","MPV17","MPZ","MT-ATP6","MTMR14","MTMR2","MTRFR","MTTP","MYBPC1","MYH14","MYH2","MYH7","MYMK","MYO9A","MYOT","NAGA","NDRG1","NEB","NEFL","NOTCH2NLC","NR4A2","NUTM2B-AS1","OBSCN","PABPN1","PEX7","PHKA1","PLEC","PLEKHG5","PLIN4","PMP2","PMP22","PNKP","PNPLA2","PNPLA6","POLG","PPP1R15B","PRPS1","PRRT2","PRX","PTRH2","RAB7A","RAI1","REEP1","RELA","RFC1","RILPL1","RRM2B","RYR1","SACS","SARDH","SBF1","SBF2","SCN1A","SCYL1","SECISBP2","SETX","SH3TC2","SIGMAR1","SLC12A6","SLC18A3","SLC25A1","SLC25A19","SLC25A21","SLC5A6","SLC5A7","SMPX","SNAP25","SORD","SOX10","SPG11","SPTLC1","SPTLC2","SQSTM1","SYT2","TARDBP","TBK1","TCAP","TDP1","TIA1","TK2","TNPO3","TNR","TOR1AIP1","TPM3","TRMT10A","TRPV4","TTN","TWNK","TYMP","UBA1","VAMP1","VAPB","VCP","VHL","VPS13A","VPS13D","VWA1","WARS1","XRCC1","YARS1","ZC4H2","ZFTA"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DENSE_CALCIFICATIONS_IN_THE_CEREBELLAR_DENTATE_NUCLEUS":{"collection":"C5:HPO","systematicName":"M41259","pmid":"","exactSource":"HP:0002461","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002461","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DENSE_CALCIFICATIONS_IN_THE_CEREBELLAR_DENTATE_NUCLEUS","geneSymbols":["ERCC6","ERCC8","PDGFB","PDGFRB","SLC20A2","SNORD118"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SPASTIC_DYSARTHRIA":{"collection":"C5:HPO","systematicName":"M35844","pmid":"","exactSource":"HP:0002464","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002464","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPASTIC_DYSARTHRIA","geneSymbols":["AFG3L2","ALDH18A1","ALS2","AP4B1","AP4E1","AP4M1","AP4S1","ATP2B3","ATXN8OS","ERLIN2","FAR1","GBA2","GJB1","GLRX5","MAG","MAPT","MARS2","PEX6","PNPT1","POLR3A","PRNP","RAB3GAP2","SPART","SPG7","TDP1","VAMP1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_POOR_SPEECH":{"collection":"C5:HPO","systematicName":"M35845","pmid":"","exactSource":"HP:0002465","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002465","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POOR_SPEECH","geneSymbols":["ADK","ADPRS","ALG9","AP1S2","AP4B1","AP4E1","AP4M1","AP4S1","APC2","ASPA","ATAD3A","ATP10A","ATP1A1","ATP6V0A2","ATP6V1A","ATP6V1B2","ATP6V1E1","BRF1","CAD","CAMK2G","CASZ1","CCDC22","CDC42","CDON","CHKB","CHMP1A","CHMP2B","CHSY1","CIC","CLIC2","CNTNAP2","COG8","CSF1R","CTNNB1","DAG1","DIAPH1","DISP1","DLAT","DLL1","DOCK7","DYM","DYRK1A","EIF2S3","EXT2","FBXL3","FDXR","FGF12","FGF8","FGFR1","FKRP","FMN2","FOXH1","FOXP2","FOXRED1","FRMD4A","GABRD","GAMT","GAS1","GATA4","GATAD2B","GJC2","GLI2","GMPPB","GNPTAB","GPR88","GRN","GUSB","HDAC8","HEPHL1","HNRNPK","HS6ST2","HSPG2","IFNG","INPP5E","IQSEC2","KANSL1","KAT6A","KCNAB2","KIF14","KIF15","KMT2B","LARGE1","LAS1L","LRPPRC","LUZP1","MAN1B1","MAPT","MED13L","MED25","MID1","MID2","MMP23B","MRPS2","MTO1","NAA20","NAGS","NALCN","NDST1","NDUFA13","NDUFA6","NDUFS1","NGLY1","NODAL","NONO","NUBPL","OCA2","ODC1","OPHN1","PAK1","PAK3","PDPN","PIGC","PIGH","PLCH1","PLPBP","POMK","POMT1","POMT2","PPP1R15B","PPP2R1A","PPP2R5D","PRDM16","PRKCZ","PSEN1","PTCH1","PUS3","PYCR2","RAB39B","RAC1","RERE","RILPL1","RLIM","RNASET2","RTTN","SARDH","SASS6","SATB2","SET","SHH","SIX3","SKI","SLC19A3","SLC35A1","SLC39A14","SLC39A8","SLC6A17","SMARCA2","SMC1A","SMC3","SNAP25","SNRPN","SOBP","SPEN","SQSTM1","STAG2","STIL","SYNGAP1","SYT1","TAF2","TAF6","TBCD","TBCK","TDGF1","TELO2","TGIF1","TMEM106B","TRAPPC10","TRAPPC11","TREM2","TRIO","TRMT10A","TRMT5","TRRAP","TSC1","TSC2","TUBB3","TUBB4A","UBE2A","UBE3A","UBE4B","UNC80","UQCC2","VCP","VLDLR","VPS11","WDR45","WDR73","WIPI2","YME1L1","ZEB2","ZIC2","ZNF148"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NONPROGRESSIVE_CEREBELLAR_ATAXIA":{"collection":"C5:HPO","systematicName":"M35846","pmid":"","exactSource":"HP:0002470","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002470","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NONPROGRESSIVE_CEREBELLAR_ATAXIA","geneSymbols":["ABCB7","ATCAY","ATP2B3","CAMTA1","CWF19L1","DNAJC19","FRMD4A","ITPR1","NADK2","POU4F1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SMALL_CEREBRAL_CORTEX":{"collection":"C5:HPO","systematicName":"M35847","pmid":"","exactSource":"HP:0002472","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002472","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SMALL_CEREBRAL_CORTEX","geneSymbols":["ASPM","CDK13","CDK5RAP2","CENPJ","KIF14","MCPH1","TCF4","ZNF335"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_EXPRESSIVE_LANGUAGE_DELAY":{"collection":"C5:HPO","systematicName":"M35848","pmid":"","exactSource":"HP:0002474","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002474","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EXPRESSIVE_LANGUAGE_DELAY","geneSymbols":["AHDC1","ARID1B","ASXL1","CDON","DISP1","DLL1","DPYD","EHMT1","FGF8","FLCN","FOXH1","FOXP1","FOXP2","GAS1","GLI2","GNB1","GNE","GNPTAB","GRIA3","HERC1","KMT2C","KMT2D","MED23","NODAL","NSD1","POGZ","PTCH1","PUF60","RAI1","RSPRY1","SCN4A","SDHA","SDHAF1","SDHB","SDHD","SH2B1","SHH","SHMT2","SIX3","SLC25A36","SPATA5","SRCAP","STAG2","STIL","TAF1","TDGF1","TGIF1","TNNT1","TUBB3","WARS2","YARS1","YME1L1","ZEB2","ZIC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MYELOMENINGOCELE":{"collection":"C5:HPO","systematicName":"M35849","pmid":"","exactSource":"HP:0002475","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002475","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MYELOMENINGOCELE","geneSymbols":["ALX4","ARPC4","BMPER","CCL2","DACT1","FLNA","FRAS1","FREM2","FUZ","GLI3","GRIP1","H19","HES7","HNRNPK","IGF2","KCNQ1OT1","MSX2","OFD1","PAX3","PORCN","SC5D","SIN3A","SMO","SNRPB","TBXT","VANGL1","VANGL2","ZIC3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PRIMITIVE_REFLEX":{"collection":"C5:HPO","systematicName":"M35850","pmid":"","exactSource":"HP:0002476","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002476","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PRIMITIVE_REFLEX","geneSymbols":["AARS1","ALDH18A1","ATP13A2","CTSF","DCTN1","DNAJC6","DNMT1","DPM2","GLRB","GM2A","HADHA","HADHB","JPH3","MAPT","MME","NDUFS8","NGLY1","PIEZO2","PIGA","PSEN1","RAB18","SPG21","ST3GAL3","TREM2","TUBB3","TYROBP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PROGRESSIVE_SPASTIC_QUADRIPLEGIA":{"collection":"C5:HPO","systematicName":"M35851","pmid":"","exactSource":"HP:0002478","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002478","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROGRESSIVE_SPASTIC_QUADRIPLEGIA","geneSymbols":["ACP5","ARG1","ARSA","ATP13A2","FA2H","GM2A","NADK2","PAFAH1B1","PLAA","PLP1","PSAP","SPTBN1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HEPATIC_ENCEPHALOPATHY":{"collection":"C5:HPO","systematicName":"M35852","pmid":"","exactSource":"HP:0002480","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002480","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEPATIC_ENCEPHALOPATHY","geneSymbols":["ALMS1","DLD","EIF2AK3","FOCAD","NBAS","PCK1","RINT1","RYR1","SH2D1A","SLC25A13","TULP3","XIAP","ZNFX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BULBAR_SIGNS":{"collection":"C5:HPO","systematicName":"M35853","pmid":"","exactSource":"HP:0002483","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002483","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BULBAR_SIGNS","geneSymbols":["ACTA1","ALS2","ARSA","ATP1A2","ATP1A3","ATXN1","CACNA1A","CHCHD10","FIG4","FUS","GBA1","GFAP","GSN","KBTBD13","KLHL41","MATR3","MT-ATP6","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND5","MT-ND6","MT-TK","MT-TL1","MT-TV","MT-TW","MYPN","NEB","NEK1","PLA2G6","PLAA","PSAP","REEP1","RYR1","SIGMAR1","SLC1A3","SLC39A14","SPG11","SPTLC1","TFG","TPM2","TPM3","VAPB"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MYOTONIA":{"collection":"C5:HPO","systematicName":"M35854","pmid":"","exactSource":"HP:0002486","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002486","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MYOTONIA","geneSymbols":["ACTA1","ANO5","ATP2A1","CACNA1A","CACNA1S","CAV3","CAVIN1","CLCN1","CNBP","COX11","DMPK","DNAJB6","EMD","FHL1","GABRA3","HINT1","HSPG2","KCNA1","KCNE3","KCNJ18","LIFR","LMNA","PFKM","PURA","SCN4A","SGCG","SVIL","SYNE1","SYNE2","TMEM43","TTI2","UCHL1","VAPB","VMA21"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPERKINETIC_MOVEMENTS":{"collection":"C5:HPO","systematicName":"M35855","pmid":"","exactSource":"HP:0002487","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002487","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERKINETIC_MOVEMENTS","geneSymbols":["ALDH5A1","CACNA1B","CACNA1E","CAMK2B","CLPB","FRRS1L","GAD1","GCH1","GNAO1","GNE","GRIN1","GRIN2A","HSD17B10","IQSEC2","LETM1","MTRR","NEUROD2","NGLY1","PDE10A","PNKD","PRRT2","PSAP","PTS","PYCR2","RTTN","SCN1A","SCN2A","SLC6A3","SLC9A6","SUCLA2","SUCLG1","SYT1","THOC2","TRAPPC11","VPS13A","WARS2","YME1L1","ZNF142"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ACUTE_LEUKEMIA":{"collection":"C5:HPO","systematicName":"M35856","pmid":"","exactSource":"HP:0002488","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002488","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACUTE_LEUKEMIA","geneSymbols":["ABL1","ADA2","ADH5","APC2","ASXL1","ATM","ATRX","BAX","BCR","BLM","BRCA2","BUB1","BUB1B","BUB3","CALR","CDKN2A","CEBPA","CEP57","CHEK2","CHIC2","CLPB","DDX41","DKC1","DNAJC21","DNMT3A","DUT","DYNC2LI1","EFL1","ELANE","ERBB3","ETV6","EVC","EVC2","FLT3","GATA1","GATA2","GFI1","GLI1","GNB1","HAX1","HEATR3","IDH1","IKZF1","JAK2","KIT","KRAS","LIG4","LPP","MBD4","MDM2","MEFV","MLLT10","MPL","MSH2","NBN","NPM1","NSD1","NSUN2","NUMA1","NUP214","PICALM","PIGL","PRKACA","PRKACB","RARA","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS14","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS7","RUNX1","SAMD9","SAMD9L","SBDS","SETD2","SF3B1","SH2B3","SH3GL1","SMPD1","SPRED1","SRP19","SRP54","SRSF2","STS","TAL1","TAL2","TCF3","TCIRG1","TERT","TET2","THPO","TP53","TREM2","TRIP13","TSR2","TYROBP","UBE2T","WAS","WIPF1","XRCC4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INCREASED_CSF_LACTATE":{"collection":"C5:HPO","systematicName":"M35857","pmid":"","exactSource":"HP:0002490","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002490","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_CSF_LACTATE","geneSymbols":["AIFM1","ALDH4A1","ATP5PO","ATPAF2","CLPB","COA8","COQ8A","COX10","COX11","COX14","COX20","COX4I1","COX6B1","COX8A","DARS2","DNM1L","ECHS1","FARS2","FOXRED1","GFM1","GFM2","HPDL","HSD17B10","HTRA2","IBA57","LONP1","LRPPRC","LYRM4","LYRM7","MDH2","MECP2","MPV17","MRPS34","MT-ATP6","MT-CO1","MT-CO2","MT-CO3","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND5","MT-ND6","MT-TF","MT-TH","MT-TK","MT-TL1","MT-TN","MT-TQ","MT-TS1","MT-TS2","MT-TV","MT-TW","MTFMT","NADK2","NARS2","NAXE","NDUFA1","NDUFA10","NDUFA11","NDUFA12","NDUFA4","NDUFA6","NDUFA8","NDUFAF1","NDUFAF2","NDUFAF3","NDUFAF4","NDUFAF5","NDUFAF8","NDUFB10","NDUFB11","NDUFB3","NDUFB8","NDUFB9","NDUFS1","NDUFS2","NDUFS3","NDUFS4","NDUFS6","NDUFS7","NDUFS8","NDUFV1","NDUFV2","NFU1","NUBPL","PDHA1","PDHX","PET100","PET117","PNPT1","RARS2","RMND1","RRM2B","SCO2","SLC13A3","SLC25A19","SLC25A4","SLC2A1","SLC31A1","SLC39A8","SUCLA2","SUCLG1","SURF1","TIMM50","TIMMDC1","TMEM126B","TPK1","TRAPPC12","TRMT10C","TXN2","UQCC2","UQCC3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MORPHOLOGICAL_ABNORMALITY_OF_THE_CORTICOSPINAL_TRACT":{"collection":"C5:HPO","systematicName":"M35858","pmid":"","exactSource":"HP:0002492","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002492","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MORPHOLOGICAL_ABNORMALITY_OF_THE_CORTICOSPINAL_TRACT","geneSymbols":["ABCD1","ALS2","ATL1","BAZ1B","BCL7B","BUD23","CHCHD10","CLIP2","CPT1C","DCC","DCTN1","DEAF1","DNAJC30","DNAL4","EIF4H","ELN","FKBP6","FLII","FUS","GALC","GTF2I","GTF2IRD1","GTF2IRD2","IQSEC2","KPNA3","L1CAM","LIMK1","METTL27","MLXIPL","MT-ATP6","NCF1","NEFH","NIPA1","NTN1","PDHB","PLP1","PRPH","RAD51","RAI1","RFC2","RTN2","SLC33A1","SOD1","SPAST","SPG11","SPG7","SQSTM1","STX1A","TARDBP","TBK1","TBL2","TMEM270","UBAP1","VCP","VPS37D","WASHC5"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_UPPER_MOTOR_NEURON_DYSFUNCTION":{"collection":"C5:HPO","systematicName":"M35859","pmid":"","exactSource":"HP:0002493","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002493","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UPPER_MOTOR_NEURON_DYSFUNCTION","geneSymbols":["AAAS","AARS1","AARS2","AASS","ABCA12","ABCB7","ABCC6","ABCC8","ABCD1","ABHD12","ABHD16A","ACADS","ACAT1","ACER3","ACOX1","ACP5","ACTL6B","ADA2","ADAM22","ADAR","ADARB1","ADAT3","ADD3","ADGRG1","ADPRS","ADSL","AFF3","AFG3L2","AGA","AGR2","AGTPBP1","AIFM1","AIMP1","AIPL1","AKT1","AKT3","ALDH18A1","ALDH3A2","ALG11","ALG13","ALG3","ALG9","ALS2","AMACR","AMFR","AMPD2","ANG","ANGPTL6","ANK3","ANKLE2","ANO10","ANOS1","ANXA11","AP1G1","AP1S2","AP2M1","AP3B2","AP4B1","AP4E1","AP4M1","AP4S1","AP5Z1","APC","APC2","APOE","ARF1","ARFGEF2","ARG1","ARHGAP31","ARL6IP1","ARNT2","ARSA","ARSI","ARV1","ARX","ASAH1","ASNS","ASPA","ATAD1","ATAD3A","ATG5","ATL1","ATM","ATN1","ATP13A2","ATP1A2","ATP1A3","ATP2B3","ATP5F1A","ATP5F1D","ATP5F1E","ATP5MC3","ATP5MK","ATP6AP2","ATP6V0A1","ATP6V0A2","ATP6V1A","ATP6V1E1","ATP7A","ATPAF1","ATPAF2","ATRX","ATXN1","ATXN10","ATXN2","ATXN3","ATXN7","ATXN8OS","AUH","AUTS2","B3GALNT2","B3GALT6","B4GALNT1","B4GAT1","BAP1","BAZ1B","BCAP31","BCAS3","BCAT2","BCL11B","BCL7B","BCOR","BCS1L","BDNF","BEAN1","BICD2","BMPR1A","BOLA3","BRAT1","BSCL2","BTD","BUB1B","BUD23","C19orf12","C2orf69","C4A","C9orf72","CA2","CACNA1A","CACNA1B","CACNA1C","CACNA1D","CACNA1E","CACNA1G","CACNA1S","CACNA2D1","CAMK2A","CAMK2B","CAMLG","CAMSAP1","CAMTA1","CAPN1","CARS1","CARS2","CASK","CASZ1","CAV1","CBS","CCDC141","CCDC88C","CCNF","CCR1","CCT5","CDC40","CDK19","CDKL5","CDON","CELF2","CEP290","CEP85L","CFAP410","CFH","CFHR1","CFHR3","CHCHD10","CHD2","CHD7","CHMP1A","CHMP2B","CHP1","CIT","CKAP2L","CLCN3","CLCN4","CLDN11","CLIC2","CLIP2","CLN5","CLN8","CLP1","CLPB","CLTC","CNKSR2","CNOT1","CNP","CNPY3","CNTNAP1","CNTNAP2","COA8","COASY","COG2","COL3A1","COL4A1","COL4A2","COLGALT1","COPB1","COPB2","COQ2","COQ5","COQ8A","COX15","COX20","COX8A","CPSF3","CPT1A","CPT1C","CRB1","CRLF1","CRPPA","CRX","CSF1R","CTC1","CTDP1","CTLA4","CTNNA2","CTNNB1","CTSD","CTSF","CTSK","CWF19L1","CYB5A","CYB5R3","CYFIP2","CYP26C1","CYP27A1","CYP2U1","CYP7B1","DALRD3","DAO","DARS1","DARS2","DCC","DCTN1","DCX","DDB2","DDC","DDHD1","DDHD2","DDX3X","DEGS1","DENND5A","DHCR24","DHDDS","DHPS","DISP1","DKK1","DLAT","DLD","DLL1","DLL4","DMXL2","DNAJC19","DNAJC3","DNAJC30","DNAJC6","DNASE1L3","DNM1","DNM1L","DNMT1","DOCK6","DOCK8","DOLK","DPH5","DPM1","DPM3","DPYD","DPYS","DSTYK","DTYMK","DUSP6","DYM","DYNC1H1","DYNC1I2","EARS2","ECHS1","EDNRB","EED","EEF1A2","EEF2","EIF2AK1","EIF2AK2","EIF2B1","EIF2B2","EIF2B4","EIF2S3","EIF4H","ELN","ELOVL1","ELOVL4","ELP2","EML1","ENG","ENPP1","ENTPD1","EOGT","EPCAM","EPHA4","EPM2A","EPRS1","ERAP1","ERBB4","ERCC1","ERCC2","ERCC3","ERCC4","ERCC5","ERCC6","ERCC8","ERLIN1","ERLIN2","ETHE1","EXOC2","EXOC8","EXOSC3","EXOSC5","EXOSC8","EXOSC9","EXTL3","EZH2","FA2H","FAN1","FAR1","FARS2","FAS","FBLN1","FBXO28","FBXO7","FCSK","FDX2","FDXR","FEZF1","FGF12","FGF13","FGF17","FGF8","FGFR1","FIG4","FKBP6","FKRP","FKTN","FLNA","FLRT1","FLRT3","FOXG1","FOXH1","FOXP1","FRMD5","FRMPD4","FRRS1L","FTL","FUCA1","FUS","FXN","FZR1","GABBR2","GABRA2","GABRA3","GABRA5","GABRB2","GABRD","GABRG2","GAD1","GALC","GAMT","GAN","GAS1","GATAD2B","GBA1","GBA2","GBE1","GCDH","GCH1","GDAP2","GDF3","GDF6","GEMIN4","GFAP","GFM1","GFM2","GIPC1","GJA1","GJB1","GJC2","GLB1","GLE1","GLI2","GLRA1","GLRB","GLRX5","GLT8D1","GLYCTK","GM2A","GMPPA","GMPPB","GNAO1","GNAQ","GNB1","GON7","GOT2","GPAA1","GPHN","GPT2","GRIA2","GRIA3","GRIA4","GRID2","GRIK2","GRIN1","GRIN2B","GRIN2D","GRM1","GRM7","GRN","GSS","GSX2","GTF2E2","GTF2H5","GTF2I","GTF2IRD1","GTF2IRD2","GTPBP2","GUCY1A1","GUCY2D","GUF1","H3-3A","H4C5","HACE1","HADHA","HADHB","HCN1","HECTD4","HEPACAM","HESX1","HEXB","HID1","HIKESHI","HINT1","HLA-B","HLA-DPA1","HLA-DPB1","HLA-DQB1","HLA-DRB1","HMGCL","HNRNPA1","HNRNPA2B1","HPDL","HPRT1","HRAS","HS6ST1","HSD17B10","HSD17B4","HSPD1","HSPG2","HTRA1","HTRA2","HTT","HUWE1","HYCC1","IARS1","IBA57","IDUA","IFIH1","IFNGR1","IFT140","IKBKG","IL10","IL12A","IL12A-AS1","IL17RD","IL23R","IMPDH1","IMPDH2","INPP5E","INPP5K","INTS8","IQCB1","IRAK1","IREB2","IRF2BPL","IRF4","ISCA1","ISCA2","ITM2B","JAM2","JAM3","KANK1","KARS1","KATNB1","KCNA1","KCNA2","KCNA4","KCNAB2","KCNB1","KCNC2","KCNC3","KCNJ13","KCNJ18","KCNJ6","KCNQ2","KCNT1","KDM5C","KIDINS220","KIF11","KIF1A","KIF1C","KIF2A","KIF5A","KIF5C","KLC2","KLRC4","KMT2B","KPNA3","KRAS","KY","L1CAM","L2HGDH","LAGE3","LAMB1","LARGE1","LCA5","LETM1","LIAS","LIG3","LIMK1","LIMS2","LINGO1","LIPT1","LIPT2","LMBRD2","LMNB1","LMX1B","LRAT","LRP12","LRP4","LRPPRC","LRRK2","LSM11","LUZP1","LYRM7","LYST","MACF1","MAG","MAN2B1","MAPK8IP3","MAPT","MARS1","MARS2","MATR3","MC2R","MCCC1","MCCC2","MCEE","MCOLN1","MDH2","MECP2","MECR","MED12","MED13L","MED17","MED23","MED25","MED27","MEFV","MEOX1","METTL27","METTL5","MFF","MFN2","MFSD2A","MICOS13","MINPP1","MLC1","MLH1","MLH3","MLXIPL","MMP23B","MMUT","MOCS1","MOCS2","MORC2","MPLKIP","MPZ","MRAP","MRE11","MRM2","MRPS22","MRPS34","MSH2","MSH6","MSL3","MT-ATP6","MT-ATP8","MT-CO1","MT-CO2","MT-CO3","MT-CYB","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND5","MT-ND6","MT-TC","MT-TE","MT-TF","MT-TH","MT-TI","MT-TK","MT-TL1","MT-TP","MT-TQ","MT-TS1","MT-TS2","MT-TV","MT-TW","MTFMT","MTHFR","MTHFS","MTO1","MTOR","MTPAP","MTRFR","MTTP","MYO5A","MYORG","NAA10","NACC1","NADK2","NAGA","NAGS","NALCN","NARS2","NAXD","NAXE","NCF1","NDE1","NDNF","NDUFA13","NDUFA2","NDUFA4","NDUFA6","NDUFA8","NDUFAF4","NDUFAF5","NDUFC2","NDUFS1","NDUFS2","NDUFS3","NDUFS4","NDUFS7","NDUFV1","NDUFV2","NECAP1","NEFH","NEFL","NEK1","NEU1","NEUROD2","NEXMIF","NF1","NF2","NFASC","NFU1","NHLRC1","NHLRC2","NIPA1","NKX6-2","NMNAT1","NNT","NODAL","NOP56","NOTCH1","NOTCH2NLC","NOTCH3","NOVA2","NPC1","NPC2","NPPA","NR2F1","NR4A2","NSD1","NSRP1","NSUN2","NT5C2","NTNG1","NTNG2","NTRK2","NUBPL","NUP107","NUP133","NUP214","NUP54","NUP62","NUS1","OCLN","ODC1","OGDHL","OPA1","OPA3","OPHN1","OPTN","OSGEP","OSTM1","OTUD6B","OTX2","PACS2","PAFAH1B1","PAH","PANK2","PARK7","PARS2","PAX3","PAX6","PCDH12","PCLO","PCYT1A","PCYT2","PDCD1","PDGFB","PDGFRB","PDHX","PDPN","PDYN","PET100","PET117","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PEX7","PFN1","PGAP1","PHACTR1","PHGDH","PHYH","PI4KA","PIGA","PIGN","PIGP","PIGQ","PIGT","PIGU","PIK3CA","PIK3R5","PINK1","PLA2G6","PLAA","PLCB1","PLCH1","PLP1","PMP2","PMP22","PMPCA","PMPCB","PMS1","PMS2","PNKP","PNP","PNPLA6","PNPLA8","PNPT1","PODXL","POLA1","POLG","POLR1C","POLR3A","POLR3B","POLR3GL","POLR3K","POMGNT1","POMK","POMT1","POMT2","PON1","PON2","PON3","POU3F3","POU4F1","PPARGC1A","PPFIBP1","PPIL1","PPOX","PPP1R15B","PPP2R2B","PPP3CA","PPT1","PQBP1","PRDM13","PRDM16","PRDM8","PRF1","PRICKLE1","PRKCZ","PRKN","PRKRA","PRNP","PROK2","PROKR2","PRORP","PRPH","PRPS1","PRRT2","PRSS12","PRTN3","PRUNE1","PSAP","PSAT1","PSEN1","PSMC1","PTCH1","PTEN","PTPN22","PTPN23","PTS","PUM1","PYCR2","RAB11B","RAB18","RAB27A","RAB3GAP1","RAB3GAP2","RAD50","RALGAPA1","RANBP2","RARS1","RARS2","RASA1","RBM28","RBPJ","RD3","RDH12","REEP1","REEP2","REPS1","RERE","RETREG1","RFC1","RFC2","RFT1","RHOBTB2","RILPL1","RLIM","RNASEH1","RNASEH2A","RNASEH2B","RNASEH2C","RNASET2","RNF113A","RNF13","RNF170","RNF216","RNF220","RNU4ATAC","RNU7-1","ROGDI","RORA","RPE65","RPGRIP1","RPIA","RPS20","RPS6KA3","RRM2B","RTN2","RTTN","RUSC2","SACS","SAMD9","SAMD9L","SAMHD1","SARDH","SAT1","SATB1","SATB2","SCN1A","SCN1B","SCN2A","SCN3A","SCN4A","SCN5A","SCN8A","SCYL1","SCYL2","SDHA","SDHAF1","SDHB","SDHD","SEC31A","SELENOI","SEMA3A","SEMA4A","SEPSECS","SERAC1","SETBP1","SETX","SHH","SHMT2","SHQ1","SIGMAR1","SIK1","SIL1","SIX3","SIX6","SKI","SLC12A2","SLC12A5","SLC12A6","SLC13A5","SLC16A2","SLC17A5","SLC18A2","SLC19A3","SLC1A2","SLC1A3","SLC1A4","SLC20A2","SLC25A10","SLC25A12","SLC25A15","SLC25A22","SLC25A46","SLC2A1","SLC2A3","SLC30A10","SLC32A1","SLC33A1","SLC35A2","SLC38A3","SLC39A14","SLC44A1","SLC5A6","SLC6A1","SLC6A3","SLC6A5","SLC6A8","SLC9A7","SLITRK2","SMARCAL1","SMARCB1","SMARCE1","SMC1A","SMO","SMPD1","SNCA","SNORD118","SNX14","SOD1","SON","SOX10","SOX2","SOX3","SOX4","SP110","SPART","SPAST","SPATA5","SPATA5L1","SPATA7","SPEN","SPG11","SPG21","SPG7","SPOP","SPP1","SPR","SPRY4","SPTAN1","SPTBN1","SPTBN2","SPTLC1","SQSTM1","SRD5A3","SRPX2","STAG2","STAMBP","STAR","STAT4","STIL","STN1","STUB1","STX1A","STXBP1","SUCLA2","SUFU","SUMF1","SUOX","SUZ12","SVBP","SYNE1","SYNGAP1","SYNJ1","SZT2","TACO1","TACR3","TAF1","TAF15","TAF2","TAF8","TANGO2","TARDBP","TARS1","TBC1D20","TBC1D23","TBC1D24","TBCD","TBCE","TBK1","TBL2","TBP","TBX1","TCEAL1","TCF20","TCTN2","TDGF1","TDP1","TECPR2","TELO2","TERT","TFG","TGFB1","TGFBR2","TGFBR3","TGIF1","TGM6","TH","THG1L","THOC2","THSD1","TIMM50","TIMM8A","TLR3","TLR4","TMEM106B","TMEM222","TMEM231","TMEM270","TMEM63A","TMEM63C","TMEM67","TMTC3","TMX2","TNFRSF11A","TNR","TOE1","TOR1A","TP53","TP53RK","TPI1","TPK1","TPP1","TPP2","TPRKB","TRAF7","TRAK1","TRAPPC12","TRAPPC2L","TRAPPC4","TREM2","TREX1","TRIM8","TRIT1","TRMT10A","TRMT5","TSC1","TSC2","TSEN15","TSEN2","TSEN34","TSEN54","TSPOAP1","TTBK2","TTC19","TTC26","TTPA","TTR","TUBA1A","TUBB2B","TUBB3","TUBB4A","TUBB4B","TUBG1","TUBGCP2","TUFM","TULP1","TWNK","TXN2","TXNRD2","TYROBP","UBA5","UBAC2","UBAP1","UBE4A","UBE4B","UBQLN2","UBTF","UCHL1","UFC1","UFM1","UGDH","UGP2","UNC13A","UNC80","USP45","USP8","VAMP1","VAPB","VCP","VPS11","VPS13C","VPS13D","VPS37A","VPS37D","VPS41","VPS4A","VPS50","VPS53","VRK1","VWA3B","WARS1","WARS2","WASHC4","WASHC5","WDR11","WDR26","WDR4","WDR45","WDR45B","WDR48","WDR62","WDR73","WLS","WT1","WWOX","XPA","XPC","YIF1B","YRDC","YWHAG","ZBTB11","ZC4H2","ZEB2","ZFR","ZFYVE26","ZFYVE27","ZIC2","ZNF335","ZNF592","ZNF668","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_RAPID_EYE_MOVEMENT_SLEEP":{"collection":"C5:HPO","systematicName":"M35860","pmid":"","exactSource":"HP:0002494","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002494","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RAPID_EYE_MOVEMENT_SLEEP","geneSymbols":["COQ2","CTSH","DNMT1","HCRT","HLA-DQB1","HLA-DRB1","MAGEL2","MEN1","MOG","P2RY11","RFC1","SIM1","TNFSF4","YY1","ZNF365"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_IMPAIRED_VIBRATORY_SENSATION":{"collection":"C5:HPO","systematicName":"M47061","pmid":"","exactSource":"HP:0002495","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002495","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRED_VIBRATORY_SENSATION","geneSymbols":["ABCD1","ALDH18A1","AMPD2","APTX","ARSI","ATL1","ATP13A2","ATP1A1","ATXN1","ATXN2","ATXN3","ATXN8OS","B4GALNT1","BEAN1","BSCL2","CACNA1G","CADM3","CHCHD10","CHP1","CPT1C","CYP7B1","DARS2","DCAF8","DDHD1","DHH","DHTKD1","EGR2","ERBB3","ERLIN2","FAR1","FGF14","FLRT1","FLVCR1","FMR1","FXN","GARS1","GBA2","GCH1","GDAP1","GNB4","HARS1","HAX1","HINT1","HK1","HSPD1","IMPDH2","JAG1","KCNC3","KCND3","KIF1A","KIF5A","KLC2","KLHL9","KPNA3","LMNB1","LRSAM1","MAG","MFN2","MORC2","MPZ","MT-ATP6","MT-TE","MTRFR","MTTP","NAGLU","NDRG1","NEFH","NEFL","NGF","NIPA1","NOP56","NR4A2","PDK3","PDXK","PDYN","PEX10","PEX6","PI4KA","PLEKHG4","PLOD1","PMP2","PMP22","PNKP","PNPT1","POLG","POLR3A","POLR3B","PRDM12","PRKCG","PRORP","PRX","REEP1","REEP2","RNF170","RTN2","SACS","SAMD9L","SAR1B","SCO2","SCP2","SETX","SH3TC2","SLC12A6","SLC25A15","SLC33A1","SORD","SPART","SPAST","SPG11","SPG7","SPTBN2","SPTLC2","SYNE1","TDP1","TPP1","TWNK","UBAP1","UCHL1","VAMP1","VCP","VPS13A","VPS37A","WASHC5","WDR48","XK","XRCC1","ZFYVE26"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SPASTIC_ATAXIA":{"collection":"C5:HPO","systematicName":"M35862","pmid":"","exactSource":"HP:0002497","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002497","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPASTIC_ATAXIA","geneSymbols":["AFG3L2","ATP5F1A","CACNA1G","DARS2","GDAP2","GLRX5","HTRA1","KIF1C","LRP4","MARS2","MMADHC","MTPAP","PRDM8","SACS","SPG7","TANC2","TBCE","TUBB3","VAMP1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SPINOCEREBELLAR_TRACT_DEGENERATION":{"collection":"C5:HPO","systematicName":"M35863","pmid":"","exactSource":"HP:0002503","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002503","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPINOCEREBELLAR_TRACT_DEGENERATION","geneSymbols":["ATXN1","ATXN2","ATXN3","GCLC","GJB1","MAN2B1","PLP1","PRKAR1B","REPS1","TDP1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LOSS_OF_AMBULATION":{"collection":"C5:HPO","systematicName":"M35864","pmid":"","exactSource":"HP:0002505","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002505","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOSS_OF_AMBULATION","geneSymbols":["ACTB","ADAM22","ADAR","ALDH18A1","ALS2","AP4S1","APTX","BVES","C19orf12","CACNA1A","CDKL5","CHRND","CLN3","CLN5","CLN8","COQ2","CRAT","CRPPA","DARS2","DES","DMD","DNAJB6","DNAJC6","DSTYK","DYSF","EIF2B3","EIF2B5","EMD","EPRS1","ERBB4","EXT2","FA2H","FARS2","FHL1","FKRP","FOXRED1","GABBR2","GALC","GDAP1","GFM2","GGPS1","GIPC1","GLRX5","GMPPB","GOSR2","HINT1","HK1","HNRNPA1","HSD17B10","HYCC1","IRF2BPL","JAG2","KLHL9","LARGE1","LDB3","LETM1","LMNA","LRP12","LRP5","LYRM7","MAG","MAPT","MARS2","MCM3AP","MECP2","MECR","MPV17","MT-ATP6","MYH7","MYOT","NDUFA6","NEU1","NOTCH2NLC","NTNG1","NUP54","NUP62","OPTN","PEX1","PEX16","PLA2G6","PLEC","PLP1","POLR3A","POLR3B","POMT1","POMT2","PRX","PSAP","REPS1","RILPL1","RNASEH1","RRM2B","SAMD9L","SBF1","SDHA","SDHAF1","SDHB","SDHD","SELENON","SGCB","SGCG","SIGMAR1","SLC39A14","SLC9A6","SMC1A","SMN1","SMN2","SNCA","SPTLC1","SUCLA2","TFG","TGM6","TK2","TRIM32","TWNK","UCHL1","VAC14","VAPB","VCP","VPS13A","VPS16"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DIFFUSE_CEREBRAL_ATROPHY":{"collection":"C5:HPO","systematicName":"M35865","pmid":"","exactSource":"HP:0002506","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002506","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DIFFUSE_CEREBRAL_ATROPHY","geneSymbols":["ARX","ATP13A2","ATP6AP2","BTD","CARS2","CASK","CDKL5","COG2","COG5","COQ2","CTSF","DCDC2","DHCR7","DMXL2","DNM1","DNM1L","ERCC6","FARS2","FDXR","FMR1","GALC","GLB1","GNAO1","GRIN1","GRIN2A","GRM7","HSD17B10","HTRA1","KARS1","KCNA1","MED17","MOCS2","NEUROD2","PIGP","PIGQ","PMPCA","PNKP","PRKAR1B","PSAP","RARS1","SCN1B","SCN2A","SIK1","SLC25A22","SLC32A1","TBC1D24","TBCD","TBP","TIAM1","TMEM67","TRIM8","UQCRC1","VPS16","WARS2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SEMILOBAR_HOLOPROSENCEPHALY":{"collection":"C5:HPO","systematicName":"M41260","pmid":"","exactSource":"HP:0002507","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002507","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEMILOBAR_HOLOPROSENCEPHALY","geneSymbols":["CNOT1","FGFR1","PTCH1","SEC31A","SIX3","SMC1A","STAG2","TGIF1","ZIC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LIMB_HYPERTONIA":{"collection":"C5:HPO","systematicName":"M35866","pmid":"","exactSource":"HP:0002509","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002509","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIMB_HYPERTONIA","geneSymbols":["AARS1","ACTL6B","ADCY5","ADGRG1","AFG3L2","ALDH18A1","ALG11","AP3B2","AP4M1","ARSI","ARV1","ASNS","ASXL1","ASXL2","ATL1","ATP1A2","ATP1A3","ATP6V1A","ATRX","BRAT1","BRF1","CACNA1A","CACNA1B","CACNA1G","CACNA2D1","CAMSAP1","CDC42BPB","CDK19","CELF2","CLDN11","CLP1","CLTC","CNKSR2","COG4","CYFIP2","DALRD3","DDC","DHDDS","DHPS","DNAJC12","DNAJC6","DNM1","DOCK6","DPH5","EBP","EEF1A2","ELOVL4","EMC1","ERCC1","ERCC6","ERCC8","FA2H","FAR1","FBXO28","FGF12","FGF13","FRMD4A","FZR1","GABBR2","GABRA2","GABRA5","GABRB2","GABRG2","GCH1","GDAP2","GFM2","GNB1","GPHN","GRIK2","GRIN2D","GRM7","H4C5","HCN1","HK1","IFIH1","KAT6A","KATNB1","KCNA2","KCNB1","KDM1A","KDM5C","KIDINS220","KIF5A","KIFBP","LBR","MED11","MINPP1","MTPAP","MTRR","NCAPD3","NDUFA9","NDUFC2","NECAP1","NTRK2","NUS1","OSTM1","PACS2","PARS2","PCCA","PCCB","PI4KA","PIGA","PIGP","PLAA","PNPT1","POLR3A","PPP3CA","PRDM13","PRPS1","PTS","PYCR2","RARS1","RHOBTB2","RNU7-1","SCN3A","SCN8A","SDHA","SDHAF1","SDHB","SDHD","SEPSECS","SLC13A5","SLC16A2","SLC1A2","SLC25A19","SLC30A9","SLC31A1","SLC33A1","SLC35C1","SLC38A3","SLC39A14","SLC6A3","SMG9","SPATA5","SPG7","SPR","SRPX2","SYNGAP1","SYNJ1","SZT2","TARS2","TRAK1","TSEN15","TSEN2","TSEN34","TSEN54","UBA5","UBTF","UFC1","UFSP2","USP8","VPS37A","WARS2","WDR48","WWOX","YWHAG"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SPASTIC_TETRAPLEGIA":{"collection":"C5:HPO","systematicName":"M35867","pmid":"","exactSource":"HP:0002510","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002510","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPASTIC_TETRAPLEGIA","geneSymbols":["ADAR","ADD3","ADGRG1","ALS2","ANKLE2","AP4E1","AP4M1","APC2","ARSA","ARX","ASNS","ATP13A2","ATP6V0A1","AUH","BCL11B","CACNA1D","CACNA1E","CDC40","CLIC2","CLN8","CNP","CNPY3","COASY","COG2","COL4A2","COLGALT1","CSF1R","CTNNA2","CYB5A","CYB5R3","DEGS1","DENND5A","DPH5","DTYMK","DYNC1H1","ELOVL4","EXOC2","FUCA1","GLB1","GLYCTK","GOT2","GRIA4","GRIN1","GSX2","H4C5","HSD17B10","IBA57","IFIH1","KANK1","KARS1","KCNC2","KIF2A","KIF5C","LIAS","LSM11","MCOLN1","MECP2","MINPP1","MOCS1","MOCS2","MRPS22","MTFMT","NALCN","NAXD","NDE1","NDUFAF4","NDUFAF5","OSTM1","OTUD6B","PCDH12","PDHX","PET100","PHGDH","PI4KA","PLA2G6","PPFIBP1","PPIL1","PRDM13","PRDM8","PSMC1","RAB18","RANBP2","RNASEH2A","RNASEH2B","RNASEH2C","RNU7-1","SAMHD1","SCN2A","SCN3A","SDHAF1","SEC31A","SEPSECS","SHMT2","SHQ1","SIX6","SLC16A2","SLC19A3","SLC1A4","SOX10","SOX2","SPATA5L1","SPTAN1","SPTBN1","SRPX2","STXBP1","SYNJ1","TANGO2","TBC1D20","TBCE","TMX2","TREX1","TUBA1A","TUBB3","TUBG1","UNC80","VPS53","WARS2","WDR45B","WDR73","YIF1B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ALZHEIMER_DISEASE":{"collection":"C5:HPO","systematicName":"M35868","pmid":"","exactSource":"HP:0002511","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002511","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ALZHEIMER_DISEASE","geneSymbols":["ABCA7","APOE","APP","CACNA1G","GATA1","MPO","NOS3","PLAU","PSEN1","PSEN2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BRAIN_STEM_COMPRESSION":{"collection":"C5:HPO","systematicName":"M35869","pmid":"","exactSource":"HP:0002512","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002512","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BRAIN_STEM_COMPRESSION","geneSymbols":["AKT1","BAP1","DKK1","FGFR3","NF2","PDGFB","PIK3CA","SMARCB1","SMARCE1","SMO","SUFU","TERT","TNFRSF11A","TRAF7"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_WADDLING_GAIT":{"collection":"C5:HPO","systematicName":"M35871","pmid":"","exactSource":"HP:0002515","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002515","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WADDLING_GAIT","geneSymbols":["ACAN","ACBD5","ACTA1","AGRN","ALG14","ALG2","ALPL","ANO5","AP4B1","AP4E1","AP4M1","AP4S1","ASAH1","BGN","BICD2","BIN1","CANT1","CCN6","CFL2","CHAT","CHKB","CHST3","COL10A1","COL12A1","COL13A1","COL2A1","COL6A1","COL6A2","COL6A3","COL9A1","COL9A2","COL9A3","COLQ","COMP","DAG1","DEAF1","DMD","DNAJB6","DOK7","DPAGT1","DPM3","DSTYK","DYM","DYNC1H1","EMD","FDX2","FGD4","FHL1","FKBP14","FKRP","FLNC","FN1","GALNS","GFPT1","GMPPB","HACD1","HACE1","HNRNPA1","HNRNPA2B1","HSPG2","IDH1","IFIH1","KBTBD13","KLHL41","LAMA2","LAMB2","LMNA","LMOD3","LRP5","LTBP4","MAP3K20","MATN3","MBTPS1","MMP13","MORC2","MYH2","MYH7","MYO9A","MYPN","NEB","NEFH","NEFL","NOG","PLEKHG5","POC1A","POGZ","POMT1","PREPL","PTH1R","RYR1","SCN4A","SELENON","SGCA","SGCB","SGCG","SLC18A3","SLC25A1","SLC26A2","SLC34A1","SLC34A3","SLC39A13","SLC5A7","SLC6A17","SMARCAL1","SMN1","SNAP25","SPEG","SPG7","SYNE1","SYNE2","SYT2","TGFB1","TMEM43","TNNC2","TNNT1","TPM2","TPM3","TRAPPC10","TRAPPC11","TRIM32","TRPV4","TTN","UFSP2","VAMP1","VAPB","VCP","YY1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INCREASED_INTRACRANIAL_PRESSURE":{"collection":"C5:HPO","systematicName":"M35872","pmid":"","exactSource":"HP:0002516","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002516","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_INTRACRANIAL_PRESSURE","geneSymbols":["AKT1","ALX4","ANTXR1","APC","BAP1","BMPR1A","BRAF","C4A","CASR","CCM2","CCND1","CCR1","CSPP1","CTNNB1","CTSK","DKK1","ELMO2","EPCAM","ERAP1","ERF","FAN1","FAS","FGFR2","FGFR3","GALC","GALK1","GNA11","HLA-B","IFNGR1","IFT172","IL10","IL12A","IL12A-AS1","IL23R","IRF4","KIAA0586","KLLN","KLRC4","KRAS","KRIT1","L1CAM","LRP5","MEFV","MLH1","MLH3","MSH2","MSH6","NF2","NLRP3","PDCD10","PDE4D","PDGFB","PIK3CA","PMS1","PMS2","PRF1","PSAP","PTEN","RPS20","SDHB","SDHC","SDHD","SEC23B","SEMA4A","SMARCB1","SMARCE1","SMO","SNORD118","SOST","STAT4","SUFU","TCF12","TERT","TGFBR2","TLR4","TRAF7","TWIST1","UBAC2","USF3","VHL","ZIC1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_PERIVENTRICULAR_WHITE_MATTER_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M35873","pmid":"","exactSource":"HP:0002518","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002518","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PERIVENTRICULAR_WHITE_MATTER_MORPHOLOGY","geneSymbols":["AARS1","AARS2","ABCC9","ABCD1","ABHD16A","ACP5","ACTA2","ACTL6B","ALDH18A1","AMPD2","AP4B1","AP4E1","AP4M1","AP4S1","AP5Z1","ARHGAP31","ARID2","ARSA","ATP13A2","BRF1","CA2","CARS1","CDC42","CDK13","CLCN4","CLN5","CLPB","CNBP","CNKSR2","CNP","CNTNAP2","COL4A1","CPLX1","CTBP1","CYP27A1","DDHD2","DEGS1","DLL4","DNM1L","DOCK6","DPM2","DPM3","EDEM3","EOGT","ERCC2","ERCC3","FA2H","FARSA","FCSK","FGFRL1","FKRP","GALC","GFAP","GM2A","GMPPB","GNB2","GTF2E2","GTF2H5","HIKESHI","HK1","ISCA2","KCNN2","LAMA1","LARGE1","LETM1","LIPT2","LMX1B","LONP1","LYRM7","MEF2C","MMACHC","MORC2","MPLKIP","MTHFR","NDUFC2","NEUROD2","NOTCH1","NRCAM","NRROS","NSD2","OCRL","ODC1","OGDHL","OPA1","PAK1","PC","PDHA1","PDHB","PDHX","POMT1","POMT2","PPFIBP1","PRORP","PRR12","PSAP","PUF60","RAB3GAP2","RAC1","RBPJ","RFWD3","RNF113A","RPL10","RTTN","SELENOI","SEPSECS","SHANK3","SON","SPATA5L1","SPG11","SPG21","SSR4","STRADA","STXBP1","SUGCT","SUMF1","TARS1","TBCK","TET3","TMEM222","TPRKB","TREX1","TRMT1","TRPM3","TSEN54","UBA1","UQCC3","USP7","VPS11","WARS2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPSARRHYTHMIA":{"collection":"C5:HPO","systematicName":"M35874","pmid":"","exactSource":"HP:0002521","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002521","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPSARRHYTHMIA","geneSymbols":["AARS1","ABCC8","ACTL6B","AIMP2","ALDH7A1","ALG13","ALG14","ALG2","ALG3","AP3B2","APC2","ARFGEF1","ARFGEF2","ARV1","ARX","ASNS","ASPA","ATAD1","ATN1","ATP1A2","ATP1A3","ATP6V0A1","ATP6V1A","ATP7A","CACNA1A","CACNA1B","CACNA1E","CACNA2D1","CAMSAP1","CASK","CCDC88A","CDK19","CDKL5","CELF2","CLTC","CNKSR2","CNPY3","COX4I1","CTNNA2","CUL3","CUX2","CYFIP2","D2HGDH","DALRD3","DCX","DEPDC5","DHDDS","DMXL2","DNM1","DOCK7","DOLK","DPAGT1","EEF1A2","EPM2A","ERMARD","EXOC8","FBXO28","FGF12","FGF13","FZR1","GABBR2","GABRA2","GABRA5","GABRB1","GABRB2","GABRB3","GABRG2","GAD1","GFM2","GLYCTK","GNAO1","GNB1","GNB5","GOLGA2","GRIN1","GRIN2B","GRIN2D","GRM7","GUF1","HCFC1","HCN1","HIBCH","HID1","HMGCL","IARS2","IER3IP1","KCNA1","KCNA2","KCNB1","KCNC2","KCNJ11","KCNQ2","KCNT1","KCNT2","KIF1A","LONP1","MDH1","MED17","MFF","MGAT2","MPDU1","MT-TL1","NACC1","NARS2","NAXD","NDUFAF8","NECAP1","NEDD4L","NEUROD2","NEXMIF","NF1","NHLRC1","NPRL2","NPRL3","NTRK2","NUS1","OGDHL","PACS2","PAFAH1B1","PARS2","PCDH12","PDHA1","PHACTR1","PHGDH","PIGA","PIGP","PIGQ","PIGW","PLAA","PLCB1","PLPBP","PNKP","PPFIBP1","PPP3CA","PTPN23","PTS","ROGDI","RUSC2","SATB1","SCN1A","SCN1B","SCN2A","SCN3A","SCN8A","SETBP1","SIK1","SLC12A5","SLC13A5","SLC1A2","SLC1A4","SLC25A22","SLC32A1","SLC35A2","SLC38A3","SLC39A8","SMC1A","SPATA5","SPTAN1","SPTBN1","ST3GAL3","STXBP1","SYNGAP1","SYNJ1","SZT2","TBC1D24","TBL1XR1","TGFB1","TIMM50","TRAK1","TRAPPC12","TRIM8","TUBB2A","UBA5","UFC1","UGDH","UPB1","WDR45","WWOX","YWHAG","ZNF526","ZNHIT3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_AREFLEXIA_OF_LOWER_LIMBS":{"collection":"C5:HPO","systematicName":"M35875","pmid":"","exactSource":"HP:0002522","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002522","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AREFLEXIA_OF_LOWER_LIMBS","geneSymbols":["AARS1","ACOX1","ALDH18A1","ARL6IP1","ATP6AP2","ATXN3","BIN1","CADM3","CCDC47","COASY","CRYAB","DES","DNAJC3","DNM2","DYSF","ERLIN1","FAM111B","FBLN5","FXN","GAN","GBE1","GJB1","GLE1","GNB4","GNE","HARS1","HINT1","HSPB1","HSPB3","HSPB8","IGHMBP2","IL6ST","ITPR3","JAG1","KIF1A","KLC2","KLHL9","LIFR","MAG","MCM3AP","MFN2","MORC2","MRE11","MTMR14","MYF6","MYH14","NEFL","OPA1","OPA3","ORAI1","PDK3","PEX10","PGM3","PLEKHG4","PMP2","PMP22","PNPT1","POLG","POLG2","PRPS1","PSMC1","RAB7A","RAI1","REEP1","RNASEH1","RRM2B","RYR1","SACS","SBF2","SIGMAR1","SLC25A4","SLC5A6","SLC9A1","SMN1","SMN2","SPG11","SQSTM1","STIM1","TCAP","TOR1A","TWNK","TYMP","VCP","VPS13A","WARS1","XK"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CATAPLEXY":{"collection":"C5:HPO","systematicName":"M35876","pmid":"","exactSource":"HP:0002524","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002524","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CATAPLEXY","geneSymbols":["CTSH","DNMT1","HCRT","HLA-DQB1","HLA-DRB1","MOG","NPC1","NPC2","P2RY11","TBCD","TNFSF4","ZNF365"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FALLS":{"collection":"C5:HPO","systematicName":"M35877","pmid":"","exactSource":"HP:0002527","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002527","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FALLS","geneSymbols":["ACBD5","ALDH18A1","ATP13A2","ATP6AP2","CACNA1A","CERS1","CHD2","CUX2","DAB1","DMD","DNA2","DNM1","FA2H","FAR1","FXN","GABRB3","GAN","GNB2","LRAT","MAPK10","MAPT","MYH7","NDUFS8","NEFL","NKX2-1","OGDH","ORAI1","PDE2A","POPDC3","PRKAR1B","PTS","RAPSN","SACS","SCN1A","SDHB","SET","SLC25A21","SPTBN1","TTN","VPS13A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NEURONAL_LOSS_IN_CENTRAL_NERVOUS_SYSTEM":{"collection":"C5:HPO","systematicName":"M35878","pmid":"","exactSource":"HP:0002529","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002529","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEURONAL_LOSS_IN_CENTRAL_NERVOUS_SYSTEM","geneSymbols":["ADH1C","ATXN2","ATXN8OS","BRAT1","BSCL2","C9orf72","CHMP2B","CSF1R","CTSD","CTSF","DNMT1","FIG4","FUS","GBA1","GLUD2","GRN","HTT","KCNT1","MAPT","MT-TT","NARS2","NPC1","NR4A2","PDYN","PIGA","PLA2G6","POLG","PRNP","PSAP","PSEN1","SCO2","SERPINI1","SLC9A6","SNCAIP","TBCD","TBP","VAC14","VAPB","ZNHIT3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_AXIAL_DYSTONIA":{"collection":"C5:HPO","systematicName":"M35879","pmid":"","exactSource":"HP:0002530","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002530","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AXIAL_DYSTONIA","geneSymbols":["ALS2","CIZ1","COL6A3","COQ2","EIF2AK2","FUS","GNAL","HPDL","MAPT","MECR","NDUFS3","PLA2G6","PPP2R2B","SIGMAR1","SPG11","SPTLC1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_POSTURING":{"collection":"C5:HPO","systematicName":"M35880","pmid":"","exactSource":"HP:0002533","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002533","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_POSTURING","geneSymbols":["ABCD4","AOPEP","EPG5","PANK2","PRNP","TIMM8A","TOR1A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CORTICAL_GYRATION":{"collection":"C5:HPO","systematicName":"M43274","pmid":"","exactSource":"HP:0002536","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002536","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CORTICAL_GYRATION","geneSymbols":["ACTB","ACTG1","ADAMTS3","ADGRG1","AHDC1","AHI1","AKT3","ALG12","ANKLE2","APC2","ARHGAP31","ARHGEF9","ARID1A","ARID1B","ARID2","ARL13B","ARL3","ARMC9","ARX","ASCC1","ASNS","ASPM","ATN1","ATP1A2","ATP1A3","ATP6V0A2","ATP6V1A","ATP6V1B2","ATP6V1E1","ATR","ATXN2","B3GALNT2","B4GAT1","B9D1","B9D2","BICD2","BLTP1","BMPER","C2CD3","CAMSAP1","CAMTA1","CASK","CBY1","CCBE1","CCDC88A","CCND2","CDC40","CDK5","CDK5RAP2","CDK6","CDKL5","CDON","CENPE","CENPJ","CEP104","CEP120","CEP135","CEP152","CEP41","CEP63","CEP85L","CILK1","CIT","CLP1","COG6","COL18A1","COL25A1","COL3A1","COL4A1","COL4A2","COPB2","CPLANE1","CPT2","CRADD","CRPPA","CSNK2A1","CSPP1","CTNNA2","CTU2","CUL4B","DAG1","DCHS1","DCX","DEPDC5","DHCR24","DHX37","DISC1","DISP1","DLK1","DLL1","DMXL2","DOCK6","DONSON","DPF2","DYNC1H1","DYNC1I2","EIF2AK2","EML1","EOMES","ERCC1","ERMARD","ETFA","ETFB","ETFDH","EXOC7","EXOSC5","FAT4","FBXO28","FDFT1","FGF8","FH","FIG4","FKRP","FKTN","FLI1","FLVCR2","FOXG1","FOXH1","FRAS1","FRMD5","FTO","GAS1","GFM2","GLI2","GLS","GMNN","GMPPB","GNAO1","GNB1","GON7","GPHN","GPSM2","GPX4","GRIN1","GRM7","HIC1","HSD17B4","HYLS1","IBA57","IER3IP1","IFT74","INPP5E","ISCA1","KAT5","KAT6B","KATNB1","KATNIP","KCNA1","KIAA0586","KIAA0753","KIF11","KIF14","KIF21A","KIF26A","KIF2A","KIF5C","KIFBP","KLHL15","KNL1","LAGE3","LAMA2","LAMB1","LAMC3","LARGE1","LIPT2","LMNB1","LMNB2","LONP1","LRPPRC","MACF1","MAGEL2","MAN2C1","MAP1B","MAPK8IP3","MAST1","MBOAT7","MCM7","MCPH1","MECP2","MED11","MED27","MEG3","METTL5","MFSD2A","MICU1","MKS1","MLYCD","MN1","MPDZ","MTOR","NANS","NARS1","NCAPD3","NDE1","NDN","NDUFA6","NEDD4L","NEK1","NEUROD2","NFIX","NODAL","NPHP1","NPRL2","NPRL3","NSDHL","NSRP1","NUP107","NUP133","NUP37","OCA2","OCLN","ODC1","OFD1","OSGEP","PAFAH1B1","PAX6","PDCD6IP","PDE6D","PDHA1","PDHB","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PHC1","PHGDH","PHOX2A","PI4KA","PIBF1","PIDD1","PIGB","PIGP","PIGQ","PIK3CA","PIK3R2","PLAA","PLK4","PLP1","PNKP","POLR3A","POMGNT1","POMGNT2","POMK","POMT1","POMT2","POU4F1","PPFIBP1","PPIL1","PPP1R12A","PRKDC","PSAT1","PTCH1","PTEN","PYCR2","QARS1","RAB18","RAB3GAP1","RAB3GAP2","RAC1","RECQL4","RELN","RMND1","RNU12","RNU4ATAC","ROBO1","RPGRIP1L","RTL1","RTTN","RXYLT1","SARS1","SASS6","SCN1B","SCN2A","SCN3A","SEPSECS","SF3B4","SHH","SHMT2","SIK1","SIN3A","SIX3","SLC25A19","SLC25A22","SLC30A9","SLC32A1","SLC5A6","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SMO","SMPD4","SNAP29","SNRPN","SON","SOX11","SOX4","SPOP","SRD5A3","SRPX2","STAMBP","STIL","STS","SUFU","SUZ12","TAF13","TBC1D20","TBC1D24","TBL1XR1","TBR1","TCTN1","TCTN2","TCTN3","TDGF1","TGIF1","TMEM218","TMEM222","TMEM237","TMEM67","TMTC3","TMX2","TOGARAM1","TP53RK","TP73","TPRKB","TRAIP","TRAPPC10","TRAPPC12","TRAPPC14","TRIM8","TRMT10C","TRRAP","TSEN15","TSEN2","TSEN34","TSEN54","TTC5","TUBA1A","TUBA8","TUBB","TUBB2A","TUBB2B","TUBB3","TUBG1","TUBGCP2","TUBGCP6","TUFM","USP18","USP9X","VAC14","VIPAS39","VLDLR","VPS33B","VPS4A","WARS1","WDR26","WDR4","WDR62","WDR73","WT1","WWOX","XRCC4","YRDC","YWHAE","ZEB2","ZIC2","ZNF335","ZNF526","ZNHIT3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CEREBRAL_CORTEX_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M35881","pmid":"","exactSource":"HP:0002538","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002538","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CEREBRAL_CORTEX_MORPHOLOGY","geneSymbols":["AARS1","ABCA7","ABCC6","ACD","ACO2","ACP5","ACTB","ACTG1","ACVR1","ACY1","ADAMTS3","ADAR","ADARB1","ADGRG1","ADGRV1","AGTPBP1","AHDC1","AHI1","AIRE","AKT3","ALDH18A1","ALG12","ALG8","ALS2","AMER1","AMPD2","ANKLE2","AP1S2","AP4B1","AP4E1","AP4M1","AP4S1","APC2","APOE","APP","ARHGAP31","ARHGEF9","ARID1A","ARID1B","ARID2","ARL13B","ARL3","ARMC9","ARX","ASCC1","ASNS","ASPM","ATN1","ATP13A2","ATP1A2","ATP1A3","ATP5F1A","ATP5F1D","ATP5F1E","ATP5MK","ATP6V0A1","ATP6V0A2","ATP6V1A","ATP6V1B2","ATP6V1E1","ATP7A","ATP8A2","ATPAF1","ATPAF2","ATR","ATRX","ATXN2","B3GALNT2","B3GLCT","B4GALNT1","B4GAT1","B9D1","B9D2","BAZ1B","BCAP31","BCL7B","BICD2","BICRA","BLTP1","BMP4","BMPER","BRAF","BRD4","BUB1","BUD23","C2CD3","CA2","CACNA1A","CACNA1E","CAMSAP1","CAMTA1","CARS1","CARS2","CASK","CASR","CASZ1","CBY1","CCBE1","CCDC88A","CCND2","CDC40","CDC42","CDH23","CDK13","CDK5","CDK5RAP2","CDK6","CDKL5","CDON","CENPE","CENPJ","CEP104","CEP120","CEP135","CEP152","CEP41","CEP63","CEP85L","CHCHD10","CHMP2B","CIB2","CILK1","CISD2","CIT","CIZ1","CLCN4","CLCNKB","CLIP2","CLN5","CLP1","CNKSR2","CNNM2","CNTNAP2","COG1","COG6","COL11A1","COL18A1","COL25A1","COL2A1","COL3A1","COL4A1","COL4A2","COLGALT1","COPB2","CPA6","CPLANE1","CPLX1","CPT2","CRADD","CRPPA","CSF1R","CSNK2A1","CSPP1","CTC1","CTDP1","CTNNA2","CTNNB1","CTNS","CTSC","CTSF","CTU2","CUL4B","CWC27","CYB5A","CYB5R3","CYP2U1","DAG1","DCHS1","DCX","DDB2","DDR2","DDX3X","DENND5A","DEPDC5","DGUOK","DHCR24","DHCR7","DHX37","DISC1","DISP1","DKC1","DLK1","DLL1","DMXL2","DNAJC13","DNAJC30","DNM1L","DOCK6","DOCK7","DONSON","DPAGT1","DPF2","DPM1","DYNC1H1","DYNC1I2","DYRK1A","ECM1","EHMT1","EIF2AK2","EIF2B4","EIF4G1","EIF4H","ELN","ELOVL4","EML1","EMX2","ENPP1","EOMES","EPG5","ERCC1","ERCC2","ERCC3","ERCC4","ERCC5","ERCC6","ERCC8","ERMARD","ESPN","ETFA","ETFB","ETFDH","EXOC7","EXOSC2","EXOSC3","EXOSC5","EXOSC8","EXOSC9","FA2H","FAM111A","FAM20C","FARS2","FARSB","FAT4","FBLN1","FBXO28","FDFT1","FDXR","FGF8","FGFR1","FGFR3","FH","FIG4","FKBP6","FKRP","FKTN","FLI1","FLVCR2","FMR1","FOXG1","FOXH1","FRAS1","FRMD5","FRMPD4","FTO","FUS","GABRA5","GABRD","GABRG2","GAS1","GATA3","GBA1","GBA2","GCDH","GDAP2","GET4","GFM2","GIGYF2","GJA1","GLI2","GLS","GLYCTK","GMNN","GMPPB","GNA11","GNAO1","GNAQ","GNAS","GNB1","GNPTAB","GOLGA2","GON7","GPHN","GPKOW","GPSM2","GPX4","GRIA3","GRIA4","GRIN1","GRM7","GRN","GTF2E2","GTF2H5","GTF2I","GTF2IRD1","GTF2IRD2","GUF1","H3-3A","HCN1","HDAC8","HERC1","HEXB","HIC1","HIVEP2","HLA-DQA1","HLA-DQB1","HNF1B","HRAS","HSD17B10","HSD17B4","HSPG2","HYLS1","IARS2","IBA57","IER3IP1","IFIH1","IFNG","IFT74","IKBKG","INPP5E","IRF8","ISCA1","ISG15","JAM2","JPH3","KARS1","KAT5","KAT6B","KATNB1","KATNIP","KCNA1","KCNAB2","KCNT1","KDM6A","KIAA0586","KIAA0753","KIF11","KIF14","KIF1A","KIF21A","KIF26A","KIF2A","KIF5C","KIFBP","KL","KLHL15","KMT2D","KNL1","KRAS","KRIT1","LAGE3","LAMA2","LAMB1","LAMC3","LARGE1","LIMK1","LIPT2","LMNB1","LMNB2","LONP1","LRPPRC","LRRK2","LSM11","LUZP1","MACF1","MAF","MAGEL2","MAN2B1","MAN2C1","MAP1B","MAP2K1","MAP2K2","MAPK8IP3","MAPT","MARS2","MAST1","MBD5","MBOAT7","MBTPS2","MCM7","MCPH1","MDH2","MECP2","MED11","MED27","MEF2C","MEG3","METTL27","METTL5","MFSD2A","MGP","MICU1","MINPP1","MKS1","MLXIPL","MLYCD","MMACHC","MMADHC","MMP23B","MN1","MPDZ","MPLKIP","MT-ATP6","MT-ATP8","MT-CO1","MT-CO2","MT-CO3","MT-ND1","MT-ND4","MT-ND5","MT-ND6","MT-TF","MT-TH","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TW","MTOR","MTRR","MUC1","MVK","MYMK","MYMX","MYO5A","MYO7A","MYORG","NANS","NARS1","NCAPD3","NCF1","NDE1","NDN","NDP","NDUFA6","NDUFA8","NEDD4L","NEK1","NEUROD2","NEXMIF","NFIX","NHP2","NIPA1","NIPA2","NIPBL","NODAL","NOP10","NOVA2","NPHP1","NPM1","NPRL2","NPRL3","NRAS","NSDHL","NSMCE3","NSRP1","NUP107","NUP133","NUP37","NUS1","OCA2","OCLN","ODC1","OFD1","OPA1","OPHN1","OSGEP","OTUD6B","PAFAH1B1","PAH","PARN","PARS2","PAX6","PC","PCDH15","PCDHGC4","PDCD6IP","PDE6D","PDGFB","PDGFRB","PDHA1","PDHB","PDPN","PDZD7","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PEX7","PGAP1","PHACTR1","PHC1","PHGDH","PHOX2A","PI4KA","PIBF1","PIDD1","PIGA","PIGB","PIGL","PIGN","PIGP","PIGQ","PIGS","PIGV","PIK3CA","PIK3R2","PLAA","PLK4","PLP1","PNKP","POGZ","POLG2","POLR3A","POLR3B","POMGNT1","POMGNT2","POMK","POMT1","POMT2","POT1","POU4F1","PPFIBP1","PPIL1","PPP1R12A","PPP2R2B","PRDM16","PRDX1","PRKCZ","PRKDC","PRNP","PRUNE1","PSAT1","PSEN1","PSEN2","PSMB8","PSMG2","PTCH1","PTCH2","PTDSS1","PTEN","PTH","PUS3","PYCR2","QARS1","QDPR","RAB18","RAB39B","RAB3GAP1","RAB3GAP2","RAC1","RAD21","RARS2","RECQL4","RELN","RERE","RFC2","RFT1","RHOBTB2","RMND1","RNASEH1","RNASEH2A","RNASEH2B","RNASEH2C","RNASET2","RNF113A","RNF125","RNU12","RNU4ATAC","RNU7-1","ROBO1","RPGRIP1L","RPS6KA3","RTEL1","RTL1","RTTN","RXYLT1","SACS","SAMHD1","SARS1","SASS6","SC5D","SCN1A","SCN1B","SCN2A","SCN3A","SCN9A","SCO2","SCYL2","SEPSECS","SETBP1","SF3B4","SHH","SHMT2","SHQ1","SIK1","SIN3A","SIN3B","SIX3","SKI","SLC12A2","SLC12A3","SLC20A2","SLC25A15","SLC25A19","SLC25A22","SLC25A46","SLC26A2","SLC29A3","SLC2A1","SLC30A9","SLC32A1","SLC35A2","SLC35C1","SLC39A4","SLC39A8","SLC46A1","SLC4A4","SLC5A6","SLC9A6","SLITRK2","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SMC1A","SMC3","SMO","SMPD4","SNAP29","SNCA","SNORD118","SNRPB","SNRPN","SNX14","SON","SORL1","SOX11","SOX4","SPATA5","SPEN","SPG11","SPG7","SPOP","SPTAN1","SQSTM1","SRD5A3","SRPX2","STAMBP","STAT2","STIL","STS","STUB1","STX1A","STX1B","SUCLA2","SUFU","SUZ12","SYNJ1","TAF13","TARDBP","TARS1","TBC1D20","TBC1D24","TBCD","TBK1","TBL1XR1","TBL2","TBR1","TCF4","TCIRG1","TCTN1","TCTN2","TCTN3","TDGF1","TERC","TERT","TGIF1","TINF2","TMCO1","TMEM106B","TMEM147","TMEM218","TMEM222","TMEM237","TMEM270","TMEM67","TMEM70","TMTC3","TMX2","TNFRSF11A","TOGARAM1","TOMM40","TP53RK","TP73","TPRKB","TRAIP","TRAK1","TRAPPC10","TRAPPC12","TRAPPC14","TRAPPC6B","TRAPPC9","TREM2","TREX1","TRIM8","TRMT10C","TRRAP","TSC1","TSC2","TSEN15","TSEN2","TSEN34","TSEN54","TTC19","TTC5","TUBA1A","TUBA8","TUBB","TUBB2A","TUBB2B","TUBB3","TUBG1","TUBGCP2","TUBGCP4","TUBGCP6","TUFM","TWNK","TYMS","TYROBP","UBE3A","UBE4B","UBTF","UGP2","USB1","USH1C","USH1G","USH2A","USP18","USP9X","VAC14","VARS1","VCP","VIPAS39","VLDLR","VPS13A","VPS13C","VPS33A","VPS33B","VPS35","VPS37A","VPS37D","VPS4A","VRK1","WARS1","WDR26","WDR4","WDR62","WDR73","WFS1","WHRN","WRAP53","WT1","WWOX","XPA","XPC","XPR1","XRCC4","YRDC","YWHAE","YY1","ZBTB20","ZEB2","ZIC2","ZNF335","ZNF526","ZNFX1","ZNHIT3","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CORTICAL_DYSPLASIA":{"collection":"C5:HPO","systematicName":"M35882","pmid":"","exactSource":"HP:0002539","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002539","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CORTICAL_DYSPLASIA","geneSymbols":["ADGRG1","ADGRV1","AKT3","ARHGAP31","ASNS","ASPM","ATP6V0A1","B4GAT1","CNTNAP2","COL3A1","COL4A1","COPB2","CUL4B","DDX3X","DEPDC5","DLL1","DYNC1H1","FGFR1","FIG4","GABRD","GABRG2","HCN1","HSD17B4","IFNG","KIF2A","KIF5C","MTOR","NEDD4L","NPRL2","NPRL3","NUP133","PIK3CA","POMT1","PTEN","RTTN","SCN1A","SCN1B","SCN2A","SCN9A","SCO2","SIN3A","SIN3B","SLC12A2","SLC35A2","SNAP29","STX1B","TSC1","TSC2","TUBB","TUBB2A","TUBB2B","TUBB3","VPS37A","YY1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INABILITY_TO_WALK":{"collection":"C5:HPO","systematicName":"M35883","pmid":"","exactSource":"HP:0002540","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002540","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INABILITY_TO_WALK","geneSymbols":["ABCD1","ABHD16A","ACTB","ACTL6B","ADAM22","ADAR","ADSL","ADSS1","AGTPBP1","AIMP2","ALDH18A1","ALS2","AP4B1","AP4E1","AP4S1","APTX","ARL6IP1","ASAH1","ASPA","ASXL1","ASXL3","ATAD3A","ATL1","ATL3","ATM","ATN1","ATP6AP2","ATP6V1A","ATP8A2","BCAS3","BVES","C19orf12","CACNA1A","CACNA1B","CACNA1E","CACNA1G","CACNA1I","CACNA2D2","CAMK2A","CAMK2B","CDKL5","CDON","CELF2","CHCHD10","CHKA","CHRND","CLDN11","CLIC2","CLN3","CLN5","CLN8","CLTC","CNPY3","COPB1","COPB2","COQ2","CPLX1","CRAT","CRPPA","CTBP1","CTNNA2","DARS2","DCPS","DES","DHX30","DISP1","DLL1","DMD","DNAJB6","DNAJC6","DNM1","DNM1L","DOCK7","DOHH","DPAGT1","DPYD","DSTYK","DYM","DYNC1I2","DYSF","EIF2AK2","EIF2B3","EIF2B5","EIF2S3","EMD","EPM2A","EPRS1","ERBB4","ERLIN2","EXOSC5","EXT2","EXTL3","FA2H","FAR1","FARS2","FCSK","FGF12","FGF8","FGFR1","FHL1","FKRP","FLNC","FOXH1","FOXRED1","FUS","FXN","GABBR2","GABRA2","GABRB2","GALC","GAS1","GDAP1","GEMIN4","GEMIN5","GFM2","GGPS1","GIPC1","GLE1","GLI2","GLRX5","GMPPB","GNAO1","GNB1","GNPTAB","GOSR2","GOT2","GPAA1","GRIA2","GRIA4","GRIK2","GRIN1","GRM1","GSX2","GTPBP2","HACE1","HINT1","HK1","HNRNPA1","HNRNPH1","HNRNPK","HSD17B10","HTT","HYCC1","INTS1","INTS8","IRF2BPL","JAG2","KCNJ10","KCNQ2","KCNT1","KIF1A","KLC2","KLHL9","LAMA2","LARGE1","LDB3","LETM1","LMNA","LMX1B","LNPK","LONP1","LRP12","LRP5","LRPPRC","LYRM7","LYST","MAFB","MAG","MAGEL2","MAPK8IP3","MAPT","MARS2","MAST1","MBOAT7","MCM3AP","MDH2","MECP2","MECR","MED25","MEF2C","MFF","MFN2","MFSD2A","MORC2","MPV17","MPZ","MRPS34","MSTO1","MT-ATP6","MT-TE","MTM1","MTRFR","MYH7","MYOT","NDRG1","NDUFA6","NEB","NEFL","NEU1","NEUROD2","NGLY1","NHLRC1","NODAL","NOTCH2NLC","NTNG1","NTNG2","NTRK2","NUP54","NUP62","OGDHL","OPTN","OTUD6B","P4HTM","PANK2","PDHA1","PEX1","PEX16","PGAP2","PGAP3","PIEZO2","PIGA","PIGP","PIGS","PLA2G6","PLCB1","PLCH1","PLEC","PLP1","PMP22","PMPCB","PODXL","POLR3A","POLR3B","POMT1","POMT2","POT1","PPP1R21","PPP2R1A","PRUNE1","PRX","PSAP","PSMB1","PSMC1","PTCH1","PURA","PYCR2","RAB18","REPS1","RHOBTB2","RILPL1","RNASEH1","RPL10","RRM2B","SAMD9L","SATB1","SBF1","SBF2","SCN1A","SCN2A","SCN3A","SDHA","SDHAF1","SDHB","SDHD","SEC31A","SELENOI","SELENON","SERAC1","SGCB","SGCG","SH3TC2","SHH","SIGMAR1","SIX3","SLC12A5","SLC12A6","SLC16A2","SLC17A5","SLC19A3","SLC1A2","SLC1A4","SLC25A22","SLC25A4","SLC2A1","SLC2A3","SLC33A1","SLC35A2","SLC38A3","SLC39A14","SLC39A8","SLC6A17","SLC9A6","SMC1A","SMN1","SMN2","SMPD1","SMS","SNCA","SNX14","SPATA5","SPG11","SPTLC1","SPTLC2","ST3GAL3","STAC3","STAG2","STIL","STRADA","STXBP1","SUCLA2","SYNE1","SYNJ1","SYT1","TBC1D20","TBC1D23","TBC1D24","TBCD","TBCK","TBR1","TDGF1","TELO2","TFG","TGIF1","TGM6","TIMM8A","TK2","TMEM107","TMEM231","TNPO2","TNR","TOR1A","TRAPPC11","TRAPPC2L","TREX1","TRIM2","TRIM32","TRIP4","TRPM3","TSEN15","TUBB3","TWNK","UBE4A","UBTF","UCHL1","UNC80","UQCRQ","VAC14","VAMP2","VAPB","VARS1","VCP","VPS13A","VPS16","VPS33A","VPS41","VPS51","WARS1","WDR45B","ZC4H2","ZEB2","ZIC2","ZNF526"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_OLIVOPONTOCEREBELLAR_ATROPHY":{"collection":"C5:HPO","systematicName":"M35884","pmid":"","exactSource":"HP:0002542","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002542","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OLIVOPONTOCEREBELLAR_ATROPHY","geneSymbols":["ATXN1","ATXN2","ATXN7","COQ2","ERCC6","MBTPS2","TTC19"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RETROCOLLIS":{"collection":"C5:HPO","systematicName":"M41261","pmid":"","exactSource":"HP:0002544","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002544","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETROCOLLIS","geneSymbols":["ALS2","FUS","KMT2B","MAPT","PRKRA","SIGMAR1","SPG11","SPTLC1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INCOMPREHENSIBLE_SPEECH":{"collection":"C5:HPO","systematicName":"M35885","pmid":"","exactSource":"HP:0002546","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002546","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCOMPREHENSIBLE_SPEECH","geneSymbols":["CC2D1A","FOXP2","FXN","GATAD2B","GRIN2A","SATB2","SETBP1","SRPX2","YME1L1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PARKINSONISM_WITH_FAVORABLE_RESPONSE_TO_DOPAMINERGIC_MEDICATION":{"collection":"C5:HPO","systematicName":"M35886","pmid":"","exactSource":"HP:0002548","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002548","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PARKINSONISM_WITH_FAVORABLE_RESPONSE_TO_DOPAMINERGIC_MEDICATION","geneSymbols":["ATP13A2","ATP7B","CHCHD2","DNAJC13","EIF4G1","FBXO7","GBA1","GCH1","GIGYF2","HTRA2","LRRK2","MAPT","PARK7","PDE10A","PLA2G6","POLG","PSAP","RAB39B","SNCA","TAF1","TH","TK2","UCHL1","UQCRC1","VPS35"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DEFICIT_IN_PHONOLOGIC_SHORT_TERM_MEMORY":{"collection":"C5:HPO","systematicName":"M46074","pmid":"","exactSource":"HP:0002549","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002549","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEFICIT_IN_PHONOLOGIC_SHORT_TERM_MEMORY","geneSymbols":["GSN","MAPT","PRNP","RNASEH1","RRM2B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABSENT_FACIAL_HAIR":{"collection":"C5:HPO","systematicName":"M35888","pmid":"","exactSource":"HP:0002550","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002550","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_FACIAL_HAIR","geneSymbols":["ANAPC1","AR","BRAF","CDSN","CWC27","DSP","EDA","EDARADD","FGF10","FRAS1","GJB2","HOXC13","HR","JUP","KRT74","KRT85","LMNA","LRP1","MBTPS2","NECTIN4","ODC1","PHGDH","PKP1","POLR1B","POLR1C","POLR1D","POLR3A","RECQL","RECQL4","RIPK4","RNU12","SF3B4","SOX18","TCOF1","TP63","TWIST2","ZBTB20","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HIGHLY_ARCHED_EYEBROW":{"collection":"C5:HPO","systematicName":"M35889","pmid":"","exactSource":"HP:0002553","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002553","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HIGHLY_ARCHED_EYEBROW","geneSymbols":["ACTB","ACTG1","ADAT3","AFF4","AHI1","ANKRD11","ARL13B","ARL3","ARMC9","ASPM","ASXL2","ASXL3","AUTS2","B9D1","B9D2","BCOR","BCR","BICRA","BRD4","C12orf57","CAMK2G","CBL","CBY1","CC2D2A","CDC42","CDC42BPB","CDH11","CDK13","CEP104","CEP120","CEP290","CEP41","CHD7","CHD8","CHST3","CHSY1","CLCN6","CLP1","COLEC10","COLEC11","COX7B","CPLANE1","CPLX1","CREBBP","CRKL","CSNK2A1","CSPP1","CTBP1","CTCF","CTU2","CYFIP2","DDX6","ECEL1","EHMT1","EP300","ERMARD","ESCO2","FAM149B1","FAM20C","FAR1","FBXO31","FGFRL1","FOXG1","FOXL2","FRMD4A","GAD1","GJA5","GJA8","H4C11","H4C9","HDAC4","HDAC8","HNRNPH1","HSPA9","HYLS1","IFT74","IGF1R","INPP5E","KAT6A","KATNIP","KCNH1","KCNK9","KDM1A","KDM6A","KIAA0586","KIAA0753","KIF7","KIFBP","KMT2A","KMT2D","LETM1","LMX1B","LRPPRC","LTBP1","MADD","MAN1B1","MAN2B1","MAN2C1","MAPK1","MASP1","MBD5","MED27","MEGF8","MEIS2","MESD","MKS1","MN1","NCAPG2","NECTIN1","NELFA","NFIX","NIPBL","NPHP1","NSD2","NUP188","OFD1","OTUD6B","PACS1","PDE6D","PGAP1","PGAP2","PGAP3","PIBF1","PIGG","PIGL","PIGO","PIGS","PIGV","PIGW","PIGY","PPP1CB","PPP2R3C","PRR12","PTPRF","PUF60","PUS7","RAC1","RAD21","RHOBTB2","RNF2","ROBO1","RPGRIP1L","RPS23","RPS6KA3","RUSC2","SEMA3E","SETD2","SETD5","SHMT2","SLC45A1","SMARCA2","SMC1A","SMC3","SMPD4","SOX11","SPATA5","SPECC1L","SPEN","SPOP","STAG2","STRADA","STXBP1","SUFU","SUPT16H","SZT2","TAF6","TASP1","TBCK","TBX4","TCTN1","TCTN2","TCTN3","TFAP2B","TGDS","TMCO1","TMEM138","TMEM216","TMEM218","TMEM231","TMEM237","TMEM67","TMEM94","TOGARAM1","TOPORS","TRIO","TRRAP","TTC5","TWIST2","UGP2","VPS35L","WASHC4","ZBTB18","ZEB2","ZNF423","ZNF462","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABSENT_PUBIC_HAIR":{"collection":"C5:HPO","systematicName":"M35890","pmid":"","exactSource":"HP:0002555","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002555","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_PUBIC_HAIR","geneSymbols":["AR","CYP17A1","EPS8L3","GJB2","GJB6","GNRH1","HR","ITGB4","NR5A1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPOPLASTIC_NIPPLES":{"collection":"C5:HPO","systematicName":"M35891","pmid":"","exactSource":"HP:0002557","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002557","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASTIC_NIPPLES","geneSymbols":["ALG9","ANTXR1","BRD4","CCDC47","CHRNG","DLK1","EDA","EDARADD","FAT4","FIG4","GNE","HDAC8","IKBKG","KDM6B","KIF15","KMT2D","KRT10","MEG3","MEGF8","MGAT2","NIPBL","PEX2","PIGL","PORCN","PTPRF","RAD21","RTL1","SETBP1","SLC25A24","SMC1A","SMC3","TBX3","TP63","TUBB","TWIST2","UBR1","USP9X","WNT7A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SUPERNUMERARY_NIPPLE":{"collection":"C5:HPO","systematicName":"M35892","pmid":"","exactSource":"HP:0002558","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002558","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUPERNUMERARY_NIPPLE","geneSymbols":["ACTB","ARHGAP31","ASXL1","ASXL3","CDH2","CHAMP1","CKAP2L","COLEC10","COLEC11","CSPP1","DDX6","DHODH","GDF11","GPC3","GPC4","H4C9","HDAC4","HNRNPK","HS2ST1","IKBKG","JARID2","KDM1A","KDM5B","KIAA0586","KRAS","MASP1","MDH2","MEGF8","NONO","PGAP2","PGAP3","PIGL","PIGO","PIGV","PIGW","PIGY","PNPLA6","PORCN","PPP2R5D","RNF216","STAG1","TCF4","TFAP2A","TFAP2B","TMCO1","TNRC6B","TP63","TRRAP","UBA2","WDR19","ZEB2","ZMYND11"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABSENT_NIPPLE":{"collection":"C5:HPO","systematicName":"M35893","pmid":"","exactSource":"HP:0002561","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002561","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_NIPPLE","geneSymbols":["CDH11","EDA","EDARADD","FIG4","KMT2D","PTPRF","RSPO2","SLC25A24","TP63","TWIST2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LOW_SET_NIPPLES":{"collection":"C5:HPO","systematicName":"M41262","pmid":"","exactSource":"HP:0002562","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002562","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOW_SET_NIPPLES","geneSymbols":["AARS1","CARS1","ERCC2","ERCC3","GTF2E2","GTF2H5","H3-3A","KAT6A","MPLKIP","PIGL","RNF113A","TARS1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INTESTINAL_MALROTATION":{"collection":"C5:HPO","systematicName":"M35894","pmid":"","exactSource":"HP:0002566","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002566","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTESTINAL_MALROTATION","geneSymbols":["ABL1","ACTA2","ACTG2","ALG12","AMER1","ARID1B","ARVCF","ASXL1","ASXL3","BCOR","BRD4","CAMK2A","CCDC103","CCDC22","CCDC39","CCDC40","CCDC65","CCNO","CENPF","CFAP221","CFAP298","CFAP300","CFAP45","CFAP74","CFC1","CHRM3","CHST14","CLMP","COMT","CPLX1","CREBBP","CTBP1","DHCR24","DHCR7","DHODH","DNAAF1","DNAAF11","DNAAF2","DNAAF3","DNAAF4","DNAAF5","DNAAF6","DNAH1","DNAH11","DNAH5","DNAH9","DNAI1","DNAI2","DNAJB13","DNAL1","DPYSL5","DRC1","DSE","DYNC2H1","EP300","ERBB3","EXT2","EYA1","FARSB","FBN2","FGFR2","FGFRL1","FLI1","FLNA","FLNB","FOXF1","FOXJ1","FREM2","GAS2L2","GAS8","GATA6","GP1BB","GPC3","GPC4","HDAC8","HIRA","HMGA2","HNRNPU","HYDIN","IFT43","IPO8","ISL1","JMJD1C","KAT6A","KAT6B","KDM6A","KMT2D","LEMD3","LETM1","LMOD1","LONP1","LRP2","LRRC56","MCIDAS","MED12","MKS1","MMP21","MYH11","MYLK","MYRF","NEK1","NEK10","NIPBL","NME5","NME8","NODAL","NOTCH2","NPHP3","NSD2","ODAD1","ODAD2","ODAD3","ODAD4","OFD1","PI4KA","PIGN","PORCN","RAD21","RARB","RFX6","ROBO1","RPGR","RREB1","RSPH1","RSPH3","RSPH4A","RSPH9","SALL4","SEC24C","SETD5","SIX1","SLC12A2","SMAD2","SMC1A","SMC3","SMO","SPAG1","SPEF2","SPINT2","STK36","TBX1","TFAP2A","TMEM216","TMEM94","TP63","TTC12","TTC7A","UBE3B","UFD1","VPS35L","WASHC5","WNT4","ZFPM2","ZMYND10","ZPR1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_STEATORRHEA":{"collection":"C5:HPO","systematicName":"M47062","pmid":"","exactSource":"HP:0002570","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002570","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_STEATORRHEA","geneSymbols":["ACOX2","AKR1D1","ANTXR2","APOB","CCDC47","CEACAM3","CEACAM6","CFTR","CLCA4","CLMP","COX4I2","CTRC","CYP7B1","DCTN4","DNAJC21","EDNRA","EFL1","EPCAM","FCGR2A","GCLC","GSTM3","HFE","HLA-DQA1","HLA-DQB1","HMOX1","HSD3B7","KCNN4","LBR","LIPA","MIF","MPI","MTTP","PERCC1","PEX12","PMM2","PNLIP","PRSS1","PRSS2","PTF1A","PTRH2","SAR1B","SBDS","SERPINA1","SHPK","SLC10A2","SLC11A1","SLC26A9","SLC51B","SLC6A14","SLC7A7","SLC9A3","SPINK1","SRP54","STX1A","TGFB1","TJP2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_EPISODIC_VOMITING":{"collection":"C5:HPO","systematicName":"M35896","pmid":"","exactSource":"HP:0002572","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002572","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EPISODIC_VOMITING","geneSymbols":["ACADVL","ADNP","ALAD","ALDH18A1","ALG11","ARG1","CA5A","CCM2","CDC42BPB","CDK13","CDK8","COQ2","CPOX","D2HGDH","FAH","FGF13","GAMT","GK","HMGCL","HNRNPK","HS3ST6","KRIT1","LBX1","MT-ATP6","MT-CO1","MT-CO2","MT-CO3","MT-CYB","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND5","MT-ND6","MT-TC","MT-TF","MT-TK","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TV","MT-TW","NAXD","NDUFS1","NDUFS7","NEXMIF","NFIX","NLRC4","NOTCH2NLC","NSD1","PDCD10","PIK3CA","SHANK3","SLC25A15","SLC5A6","SUOX","TTR","UNC45A","UQCRC2","ZEB2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HEMATOCHEZIA":{"collection":"C5:HPO","systematicName":"M35897","pmid":"","exactSource":"HP:0002573","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002573","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEMATOCHEZIA","geneSymbols":["ACVRL1","AMACR","APC","ARPC1B","BMPR1A","CYP7B1","ENG","F5","GREM1","HPS1","IFIH1","IL10RA","PLVAP","PTEN","RBCK1","SMAD4","TAOK1","TTC7A","WAS","WIPF1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_TRACHEOESOPHAGEAL_FISTULA":{"collection":"C5:HPO","systematicName":"M35899","pmid":"","exactSource":"HP:0002575","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002575","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TRACHEOESOPHAGEAL_FISTULA","geneSymbols":["ARNT2","BAZ1B","BCL7B","BRCA1","BRCA2","BRIP1","BUD23","CHD7","CLIP2","CTC1","CYBA","CYBB","CYBC1","DKC1","DNAJC30","EIF4H","ELN","ERCC4","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FBN2","FGF20","FGFR1","FKBP6","FOXF1","GFRA1","GREB1L","GTF2I","GTF2IRD1","GTF2IRD2","HESX1","HOXD13","ITGA8","LIMK1","LMBRD1","MAD2L2","METTL27","MID1","MLXIPL","MYCN","NCF1","NCF2","NCF4","NHP2","NOP10","NOTCH3","NPM1","OTX2","PAICS","PALB2","PARN","PDGFRB","POLA1","POLR1B","POLR1C","POLR1D","PROKR2","RAD51","RAD51C","RET","RFC2","RFWD3","RTEL1","SALL1","SEMA3E","SLC12A2","SLX4","SOX2","SOX3","STX1A","TBL2","TCOF1","TERC","TERT","TINF2","TMEM270","TYMS","UBA2","UBE2T","USB1","VPS37D","WBP11","WNT7A","WNT9B","WRAP53","XRCC2","ZIC3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INTUSSUSCEPTION":{"collection":"C5:HPO","systematicName":"M35900","pmid":"","exactSource":"HP:0002576","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002576","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTUSSUSCEPTION","geneSymbols":["ARID1B","BMPR1A","GREM1","PDGFRA","PTEN","SMAD4","STAT1","STK11","UNC45A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_STOMACH_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M35901","pmid":"","exactSource":"HP:0002577","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002577","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_STOMACH_MORPHOLOGY","geneSymbols":["AAGAB","ABCC2","ACD","ADAMTS2","ADAMTS3","ADAMTSL2","AIRE","AKT1","ALDH18A1","APC","ARF1","ARFGEF2","ARID1B","ATAD1","ATP6V1E1","ATP7A","AURKA","AXIN2","BAP1","BAX","BAZ1B","BCL10","BCL7B","BCOR","BCR","BIN1","BLM","BMPR1A","BRAF","BRD4","BUB1","BUB1B","BUB3","BUD23","C1R","CAMTA1","CARD8","CASP10","CASZ1","CAVIN1","CBLIF","CCBE1","CCND1","CDH1","CDK4","CDKN2A","CDKN2B","CEP57","CHEK2","CHST14","CISD2","CLIP2","COL14A1","COL18A1","COL1A1","COL5A1","COL5A2","CRKL","CTLA4","CTNNB1","CYBA","CYBB","CYBC1","DCC","DEF6","DHCR7","DHODH","DLC1","DLK1","DNAJC30","DNM2","DYRK1A","EFEMP2","EIF4H","ELF4","ELN","ENG","EP300","ERBB2","ERMARD","EXT2","FAS","FASLG","FAT4","FBLN5","FGFR2","FGFR3","FIG4","FKBP6","FLCN","FLI1","FLNA","FOCAD","FOXP3","GABRD","GBA1","GLIS3","GLRA1","GLRB","GON7","GPHN","GTF2H5","GTF2I","GTF2IRD1","GTF2IRD2","HDAC4","HDAC8","HNF1B","HRAS","HSPG2","IFIH1","IGHG2","IGKC","IL1B","IL1RN","IPO8","IRF1","ITGA6","ITGB4","KANSL1","KCNAB2","KIT","KLF6","KRAS","LAGE3","LAMA3","LAMB3","LAMC2","LBR","LIMK1","LRBA","LTBP1","LTBP4","LUZP1","MAP1B","MAP3K7","MAPK1","MC1R","MCC","MDM2","MED12","MEG3","METTL27","MGMT","MITF","MLH1","MLH3","MLXIPL","MMP23B","MSH2","MSH3","MSH6","MTM1","MTMR14","MUTYH","MYF6","MYH11","NAA10","NCF1","NCF2","NCF4","NEDD4L","NEFH","NEK9","NFIX","NFKB1","NFKB2","NIPBL","NPHS1","NRAS","NUP107","NUP133","OSGEP","OTC","PAK2","PDE11A","PDGFRA","PDGFRL","PDPN","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PIEZO2","PIK3CA","PLA2G2A","PLA2G4A","PLEC","PORCN","POT1","PPP2R3C","PPP2R5D","PRDM16","PRKAR1A","PRKCD","PRKCZ","PTCH1","PTPN12","PTPRJ","PYCR1","RAD21","RAD54B","RASGRP1","RERE","RFC2","RIPK1","RNF43","RPS20","RTL1","RYR1","SDHA","SDHB","SDHC","SEMA4A","SERPINA1","SERPINH1","SH2B1","SKI","SKIC2","SKIC3","SLC2A10","SLC6A5","SMAD4","SMC1A","SMC3","SPEN","SRC","STK11","STS","STX1A","SYK","SYT2","TBL2","TBX3","TCF4","TERF2IP","TERT","TFAP2A","TGFB3","TLR2","TMEM270","TMTC3","TNXB","TP53","TP53RK","TPRKB","TREX1","TRIP13","UBE4B","VAC14","VPS37D","WDR4","WDR73","WFS1","YRDC","ZBTB7A","ZEB2","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_GASTROPARESIS":{"collection":"C5:HPO","systematicName":"M35902","pmid":"","exactSource":"HP:0002578","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002578","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GASTROPARESIS","geneSymbols":["ACTG2","AFF4","ATP7A","DNAJC6","EIF2AK2","HNRNPK","HTRA2","LRRK2","MAGEL2","MAP3K7","MGAT2","MPEG1","MYH11","NDN","OCA2","PARK7","PINK1","PODXL","POLG","POLG2","PRKN","RAD21","RRM2B","SLC25A4","SNCA","SNRPN","SON","SYNJ1","TMEM70","TWNK","TYMP","UCHL1","VPS13C"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_VOLVULUS":{"collection":"C5:HPO","systematicName":"M35904","pmid":"","exactSource":"HP:0002580","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002580","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VOLVULUS","geneSymbols":["AP1S1","ATRX","BRD4","CHRM3","DIS3L2","EXT2","FOXF1","HDAC8","MYH11","NIPBL","PACS1","RAD21","SMC1A","SMC3","TEK","VARS1","VPS51"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ATROPHIC_GASTRITIS":{"collection":"C5:HPO","systematicName":"M35905","pmid":"","exactSource":"HP:0002582","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002582","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ATROPHIC_GASTRITIS","geneSymbols":["AIRE","CDH1","CTLA4","DEF6","IFIH1","LRBA","NFKB1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_COLITIS":{"collection":"C5:HPO","systematicName":"M35906","pmid":"","exactSource":"HP:0002583","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002583","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_COLITIS","geneSymbols":["ACADVL","BACH2","BCL10","CARD11","CARD8","CARMIL2","CASP10","CIITA","CYBC1","DCLRE1B","DEF6","DOCK2","ELANE","ELF4","FAS","FASLG","FCHO1","FCN3","FERMT1","FH","FOXP3","GPIHBP1","GPR35","HPS1","IL10RA","IL10RB","IL37","IL6","INAVA","IVNS1ABP","LRBA","MAP3K7","MASP2","MST1","MYH11","NCF4","NLRC4","NOD2","OPLAH","PIGY","PIK3CD","PIK3CG","PLCG2","POLA1","PRF1","PRKCD","PSTPIP1","RASGRP1","RET","RFX5","RFXANK","RFXAP","RTEL1","SEMA4D","SKIC2","SKIC3","SLC37A4","STAT1","STX11","STXBP2","SYK","TCF4","TGFB1","TNFAIP3","TOM1","TTC7A","UNC13D","WAS","XIAP","ZAP70"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INTESTINAL_BLEEDING":{"collection":"C5:HPO","systematicName":"M35907","pmid":"","exactSource":"HP:0002584","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002584","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTESTINAL_BLEEDING","geneSymbols":["APC","BMPR1A","CTC1","PTEN","STK11","TEK"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_PERITONEUM_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M35908","pmid":"","exactSource":"HP:0002585","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002585","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PERITONEUM_MORPHOLOGY","geneSymbols":["ACTN4","ANKFY1","ANLN","APOL1","ARHGAP24","ARHGDIA","BCL2","BCL6","BRCA1","BRCA2","CALR","CD2AP","CDC45","CDKN2A","CFB","COL4A3","COQ8B","CRB2","DAAM2","ELANE","ELP1","EMP2","EWSR1","F10","F5","FOCAD","GAPVD1","HLA-DRB1","INF2","JAK2","KRAS","MAGI2","MEFV","MVK","MYH11","MYO1E","NAB2","NPHS1","NPHS2","NUP107","NUP133","NUP160","NUP205","NUP37","NUP85","NUP93","PALB2","PALLD","PAX2","PI4KA","PLCE1","PTPRO","RABL3","SERPINE1","SLC29A3","SMAD4","STAT6","TBC1D8B","TNFRSF1A","TP53","TRPC6","TTC7A","WT1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PERITONITIS":{"collection":"C5:HPO","systematicName":"M35909","pmid":"","exactSource":"HP:0002586","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002586","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERITONITIS","geneSymbols":["ACTN4","ANKFY1","ANLN","APOL1","ARHGAP24","ARHGDIA","BRCA1","CALR","CD2AP","CDC45","CFB","COL4A3","COQ8B","CRB2","DAAM2","ELANE","EMP2","F5","FOCAD","GAPVD1","INF2","JAK2","MAGI2","MEFV","MVK","MYH11","MYO1E","NPHS1","NPHS2","NUP107","NUP133","NUP160","NUP205","NUP37","NUP85","NUP93","PAX2","PLCE1","PTPRO","TBC1D8B","TNFRSF1A","TRPC6","WT1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DUODENAL_ULCER":{"collection":"C5:HPO","systematicName":"M41264","pmid":"","exactSource":"HP:0002588","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002588","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DUODENAL_ULCER","geneSymbols":["ARID1B","CDKN1A","CDKN1B","CDKN2B","CDKN2C","EP300","MEN1","PLA2G4A","PLG","SYK","XYLT2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_GASTROINTESTINAL_ATRESIA":{"collection":"C5:HPO","systematicName":"M35910","pmid":"","exactSource":"HP:0002589","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002589","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GASTROINTESTINAL_ATRESIA","geneSymbols":["AP1S1","AR","ARNT2","BUB1","BUB1B","BUB3","CAMK2A","CDON","CENPF","CEP57","CFAP45","CHD7","CHRM3","CLMP","COX7B","DIS3L2","DISP1","DLL1","DYNC2H1","DYNC2I1","DYNC2I2","DYRK1A","EFTUD2","ERCC4","FANCB","FANCD2","FANCF","FANCL","FBN2","FGF8","FGFR1","FGFR2","FLI1","FOXF1","FOXH1","FREM2","GAS1","GLI2","GMPPB","HCCS","HESX1","IFT80","ITGA6","ITGB4","KDM3B","MAMLD1","MIR17HG","MYCN","MYH11","NDUFB11","NODAL","OTX2","PAH","PAICS","PI4KA","PIGN","PLEC","POLA1","PORCN","PPP1R12A","PROKR2","PTCH1","RAD51C","RERE","RFWD3","RFX6","RMRP","RTTN","SALL1","SHH","SIN3A","SIX3","SIX6","SLC25A12","SMARCD1","SON","SOX2","SOX3","SPINK5","STAG2","SUFU","TCTN3","TDGF1","TGIF1","TRIP13","TTC7A","WBP11","WDR35","YY1","ZIC2","ZIC3","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_POLYPHAGIA":{"collection":"C5:HPO","systematicName":"M35911","pmid":"","exactSource":"HP:0002591","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002591","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POLYPHAGIA","geneSymbols":["ABCC8","ADCY3","ADNP","AGPAT2","ALMS1","ATP10A","ATP5F1B","BBS9","BRAF","BSCL2","CASZ1","CHD8","CTNNB1","EZH2","FOXG1","GABRD","GNAS","GPR101","GRN","HERC2","HNF1A","HSPG2","HTT","IFT74","IL6","ITPR3","KCNAB2","KCNJ11","LEP","LEPR","LUZP1","MAGEL2","MAN1B1","MAPT","MBD5","MC4R","MEN1","MKRN3","MMP23B","MN1","MYT1L","NDN","NPAP1","NTRK2","OCA2","PCSK1","PDPN","POMC","PRDM16","PREPL","PRKCZ","PSEN1","PTPN22","PWAR1","PWRN1","RERE","RFX7","SATB2","SETD2","SH2B1","SIM1","SKI","SLC2A3","SLC3A1","SLC5A2","SNORD115-1","SNORD116-1","SNRPN","SPEN","SUPT16H","TRANK1","UBE3A","UBE4B","UCP2","YY1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_GASTRIC_ULCER":{"collection":"C5:HPO","systematicName":"M35912","pmid":"","exactSource":"HP:0002592","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002592","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GASTRIC_ULCER","geneSymbols":["ARID1B","CISD2","GBA1","PLA2G4A","WFS1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PANCREATIC_HYPOPLASIA":{"collection":"C5:HPO","systematicName":"M41265","pmid":"","exactSource":"HP:0002594","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002594","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PANCREATIC_HYPOPLASIA","geneSymbols":["ABCC8","APPL1","BLK","CEL","DNAJC21","EFL1","FOCAD","GATA6","GCK","GLIS3","HNF1A","HNF1B","HNF4A","INS","KCNJ11","KLF11","NEUROD1","PAX4","PDX1","PTF1A","RFX6","SBDS","SLC29A3","SRP54","STAT3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ILEUS":{"collection":"C5:HPO","systematicName":"M35913","pmid":"","exactSource":"HP:0002595","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002595","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ILEUS","geneSymbols":["CAVIN1","CEACAM3","CEACAM6","CFTR","CLCA4","DCTN4","EDNRA","EWSR1","FAH","FCGR2A","FOXP3","GCLC","GSTM3","GUCY2C","HFE","HMBS","HMOX1","KCNN4","KIF26A","MIF","MTRFR","PPOX","SERPINA1","SLC11A1","SLC18A3","SLC26A9","SLC6A14","SLC6A8","SLC9A3","SOX10","STX1A","TGFB1","WT1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HEAD_TITUBATION":{"collection":"C5:HPO","systematicName":"M35914","pmid":"","exactSource":"HP:0002599","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002599","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEAD_TITUBATION","geneSymbols":["AARS1","ALS2","EIF2AK2","FUS","GJC2","HIBCH","HSPD1","KARS1","KIF1C","LAMA1","LMNB1","NKX6-2","PI4KA","PLP1","RNU12","SIGMAR1","SPG11","SPTBN1","SPTLC1","TMEM63A","UCHL1","VPS13A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPOREFLEXIA_OF_LOWER_LIMBS":{"collection":"C5:HPO","systematicName":"M35915","pmid":"","exactSource":"HP:0002600","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002600","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOREFLEXIA_OF_LOWER_LIMBS","geneSymbols":["ADSS1","ATL3","ATP6AP2","ATP9A","BICD2","CRYAB","DES","DYNC1H1","DYSF","FASTKD2","FBLN5","FBXO38","FLNC","FLRT1","GAN","GDAP1","HADHA","HADHB","HSPB1","HSPB8","IBA57","IFRD1","KLC2","LDB3","LMNA","MAG","MTPAP","MYH14","MYOT","PDK3","PMP22","PRKCG","REEP1","RUBCN","SPTLC2","STIM1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PARESIS_OF_EXTENSOR_MUSCLES_OF_THE_BIG_TOE":{"collection":"C5:HPO","systematicName":"M46075","pmid":"","exactSource":"HP:0002601","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002601","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PARESIS_OF_EXTENSOR_MUSCLES_OF_THE_BIG_TOE","geneSymbols":["GCH1","HSPB1","HSPB8","IMPDH2","MFN2","NR4A2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HEPATIC_NECROSIS":{"collection":"C5:HPO","systematicName":"M35916","pmid":"","exactSource":"HP:0002605","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002605","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEPATIC_NECROSIS","geneSymbols":["ACADVL","CTNNB1","DGUOK","ETFA","ETFB","ETFDH","HADH","MET","MPV17","NHLRC2","SDHD","TERC","TERT","TINF2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CELIAC_DISEASE":{"collection":"C5:HPO","systematicName":"M35917","pmid":"","exactSource":"HP:0002608","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002608","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CELIAC_DISEASE","geneSymbols":["BICRA","ELN","GPR35","HLA-DQA1","HLA-DQB1","IGHG2","IGKC","IL12A","IL12RB1","IPO8","IRF5","IVNS1ABP","MED12","MLXIPL","MMEL1","MST1","ODC1","POU2AF1","SATB2","SEMA4D","SOCS1","SPIB","SRCAP","STAT3","STAT5B","TBC1D7","TCF4","TNFSF15","TNPO3","WAC"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CHOLESTATIC_LIVER_DISEASE":{"collection":"C5:HPO","systematicName":"M35918","pmid":"","exactSource":"HP:0002611","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002611","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHOLESTATIC_LIVER_DISEASE","geneSymbols":["AMACR","CCDC115","DHCR7","DNASE2","EPCAM","HADHA","HSD3B7","NEUROG3","NOTCH2","PERCC1","PRF1","SHPK","STX11","STXBP2","UNC13D","VIPAS39","VPS33B","YARS1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CONGENITAL_HEPATIC_FIBROSIS":{"collection":"C5:HPO","systematicName":"M35919","pmid":"","exactSource":"HP:0002612","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002612","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONGENITAL_HEPATIC_FIBROSIS","geneSymbols":["ARHGAP31","B9D1","B9D2","CC2D2A","CEP164","CEP290","CSPP1","DCDC2","DLL4","DOCK6","DYNC2H1","DYNC2I1","DYNC2I2","DZIP1L","EOGT","HAMP","HJV","IFT140","IFT80","INPP5E","INVS","IQCB1","MKS1","NOTCH1","NPHP1","NPHP3","NPHP4","PKHD1","PNPLA6","RBPJ","RPGRIP1","RPGRIP1L","SDCCAG8","TCTN1","TCTN2","TCTN3","TMEM107","TMEM216","TMEM231","TMEM237","TMEM67","TRAF3IP1","TTC26","TXNDC15","WDR19","WDR35"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BILIARY_CIRRHOSIS":{"collection":"C5:HPO","systematicName":"M35920","pmid":"","exactSource":"HP:0002613","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002613","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BILIARY_CIRRHOSIS","geneSymbols":["ABCB4","CFTR","DCDC2","FCGR2A","IL12A","IL12RB1","IRF5","KRT18","LBR","MMEL1","NPHP3","PKHD1","POU2AF1","SPIB","TGFB1","TNFSF15","TNPO3","TTC26","WDR35"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPOTENSION":{"collection":"C5:HPO","systematicName":"M35921","pmid":"","exactSource":"HP:0002615","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002615","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOTENSION","geneSymbols":["AAAS","ABCA3","ACAT1","ACE","AGT","AGTR1","AIP","ALB","ARSA","ASXL1","ATP7A","ATRX","CASR","CAV1","CBL","CD46","CDH23","CFH","CFI","CHCHD2","CHRNA3","CLCNKB","COL1A1","COL5A1","COL5A2","COQ2","CYB561","CYP11A1","CYP11B2","DAXX","DBH","DCTN1","DDC","DNAJC13","EIF4G1","ELP1","FMR1","FOXA2","GBA1","GBE1","GIGYF2","GLI2","GMPPA","GNA11","GSN","HADHB","HELLPAR","HESX1","HEXB","HMGCL","HSD3B2","IL12A","IL12RB1","IRF4","IRF5","KCNJ1","KIT","KYNU","LEP","LEPR","LHX4","LMNB1","LRRK2","MC2R","MEN1","MMEL1","MRAP","MUC1","NFKB2","NNT","NR3C2","NTRK1","OTX2","PDE4D","POU1F1","POU2AF1","PRKAG2","PROP1","PSAP","REN","RUNX1","RYR1","SAA1","SCNN1A","SCNN1B","SERPINA6","SERPING1","SFTPB","SFTPC","SIM1","SLC12A1","SLC12A3","SLC25A20","SNCA","SOX3","SPG11","SPIB","SRSF2","STAR","TBX19","TET2","TNFSF15","TNNT2","TNPO3","TTR","TXNRD2","VHL","VPS35"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_AORTIC_ROOT_ANEURYSM":{"collection":"C5:HPO","systematicName":"M35922","pmid":"","exactSource":"HP:0002616","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002616","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AORTIC_ROOT_ANEURYSM","geneSymbols":["ABL1","ACTA2","AEBP1","AFF4","ALDH1A2","ALG5","ALG9","ANGPTL6","ATP2B1","B3GALT6","B3GAT3","BGN","BICC1","CARS1","CHST3","COL1A1","COL1A2","COL3A1","COL5A1","COL5A2","DNAJB11","DNMT3A","EFEMP2","ELN","ENG","ERCC6","ERCC8","FBN1","FBN2","FMR1","FOXE3","GANAB","HEY2","HNRNPK","IFT140","IPO8","KANSL1","KCNH1","LMNA","LOX","MAT2A","MFAP5","MID1","MYH11","MYLK","MYPN","NKAP","NPR3","PGM3","PIGN","PKD1","PKD2","PPP1CB","PRKG1","ROBO4","SLC2A10","SMAD2","SMAD3","SMAD4","SPECC1L","TGFB2","TGFB3","TGFBR1","TGFBR2","TGFBR3","THSD1","THSD4","TPM2","TPM3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_VASCULAR_DILATATION":{"collection":"C5:HPO","systematicName":"M35923","pmid":"","exactSource":"HP:0002617","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002617","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VASCULAR_DILATATION","geneSymbols":["ABCC6","ABL1","ACTA2","ADAMTS19","ADAR","AEBP1","AFF4","ALDH18A1","ALDH1A2","ALG5","ALG9","ANGPTL6","APC2","ARF1","ARFGEF2","ATP2B1","ATP6V1A","ATP7A","B3GALT6","B3GAT3","BAZ1B","BCL7B","BCR","BGN","BICC1","BRAF","BRF1","BUD23","C12orf57","CARS1","CASZ1","CAVIN1","CHD7","CHRNG","CHST3","CLIP2","COL1A1","COL1A2","COL3A1","COL4A1","COL5A1","COL5A2","CRB2","CRKL","DNAJB11","DNAJC30","DNMT3A","DPH5","EFEMP2","EIF4H","ELN","ENG","ENPP1","EPHB4","ERCC6","ERCC8","ERMARD","EXT1","EXT2","FARSB","FBLN5","FBN1","FBN2","FKBP6","FLNA","FLNB","FMR1","FOCAD","FOXE3","GAA","GABRD","GANAB","GATA5","GGCX","GJA5","GJA8","GMPPB","GTF2I","GTF2IRD1","GTF2IRD2","HEY2","HGD","HLA-B","HLA-DRB1","HNRNPK","HSPG2","IFIH1","IFNG","IFT140","IL12B","IL6ST","IPO8","KANSL1","KCNAB2","KCNH1","LIMK1","LMNA","LOX","LRP5","LSM11","LTBP1","LTBP4","LUZP1","MAP1B","MAPK1","MAT2A","MED12","METTL27","MFAP5","MID1","MKS1","MLX","MLXIPL","MMP23B","MNX1","MYH11","MYH3","MYLK","MYPN","NCF1","NDE1","NEDD4L","NF1","NKAP","NKX2-5","NOD2","NODAL","NOTCH1","NOTCH3","NPPA","NPR3","NSD1","NSMCE2","OFD1","P4HA2","PAM16","PBX1","PCNT","PDE11A","PDPN","PEX12","PGM3","PIGN","PKD1","PKD2","PKP2","PLOD1","PLOD3","PPP1CB","PRDM16","PRKAR1A","PRKCSH","PRKCZ","PRKG1","PTEN","PTPN11","PTPN22","RAF1","RAI1","RASA1","RERE","RFC2","RIN2","RNASEH2A","RNASEH2B","RNASEH2C","RNU7-1","ROBO4","RPL10","SALL4","SAMHD1","SEC61A1","SEC63","SEMA3E","SETD2","SKI","SLC25A24","SLC2A10","SMAD2","SMAD3","SMAD4","SMAD6","SOX10","SPECC1L","SPEN","SPTBN1","STAT1","STAT3","STX1A","TAB2","TBL2","TGFB2","TGFB3","TGFBR1","TGFBR2","TGFBR3","THSD1","THSD4","TMEM270","TMEM67","TMTC3","TNNT2","TOM1","TONSL","TPM2","TPM3","TREX1","TSC1","TSC2","UBE4B","UBR1","VPS37D","WDR19","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_VARICOSE_VEINS":{"collection":"C5:HPO","systematicName":"M35924","pmid":"","exactSource":"HP:0002619","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002619","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VARICOSE_VEINS","geneSymbols":["AEBP1","ANGPT2","ARVCF","CLCNKB","COL3A1","COMT","ENG","EPHB4","FIBP","FLT4","FOXC2","G6PC3","GBA1","GJC2","GP1BB","HIRA","JMJD1C","KIF5A","NOTCH3","PIEZO1","PIK3CA","RASA1","RREB1","SEC24C","SLC12A3","SLC29A3","SMAD2","SMAD3","TBX1","UFD1","VHL"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_OVERRIDING_AORTA":{"collection":"C5:HPO","systematicName":"M35925","pmid":"","exactSource":"HP:0002623","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002623","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OVERRIDING_AORTA","geneSymbols":["BAZ1B","BCL7B","BUD23","CHD7","CLIP2","COX7B","DNAJC30","EIF4H","ELN","FGFR2","FKBP6","GTF2I","GTF2IRD1","GTF2IRD2","HCCS","LARS2","LIMK1","METTL27","MLXIPL","NCF1","NDUFB11","NEK9","RAI1","RFC2","STX1A","TBL2","TGDS","TMEM270","VPS37D"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_VENOUS_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M35926","pmid":"","exactSource":"HP:0002624","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002624","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_VENOUS_MORPHOLOGY","geneSymbols":["ACVR2B","ADH5","AEBP1","AGGF1","AGPAT2","AKT1","ALX4","ANGPT2","ANTXR1","ARVCF","ATN1","ATP6V0A2","ATP6V1A","ATP6V1E1","ATP7A","BANF1","BAP1","BSCL2","C1R","C1S","CAV1","CAVIN1","CCDC103","CCDC39","CCDC40","CCDC65","CCM2","CCNO","CFAP221","CFAP298","CFAP300","CFAP74","CFC1","CIROP","CLCNKB","COG4","COL3A1","COMT","CREBBP","CWC27","DNAAF1","DNAAF11","DNAAF2","DNAAF3","DNAAF4","DNAAF5","DNAAF6","DNAH1","DNAH11","DNAH5","DNAH9","DNAI1","DNAI2","DNAJB13","DNAL1","DRC1","ENG","EP300","EPHB4","ERCC8","FADD","FANCB","FIBP","FLT4","FOS","FOXC2","FOXF1","FOXJ1","G6PC3","GAS2L2","GAS8","GBA1","GJC2","GLMN","GNAQ","GNB2","GP1BB","GPR35","HIRA","HYDIN","JMJD1C","KDM3B","KIF5A","KRIT1","LEMD2","LMNA","LRPPRC","LRRC56","MCIDAS","MED25","MID1","MMP21","MST1","MSX2","NCAPG2","NDP","NEK10","NKX2-6","NME5","NME8","NOTCH3","ODAD1","ODAD2","ODAD3","ODAD4","OFD1","PDCD10","PDGFRB","PIEZO1","PIK3CA","PIK3R1","PLOD1","PLXND1","POLR3A","PPARG","PPP1R15B","PRKACB","PRKCD","PROC","PROS1","PTDSS1","PTEN","PYCR1","RAI1","RASA1","RBM10","RPGR","RREB1","RSPH1","RSPH3","RSPH4A","RSPH9","SEC24C","SEMA4D","SLC12A3","SLC25A24","SLC29A3","SLC39A13","SMAD2","SMAD3","SMG8","SMOC1","SPAG1","SPEF2","SRCAP","STK36","TBX1","TCF4","TEK","TMEM260","TTC12","UBE2A","UFD1","UQCRFS1","VEGFC","VHL","WT1","ZIC3","ZMPSTE24","ZMYND10","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DEEP_VENOUS_THROMBOSIS":{"collection":"C5:HPO","systematicName":"M35927","pmid":"","exactSource":"HP:0002625","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002625","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEEP_VENOUS_THROMBOSIS","geneSymbols":["AKT1","ALG6","EPAS1","F13A1","F2","F5","F8","F9","HABP2","MMACHC","MTHFR","MTRR","PIEZO1","PIGA","PMM2","PROC","PROS1","SERPINC1","SERPIND1","THBD","UBA1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RIGHT_AORTIC_ARCH_WITH_MIRROR_IMAGE_BRANCHING":{"collection":"C5:HPO","systematicName":"M35928","pmid":"","exactSource":"HP:0002627","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002627","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RIGHT_AORTIC_ARCH_WITH_MIRROR_IMAGE_BRANCHING","geneSymbols":["CRELD1","DGCR2","DGCR6","DGCR8","ESS2","STRA6","TBX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_VASCULITIS":{"collection":"C5:HPO","systematicName":"M35930","pmid":"","exactSource":"HP:0002633","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002633","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VASCULITIS","geneSymbols":["ACP5","ADA2","ARPC1B","C1QB","C4A","CASP10","CCR1","CD19","CD244","CD81","CFI","CIITA","CR2","CTLA4","DNASE1L3","DOCK8","ERAP1","FAS","FASLG","HCK","HLA-B","HLA-DPA1","HLA-DPB1","HLA-DRB1","ICOS","IFIH1","IFNGR1","IL10","IL12A","IL12A-AS1","IL12B","IL12RB1","IL23R","IRF2BP2","KLRC4","MEFV","MLX","MS4A1","MVK","MYD88","NFKB1","NFKB2","NFKBIL1","NLRP3","NOD2","OTULIN","P4HA2","PGM3","PNP","POLR3F","PRKCD","PRTN3","PTPN22","RASGRP1","SCN10A","SCN11A","SCN9A","SH2D1A","SLC22A4","STAT4","SYK","TLR4","TNFRSF13B","TNFRSF13C","TNFRSF1A","TNFSF12","TREX1","UBAC2","WAS","WIPF1","XIAP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ARTERIOSCLEROSIS":{"collection":"C5:HPO","systematicName":"M35931","pmid":"","exactSource":"HP:0002634","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002634","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ARTERIOSCLEROSIS","geneSymbols":["ABCA1","ABCC6","ABCG5","ABCG8","ACTA2","AGXT","ALMS1","ANGPTL6","ANTXR1","APOA1","APOA2","APOA5","APOB","APOE","ASAH1","BANF1","BRCC3","CAT","CELA2A","CEP19","CETP","COL3A1","CSF2RA","CSF2RB","CYP27A1","CYP7A1","ELN","ENG","ENPP1","EPHX2","ERCC2","ERCC3","ERCC4","ERCC5","ERCC6","ERCC8","ESR1","FBN1","FOXE3","GGCX","GHR","GLB1","GPIHBP1","HEY2","HGD","HLA-DRB1","HTRA1","LCAT","LDLR","LDLRAP1","LIPA","LIPC","LMNA","LOX","LPL","LRP6","MAT2A","MEF2A","MFAP5","MYH11","MYLK","NEU1","NPC1","NPC2","PCSK9","PIK3CG","PNPLA2","PPARG","PPP1R17","PRKG1","SC5D","SERPIND1","SMAD2","SMAD3","SMAD4","SMARCAL1","SMPD1","TGFB2","TGFB3","TGFBR1","TGFBR2","TGFBR3","THSD1","THSD4","TNXB","WRN","XYLT1","XYLT2","ZMPSTE24","ZNF687"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CEREBRAL_ISCHEMIA":{"collection":"C5:HPO","systematicName":"M47063","pmid":"","exactSource":"HP:0002637","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002637","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CEREBRAL_ISCHEMIA","geneSymbols":["ABCC6","ACTA2","ACTB","ACTC1","ACTG1","ACVRL1","ADA2","ADAMTS13","ANGPTL6","APP","BAZ1B","BCL7B","BRAF","BRCC3","BUD23","C4A","CALR","CBS","CCR1","CITED2","CLIP2","COL3A1","COL4A1","COLGALT1","CTLA4","CTNNB1","DNAJC30","EIF4H","ELN","ENG","ENPP1","EPHB4","ERAP1","FAS","FBN1","FKBP6","FOXE3","GATA4","GATA6","GDF2","GLA","GNB2","GTF2I","GTF2IRD1","GTF2IRD2","GUCY1A1","HEY2","HLA-B","HLA-DPA1","HLA-DPB1","HLA-DRB1","HTRA1","IFNGR1","IKBKG","IL10","IL12A","IL12A-AS1","IL12B","IL23R","JAK2","KLRC4","KRAS","LIMK1","LMNA","LOX","MAT2A","MEFV","METTL27","MFAP5","MLX","MLXIPL","MPL","MYBPC3","MYH11","MYH6","MYH7","MYLK","NAGA","NAGS","NCF1","NKX2-5","NOTCH3","NPPA","P4HA2","PIK3C2A","PIK3CA","PRKG1","PRTN3","PTPN22","RASA1","RFC2","RNF213","SCN5A","SCNN1A","SCNN1B","SCNN1G","SH2B3","SLC2A10","SMAD2","SMAD3","SMAD4","SMARCAL1","SON","STAT4","STX1A","TBL2","TBX20","TET2","TGFB2","TGFB3","TGFBR1","TGFBR2","TGFBR3","THPO","THSD1","THSD4","TLL1","TLR4","TMEM270","TP53","UBAC2","VPS37D","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BUDD_CHIARI_SYNDROME":{"collection":"C5:HPO","systematicName":"M35933","pmid":"","exactSource":"HP:0002639","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002639","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BUDD_CHIARI_SYNDROME","geneSymbols":["CD55","F5","JAK2","MPL","PIGA","TERC","TERT","TET2","TINF2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NEONATAL_RESPIRATORY_DISTRESS":{"collection":"C5:HPO","systematicName":"M35935","pmid":"","exactSource":"HP:0002643","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002643","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEONATAL_RESPIRATORY_DISTRESS","geneSymbols":["ABCA3","ABCB11","ABCB4","ALDH1A2","ALDH7A1","ALG14","ARSL","ASCC1","ASXL1","ATP8B1","BIN1","CANT1","CCDC103","CCDC39","CCDC40","CCDC65","CCNO","CFAP221","CFAP298","CFAP300","CFAP74","CHRNG","COG7","COLQ","COX14","COX6A2","CPT2","CSGALNACT1","CUL7","DDX3X","DMPK","DNAAF1","DNAAF11","DNAAF2","DNAAF3","DNAAF4","DNAAF5","DNAAF6","DNAH1","DNAH11","DNAH5","DNAH9","DNAI1","DNAI2","DNAJB13","DNAJC21","DNAL1","DNM1L","DNM2","DPM2","DRC1","DST","ENPP1","FBN1","FGFR3","FOXF1","FOXJ1","GALK1","GAS2L2","GAS8","GLUL","GLYCTK","GMPPA","GNB2","GPC3","GPC4","GRM7","GSC","HACD1","HSD3B2","HYDIN","HYMAI","ITGA3","KAT6A","KIAA0753","KIF22","KNSTRN","LAMB2","LONP1","LRRC56","MADD","MCIDAS","MDFIC","MED12","MLYCD","MT-TT","MTM1","MTMR14","MYF6","MYH3","NALCN","NDUFB10","NEK10","NFASC","NKX2-1","NME5","NME8","NPC2","NPHS1","NR1H4","NSF","NUP214","ODAD1","ODAD2","ODAD3","ODAD4","OFD1","PAX2","PBX1","PDHA1","PEX1","PIK3CD","PLAGL1","PLCB3","PLEC","PLPBP","PTCD3","RALGAPA1","RAPSN","RNF168","RPGR","RSPH1","RSPH3","RSPH4A","RSPH9","RUNX2","RYR1","SBDS","SCN4A","SFTPB","SHPK","SLC27A4","SLC30A9","SMPD4","SNAP25","SNRPB","SOX9","SPAG1","SPEF2","SPOP","SRP54","STK36","SUCLG1","TOR1A","TRAF7","TRIP4","TTC12","UBE3B","WT1","XYLT1","ZC4H2","ZMYND10"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_PELVIC_GIRDLE_BONE_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M35936","pmid":"","exactSource":"HP:0002644","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002644","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PELVIC_GIRDLE_BONE_MORPHOLOGY","geneSymbols":["AARS1","ABCC6","ABCC9","ACP5","ACTA1","ADA","ADAMTS2","ADAMTSL2","AEBP1","AFF3","AFF4","AGRN","AIFM1","AKT1","ALDH18A1","ALG9","AMER1","ANKH","ANKRD11","ANKRD55","ANTXR1","AP3B1","AP4B1","AP4E1","AP4M1","AP4S1","APC","APC2","ARNT2","ARSB","ARSK","ARX","ATAD1","ATAD3A","ATN1","ATP1A3","ATP6V0A2","ATP6V1A","ATP6V1E1","ATP7A","ATR","ATRIP","B2M","B3GALT6","B3GAT3","B3GLCT","BAP1","BAZ1B","BCL7B","BGN","BICD2","BICRA","BIN1","BMP1","BMPER","BMPR1B","BPNT2","BRCA1","BRCA2","BRD4","BRIP1","BUD23","C12orf57","CANT1","CASZ1","CAV1","CBFB","CCBE1","CCDC22","CCDC47","CCDC8","CCN2","CCN6","CCR6","CD247","CD96","CDCA7","CDON","CENPE","CENPJ","CEP120","CEP152","CEP85L","CFAP410","CFL2","CHAT","CHD4","CHRM3","CHRNG","CHST3","CLCN3","CLCN7","CLIP2","CLTCL1","CNOT3","COG1","COG6","COL10A1","COL11A1","COL11A2","COL12A1","COL13A1","COL1A1","COL1A2","COL25A1","COL27A1","COL2A1","COL3A1","COL5A1","COL5A2","COL6A1","COL6A2","COL6A3","COL9A1","COL9A2","COL9A3","COLEC10","COLEC11","COMP","COX8A","CPLX1","CREBBP","CRTAP","CSGALNACT1","CSPP1","CTBP1","CTC1","CTSK","CUL7","DCHS1","DDB1","DDR2","DDRGK1","DHCR7","DHODH","DISP1","DLK1","DLL1","DMP1","DNA2","DNAJC21","DNAJC30","DPYSL5","DSTYK","DVL1","DVL3","DYM","DYNC2H1","DYNC2I1","DYNC2I2","DYNC2LI1","DYNLT2B","EBP","ECEL1","EED","EFEMP2","EIF2AK3","EIF4A3","EIF4H","ELN","ENPP1","EP300","ERCC1","ERCC4","ERCC6","ERCC8","ERGIC1","ERLIN2","EVC","EVC2","EXOC6B","EXOSC3","EXT1","EXT2","EXTL3","EYA1","EZH2","F8","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FARS2","FAT4","FBLN1","FBLN5","FBN1","FBN2","FGF8","FGFR1","FGFR2","FGFR3","FGFRL1","FHL1","FIG4","FKBP10","FKBP6","FKRP","FLI1","FLNA","FLNB","FN1","FOXH1","FRAS1","FREM2","FUT8","FUZ","FZD2","GABRD","GALNS","GARS1","GAS1","GATA1","GDF5","GEMIN4","GET4","GJA1","GJB2","GJB6","GLB1","GLE1","GLI1","GLI2","GLI3","GLRA1","GLRB","GMNN","GMPPB","GNB2","GNPAT","GNPTAB","GNPTG","GNS","GORAB","GPC3","GPC4","GPHN","GPX4","GRIP1","GSC","GTF2I","GTF2IRD1","GTF2IRD2","GUSB","HACD1","HACE1","HDAC4","HDAC6","HDAC8","HEATR3","HERC2","HHAT","HIVEP2","HK1","HLA-B","HLA-DRB1","HNRNPH1","HNRNPK","HNRNPR","HOXA11","HPRT1","HS2ST1","HSPG2","HYAL1","IARS2","IDH1","IDS","IDUA","IFIH1","IFITM5","IFNGR1","IFT140","IFT172","IFT43","IFT52","IFT80","IFT81","IHH","IL2RA","IL2RB","IL6ST","INPP5K","INPPL1","INTU","IPO8","IRF5","IRX5","ITGA7","KANSL1","KAT6B","KCNAB2","KCNK4","KDM3B","KDM6A","KIAA0319L","KIAA0586","KIAA0753","KIF1A","KIF22","KLHL41","KMT2D","LAMA5","LARGE1","LBR","LEMD3","LETM1","LGI3","LGI4","LIFR","LIMK1","LMNA","LMNB2","LMOD3","LMX1B","LONP1","LRP4","LRP5","LTBP1","LUZP1","LYSET","MACF1","MAD2L2","MAGEL2","MAN2B1","MAP3K20","MAP3K7","MASP1","MATN3","MBD5","MBTPS1","MBTPS2","MCTP2","MECOM","MED12","MEG3","METTL27","MKKS","MKRN3","MLXIPL","MMP13","MMP2","MMP23B","MMP9","MRPS25","MTX2","MUSK","MYBPC1","MYH3","MYH7","MYH8","MYL1","MYL11","MYL2","MYO18B","MYO9A","NAA10","NALCN","NANS","NCF1","NDN","NEB","NELFA","NEPRO","NFATC2","NFIX","NGLY1","NIN","NIPBL","NKX3-2","NODAL","NPAP1","NRCAM","NSD1","NSD2","NSDHL","NTRK1","NUP85","NXN","OBSL1","OCA2","OCRL","OGDHL","ORC1","OSGEP","OSTM1","P4HTM","PAFAH1B1","PALB2","PAM16","PCNT","PCYT1A","PDPN","PEPD","PEX5","PGAP2","PGAP3","PHEX","PHF6","PHIP","PI4KA","PIEZO2","PIGA","PIGG","PIGL","PIGN","PIGO","PIGV","PIGW","PIGY","PIK3C2A","PLCB3","PLCH1","PLEKHM1","PLK4","PLOD1","PNPT1","POC1A","POLR1A","POLR3A","POLR3B","POMT1","POMT2","POP1","POR","PORCN","PPP2R1A","PPP2R3C","PPP2R5D","PRDM16","PRDM5","PRG4","PRIM1","PRKACA","PRKACB","PRKCZ","PTCH1","PTEN","PTH1R","PTPN2","PTPN22","PTRH2","PUF60","PWAR1","PWRN1","PYCR1","PYCR2","RAB11B","RAB23","RAB33B","RAD21","RAD51","RAD51C","RBBP8","RBM8A","RECQL4","RERE","RETREG1","RFC2","RFWD3","RINT1","RIPK4","RMRP","RNF13","RNU4ATAC","ROR2","RPS15A","RPS19","RPS6KA3","RSPO2","RSPRY1","RTL1","RUNX2","RYR1","RYR3","SATB2","SBDS","SCN4A","SCN9A","SCYL2","SEC23A","SEC24D","SEC31A","SELENON","SERPINF1","SETBP1","SETD2","SF3B4","SH3PXD2B","SH3TC2","SHH","SHOX","SHPK","SHROOM4","SIK3","SIL1","SIM1","SIX1","SIX3","SKI","SLC10A7","SLC12A2","SLC18A3","SLC25A1","SLC26A2","SLC2A10","SLC35A2","SLC35A3","SLC35D1","SLC39A13","SLC5A7","SLC6A5","SLC6A9","SLX4","SMAD3","SMAD4","SMARCA2","SMARCAL1","SMC1A","SMC3","SMO","SMOC1","SNAP25","SNORD115-1","SNORD116-1","SNRPB","SNRPN","SOST","SOX9","SPARC","SPEG","SPEN","SRCAP","SRP54","STAG2","STAT4","STIL","STX1A","SYT2","TAF1","TBCD","TBL2","TBX15","TBX4","TBXAS1","TCTN3","TDGF1","TELO2","TET3","TFE3","TGFB1","TGFB2","TGFBR2","TGIF1","THOC2","THRA","TIMM22","TMEM270","TMEM53","TMEM67","TNFRSF1A","TNNI2","TNNT1","TNNT3","TONSL","TOR1A","TPM2","TPM3","TRAF3IP1","TRAIP","TRAPPC11","TRAPPC12","TRAPPC2","TRIM8","TRIP11","TRPM3","TRPS1","TRPV4","TTC21B","TTN","TWIST1","TWIST2","UBA1","UBA2","UBE2T","UBE3B","UBE4B","UFSP2","UMPS","UNC45A","UNC80","USP7","USP9X","VAC14","VAMP1","VANGL1","VCP","VDR","VIPAS39","VPS13B","VPS33A","VPS33B","VPS35L","VPS37D","WASHC5","WDR19","WDR26","WDR35","WNK1","WNT3","WNT5A","WNT7A","XRCC2","XYLT1","YWHAE","ZBTB20","ZC4H2","ZIC2","ZIC3","ZMPSTE24","ZNF407","ZNF469"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_WORMIAN_BONES":{"collection":"C5:HPO","systematicName":"M35937","pmid":"","exactSource":"HP:0002645","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002645","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WORMIAN_BONES","geneSymbols":["AFF4","AIFM1","ALDH18A1","ARID2","ATP6V0A2","ATP7A","BCL11B","BMP1","CCDC134","CHD4","COL1A1","COL1A2","CREB3L1","CRTAP","CTSK","DLK1","ELN","FBLN5","FKBP10","FLNA","GORAB","HPGD","HSPG2","IFITM5","KDELR2","KIF1A","LEMD2","LMNA","LRP5","MEG3","MESD","MSX2","NFIX","NOTCH2","NOTCH3","P3H1","P4HB","PAM16","PDGFRB","PLOD2","POGZ","PPIB","PRKG2","PYCR1","RETREG1","RTL1","RUNX2","SCN9A","SEC24D","SETBP1","SH3PXD2B","SMO","SP7","TAPT1","TENT5A","THRA","WNK1","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_AORTIC_DISSECTION":{"collection":"C5:HPO","systematicName":"M35938","pmid":"","exactSource":"HP:0002647","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002647","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AORTIC_DISSECTION","geneSymbols":["ABCC6","ACTA2","ANGPTL6","BGN","COL3A1","ELN","EMILIN1","ENG","ENPP1","FBN1","FOXE3","GATA5","HEY2","HLA-B","HLA-DRB1","IPO8","LOX","MAT2A","MFAP5","MYH11","MYLK","NKX2-5","NOTCH1","P4HA2","PLOD1","PRKG1","PTPN22","ROBO4","SLC2A10","SMAD2","SMAD3","SMAD4","SMAD6","TGFB2","TGFB3","TGFBR1","TGFBR2","TGFBR3","THSD1","THSD4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SPONDYLOEPIMETAPHYSEAL_DYSPLASIA":{"collection":"C5:HPO","systematicName":"M35939","pmid":"","exactSource":"HP:0002651","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002651","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPONDYLOEPIMETAPHYSEAL_DYSPLASIA","geneSymbols":["ACAN","AIFM1","B3GALT6","BGN","COL2A1","DDR2","DDRGK1","DYM","EXOC6B","IARS2","KIF22","MATN3","MMP13","NANS","PAPSS2","RSPRY1","TONSL"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SKELETAL_DYSPLASIA":{"collection":"C5:HPO","systematicName":"M35940","pmid":"","exactSource":"HP:0002652","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002652","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SKELETAL_DYSPLASIA","geneSymbols":["ABCC9","ACAN","ACP5","ACTB","ACTG1","AIFM1","AKT1","ALDH3A2","ALG3","ALG6","ALG9","ANAPC1","ANKH","ANOS1","ARSB","B3GALT6","B4GALT7","BGN","BMPR1B","CANT1","CCDC141","CCN6","CDH3","CDKN1C","CEP120","CFAP410","CHD7","CHST3","COL10A1","COL11A1","COL11A2","COL2A1","COL3A1","COL9A1","COL9A2","COL9A3","COMP","CRTAP","CTSA","CWC27","DCC","DCHS1","DDR2","DDRGK1","DMP1","DNAJC21","DPYD","DUSP6","DYM","DYNC2H1","DYNC2I1","DYNC2I2","DYNC2LI1","EFL1","EIF2AK3","ENPP1","EPCAM","EXOC6B","EXTL3","FAT4","FEZF1","FGF17","FGF8","FGFR1","FGFR3","FLNA","FLNB","FLRT3","FN1","GDF5","GEMIN4","GJA1","GLB1","GLI3","GNAS","GNS","GPX4","HDAC6","HESX1","HS6ST1","HSPA9","HSPG2","IARS2","IDH1","IDUA","IFT140","IFT172","IFT80","IHH","IL17RD","IL6ST","KANSL1","KCNJ8","KIAA0753","KIF22","KIF7","KRAS","LBR","LIFR","LONP1","LRRK1","LTBP3","MAP3K7","MATN3","MBTPS1","MMP13","NANS","NDNF","NEU1","NF1","NKX3-2","NLRP3","NMNAT1","NOTCH2","NPR2","P4HB","PAM16","PAPSS2","PCYT1A","PERCC1","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PEX7","PHYH","PIK3C2A","POLE","POLR1B","POLR1C","POLR1D","POP1","PROK2","PROKR2","PTEN","PTH1R","RECQL4","RMRP","RNU4ATAC","RPL10","RSPRY1","RUNX2","SBDS","SEC23A","SEC24D","SEMA3A","SF3B4","SFRP4","SLC26A2","SLC39A13","SMARCAL1","SMO","SOX10","SPRED1","SPRY4","SRP54","STAC3","TACR3","TBXAS1","TCOF1","TGFB1","TMEM165","TMEM53","TMEM67","TONSL","TRAPPC2","TREM2","TRIP11","TRPV4","TTC21B","TYROBP","UFSP2","VPS33A","WDR11","WDR19","WDR35","XYLT1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BONE_PAIN":{"collection":"C5:HPO","systematicName":"M35941","pmid":"","exactSource":"HP:0002653","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002653","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BONE_PAIN","geneSymbols":["AGXT","AP2S1","ASXL1","ATP7B","BCOR","CBL","CCND1","CDC73","CLCN5","CLCN7","CYP19A1","CYP27B1","CYP2R1","DKK1","DMP1","EHHADH","ELANE","ENPP1","EXT1","FGF23","FIP1L1","FOXE1","GATM","GBA1","GNAS","HABP2","HPGD","IDH1","IDH2","IL1R1","IRF2BP2","KIF1B","KIT","LEMD3","LPIN2","MINPP1","NABP1","NDUFAF6","NOTCH2","NPM1","NUMA1","PHEX","PML","POLE","PRKAR1A","PSAP","PSMB8","PTH1R","PTPN11","RAD21","RARA","RUNX1","SCARB2","SERPINF2","SLC34A1","SLC34A3","SLCO2A1","SNX10","SQSTM1","SRSF2","STAT3","STAT5B","TBL1XR1","TCIRG1","TEK","TET2","TGFB1","TNFRSF11A","TNFRSF1A","TNFSF11","TREM2","TRPS1","TYROBP","VCP","VDR","WNT1","WNT3A","ZBTB16","ZNF687"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MULTIPLE_EPIPHYSEAL_DYSPLASIA":{"collection":"C5:HPO","systematicName":"M35942","pmid":"","exactSource":"HP:0002654","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002654","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MULTIPLE_EPIPHYSEAL_DYSPLASIA","geneSymbols":["COL2A1","COL9A1","EIF2AK3","KIF7","MATN3","PEX7","PHYH","RNU4ATAC","SLC26A2","TRAPPC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SPONDYLOEPIPHYSEAL_DYSPLASIA":{"collection":"C5:HPO","systematicName":"M35943","pmid":"","exactSource":"HP:0002655","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002655","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPONDYLOEPIPHYSEAL_DYSPLASIA","geneSymbols":["ACAN","CCN6","CHST3","COL11A1","COL2A1","IARS2","MBTPS1","NMNAT1","RNU4ATAC","RPL10","SMARCAL1","TRAPPC2","TRPV4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_EPIPHYSEAL_DYSPLASIA":{"collection":"C5:HPO","systematicName":"M35944","pmid":"","exactSource":"HP:0002656","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002656","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EPIPHYSEAL_DYSPLASIA","geneSymbols":["ARSB","B3GALT6","CANT1","CDKN1C","COL11A2","COL2A1","COL9A1","COL9A2","COL9A3","COMP","DPYD","DYM","EIF2AK3","EXTL3","FLNB","GEMIN4","GNS","HSPA9","KIF22","KIF7","LTBP3","MATN3","NPR2","PTH1R","RNU4ATAC","SLC26A2","TMEM165","TRPV4","XYLT1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SPONDYLOMETAPHYSEAL_DYSPLASIA":{"collection":"C5:HPO","systematicName":"M35945","pmid":"","exactSource":"HP:0002657","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002657","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPONDYLOMETAPHYSEAL_DYSPLASIA","geneSymbols":["ACP5","CFAP410","COL2A1","FN1","GPX4","PAM16","PCYT1A","TRIP11","TRPV4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INCREASED_SUSCEPTIBILITY_TO_FRACTURES":{"collection":"C5:HPO","systematicName":"M35946","pmid":"","exactSource":"HP:0002659","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002659","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_SUSCEPTIBILITY_TO_FRACTURES","geneSymbols":["ACTA1","AGA","AGXT","ALPL","ANO5","ANOS1","ANTXR2","ARMC5","ASCC1","ASXL1","ATL1","ATL3","ATP7A","ATP7B","B2M","B3GALT6","B3GAT3","B4GALT7","BANF1","BMP1","BRAF","CA2","CASR","CBL","CBS","CCDC134","CCDC141","CCND1","CDKN1A","CDKN1B","CDKN2B","CDKN2C","CHD7","CHEK2","CHRNA1","CHRND","CHRNG","CHST3","CLCN5","CLCN7","CLTCL1","COL1A1","COL1A2","COL2A1","COPB2","CREB3L1","CRTAP","CTC1","CTNNB1","CTNND2","CTSK","CYP27A1","CYP27B1","CYP2R1","DCC","DKC1","DKK1","DUSP6","EFEMP2","EHHADH","ELP1","FBLN5","FEZF1","FGF17","FGF8","FGFR1","FKBP10","FLRT3","FN1","FOXE1","FZD4","GATM","GBA1","GK","GLE1","GNAS","GNPTAB","GORAB","HABP2","HBB","HESX1","HNRNPA1","HNRNPA2B1","HRAS","HS6ST1","IDH1","IDH2","IER3IP1","IFITM5","IL17RD","IL6ST","IRX5","KCNJ6","KDELR2","KIF1A","KIT","KLHL40","KLHL41","KRAS","LBR","LIFR","LMOD3","LPIN2","LRP5","LTBP1","MBTPS2","MEN1","MESD","MET","MINPP1","MMP14","MMP2","MOGS","MPV17","MTAP","MYH3","NDNF","NDUFAF6","NEB","NFIX","NGF","NGLY1","NHERF1","NHP2","NOP10","NOTCH2","NPM1","NRAS","NTRK1","OCRL","P3H1","P4HB","PANK2","PARN","PDGFRB","PLEKHM1","PLOD2","PLOD3","POT1","PPIB","PRDM5","PROK2","PROKR2","PTEN","PTH1R","PYCR1","RB1","RECQL4","RETREG1","RIN2","RRM2B","RTEL1","RUNX1","RUNX2","SATB2","SC5D","SCARB2","SCN9A","SEC24D","SEMA3A","SEMA5A","SERPINF1","SGMS2","SLC29A3","SLC34A1","SLC34A3","SLC37A4","SLC4A1","SLC4A2","SLC7A7","SMPD1","SMS","SNX10","SOX10","SOX9","SP7","SPARC","SPRY4","SPTLC1","SPTLC2","SQSTM1","SRSF2","STAT3","TACR3","TAPT1","TBCD","TCIRG1","TENT5A","TERC","TERT","TET2","TIMM8A","TINF2","TMEM38B","TNFRSF11A","TNFRSF11B","TNFSF11","TP53","TPM3","TREM2","TRIP11","TRIP4","TRPV6","TYMS","TYROBP","UNC45A","UROS","USB1","VCP","VDR","WDR11","WNK1","WNT1","WNT3A","WRAP53","YY1AP1","ZFHX2","ZNF469","ZNF687"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PAINLESS_FRACTURES_DUE_TO_INJURY":{"collection":"C5:HPO","systematicName":"M35947","pmid":"","exactSource":"HP:0002661","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002661","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PAINLESS_FRACTURES_DUE_TO_INJURY","geneSymbols":["KIF1A","MPV17","NGF","NTRK1","RETREG1","SCN9A","WNK1","ZFHX2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DELAYED_EPIPHYSEAL_OSSIFICATION":{"collection":"C5:HPO","systematicName":"M35948","pmid":"","exactSource":"HP:0002663","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002663","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DELAYED_EPIPHYSEAL_OSSIFICATION","geneSymbols":["B3GALT6","CLCN5","COL2A1","COL9A3","COMP","CYP19A1","CYP27B1","CYP2R1","DDRGK1","DUOX2","DUOXA2","ESR1","FGFR2","GPX4","HESX1","IARS2","IYD","KCNH1","KIF22","KIF7","LHX3","LHX4","MATN3","MIR140","PAM16","PISD","POU1F1","PROP1","PTH1R","RNU4ATAC","SLC34A3","SLC5A5","SOX9","TG","TONSL","TPO","TRPV4","TSHB","TSHR","VDR"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NEOPLASM":{"collection":"C5:HPO","systematicName":"M35949","pmid":"","exactSource":"HP:0002664","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002664","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM","geneSymbols":["AAGAB","AARS1","ABCA5","ABCC6","ABCD1","ABL1","ACAN","ACD","ACP5","ACTB","ACTG2","ACVR1","ACVR1B","ACVRL1","ADA","ADA2","ADAMTS3","ADAR","ADH5","AGGF1","AIP","AKT1","ALAD","ALG5","ALG9","ALK","ALX1","ALX3","ALX4","ANAPC1","ANGPT2","ANTXR1","ANTXR2","AP2S1","AP3D1","APC","APC2","AR","ARHGAP26","ARID1A","ARID1B","ARID2","ARL6IP6","ARMC5","ASCC1","ASCL1","ASPSCR1","ASXL1","ATM","ATP2A2","ATP2B1","ATP6V1B2","ATP7A","ATR","ATRX","AURKA","AXIN2","B3GALT6","BAP1","BARD1","BAX","BCHE","BCL10","BCL2","BCL6","BCR","BDNF","BICC1","BIN1","BIRC3","BLM","BLNK","BMPER","BMPR1A","BMPR1B","BRAF","BRCA1","BRCA2","BRD4","BRIP1","BTK","BUB1","BUB1B","BUB3","C1S","C2CD3","CACNA1S","CALR","CARD14","CARMIL2","CARS1","CASP10","CASP8","CASR","CASZ1","CAT","CBL","CCBE1","CCDC22","CCL2","CCM2","CCND1","CD19","CD27","CD28","CD4","CD70","CD79A","CD79B","CD81","CD96","CDC73","CDH1","CDH23","CDK4","CDKN1A","CDKN1B","CDKN1C","CDKN2A","CDKN2B","CDKN2C","CDON","CEBPA","CEP120","CEP57","CHD7","CHEK2","CHIC2","CHMP2B","CHRNG","CIB1","CLCN2","CLCNKB","CLPB","COG1","COL11A2","COL14A1","COL17A1","COL1A1","COL2A1","COL4A5","COL4A6","COL7A1","COQ6","CPLANE1","CPLX1","CR2","CREB1","CREBBP","CRKL","CSF3R","CTBP1","CTC1","CTHRC1","CTLA4","CTNNB1","CTPS1","CTRC","CTSA","CTSC","CXCR4","CYLD","CYP11B1","CYP11B2","CYP26C1","CYP2A6","CYP2D6","CYSLTR2","DAXX","DCC","DCLRE1C","DDB2","DDR2","DDX41","DDX59","DEF6","DHCR24","DHCR7","DHH","DHX37","DIAPH1","DICER1","DIS3L2","DISP1","DKC1","DLC1","DLEC1","DLK1","DLL1","DLST","DMRT3","DNAJB11","DNAJC21","DNASE1L3","DNM2","DNMT3A","DOCK8","DPF2","DPM1","DPYSL5","DUT","DVL1","DVL3","DYNC2H1","DYNC2LI1","DZIP1L","ECE1","ECM1","EDN1","EDN3","EDNRB","EFL1","EGFR","EIF2AK4","EIF3F","ELANE","ELMO2","ELP1","ENG","ENPP1","EP300","EPAS1","EPCAM","EPHB2","EPHB4","ERBB2","ERBB3","ERCC2","ERCC3","ERCC4","ERCC5","ERCC6","ESCO2","ESR1","ETV6","EVC","EVC2","EWSR1","EXT1","EXT2","EXTL3","EYA1","F13A1","F13B","FAM149B1","FAM20A","FAM20C","FAN1","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FAS","FASLG","FAT4","FBXO28","FCHO1","FCN3","FDPS","FERMT1","FGF3","FGF8","FGFR1","FGFR2","FGFR3","FGFRL1","FH","FIBP","FLCN","FLI1","FLNA","FLT3","FLT4","FOCAD","FOXC2","FOXE1","FOXH1","FOXI1","FOXO1","FOXP1","FUZ","FZD2","GABRD","GANAB","GAS1","GATA1","GATA2","GATA4","GBA1","GCDH","GCGR","GCM2","GDF2","GDF5","GDNF","GFI1","GINS1","GJA1","GJB2","GJB3","GJB4","GJB6","GJC2","GLI1","GLI2","GLI3","GNA11","GNA14","GNAI3","GNAQ","GNAS","GNB1","GNPTAB","GPC3","GPC4","GPC6","GPR101","GPR143","GPR161","GREM1","GRN","GTF2E2","GTF2H5","H19","H4C5","H4C9","HABP2","HACE1","HAVCR2","HAX1","HDAC4","HEATR3","HEPACAM","HLA-DQA1","HLA-DQB1","HLA-DRB1","HMMR","HNF1A","HNF1B","HOXD13","HPGD","HRAS","HS2ST1","HSCB","HSPA9","HSPG2","ICOS","IDH1","IDH2","IFIH1","IFNG","IFT140","IGF2","IGHG2","IGHM","IGKC","IGLL1","IKBKG","IKZF1","IKZF3","IL2RG","IL6","IL6ST","IL7","IL7R","ING1","INTU","IPO8","IRF1","IRF2BP2","ITK","IVNS1ABP","JAG1","JAK2","KANSL1","KARS1","KAT6B","KCNAB2","KCNE3","KCNH1","KCNJ10","KCNJ11","KCNMA1","KCNN3","KCNQ1","KCNQ1OT1","KCTD1","KDM6B","KDR","KDSR","KEAP1","KIAA0586","KIAA0753","KIF11","KIF1B","KIF7","KIT","KLF6","KLHDC8B","KLLN","KRAS","KRIT1","KRT1","KRT10","KRT14","KRT16","KRT17","KRT5","KRT6A","KRT6B","L2HGDH","LAMA3","LAMB3","LAMC2","LBX1","LEMD3","LETM1","LIG4","LIN28B","LMNA","LMO1","LMOD1","LPP","LRBA","LRP1","LRRC8A","LSM11","LUZP1","LZTR1","LZTS1","MAD1L1","MAD2L2","MAFA","MAGT1","MALT1","MAN2C1","MAP2K1","MAP2K2","MAP3K1","MAP3K8","MAPK1","MAPRE2","MAPT","MAX","MBD4","MBTPS2","MC1R","MC2R","MCC","MCM4","MDH2","MDM2","MDM4","MEFV","MEG3","MEN1","MET","MFN2","MGAT2","MGMT","MINPP1","MITF","MLH1","MLH3","MLLT10","MMP1","MMP23B","MN1","MNX1","MPL","MPLKIP","MRAP","MRE11","MS4A1","MSH2","MSH3","MSH6","MSL3","MSR1","MST1R","MSTO1","MSX2","MT-ND5","MT-RNR1","MT-TF","MT-TH","MT-TK","MT-TL1","MT-TP","MT-TQ","MT-TS1","MT-TS2","MTAP","MTMR14","MTOR","MUC5B","MUTYH","MVD","MVK","MXI1","MYC","MYCN","MYD88","MYF6","MYH11","MYH8","MYLK","MYO1H","MYSM1","NAB2","NAF1","NAGS","NBEAL2","NBN","NDP","NDUFAF6","NEK1","NEK9","NELFA","NF1","NF2","NFATC2","NFIX","NFKB1","NFKB2","NHP2","NKX2-1","NLRP1","NNT","NOD2","NODAL","NOP10","NOTCH1","NOTCH3","NPM1","NQO2","NR0B1","NR3C1","NR4A3","NR5A1","NRAS","NRTN","NSD1","NSD2","NSUN2","NTHL1","NUMA1","NUP214","NUTM1","OCA2","OCRL","OFD1","OGG1","OPCML","PALB2","PALLD","PARN","PAX3","PAX6","PAX7","PBRM1","PCNA","PDCD10","PDE11A","PDE6D","PDGFB","PDGFRA","PDGFRB","PDGFRL","PDPN","PERP","PGM3","PHB1","PHF21A","PHOX2B","PICALM","PIEZO1","PIGG","PIGL","PIK3CA","PIK3CD","PIK3R1","PKD1","PKD2","PKHD1","PLA2G2A","PLAG1","PLCB4","PLCD1","PMS1","PMS2","PNP","POFUT1","POGLUT1","POLD1","POLE","POLH","POLR1B","POLR1C","POLR1D","POR","PORCN","POT1","POU6F2","PPM1D","PPP1CB","PPP2R1B","PRCC","PRDM16","PRF1","PRKACA","PRKACB","PRKAR1A","PRKCD","PRKCZ","PRKN","PRLR","PSEN1","PSENEN","PTCH1","PTCH2","PTEN","PTH1R","PTPN11","PTPN12","PTPRC","PTPRJ","PUF60","RABL3","RAD21","RAD50","RAD51","RAD51C","RAD51D","RAD54B","RAD54L","RAF1","RAG1","RAG2","RARA","RASA1","RASGRP1","RB1","RB1CC1","RBM8A","RECQL4","RELA","RERE","REST","RET","RFWD3","RHBDF2","RHOH","RMRP","RNASEH2A","RNASEH2B","RNASEH2C","RNASEL","RNF113A","RNF139","RNF43","RNF6","RNU7-1","RPA1","RPL10","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS14","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS7","RRAS2","RSPO1","RSPRY1","RTEL1","RTL1","RUNX1","RYR1","SAMD9","SAMD9L","SAMHD1","SASH1","SASH3","SBDS","SCN10A","SCN11A","SCN4A","SCN9A","SDHA","SDHAF2","SDHB","SDHC","SDHD","SEC23A","SEC23B","SEMA3C","SEMA3D","SEMA4A","SETBP1","SETD2","SF3B1","SFTPA2","SFTPC","SH2B3","SH2D1A","SH3GL1","SHH","SHOC2","SHOX","SIX1","SIX3","SIX6","SKI","SKIC2","SKIC3","SLC12A3","SLC17A9","SLC22A18","SLC25A11","SLC26A2","SLC26A4","SLC37A4","SLC39A7","SLC45A2","SLC6A17","SLCO2A1","SLX4","SMAD4","SMARCA4","SMARCAD1","SMARCAL1","SMARCB1","SMARCC2","SMARCD1","SMARCD2","SMARCE1","SMO","SMPD1","SNAI2","SOCS1","SOS1","SOX11","SOX2","SOX4","SOX6","SOX9","SPEN","SPI1","SPINK1","SPRED1","SPTBN1","SQSTM1","SRC","SRD5A3","SREBF1","SRGAP1","SRP19","SRP54","SRP72","SRSF2","SRY","SSX2","STAC3","STAG3","STAR","STAT1","STAT3","STAT6","STIM1","STK11","STK4","STS","SUFU","SYK","TAF1","TAF15","TAL1","TAL2","TARS1","TBC1D24","TBX2","TBXT","TCF3","TCF4","TCIRG1","TCOF1","TCTN3","TDGF1","TEK","TERC","TERF2IP","TERT","TET2","TFAP2A","TFE3","TG","TGFBR1","TGFBR2","TGIF1","THPO","THSD1","TIAM1","TINF2","TLR2","TMC6","TMC8","TMEM106B","TMEM107","TMEM127","TMEM216","TMEM231","TNFRSF10B","TNFRSF13B","TNFRSF13C","TNFRSF1B","TNFRSF4","TNFRSF9","TNFSF12","TOM1","TOP2A","TOPORS","TP53","TP63","TPP2","TRAF7","TREM2","TREX1","TRIM28","TRIM37","TRIP13","TRPM3","TRPS1","TRPV3","TSC1","TSC2","TSR2","TTC7A","TUBB","TWIST1","TXNRD2","TYMS","TYR","TYROBP","UBA1","UBE2T","UBE4B","UROS","USB1","USF3","USP48","USP8","USP9X","VAMP7","VANGL1","VANGL2","VCP","VHL","VPS16","VPS35L","WAS","WASHC5","WDPCP","WIPF1","WNT10A","WNT5A","WRAP53","WRN","WT1","WWOX","XIAP","XPA","XPC","XRCC2","XRCC3","XRCC4","YY1","ZAP70","ZFHX3","ZFPM2","ZFTA","ZIC2","ZNRF3","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LYMPHOMA":{"collection":"C5:HPO","systematicName":"M35950","pmid":"","exactSource":"HP:0002665","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002665","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LYMPHOMA","geneSymbols":["AAGAB","ADA","APC","ASXL1","ATM","BCL10","BCL2","BCL6","BIRC3","BLM","CASP10","CCND1","CD19","CD27","CD28","CD70","CD81","CDKN2A","CHD7","CHEK2","COL14A1","CR2","CTC1","CTLA4","DCLRE1C","DDX41","DEF6","DIAPH1","DKC1","DNASE1L3","FAS","FASLG","FCHO1","FOXP1","HAVCR2","HLA-DQA1","HLA-DQB1","HLA-DRB1","ICOS","IGHG2","IGKC","IKZF3","IL2RG","IL6ST","IL7R","IRF2BP2","ITK","KIF11","KIT","KLHDC8B","KRAS","LIG4","LRBA","MAGT1","MALT1","MDM2","MLH1","MS4A1","MSH6","MYC","MYD88","NBN","NFATC2","NFKB1","NFKB2","NHP2","NOP10","NPM1","NRAS","NSUN2","NTHL1","PARN","PGM3","PIK3CD","PIK3R1","PMS2","PNP","POLE","PRF1","PRKCD","PTEN","PTPRC","RAD54B","RAD54L","RAG1","RAG2","RASGRP1","RB1","RECQL4","RHOH","RMRP","RNF43","RTEL1","RUNX1","SH2D1A","SMARCAL1","SOCS1","SRSF2","STAT3","STK4","SYK","TCF4","TERC","TERT","TET2","TINF2","TNFRSF13B","TNFRSF13C","TNFRSF1B","TNFRSF9","TNFSF12","TP53","TP63","TTC7A","TYMS","USB1","WAS","WIPF1","WRAP53","XIAP","XRCC4","ZAP70"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PHEOCHROMOCYTOMA":{"collection":"C5:HPO","systematicName":"M35951","pmid":"","exactSource":"HP:0002666","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002666","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PHEOCHROMOCYTOMA","geneSymbols":["CCND1","CDKN1A","CDKN1B","CDKN2B","CDKN2C","DLST","DNMT3A","EPAS1","FH","HRAS","IFNG","KIF1B","MAX","MDH2","MEN1","NF1","PRKAR1A","RET","SDHA","SDHAF2","SDHB","SDHC","SDHD","SLC25A11","TMEM127","TSC1","TSC2","VHL"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NEPHROBLASTOMA":{"collection":"C5:HPO","systematicName":"M47064","pmid":"","exactSource":"HP:0002667","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002667","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEPHROBLASTOMA","geneSymbols":["ALX4","ASXL1","BLM","BRCA2","BUB1","BUB1B","BUB3","C1S","CDC73","CDKN1C","CEP57","DHX37","DICER1","DIS3L2","DMRT3","EXT2","FIBP","GATA4","GPC3","GPC4","H19","HDAC4","HRAS","IGF2","KCNQ1","KCNQ1OT1","MAP3K1","NR0B1","NR5A1","PALB2","PAX6","PHF21A","PIK3CA","POU6F2","PTCH1","REST","SETBP1","SOX9","SPRED1","SRY","TP53","TRIM28","TRIM37","TRIP13","VAMP7","WT1","WWOX","ZFPM2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_OSTEOSARCOMA":{"collection":"C5:HPO","systematicName":"M35953","pmid":"","exactSource":"HP:0002669","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002669","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OSTEOSARCOMA","geneSymbols":["ADA2","ANAPC1","CDKN2A","CHEK2","GATA1","HEATR3","LMNA","MDM2","MTAP","RB1","RECQL4","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS7","SQSTM1","TP53","TSR2","WRN"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BASAL_CELL_CARCINOMA":{"collection":"C5:HPO","systematicName":"M35954","pmid":"","exactSource":"HP:0002671","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002671","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BASAL_CELL_CARCINOMA","geneSymbols":["AAGAB","ANAPC1","APC","BMPR1A","CASP10","CIB1","COL14A1","COL17A1","COL7A1","CYLD","DDB2","DICER1","EPCAM","ERCC2","ERCC3","ERCC4","ERCC5","FAN1","FAS","FASLG","FOXE1","HRAS","KEAP1","KRAS","LMNA","MC1R","MLH1","MLH3","MMP1","MSH2","MSH6","NRAS","NTHL1","OCA2","PIK3CA","PMS1","PMS2","POLH","PRKCD","PTCH1","PTCH2","RASA1","RASGRP1","RECQL4","RMRP","RPS19","RPS20","SEMA4A","SMO","SUFU","TGFBR2","TMC6","TYMS","TYR","WNT10A","XPC"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_GASTROINTESTINAL_CARCINOMA":{"collection":"C5:HPO","systematicName":"M35955","pmid":"","exactSource":"HP:0002672","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002672","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GASTROINTESTINAL_CARCINOMA","geneSymbols":["AAGAB","ADA2","AKT1","APC","AURKA","AXIN2","BAX","BMPR1A","BRAF","BUB1","BUB1B","CCND1","CHEK2","COL14A1","CTNNB1","DCC","DLC1","EP300","EPCAM","FGFR3","FLCN","GATA1","GPR35","GREM1","HEATR3","MAD1L1","MCC","MLH1","MLH3","MSH2","MSH6","MST1","MUTYH","NRAS","NTHL1","PDGFRL","PIK3CA","PLA2G2A","PMS2","POLD1","POLE","PTPN12","PTPRJ","RAD54B","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS7","SEMA4D","SMAD4","SRC","STK11","TCF4","TGFBR2","TLR2","TP53","TSR2","WRN"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_COXA_VALGA":{"collection":"C5:HPO","systematicName":"M35956","pmid":"","exactSource":"HP:0002673","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002673","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_COXA_VALGA","geneSymbols":["ABCC9","ADAMTS2","ADAMTSL2","AFF3","ARCN1","ARID1B","ATP7A","ATRX","B3GALT6","B4GALT7","BCR","BGN","CANT1","CBFB","CCDC47","COG1","COG4","COG8","COL11A1","COL1A1","COL1A2","COL2A1","COL9A1","COL9A2","COL9A3","CRKL","CSGALNACT1","DLK1","DVL1","DVL3","EED","EIF2AK3","ENPP1","ERCC6","EXT1","EXT2","EXTL3","EZH2","FLNA","FUCA1","FZD2","GALNS","GJB2","GJB6","GLB1","GLI3","GNPTAB","GTF2E2","HNRNPH1","HNRNPK","HNRNPR","HSPG2","IDUA","IFIH1","INPP5K","KCNJ8","KDELR2","LMNA","LMX1B","MAN2B1","MAPK1","MEG3","MGAT2","NFIX","NGLY1","NRCAM","ORC1","OTUD5","PDE4D","POP1","RAB23","RBM8A","RPS6KA3","RTL1","SHOX","SIL1","SLC10A7","SLC12A2","SLC2A10","SLC35A2","SLC35B2","STXBP1","TGFB1","TGFB3","TRIP11","UBE3C","UFC1","WNT5A","XYLT1","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CLOVERLEAF_SKULL":{"collection":"C5:HPO","systematicName":"M35957","pmid":"","exactSource":"HP:0002676","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002676","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CLOVERLEAF_SKULL","geneSymbols":["EXTL3","FGFR1","FGFR2","FGFR3","MEGF8","POR","RAB23","WDR35"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SMALL_FORAMEN_MAGNUM":{"collection":"C5:HPO","systematicName":"M45403","pmid":"","exactSource":"HP:0002677","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002677","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SMALL_FORAMEN_MAGNUM","geneSymbols":["ALDH18A1","CHD4","ELN","FBLN5","FGFR3","FLNB","HNRNPH1","IARS2","INPPL1","LBR","RSPRY1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SKULL_ASYMMETRY":{"collection":"C5:HPO","systematicName":"M35958","pmid":"","exactSource":"HP:0002678","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002678","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SKULL_ASYMMETRY","geneSymbols":["COLEC11","FGFR2","FTO","MASP1","RAD21","RSPRY1","TWIST1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_SELLA_TURCICA_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M35959","pmid":"","exactSource":"HP:0002679","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002679","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SELLA_TURCICA_MORPHOLOGY","geneSymbols":["ABCC9","ADAMTSL2","ALDH18A1","ATRX","BMP4","BRAF","CDH11","CDH23","DYM","FLNA","GLB1","GNPTAB","GUSB","IDUA","LHX4","MAF","MAN2B1","MTX2","NAA10","NKX2-1","NOTCH2","NR3C1","OBSL1","PCNT","PLOD3","POP1","PTCH1","RMRP","SLC17A5","SOST","STUB1","TBC1D2B","TP53","TRIM37","TSHB","USP48","USP8","VPS33A","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_J_SHAPED_SELLA_TURCICA":{"collection":"C5:HPO","systematicName":"M35960","pmid":"","exactSource":"HP:0002680","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002680","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_J_SHAPED_SELLA_TURCICA","geneSymbols":["ADAMTSL2","GNPTAB","GUSB","IDUA","MAF","MTX2","OBSL1","PLOD3","POP1","RMRP","SLC17A5","TRIM37","VPS33A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DEFORMED_SELLA_TURCICA":{"collection":"C5:HPO","systematicName":"M35961","pmid":"","exactSource":"HP:0002681","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002681","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEFORMED_SELLA_TURCICA","geneSymbols":["ADAMTSL2","ALDH18A1","DYM","FLNA","GNPTAB","GUSB","IDUA","MAF","MTX2","NOTCH2","OBSL1","PLOD3","POP1","PTCH1","RMRP","SLC17A5","TRIM37","VPS33A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CALVARIA_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M35962","pmid":"","exactSource":"HP:0002683","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002683","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CALVARIA_MORPHOLOGY","geneSymbols":["AARS1","AASS","ABL1","ACAN","ACOX1","ACP5","ACTB","ACTG1","ADAMTS10","ADAMTS3","ADAMTSL1","ADAR","ADARB1","ADAT3","ADH5","ADK","ADNP","ADSL","AFF4","AGA","AGO2","AHDC1","AHI1","AIP","AKT1","AKT3","ALDH18A1","ALDH6A1","ALG12","ALG14","ALG9","ALMS1","ALPL","ALX1","ALX4","AMER1","ANKH","ANKRD11","ANKRD17","ANTXR1","AP1G1","AP1S2","APC","APC2","ARCN1","ARHGAP31","ARHGEF9","ARID1B","ARID2","ARL13B","ARL3","ARMC9","ARSB","ARVCF","ARX","ASH1L","ASPM","ASXL1","ASXL3","ATAD3A","ATIC","ATP2B1","ATP6V0A2","ATP6V1B2","ATP7A","ATR","ATRIP","ATRX","AUTS2","B3GALT6","B3GAT3","B3GLCT","B4GALT7","B9D1","B9D2","BAP1","BGN","BICRA","BLM","BLTP1","BMP4","BMPR1A","BMS1","BPNT2","BRAF","BRCA1","BRCA2","BRD4","BRIP1","BRWD3","BUB1","BUB1B","BUB3","C12orf57","C2CD3","CA2","CACNA1C","CACNA2D1","CAMK2A","CAMKMT","CARS1","CASK","CASZ1","CBFB","CBL","CBY1","CC2D2A","CCBE1","CCDC22","CCDC47","CCDC8","CCNQ","CD19","CD81","CD96","CDC42BPB","CDC45","CDC6","CDH11","CDH2","CDK10","CDK13","CDKN1C","CDT1","CENPE","CENPJ","CEP104","CEP120","CEP152","CEP290","CEP41","CEP57","CHAMP1","CHD1","CHD3","CHD4","CHD5","CHN1","CHRNA7","CHRNG","CHST14","CHST3","CHSY1","CHUK","CILK1","CITED2","CKAP2L","CLCN3","CLCN7","CNOT1","CNOT3","CNTN1","CNTNAP1","COG4","COL11A1","COL11A2","COL18A1","COL1A1","COL1A2","COL25A1","COL2A1","COL5A1","COL9A2","COLEC10","COLEC11","COMT","COX4I1","COX4I2","COX5A","CPLANE1","CPLX1","CR2","CREB3L1","CREBBP","CRIPT","CRPPA","CRTAP","CSGALNACT1","CSPP1","CTBP1","CTCF","CTNNB1","CTNS","CTSK","CTU2","CUL4B","CUL7","CUX1","CWC27","CYFIP2","CYP26B1","CYP27B1","CYP2R1","D2HGDH","DDB2","DDR2","DDX3X","DDX59","DDX6","DEAF1","DENND5A","DHCR24","DHCR7","DHX37","DICER1","DIS3L2","DLK1","DLL3","DLL4","DLX3","DLX5","DMP1","DMXL2","DNA2","DNMT3A","DOCK6","DONSON","DPF2","DPH1","DPH2","DPM1","DPM2","DPYS","DPYSL5","DSE","DVL1","DVL3","DYM","DYNC1H1","DYNC2H1","DYNC2I1","DYNC2I2","EBF3","EBP","EDA","EDA2R","EDAR","EDARADD","EFNB1","EFTUD2","EHMT1","EIF5A","EMC10","EML1","ENPP1","EOGT","EP300","EPB41","EPB41L1","ERCC2","ERCC3","ERCC4","ERCC5","ERCC6","ERCC8","ERF","ERGIC1","ERMARD","ESCO2","EXOC6B","EXOC8","EXT2","EXTL3","EZH2","FAM149B1","FAM20C","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FAT4","FBN1","FBN2","FBXL4","FBXO11","FERMT1","FGF9","FGFR1","FGFR2","FGFR3","FGFRL1","FH","FHL1","FIG4","FKBP10","FKTN","FLCN","FLI1","FLII","FLNA","FLNB","FLT4","FMR1","FOCAD","FOXF1","FOXP2","FRAS1","FREM1","FREM2","FRMPD4","FTO","FUCA1","FZD2","GABRD","GALNT2","GATA1","GATA4","GATA5","GATA6","GATAD2B","GBA1","GDF1","GDF11","GET4","GJA1","GJA5","GJA8","GK","GLB1","GLI3","GLIS3","GMNN","GNAS","GNB2","GNE","GNPTAB","GNS","GOLGA2","GP1BB","GPC3","GPC4","GPC6","GPR101","GPX4","GRB10","GRIA1","GRIA3","GRIN1","GRIP1","GTF2E2","GTF2H5","GYPC","H3-3A","H3-3B","H4C5","H4C9","HBA1","HBA2","HBB","HCFC1","HDAC4","HDAC6","HDAC8","HECTD4","HEPACAM","HEPHL1","HERC1","HERC2","HES7","HGSNAT","HIRA","HK1","HMGA2","HNRNPA1","HNRNPA2B1","HNRNPH1","HNRNPK","HNRNPR","HNRNPU","HOXD13","HPGD","HRAS","HSD17B4","HSPA9","HSPG2","HUWE1","HYLS1","HYMAI","ICOS","IDS","IDUA","IFIH1","IFT122","IFT140","IFT43","IFT52","IFT74","IFT80","IFT81","IGF2","IKBKG","IL11RA","IL6ST","INPP5E","INPPL1","INTS1","INTU","IPO8","IQSEC2","IRF2BP2","IRX5","ITCH","ITGB4","JAG1","JARID2","JMJD1C","KANSL1","KAT6A","KAT6B","KATNB1","KATNIP","KCNAB2","KCNH1","KCNJ1","KCNJ2","KCNJ5","KCNK9","KCNQ1","KCNQ1OT1","KCTD1","KDM1A","KDM4B","KDM5B","KDM6B","KDR","KIAA0586","KIAA0753","KIDINS220","KIF11","KIF15","KIF1A","KIF21A","KIF7","KIT","KLF1","KMT2A","KMT2B","KMT2C","KMT2D","KMT2E","KNSTRN","KPTN","KRAS","KRT14","KRT5","KYNU","LAMA5","LARS1","LBR","LEMD3","LETM1","LFNG","LIFR","LIG4","LMNB1","LMNB2","LMX1B","LONP1","LRP4","LRP5","LRPPRC","LSM11","LTBP1","LTBP4","LUZP1","MAD2L2","MADD","MAF","MAFB","MAGEL2","MAN1B1","MAN2B1","MAP2K1","MAP2K2","MAP3K7","MAPK1","MASP1","MBD5","MBTPS2","MCOLN1","MCTP2","MECP2","MED12","MED13L","MED27","MEG3","MEGF8","MEIS2","MEN1","MESD","MESP2","METTL23","MGAT2","MID1","MITF","MKRN3","MKS1","MMP14","MMP2","MMP23B","MN1","MOCS1","MOCS2","MOGS","MPDU1","MPDZ","MPLKIP","MS4A1","MSL3","MSX2","MTHFR","MTM1","MTOR","MTX2","MVK","MYCN","MYH3","MYMK","MYSM1","NAA10","NAA20","NAGLU","NALCN","NANS","NBAS","NCAPG2","NDE1","NEDD4L","NEK1","NELFA","NEPRO","NEU1","NFIA","NFIX","NFKB1","NFKB2","NFKBIA","NGLY1","NIPBL","NKX2-5","NKX2-6","NLGN4X","NLRP3","NONO","NOTCH1","NOTCH2","NOTCH3","NOVA2","NPAP1","NPHP1","NPR2","NRAS","NRCAM","NSD1","NSD2","NSUN2","NTNG2","NUP188","NUP85","NXN","OBSL1","OCA2","OCRL","OFD1","OGDHL","OPHN1","ORC1","ORC4","ORC6","OSGEP","OSTM1","OTUD5","OTUD6B","P3H1","P4HB","PAFAH1B1","PAICS","PAK1","PAK2","PALB2","PAM16","PCDHGC4","PCGF2","PCLO","PCNT","PDE4D","PDE6D","PDGFRB","PDHA1","PDHB","PDHX","PDPN","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PEX7","PGAP2","PGAP3","PHEX","PHF21A","PHF6","PHOX2A","PI4KA","PIBF1","PIGA","PIGG","PIGL","PIGN","PIGO","PIGQ","PIGT","PIGV","PIGW","PIGY","PIK3CA","PIK3CD","PIK3R1","PIK3R2","PKDCC","PLA2G6","PLAG1","PLAGL1","PLCH1","PLEC","PLEKHM1","PLK4","PLOD1","PNPLA6","POGZ","POLA1","POLE","POLR1B","POLR1C","POLR1D","POLR2A","POLR3A","POR","POU1F1","PPIB","PPM1B","PPM1D","PPP1CB","PPP1R12A","PPP1R21","PPP2CA","PPP2R1A","PPP2R5D","PPP3CA","PQBP1","PRDM16","PREPL","PRIM1","PRKAR1A","PRKAR1B","PRKCD","PRKCZ","PRKD1","PRMT7","PRPS1","PRUNE1","PSAT1","PSMC1","PTCH1","PTCH2","PTDSS1","PTEN","PTH1R","PTHLH","PTPN11","PTRH2","PURA","PWAR1","PWRN1","PYCR1","RAB18","RAB23","RAB39B","RAB3GAP1","RAB3GAP2","RAC1","RAC3","RAD21","RAD51","RAD51C","RAF1","RAI1","RALGAPA1","RB1","RBBP8","RBM8A","RBPJ","RECQL4","RELN","RERE","RFWD3","RFX7","RHOBTB2","RIPPLY2","RMRP","RNASEH2A","RNASEH2B","RNASEH2C","RNF113A","RNF135","RNF216","RNPC3","RNU12","RNU4ATAC","RNU7-1","ROBO3","ROR2","RPGRIP1L","RPL10","RPS19","RPS23","RPS6KA3","RREB1","RSPRY1","RTL1","RTTN","RUNX2","RUSC2","RYR1","SALL4","SAMHD1","SATB1","SATB2","SC5D","SCARF2","SCN4A","SCNM1","SCO2","SCUBE3","SCYL2","SEC23A","SEC24C","SEC24D","SERPINH1","SET","SETBP1","SETD1A","SETD1B","SETD2","SETD5","SFRP4","SGMS2","SGSH","SH2B1","SH3PXD2B","SHANK3","SHOX","SIK3","SIN3A","SIX2","SIX6","SKI","SKIC3","SLC12A6","SLC17A5","SLC25A12","SLC25A24","SLC26A2","SLC29A3","SLC2A10","SLC34A3","SLC35A1","SLC35A2","SLC35D1","SLC39A13","SLC39A14","SLC39A8","SLC3A1","SLC6A9","SLX4","SMAD3","SMAD4","SMAD6","SMARCA2","SMARCD1","SMC1A","SMC3","SMC5","SMG8","SMG9","SMO","SMOC1","SMS","SNAI2","SNAP29","SNORD115-1","SNORD116-1","SNRPN","SNX10","SNX14","SON","SOST","SOX2","SOX4","SOX5","SOX6","SOX9","SP7","SPECC1L","SPEN","SPOP","SPRTN","SPTA1","SPTB","SPTBN1","SRD5A3","STAC3","STAG2","STAT3","STXBP1","SUFU","SUPT16H","SYNE1","SYT1","TAB2","TAF1","TAF8","TANC2","TAPT1","TARS1","TBC1D20","TBC1D24","TBC1D7","TBCD","TBCE","TBL1XR1","TBX1","TBX15","TBX2","TBX4","TBX6","TBXAS1","TCF12","TCF20","TCIRG1","TCOF1","TCTN1","TCTN2","TCTN3","TDP2","TECPR2","TET3","TFAP2A","TFAP2B","TGFB1","TGFB2","TGFB3","TGFBR1","TGFBR2","THOC2","THUMPD1","TIMM50","TLK2","TMCO1","TMEM138","TMEM216","TMEM218","TMEM231","TMEM237","TMEM53","TMEM67","TMEM70","TNFRSF11A","TNFRSF11B","TNFRSF13B","TNFRSF13C","TNFSF11","TNFSF12","TOGARAM1","TONSL","TOPORS","TOR1A","TP53RK","TRAIP","TRAPPC9","TREX1","TRIM37","TRIO","TRIP11","TRIP12","TRIP13","TRPM3","TRPS1","TRPV6","TTC26","TTC5","TTC8","TUBA1A","TUBB","TUBB2B","TUBB3","TUBGCP4","TUBGCP6","TWIST1","TXNDC15","UBA2","UBE2T","UBE3A","UBE3B","UBE4B","UBR1","UFC1","UFD1","UGDH","UGP2","UNC80","UPF3B","USB1","USP7","USP9X","VAC14","VANGL2","VCP","VDR","VPS35L","WAC","WASHC5","WBP11","WDR19","WDR35","WDR73","WNT5A","WNT7A","XPA","XPC","XRCC2","XRCC4","YWHAE","YY1","ZBTB20","ZC4H2","ZDHHC9","ZEB2","ZFPM2","ZIC1","ZIC2","ZMPSTE24","ZMYND11","ZNF142","ZNF148","ZNF292","ZNF423","ZNF699","ZNHIT3","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_THICKENED_CALVARIA":{"collection":"C5:HPO","systematicName":"M35963","pmid":"","exactSource":"HP:0002684","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002684","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THICKENED_CALVARIA","geneSymbols":["AGA","AMER1","AP1S2","CA2","CDH11","COL11A1","DVL1","DYM","ERCC6","ERCC8","FLNA","GLB1","GNAS","GNPTAB","HPGD","IFIH1","LRP4","LRP5","MAN2B1","NONO","NOTCH3","PDE4D","PHF6","PLEKHM1","POLR3A","PTDSS1","PTH1R","RPS6KA3","RUNX2","SFRP4","SGMS2","SLC17A5","SMAD4","SMS","SNX14","TMEM53","TMEM67","TNFRSF11B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_FRONTAL_SINUS":{"collection":"C5:HPO","systematicName":"M35965","pmid":"","exactSource":"HP:0002687","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002687","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_FRONTAL_SINUS","geneSymbols":["AGA","ALX1","ALX3","ATRX","COL11A1","CTSK","DNAI1","FLNA","KCNJ2","MPDU1","NOTCH2","RUNX2","SFRP4","SIX2","TRIM37"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABSENT_FRONTAL_SINUSES":{"collection":"C5:HPO","systematicName":"M35966","pmid":"","exactSource":"HP:0002688","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002688","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_FRONTAL_SINUSES","geneSymbols":["ATRX","COL11A1","CTSK","DNAI1","FLNA","NOTCH2","RUNX2","TRIM37"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LARGE_SELLA_TURCICA":{"collection":"C5:HPO","systematicName":"M43275","pmid":"","exactSource":"HP:0002690","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002690","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LARGE_SELLA_TURCICA","geneSymbols":["ABCC9","ATRX","BRAF","CDH23","GLB1","GNPTAB","NR3C1","PCNT","SOST","TBC1D2B","TP53","TSHB","USP48","USP8","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PLATYBASIA":{"collection":"C5:HPO","systematicName":"M35967","pmid":"","exactSource":"HP:0002691","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002691","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PLATYBASIA","geneSymbols":["ARVCF","COL1A1","COL1A2","COMT","FLNB","GP1BB","HIRA","JMJD1C","LBR","NOTCH2","NOTCH3","RREB1","SEC24C","SH2B1","SIK3","TBX1","UFD1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_SKULL_BASE_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M35969","pmid":"","exactSource":"HP:0002693","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002693","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SKULL_BASE_MORPHOLOGY","geneSymbols":["ABAT","ABCC9","ACADVL","ACP5","AFF3","ALDH18A1","ALDH7A1","ALG3","ALX4","AMER1","ANKH","AP1S2","APC2","ARID1A","ARID1B","ARID2","ARMC9","ASXL1","ATP6V0A2","ATP6V1A","ATP6V1B2","ATP6V1E1","B3GALNT2","B3GALT6","B4GALT1","B4GAT1","B9D1","B9D2","BANF1","BCOR","BLTP1","BRF1","BUB1","BUB1B","BUB3","C2CD3","CAMSAP1","CC2D2A","CCDC22","CDC42","CDH2","CDKN1C","CEP120","CEP290","CEP57","CHD7","CLP1","CNOT3","COG1","COL1A1","COL1A2","COL4A1","CPLANE1","CPT2","CREBBP","CRPPA","CSF1R","CSPP1","CTU2","DAG1","DDX3X","DENND5A","DHCR7","DKK1","DLK1","DOK7","DPF2","DPH1","DPH2","DPH5","DPYSL5","DYNC2H1","DYNC2I1","DYNC2I2","EBP","EDEM3","EP300","ERCC5","ESCO2","EVC","EVC2","EXOSC8","FAR1","FBXO28","FGFR1","FGFR2","FKRP","FKTN","FLNA","FLNB","FLVCR2","FOXC1","FTO","GDF6","GJB2","GJB6","GLI3","GNAS","GPC3","GPC4","GTPBP2","HRAS","HYLS1","IFT80","IGF2","IL6ST","KATNB1","KCNQ1","KCNQ1OT1","KIAA0586","KIF21A","KIF5A","KIF7","KRAS","LARGE1","LBR","MAB21L1","MAN2B1","MAP3K7","MAPKAPK5","MBD5","MEG3","MID1","MKS1","MRE11","MSX2","MTM1","MUSK","MYF5","MYOD1","NDUFC2","NEK8","NOTCH2","NOTCH3","NPHP3","NRAS","NSD1","NUP88","OFD1","OPHN1","PACS2","PDGFRB","PGAP2","PHGDH","PIEZO2","PIGN","PIGU","PITX1","PLCH1","PLG","PLPBP","PMM2","PMPCA","POGZ","POLR2A","POLR3A","POMGNT1","POMGNT2","POMK","POMT1","POMT2","PPFIBP1","PPP1CB","PRX","PTDSS1","PTH1R","PUF60","RAB18","RAC1","RAPSN","RFT1","RNF113A","RNU12","RPGRIP1","RPGRIP1L","RTL1","RXYLT1","SEMA3E","SETBP1","SETD2","SH2B1","SH3PXD2B","SIK3","SIX2","SLC18A3","SLC31A1","SLC35A2","SLC4A2","SLC5A6","SLF2","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SMG9","SNORD118","SOX11","SOX3","SOX4","SUFU","TAF8","TBC1D24","TBX15","TCTN1","TCTN2","TCTN3","TGFB1","TIMMDC1","TMEM107","TMEM138","TMEM216","TMEM231","TMEM237","TMEM53","TMEM67","TNFRSF11A","TRIP13","TUBA1A","TUBB","TUBB2A","TXNDC15","USP9X","VPS35L","VPS51","VRK1","VSX1","WASHC5","WDR35","WDR73","WDR81","ZBTB20","ZEB2","ZIC1","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SCLEROSIS_OF_SKULL_BASE":{"collection":"C5:HPO","systematicName":"M35970","pmid":"","exactSource":"HP:0002694","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002694","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SCLEROSIS_OF_SKULL_BASE","geneSymbols":["ACP5","AMER1","ANKH","DLK1","FLNA","LBR","MAP3K7","MEG3","NOTCH3","PTDSS1","RTL1","SETBP1","SIK3","TGFB1","TMEM53","TNFRSF11A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_PARIETAL_BONE_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M35971","pmid":"","exactSource":"HP:0002696","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002696","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PARIETAL_BONE_MORPHOLOGY","geneSymbols":["ALX4","CREBBP","EP300","EXT2","FGFR2","FGFR3","FIG4","KRAS","MPDU1","MSX2","PGAP2","PGAP3","PHF21A","PIGL","PIGO","PIGV","PIGW","PIGY","POLR3A","PPM1D","PTCH1","PTPN11","RNU12","RPS19","RUNX2","TWIST1","VAC14","ZIC1","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PARIETAL_FORAMINA":{"collection":"C5:HPO","systematicName":"M35972","pmid":"","exactSource":"HP:0002697","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002697","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PARIETAL_FORAMINA","geneSymbols":["ALX4","CREBBP","EP300","EXT2","FGFR2","MSX2","PHF21A","PPM1D","RNU12","RPS19","TWIST1","ZIC1","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_FORAMEN_MAGNUM_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M35973","pmid":"","exactSource":"HP:0002699","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002699","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FORAMEN_MAGNUM_MORPHOLOGY","geneSymbols":["ALDH18A1","CHD4","CREBBP","ELN","EP300","FBLN5","FGFR3","FLNA","FLNB","GPSM2","HNRNPH1","IARS2","INPPL1","LBR","RAB23","RSPRY1","RUNX2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LARGE_FORAMEN_MAGNUM":{"collection":"C5:HPO","systematicName":"M35974","pmid":"","exactSource":"HP:0002700","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002700","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LARGE_FORAMEN_MAGNUM","geneSymbols":["CREBBP","EP300","FLNA","GPSM2","RAB23","RUNX2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_SKULL_OSSIFICATION":{"collection":"C5:HPO","systematicName":"M35975","pmid":"","exactSource":"HP:0002703","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002703","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_SKULL_OSSIFICATION","geneSymbols":["ALG9","ALPL","ALX4","ANTXR1","BMPER","COL1A1","COL1A2","COL2A1","CREB3L1","CRTAP","CSF1R","EXT2","FAM111A","FGFR2","FIG4","HDAC6","HGSNAT","HHAT","IFT43","INTU","LAMA5","LBR","LMNA","MPL","NAGLU","NOTCH2","OSTM1","P3H1","PHF21A","PPIB","PPP3CA","RBL2","RUNX2","SEC23A","SERPINH1","SGSH","SLC25A19","SLC25A24","TAPT1","TBCE","THPO","TRIP11","TXNDC15","VAC14","VCP","WNT7A","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HIGH_NARROW_PALATE":{"collection":"C5:HPO","systematicName":"M35976","pmid":"","exactSource":"HP:0002705","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002705","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HIGH_NARROW_PALATE","geneSymbols":["AARS1","ABCC6","ACTA1","ACTA2","ADNP","AFF4","AMER1","ANTXR1","APC","ARID2","ARL6","ASXL3","ATN1","ATP7A","BBS1","BCOR","BCR","BMPR1A","BRAF","CARS1","CCDC22","CCDC28B","CDC45","CDC6","CDK10","CDT1","CNTN1","COL11A1","COL12A1","COL3A1","COPB1","CPT2","CREBBP","CRKL","DDX59","DIS3L2","DPM1","DPYSL5","DVL1","DVL3","ELN","EP300","ERCC2","ERCC3","ERMARD","FBN1","FGFR1","FGFR3","FIG4","FOXE3","FOXP2","FZD2","GIPC1","GMNN","GNE","GPC3","GPC4","GRB10","GTF2E2","GTF2H5","H4C5","HECW2","HEY2","HNRNPK","IFT122","INTU","IPO8","KCNK9","KIF26A","KLHL41","LOX","LRP12","LRP4","MAP2K1","MAP3K7","MAPK1","MARS1","MAT2A","MCM3AP","MED12L","MED25","MEGF8","MFAP5","MPLKIP","MUSK","MYH11","MYLK","MYMX","NAA10","NDUFAF6","NEB","NIPBL","NONO","NOTCH2NLC","NOTCH3","NSD1","ORC1","ORC4","ORC6","PCDHGC4","PCLO","PEX1","PEX5","PIEZO2","PIGT","PLOD1","POR","PRKG1","PTDSS1","PTEN","PTPN11","RECQL4","RET","RILPL1","RNF113A","RUNX2","SCARF2","SIN3A","SKI","SLC25A12","SLC25A24","SLC6A17","SMAD2","SMAD3","SMAD4","SMARCA2","SMG9","SMS","SPEN","SPRED1","SPRED2","SPTBN1","TAF1","TAOK1","TARS1","TBCK","TBX1","TCTN3","TGFB2","TGFB3","TGFBR1","TGFBR2","THSD4","TPM3","UBE3B","UFC1","VAC14","VPS13B","VPS35L","WASHC5","WNT5A","WNT7A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DOWNTURNED_CORNERS_OF_MOUTH":{"collection":"C5:HPO","systematicName":"M35977","pmid":"","exactSource":"HP:0002714","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002714","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DOWNTURNED_CORNERS_OF_MOUTH","geneSymbols":["ABCC8","ABL1","AFF3","AFF4","ALX4","ASH1L","ATP1A2","ATP1A3","ATP6V1B2","BRD4","BRPF1","CACNA1A","CACNA1C","CAMTA1","CCDC47","CDC42","CDH11","CDK13","CDK5","CHRNG","CNOT3","COLEC10","COLEC11","CPLX1","CSNK2B","CTBP1","DCHS1","DHX37","DLK1","DNAJC21","DPF2","DPH5","DVL1","DVL3","EBF3","EEF1A2","EHMT1","EIF2S3","EXT2","FAT4","FBXO11","FGFRL1","FOXP1","FZD2","GCK","GK","GMPPA","GNB2","GPC4","GRB10","H3-3A","H4C11","H4C5","HACE1","HDAC4","HDAC8","HERC2","HMGA2","HNRNPK","HOXB1","HS6ST2","IGF2","INS","INTS1","KAT6A","KAT8","KCNH1","KCNJ11","KCNMA1","KDM1A","KDM4B","KIAA0753","KIF15","KIF7","KMT2D","LEMD3","LETM1","LMBR1","MAFB","MAGEL2","MASP1","MBD5","MED12L","MED13L","MEF2C","MEG3","MKRN3","MSL3","MYMX","NARS2","NDN","NELFA","NEXMIF","NIPBL","NOTCH2","NOVA2","NPAP1","NSD2","NTNG2","NXN","OCA2","PACS1","PACS2","PCGF2","PCLO","PDX1","PGAP2","PGAP3","PHF21A","PIGA","PIGG","PIGL","PIGO","PIGQ","PIGT","PIGU","PIGV","PIGW","PIGY","PIK3R1","PLOD3","POGZ","POLA1","POLR3A","PPP1R15B","PRKAR1B","PRR12","PWAR1","PWRN1","RAB18","RAD21","RLIM","RNU4ATAC","ROR2","RTL1","SC5D","SCNM1","SETD5","SHMT2","SIM1","SLC1A3","SMARCD1","SMC1A","SMC3","SMC5","SNORD115-1","SNORD116-1","SNRPN","SON","SRCAP","STAC3","STAT3","TASP1","TBC1D24","TBL1XR1","TCF20","TELO2","TRAPPC9","TRIP12","TRMT10A","TWIST2","UBE2A","UBR1","WAC","WDR37","WDR4","WNT5A","ZBTB20","ZC4H2","ZMYM2","ZNF407","ZPR1","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ADRENAL_OVERACTIVITY":{"collection":"C5:HPO","systematicName":"M35978","pmid":"","exactSource":"HP:0002717","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002717","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ADRENAL_OVERACTIVITY","geneSymbols":["AIRE","ARMC5","ATRX","BRAF","BSND","CACNA1D","CACNA1H","CBX2","CDH23","CDKN1A","CDKN1B","CDKN2A","CDKN2B","CDKN2C","CLCN2","CLCNKA","CLCNKB","CTNNB1","CYP11A1","CYP11B1","CYP11B2","GNAS","HTR1A","INSR","KCNJ1","KCNJ10","KCNJ11","KCNJ16","KCNJ2","KCNJ5","MEN1","NR3C1","NR3C2","OCRL","PDE11A","PDE8B","POR","PRKACA","PRKAR1A","RET","SCNN1A","SCNN1B","SCNN1G","SLC12A1","SLC12A3","SLC26A3","TERT","TP53","USP48","USP8","ZNRF3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RECURRENT_BACTERIAL_INFECTIONS":{"collection":"C5:HPO","systematicName":"M35979","pmid":"","exactSource":"HP:0002718","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002718","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_BACTERIAL_INFECTIONS","geneSymbols":["ACTC1","ADA","ADAM17","AICDA","ANTXR2","AP3B1","ATP6AP1","BLNK","BTK","C3","C5","C6","C7","C8B","CARMIL2","CCDC103","CCDC39","CCDC40","CCDC65","CCNO","CD19","CD40","CD40LG","CD79A","CD79B","CD81","CD8A","CEACAM3","CEACAM6","CEBPE","CFAP221","CFAP298","CFAP300","CFAP74","CFB","CFD","CFH","CFI","CFTR","CIITA","CITED2","CLCA4","CLPB","CR2","CTSC","CXCR4","CYBA","CYBB","DCLRE1C","DCTN4","DEF6","DNAAF1","DNAAF11","DNAAF2","DNAAF3","DNAAF4","DNAAF5","DNAAF6","DNAH1","DNAH11","DNAH5","DNAH9","DNAI1","DNAI2","DNAJB13","DNAJC21","DNAL1","DNASE1L3","DOCK8","DRC1","EDNRA","EFL1","EGFR","ELANE","EPG5","EPHB4","FCN3","FERMT3","FOXJ1","G6PC3","GAS2L2","GAS8","GATA1","GATA2","GATA4","GATA6","GCLC","GFI1","GJB2","GJB6","GPR35","GSTM3","HAX1","HBB","HFE","HMOX1","HYDIN","ICOS","IFNGR1","IFNGR2","IGHG2","IGHM","IGKC","IGLL1","IKBKG","IKZF1","IKZF3","IL10RA","IL12RB1","IL17RA","IL2RA","IL2RG","IRAK4","ISG15","ITGB2","JAGN1","KCNN4","KNSTRN","LAMA3","LAMB3","LAMC2","LCP2","LRRC56","LYST","MALT1","MAN2B1","MBL2","MBTPS2","MCIDAS","MIF","MS4A1","MST1","MYD88","MYH6","NCF1","NCF2","NEK10","NFKBIA","NHEJ1","NKX2-5","NME5","NME8","NTRK1","ODAD1","ODAD2","ODAD3","ODAD4","OFD1","OTULIN","PGM3","PIK3CD","PIK3R1","PNP","POMP","PSEN1","PSENEN","RAB27A","RAG1","RAG2","RBCK1","RFX5","RFXANK","RFXAP","RPGR","RSPH1","RSPH3","RSPH4A","RSPH9","SAMD9","SBDS","SCNN1A","SCNN1B","SCNN1G","SEMA4D","SERPINA1","SH3KBP1","SLC11A1","SLC26A9","SLC35A1","SLC37A4","SLC39A7","SLC6A14","SLC7A7","SLC9A3","SMARCD2","SPAG1","SPEF2","SRP19","SRP54","STAT1","STAT3","STIM1","STK36","STK4","STX1A","TBCE","TBX20","TCF4","TCIRG1","TGFB1","TLL1","TNFRSF13B","TNFRSF13C","TTC12","TYK2","UBE2A","UNG","UROD","UROS","WAS","ZAP70","ZMYND10"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DECREASED_CIRCULATING_IGA_LEVEL":{"collection":"C5:HPO","systematicName":"M35980","pmid":"","exactSource":"HP:0002720","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002720","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_CIRCULATING_IGA_LEVEL","geneSymbols":["ADA","AICDA","ALG12","ATM","ATP6AP1","BACH2","BLM","BLNK","BTK","CARD11","CASP8","CAVIN1","CD19","CD247","CD3D","CD3E","CD40","CD40LG","CD79B","CR2","CSNK2A1","CTLA4","DCLRE1C","DNMT3B","HLA-DQA1","HLA-DQB1","ICOS","IGHG2","IGKC","IGLL1","IKBKG","IL2RA","IL2RG","IL6ST","IPO8","IRF2BP2","ITCH","IVNS1ABP","JAK3","KNSTRN","LCK","LIG1","LRBA","MOGS","MTOR","NFE2L2","NFKB2","NFKBIA","PIGT","PIK3CD","PIK3CG","PIK3R1","PLCG2","PMM2","PRIM1","PTPRC","RAG1","RAG2","REL","RNF168","SASH3","SPI1","STAT2","SYK","TCF3","TCN2","TNFRSF11A","TNFRSF13B","TNFRSF13C","TOM1","TYMS","UNG","ZBTB24","ZNF341"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_IMMUNODEFICIENCY":{"collection":"C5:HPO","systematicName":"M35981","pmid":"","exactSource":"HP:0002721","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002721","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMMUNODEFICIENCY","geneSymbols":["ACD","ACP5","ACTB","ADA","ADA2","AGL","AICDA","AK2","AKT1","ALG1","AMN","ANTXR2","AP3D1","ARVCF","ATM","ATRX","BCL10","BCL11B","BCR","BLNK","BRAF","BTK","BUB1B","CACNA1C","CARD11","CARD9","CCDC47","CD19","CD247","CD28","CD3D","CD3E","CD3G","CD40","CD40LG","CD79A","CD79B","CD81","CDC42","CDCA7","CDH23","CHD1","CHD7","COMT","CORO1A","CPLX1","CR2","CREBBP","CRKL","CTBP1","CTC1","CTLA4","CTPS1","CUBN","CUL4B","CYBA","CYBB","DCLRE1B","DCLRE1C","DKC1","DNAJC21","DNMT3B","DOCK2","DPP9","EFL1","EP300","EPG5","EXTL3","FCGR3A","FGFRL1","FOXN1","FRAS1","GATA2","GP1BB","HBB","HELLS","HIRA","HYOU1","ICOS","IFNGR1","IFNGR2","IGHM","IGLL1","IKBKB","IKBKG","IKZF1","IL12B","IL12RB1","IL21R","IL2RA","IL2RB","IL2RG","IL7R","IRAK4","IRF2BP2","IRF7","IRF8","ISG15","IVNS1ABP","JAK3","JMJD1C","KLLN","KNSTRN","LAMTOR2","LAT","LCK","LCP2","LETM1","LIG4","LMNB2","LRBA","LRRC8A","LYST","MAGT1","MALT1","MAN2B1","MAPK1","MBTPS2","MCM10","MEIS2","MGAT2","MLPH","MMUT","MS4A1","MTHFD1","MYC","MYD88","NCF1","NCF2","NFE2L2","NFKB1","NFKB2","NHEJ1","NHP2","NOP10","NPM1","NR3C1","NSD2","ORAI1","OTULIN","PARN","PGM3","PI4KA","PIK3CA","PIK3CD","PIK3R1","PNP","POGZ","POLE","PRKCD","PRKDC","PRPS1","PTEN","RAB27A","RAC2","RAG1","RAG2","RBCK1","RMRP","RNF168","RREB1","RTEL1","SBDS","SDHB","SDHC","SDHD","SEC23B","SEC24C","SH2D1A","SHANK3","SIK3","SKIC2","SKIC3","SLC39A7","SLC46A1","SMARCAL1","SP110","SPATA5","SPI1","SRP54","STAT1","STIM1","STK4","TBCE","TBK1","TBX1","TCF3","TERC","TERT","TFRC","TICAM1","TINF2","TLR3","TNFRSF13B","TNFRSF13C","TNFRSF1B","TNFRSF4","TNFSF12","TOM1","TP53","TRAF3","TTC7A","TYK2","TYMS","UFD1","UNC119","UNC93B1","UNG","USB1","USF3","USP48","USP8","WAS","WIPF1","WRAP53","XIAP","XRCC4","ZBTB24","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RECURRENT_ABSCESS_FORMATION":{"collection":"C5:HPO","systematicName":"M35982","pmid":"","exactSource":"HP:0002722","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002722","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_ABSCESS_FORMATION","geneSymbols":["AP3B1","BTK","CARMIL2","CD247","CD3D","CD3E","CEBPE","CTSC","FCN3","GJB2","GJB6","LCP2","PI4KA","PSEN1","PSENEN","SP110","SYK","TTC7A","UBE2A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RECURRENT_ASPERGILLUS_INFECTIONS":{"collection":"C5:HPO","systematicName":"M35983","pmid":"","exactSource":"HP:0002724","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002724","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_ASPERGILLUS_INFECTIONS","geneSymbols":["CEACAM3","CEACAM6","CFTR","CLCA4","CYBA","CYBB","DCTN4","EDNRA","GCLC","GSTM3","HFE","HMOX1","KCNN4","MIF","NCF1","NCF2","SERPINA1","SLC11A1","SLC26A9","SLC6A14","SLC9A3","STAT1","STX1A","TGFB1","TOM1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SYSTEMIC_LUPUS_ERYTHEMATOSUS":{"collection":"C5:HPO","systematicName":"M35984","pmid":"","exactSource":"HP:0002725","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002725","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SYSTEMIC_LUPUS_ERYTHEMATOSUS","geneSymbols":["ACP5","C1QA","C1S","C2","C3","C4A","C8A","CASP10","CFTR","CTLA4","DDX41","DNASE1","DNASE1L3","FAS","FASLG","FCGR2A","FCGR2B","IGHG2","IGKC","IRAK1","MASP2","PEPD","PNP","PRKCD","PTPN22","RASGRP1","SAT1","SEMA6B","SERPING1","SMPD1","SOCS1","SPP1","STAT4","TLR7","TPP2","TREX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CHRONIC_MUCOCUTANEOUS_CANDIDIASIS":{"collection":"C5:HPO","systematicName":"M46077","pmid":"","exactSource":"HP:0002728","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002728","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHRONIC_MUCOCUTANEOUS_CANDIDIASIS","geneSymbols":["ADA","AIRE","AP3B1","CARD9","CARMIL2","CD247","CD3D","CD3E","CD3G","CD40LG","CIITA","CLEC7A","CORO1A","DCLRE1C","DOCK2","EPG5","IKBKB","IKBKG","IL17F","IL17RA","IL17RC","IL2RA","IL2RG","IL6ST","IL7R","ITGB2","JAK3","KNSTRN","LCK","MVK","NFKBIA","PGM3","PIK3CD","RFX5","RFXANK","RFXAP","RORC","SP110","SREBF1","STAT1","STAT3","STK4","TFRC","TLR8","TOM1","TRAC","TRAF3IP2","WDR1","ZAP70","ZNF341"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FOLLICULAR_HYPERPLASIA":{"collection":"C5:HPO","systematicName":"M35987","pmid":"","exactSource":"HP:0002729","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002729","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOLLICULAR_HYPERPLASIA","geneSymbols":["CASP10","CD19","CR2","CTNNBL1","FAS","FASLG","ICOS","KRAS","NRAS","PRKCD","STING1","SYK","TET2","TNFRSF13B","TNFRSF13C"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CHRONIC_NONINFECTIOUS_LYMPHADENOPATHY":{"collection":"C5:HPO","systematicName":"M35988","pmid":"","exactSource":"HP:0002730","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002730","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHRONIC_NONINFECTIOUS_LYMPHADENOPATHY","geneSymbols":["ABCA1","ATRX","CASP10","DAXX","FAS","FASLG","FOXE1","HABP2","MINPP1","PRKCD","RASGRP1","SDHD"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DECREASED_LYMPHOCYTE_APOPTOSIS":{"collection":"C5:HPO","systematicName":"M35989","pmid":"","exactSource":"HP:0002731","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002731","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_LYMPHOCYTE_APOPTOSIS","geneSymbols":["CASP10","CASP8","FAS","FASLG","KRAS","NRAS"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LYMPH_NODE_HYPOPLASIA":{"collection":"C5:HPO","systematicName":"M46078","pmid":"","exactSource":"HP:0002732","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002732","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LYMPH_NODE_HYPOPLASIA","geneSymbols":["BTK","DCLRE1C","EPHB4","IL2RG","PNP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_LYMPH_NODE_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M35990","pmid":"","exactSource":"HP:0002733","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002733","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LYMPH_NODE_MORPHOLOGY","geneSymbols":["ABCA1","ACP5","ADA","ADA2","ADAMTS3","AGR2","AICDA","ANKRD55","APOE","ARPC1B","ASAH1","ASXL1","ATM","ATRX","BANK1","BAP1","BCL10","BCL2","BCL6","BCOR","BIRC3","BLK","BRCA1","BRCA2","BTK","BTNL2","C4A","C4B","CALR","CARD9","CASP10","CASP8","CBL","CCBE1","CCND1","CCR1","CD19","CD247","CD27","CD28","CD40","CD40LG","CD70","CD81","CDKN2A","CHD7","CLCN7","CR2","CTLA4","CTNNBL1","CXCR4","CYBA","CYBB","CYBC1","DAXX","DCLRE1C","DEF6","DIS3L2","DLEC1","DNASE1","DNASE1L3","EIF2AK4","ELANE","EPHB4","ERAP1","ETS1","EWSR1","FAS","FASLG","FAT4","FCGR2B","FCGR3B","FCHO1","FERMT3","FIP1L1","FOXE1","FOXP1","FOXP3","GATA2","GINS1","GPC3","H19","HABP2","HLA-B","HLA-DPB1","HLA-DRB1","HMOX1","ICOS","IFIH1","IFNGR1","IGHG1","IKBKG","IL10","IL12A","IL12A-AS1","IL12RB1","IL23R","IL2RA","IL2RB","IL2RG","IL6","IL6ST","IL7R","IRAK1","IRF2BP2","IRF4","IRF5","IRF8","ISG15","ITGAM","ITK","JAK2","JAK3","JAZF1","KIAA0319L","KIT","KLRC4","KRAS","LACC1","LAT","LCAT","LIG4","LRBA","LYST","MAGT1","MALT1","MCM4","MECP2","MEFV","MIF","MINPP1","MPL","MS4A1","MVK","MYC","MYD88","NABP1","NCF1","NCF2","NCF4","NCKAP1L","NFATC2","NFKB1","NFKB2","NFKBIA","NLRP12","NLRP3","NOD2","NPM1","NRAS","NUMA1","OTULIN","P4HA2","PALB2","PALLD","PDCD1","PIK3CD","PIK3CG","PIK3R1","PML","PNP","POMP","POU6F2","PRF1","PRKAR1A","PRKCD","PSMB4","PSMB8","PSMB9","PSMG2","PSTPIP1","PTEN","PTPN2","PTPN22","PTPRC","PXK","RAB27A","RABL3","RAC2","RAG1","RAG2","RARA","RASGRP1","RBCK1","REST","RIPK1","RMRP","RNF168","RNF6","RNU4ATAC","RUNX1","SAT1","SDHD","SH2D1A","SH3BP2","SLC29A3","SMAD4","SMPD1","SNX10","SOCS1","SP110","SPP1","SRSF2","STAT1","STAT2","STAT3","STAT4","STAT5B","STIM1","STING1","STX11","STXBP2","SYK","TBL1XR1","TCIRG1","TERT","TET2","TGFBR2","TLR4","TLR7","TLR8","TNFAIP3","TNFRSF13B","TNFRSF13C","TNFRSF1A","TNFRSF1B","TNFRSF9","TNFSF11","TNFSF12","TNFSF4","TNIP1","TP53","TPP2","TRAC","TREX1","TRIM28","TRIP13","TSC1","TSC2","UBAC2","UBE2L3","UNC13D","UNG","WDR1","WT1","WWOX","XIAP","XRCC4","YARS1","ZAP70","ZBTB16","ZNFX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPOPLASTIC_FRONTAL_SINUSES":{"collection":"C5:HPO","systematicName":"M35991","pmid":"","exactSource":"HP:0002738","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002738","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASTIC_FRONTAL_SINUSES","geneSymbols":["AGA","ALX3","COL11A1","FLNA","RUNX2","SFRP4","TRIM37"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RECURRENT_KLEBSIELLA_INFECTIONS":{"collection":"C5:HPO","systematicName":"M35992","pmid":"","exactSource":"HP:0002742","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002742","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_KLEBSIELLA_INFECTIONS","geneSymbols":["CYBA","CYBB","IL12RB1","MBL2","NCF1","NCF2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RECURRENT_ENTEROVIRAL_INFECTIONS":{"collection":"C5:HPO","systematicName":"M35993","pmid":"","exactSource":"HP:0002743","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002743","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_ENTEROVIRAL_INFECTIONS","geneSymbols":["BTK","IGHM","RAG1","RAG2","SP110"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BILATERAL_CLEFT_LIP_AND_PALATE":{"collection":"C5:HPO","systematicName":"M35994","pmid":"","exactSource":"HP:0002744","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002744","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BILATERAL_CLEFT_LIP_AND_PALATE","geneSymbols":["CDH1","CHUK","CTNND1","GLI2","MED12","NECTIN1","SIX3","SPOP","YAP1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ORAL_LEUKOPLAKIA":{"collection":"C5:HPO","systematicName":"M35995","pmid":"","exactSource":"HP:0002745","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002745","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ORAL_LEUKOPLAKIA","geneSymbols":["ACD","CAST","CTC1","DCLRE1B","DKC1","FERMT1","GJB2","KRT16","KRT17","KRT4","KRT6A","KRT6B","KRT6C","MEFV","NHP2","NOP10","NPM1","PARN","RHBDF2","RPA1","RTEL1","TERC","TERT","TINF2","TP53","TYMS","USB1","WRAP53"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RICKETS":{"collection":"C5:HPO","systematicName":"M35996","pmid":"","exactSource":"HP:0002748","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002748","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RICKETS","geneSymbols":["ABCC6","ADAMTS2","ADAMTSL2","AKR1D1","ALPL","ATP6V0A4","ATP7A","ATP8B1","BAAT","CLCN5","CTNS","CYP27B1","CYP2R1","DMP1","EHHADH","ENPP1","FAH","FARSB","FGF23","GATM","HLA-DQA1","HLA-DQB1","HNF4A","HRAS","HSD3B7","KRAS","NAB2","NDUFAF6","NRAS","OCRL","PHEX","POLRMT","RNU4ATAC","RRM2B","SLC2A2","SLC34A1","SLC34A3","SLC4A1","STAT6","TJP2","VDR"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_OSTEOMALACIA":{"collection":"C5:HPO","systematicName":"M35997","pmid":"","exactSource":"HP:0002749","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002749","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OSTEOMALACIA","geneSymbols":["ABCC6","ADAMTS2","ADAMTSL2","ALPL","ANTXR2","AP2S1","ATP7A","ATP7B","CLCN5","CYP27B1","CYP2R1","DMP1","EHHADH","ENPP1","FGF23","GATM","GNAS","NDUFAF6","OCRL","PHEX","RNU4ATAC","SLC2A2","SLC34A1","SLC34A3","SLC4A1","SYK","VDR"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_KYPHOSCOLIOSIS":{"collection":"C5:HPO","systematicName":"M35998","pmid":"","exactSource":"HP:0002751","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002751","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_KYPHOSCOLIOSIS","geneSymbols":["ACP5","ACTA1","ACTB","AEBP1","AGRN","AIFM1","AIMP1","AIMP2","AKT1","ALDH18A1","ARID2","ARSB","ATAD1","ATG7","ATP6V0A2","ATP6V1A","ATP6V1E1","ATRX","B3GALT6","B4GALT7","BCOR","BMP1","BRAF","CBS","CCN6","CDH11","CFL2","CHAT","CHST14","CHST3","CLIC2","CLP1","COG1","COL12A1","COL13A1","COL1A2","COL2A1","CRLF1","CRPPA","CTDP1","DLK1","DLL3","DNA2","DNMT3A","DSE","DSTYK","DVL1","EBP","EGR2","ELN","ERCC1","ERCC2","ERCC6","EXTL3","FARS2","FBN1","FBN2","FHL1","FKBP10","FKBP14","FKRP","FKTN","FLNA","FUT8","GDAP1","GLS","GNPTAB","GORAB","GZF1","H1-4","HACD1","HERC1","HGSNAT","HMGB3","HRAS","HSPG2","HTRA1","IKBKG","ITGA7","JAG1","JPH1","KCNA1","KIF22","KRAS","KY","LAMA2","LHX3","LMNA","LRP5","MAP2K1","MAP3K20","MAPT","MECP2","MEG3","MEGF8","MESD","MESP2","MGAT2","MLXIPL","MMP2","MPZ","MRPS34","MTTP","MVK","MYH3","MYL2","MYO9A","NAA10","NDRG1","NDUFS3","NEMF","NEPRO","NF1","NFIX","NKX3-2","NONO","NOTCH2","NRAS","NSDHL","NUP107","PAPSS2","PEX7","PIEZO2","PLOD1","PMM2","PMP22","PNKP","POLR3A","POMT1","POP1","PPP1R12A","PPP1R15B","PRX","PTCH1","PTPN11","RAB18","RAB23","RAB3GAP1","RBM28","RECQL4","RPS6KA3","RSPRY1","RTL1","RYR1","SBF2","SELENON","SETBP1","SH3PXD2B","SLC10A7","SLC16A2","SLC18A3","SLC1A2","SLC25A1","SLC26A2","SLC39A13","SLC52A2","SLC5A7","SLITRK2","SMS","SNAP25","SNX14","SON","SOX9","SPARC","SPART","SPG11","SRCAP","STAC3","SURF1","SYNE1","SYT2","TCTN3","TELO2","TGFB3","TMEM147","TMEM165","TNNT1","TONSL","TOR1A","TPM2","TPM3","TRAPPC2","TRMT10A","TRPV4","TTI2","TUBB3","TUBB4A","UBA1","VAMP1","WDR11","WDR45B","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SPARSE_BONE_TRABECULAE":{"collection":"C5:HPO","systematicName":"M35999","pmid":"","exactSource":"HP:0002752","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002752","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPARSE_BONE_TRABECULAE","geneSymbols":["CLCN5","CYP27B1","CYP2R1","SLC34A3","VDR"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_THIN_BONY_CORTEX":{"collection":"C5:HPO","systematicName":"M36000","pmid":"","exactSource":"HP:0002753","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002753","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THIN_BONY_CORTEX","geneSymbols":["ADAMTS10","AKT1","CCDC134","CLCN5","CYP27B1","CYP2R1","FARSB","FBN1","GLB1","MMP2","PRKG2","PTH1R","SERPINH1","SFRP4","SLC34A3","SMS","TENT5A","TMEM53","TNFRSF11A","VDR","XYLT2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_OSTEOMYELITIS":{"collection":"C5:HPO","systematicName":"M36001","pmid":"","exactSource":"HP:0002754","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002754","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OSTEOMYELITIS","geneSymbols":["ANO5","ATL1","ATL3","ATP7A","BLNK","BTK","C2orf69","CCT5","CD79A","CD79B","CLCN7","CLTCL1","CYBA","CYBB","DNAJC21","DNMT1","EFL1","EN1","FLVCR1","FOXP3","GATA2","HBB","HLA-B","HPGD","IFNGR1","IGHM","IGLL1","IKBKG","IL12RB1","IL1R1","IL1RN","IL6ST","ITGB2","LPIN2","LRRC8A","MPV17","MTAP","NCF1","NCF2","NGF","NTRK1","PGM3","PIK3R1","PLEKHM1","RAB7A","REL","RETREG1","SBDS","SCNN1A","SCNN1B","SCNN1G","SLC39A7","SLCO2A1","SPI1","SPTBN1","SPTLC1","SPTLC2","SRP54","STAT1","STAT3","SYK","TCF3","TCIRG1","TNFSF11","ZNF341"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PATHOLOGIC_FRACTURE":{"collection":"C5:HPO","systematicName":"M36002","pmid":"","exactSource":"HP:0002756","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002756","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PATHOLOGIC_FRACTURE","geneSymbols":["AGA","AGXT","ALPL","ASXL1","ATL1","ATL3","ATP7B","B2M","B3GALT6","BANF1","CBL","CCND1","CHEK2","CTC1","EFEMP2","FBLN5","GBA1","GK","GNAS","GNPTAB","HNRNPA1","HNRNPA2B1","IER3IP1","LIFR","LRP5","LTBP1","MET","MTAP","NOTCH2","OCRL","PLOD3","PTH1R","RB1","RECQL4","RUNX1","SC5D","SCARB2","SLC34A1","SLC34A3","SLC4A1","SLC4A2","SLC7A7","SMPD1","SPTLC1","SPTLC2","SRSF2","TCIRG1","TET2","TNFRSF11A","TP53","TREM2","TYROBP","UROS","VCP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RECURRENT_FRACTURES":{"collection":"C5:HPO","systematicName":"M36003","pmid":"","exactSource":"HP:0002757","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002757","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_FRACTURES","geneSymbols":["ALPL","ANO5","ANOS1","ANTXR2","ATP7A","B3GALT6","B3GAT3","B4GALT7","BMP1","CA2","CASR","CBS","CCDC134","CCDC141","CHD7","CHST3","CLCN5","CLCN7","CLTCL1","COL1A1","COL1A2","COPB2","CREB3L1","CRTAP","CTC1","CTNND2","CYP27B1","CYP2R1","DCC","DKC1","DKK1","DUSP6","ELP1","FEZF1","FGF17","FGF8","FGFR1","FKBP10","FLRT3","FOXE1","FZD4","GLE1","GNAS","GORAB","HABP2","HESX1","HRAS","HS6ST1","IDH1","IDH2","IFITM5","IL17RD","IL6ST","IRX5","KDELR2","KRAS","LBR","LIFR","LRP5","MBTPS2","MINPP1","MOGS","MTAP","MYH3","NDNF","NFIX","NGF","NHP2","NOP10","NOTCH2","NPM1","NRAS","OCRL","P3H1","P4HB","PARN","PDGFRB","PLEKHM1","PLOD2","POT1","PPIB","PRDM5","PROK2","PROKR2","PTEN","PYCR1","RRM2B","RTEL1","RUNX2","SEC24D","SEMA3A","SEMA5A","SGMS2","SLC29A3","SLC34A1","SLC34A3","SLC7A7","SMS","SNX10","SOX10","SOX9","SP7","SPARC","SPRY4","SQSTM1","STAT3","TACR3","TAPT1","TBCD","TCIRG1","TENT5A","TERC","TERT","TINF2","TMEM38B","TNFRSF11A","TNFRSF11B","TNFSF11","TRIP11","TRPV6","TYMS","UNC45A","USB1","VCP","VDR","WDR11","WNT1","WNT3A","WRAP53","YY1AP1","ZNF687"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_OSTEOARTHRITIS":{"collection":"C5:HPO","systematicName":"M36004","pmid":"","exactSource":"HP:0002758","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002758","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OSTEOARTHRITIS","geneSymbols":["ACAN","AEBP1","AIP","ANKH","ANKRD55","ASPN","ATP7B","CANT1","CCN6","CD247","CLCN7","COL11A1","COL11A2","COL1A1","COL2A1","COL3A1","COL5A1","COL5A2","COL9A1","COL9A2","COL9A3","COMP","DDRGK1","EMILIN1","F8","F9","FBN1","FGFR3","FRZB","GBA1","GDF5","GHR","GNAS","GPR101","HGD","HLA-B","HPGD","IL2RA","IL2RB","KIF22","LMNA","MATN3","MEFV","MIR140","MMP13","NGF","PHEX","PRG4","PTPN2","PTPN22","SCARB2","SLC26A2","SLC40A1","SMAD2","SMAD3","STAT4","STT3A","TGFB3","TNFRSF11B","TRAPPC2","TRPS1","TRPV4","UFSP2","ZMPSTE24","ZNF687"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_GENERALIZED_JOINT_LAXITY":{"collection":"C5:HPO","systematicName":"M36005","pmid":"","exactSource":"HP:0002761","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002761","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENERALIZED_JOINT_LAXITY","geneSymbols":["AEBP1","AP4B1","AP4E1","AP4M1","AP4S1","ATP6V0A2","ATP6V1A","ATP6V1E1","C1R","CHD7","CHST14","COL1A1","COL2A1","COL5A1","COL5A2","COMP","DSE","DUSP6","FGF17","FGF8","FGFR1","FGFR3","GNRH1","GNRHR","HS6ST1","IPO8","KIF22","KISS1","KISS1R","LONP1","MCTP2","MED12","MSTO1","NHLH2","NSMF","PHIP","PLOD1","PROK2","PROKR2","PUF60","SATB2","SERPINH1","SPRY4","TAC3","TACR3","TDO2","TONSL","WDR11"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MULTIPLE_EXOSTOSES":{"collection":"C5:HPO","systematicName":"M36006","pmid":"","exactSource":"HP:0002762","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002762","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MULTIPLE_EXOSTOSES","geneSymbols":["ALX4","EXT1","EXT2","MSX2","PTPN11","RAD21","SHOX","TRPS1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CARTILAGE_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M36007","pmid":"","exactSource":"HP:0002763","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002763","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CARTILAGE_MORPHOLOGY","geneSymbols":["ABCC6","ANKH","COL2A1","DDR2","DHX30","EDN1","ENPP1","EXT1","EXT2","F8","FGFR1","FGFR2","FGFR3","FLNB","GNAI3","HGD","HLA-B","HS2ST1","IDH1","IDH2","KRAS","LBR","MAD1L1","MGP","NSD2","PEX2","PEX5","PLCB4","POLR1B","POLR1C","POLR1D","PTCH1","PTH1R","PTPN11","PUF60","SIX3","SLC26A2","STEEP1","TCOF1","TCTN3","TGIF1","TNFRSF11B","TRAPPC2","TWIST1","UBA1","ZBTB20","ZNF462"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_TRACHEAL_STENOSIS":{"collection":"C5:HPO","systematicName":"M36008","pmid":"","exactSource":"HP:0002777","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002777","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TRACHEAL_STENOSIS","geneSymbols":["ADAMTSL2","ARSL","BUB1","DDRGK1","DHCR7","EBP","EXTL3","FLNB","FOXI1","FRAS1","FREM2","GRIP1","HOXD13","HYLS1","IDUA","KCNJ10","KIF7","LTBP3","MAP3K7","MGP","PCNT","RMRP","RSPO2","SLC26A2","SLC26A4","SMAD4","WNT3","ZEB2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_TRACHEAL_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M36009","pmid":"","exactSource":"HP:0002778","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002778","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_TRACHEAL_MORPHOLOGY","geneSymbols":["ADAMTSL2","AFF4","AHDC1","AMER1","ARNT2","ARSL","B3GALT6","BAZ1B","BCL7B","BMPER","BRCA1","BRCA2","BRIP1","BUB1","BUD23","CHD7","CLIP2","COL2A1","CTC1","CYBA","CYBB","CYBC1","DCHS1","DDR2","DDRGK1","DHCR7","DKC1","DNAJC30","EBP","EHMT1","EIF4H","ELN","EMC1","ERCC4","ERF","EXTL3","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FAT4","FBN2","FGF20","FGFR1","FGFR2","FKBP6","FLNB","FOXF1","FOXI1","FRAS1","FREM2","GFRA1","GLMN","GMNN","GREB1L","GRIP1","GTF2I","GTF2IRD1","GTF2IRD2","HDAC4","HESX1","HK1","HOXD13","HRAS","HYLS1","IDS","IDUA","ITGA8","KANSL1","KCNJ10","KIF22","KIF7","KMT2C","LBR","LIMK1","LMBRD1","LTBP3","LTBP4","MAD2L2","MAP3K7","METTL27","MGP","MID1","MLXIPL","MYCN","MYRF","NCF1","NCF2","NCF4","NHP2","NOP10","NOTCH3","NPM1","ORC4","ORC6","OTX2","PAICS","PALB2","PARN","PAX3","PCNT","PDGFRB","POLA1","POLG","POLR1B","POLR1C","POLR1D","PROKR2","PRRX1","RAB3GAP2","RAC1","RAD51","RAD51C","RALGAPA1","RET","RFC2","RFWD3","RMRP","RPL5","RSPO2","RTEL1","SALL1","SCUBE3","SEMA3E","SETD2","SLC12A2","SLC26A2","SLC26A4","SLX4","SMAD4","SNRPB","SOX2","SOX3","SOX9","STX1A","TBL2","TCOF1","TERC","TERT","TINF2","TMEM270","TONSL","TRIM2","TRRAP","TYMS","UBA2","UBE2T","USB1","USP9X","VPS37D","WBP11","WDR26","WNT3","WNT7A","WNT9B","WRAP53","XRCC2","ZEB2","ZIC3","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_TRACHEOMALACIA":{"collection":"C5:HPO","systematicName":"M36010","pmid":"","exactSource":"HP:0002779","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002779","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TRACHEOMALACIA","geneSymbols":["AFF4","AHDC1","AMER1","B3GALT6","BMPER","COL2A1","DCHS1","EHMT1","EMC1","ERF","FAT4","FGFR2","FLNB","GMNN","HDAC4","HK1","HRAS","IDS","KANSL1","KIF22","KMT2C","LTBP4","MID1","MYRF","ORC4","ORC6","PAX3","POLG","PRRX1","RAB3GAP2","RAC1","RALGAPA1","RPL5","SCUBE3","SETD2","SLC26A2","SNRPB","SOX9","TONSL","TRIM2","TRRAP","USP9X","WDR26","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BRONCHOMALACIA":{"collection":"C5:HPO","systematicName":"M36011","pmid":"","exactSource":"HP:0002780","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002780","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BRONCHOMALACIA","geneSymbols":["EHMT1","ERF","FGFR1","FGFR2","FLNB","GMNN","HRAS","IDS","IL6ST","KAT6A","KRT14","KRT5","LTBP4","MYH11","MYRF","ORC4","ORC6","POR","RAC1","SCUBE3","SLC26A2","SOX9","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_UPPER_AIRWAY_OBSTRUCTION":{"collection":"C5:HPO","systematicName":"M36012","pmid":"","exactSource":"HP:0002781","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002781","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UPPER_AIRWAY_OBSTRUCTION","geneSymbols":["AHDC1","BTNL2","COL11A1","DDRGK1","F12","FGFR2","FGFR3","GNE","HLA-DRB1","IDS","KCNJ6","LMNA","POR","SH3BP2","SOX9","XPNPEP2","ZMPSTE24","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RECURRENT_LOWER_RESPIRATORY_TRACT_INFECTIONS":{"collection":"C5:HPO","systematicName":"M36013","pmid":"","exactSource":"HP:0002783","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002783","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_LOWER_RESPIRATORY_TRACT_INFECTIONS","geneSymbols":["AASS","ADA","AGR2","AICDA","ALB","ALG12","ALMS1","AP3B1","ARHGEF1","ARPC1B","ATM","B3GALT6","BLNK","BTK","C1QB","C3","C4B","CARD10","CARMIL2","CAVIN1","CCDC39","CCDC40","CD19","CD247","CD27","CD3D","CD3E","CD40LG","CD55","CD79A","CD79B","CEACAM3","CEACAM6","CFAP410","CFTR","CIITA","CLCA4","CLPB","COL11A2","COL13A1","COL5A1","COL6A1","COL6A2","COL6A3","COLQ","CORO1A","CR2","CTCF","CTLA4","CXCR4","CYBA","CYBB","CYBC1","DCLRE1C","DCTN4","DDR2","DIP2B","DNAAF4","DNAH11","DOCK2","DOCK8","DRC1","DZIP1L","EDNRA","EFEMP2","EGFR","ERCC6","EXTL3","FBLN5","FBXW7","FCGR2A","FCHO1","FCN3","FMO3","FOXJ1","FUT8","G6PC3","GALNS","GAS8","GCLC","GEMIN4","GLI3","GNPTAB","GORAB","GSTM3","HFE","HMOX1","HYDIN","HYOU1","ICOS","IDH1","IDS","IFIH1","IGBP1","IGHG2","IGHM","IGKC","IGLL1","IL21R","IL2RG","IL6ST","IL7R","JAK3","KCNJ6","KCNN4","KPTN","LAMA2","LAMB2","LAT","LCK","LEP","LIG1","LMNB1","LRBA","LRRC56","LTBP1","LTBP4","MALT1","MASP2","MDFIC","MED25","MEGF10","MGAT2","MIF","MTHFD1","MYSM1","NBN","NCF1","NCF2","NDUFC2","NFE2L2","NFKB1","NFKB2","NKX2-1","NME5","NUP214","ODAD1","ODAD2","ODAD4","OFD1","ORC6","P4HTM","PEPD","PGM3","PIK3CD","PIK3R1","PKHD1","PKP1","PLOD1","PNP","POLA1","POLE","PRKCD","PRKDC","PTEN","PURA","PYROXD1","RAC1","RAC2","RAG1","RAG2","RASGRP1","RELB","RFT1","RFX5","RFX7","RFXANK","RFXAP","RNF125","RNF168","RNU4ATAC","SASH3","SATB1","SCNN1A","SCNN1B","SCNN1G","SERPINA1","SERPINH1","SETBP1","SFTPC","SIAH1","SLC11A1","SLC26A9","SLC35C1","SLC6A14","SLC9A3","SMARCA2","SMARCD2","SOX9","SREBF1","STAT3","STK36","STK4","STX1A","STX3","TBCD","TBX1","TCF3","TGFB1","TK2","TNFRSF11A","TNFRSF13B","TNFRSF13C","TNFRSF9","TONSL","TPP2","TRIM37","TTC26","UNC119","UNG","USB1","USP26","USP9X","VARS1","VPS33A","WAS","WDR1","WDR19","WDR35","ZAP70","ZBTB7A","ZNF341","ZNF668","ZNFX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_TRACHEOBRONCHOMALACIA":{"collection":"C5:HPO","systematicName":"M36014","pmid":"","exactSource":"HP:0002786","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002786","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TRACHEOBRONCHOMALACIA","geneSymbols":["EHMT1","GMNN","IDS","RAC1","SCUBE3","SLC26A2","SOX9"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_TRACHEAL_CALCIFICATION":{"collection":"C5:HPO","systematicName":"M47065","pmid":"","exactSource":"HP:0002787","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002787","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TRACHEAL_CALCIFICATION","geneSymbols":["ARSL","DDR2","EBP","LBR","MGP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_TACHYPNEA":{"collection":"C5:HPO","systematicName":"M36015","pmid":"","exactSource":"HP:0002789","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002789","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TACHYPNEA","geneSymbols":["ABCA3","ABCD4","ACADVL","ACAT1","ACTA2","AHI1","ARL13B","ARL3","ARMC9","ARSL","ATP5F1B","B9D1","B9D2","BOLA3","BTD","CA5A","CACNA1S","CASR","CBY1","CC2D2A","CDKL5","CEP104","CEP120","CEP290","CEP41","COA6","COPA","CPLANE1","CSF2RA","CSF2RB","CSPP1","FAM149B1","FARSB","FBP1","GABBR2","GET3","HLCS","HMGCL","HYLS1","IFT74","IGHMBP2","INPP5E","KATNIP","KIAA0586","KIAA0753","KIF7","LRPPRC","LYRM7","MECP2","MKS1","MT-CYB","NEK1","NHLRC2","NKX2-1","NKX2-6","NTNG1","OFD1","OXCT1","PAM16","PCCA","PCCB","PDE6D","PIBF1","PLXND1","RHAG","RHCE","RHD","RPGRIP1L","RYR1","SFTPB","SFTPC","SLC25A15","SLC34A2","SMC1A","STING1","SUFU","TCTN1","TCTN2","TCTN3","TLL1","TMEM138","TMEM216","TMEM218","TMEM231","TMEM237","TMEM67","TOGARAM1","TOPORS","UQCRC2","ZNF423"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NEONATAL_BREATHING_DYSREGULATION":{"collection":"C5:HPO","systematicName":"M36016","pmid":"","exactSource":"HP:0002790","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002790","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEONATAL_BREATHING_DYSREGULATION","geneSymbols":["AHI1","CEP290","INPP5E","RPGRIP1L","TMEM216"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPOVENTILATION":{"collection":"C5:HPO","systematicName":"M36017","pmid":"","exactSource":"HP:0002791","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002791","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOVENTILATION","geneSymbols":["ACTA1","ASCL1","CFL2","COL12A1","COL6A1","COL6A2","COL6A3","COLQ","COX11","CRLS1","DCTN1","DMD","DNAJB4","DZIP1L","FKRP","HERC2","HNRNPK","HOXA1","KLHL41","LAMA2","LAMB2","LBX1","LMOD3","MAGEL2","MECP2","MKRN3","MOGS","MYH7","MYO1H","MYPN","NDUFAF2","NDUFS6","NEB","NPAP1","P4HTM","PHOX2B","PKHD1","POLG","PURA","PWAR1","PWRN1","RET","SELENON","SETD2","SH3TC2","SLC52A3","SLC5A7","SNORD115-1","SNORD116-1","TPM2","TPM3","TTN"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_REDUCED_VITAL_CAPACITY":{"collection":"C5:HPO","systematicName":"M36018","pmid":"","exactSource":"HP:0002792","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002792","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_VITAL_CAPACITY","geneSymbols":["ACTA1","ACTN2","AGRN","AK9","CHRNA1","CHRNB1","CHRND","CHRNE","COL13A1","CRPPA","DOK7","KBTBD13","KLHL41","LRP4","MAP3K20","MUSK","MYH7","MYOT","MYPN","NEB","PYROXD1","RAPSN","SBF2","SCN4A","SELENON","TPM2","TPM3","TTN","VCP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_PATTERN_OF_RESPIRATION":{"collection":"C5:HPO","systematicName":"M36019","pmid":"","exactSource":"HP:0002793","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002793","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PATTERN_OF_RESPIRATION","geneSymbols":["AARS1","ABCA3","ABCC6","ABCC9","ABCD4","ABCG5","ABCG8","ACADM","ACADS","ACADSB","ACADVL","ACAT1","ACTA1","ACTA2","ACTC1","ACVRL1","ACY1","ADAM22","ADAMTS13","ADCY6","ADGRG1","ADNP","AFF4","AGO2","AGR2","AGRN","AHDC1","AHI1","AIFM1","AIP","AK9","ALAS2","ALG12","ALMS1","ALPL","AMER1","ANG","ANXA11","AP3D1","APOB","ARCN1","ARL13B","ARL3","ARMC9","ARSB","ARSL","ARX","ASAH1","ASCL1","ASNS","ASXL1","ATN1","ATP11A","ATP13A3","ATP1A2","ATP1A3","ATP5F1A","ATP5F1B","ATP5F1D","ATP5F1E","ATP5MK","ATP6V1B2","ATPAF1","ATPAF2","ATRX","ATXN2","B3GALT6","B9D1","B9D2","BANF1","BAP1","BCHE","BCOR","BICD2","BMP2","BMPER","BMPR2","BOLA3","BRAF","BRAT1","BTD","BTNL2","BUB1","BUB1B","BUB3","C2CD3","CA2","CA5A","CABP4","CACNA1A","CACNA1C","CACNA1H","CACNA1I","CACNA1S","CACNA2D1","CAMK2B","CASK","CASR","CAV1","CBY1","CC2D2A","CCDC47","CCN2","CCNF","CCR6","CDC42BPB","CDC45","CDC6","CDK13","CDKL5","CDON","CDT1","CEP104","CEP120","CEP290","CEP41","CEP57","CFAP410","CFL2","CFTR","CHAMP1","CHAT","CHCHD10","CHMP2B","CHRNA1","CHRNA2","CHRNA4","CHRNB1","CHRNB2","CHRND","CHRNE","CISD2","CITED2","CIZ1","CLCN7","CLCNKB","CLPB","CNTNAP1","CNTNAP2","COA6","COA8","COL12A1","COL13A1","COL1A2","COL25A1","COL2A1","COL3A1","COL4A5","COL4A6","COL6A1","COL6A2","COL6A3","COLQ","COPA","COQ2","COQ7","COX11","COX7B","CPLANE1","CPT2","CREBBP","CRH","CRLF1","CRLS1","CRYAB","CSF2RA","CSF2RB","CSPP1","CTNNB1","CTSD","CTSK","CYB5A","CYB5R3","D2HGDH","DAO","DBH","DCTN1","DDB1","DDC","DEPDC5","DHX16","DISC1","DISP1","DKK1","DLL1","DMD","DMPK","DNA2","DNAAF3","DNAJB4","DNAJB6","DNAJC21","DNASE1L3","DOK7","DPAGT1","DPH1","DPH2","DPH5","DPM1","DPM2","DPP9","DSC2","DSG2","DSP","DST","DYNC2LI1","DZIP1L","ECHS1","EDA","EDN1","EFTUD2","EIF2AK4","ELN","ENG","ENPP1","EOMES","EP300","EPHA4","EPHB4","EPOR","ERBB4","ERF","ERGIC1","ETFA","ETFB","ETFDH","EXOC2","EXT2","FAM13A","FAM149B1","FAM20C","FARS2","FARSB","FBN1","FBP1","FBXO28","FDX2","FGF13","FGF8","FGFR1","FGFR2","FGFR3","FIG4","FIP1L1","FKRP","FLCN","FLNA","FLNC","FOXE3","FOXF1","FOXH1","FOXP3","FUS","FXR1","FZR1","GAA","GABBR2","GABRA1","GABRB3","GABRG2","GALC","GAS1","GATA4","GATA5","GATA6","GBA1","GET3","GJA5","GLA","GLE1","GLI2","GLRA1","GLS","GLT8D1","GLUL","GMNN","GNA11","GNAI3","GNAS","GNB2","GNE","GNPTAB","GOSR2","GPHN","GPR101","GRB10","GRIK2","GRIN1","GRIN2A","GSN","GTPBP3","GUSB","GYG1","H4C5","HACD1","HBB","HCCS","HDAC4","HEPHL1","HERC2","HEY2","HLA-B","HLA-DPB1","HLA-DRB1","HLCS","HMGCL","HNRNPA1","HNRNPK","HOXA1","HRAS","HSPD1","HSPG2","HTRA2","HYLS1","IDH1","IDS","IDUA","IFIH1","IFNG","IFT52","IFT74","IFT81","IGHMBP2","IKZF1","IL12B","IL1RN","IL6ST","INPP5E","IPO8","IRAK1","IRF2BP2","IRF5","IRF6","ISCU","ITGA3","JAK2","JPH2","JRK","KAT6A","KAT6B","KATNB1","KATNIP","KCNA1","KCNA5","KCNE1","KCNE2","KCNJ11","KCNJ2","KCNJ3","KCNJ5","KCNJ6","KCNQ1","KCNQ2","KCNQ3","KCNT1","KIAA0586","KIAA0753","KIF20A","KIF5A","KIF7","KIT","KLHL24","KLHL41","KLHL7","KRT16","KRT17","KRT6A","KRT6B","LAMA2","LAMA3","LAMB2","LAMB3","LAMC2","LARP7","LBX1","LDLR","LDLRAP1","LGI4","LIAS","LIFR","LMNA","LMOD3","LONP1","LOX","LRP12","LRP4","LRPPRC","LRRC32","LTBP3","LYRM4","LYRM7","MAGEL2","MAPT","MARS1","MAT2A","MATR3","MCCC1","MCM3AP","MECP2","MED27","MEGF10","MFAP5","MGAT2","MGME1","MINPP1","MKRN3","MKS1","MLX","MMAA","MMAB","MMACHC","MMUT","MOG","MOGS","MPC1","MPV17","MRPL3","MRPS34","MSX1","MT-ATP6","MT-ATP8","MT-CYB","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND5","MT-ND6","MT-TE","MT-TK","MT-TL1","MT-TN","MT-TS1","MT-TV","MT-TW","MTHFR","MTM1","MUC5B","MUSK","MYBPC3","MYH11","MYH6","MYH7","MYL1","MYL2","MYL3","MYL4","MYLK","MYO1H","MYO9A","MYOZ2","MYPN","NAA10","NABP1","NACC1","NADK2","NAGS","NALCN","NAXE","NCAPG2","NDE1","NDN","NDUFA11","NDUFA2","NDUFA6","NDUFA8","NDUFAF2","NDUFB11","NDUFS1","NDUFS2","NDUFS4","NDUFS6","NDUFS8","NDUFV1","NEB","NECTIN1","NEFH","NEK1","NEMF","NFIX","NGLY1","NHLRC2","NKX2-1","NKX2-5","NKX2-6","NOD2","NODAL","NONO","NOTCH3","NPAP1","NPHP1","NPM1","NPPA","NRXN1","NTNG1","NUMA1","NUP155","NUP214","OCA2","OFD1","OPA1","OPTN","ORC1","ORC4","ORC6","OTX2","OXCT1","P4HTM","PAM16","PARN","PCCA","PCCB","PCGF2","PCK1","PCSK9","PDE6D","PDHA1","PEX13","PEX5","PFN1","PGM1","PHOX2B","PI4KA","PIBF1","PIEZO2","PIGA","PIGT","PITX2","PKHD1","PKP2","PLA2G6","PLAA","PLCB4","PLCH1","PLEC","PLPBP","PLXND1","PML","PMM2","PNKD","PNPLA2","POGZ","POLG","POLG2","POMT1","PON1","PON2","PON3","PPARGC1A","PPP1R21","PRKAG2","PRKAR1A","PRKAR1B","PRKCSH","PRKG1","PRMT7","PRNP","PRPH","PRPS1","PRR12","PRRT2","PRRX1","PSAP","PSAT1","PTCH1","PTF1A","PUF60","PURA","PWAR1","PWRN1","PYGM","RAB11B","RAI1","RANBP2","RAPSN","RARA","RARS2","RBM10","RECQL4","REEP1","RELN","RERE","RET","RHAG","RHCE","RHD","RNF125","RNF13","RNU4ATAC","RPGRIP1L","RPS26","RPS28","RPS6KA3","RRM2B","RTEL1","RUNX2","RYR1","SAT1","SATB2","SBDS","SCN1B","SCN2A","SCN2B","SCN3B","SCN4A","SCN4B","SCN5A","SCN8A","SCNN1A","SCNN1B","SCNN1G","SCO1","SCO2","SCYL2","SDCCAG8","SDHA","SELENON","SEPSECS","SERPINA1","SERPING1","SERPINH1","SETBP1","SETD2","SFTPA1","SFTPA2","SFTPB","SFTPC","SH2B3","SH3BP2","SH3TC2","SHH","SIK1","SIM1","SIN3A","SIX3","SKI","SLC12A3","SLC18A3","SLC1A3","SLC22A5","SLC25A1","SLC25A12","SLC25A15","SLC25A20","SLC25A3","SLC25A4","SLC2A1","SLC2A10","SLC31A1","SLC34A2","SLC35A1","SLC39A8","SLC52A3","SLC5A7","SLC6A5","SLC6A9","SMAD2","SMAD3","SMAD4","SMARCAL1","SMC1A","SMC5","SMPD1","SNAP25","SNORD115-1","SNORD116-1","SNRPN","SNX10","SOD1","SOX9","SPOP","SPP1","SQSTM1","SRP54","SRPX2","SSR4","STAG2","STAT2","STAT3","STAT4","STAT5B","STIL","STING1","STN1","STT3B","STX16","SUCLG1","SUFU","SURF1","SYT1","SYT2","TAF15","TARDBP","TBC1D24","TBK1","TBL1XR1","TBR1","TBX20","TBX4","TCF4","TCIRG1","TCTN1","TCTN2","TCTN3","TDGF1","TECPR2","TERC","TERT","TET2","TFAM","TFG","TGFB2","TGFB3","TGFBR1","TGFBR2","TGIF1","THSD4","TINF2","TK2","TLK2","TLL1","TMEM107","TMEM126B","TMEM138","TMEM216","TMEM218","TMEM231","TMEM237","TMEM67","TNFSF11","TNNC1","TNNI3","TNNT1","TNNT2","TOE1","TOGARAM1","TOPORS","TP63","TP73","TPI1","TPM2","TPM3","TRAK1","TREM2","TRIP11","TRIP13","TRMT10C","TRMT5","TRMU","TRPM4","TRPV4","TRPV6","TSC1","TSC2","TSEN15","TSEN2","TSEN34","TSEN54","TSFM","TSPYL1","TTC19","TTN","TUBB4A","TWIST1","TWNK","UBA1","UBE3B","UBQLN2","UNC13A","UNC80","UQCRC2","UQCRFS1","USP7","USP9X","VAMP1","VAPB","VCL","VCP","VPS33A","VPS51","WAC","WAS","WDR45B","WFS1","WIPF1","XPNPEP2","YARS2","ZBTB16","ZBTB7A","ZC4H2","ZFPM2","ZIC2","ZIC3","ZMPSTE24","ZMYM2","ZNF423"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_RESPIRATORY_SYSTEM_PHYSIOLOGY":{"collection":"C5:HPO","systematicName":"M47066","pmid":"","exactSource":"HP:0002795","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002795","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RESPIRATORY_SYSTEM_PHYSIOLOGY","geneSymbols":["AAAS","AARS1","ABCA12","ABCA3","ABCB11","ABCB4","ABCC6","ABCC9","ABCD4","ABCG5","ABCG8","ACADM","ACADS","ACADSB","ACADVL","ACAN","ACAT1","ACE","ACOX1","ACP5","ACTA1","ACTA2","ACTC1","ACTN2","ACVR1","ACVRL1","ACY1","ADA","ADAM22","ADAMTS13","ADAMTS3","ADCY6","ADGRG1","ADGRG6","ADNP","ADPRS","AFF3","AFF4","AGGF1","AGK","AGO2","AGR2","AGRN","AGT","AGTPBP1","AGTR1","AHCY","AHDC1","AHI1","AIFM1","AIP","AK9","AKT1","ALAD","ALAS2","ALDH1A2","ALDH7A1","ALG1","ALG12","ALG14","ALG9","ALMS1","ALOX5","ALPL","AMER1","AMT","ANG","ANXA11","AP3D1","APC","APOB","ARCN1","ARHGAP31","ARL13B","ARL2BP","ARL3","ARL6","ARMC9","ARSB","ARSL","ARV1","ARVCF","ARX","ASAH1","ASCC1","ASCL1","ASNS","ASXL1","ATAD1","ATL1","ATL3","ATN1","ATP11A","ATP13A3","ATP1A2","ATP1A3","ATP5F1A","ATP5F1B","ATP5F1D","ATP5F1E","ATP5MK","ATP6V1B2","ATP8B1","ATPAF1","ATPAF2","ATRX","ATXN1","ATXN2","ATXN8OS","B3GALT6","B9D1","B9D2","BAG3","BANF1","BAP1","BBS1","BCHE","BCL11B","BCOR","BDNF","BICD2","BIN1","BLM","BLNK","BMP2","BMPER","BMPR2","BOLA3","BRAF","BRAT1","BSCL2","BTD","BTK","BTNL2","BUB1","BUB1B","BUB3","C2CD3","C4A","C4B","CA2","CA5A","CABP4","CACNA1A","CACNA1C","CACNA1D","CACNA1H","CACNA1I","CACNA1S","CACNA2D1","CAMK2B","CANT1","CARD10","CARD11","CARMIL2","CARS1","CASK","CASP8","CASR","CAV1","CBS","CBY1","CC2D2A","CCBE1","CCDC103","CCDC174","CCDC28B","CCDC39","CCDC40","CCDC47","CCDC65","CCL11","CCN2","CCNF","CCNO","CCR1","CCR6","CD19","CD40LG","CD55","CD79A","CD79B","CD81","CDC42BPB","CDC45","CDC6","CDK13","CDKL5","CDKN1C","CDON","CDSN","CDT1","CEACAM3","CEACAM6","CEP104","CEP120","CEP290","CEP41","CEP57","CFAP221","CFAP298","CFAP300","CFAP410","CFAP45","CFAP52","CFAP74","CFL2","CFTR","CHAMP1","CHAT","CHCHD10","CHD7","CHMP2B","CHRNA1","CHRNA2","CHRNA4","CHRNB1","CHRNB2","CHRND","CHRNE","CHRNG","CHST3","CISD2","CITED2","CIZ1","CLCA4","CLCF1","CLCN6","CLCN7","CLCNKB","CLEC7A","CLPB","CNOT1","CNTN1","CNTNAP1","CNTNAP2","COA6","COA8","COG1","COG7","COL11A1","COL11A2","COL12A1","COL13A1","COL1A1","COL1A2","COL25A1","COL2A1","COL3A1","COL4A5","COL4A6","COL6A1","COL6A2","COL6A3","COLQ","COMT","COPA","COQ2","COQ4","COQ7","COQ9","COX11","COX14","COX4I2","COX5A","COX6A2","COX6B1","COX7B","COX8A","CPLANE1","CPOX","CPS1","CPT2","CR2","CREBBP","CRH","CRLF1","CRLS1","CRPPA","CRYAB","CSF2RA","CSF2RB","CSGALNACT1","CSPP1","CTCF","CTLA4","CTNNB1","CTSD","CTSK","CUL7","CYB5A","CYB5R3","CYBA","CYBB","CYBC1","CYP27A1","D2HGDH","DAG1","DAO","DAXX","DBH","DCTN1","DCTN4","DCX","DDB1","DDC","DDR2","DDRGK1","DDX3X","DDX41","DEF6","DEPDC5","DES","DHX16","DISC1","DISP1","DKC1","DKK1","DLEC1","DLK1","DLL1","DLL3","DLL4","DMD","DMPK","DNA2","DNAAF1","DNAAF11","DNAAF2","DNAAF3","DNAAF4","DNAAF5","DNAAF6","DNAH1","DNAH11","DNAH5","DNAH9","DNAI1","DNAI2","DNAJB13","DNAJB4","DNAJB6","DNAJC21","DNAL1","DNASE1L3","DNM1L","DNM2","DOCK6","DOCK8","DOK7","DOLK","DPAGT1","DPH1","DPH2","DPH5","DPM1","DPM2","DPP9","DPYD","DRC1","DSC2","DSG2","DSP","DST","DTYMK","DYM","DYNC2H1","DYNC2I1","DYNC2I2","DYNC2LI1","DYSF","DZIP1L","ECHS1","EDA","EDN1","EDN3","EDNRA","EFEMP2","EFTUD2","EGR2","EIF2AK4","ELN","ELOVL4","ELP1","EMD","ENG","ENPP1","EOGT","EOMES","EP300","EPHA4","EPHB4","EPOR","ERAP1","ERBB3","ERBB4","ERCC2","ERCC3","ERF","ERGIC1","ETFA","ETFB","ETFDH","EXOC2","EXOSC3","EXOSC8","EXOSC9","EXT2","F12","F13A1","F2","F8","FAM111B","FAM13A","FAM149B1","FAM20C","FARS2","FARSA","FARSB","FAS","FAT4","FBLN5","FBN1","FBP1","FBXO28","FCGR2A","FCGR3A","FCSK","FDX2","FGF13","FGF8","FGFR1","FGFR2","FGFR3","FHL1","FIG4","FIP1L1","FKBP10","FKRP","FKTN","FLAD1","FLCN","FLG","FLNA","FLNB","FLNC","FOCAD","FOXE1","FOXE3","FOXF1","FOXG1","FOXH1","FOXI1","FOXJ1","FOXP1","FOXP2","FOXP3","FOXRED1","FREM2","FRG1","FUS","FXR1","FZR1","G6PC3","GAA","GABBR2","GABRA1","GABRA3","GABRB3","GABRG2","GALC","GALK1","GALNS","GARS1","GAS1","GAS2L2","GAS8","GATA2","GATA4","GATA5","GATA6","GBA1","GCLC","GDAP1","GDF2","GDNF","GET3","GFPT1","GFRA1","GGPS1","GGT1","GIPC1","GJA5","GLA","GLB1","GLE1","GLI2","GLI3","GLRA1","GLS","GLT8D1","GLUL","GLYCTK","GM2A","GMNN","GMPPA","GMPPB","GNA11","GNAI3","GNAQ","GNAS","GNB1","GNB2","GNE","GNPTAB","GOSR2","GP1BA","GP1BB","GP9","GPC3","GPC4","GPHN","GPR101","GPX4","GRB10","GRHL2","GRIK2","GRIN1","GRIN2A","GRM7","GSC","GSN","GSTM3","GTF2E2","GTF2H5","GTPBP3","GUSB","GYG1","H4C5","HABP2","HACD1","HADHA","HADHB","HBB","HCCS","HCK","HDAC4","HEPHL1","HERC2","HES7","HEXA","HEY2","HFE","HIBCH","HIRA","HLA-B","HLA-DPA1","HLA-DPB1","HLA-DQA1","HLA-DQB1","HLA-DRB1","HLA-G","HLCS","HMBS","HMGA2","HMGCL","HMOX1","HNMT","HNRNPA1","HNRNPA2B1","HNRNPK","HOXA1","HPDL","HPS1","HPS4","HRAS","HSD3B2","HSPD1","HSPG2","HTRA2","HYDIN","HYLS1","HYMAI","IBA57","ICOS","IDH1","IDS","IDUA","IFIH1","IFNG","IFNGR1","IFT140","IFT172","IFT52","IFT74","IFT80","IFT81","IGF2","IGHG2","IGHM","IGHMBP2","IGKC","IGLL1","IKBKG","IKZF1","IL10","IL12A","IL12A-AS1","IL12B","IL13","IL17F","IL17RA","IL17RC","IL1RN","IL21R","IL23R","IL2RG","IL4R","IL6ST","INPP5E","INPP5K","INPPL1","INVS","IPO8","IRAK1","IRF2BP2","IRF4","IRF5","IRF6","ISCU","ITCH","ITGA3","ITGA7","JAG1","JAG2","JAK1","JAK2","JMJD1C","JPH2","JRK","JUP","KARS1","KAT6A","KAT6B","KATNB1","KATNIP","KBTBD13","KCNA1","KCNA5","KCNE1","KCNE2","KCNE3","KCNJ10","KCNJ11","KCNJ18","KCNJ2","KCNJ3","KCNJ5","KCNJ6","KCNK3","KCNN4","KCNQ1","KCNQ2","KCNQ3","KCNT1","KIAA0319L","KIAA0586","KIAA0753","KIF20A","KIF21A","KIF22","KIF5A","KIF7","KIT","KLHL24","KLHL40","KLHL41","KLHL7","KLRC4","KMT2D","KNSTRN","KRAS","KRT16","KRT17","KRT18","KRT6A","KRT6B","KYNU","LAMA2","LAMA3","LAMB2","LAMB3","LAMC2","LAMP2","LARGE1","LARP7","LARS2","LAT","LBR","LBX1","LDLR","LDLRAP1","LFNG","LGI4","LIAS","LIFR","LIG4","LIPT1","LIPT2","LMNA","LMOD3","LMX1B","LONP1","LOX","LPIN2","LRBA","LRP12","LRP4","LRP5","LRPPRC","LRRC32","LRRC56","LRRC8A","LTBP1","LTBP3","LTBP4","LYRM4","LYRM7","MADD","MAGEL2","MAMLD1","MAP3K20","MAP3K7","MAPT","MARS1","MAT2A","MATR3","MB","MCCC1","MCCC2","MCIDAS","MCM3AP","MCM4","MDFIC","MECP2","MED11","MED12","MED25","MED27","MEFV","MEG3","MEGF10","MESP2","MFAP5","MFN2","MGAT2","MGME1","MGP","MIA3","MICOS13","MID1","MIF","MINPP1","MIR140","MKRN3","MKS1","MLX","MLYCD","MMAA","MMAB","MMACHC","MMP1","MMUT","MOG","MOGS","MORC2","MPC1","MPEG1","MPL","MPLKIP","MPV17","MPZ","MRPL3","MRPS14","MRPS34","MS4A1","MS4A2","MSX1","MT-ATP6","MT-ATP8","MT-CO1","MT-CO2","MT-CO3","MT-CYB","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND5","MT-ND6","MT-TE","MT-TF","MT-TH","MT-TK","MT-TL1","MT-TL2","MT-TN","MT-TQ","MT-TS1","MT-TS2","MT-TT","MT-TV","MT-TW","MTFMT","MTHFR","MTM1","MTMR14","MTOR","MTTP","MUC5B","MUC7","MUSK","MYBPC1","MYBPC3","MYD88","MYF6","MYH11","MYH3","MYH6","MYH7","MYL1","MYL2","MYL3","MYL4","MYLK","MYMK","MYO1H","MYO9A","MYOD1","MYOT","MYOZ2","MYPN","NAA10","NABP1","NACC1","NADK2","NAGS","NALCN","NAXE","NBN","NCAPG2","NCF1","NCF2","NCF4","NDE1","NDN","NDUFA1","NDUFA10","NDUFA11","NDUFA2","NDUFA6","NDUFA8","NDUFA9","NDUFAF1","NDUFAF2","NDUFAF3","NDUFAF4","NDUFAF5","NDUFAF6","NDUFAF8","NDUFB10","NDUFB11","NDUFB3","NDUFB8","NDUFB9","NDUFS1","NDUFS2","NDUFS3","NDUFS4","NDUFS6","NDUFS7","NDUFS8","NDUFV1","NDUFV2","NEB","NECTIN1","NEFH","NEK1","NEK10","NEK9","NEMF","NF1","NF2","NFASC","NFIX","NFKB1","NFKB2","NFS1","NFU1","NGLY1","NHLRC2","NKX2-1","NKX2-5","NKX2-6","NLRP3","NME5","NME8","NOD2","NODAL","NONO","NOS1","NOTCH1","NOTCH2NLC","NOTCH3","NPAP1","NPC2","NPHP1","NPHS1","NPM1","NPPA","NR1H4","NRXN1","NSF","NSUN2","NTNG1","NUBPL","NUMA1","NUP155","NUP188","NUP214","NUP88","NUTM2B-AS1","OAS1","OCA2","OCRL","ODAD1","ODAD2","ODAD3","ODAD4","ODC1","OFD1","OPA1","OPTN","ORAI1","ORC1","ORC4","ORC6","OSTM1","OTX2","OXCT1","P4HA2","P4HTM","PAM16","PANK2","PARN","PAX2","PAX7","PAX8","PBX1","PCCA","PCCB","PCGF2","PCK1","PCSK9","PDE6D","PDGFB","PDHA1","PDSS1","PEPD","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PEX7","PFN1","PGM1","PGM3","PHOX2B","PHYH","PI4KA","PIBF1","PIEZO1","PIEZO2","PIGA","PIGN","PIGT","PIGY","PIK3CA","PIK3CD","PIK3R1","PIP5K1C","PITX2","PKHD1","PKP2","PLA2G6","PLA2G7","PLAA","PLAG1","PLAGL1","PLCB3","PLCB4","PLCG2","PLCH1","PLEC","PLEKHG5","PLOD1","PLOD2","PLP1","PLPBP","PLXND1","PML","PMM2","PMP22","PNKD","PNPLA2","POGLUT1","POGZ","POLG","POLG2","POLR1B","POLR1C","POLR1D","POMK","POMT1","POMT2","PON1","PON2","PON3","POR","PPARGC1A","PPCS","PPOX","PPP1R21","PRDM13","PRIM1","PRKAG2","PRKAR1A","PRKAR1B","PRKCD","PRKCSH","PRKG1","PRMT7","PRNP","PROC","PROS1","PRPH","PRPS1","PRR12","PRRT2","PRRX1","PRTN3","PRUNE1","PSAP","PSAT1","PTCD3","PTCH1","PTEN","PTF1A","PTGER2","PTPN22","PTRH2","PUF60","PURA","PUS1","PWAR1","PWRN1","PYGM","PYROXD1","RAB11B","RAC2","RAI1","RALGAPA1","RANBP2","RAPSN","RARA","RARS2","RBM10","RBPJ","RECQL4","REEP1","RELB","RELN","REN","RERE","RET","RFC1","RFT1","RFX7","RHAG","RHCE","RHD","RIC1","RILPL1","RIPK1","RIPPLY2","RMND1","RMRP","RNASEH1","RNASEH2A","RNF113A","RNF125","RNF13","RNF168","RNF6","RNU4ATAC","RPA1","RPGR","RPGRIP1L","RPL3L","RPS26","RPS28","RPS6KA3","RREB1","RRM2B","RSPH1","RSPH3","RSPH4A","RSPH9","RTEL1","RTL1","RUNX2","RYR1","SARS2","SAT1","SATB2","SBDS","SBF2","SCARB2","SCARF2","SCGB3A2","SCN1B","SCN2A","SCN2B","SCN3B","SCN4A","SCN4B","SCN5A","SCN8A","SCN9A","SCNN1A","SCNN1B","SCNN1G","SCO1","SCO2","SCYL2","SDCCAG8","SDHA","SDHD","SEC24C","SEC31A","SEC63","SELENON","SEMA3E","SEPSECS","SEPTIN9","SERPINA1","SERPINC1","SERPING1","SERPINH1","SETBP1","SETD2","SF3B4","SFTPA1","SFTPA2","SFTPB","SFTPC","SGCG","SH2B3","SH3BP2","SH3TC2","SHH","SHPK","SIK1","SIK3","SIM1","SIN3A","SIX3","SKI","SLC11A1","SLC12A3","SLC12A6","SLC18A2","SLC18A3","SLC19A3","SLC1A3","SLC22A5","SLC25A1","SLC25A12","SLC25A15","SLC25A20","SLC25A21","SLC25A24","SLC25A26","SLC25A3","SLC25A4","SLC25A46","SLC26A2","SLC26A4","SLC26A9","SLC27A4","SLC29A3","SLC2A1","SLC2A10","SLC30A9","SLC31A1","SLC34A2","SLC35A1","SLC37A4","SLC39A7","SLC39A8","SLC41A1","SLC4A1","SLC52A2","SLC52A3","SLC5A7","SLC6A14","SLC6A5","SLC6A9","SLC7A7","SLC9A3","SMAD2","SMAD3","SMAD4","SMAD9","SMARCAL1","SMARCB1","SMARCE1","SMC1A","SMC5","SMN1","SMO","SMPD1","SMPD4","SMPX","SNAP25","SNORD115-1","SNORD116-1","SNRPB","SNRPN","SNX10","SOD1","SON","SOX9","SP110","SPAG1","SPEF2","SPEG","SPG11","SPI1","SPINK5","SPOP","SPP1","SPTLC1","SPTLC2","SQSTM1","SREBF1","SRP54","SRPX2","SSR4","STAC3","STAG2","STAT1","STAT2","STAT3","STAT4","STAT5B","STIL","STIM1","STING1","STK36","STN1","STRA6","STT3B","STX16","STX1A","STXBP1","SUCLA2","SUCLG1","SUFU","SURF1","SYNE1","SYNE2","SYT1","SYT2","TAF15","TALDO1","TARDBP","TARS1","TBC1D24","TBCD","TBCK","TBK1","TBL1XR1","TBR1","TBX1","TBX20","TBX21","TBX4","TCF3","TCF4","TCIRG1","TCOF1","TCTN1","TCTN2","TCTN3","TDGF1","TECPR2","TERC","TERT","TET2","TFAM","TFG","TGFB1","TGFB2","TGFB3","TGFBR1","TGFBR2","TGIF1","THBD","THPO","THSD1","THSD4","TICAM1","TIMMDC1","TINF2","TK2","TLK2","TLL1","TLR3","TLR4","TMEM107","TMEM126B","TMEM138","TMEM216","TMEM218","TMEM231","TMEM237","TMEM43","TMEM67","TMEM70","TNF","TNFRSF13B","TNFRSF13C","TNFSF11","TNFSF12","TNNC1","TNNC2","TNNI3","TNNT1","TNNT2","TNPO3","TOE1","TOGARAM1","TOM1","TOPORS","TOR1A","TOR1AIP1","TP63","TP73","TPI1","TPM2","TPM3","TRAF3","TRAF3IP2","TRAF7","TRAIP","TRAK1","TRAPPC11","TREM2","TRIM2","TRIP11","TRIP13","TRIP4","TRMT10C","TRMT5","TRMU","TRPM4","TRPV4","TRPV6","TRRAP","TSC1","TSC2","TSEN15","TSEN2","TSEN34","TSEN54","TSFM","TSPYL1","TTC12","TTC19","TTC21B","TTC26","TTN","TUBA1A","TUBB4A","TUFM","TWIST1","TWNK","TXNDC15","UBA1","UBAC2","UBE2A","UBE3B","UBQLN2","UFD1","UFM1","UNC13A","UNC45A","UNC45B","UNC80","UNC93B1","UQCRC2","UQCRFS1","USP18","USP7","USP9X","VAC14","VAMP1","VAPB","VARS2","VCL","VCP","VHL","VMA21","VPS33A","VPS51","VRK1","WAC","WAS","WDR11","WDR19","WDR35","WDR45B","WFS1","WIPF1","WT1","WWOX","XPNPEP2","XYLT1","XYLT2","YARS2","ZBTB16","ZBTB7A","ZC4H2","ZFPM2","ZIC2","ZIC3","ZMPSTE24","ZMYM2","ZMYND10","ZNF148","ZNF423","ZNF699","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_OSTEOLYSIS":{"collection":"C5:HPO","systematicName":"M36021","pmid":"","exactSource":"HP:0002797","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002797","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OSTEOLYSIS","geneSymbols":["ANTXR2","APC","ASAH1","ASXL1","ATL3","ATP7A","BANF1","BUB1","BUB1B","BUB3","CAV1","CBL","CCN2","CCR6","CDKN1A","CDKN1B","CDKN2B","CDKN2C","CEP57","CHEK2","COL3A1","CTNNB1","CTSC","CTSK","DDR2","ELMO2","ELP1","FGFR1","FLNA","GATA1","GBA1","GJB2","HLA-DRB1","HNRNPA1","HNRNPA2B1","HPGD","IDH1","IDH2","IFIH1","IKBKG","IL1RN","IRF5","KIF1A","KRAS","LMNA","MAFB","MAN2B1","MBTPS2","MEN1","MMP14","MMP2","MTX2","NF1","NOTCH2","NOTCH3","PDGFRB","PERP","PIGL","PTH1R","RB1","RETREG1","RIGI","RUNX1","SCARB2","SCN9A","SH3PXD2B","SLC29A3","SLCO2A1","SQSTM1","SRSF2","TET2","TNFRSF11A","TP53","TRIP13","TRPV3","UROD","UROS","VCP","VDR","WNK1","ZBTB20","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CONGENITAL_CONTRACTURE":{"collection":"C5:HPO","systematicName":"M36022","pmid":"","exactSource":"HP:0002803","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002803","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONGENITAL_CONTRACTURE","geneSymbols":["ABCC8","ACADM","ACTA1","ADAT3","ADCY6","ADGRG1","ADGRG6","AGRN","AGTPBP1","ALG14","ALG3","ASCC1","ASXL1","ATAD1","AUTS2","BICD2","BLTP1","CACNA1E","CAPN3","CCDC47","CDK5","CEP55","CFL2","CHAT","CHMP1A","CHRNA1","CHRNE","CHRNG","CHST14","CLCN3","CNTNAP1","COL12A1","COL13A1","DHCR24","DNM2","DOK7","DPM2","DSE","ERBB3","ERCC1","ERCC2","ERCC5","ERCC6","ERGIC1","EXOC7","EXOSC3","EXOSC8","EXOSC9","FAM20C","FBN2","FIG4","FKBP10","FKRP","FKTN","GBA1","GBE1","GCK","GFM2","GFPT1","GLDN","GLE1","GLI3","GNB2","GNPTAB","HSPG2","IBA57","INS","ITGB4","KAT6B","KBTBD13","KCNJ11","KCNK9","KIDINS220","KIF14","KIF1A","KIF21A","KIF26A","KIF5C","KLHL40","KLHL41","LAMA5","LARGE1","LGI4","LMNA","LMOD3","LZTR1","MAGEL2","MED13L","MORC2","MTRFR","MUSK","MYBPC1","MYH2","MYH3","MYH8","MYO9A","MYOD1","MYPN","NALCN","NEB","NEK9","NRCAM","NUP88","OTUD5","PAX7","PDX1","PI4KA","PIEZO2","PIGS","PIP5K1C","PLEC","PLOD2","PLXND1","POMT1","POMT2","PPP3CA","PRG4","RAPSN","REEP1","REV3L","RFT1","RIPK4","RYR3","SCN4A","SCYL2","SHPK","SLC18A3","SLC25A1","SLC25A46","SLC35A3","SLC5A7","SLC6A9","SLC9A6","SMPD4","SNAP25","SOX10","SRPX2","STAC3","STAT3","SYNE1","SYT2","TBCD","TBX4","TGFB3","TNNI2","TOR1A","TPM2","TPM3","TRIP13","TRIP4","TRPV4","TSEN54","TUBA1A","UBA1","VAMP1","VIPAS39","VPS33B","VRK1","YY1","ZBTB42","ZC4H2","ZMPSTE24","ZNF335","ZNHIT3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ARTHROGRYPOSIS_MULTIPLEX_CONGENITA":{"collection":"C5:HPO","systematicName":"M36023","pmid":"","exactSource":"HP:0002804","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002804","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ARTHROGRYPOSIS_MULTIPLEX_CONGENITA","geneSymbols":["ABCC8","ACTA1","ADGRG6","AGRN","AGTPBP1","ALG3","ASCC1","AUTS2","BICD2","BLTP1","CACNA1E","CDK5","CEP55","CFL2","CHAT","CHMP1A","CHRNA1","CHRNE","CHRNG","CHST14","CLCN3","CNTNAP1","COL13A1","DHCR24","DOK7","DSE","ERBB3","ERCC1","ERCC2","ERCC5","ERCC6","ERGIC1","EXOC7","EXOSC3","EXOSC8","EXOSC9","FAM20C","FBN2","FKBP10","GBA1","GBE1","GCK","GFM2","GFPT1","GLE1","GNB2","GNPTAB","HSPG2","IBA57","INS","ITGB4","KAT6B","KBTBD13","KCNJ11","KIDINS220","KIF14","KIF1A","KIF21A","KIF5C","KLHL40","KLHL41","LAMA5","LGI4","LMNA","LMOD3","LZTR1","MAGEL2","MTRFR","MUSK","MYBPC1","MYH3","MYH8","MYO9A","MYOD1","MYPN","NALCN","NEB","NEK9","NUP88","OTUD5","PDX1","PI4KA","PIEZO2","PIGS","PIP5K1C","PLEC","PLOD2","PLXND1","PPP3CA","RAPSN","REV3L","RFT1","RIPK4","SCYL2","SHPK","SLC18A3","SLC25A1","SLC25A46","SLC35A3","SLC5A7","SLC6A9","SLC9A6","SMPD4","SNAP25","SOX10","STAC3","STAT3","SYNE1","SYT2","TBCD","TNNI2","TOR1A","TPM2","TPM3","TRIP13","TRIP4","TRPV4","TSEN54","TUBA1A","UBA1","VAMP1","VIPAS39","VPS33B","VRK1","ZBTB42","ZC4H2","ZMPSTE24","ZNF335","ZNHIT3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_KYPHOSIS":{"collection":"C5:HPO","systematicName":"M36024","pmid":"","exactSource":"HP:0002808","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002808","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_KYPHOSIS","geneSymbols":["AARS1","ABCC6","ABL1","ACP5","ACTA1","ACTB","AEBP1","AGA","AGRN","AIFM1","AIMP1","AIMP2","AIP","AKT1","ALDH18A1","ALDH3A2","ALG1","ALG9","ALMS1","AMER1","ANKRD11","AP1G1","APC2","ARID1B","ARID2","ARSB","ARSL","ASXL2","ATAD1","ATG7","ATP6V0A2","ATP6V1A","ATP6V1B2","ATP6V1E1","ATP7A","ATRX","AUTS2","B3GALT6","B4GALT7","BAZ1B","BCL7B","BCOR","BGN","BICD2","BIN1","BMP1","BRAF","BUD23","CANT1","CARS1","CASZ1","CBS","CCDC22","CCDC32","CCDC8","CCN6","CDH11","CDKL5","CFL2","CHAT","CHRNG","CHST14","CHST3","CLCF1","CLIC2","CLIP2","CLP1","COG1","COL12A1","COL13A1","COL1A1","COL1A2","COL2A1","COL6A1","COL6A2","COL6A3","COMP","COPB1","CPLX1","CRLF1","CRPPA","CRTAP","CSF1R","CTBP1","CTDP1","CTSK","CUL4B","CUL7","CYP27A1","DCC","DHCR7","DICER1","DKK1","DLK1","DLL3","DMD","DNA2","DNAJC30","DNMT3A","DPYSL5","DSE","DSTYK","DVL1","DVL3","DYM","DYRK1A","EBP","EGR2","EIF4H","ELN","EMD","ERCC1","ERCC2","ERCC3","ERCC6","ERCC8","ERLIN2","EXTL3","EZH2","FA2H","FARS2","FBN1","FBN2","FBXO28","FGFR3","FGFRL1","FHL1","FIG4","FKBP10","FKBP14","FKBP6","FKRP","FKTN","FLNA","FLNB","FLVCR1","FOXC2","FOXG1","FUCA1","FUT8","GABBR2","GABRD","GALNS","GBA1","GBA2","GDAP1","GJB1","GLB1","GLE1","GLS","GNAS","GNPTAB","GNPTG","GORAB","GPR101","GRIA3","GTF2E2","GTF2H5","GTF2I","GTF2IRD1","GTF2IRD2","GTPBP2","GUSB","GZF1","H1-4","H4C9","HACD1","HACE1","HDAC4","HECTD4","HERC1","HERC2","HES7","HGD","HGSNAT","HLA-B","HMGB3","HRAS","HS2ST1","HSPG2","HTRA1","HTT","IDS","IDUA","IKBKG","INPP5K","IPO8","ITGA7","JAG1","JPH1","KANSL1","KCNA1","KCNAB2","KCNN3","KIF22","KLC2","KLHL41","KLLN","KMT2C","KMT2E","KRAS","KY","L1CAM","LAMA2","LBR","LETM1","LFNG","LGI3","LHX3","LIMK1","LMNA","LMOD3","LRP5","LUZP1","MADD","MAGEL2","MAN2B1","MAP2K1","MAP3K20","MAPK8IP3","MAPT","MBTPS1","MBTPS2","MCM3AP","MECP2","MED12L","MED25","MEG3","MEGF8","MEIS2","MESD","MESP2","METTL27","MFN2","MGAT2","MGME1","MKRN3","MLXIPL","MMP14","MMP2","MMP23B","MPLKIP","MPZ","MRPS34","MTTP","MVK","MYH3","MYL2","MYO1H","MYO9A","NAA10","NARS1","NCF1","NDRG1","NDUFAF1","NDUFAF4","NDUFS3","NEB","NELFA","NEMF","NEPRO","NEU1","NF1","NFIX","NKX3-2","NONO","NOTCH2","NOTCH3","NPAP1","NPR2","NRAS","NSD1","NSD2","NSDHL","NTNG1","NUP107","NUP88","NXN","OBSL1","OCRL","P3H1","P4HB","P4HTM","PAPSS2","PDE11A","PDPN","PEX7","PHF6","PHF8","PI4KA","PIEZO2","PIGG","PIK3C2A","PIK3CA","PIK3R2","PLAA","PLOD1","PLOD2","PMM2","PMP22","PNKP","POLD1","POLR3A","POMT1","POP1","PPIB","PPP1R12A","PPP1R15B","PRDM13","PRDM16","PRKAR1A","PRKCZ","PRKG2","PRPS1","PRX","PTCH1","PTDSS1","PTEN","PTPN11","PUF60","PUS1","PWAR1","PWRN1","RAB18","RAB23","RAB3GAP1","RAB3GAP2","RBM28","RECQL4","RERE","RET","RFC2","RIPPLY2","RMRP","RNF113A","RNU12","ROBO3","ROR2","RPS6KA3","RSPRY1","RTL1","RUNX2","RYR1","SBF2","SCARB2","SCN4A","SDHB","SDHC","SDHD","SEC23B","SEC24D","SELENON","SETBP1","SETD2","SETD5","SH2B1","SH3PXD2B","SHROOM4","SIL1","SIN3A","SKI","SLC10A7","SLC16A2","SLC18A3","SLC1A2","SLC25A1","SLC26A2","SLC39A13","SLC52A2","SLC52A3","SLC5A7","SLITRK2","SMARCAL1","SMC1A","SMC5","SMS","SNAP25","SNORD115-1","SNORD116-1","SNRPB","SNX14","SON","SOX9","SPARC","SPART","SPEN","SPG11","SPRED2","SPTBN1","SRCAP","SRD5A3","STAC3","STX1A","SURF1","SVIL","SYNE1","SYNE2","SYT2","TAF1","TARS1","TBC1D20","TBL2","TBX2","TBX5","TCF12","TCTN3","TELO2","TFAP2A","TGFB1","TGFB3","TLK2","TMEM147","TMEM165","TMEM231","TMEM270","TMEM43","TNFRSF11B","TNNT1","TONSL","TOR1A","TPI1","TPM2","TPM3","TRAPPC2","TRIO","TRMT10A","TRPV4","TTC5","TTI2","TUBB3","TUBB4A","UBA1","UBE4B","UBTF","UFSP2","UPF3B","USF3","USP7","USP8","VAMP1","VPS13B","VPS33A","VPS35L","VPS37A","VPS37D","WASHC5","WDR11","WDR45B","WDR81","WIPI2","WNT1","WNT3A","XYLT2","YARS2","ZBTB20","ZC4H2","ZMPSTE24","ZNF407"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_COXA_VARA":{"collection":"C5:HPO","systematicName":"M36025","pmid":"","exactSource":"HP:0002812","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002812","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_COXA_VARA","geneSymbols":["ADAMTS2","ADAMTSL2","AIFM1","ATP6V0A2","ATP7A","CANT1","CCN6","CFAP410","COL10A1","COL1A1","COL1A2","COL27A1","COL2A1","COL9A1","COL9A2","COL9A3","COMP","CRTAP","CSGALNACT1","DDRGK1","DMP1","DNAJC21","DVL1","DVL3","DYM","ENPP1","EXT1","EXT2","FKBP10","FLNB","FN1","FZD2","HSPG2","IHH","KDELR2","MATN3","MEGF8","MMP13","NFIX","NKX3-2","ORC6","PCNT","PCYT1A","PEX5","POP1","PRG4","RAD21","RMRP","RNU4ATAC","RPL13","RSPRY1","RUNX2","SBDS","SERPINF1","SLC26A2","SLC2A10","SRP54","TBX4","TCIRG1","TONSL","TRAPPC2","TRPV4","UFSP2","WNT5A","XYLT1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_KNEE":{"collection":"C5:HPO","systematicName":"M36026","pmid":"","exactSource":"HP:0002815","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002815","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_KNEE","geneSymbols":["ABCC6","ACAN","ACTA1","ADGRV1","ADNP","AEBP1","AIFM1","ALDH18A1","ALG14","ALG2","ANAPC1","ANKLE2","ANKRD55","ANO5","AP4B1","AP4E1","AP4M1","AP4S1","ARF1","ARFGEF2","ARID1B","ARL6IP1","ARSB","ARSK","ARVCF","ASAH1","ATP6V1E1","ATP7A","ATRX","B3GALT6","B3GAT3","B4GALT7","BAG3","BAZ1B","BCL7B","BCOR","BGN","BHLHA9","BICD2","BMP1","BPNT2","BRAF","BRF1","BUD23","C19orf12","CAMK2A","CANT1","CBFB","CBS","CCN6","CD247","CDC45","CDC6","CDT1","CENPT","CFL2","CHRNB1","CHRNG","CHST11","CHST3","CLCN7","CLIP2","CNTNAP1","COG5","COL10A1","COL11A1","COL12A1","COL1A1","COL1A2","COL25A1","COL2A1","COL5A1","COL5A2","COL6A1","COL6A2","COL6A3","COL7A1","COL9A1","COL9A2","COL9A3","COLQ","COMP","COMT","COX11","CPT2","CREBBP","CSGALNACT1","CTC1","CTDP1","CTNS","CYP19A1","CYP27B1","CYP2R1","CYP3A4","DDR2","DDRGK1","DHX16","DMD","DMP1","DNAJC30","DNMT3A","DONSON","DPAGT1","DPM1","DPYSL5","DYM","DYNC2LI1","DYSF","EBP","ECEL1","EFL1","EIF2AK3","EIF4H","ELN","EMD","ENPP1","EP300","ERCC1","ERCC6","ERGIC1","ERLIN1","ERLIN2","ERMARD","ESCO2","EVC","EVC2","EXOC6B","EXT1","EXT2","EZH2","FBLN5","FBN1","FBN2","FDFT1","FGD1","FGFR3","FHL1","FKBP10","FKBP6","FLNA","FLNB","FLNC","FN1","FZD2","GABRA1","GABRD","GABRG2","GALNS","GAN","GDF5","GFPT1","GJB2","GJB6","GLB1","GLI1","GLI3","GMNN","GMPPB","GNB2","GNPTAB","GNPTG","GP1BB","GPC6","GRIA3","GTF2I","GTF2IRD1","GTF2IRD2","GUSB","H3-3B","HACD1","HBB","HCN1","HEATR3","HERC2","HGD","HIRA","HNRNPH1","HPGD","HRAS","HS2ST1","HS6ST1","HSPG2","HYAL1","IARS2","IDH1","IDUA","IFIH1","IFT172","IFT57","IHH","IL2RA","IL2RB","IL6ST","IPO8","ITGA7","JAG2","JMJD1C","KAT6A","KAT6B","KIF1A","KIF22","KIF7","KLHL41","KRAS","KRT5","KY","LAMB2","LBR","LGI4","LIFR","LIMK1","LMBR1","LMBRD2","LMOD3","LMX1B","LONP1","LTBP1","MAB21L2","MAGEL2","MAN2B1","MAN2C1","MAP1B","MAP2K1","MAP2K2","MAP3K20","MAP3K7","MAPK8IP3","MATN3","MCOLN1","MCTP2","MEFV","MEGF10","MEGF8","METTL27","MIA3","MKRN3","MLXIPL","MMP13","MMP9","MPZ","MTX2","MYH3","MYL1","MYL11","MYL2","MYO9A","MYOT","NALCN","NCF1","NDUFAF6","NEB","NEDD4L","NEPRO","NF1","NFATC2","NKX3-2","NLRP3","NOTCH2","NPAP1","NRAS","NSD1","NT5C2","OCRL","ORC1","ORC4","ORC6","P4HTM","PCDH19","PDGFRB","PEPD","PHEX","PI4KA","PIEZO2","PIGA","PIGY","PIK3R2","PITX1","PKDCC","PLOD1","PLOD2","PMP22","POLR3A","POLRMT","PRG4","PRKACA","PRKACB","PRKG2","PRMT7","PRR12","PSAT1","PSTPIP1","PTDSS1","PTEN","PTH1R","PTPN2","PTPN22","PUS3","PWAR1","PWRN1","RAB23","RAB33B","RAD21","RBM8A","RECQL4","RETREG1","RFC2","RMRP","RNU4ATAC","RPGRIP1L","RPL10","RPL13","RREB1","RSPRY1","RTTN","RUNX2","RYR1","SATB2","SCARF2","SCN1A","SCN1B","SCN2A","SCN4A","SCN9A","SCYL2","SDHA","SDHAF1","SDHB","SDHD","SEC24C","SELENON","SERPINH1","SF3B2","SFRP4","SH3PXD2B","SHH","SHOX","SIK3","SKI","SLC10A7","SLC18A3","SLC25A46","SLC26A2","SLC35A3","SLC35B2","SLC39A8","SLC6A9","SLCO2A1","SMAD2","SMAD3","SNAP25","SNORD115-1","SNORD116-1","SOX9","SPART","SPTBN1","SRD5A3","STAT4","STX1A","STX1B","STXBP1","SVIL","SYNE1","SYT2","TBC1D7","TBL2","TBX1","TBX4","TCTN3","TELO2","TFE3","TGDS","TGFB1","TMEM270","TMTC3","TNFRSF1A","TNFSF11","TONSL","TOR1A","TPM2","TPM3","TRAPPC2","TRIM2","TRIP11","TRPS1","TRPV4","TTC26","TUBB3","UBA1","UBR7","UFC1","UFD1","UFSP2","UGP2","UNC80","USP9X","VCP","VDR","VPS13B","VPS37D","WASF1","WDR62","WNK1","WNT7A","XYLT1","YY1","ZBTB20","ZEB2","ZNF699","ZPR1","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NEUROPATHIC_ARTHROPATHY":{"collection":"C5:HPO","systematicName":"M43277","pmid":"","exactSource":"HP:0002821","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002821","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEUROPATHIC_ARTHROPATHY","geneSymbols":["ATL1","ATL3","ELP1","NTRK1","SPTLC1","SPTLC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_FEMUR_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M36027","pmid":"","exactSource":"HP:0002823","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002823","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_FEMUR_MORPHOLOGY","geneSymbols":["ABCC9","ACAN","ACTB","ACVR1","ADAMTS2","ADAMTSL2","AFF3","AGPS","AIFM1","ALG12","AMMECR1","ANKH","ARCN1","ARID1B","ARSL","ATP6V0A2","ATP7A","ATRX","B3GALT6","B4GALT7","BCR","BGN","BHLHA9","BICD2","BMP1","BMPR1B","BRCA1","BRCA2","BRF1","BRIP1","CAMK2A","CANT1","CBFB","CCDC47","CCN6","CDC6","CFAP410","CHD4","CHD7","CHEK2","CHST3","CLCN5","CLCN7","COG1","COG4","COG8","COL10A1","COL11A1","COL11A2","COL1A1","COL1A2","COL27A1","COL2A1","COL9A1","COL9A2","COL9A3","COMP","CPLANE1","CREBBP","CRKL","CRTAP","CSF1R","CSGALNACT1","CSPP1","CTC1","CYP27A1","CYP27B1","CYP2R1","DDRGK1","DLK1","DMP1","DNAJC21","DUOX2","DUOXA2","DVL1","DVL3","DYM","DYNC2H1","DYNC2I1","EED","EFL1","EIF2AK3","ENPP1","EP300","ERCC4","ERCC6","EXOC6B","EXT1","EXT2","EXTL3","EZH2","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FBN1","FGFR2","FGFR3","FIBP","FKBP10","FLNA","FLNB","FN1","FUCA1","FZD2","GALNS","GBA1","GDF5","GJA1","GJB2","GJB6","GLA","GLB1","GLI3","GNAS","GNPTAB","GNPTG","GORAB","GPC6","GTF2E2","HDAC4","HESX1","HNRNPH1","HNRNPK","HNRNPR","HS2ST1","HSPA9","HSPG2","IARS2","IDUA","IFIH1","IFNGR1","IFT140","IHH","INPP5K","IYD","KCNJ8","KDELR2","KIAA0586","KIF22","KIFBP","LAMA5","LBR","LEMD2","LEMD3","LHX3","LHX4","LIFR","LMNA","LMX1B","LRP5","LTBP3","LYSET","MAD2L2","MADD","MAN2B1","MAPK1","MATN3","MBTPS1","MEG3","MEGF8","MGAT2","MMP13","MMP9","MTHFS","MTX2","NANS","NEK8","NEK9","NEPRO","NFIX","NGLY1","NKX3-2","NRCAM","ORC1","ORC6","OTUD5","P3H1","PALB2","PAM16","PCNT","PCYT1A","PDE4D","PEX5","PHEX","PI4KA","PIK3C2A","PLEKHM1","PLOD2","PLOD3","POC1A","POLR1A","POLR3A","POP1","POR","POU1F1","PRG4","PRKG2","PROP1","PSAP","PTH1R","PUF60","RAB23","RAB33B","RAB3GAP2","RAD21","RAD51","RAD51C","RASA1","RB1","RBM8A","RET","RFWD3","RINT1","RMRP","RNU4ATAC","RPL13","RPS6KA3","RSPRY1","RTL1","RUNX2","SALL4","SBDS","SCARF2","SEMA3E","SERPINF1","SERPINH1","SETBP1","SGMS2","SHOX","SIL1","SKIC3","SLC10A7","SLC12A2","SLC26A2","SLC2A10","SLC31A1","SLC34A3","SLC35A2","SLC35B2","SLC39A13","SLC5A5","SLX4","SMARCAL1","SOX9","SRCAP","SRP54","STXBP1","SUCLG1","TAPT1","TBX15","TBX4","TBXAS1","TCIRG1","TENT5A","TG","TGDS","TGFB1","TGFB3","TINF2","TMEM38B","TMEM53","TMEM67","TNFRSF11A","TNFRSF11B","TONSL","TP53","TPO","TRAF3IP1","TRAPPC2","TREX1","TRIP11","TRPS1","TRPV4","TRPV6","TSHB","TSHR","UBE2T","UBE3C","UFC1","UFSP2","UNC45A","VDR","WNT5A","WNT7A","XRCC2","XYLT1","XYLT2","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CAUDAL_APPENDAGE":{"collection":"C5:HPO","systematicName":"M36028","pmid":"","exactSource":"HP:0002825","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002825","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CAUDAL_APPENDAGE","geneSymbols":["COLEC10","COLEC11","DCHS1","FAT4","MASP1","TRPV4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HIP_DISLOCATION":{"collection":"C5:HPO","systematicName":"M43278","pmid":"","exactSource":"HP:0002827","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002827","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HIP_DISLOCATION","geneSymbols":["AARS1","ABCC9","ACTA1","ADAMTS2","ADAMTSL2","AEBP1","AFF3","AGRN","AKT1","ALDH18A1","ALG9","APC","ARNT2","ATAD1","ATP6V0A2","ATP6V1A","ATP6V1E1","ATP7A","ATR","B3GALT6","B3GAT3","BICD2","BRCA1","BRCA2","BRD4","BRIP1","C12orf57","CCDC47","CCDC8","CD96","CDON","CEP85L","CFL2","CHAT","CHRM3","CHRNG","CHST3","CLCN3","CLTCL1","COL12A1","COL13A1","COL1A1","COL1A2","COL25A1","COL27A1","COL2A1","COL3A1","COL5A1","COL5A2","COL6A1","COL6A2","COL6A3","COLEC10","COLEC11","COX8A","CPLX1","CTBP1","CUL7","DHCR7","DHODH","DISP1","DLL1","DNAJC21","DPYSL5","DSTYK","DVL1","DVL3","EBP","ECEL1","EFEMP2","EIF2AK3","EIF4A3","ELN","ERCC1","ERCC4","ERGIC1","EXOC6B","EXOSC3","EYA1","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FBLN1","FBLN5","FGF8","FGFR1","FGFRL1","FHL1","FIG4","FKRP","FLI1","FLNA","FLNB","FOXH1","FUT8","FZD2","GAS1","GDF5","GEMIN4","GJA1","GLI2","GLI3","GLRA1","GLRB","GMPPB","GNPTAB","GORAB","GPC3","GPC4","GPHN","GSC","HACD1","HACE1","HDAC4","HDAC8","HK1","HNRNPH1","HOXA11","HPRT1","HSPG2","IARS2","IFIH1","IL6ST","INPP5K","IPO8","ITGA7","KANSL1","KAT6B","KDM6A","KIF22","KLHL41","KMT2D","LARGE1","LETM1","LMNA","LMOD3","LONP1","LRP4","LTBP1","LYSET","MACF1","MAD2L2","MAP3K20","MAP3K7","MASP1","MBTPS2","MCTP2","MKKS","MYH3","MYH8","MYL2","MYO9A","NAA10","NEB","NFIX","NGLY1","NIPBL","NKX3-2","NODAL","NSD2","NSDHL","OBSL1","OCRL","OSGEP","PAFAH1B1","PALB2","PIEZO2","PIGL","PLCH1","PLOD1","POLR3B","POMT1","POMT2","PORCN","PPP2R5D","PTCH1","PTEN","PTRH2","PUF60","PYCR1","PYCR2","RAD21","RAD51","RAD51C","RBM8A","RECQL4","RFWD3","RNU4ATAC","RUNX2","RYR1","RYR3","SCYL2","SEC31A","SELENON","SF3B4","SHH","SHROOM4","SIL1","SIX1","SIX3","SLC12A2","SLC18A3","SLC25A1","SLC2A10","SLC35A3","SLC5A7","SLC6A5","SLC6A9","SLX4","SMC1A","SMC3","SMO","SMOC1","SNAP25","SNRPB","SOX9","SPARC","STAG2","STIL","SYT2","TBCD","TBX15","TDGF1","TELO2","TFE3","TGIF1","THRA","TNNT3","TONSL","TOR1A","TPM2","TPM3","TRIM8","UBA2","UBE2T","UBE3B","USP9X","VAC14","VAMP1","WNT5A","WNT7A","XRCC2","XYLT1","YWHAE","ZC4H2","ZIC2","ZIC3","ZMPSTE24","ZNF469"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MULTIPLE_JOINT_CONTRACTURES":{"collection":"C5:HPO","systematicName":"M36030","pmid":"","exactSource":"HP:0002828","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002828","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MULTIPLE_JOINT_CONTRACTURES","geneSymbols":["AARS1","ADAR","ALG14","B3GALT6","BICD2","CARS1","CHRNG","COL12A1","COL6A1","COL6A2","COL6A3","DNA2","DOK7","ERCC2","ERCC3","EXOSC9","FKRP","FLNA","FLRT1","GMPPB","GPKOW","GTF2E2","GTF2H5","IDH1","IFIH1","KIF21A","KLC2","KY","LARGE1","LMNA","LSM11","MED12","MPLKIP","MUSK","MYBPC1","MYH7","MYOD1","MYOT","NDE1","NUP88","PIGS","PIP5K1C","PMM2","POMT1","POMT2","RAPSN","RBM28","RFC1","RNASEH2A","RNASEH2B","RNASEH2C","RNF113A","RNU7-1","RTTN","RYR1","SAMHD1","SELENON","SLC18A3","SLC1A4","SLC39A14","TARS1","TGM1","TOR1A","TREX1","TRIP4","TTN","TUBA1A","UBA1","VPS11","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ARTHRALGIA":{"collection":"C5:HPO","systematicName":"M36031","pmid":"","exactSource":"HP:0002829","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002829","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ARTHRALGIA","geneSymbols":["ABCC6","ABCG5","ABCG8","ADA2","AIP","ANKH","ANKRD55","ANTXR2","AP1S3","APC","APOB","ARSB","ASAH1","ASPN","ASXL1","ATP7B","BAZ1B","BCL11A","BCL7B","BMP6","BUD23","C1QB","C1R","C1S","C4A","CAV1","CBL","CCN2","CCN6","CCR1","CCR6","CD19","CD244","CD247","CD55","CD81","CHST11","CHST3","CIITA","CLCNKB","CLIP2","COL10A1","COL11A1","COL11A2","COL1A1","COL2A1","COL5A1","COL5A2","COL9A1","COMP","COPA","CR2","CTLA4","CTNNB1","DDB2","DDRGK1","DNAJC30","DSE","EIF4H","ELN","ENPP1","EPOR","ERAP1","ERCC2","ERCC3","ERCC4","ERCC5","F8","FAS","FKBP6","FTL","GLA","GNB2","GNPTG","GPR101","GTF2I","GTF2IRD1","GTF2IRD2","HBB","HBG1","HBG2","HFE","HGD","HLA-B","HLA-DPA1","HLA-DPB1","HLA-DQA1","HLA-DQB1","HLA-DRB1","HPGD","ICOS","IFNGR1","IGHG2","IGKC","IL10","IL12A","IL12A-AS1","IL12B","IL1RN","IL23R","IL2RA","IL2RB","IL36RN","IL6","IRAK1","IRF2BP2","IRF4","IRF5","JAK2","KIF7","KIT","KLF1","KLRC4","LACC1","LBR","LDLR","LDLRAP1","LEMD3","LIMK1","LMNA","LMNB2","LPIN2","MAFB","MATN3","MEFV","METTL27","MFN2","MIF","MLX","MLXIPL","MMP2","MPL","MS4A1","MSMO1","MVK","MYH3","NCF1","NFKB1","NFKB2","NFKBIL1","NLRC4","NLRP12","NLRP3","NOD2","NOTCH2","OTULIN","P4HA2","PCSK9","PHEX","PIGT","PKDCC","PLCG2","POMP","PRKCD","PRTN3","PSMB4","PSMB8","PSMB9","PSTPIP1","PTH1R","PTPN2","PTPN22","RFC2","RNU4ATAC","RUNX1","SAT1","SEPTIN9","SFRP4","SLC12A3","SLC22A4","SLC26A2","SLC40A1","SLCO2A1","SMAD2","SMPD1","SOST","SPP1","SRSF2","STAT4","STING1","STX1A","TBL2","TET2","TLR4","TLR7","TMEM270","TNFRSF11B","TNFRSF13B","TNFRSF13C","TNFRSF1A","TNFSF12","TNXB","TRAPPC2","TREM2","TREX1","TRPS1","TYROBP","UBA1","UBAC2","UFSP2","VCP","VPS37D","XPA","XPC"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CALCIFIC_STIPPLING":{"collection":"C5:HPO","systematicName":"M36032","pmid":"","exactSource":"HP:0002832","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002832","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CALCIFIC_STIPPLING","geneSymbols":["EBP","GNPAT","HSD17B4","PEX2","PEX5"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ASPIRATION":{"collection":"C5:HPO","systematicName":"M36033","pmid":"","exactSource":"HP:0002835","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002835","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ASPIRATION","geneSymbols":["ADGRG1","ADNP","ARV1","ATP1A2","ATP1A3","ATXN8OS","CACNA1A","CREBBP","DCX","DHX16","DOLK","DST","EP300","FBXO28","FOXG1","GLRA1","GM2A","GNB2","GPHN","GRB10","GRM7","HEXA","LAMA2","LRP12","MATR3","MID1","NAA10","PI4KA","SEC31A","SLC1A3","SRPX2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BLADDER_EXSTROPHY":{"collection":"C5:HPO","systematicName":"M47067","pmid":"","exactSource":"HP:0002836","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002836","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BLADDER_EXSTROPHY","geneSymbols":["CDH11","ISL1","KRAS","MED12","PAH","TP63","UPB1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RECURRENT_BRONCHITIS":{"collection":"C5:HPO","systematicName":"M36034","pmid":"","exactSource":"HP:0002837","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002837","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_BRONCHITIS","geneSymbols":["ATM","CD19","CD79A","CD79B","CD81","CR2","DNAAF1","DNAI1","DNAJB13","DPP9","EGFR","FCHO1","GAS8","GNPTAB","ICOS","IL10RB","IL17RA","IL2RG","IRF2BP2","MAGT1","MGP","MS4A1","NBN","NFKB1","NFKB2","PRKCD","RFX7","RPGR","SMARCA2","TAFAZZIN","TAP1","TAP2","TAPBP","TNFRSF13B","TNFRSF13C","TNFSF12","USP26"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_URINARY_BLADDER_SPHINCTER_DYSFUNCTION":{"collection":"C5:HPO","systematicName":"M36035","pmid":"","exactSource":"HP:0002839","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002839","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_URINARY_BLADDER_SPHINCTER_DYSFUNCTION","geneSymbols":["ABCD1","AP5Z1","ATL1","ATXN1","ATXN2","ATXN3","CLN3","COL7A1","FMR1","FXN","GBE1","GFAP","GJC2","HNRNPA1","HNRNPA2B1","HSPD1","KIF1A","KIF5A","MMP1","MPZ","NIPA1","PIK3R5","PMP22","REEP2","RTN2","SETX","SPAST","SPG11","SPG7","VCP","WASHC5","WWOX","ZFYVE26"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LYMPHADENITIS":{"collection":"C5:HPO","systematicName":"M36036","pmid":"","exactSource":"HP:0002840","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002840","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LYMPHADENITIS","geneSymbols":["CXCR4","CYBA","CYBB","CYBC1","IL12RB1","IRF8","MVK","MYD88","NCF1","NCF2","RAC2","RAG1","RAG2","RBCK1","STAT2","ZAP70"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_T_CELL_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M36038","pmid":"","exactSource":"HP:0002843","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002843","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_T_CELL_MORPHOLOGY","geneSymbols":["ACP5","ADA","AP3B1","ATM","ATP6AP2","BCL10","BCL11B","BLM","BLNK","BTK","BTNL2","CARD11","CARD9","CASP10","CASP8","CD19","CD247","CD3D","CD3E","CD3G","CD4","CD79A","CD79B","CD81","CD8A","CIITA","CR2","CTNNBL1","CTPS1","DCLRE1C","DEF6","DIAPH1","DNMT3B","DOCK2","DOCK8","EPG5","EXTL3","FAS","FASLG","FCHO1","FOXN1","FOXP3","GATA2","HLA-DPB1","HLA-DRB1","ICOS","IGLL1","IKBKB","IKBKG","IL21","IL2RA","IL2RB","IL2RG","IL7","IL7R","IRAK4","ITK","IVNS1ABP","JAK3","KNSTRN","LAT","LCK","LCP2","LEP","LEPR","LIG1","MAGT1","MCM10","MS4A1","MYC","MYD88","NBN","NCKAP1L","NFKBIA","NHEJ1","NSMCE3","OTULIN","PGM3","PIK3CD","PIK3CG","PIK3R1","PNP","POMP","PRKCD","PRKDC","PTPRC","RAC2","RAG1","RAG2","RASGRP1","RFX5","RFXANK","RFXAP","RHOH","RIPK1","RPA1","SASH3","SH2D1A","SMARCAL1","SP110","STAT1","STN1","SYK","TBX2","TCF3","TNFRSF13B","TNFRSF13C","TOM1","UNC119","WAS","WDR1","WIPF1","XIAP","ZAP70"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_B_CELL_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M36039","pmid":"","exactSource":"HP:0002846","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002846","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_B_CELL_MORPHOLOGY","geneSymbols":["ADA","ALG12","ARHGEF1","ATM","ATP11A","B2M","BACH2","BTK","CARD11","CARD9","CASP10","CD19","CD3D","CD3E","CD3G","CD79A","CD79B","CD81","CDCA7","CTNNBL1","CTPS1","DCLRE1B","DCLRE1C","DOCK8","ELF4","FAS","FASLG","FCHO1","FNIP1","GATA2","GFI1","HELLS","HYOU1","ICOS","IGHM","IGLL1","IKBKB","IKBKG","IKZF1","IKZF3","IL21","IL2RA","IL2RG","IL6R","IRAK4","IRF2BP2","IVNS1ABP","JAK3","KNSTRN","LCP2","LRBA","MCM10","MS4A1","MYD88","MYSM1","NBN","NCKAP1L","NFKB2","NFKBIA","NHEJ1","PIK3CD","PIK3R1","PLCG2","POMP","PRIM1","PRKCD","PRKDC","PTEN","PTPRC","RAC2","RAG1","RAG2","RASGRP1","REL","RIPK1","SASH3","SH2D1A","SLC39A7","SOCS1","SP110","SPI1","STAT1","SYK","TBX2","TCF3","TET2","TLR8","TNFRSF9","TOM1","TRNT1","UNC119","WDR1","XIAP","ZAP70","ZBTB24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DECREASED_SPECIFIC_ANTI_POLYSACCHARIDE_ANTIBODY_LEVEL":{"collection":"C5:HPO","systematicName":"M36040","pmid":"","exactSource":"HP:0002848","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002848","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_SPECIFIC_ANTI_POLYSACCHARIDE_ANTIBODY_LEVEL","geneSymbols":["CASP10","COG6","FAS","FASLG","IL2RA","MAGT1","PRKCD","RASGRP1","WAS"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABSENCE_OF_LYMPH_NODE_GERMINAL_CENTER":{"collection":"C5:HPO","systematicName":"M46079","pmid":"","exactSource":"HP:0002849","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002849","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENCE_OF_LYMPH_NODE_GERMINAL_CENTER","geneSymbols":["ADA","CD40","CD40LG","EPHB4","PTPRC","SP110"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DECREASED_CIRCULATING_TOTAL_IGM":{"collection":"C5:HPO","systematicName":"M36041","pmid":"","exactSource":"HP:0002850","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002850","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_CIRCULATING_TOTAL_IGM","geneSymbols":["ADA","ADA2","ALG12","ARHGEF1","ATP6AP1","BACH2","BLM","BLNK","BTK","CARD11","CASP10","CASP8","CD19","CD79B","CNBP","CR2","CTLA4","DOCK8","EXTL3","FAS","FASLG","FNIP1","ICOS","IGHG2","IGKC","IGLL1","IKBKG","IL2RG","IL6R","IL6ST","IRF2BP2","IVNS1ABP","JAK3","KNSTRN","LAMTOR2","LCK","LIG1","LRBA","MOGS","NAE1","NFKB2","NFKBIA","PIGT","PIK3CD","PIK3CG","PLCG2","POLE","PRIM1","PRKCD","PTPRC","RAC2","RAG1","RAG2","RASGRP1","RNF168","SASH3","SH3KBP1","SIK3","SPI1","STAT2","SYK","TCF3","TCN2","TNFRSF11A","TNFRSF13B","TNFRSF13C","TOM1","TYMS","WAS","ZBTB24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_GENU_VALGUM":{"collection":"C5:HPO","systematicName":"M36043","pmid":"","exactSource":"HP:0002857","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002857","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENU_VALGUM","geneSymbols":["ACAN","ACTA1","ADNP","ARSB","ARSK","ATP7A","ATRX","B3GALT6","B3GAT3","BAZ1B","BCL7B","BCOR","BPNT2","BRAF","BRF1","BUD23","CAMK2A","CBFB","CBS","CCN6","CENPT","CFL2","CHST3","CLCN7","CLIP2","COG5","COL10A1","COL11A1","COL1A2","COL2A1","COL9A1","COL9A2","COL9A3","COMP","CSGALNACT1","CTC1","CTNS","CYP19A1","DNAJC30","DYM","DYNC2LI1","EIF2AK3","EIF4H","ELN","ENPP1","EVC","EVC2","EXT1","EXT2","FBN1","FKBP6","FLNA","FN1","GALNS","GAN","GLB1","GLI1","GNPTG","GTF2I","GTF2IRD1","GTF2IRD2","GUSB","H3-3B","HBB","HEATR3","HERC2","HS2ST1","HS6ST1","HSPG2","IARS2","IDUA","IFIH1","IFT172","IFT57","IL6ST","IPO8","KAT6A","KIF22","KIF7","KLHL41","KRAS","LBR","LIFR","LIMK1","LMOD3","LONP1","MAGEL2","MAN2B1","MAP2K1","MAP2K2","MAPK8IP3","MATN3","MCTP2","MEGF8","METTL27","MKRN3","MLXIPL","MMP13","MPZ","MTX2","NCF1","NDUFAF6","NEB","NEPRO","NF1","NKX3-2","NOTCH2","NPAP1","NSD1","OCRL","ORC1","P4HTM","PEPD","PHEX","PMP22","PRKACA","PRKACB","PRKG2","PUS3","PWAR1","PWRN1","RAB23","RAB33B","RAD21","RFC2","RPGRIP1L","RSPRY1","RUNX2","SERPINH1","SF3B2","SFRP4","SHOX","SKI","SLC10A7","SLC26A2","SNORD115-1","SNORD116-1","SPART","SPTBN1","STX1A","TBC1D7","TBL2","TFE3","TGDS","TGFB1","TMEM270","TNFSF11","TONSL","TPM2","TRPS1","TRPV4","TUBB3","UGP2","VDR","VPS13B","VPS37D","ZBTB20","ZEB2","ZNF699","ZPR1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MENINGIOMA":{"collection":"C5:HPO","systematicName":"M36044","pmid":"","exactSource":"HP:0002858","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002858","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MENINGIOMA","geneSymbols":["AKT1","ARMC5","BAP1","CCM2","CDKN1A","CDKN1B","CDKN2B","CDKN2C","CHEK2","COQ6","CREBBP","EIF3F","EP300","GNAS","KLLN","KRIT1","LMNA","LZTR1","MBD4","MEN1","MN1","NF1","NF2","NRAS","NTHL1","PDCD10","PDGFB","PIK3CA","PTEN","SDHB","SDHC","SDHD","SEC23B","SMARCB1","SMARCE1","SMO","SUFU","TERT","TRAF7","USF3","WRN"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SQUAMOUS_CELL_CARCINOMA":{"collection":"C5:HPO","systematicName":"M36046","pmid":"","exactSource":"HP:0002860","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002860","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SQUAMOUS_CELL_CARCINOMA","geneSymbols":["AAGAB","AARS1","ANAPC1","ATR","BLM","BRD4","CARS1","CDKN2A","CIB1","COL14A1","COL17A1","COL7A1","CTSC","DDB2","DKC1","DOCK8","ERCC2","ERCC3","ERCC4","ERCC5","FDPS","FERMT1","GATA1","GJB2","GJB6","GTF2E2","GTF2H5","IL7","ING1","KRT14","KRT5","LAMA3","LAMB3","LAMC2","LMNA","MC1R","MMP1","MPLKIP","MVD","MVK","NAF1","NLRP1","NTHL1","NUTM1","OCA2","POLH","PSENEN","RECQL4","RNF113A","RSPO1","SASH1","SLC17A9","SLX4","SMARCAD1","STAT1","TARS1","TERC","TERT","TINF2","TMC6","TMC8","TNFRSF10B","TOM1","TYMS","TYR","UROS","WNT10A","WRN","XPA","XPC"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MELANOMA":{"collection":"C5:HPO","systematicName":"M36047","pmid":"","exactSource":"HP:0002861","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002861","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MELANOMA","geneSymbols":["AAGAB","ACD","AKT1","ANAPC1","BAP1","BARD1","BRAF","BRCA1","BRCA2","BRIP1","CDK4","CDKN2A","CDKN2B","CHEK2","COL14A1","COL17A1","COL7A1","CTSC","CXCR4","CYSLTR2","DDB2","ERCC2","ERCC3","ERCC4","ERCC5","ERCC6","GNA11","GNAQ","HRAS","KANSL1","KLLN","KRAS","MBD4","MBTPS2","MC1R","MDM2","MGMT","MITF","MMP1","MRE11","NBN","NRAS","OCA2","PALB2","PALLD","PERP","PIK3CA","POLH","POT1","PTEN","PTPN11","RABL3","RAD50","RAD51","RAD51C","RAD51D","RAF1","RECQL4","RNF43","SDHB","SDHC","SDHD","SEC23B","SF3B1","SLC6A17","SMAD4","STK11","TERF2IP","TERT","TP53","TRPV3","TYMS","TYR","USF3","WRN","XPA","XPC"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MYELODYSPLASIA":{"collection":"C5:HPO","systematicName":"M36048","pmid":"","exactSource":"HP:0002863","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002863","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MYELODYSPLASIA","geneSymbols":["ADA2","ADH5","ANAPC1","ASXL1","ATRX","BLM","BRAF","BRCA1","BRCA2","BRIP1","BUB1","BUB1B","BUB3","CALR","CDKN2A","CEP57","CHEK2","CLPB","CSF3R","DDX41","DKC1","DNAJC21","EFL1","ELANE","ERBB3","ERCC4","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","GATA1","GATA2","GFI1","GINS1","GNB1","H4C9","HAX1","HEATR3","HSCB","HSPA9","JAK2","KIT","LIG4","MAD2L2","MDM2","MPL","MYSM1","NAF1","NAGS","NBEAL2","NF1","PALB2","PTPN11","RAD51","RAD51C","RAF1","RECQL4","RFWD3","RPA1","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS14","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS7","RUNX1","SAMD9","SAMD9L","SBDS","SF3B1","SH2B3","SLX4","SMARCD2","SRP19","SRP54","SRP72","SRSF2","TCIRG1","TERC","TERT","TET2","THPO","TINF2","TP53","TRIP13","TSR2","UBA1","UBE2T","XRCC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPOPLASTIC_ILIAC_WING":{"collection":"C5:HPO","systematicName":"M36049","pmid":"","exactSource":"HP:0002866","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002866","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASTIC_ILIAC_WING","geneSymbols":["ARSB","CCBE1","COL2A1","CREBBP","CTSK","DLK1","DYM","EED","EP300","ERCC6","ERCC8","EVC","EVC2","EZH2","FN1","GATA1","HDAC6","IHH","LAMA5","LYSET","MEG3","NKX3-2","PCNT","RIPK4","RTL1","RUNX2","SMAD4","SOX9","TBX15","TRAPPC2","WNT7A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_ILIUM_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M36050","pmid":"","exactSource":"HP:0002867","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002867","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ILIUM_MORPHOLOGY","geneSymbols":["ACP5","AEBP1","AIFM1","AMER1","ARSB","ATP7A","B3GALT6","BGN","CCBE1","CCN6","CEP120","COG1","COL11A1","COL11A2","COL2A1","CREBBP","CTSK","DDR2","DLK1","DMP1","DYM","EED","EIF2AK3","ENPP1","EP300","ERCC6","ERCC8","EVC","EVC2","EXTL3","EZH2","FGFR3","FLNA","FLNB","FN1","FUZ","GALNS","GATA1","GLB1","GNPTAB","GNPTG","GPC3","GPC4","GPX4","GUSB","HDAC6","HLA-B","HSPG2","IDH1","IDUA","IFT81","IHH","INPPL1","KAT6B","LAMA5","LIFR","LMX1B","LONP1","LYSET","MAN2B1","MATN3","MEG3","MMP13","NANS","NEPRO","NKX3-2","PAM16","PCNT","PCYT1A","PEX5","PHEX","PIGN","PLCB3","PLEKHM1","POLR3A","POP1","PTH1R","RAB23","RIPK4","RMRP","RNU4ATAC","RPS19","RPS6KA3","RTL1","RUNX2","SEC23A","SEC24D","SLC26A2","SLC35D1","SMAD4","SOX9","TBX15","TMEM67","TNFRSF1A","TRAPPC2","TRIP11","TRPV4","TWIST2","VANGL1","VPS33A","WDR19","WNT7A","ZBTB20"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NARROW_ILIAC_WING":{"collection":"C5:HPO","systematicName":"M36051","pmid":"","exactSource":"HP:0002868","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002868","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NARROW_ILIAC_WING","geneSymbols":["COL2A1","CTSK","EIF2AK3","NANS","PEX5","RPS6KA3","SEC23A","SEC24D","SOX9","ZBTB20"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FLARED_ILIAC_WING":{"collection":"C5:HPO","systematicName":"M36052","pmid":"","exactSource":"HP:0002869","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002869","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FLARED_ILIAC_WING","geneSymbols":["AIFM1","ARSB","B3GALT6","BGN","CREBBP","DDR2","EP300","FLNA","GLB1","GNPTAB","GNPTG","GPC3","GPC4","GPX4","IDUA","IHH","MMP13","PHEX","RAB23","TRIP11","TRPV4","VPS33A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_OBSTRUCTIVE_SLEEP_APNEA":{"collection":"C5:HPO","systematicName":"M36053","pmid":"","exactSource":"HP:0002870","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002870","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OBSTRUCTIVE_SLEEP_APNEA","geneSymbols":["AGRN","AHDC1","ARCN1","ASXL1","ATN1","BICD2","BMP2","CA2","CACNA1C","CACNA2D1","CCDC47","CDC42BPB","CHAMP1","CHAT","COL13A1","CREBBP","CTSK","DDB1","DMD","DNA2","DPH5","EDN1","EP300","EXOC2","FBXO28","FGFR3","FXR1","GNAI3","GNPTAB","GRB10","GRIN1","GUSB","H4C5","HRAS","IDS","IDUA","LRPPRC","MAGEL2","MCM3AP","MOG","MYO9A","NACC1","NALCN","NDN","NFIX","NGLY1","NONO","NOTCH3","OCA2","PCGF2","PIGT","PLCB4","POGZ","PRKAR1B","PRR12","RAB11B","RECQL4","SATB2","SH3BP2","SIM1","SKI","SLC18A3","SLC25A1","SLC5A7","SNAP25","SNRPN","SYT2","TERT","TNNT1","TRPV4","UNC80","VAMP1","ZMYM2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CENTRAL_APNEA":{"collection":"C5:HPO","systematicName":"M36054","pmid":"","exactSource":"HP:0002871","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002871","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CENTRAL_APNEA","geneSymbols":["AHI1","ARSL","ATP1A3","BICD2","CDON","CEP290","CISD2","DISP1","DLL1","FGF8","FGFR1","FGFR3","FOXH1","GAS1","GLI2","INPP5E","MAGEL2","NDN","NODAL","OCA2","PLCH1","PSAP","PTCH1","RPGRIP1L","SHH","SIX3","SLC2A1","SMC1A","SNRPN","STAG2","STIL","SYT1","TBR1","TDGF1","TECPR2","TGIF1","TMEM216","TSEN54","TTC19","WFS1","ZIC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APNEIC_EPISODES_PRECIPITATED_BY_ILLNESS_FATIGUE_STRESS":{"collection":"C5:HPO","systematicName":"M36055","pmid":"","exactSource":"HP:0002872","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002872","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APNEIC_EPISODES_PRECIPITATED_BY_ILLNESS_FATIGUE_STRESS","geneSymbols":["AGRN","CHAT","CHRNE","COL13A1","MYO9A","PDHA1","SLC18A3","SLC25A1","SLC5A7","SNAP25","SYT2","VAMP1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_EXERTIONAL_DYSPNEA":{"collection":"C5:HPO","systematicName":"M36056","pmid":"","exactSource":"HP:0002875","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002875","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EXERTIONAL_DYSPNEA","geneSymbols":["ABCA3","ACADM","ACTA2","ACTC1","AGR2","AGRN","AK9","ATP11A","ATP13A3","BCOR","CHRNA1","CHRNB1","CHRND","CHRNE","CITED2","COA8","COL13A1","COLQ","CSF2RB","CYB5A","CYB5R3","DNA2","DOK7","DPP9","DSP","EIF2AK4","ELN","ENG","EPOR","FAM13A","FBN1","FIP1L1","FOXE3","GATA4","GATA6","GYG1","HEY2","IRF2BP2","JAK2","LAMB2","LMNA","LOX","LRP4","MAT2A","MFAP5","MT-TN","MT-TS1","MUC5B","MUSK","MYH11","MYH6","MYH7","MYL3","MYLK","NABP1","NEB","NKX2-5","NPM1","NUMA1","PARN","PIEZO2","PLEC","PML","POLG","POLG2","PRKAR1A","PRKG1","PYGM","RAPSN","RARA","RRM2B","RTEL1","SCN4A","SFTPA1","SFTPA2","SFTPC","SH2B3","SLC25A4","SLC34A2","SMAD2","SMAD3","SMAD4","STAT3","STAT5B","STN1","SURF1","TBL1XR1","TBX20","TERC","TERT","TGFB2","TGFB3","TGFBR1","TGFBR2","THSD4","TLL1","TNNC1","TRMT5","TWNK","VCL","ZBTB16","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_EPISODIC_TACHYPNEA":{"collection":"C5:HPO","systematicName":"M36057","pmid":"","exactSource":"HP:0002876","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002876","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EPISODIC_TACHYPNEA","geneSymbols":["ACADVL","AHI1","ARL13B","ARL3","ARMC9","B9D1","B9D2","CBY1","CC2D2A","CDKL5","CEP104","CEP120","CEP290","CEP41","CPLANE1","CSPP1","FAM149B1","FBP1","GABBR2","HYLS1","IFT74","INPP5E","KATNIP","KIAA0586","KIAA0753","KIF7","MECP2","MKS1","NTNG1","OFD1","PDE6D","PIBF1","RPGRIP1L","SMC1A","SUFU","TCTN1","TCTN2","TCTN3","TMEM216","TMEM218","TMEM237","TMEM67","TOGARAM1","TOPORS","UQCRC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NOCTURNAL_HYPOVENTILATION":{"collection":"C5:HPO","systematicName":"M36058","pmid":"","exactSource":"HP:0002877","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002877","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NOCTURNAL_HYPOVENTILATION","geneSymbols":["ACTA1","CFL2","COL12A1","COL6A1","COL6A2","COL6A3","DNAJB4","FKRP","HNRNPK","KLHL41","LMOD3","MYH7","NEB","PHOX2B","SELENON","SLC52A3","TPM2","TTN"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RESPIRATORY_FAILURE":{"collection":"C5:HPO","systematicName":"M36059","pmid":"","exactSource":"HP:0002878","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002878","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RESPIRATORY_FAILURE","geneSymbols":["ABCA3","ACTA1","ACVR1","AGRN","AGTPBP1","AHCY","AK9","ALG1","AMT","ANG","ANXA11","ASAH1","ASCC1","ATAD1","ATXN1","ATXN2","BCHE","BICD2","BLM","BOLA3","BSCL2","CCDC103","CCDC39","CCDC40","CCDC65","CCNF","CCNO","CDC45","CDC6","CDT1","CFAP221","CFAP298","CFAP300","CFAP410","CFAP74","CHCHD10","CHMP2B","CHRNA1","CHRNB1","CHRND","CHRNE","CLPB","CNTNAP1","COL12A1","COL13A1","COL6A1","COL6A2","COL6A3","COX7B","CPT2","CRYAB","CSPP1","CTSD","DAG1","DAO","DCTN1","DLK1","DMD","DNAAF1","DNAAF11","DNAAF2","DNAAF3","DNAAF4","DNAAF5","DNAAF6","DNAH1","DNAH11","DNAH5","DNAH9","DNAI1","DNAI2","DNAJB13","DNAJB4","DNAL1","DOK7","DRC1","DSP","DTYMK","DZIP1L","ECHS1","EPHA4","ERBB3","ERBB4","EXOSC3","EXOSC8","EXOSC9","FAM20C","FARSB","FGFR3","FHL1","FIG4","FKRP","FLNA","FOXJ1","FREM2","FUS","GAA","GALC","GAS2L2","GAS8","GATA2","GFRA1","GLE1","GLS","GLT8D1","GMNN","GMPPB","GOSR2","GTPBP3","HACD1","HADHA","HADHB","HCCS","HCK","HNRNPA1","HRAS","HTRA2","HYDIN","IBA57","IFIH1","IFNG","IFT81","IGHMBP2","INVS","ITGA7","JUP","KARS1","KLHL40","KLHL41","LAMA2","LAMA3","LAMB3","LAMC2","LARGE1","LBX1","LMOD3","LRP4","LRPPRC","LRRC56","LTBP3","LYRM7","MAP3K20","MATR3","MCIDAS","MCM4","MED11","MEG3","MEGF10","MGME1","MICOS13","MT-TN","MT-TS1","MTTP","MUSK","MYL1","MYL2","MYOT","NAXE","NBN","NDUFAF2","NDUFAF3","NDUFB11","NDUFB8","NDUFS4","NEB","NEFH","NEK1","NEK10","NFS1","NFU1","NHLRC2","NKX2-1","NME5","NME8","NPC2","NUP188","NUTM2B-AS1","ODAD1","ODAD2","ODAD3","ODAD4","OFD1","OPTN","ORC1","ORC4","ORC6","OSTM1","PDHA1","PEX6","PFN1","PIGA","PKHD1","PLP1","POMT1","POMT2","PON1","PON2","PON3","PPARGC1A","PRPH","PSAP","PTCD3","RAPSN","RMND1","RNF168","RNU4ATAC","RPGR","RSPH1","RSPH3","RSPH4A","RSPH9","RTL1","RYR1","SARS2","SCN4A","SELENON","SFTPB","SFTPC","SLC25A26","SLC25A46","SLC2A10","SLC34A2","SLC6A9","SMAD4","SMN1","SOD1","SON","SPAG1","SPEF2","SQSTM1","STK36","SUCLG1","SURF1","TAF15","TARDBP","TBCD","TBK1","TFG","TK2","TMEM70","TPI1","TPM2","TPM3","TREM2","TRPV4","TSC1","TSC2","TSEN54","TSFM","TTC12","TTN","TUFM","UBE3B","UBQLN2","UNC13A","VAPB","VCP","VRK1","ZMYND10"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SUDDEN_EPISODIC_APNEA":{"collection":"C5:HPO","systematicName":"M36061","pmid":"","exactSource":"HP:0002882","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002882","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUDDEN_EPISODIC_APNEA","geneSymbols":["AGRN","CDKL5","CHAT","CHRNE","COL13A1","FARS2","GABBR2","MECP2","MYO9A","NTNG1","SLC18A3","SLC25A1","SLC25A20","SLC39A8","SLC5A7","SMC1A","SNAP25","SYT2","VAMP1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPERVENTILATION":{"collection":"C5:HPO","systematicName":"M36062","pmid":"","exactSource":"HP:0002883","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002883","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERVENTILATION","geneSymbols":["ARL13B","BTD","CABP4","CACNA1H","CAMK2B","CASK","CDKL5","CHRNA2","CHRNA4","CHRNB2","CIZ1","CNTNAP2","CPLANE1","CRH","DEPDC5","FBP1","GABBR2","GABRA1","GABRB3","GABRG2","HLCS","JRK","KCNT1","MECP2","MT-ATP6","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND5","MT-ND6","MT-TK","MT-TL1","MT-TV","MT-TW","NRXN1","SLC2A1","SYT1","TCF4","TLK2","UQCRFS1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HEPATOBLASTOMA":{"collection":"C5:HPO","systematicName":"M36063","pmid":"","exactSource":"HP:0002884","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002884","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEPATOBLASTOMA","geneSymbols":["APC","ARID1A","ARID1B","ARID2","CDKN1C","DLK1","DPF2","DZIP1L","GPC3","GPC4","IGF2","KCNQ1","KCNQ1OT1","MEG3","PKHD1","RTL1","SETBP1","SKIC2","SKIC3","SLC37A4","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SOX11","SOX4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MEDULLOBLASTOMA":{"collection":"C5:HPO","systematicName":"M36064","pmid":"","exactSource":"HP:0002885","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002885","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MEDULLOBLASTOMA","geneSymbols":["APC","ASXL1","BRCA2","CDKN2A","CHEK2","CTNNB1","DICER1","ELP1","GPR161","KEAP1","MDM2","MLH1","NBN","PALB2","PTCH1","PTCH2","SMARCB1","SUFU","TP53"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_EPENDYMOMA":{"collection":"C5:HPO","systematicName":"M36065","pmid":"","exactSource":"HP:0002888","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002888","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EPENDYMOMA","geneSymbols":["APC","CDKN1A","CDKN1B","CDKN2A","CDKN2B","CDKN2C","CHEK2","ERBB2","IDH1","IFNG","MDM2","MEN1","MLH1","NF2","RELA","SETBP1","TP53","TSC1","TSC2","ZFTA"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_THYROID_CARCINOMA":{"collection":"C5:HPO","systematicName":"M36066","pmid":"","exactSource":"HP:0002890","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002890","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THYROID_CARCINOMA","geneSymbols":["AKT1","APC","ARID1A","ARID1B","ARID2","BMPR1A","CASP10","CDC73","CDKN1A","CDKN1B","CDKN2A","CDKN2B","CDKN2C","CHEK2","DICER1","DPF2","FAS","FASLG","FLCN","FOXE1","FOXI1","GREM1","HABP2","HEPACAM","HRAS","JAG1","KCNJ10","KEAP1","KLLN","MDM2","MEN1","MINPP1","NKX2-1","NRAS","PDE11A","PIK3CA","PRKAR1A","PRKCD","PTEN","RASGRP1","RET","SDHB","SDHC","SDHD","SEC23B","SLC26A4","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SOX11","SOX4","SRGAP1","TG","TP53","USF3","WRN"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PITUITARY_ADENOMA":{"collection":"C5:HPO","systematicName":"M36067","pmid":"","exactSource":"HP:0002893","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002893","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PITUITARY_ADENOMA","geneSymbols":["AIP","ALG5","ALG9","APC","ARMC5","ATRX","BICC1","BMPR1A","BRAF","CDH23","CDKN1A","CDKN1B","CDKN2B","CDKN2C","DNAJB11","EPCAM","FAN1","GANAB","GNAS","GPR101","IDH1","IDH2","IFNG","IFT140","KRAS","MEN1","MLH1","MLH3","MSH2","MSH6","NR3C1","PDE11A","PIK3CA","PKD1","PKD2","PMS1","PMS2","PRKAR1A","RPS20","SEMA4A","TGFBR2","TP53","TSC1","TSC2","USP48","USP8","YY1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NEOPLASM_OF_THE_PANCREAS":{"collection":"C5:HPO","systematicName":"M36068","pmid":"","exactSource":"HP:0002894","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002894","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_PANCREAS","geneSymbols":["AAGAB","ACD","ACVR1B","APC","BAP1","BARD1","BMPR1A","BRCA1","BRCA2","BRD4","BRIP1","CCND1","CDC73","CDK4","CDKN1A","CDKN1B","CDKN2A","CDKN2B","CDKN2C","CHEK2","CLCNKB","COL14A1","CTC1","CTRC","DKC1","EPCAM","EWSR1","FAN1","FLI1","GCGR","KCNJ11","KRAS","MAFA","MC1R","MDM2","MEN1","MGMT","MITF","MLH1","MLH3","MRE11","MSH2","MSH6","NBN","NHP2","NOP10","NOTCH3","NPM1","NTHL1","NUTM1","PALB2","PALLD","PARN","PDE11A","PDGFRB","PIK3CA","PMS1","PMS2","POT1","PRKAR1A","PTEN","RABL3","RAD50","RAD51","RAD51C","RAD51D","RNF43","RPS20","RTEL1","SEMA4A","SLC12A3","SMAD4","SPINK1","STK11","TERC","TERF2IP","TERT","TGFBR2","TINF2","TP53","TYMS","USB1","VHL","WRAP53","WT1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PAPILLARY_THYROID_CARCINOMA":{"collection":"C5:HPO","systematicName":"M36069","pmid":"","exactSource":"HP:0002895","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002895","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PAPILLARY_THYROID_CARCINOMA","geneSymbols":["APC","ARID1A","ARID1B","ARID2","DICER1","DPF2","FOXE1","HABP2","HRAS","JAG1","MINPP1","NKX2-1","NRAS","PDE11A","PRKAR1A","SEC23B","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SOX11","SOX4","SRGAP1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NEOPLASM_OF_THE_LIVER":{"collection":"C5:HPO","systematicName":"M36070","pmid":"","exactSource":"HP:0002896","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002896","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_LIVER","geneSymbols":["ABCB11","ABCB4","ABCC8","AHCY","APC","APPL1","ARID1A","ARID1B","ARID2","ATP7B","AXIN1","BLK","BMP2","BMP6","BMPR1A","BRCA1","BRCA2","BTK","CASP10","CASP8","CC2D2A","CCND1","CDKN1C","CDKN2A","CEL","CPOX","CREBBP","CTNNB1","DIS3L2","DLK1","DPF2","DZIP1L","EP300","EPCAM","F5","FAH","FAN1","FAS","FASLG","G6PC1","GCK","GIMAP5","GNAS","GPC3","GPC4","GPR35","H19","HBB","HFE","HMBS","HNF1A","HNF4A","IGF2","IGF2R","IL12A","IL12RB1","INPP5E","INS","IRF5","JAG1","JAK2","KCNJ11","KCNQ1","KCNQ1OT1","KLF11","KRAS","MEG3","MET","MLH1","MLH3","MMEL1","MPV17","MSH2","MSH6","MST1","NAB2","NEUROD1","PALB2","PALLD","PAX4","PDE11A","PDGFRL","PDX1","PHKA2","PHKB","PHKG2","PIK3CA","PKHD1","PMS1","PMS2","POU2AF1","POU6F2","PPOX","PRKAR1A","PRKCD","PYGL","RABL3","RASGRP1","RELA","REST","RPGRIP1L","RPS20","RTL1","SEMA4A","SEMA4D","SERPINA1","SETBP1","SKIC2","SKIC3","SLC25A13","SLC2A2","SLC37A4","SMAD4","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SMPD1","SOX11","SOX4","SPIB","SPRTN","STAT6","TCF4","TGFBR2","TJP2","TMEM67","TNFSF15","TNPO3","TP53","TRIM28","TRIP13","TULP3","UROD","VHL","WT1","ZFTA"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PARATHYROID_ADENOMA":{"collection":"C5:HPO","systematicName":"M41267","pmid":"","exactSource":"HP:0002897","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002897","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PARATHYROID_ADENOMA","geneSymbols":["CASR","CDC73","CDKN1B","CLCNKB","FLCN","GCM2","IDH1","IDH2","IFNG","MEN1","NF1","RET","SLC12A3","TSC1","TSC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_EMBRYONAL_NEOPLASM":{"collection":"C5:HPO","systematicName":"M36071","pmid":"","exactSource":"HP:0002898","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002898","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EMBRYONAL_NEOPLASM","geneSymbols":["ALX4","APC","APC2","ARID1A","ARID1B","ARID2","ASXL1","BCL10","BLM","BMPER","BRCA2","BUB1","BUB1B","BUB3","C1S","CDC73","CDKN1C","CEP57","CHEK2","DHX37","DICER1","DIS3L2","DLK1","DMRT3","DPF2","DZIP1L","EXT2","FGFR3","FIBP","GATA4","GPC3","GPC4","H19","HDAC4","HRAS","IGF2","KCNQ1","KCNQ1OT1","KIT","MAD1L1","MAP3K1","MEG3","MNX1","MSH3","NR0B1","NR5A1","NSD1","PALB2","PAX6","PDE11A","PHF21A","PIK3CA","PKHD1","POU6F2","PRKAR1A","PTCH1","RB1","REST","RTL1","SETBP1","SETD2","SKIC2","SKIC3","SLC22A18","SLC37A4","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SOX11","SOX4","SOX9","SPRED1","SRY","STK11","TP53","TRIM28","TRIM37","TRIP13","VAMP7","WT1","WWOX","ZFPM2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPOKALEMIA":{"collection":"C5:HPO","systematicName":"M36072","pmid":"","exactSource":"HP:0002900","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002900","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOKALEMIA","geneSymbols":["AIP","AKAP9","ANK2","ATP1A1","ATP6V0A4","BMPR1A","BSND","CACNA1C","CACNA1D","CACNA1S","CALM1","CALM2","CALM3","CASR","CAV3","CDH23","CDKN2A","CLCN2","CLCNKA","CLCNKB","CLDN10","COL3A1","CTNNB1","CTNS","CYP11B1","CYP11B2","CYP17A1","DEF6","EHHADH","FXYD2","GABRA3","GATM","GEMIN4","HSD11B2","INSR","KCNE1","KCNE2","KCNE3","KCNH2","KCNJ1","KCNJ10","KCNJ18","KCNJ2","KCNJ5","KCNQ1","MAGED2","NDUFAF6","NOS1AP","NR3C1","NUP214","OCRL","PKD2","PRKAR1A","RRAGD","SCN10A","SCN4A","SCN4B","SCN5A","SCNN1A","SCNN1B","SCNN1G","SERPINA6","SLC12A1","SLC12A3","SLC26A3","SLC2A2","SLC34A1","SLC4A1","SLC4A4","SMAD4","SNTA1","TBX5","TERT","TP53","TRDN","UNC45A","USP8","ZNRF3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPOCALCEMIA":{"collection":"C5:HPO","systematicName":"M36073","pmid":"","exactSource":"HP:0002901","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002901","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOCALCEMIA","geneSymbols":["ACADVL","ADAMTS3","ALG12","AP1S3","ARVCF","BTK","CA2","CACNA1C","CAMKMT","CASR","CAV1","CCBE1","CHD7","CLCN7","CLCNKB","COMT","CSF1R","CTNS","CYP27B1","CYP2R1","CYP3A4","DGCR2","DGCR6","DGCR8","DMP1","ENPP1","ESS2","FAM111A","FARSB","FAT4","FGF23","FOCAD","FOXP3","GATA3","GCM2","GEMIN4","GNA11","GNAS","GNAS-AS1","GNB2","GP1BB","HADHA","HADHB","HIRA","HLA-DQA1","HLA-DQB1","IFT122","IL36RN","JMJD1C","LPIN1","MT-CO1","MT-CO3","OBSCN","ORAI1","OSTM1","PIK3C2A","PLEKHM1","PLVAP","PPM1B","PREPL","PTH","RFX7","RMRP","RRAGD","RREB1","RYR1","SEC24C","SLC12A3","SLC3A1","SLC4A1","SNX10","STX16","TBCE","TBX1","TCIRG1","TNFRSF11A","TNFSF11","TRPM6","UBR1","UFD1","USP53","VDR"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPERPHOSPHATEMIA":{"collection":"C5:HPO","systematicName":"M36075","pmid":"","exactSource":"HP:0002905","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002905","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERPHOSPHATEMIA","geneSymbols":["CACNA1S","CASR","FAM111A","GALNT3","GCM2","GNA11","GNAS","GNAS-AS1","KL","LPIN1","MT-CO1","MT-CO3","OBSCN","PRKAR1A","PTH","RYR1","STX16","TBCE","TNFRSF11B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MICROSCOPIC_HEMATURIA":{"collection":"C5:HPO","systematicName":"M36076","pmid":"","exactSource":"HP:0002907","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002907","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MICROSCOPIC_HEMATURIA","geneSymbols":["ACSL4","ADAMTS13","AMMECR1","CFHR5","CLCN5","COL4A3","COL4A5","CTNS","CUBN","F2","FN1","INF2","KCNE5","LMNB2","LMX1B","LPIN2","NOS1AP","NUP85","PAX2","PBX1","SLC37A4","SMARCAL1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CONJUGATED_HYPERBILIRUBINEMIA":{"collection":"C5:HPO","systematicName":"M36077","pmid":"","exactSource":"HP:0002908","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002908","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONJUGATED_HYPERBILIRUBINEMIA","geneSymbols":["ABCB11","ABCC2","AKR1D1","ATP8B1","BAAT","GLRX5","HSD3B7","IARS1","IL12A","IL12RB1","IRF5","KIF12","MMEL1","MYO5B","NR1H4","PEX14","PEX2","PKHD1","POLG2","POU2AF1","ROBO1","SLC17A5","SLC25A13","SLC2A1","SLC51A","SLCO1B1","SLCO1B3","SPIB","TFAM","TNFSF15","TNPO3","TTC26","UBR1","VIPAS39","VPS33B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_GENERALIZED_AMINOACIDURIA":{"collection":"C5:HPO","systematicName":"M36078","pmid":"","exactSource":"HP:0002909","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002909","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENERALIZED_AMINOACIDURIA","geneSymbols":["CTNS","CYP27B1","CYP2R1","DGUOK","EHHADH","ETFA","ETFB","ETFDH","FAH","GATM","NDUFAF6","NGLY1","SLC2A2","SLC34A1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ELEVATED_HEPATIC_TRANSAMINASE":{"collection":"C5:HPO","systematicName":"M36079","pmid":"","exactSource":"HP:0002910","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002910","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELEVATED_HEPATIC_TRANSAMINASE","geneSymbols":["ABCB11","ABCB4","ABCD1","ABCD3","ABHD5","ACAD9","ACADM","ACADVL","ACOX1","ACOX2","ACSF3","ACSL5","ADA2","ADAR","ADK","AGL","AGPAT2","AHCY","AIFM1","AKR1D1","ALAS2","ALDOA","ALDOB","ALG11","ALG12","ALG6","ALG8","ALMS1","AMACR","AP1B1","AP1S3","APOB","APOE","ASAH1","ASL","ATM","ATP6AP1","ATP6AP2","ATP7B","ATP8B1","ATRX","B4GALT1","BAAT","BCAP31","BCAT2","BCS1L","BICRA","BMP2","BRCA1","BRCA2","BSCL2","C1QBP","CALR","CAV3","CAVIN1","CBS","CC2D2A","CCDC115","CD19","CD46","CD81","CDKN2A","CEACAM3","CEACAM6","CEP164","CFAP418","CFH","CFI","CFTR","CLCA4","CLPB","CNOT1","COG2","COG4","COG5","COG6","COG7","COG8","CORIN","COX16","COX5A","CPT1A","CPT2","CR2","CSPP1","CYC1","CYP7B1","DAXX","DCDC2","DCTN4","DDOST","DEF6","DGUOK","DHDDS","DLD","DMD","DNAJC19","DNAJC21","DOCK2","DOLK","DPAGT1","DPM1","DPM2","DPM3","EARS2","EDNRA","EFL1","EIF2AK3","ERCC4","ERCC6","ERCC8","F5","FADD","FAH","FAN1","FARSA","FARSB","FBP1","FBXL4","FHL1","FLT1","FOCAD","FOXP3","G6PC1","GAA","GALT","GCLC","GDF2","GGCX","GIMAP5","GLRX5","GNE","GNMT","GPD1","GPR35","GSTM3","GYS2","HACD1","HADH","HADHA","HADHB","HAMP","HELLPAR","HFE","HJV","HLA-B","HLA-DQA1","HLA-DQB1","HMGCL","HMGCS2","HMOX1","HNF1B","HNF4A","HPD","HSD17B4","HSD3B7","IARS1","ICOS","IER3IP1","IFIH1","IFT172","IKZF1","IL18BP","IL36RN","INPP5E","IRF2BP2","JAG1","JAK2","KCNN4","KIAA0586","KIF12","KIF23","KRAS","LARGE1","LARS1","LBR","LDHA","LHX1","LIG3","LIPA","LIPT1","LPIN1","LSM11","LYRM4","LYST","MARS1","MED12","MICOS13","MICU1","MIF","MLIP","MOGS","MPV17","MRPL3","MRPL44","MRPS16","MRPS2","MRPS28","MS4A1","MST1","MT-CO1","MT-CO3","MTM1","MTTP","MTX2","MVK","MYH9","MYO5B","NBAS","NFKB1","NFKB2","NFS1","NGLY1","NOS3","NR1H4","NSMCE2","OBSCN","OCLN","OCRL","OFD1","OTC","OTUD5","PALB2","PALLD","PCK1","PEPD","PEX13","PEX14","PEX16","PEX19","PEX2","PGM1","PHKA2","PHKB","PHKG2","PIGL","PKHD1","PMM2","PNPLA2","POLD1","POLG","POLG2","PPOX","PRF1","PRIM1","PRKCD","PSMB4","PSMB8","PSMB9","PYGL","RABL3","RACGAP1","RAG1","RAG2","RBCK1","RINT1","RNASEH2A","RNASEH2B","RNASEH2C","RNF220","RNU7-1","RPGRIP1L","RRM2B","SAMHD1","SAR1B","SBDS","SC5D","SCO1","SDHD","SEMA4D","SEMA7A","SERPINA1","SH2B1","SLC11A1","SLC22A5","SLC25A13","SLC25A15","SLC25A20","SLC25A4","SLC26A9","SLC2A2","SLC30A10","SLC35A2","SLC37A4","SLC51A","SLC51B","SLC6A14","SLC7A7","SLC9A3","SMAD4","SMPD1","SP110","SPTBN1","SRD5A3","SRP54","STAT2","STEAP3","STOX1","STX11","STX1A","STXBP2","SUCLG1","TANGO2","TCF4","TFAM","TFR2","TGFB1","TKFC","TMEM165","TMEM199","TMEM67","TNFRSF13B","TNFRSF13C","TNFSF12","TP53","TRAPPC11","TREX1","TRMT10C","TRMU","TTC26","TULP3","TWNK","TYMP","UBR1","UGT1A1","UNC13D","UQCRB","UQCRC2","USP18","USP53","VIPAS39","VPS13A","VPS33B","VPS50","WDR35","WRN","XK","YARS2","ZNFX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_METHYLMALONIC_ACIDEMIA":{"collection":"C5:HPO","systematicName":"M36080","pmid":"","exactSource":"HP:0002912","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002912","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_METHYLMALONIC_ACIDEMIA","geneSymbols":["ABCD4","ACSF3","ALDH6A1","CD320","HCFC1","LMBRD1","MMAA","MMAB","MMACHC","MMADHC","MMUT","MTR","MTRR","PRDX1","SUCLA2","SUCLG1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MYOGLOBINURIA":{"collection":"C5:HPO","systematicName":"M36081","pmid":"","exactSource":"HP:0002913","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002913","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MYOGLOBINURIA","geneSymbols":["ACADVL","ALDOA","ANO5","CACNA1S","COQ2","CPT2","CRPPA","DMD","FDX2","FKRP","HADH","HADHA","HADHB","ISCU","LDHA","LPIN1","MLIP","MT-CO1","MT-CO3","OBSCN","PFKM","PGAM2","PGK1","PHKA1","PHKA2","PHKB","PHKG2","PYGM","RYR1","SGCB","TANGO2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPERCHLORIDURIA":{"collection":"C5:HPO","systematicName":"M36082","pmid":"","exactSource":"HP:0002914","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002914","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERCHLORIDURIA","geneSymbols":["BSND","CLCNKA","CLCNKB","KCNJ1","SLC12A1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_CHROMOSOME_SEGREGATION":{"collection":"C5:HPO","systematicName":"M36083","pmid":"","exactSource":"HP:0002916","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002916","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_CHROMOSOME_SEGREGATION","geneSymbols":["BUB1B","CDAN1","ESCO2","GJA1","LBR","MECP2","NKX2-5","PMFBP1","RAI1","SEC23B","SHH","SUN5","TRIP13","TSC1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPERMAGNESEMIA":{"collection":"C5:HPO","systematicName":"M36084","pmid":"","exactSource":"HP:0002918","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002918","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERMAGNESEMIA","geneSymbols":["ALDOB","AP2S1","CASR","CLCNKB","CLDN10","GNA11","SLC12A3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_KETONURIA":{"collection":"C5:HPO","systematicName":"M36085","pmid":"","exactSource":"HP:0002919","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002919","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_KETONURIA","geneSymbols":["ABCC8","ACAT1","CA5A","COX14","COX16","CPT1A","CYC1","FDX2","GCDH","GCK","GYS2","HMGCL","INS","KCNJ11","LETM1","LRPPRC","MCCC1","MCCC2","MCEE","MMAA","MMAB","MMACHC","OXCT1","PCK1","PDX1","SDHD","SLC16A1","SLC25A13","SLC2A2","STAT3","SUGCT","TANGO2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DECREASED_CIRCULATING_ACTH_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M36086","pmid":"","exactSource":"HP:0002920","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002920","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_CIRCULATING_ACTH_CONCENTRATION","geneSymbols":["AIP","AKT1","ARMC5","BAP1","CDH23","FOXA2","GLI2","GNAS","HESX1","LHX3","LHX4","MEN1","NF2","NFKB2","OTX2","PDE11A","PDGFB","PIK3CA","POU1F1","PRKAR1A","PROP1","ROBO1","SMARCB1","SMARCE1","SMO","SOX3","SUFU","TERT","TRAF7"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CEREBROSPINAL_FLUID_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M36087","pmid":"","exactSource":"HP:0002921","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002921","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CEREBROSPINAL_FLUID_MORPHOLOGY","geneSymbols":["AASS","ABHD5","ADAR","ADK","AHI1","AIFM1","AKT1","AKT3","ALDH4A1","ALDH5A1","ALDH7A1","ALG13","AMER1","AMT","AP1S2","ARHGAP31","ARL13B","ARL3","ARMC9","ARSA","ARSB","ARVCF","ASL","ASPA","ATP1A2","ATP5PO","ATPAF2","B3GALNT2","B3GALT6","B3GAT3","B3GLCT","B4GALT1","B4GAT1","B9D1","B9D2","BAP1","BCAT2","BICD2","BICRA","BLTP1","BOLA3","BRAF","BRCA1","BRCA2","BRIP1","BTNL2","BUB1B","CACNA1A","CBY1","CC2D2A","CCDC103","CCDC22","CCDC39","CCDC40","CCDC65","CCDC88C","CCL2","CCND2","CCNO","CD59","CDC40","CDC42BPB","CDCA7","CDON","CEBPE","CENPF","CEP104","CEP120","CEP290","CEP41","CEP83","CFAP221","CFAP298","CFAP300","CFAP43","CFAP74","CHST3","CILK1","CLCN3","CLCN7","CLIC2","CLPB","COA8","COG6","COL18A1","COL4A1","COMT","COPB2","COQ8A","COX10","COX11","COX14","COX20","COX4I1","COX6B1","COX7B","COX8A","CPLANE1","CPLX1","CPT1C","CPT2","CRB2","CRPPA","CRTAP","CSF1R","CSPP1","CTBP1","CTNNA2","CTNNB1","CYP26C1","DAG1","DARS2","DCC","DDC","DENND5A","DHCR24","DHCR7","DHFR","DISP1","DLAT","DLD","DLL1","DLL4","DNAAF1","DNAAF11","DNAAF2","DNAAF3","DNAAF4","DNAAF5","DNAAF6","DNAH1","DNAH11","DNAH5","DNAH9","DNAI1","DNAI2","DNAJB13","DNAL1","DNM1L","DNMT1","DNMT3B","DOCK6","DPH1","DPH2","DPYSL5","DRC1","EBP","ECHS1","EGR2","EML1","EOGT","EPHB4","ERCC2","ERCC3","ERCC4","ERCC5","ERCC6","ERCC8","ERF","ESCO2","EXOSC2","FAM111A","FAM20C","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FARS2","FBN1","FGF8","FGFR1","FGFR2","FGFR3","FGFRL1","FIG4","FKRP","FKTN","FLNA","FLVCR2","FOXH1","FOXJ1","FOXRED1","FRAS1","FTL","FTO","FUZ","GALC","GAS1","GAS2L2","GAS8","GBA1","GBE1","GCDH","GCH1","GFAP","GFM1","GFM2","GLI2","GLI3","GLUL","GLYCTK","GMPPB","GNAQ","GP1BB","GPC3","GPC4","GPSM2","GRIK2","GRIP1","GUSB","H4C9","HBA1","HBA2","HCCS","HDAC6","HELLS","HERC1","HES7","HIRA","HLA-DQB1","HLA-DRB1","HNRNPU","HPDL","HRAS","HSD17B10","HSPG2","HTRA2","HYDIN","HYLS1","IARS2","IBA57","IDS","IDUA","IFIH1","IFNG","IFT172","IFT43","IFT74","IGHG2","IGKC","IMPDH2","INPP5E","IRF3","IRF4","JMJD1C","KANSL1","KARS1","KATNIP","KDM4B","KDM6A","KIAA0586","KIAA0753","KIF1A","KIF26A","KIF7","KMT2D","KPNA3","KRAS","L1CAM","LAMB1","LARGE1","LETM1","LIG3","LIG4","LMBR1","LMNB1","LMNB2","LONP1","LRPPRC","LRRC56","LSM11","LYRM4","LYRM7","MAD2L2","MADD","MAF","MAN2B1","MAP2K1","MAP2K2","MBTPS2","MC1R","MCIDAS","MDH2","MECP2","MED12","MFN2","MICU1","MKS1","MMACHC","MPDZ","MPV17","MPZ","MRPS34","MT-ATP6","MT-CO1","MT-CO2","MT-CO3","MT-CYB","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND5","MT-ND6","MT-TF","MT-TH","MT-TK","MT-TL1","MT-TN","MT-TQ","MT-TS1","MT-TS2","MT-TV","MT-TW","MTFMT","MTHFR","MTM1","MTRR","MUSK","MYT1L","NADK2","NARS2","NAXE","NDUFA1","NDUFA10","NDUFA11","NDUFA12","NDUFA4","NDUFA6","NDUFA8","NDUFAF1","NDUFAF2","NDUFAF3","NDUFAF4","NDUFAF5","NDUFAF8","NDUFB10","NDUFB11","NDUFB3","NDUFB8","NDUFB9","NDUFS1","NDUFS2","NDUFS3","NDUFS4","NDUFS6","NDUFS7","NDUFS8","NDUFV1","NDUFV2","NEK10","NEU1","NF1","NF2","NFIX","NFU1","NGLY1","NKX3-2","NME5","NME8","NODAL","NOTCH1","NOTCH2","NOTCH2NLC","NOTCH3","NPHP1","NR4A2","NRAS","NRCAM","NSD2","NSUN2","NUBPL","NUP214","OCLN","ODAD1","ODAD2","ODAD3","ODAD4","OFD1","OGDH","OSTM1","P4HB","PAK2","PAK3","PALB2","PDE6D","PDGFB","PDHA1","PDHX","PET100","PET117","PEX19","PEX7","PHYH","PIBF1","PIEZO2","PIGU","PIGV","PIK3CA","PIK3R2","PLCH1","PLG","PMP22","PNPLA8","PNPO","PNPT1","POLG","POLR3A","POMGNT1","POMGNT2","POMK","POMT1","POMT2","POR","PORCN","PPIL1","PPP1CB","PPP1R21","PPP2R1A","PPP2R5D","PRDX1","PRF1","PRKAG2","PRKAR1A","PRNP","PRRT2","PRX","PSAP","PSAT1","PTCH1","PTCH2","PTDSS1","PTEN","PTS","PYCR1","RAC3","RAD51","RAD51C","RANBP2","RARS2","RASA1","RBPJ","RECQL4","RFWD3","RMND1","RNASEH2A","RNASEH2B","RNASEH2C","RNF125","RNU4ATAC","RNU7-1","ROBO1","ROGDI","RPGR","RPGRIP1","RPGRIP1L","RPIA","RREB1","RRM2B","RSPH1","RSPH3","RSPH4A","RSPH9","RSPO2","RTN2","RXYLT1","SALL1","SAMD9","SAMHD1","SCN1A","SCN4A","SCO2","SEC24C","SEC24D","SETD2","SF3B2","SF3B4","SHH","SHOC2","SIK3","SIX3","SKI","SLC12A2","SLC12A6","SLC13A3","SLC13A5","SLC17A5","SLC25A19","SLC25A24","SLC25A4","SLC29A3","SLC2A1","SLC31A1","SLC33A1","SLC39A8","SLC6A3","SLX4","SMARCB1","SMARCC1","SMARCE1","SMC1A","SMO","SMOC1","SNX10","SOX2","SOX9","SPAG1","SPEF2","SPTBN1","STAG2","STAMBP","STAT2","STIL","STK36","STX11","STXBP2","SUCLA2","SUCLG1","SUFU","SUMF1","SURF1","TAF2","TAOK1","TBC1D7","TBCK","TBK1","TBX1","TBX15","TBXT","TCIRG1","TCTN1","TCTN2","TCTN3","TDGF1","TERT","TET3","TGFBR1","TGFBR2","TGIF1","TH","TICAM1","TIMM50","TIMMDC1","TK2","TLR3","TMEM107","TMEM126B","TMEM138","TMEM216","TMEM218","TMEM222","TMEM231","TMEM237","TMEM67","TNFRSF11A","TNFSF11","TOE1","TOGARAM1","TP53","TPK1","TRAF3","TRAF7","TRAPPC12","TREM2","TREX1","TRIM71","TRMT1","TRMT10C","TRNT1","TRPV4","TRPV6","TSC1","TSC2","TSEN15","TSPOAP1","TTC12","TTC26","TTR","TUBB3","TXN2","TXNDC15","TYMP","TYROBP","UBAP1","UBE2T","UFD1","UNC13D","UNC45A","UNC93B1","UQCC2","UQCC3","USP7","VAC14","VAMP1","VANGL1","VANGL2","VPS33A","VPS35L","VSX1","WASHC5","WDR81","WNT3","XRCC2","ZBTB20","ZBTB24","ZIC2","ZIC3","ZMYND10","ZNF423","ZNHIT3","ZPR1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RHEUMATOID_FACTOR_POSITIVE":{"collection":"C5:HPO","systematicName":"M36088","pmid":"","exactSource":"HP:0002923","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002923","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RHEUMATOID_FACTOR_POSITIVE","geneSymbols":["C1QB","CARD10","CASP10","CCN6","CD244","CIITA","CYBC1","FAS","FASLG","HLA-B","IFNGR1","IL10","NFKBIL1","PGM3","PRKCD","PTPN22","RASGRP1","RIPK1","SLC22A4","STING1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ELEVATED_CIRCULATING_THYROID_STIMULATING_HORMONE_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M43279","pmid":"","exactSource":"HP:0002925","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002925","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELEVATED_CIRCULATING_THYROID_STIMULATING_HORMONE_CONCENTRATION","geneSymbols":["ALMS1","CDH23","DCAF17","DUOX2","DUOXA2","GLIS3","GNAS","IYD","MRPS7","NKX2-1","NKX2-5","PAX8","PDGFRB","PLVAP","PMM2","PRKAR1A","PSMB8","SECISBP2","SLC16A2","SLC25A36","SLC35A2","SLC5A5","SMARCAL1","SMC5","TG","THRB","TPO","TRHR","TSHR"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THYROID_PHYSIOLOGY":{"collection":"C5:HPO","systematicName":"M36090","pmid":"","exactSource":"HP:0002926","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002926","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THYROID_PHYSIOLOGY","geneSymbols":["ABCB11","ABCB4","ABCC6","ABCC8","ACP5","ADA","ADAMTSL1","ADAR","ADAT3","ADCY5","AFF4","AIP","AIRE","AKT1","ALB","ALG2","ALG8","ALMS1","ALX4","ANAPC1","APC","APC2","APOE","ARL6IP6","ARNT2","ARVCF","ASH1L","ATP11A","ATP5F1A","ATP5F1D","ATP5F1E","ATP5MK","ATP6V1B2","ATP8B1","ATPAF1","ATPAF2","B3GLCT","B4GALT1","BAP1","BAZ1B","BCL7B","BCOR","BICRA","BMP4","BMP6","BRAF","BTNL2","BUB1","BUB1B","BUB3","BUD23","C1QBP","CACNA1C","CACNA1S","CASZ1","CCDC47","CD55","CDH23","CDKN1B","CDKN1C","CDON","CEP57","CHD7","CHD8","CLCNKB","CLIP2","CLPB","COMT","CPE","CTNNB1","CTNS","CYP27A1","DACT1","DCAF17","DCLRE1C","DDB1","DDOST","DEAF1","DICER1","DIO1","DISP1","DLL1","DMXL2","DNAH1","DNAJC19","DNAJC30","DNM1L","DUOX2","DUOXA2","DYRK1A","EIF2AK3","EIF4H","ELN","ENPP1","EXOSC2","EXT2","FANCI","FARSA","FDX2","FGF13","FGF8","FGFR1","FKBP6","FLCN","FLII","FMR1","FOCAD","FOXA2","FOXE1","FOXG1","FOXH1","FOXI1","FOXP1","FOXP3","FUCA1","FUT8","GABRA3","GABRD","GAS1","GATA1","GATA4","GATA6","GCH1","GLI2","GLI3","GLIS3","GNA11","GNAS","GNB1","GNE","GP1BB","GPR161","GRIA1","GRIN2B","GRM7","GTF2I","GTF2IRD1","GTF2IRD2","GYG1","HBB","HDAC4","HESX1","HFE","HID1","HIRA","HLA-DRB1","HMGA2","HNF1B","HNRNPK","HPD","HSD17B3","HSPG2","HYMAI","IFIH1","IFNG","IGF2","IGSF1","IL2RA","IL2RG","IL6ST","IL7R","IMPDH2","INSR","IPO8","IQSEC2","IRF4","IRS4","ITCH","IYD","JAK1","JMJD1C","KANSL1","KARS1","KAT6B","KATNIP","KCNAB2","KCNJ10","KCNJ11","KCNJ18","KCNJ2","KDM6A","KEAP1","KISS1R","KLF1","KMT2B","KMT2D","LEP","LEPR","LHX3","LHX4","LIFR","LIG4","LIMK1","LRBA","LRP4","LSM11","LUZP1","MADD","MAGEL2","MARS1","MC2R","MCM8","MDM4","MEN1","METTL27","MLXIPL","MMP23B","MOGS","MPI","MRAP","MSTO1","MT-ATP6","MT-ATP8","MT-CO1","MT-CO2","MT-CO3","MT-ND1","MT-ND4","MT-ND5","MT-ND6","MT-TF","MT-TH","MT-TL1","MT-TL2","MT-TN","MT-TQ","MT-TS1","MT-TS2","MT-TW","MTTP","NCF1","NDN","NEXMIF","NF2","NIN","NKX2-1","NKX2-5","NNT","NODAL","NPHS1","NR1H4","NR4A2","NSD1","OCA2","OPA1","OTX2","PAX8","PCSK1","PDE4D","PDGFB","PDPN","PHF21A","PIEZO1","PIK3C2A","PIK3CA","PLAA","PLAG1","PLAGL1","PLCH1","PLVAP","PMM2","PNPLA6","POLG","POLG2","POLR3A","POLR3GL","POMC","POU1F1","POU3F4","PPP1R15B","PRDM16","PRIM1","PRKAR1A","PRKCZ","PROKR2","PROP1","PTCH1","PTEN","PTRH2","RAG1","RAG2","RAI1","RBM28","RERE","RFC2","RMRP","RNASEH2A","RNASEH2B","RNASEH2C","RNU7-1","ROBO1","RPL10","RREB1","RRM2B","SAA1","SALL1","SAMHD1","SASH3","SCN4A","SEC24C","SECISBP2","SETBP1","SETD2","SGPL1","SHH","SIM1","SIX3","SKI","SKIC2","SKIC3","SLC12A3","SLC16A2","SLC25A36","SLC25A4","SLC26A4","SLC37A4","SLC5A5","SLC6A17","SLF2","SMARCAL1","SMARCB1","SMARCE1","SMC1A","SMO","SNRPN","SOX3","SPEN","SPOP","SRD5A3","SRY","STAG2","STAR","STAT1","STAT3","STEAP3","STIL","STUB1","STX1A","SUFU","SUGCT","SUPT16H","SVBP","TANGO2","TBC1D24","TBCK","TBL1X","TBL2","TBX1","TDGF1","TERT","TF","TG","TGIF1","THRA","THRB","TIAM1","TMEM270","TMEM67","TOM1","TONSL","TPO","TRAF7","TRAPPC9","TREX1","TRH","TRHR","TRIP13","TRMT10A","TSC1","TSC2","TSHB","TSHR","TTR","TWNK","TXNRD2","UBE4B","UBR1","UBR7","UFD1","USP9X","VPS37D","WDR11","WDR4","WFS1","XRCC4","YRDC","YY1","ZBTB20","ZFP57","ZIC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DECREASED_ACTIVITY_OF_THE_PYRUVATE_DEHYDROGENASE_COMPLEX":{"collection":"C5:HPO","systematicName":"M36091","pmid":"","exactSource":"HP:0002928","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002928","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_ACTIVITY_OF_THE_PYRUVATE_DEHYDROGENASE_COMPLEX","geneSymbols":["BOLA3","DLAT","ECHS1","GLRX5","LIAS","PDHA1","PDHB","PDHX","PDP1","SLC39A8"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DISTAL_SENSORY_IMPAIRMENT":{"collection":"C5:HPO","systematicName":"M36092","pmid":"","exactSource":"HP:0002936","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002936","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DISTAL_SENSORY_IMPAIRMENT","geneSymbols":["AARS1","AASS","ABCD1","ABHD12","ADA2","ADCY6","AIFM1","ALDH4A1","APTX","ATL1","ATL3","ATP13A2","ATP7A","ATXN1","ATXN10","BAG3","BSCL2","C19orf12","CADM3","CAPN1","CAV1","CAV3","CCT5","CHCHD10","COA7","COX6A1","CYP7B1","DARS2","DCAF8","DDHD1","DHH","DNAJB2","DNM2","DYNC1H1","EGR2","FBLN5","FGD4","FIG4","GAN","GARS1","GBE1","GBF1","GDAP1","GJB1","GJC2","GNB4","HARS1","HINT1","HK1","HSPB1","HSPB8","IARS2","IBA57","IGHMBP2","INF2","ITPR3","JPH1","KARS1","KIF1A","KIF1B","KIF5A","KLHL9","KPNA3","LITAF","LMNA","LMNB1","LRSAM1","MARS1","MATR3","MCM3AP","MED25","MFN2","MME","MORC2","MPV17","MPZ","MSTO1","MTMR2","MTRFR","MTTP","MYH14","NAGA","NAGLU","NDRG1","NEFH","NEFL","NTRK1","PDK3","PDYN","PEX10","PIK3R5","PLEKHG5","PMP2","PMP22","PNKP","PNPT1","POLG","POLR3A","POLR3B","PRPS1","PRX","RAB7A","RAI1","RASA1","REEP1","SACS","SAMD9L","SBF1","SBF2","SCYL1","SERPINI1","SETX","SH3TC2","SLC25A19","SLC25A46","SOX10","SPG11","SPTLC1","SPTLC2","SYT2","TDP1","TFG","TK2","TRPV4","TWNK","TYMP","VCP","XPA","XRCC1","YARS1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HEMIVERTEBRAE":{"collection":"C5:HPO","systematicName":"M36093","pmid":"","exactSource":"HP:0002937","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002937","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEMIVERTEBRAE","geneSymbols":["ACTB","ATP6V1B2","ATRX","B3GLCT","CAPN15","CCDC22","CDK10","CHD7","DLK1","DLL3","DPP9","DPYSL5","DVL1","DVL3","EBP","EIF5A","FANCB","FGFR1","FZD2","GLI3","H3-3B","HES7","IKBKG","JAG1","KDM6A","KMT2D","KYNU","LRP4","LYSET","MADD","MBD5","MBTPS2","MEG3","MESP2","MYH3","ORC1","PAICS","POR","PTCH1","PTCH2","PTDSS1","PUF60","RAD21","RIPPLY2","ROR2","RTL1","SEMA3E","SF3B2","SIX6","SON","SOX2","STAG2","SUFU","TBC1D24","TBX2","TBX6","TMCO1","VPS35L","WASHC5","WNT5A","WNT7A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LUMBAR_HYPERLORDOSIS":{"collection":"C5:HPO","systematicName":"M36094","pmid":"","exactSource":"HP:0002938","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002938","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LUMBAR_HYPERLORDOSIS","geneSymbols":["ABCC9","ACAN","ACP5","ADAMTS10","ALG14","ALG2","ALX3","AP1G1","ARSB","ASH1L","BCOR","BGN","CFL2","CHST11","CHST3","CLCF1","COL10A1","COL11A2","COL12A1","COL27A1","COL2A1","COL6A1","COL6A2","COL6A3","COMP","DAG1","DDRGK1","DMD","DPAGT1","DYM","EXTL3","FBN1","FGFR3","FKRP","FN1","FUCA1","GARS1","GFPT1","GMPPB","GSC","HACE1","HERC1","HSPG2","IHH","ITCH","KY","LIPE","LMX1B","LTBP1","MATN3","MED12","MFN2","MYBPC1","MYH7","MYPN","NAA10","NPR2","NSDHL","OBSL1","PCGF2","PIEZO2","PLEC","POLR3GL","POMGNT1","POMK","POMT1","POMT2","PRG4","PRKG2","RAB3GAP2","RERE","RMRP","RYR1","SATB2","SETBP1","SGCG","SHOX","SLC26A2","SMARCAL1","SON","SOX5","SYT1","TMEM63C","TOGARAM1","TONSL","TPM2","TPM3","TRAPPC2","TRPV4","VAC14","VCP","VPS13B","VPS33A","XYLT1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_THORACIC_KYPHOSIS":{"collection":"C5:HPO","systematicName":"M36095","pmid":"","exactSource":"HP:0002942","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002942","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THORACIC_KYPHOSIS","geneSymbols":["AARS1","AIFM1","ALDH3A2","AMER1","ANKRD11","AP1G1","CARS1","CCN6","CDH11","COL2A1","CYP27A1","DMD","DYM","ERCC2","ERCC3","EXTL3","FBXO28","FGFR3","FLNB","GBA1","GLB1","GNPTAB","GTF2E2","GTF2H5","GUSB","HECTD4","KIF22","KY","LBR","LHX3","MAN2B1","MED12L","MGAT2","MPLKIP","NARS1","NEPRO","NFIX","NPR2","PHF8","PIK3C2A","POP1","PRKG2","PUF60","RMRP","RNF113A","RYR1","SLC26A2","SMARCAL1","SRD5A3","TARS1","TMEM231","TONSL","TRAPPC2","TRPV4","VPS33A","WDR81","XYLT2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_THORACIC_SCOLIOSIS":{"collection":"C5:HPO","systematicName":"M36096","pmid":"","exactSource":"HP:0002943","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002943","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THORACIC_SCOLIOSIS","geneSymbols":["ACTA1","ADGRG6","AEBP1","AGRN","AK9","ALMS1","BAG3","CHRNA1","CHRNB1","CHRND","CHRNE","COG1","COL13A1","COL2A1","DES","DMD","DOK7","ERLIN1","GDF3","GNS","HINT1","IARS2","ITCH","KMT2D","LMNA","LRP4","MOGS","MTRFR","MUSK","MYH7","MYPN","NEK9","NFIX","NKX3-2","PCGF2","PEX5","PIK3R2","PLK4","PLOD1","PRKG2","PUF60","PYCR2","RAB3GAP2","RAB5IF","RAPSN","RBBP8","SCN4A","SERPINH1","SGCA","SOX5","SOX9","SPRTN","TBX5","TPM2","TPM3","TUBB3","VPS13B","WDR81","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_THORACOLUMBAR_SCOLIOSIS":{"collection":"C5:HPO","systematicName":"M36097","pmid":"","exactSource":"HP:0002944","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002944","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THORACOLUMBAR_SCOLIOSIS","geneSymbols":["ALMS1","AP1G1","ASH1L","ATG7","ATP6V1B2","CCN6","CDH11","CHRNG","CLCF1","COL1A2","COL2A1","COL6A2","GLIS3","GNB2","GNPTAB","HNRNPK","HYAL1","IDH1","IGBP1","IL6ST","LBR","LHX3","LONP1","MAPK8IP3","MED12","MGAT2","MYO18B","NEPRO","NIN","PAPSS2","PDGFRB","PIEZO2","PLK4","POP1","ROBO3","ROR2","RPL10","RSPRY1","SLC26A2","SLC35B2","TBC1D24","USP9X"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INTERVERTEBRAL_SPACE_NARROWING":{"collection":"C5:HPO","systematicName":"M36098","pmid":"","exactSource":"HP:0002945","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002945","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTERVERTEBRAL_SPACE_NARROWING","geneSymbols":["BPNT2","CHST3","COL2A1","FN1","LTBP3","MT-ATP8","MT-TL1","RRM2B","TRAPPC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SUPERNUMERARY_VERTEBRAE":{"collection":"C5:HPO","systematicName":"M43280","pmid":"","exactSource":"HP:0002946","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002946","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUPERNUMERARY_VERTEBRAE","geneSymbols":["DHODH","GDF11","GPC3","GPC4","PAX3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CERVICAL_KYPHOSIS":{"collection":"C5:HPO","systematicName":"M36099","pmid":"","exactSource":"HP:0002947","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002947","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CERVICAL_KYPHOSIS","geneSymbols":["ARSL","CHST14","DSE","FLNB","GZF1","HSPG2","RIPPLY2","SLC26A2","SOX9"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_VERTEBRAL_FUSION":{"collection":"C5:HPO","systematicName":"M36100","pmid":"","exactSource":"HP:0002948","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002948","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VERTEBRAL_FUSION","geneSymbols":["ABCC6","ACVR1","AEBP1","AFF4","ANKRD11","ASH1L","ASXL2","BMPER","BRPF1","CDH11","CHD4","CHN1","CHRNA1","CHRND","CHRNG","COL2A1","CPLX1","CTBP1","DCC","DKK1","DLL3","DNAL4","ENPP1","FANCI","FGD1","FGFR2","FGFRL1","FKRP","FLNA","FLNB","FN1","FUZ","GDF3","GDF5","GDF6","GPC3","GPC4","HES7","HGD","IL1RN","KANSL1","LETM1","MAFB","MAP3K7","MEOX1","MESP2","MYH3","MYO18B","NADSYN1","NOG","NOTCH3","NSD2","NTN1","PTCH1","PTCH2","PUF60","RAD51","RBM8A","ROR2","SALL4","SF3B2","SIX6","SMAD4","SOX2","SOX5","SUFU","TBX6","TMCO1","VANGL1","WBP11","ZIC3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FUSED_CERVICAL_VERTEBRAE":{"collection":"C5:HPO","systematicName":"M36101","pmid":"","exactSource":"HP:0002949","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002949","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FUSED_CERVICAL_VERTEBRAE","geneSymbols":["ABCC6","ACVR1","AEBP1","AFF4","ASH1L","ASXL2","BRPF1","CDH11","CHD4","CHRNG","COL2A1","DCC","DKK1","DNAL4","ENPP1","FANCI","FGFR2","FLNA","FLNB","GDF3","GDF6","IL1RN","MAP3K7","MEOX1","MYH3","MYO18B","NOG","NTN1","PUF60","RAD51","RBM8A","SALL4","WBP11"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PARTIAL_ABSENCE_OF_CEREBELLAR_VERMIS":{"collection":"C5:HPO","systematicName":"M46080","pmid":"","exactSource":"HP:0002951","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002951","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PARTIAL_ABSENCE_OF_CEREBELLAR_VERMIS","geneSymbols":["OPHN1","PACS1","PIGN","PLCH1","POMT2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_VERTEBRAL_COMPRESSION_FRACTURE":{"collection":"C5:HPO","systematicName":"M36102","pmid":"","exactSource":"HP:0002953","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002953","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VERTEBRAL_COMPRESSION_FRACTURE","geneSymbols":["AIP","ATRX","BRAF","CCND1","CDH23","CREB3L1","CRTAP","DDRGK1","DKK1","DNAJC21","EFL1","FKBP10","GBA1","GORAB","LRP5","MESD","MMP2","NFATC2","NOTCH2","NR3C1","P3H1","P4HB","PYCR1","SBDS","SCARB2","SERPINF1","SERPINH1","SMS","SPARC","SRP54","TENT5A","TNFRSF11A","TP53","UROS","USP48","USP8","WNT1","WNT3A","XYLT2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_GRANULOMATOSIS":{"collection":"C5:HPO","systematicName":"M36103","pmid":"","exactSource":"HP:0002955","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002955","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GRANULOMATOSIS","geneSymbols":["ASAH1","CTLA4","CYBA","CYBB","HLA-DPA1","HLA-DPB1","NCF1","NCF2","PRTN3","PTPN22"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_IMMUNE_DYSREGULATION":{"collection":"C5:HPO","systematicName":"M36104","pmid":"","exactSource":"HP:0002958","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002958","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMMUNE_DYSREGULATION","geneSymbols":["ACP5","FOXP3","LAT","LEPR","PLCG2","PRF1","STAT1","STX11","STXBP2","TOM1","UNC13D"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_AUTOIMMUNITY":{"collection":"C5:HPO","systematicName":"M36105","pmid":"","exactSource":"HP:0002960","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002960","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AUTOIMMUNITY","geneSymbols":["ABCB11","ABCB4","ABCC8","ACP5","ADA","ADA2","ADAR","AGRN","AIRE","AKT2","ALG14","ANKRD55","APPL1","ARHGEF1","ARPC1B","ARVCF","ATP8B1","BACH2","BANK1","BLK","BTK","C1GALT1C1","C1QA","C1QB","C1QC","C1R","C1S","C2","C3","C4A","C4B","C8A","CALR","CARD10","CASP10","CAV1","CCN2","CCN6","CCR6","CD19","CD244","CD247","CD3G","CD81","CDKN1B","CEL","CFTR","CHAT","CHD7","CHRNA1","CHRNB1","CHRND","CHRNE","CIITA","CLCNKB","CLPB","COL13A1","COL4A5","COL4A6","COLQ","COMT","COPA","CORIN","CR2","CRYAB","CSF2RA","CSF2RB","CTLA4","CTNNB1","CTNNBL1","CYBC1","DCLRE1C","DDX41","DEF6","DNAJC3","DNASE1","DNASE1L3","DOK7","DUT","EIF2AK4","ELANE","ETS1","FADD","FAS","FASLG","FCGR2A","FCGR2B","FCGR3B","FLT1","FMR1","FOXD3","FOXP3","GALC","GATA2","GCK","GFI1","GLIS3","GNAS","GP1BB","GPR35","GRIN2A","HAVCR2","HIRA","HLA-B","HLA-DPA1","HLA-DPB1","HLA-DQB1","HLA-DRB1","HNF1A","HNF4A","HYMAI","ICOS","IFIH1","IFNG","IFNGR1","IGHG1","IGHG2","IGKC","IKBKG","IL10","IL12A","IL12RB1","IL18BP","IL2RA","IL2RB","IL2RG","IL6","IL7R","INS","IRAK1","IRF2BP2","IRF5","ITCH","ITGAM","ITK","ITPR3","JAK2","JAZF1","JMJD1C","KCNJ11","KDM6A","KIAA0319L","KLF11","KMT2D","KRAS","LACC1","LAT","LBR","LCK","LCP2","LEMD3","LIG4","LMNB2","LRBA","LSM11","MAGT1","MASP2","MC2R","MECP2","MIF","MMEL1","MMP2","MPL","MRAP","MS4A1","MST1","MTHFD1","MYO9A","NARS2","NBN","NEUROD1","NFKB1","NFKB2","NFKBIA","NFKBIL1","NHEJ1","NLRP1","NNT","NR1H4","NRAS","PAX4","PDCD1","PDX1","PEPD","PGM3","PI4KA","PIK3CD","PIK3CG","PIK3R1","PLAGL1","PLCG2","PLEC","PNP","POLG","POMP","POU2AF1","PREPL","PRF1","PRKCD","PRTN3","PSMG2","PTEN","PTPN2","PTPN22","PXK","RAG1","RAG2","RAPSN","RASGRP1","RFX5","RFXANK","RFXAP","RHAG","RHCE","RHD","RIPK1","RMRP","RNASEH2A","RNASEH2B","RNASEH2C","RNU7-1","RREB1","SAMHD1","SASH3","SAT1","SBDS","SCN4A","SEC23B","SEC24C","SEMA4D","SEMA6B","SERPING1","SLC12A3","SLC18A3","SLC22A4","SLC25A1","SLC5A7","SLC7A7","SMARCAL1","SMPD1","SNAP25","SOCS1","SPIB","SPP1","SRP19","SRP54","STAR","STAT1","STAT3","STAT4","STIM1","STING1","STK4","STOX1","STX16","SYT2","TBX1","TBX2","TCF4","TCIRG1","TERC","TERT","TET2","THRB","TLR7","TLR8","TNFAIP3","TNFRSF13B","TNFRSF13C","TNFSF12","TNFSF15","TNFSF4","TNIP1","TNPO3","TOM1","TPP2","TRAC","TRAPPC2","TREX1","TRHR","TRMT10A","TSHB","TSHR","TTC7A","TXNRD2","UBA1","UBE2L3","UFD1","VAMP1","WAS","WIPF1","ZAP70","ZFP57"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DYSGAMMAGLOBULINEMIA":{"collection":"C5:HPO","systematicName":"M41268","pmid":"","exactSource":"HP:0002961","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002961","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DYSGAMMAGLOBULINEMIA","geneSymbols":["CD40LG","IKBKG","NBN","SH2D1A","XIAP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_DELAYED_HYPERSENSITIVITY_SKIN_TEST":{"collection":"C5:HPO","systematicName":"M36106","pmid":"","exactSource":"HP:0002963","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002963","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_DELAYED_HYPERSENSITIVITY_SKIN_TEST","geneSymbols":["CASP10","CIITA","EPG5","FAS","FASLG","JAK3","NSMCE3","RAB27A","RFX5","RFXANK","RFXAP","WAS"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CUTANEOUS_ANERGY":{"collection":"C5:HPO","systematicName":"M36107","pmid":"","exactSource":"HP:0002965","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002965","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CUTANEOUS_ANERGY","geneSymbols":["CIITA","EPG5","JAK3","RFX5","RFXANK","RFXAP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CUBITUS_VALGUS":{"collection":"C5:HPO","systematicName":"M36108","pmid":"","exactSource":"HP:0002967","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002967","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CUBITUS_VALGUS","geneSymbols":["ASPH","BCOR","BPTF","BRAF","CBL","CHST3","CLCF1","CUL4B","DYNC2LI1","EVC","EVC2","FGF9","GJA1","GLI1","HEATR3","IL6ST","KDM5C","KRAS","LARS2","LMBRD2","LMX1B","LZTR1","MAP2K1","MAP2K2","MAPK1","NF1","NOG","NUP107","PEX1","PEX2","PEX5","POP1","POR","PRKACA","PRKACB","PRMT7","PSMD12","PTH1R","PTPN11","RAF1","RSPRY1","SFRP4","SHOC2","SHOX","SIL1","SOS1","SPRED2","SRY","TUBB3","VPS13B","WDR11","WNT4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_GENU_VARUM":{"collection":"C5:HPO","systematicName":"M36109","pmid":"","exactSource":"HP:0002970","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002970","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENU_VARUM","geneSymbols":["ACAN","ACTA1","ANAPC1","BGN","CANT1","CCN6","CFL2","COL10A1","COL2A1","COL9A1","COL9A2","COL9A3","COMP","CYP27B1","CYP2R1","CYP3A4","DDRGK1","DMP1","DYM","EFL1","ENPP1","FGFR3","FN1","HPGD","IDH1","IHH","KAT6A","KIF22","KLHL41","LMOD3","LTBP1","MATN3","MMP13","MMP9","NEB","NKX3-2","ORC1","ORC6","PHEX","POLR3A","POLRMT","PRKG2","RAB23","RBM8A","RECQL4","RMRP","RPL13","SHOX","SLCO2A1","TCTN3","TONSL","TPM2","TRIP11","TRPV4","UFSP2","VDR","WDR62","XYLT1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_REDUCED_DELAYED_HYPERSENSITIVITY":{"collection":"C5:HPO","systematicName":"M41269","pmid":"","exactSource":"HP:0002972","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002972","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_DELAYED_HYPERSENSITIVITY","geneSymbols":["CASP10","FAS","FASLG","NSMCE3","RAB27A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_FOREARM_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M36110","pmid":"","exactSource":"HP:0002973","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002973","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FOREARM_MORPHOLOGY","geneSymbols":["AEBP1","AFF3","AFF4","AGA","ALG12","ANAPC1","APC","ARID1B","ASXL1","ATR","B2M","B3GALT6","B3GAT3","B4GALT7","BAZ1B","BCL7B","BCOR","BGN","BHLHA9","BICRA","BMP1","BMPR1B","BRAF","BRCA1","BRCA2","BRD4","BRIP1","BUD23","CANT1","CBL","CCDC8","CCNQ","CD96","CDC45","CHD7","CHN1","CHRNG","CHST3","CHSY1","CILK1","CLCN3","CLIP2","COL10A1","COL11A1","COL1A1","COL27A1","COL2A1","COL5A1","COL5A2","COL7A1","COL9A1","COL9A2","COL9A3","COLEC10","COLEC11","COMP","CPLX1","CREBBP","CSGALNACT1","CTBP1","CUL7","CYP26B1","DHCR7","DHODH","DNAJC30","DONSON","DVL1","DYNC2H1","EIF4A3","EIF4H","ELN","EP300","ERCC1","ERCC4","ESCO2","EXOC6B","EXT1","EXT2","EXTL3","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FGF10","FGF23","FGF9","FGFR1","FGFR2","FGFR3","FGFRL1","FKBP10","FKBP6","FLNA","FLNB","FZD2","GDF5","GLI3","GPC6","GSC","GTF2I","GTF2IRD1","GTF2IRD2","HDAC8","HOXA11","HOXD13","IFIH1","IFITM5","IFT43","IFT81","IHH","JAG1","KAT6B","KIF22","KRAS","L1CAM","LAMA5","LBR","LETM1","LIMK1","LMBR1","LMX1B","LRP4","LZTR1","MACROH2A1","MAD2L2","MAF","MAFB","MAGEL2","MAP2K1","MAP2K2","MAP3K7","MASP1","MECOM","METTL27","MLXIPL","MMP13","MMP9","MRAS","MYH3","NALCN","NCF1","NDN","NIPBL","NOG","NOTCH2","NPR2","NRAS","NSD2","OBSL1","P3H1","PALB2","PCNT","PDE4D","PIEZO2","PIGT","PITX1","PLXND1","POR","PRKAR1A","PRKG2","PTDSS1","PTPN11","RAB3GAP2","RAD21","RAD51","RAD51C","RAF1","RAI1","RASA2","RBM10","RBM8A","RECQL4","REV3L","RFC2","RFWD3","RIPK4","RIT1","RNU4ATAC","ROR2","RPL26","RPS19","RRAS","RRAS2","SALL4","SAMD9","SCARF2","SETBP1","SF3B4","SHH","SHOX","SKI","SLC26A2","SLC39A13","SLX4","SMAD6","SMC1A","SMC3","SNRPN","SOS1","SOS2","SOX9","SPRED2","SRCAP","STX1A","TAPT1","TBL2","TBX15","TBX22","TBX3","TBX5","TGFB1","TMEM270","TMEM67","TNFRSF11A","TNNI2","TNNT3","TPM2","TRIO","TRIP11","TRPV4","TWIST1","UBE2T","VPS35L","VPS37D","WNT5A","WNT7A","XRCC2","XYLT1","ZIC3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RADIOULNAR_SYNOSTOSIS":{"collection":"C5:HPO","systematicName":"M36111","pmid":"","exactSource":"HP:0002974","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002974","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RADIOULNAR_SYNOSTOSIS","geneSymbols":["APC","B3GALT6","B3GAT3","B4GALT7","BAZ1B","BCL7B","BCOR","BICRA","BRD4","BUD23","CANT1","CBL","CHST3","CHSY1","CLIP2","COLEC10","COLEC11","CPLX1","CSGALNACT1","CTBP1","DHODH","DNAJC30","DONSON","EIF4H","ELN","ESCO2","FGFR2","FGFR3","FGFRL1","FKBP6","GTF2I","GTF2IRD1","GTF2IRD2","HDAC8","HOXA11","KAT6B","KRAS","LETM1","LIMK1","LRP4","LZTR1","MAF","MASP1","MECOM","METTL27","MLXIPL","MRAS","NCF1","NIPBL","NRAS","NSD2","PIEZO2","POR","PTPN11","RAD21","RAF1","RASA2","RFC2","RIT1","RPL26","RRAS","RRAS2","SALL4","SETBP1","SF3B4","SMAD6","SMC1A","SMC3","SOS1","SOS2","SPRED2","STX1A","TBL2","TBX22","TBX5","TMEM270","TWIST1","VPS37D","XYLT1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BOWING_OF_THE_LEGS":{"collection":"C5:HPO","systematicName":"M36112","pmid":"","exactSource":"HP:0002979","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002979","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BOWING_OF_THE_LEGS","geneSymbols":["ACAN","ACP5","ACTA1","ADNP","ALPL","ANAPC1","ARCN1","ARSB","ARSK","ATP7A","ATRX","B3GALT6","B3GAT3","BAZ1B","BCL7B","BCOR","BGN","BHLHA9","BMP1","BPNT2","BRAF","BRF1","BUD23","CAMK2A","CANT1","CBFB","CBS","CCDC47","CCN6","CDC45","CENPT","CFL2","CHST3","CILK1","CLCN5","CLCN7","CLIP2","CLTCL1","COG5","COL10A1","COL11A1","COL11A2","COL1A1","COL1A2","COL2A1","COL9A1","COL9A2","COL9A3","COMP","CPLANE1","CRTAP","CSGALNACT1","CTC1","CTNS","CYP19A1","CYP27B1","CYP2R1","CYP3A4","DDR2","DDRGK1","DLK1","DMP1","DNAJC30","DYM","DYNC2H1","DYNC2I1","DYNC2LI1","EFL1","EHHADH","EIF2AK3","EIF4H","ELN","ENPP1","EVC","EVC2","EXT1","EXT2","FBN1","FGF23","FGFR2","FGFR3","FIBP","FKBP6","FLNA","FLNB","FN1","GALNS","GAN","GDF5","GLB1","GLI1","GNPTG","GORAB","GTF2I","GTF2IRD1","GTF2IRD2","GUSB","H3-3B","HBB","HEATR3","HERC2","HPGD","HS2ST1","HS6ST1","HSPG2","IARS2","IDH1","IDUA","IFIH1","IFT172","IFT57","IHH","IL6ST","IPO8","KAT6A","KDELR2","KIF22","KIF7","KLHL41","KRAS","LAMA5","LBR","LIFR","LIMK1","LMOD3","LONP1","LRP5","LTBP1","MAGEL2","MAN2B1","MAP2K1","MAP2K2","MAPK8IP3","MATN3","MBTPS2","MCTP2","MEG3","MEGF8","METTL27","MKRN3","MLXIPL","MMP13","MMP9","MPZ","MTAP","MTX2","NCF1","NDUFAF6","NEB","NEK8","NEK9","NEPRO","NF1","NKX3-2","NOTCH2","NPAP1","NSD1","OCRL","ORC1","ORC6","P3H1","P4HTM","PAPSS2","PCNT","PCYT1A","PDGFRB","PEPD","PHEX","PLOD2","PMP22","POLR1A","POLR3A","POLRMT","POR","PRKACA","PRKACB","PRKG2","PUS3","PWAR1","PWRN1","RAB23","RAB33B","RAD21","RBM8A","RECQL4","RFC2","RMRP","RNU4ATAC","RPGRIP1L","RPL13","RSPRY1","RTL1","RUNX2","SATB2","SCARF2","SERPINH1","SETBP1","SF3B2","SFRP4","SGMS2","SHOX","SKI","SLC10A7","SLC26A2","SLC34A1","SLC34A3","SLCO2A1","SMOC1","SNORD115-1","SNORD116-1","SOX9","SP7","SPART","SPTBN1","STX1A","TBC1D7","TBL2","TCTN3","TENT5A","TFE3","TGDS","TGFB1","TMEM270","TMEM38B","TNFRSF11A","TNFRSF11B","TNFSF11","TONSL","TPM2","TRIP11","TRPS1","TRPV4","TRPV6","TUBB3","UFSP2","UGP2","VDR","VPS13B","VPS37D","WDR62","WNT7A","XYLT1","ZBTB20","ZEB2","ZNF699","ZPR1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FEMORAL_BOWING":{"collection":"C5:HPO","systematicName":"M36113","pmid":"","exactSource":"HP:0002980","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002980","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FEMORAL_BOWING","geneSymbols":["BHLHA9","BMP1","CLCN5","COL10A1","COL11A1","COL1A1","COL1A2","CYP27B1","CYP2R1","DMP1","DYM","DYNC2H1","DYNC2I1","ENPP1","FGFR2","FGFR3","FLNA","GDF5","GORAB","LAMA5","LBR","LIFR","MAN2B1","MATN3","MMP13","NEK8","NEK9","NEPRO","P3H1","PCYT1A","PHEX","PLOD2","POLR1A","POR","PRKG2","RBM8A","RMRP","RNU4ATAC","RSPRY1","SCARF2","SGMS2","SLC34A3","SOX9","TENT5A","TMEM38B","TNFRSF11A","TNFRSF11B","TRPV6","VDR","WNT7A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_CALF":{"collection":"C5:HPO","systematicName":"M36114","pmid":"","exactSource":"HP:0002981","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002981","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_CALF","geneSymbols":["ACAN","ACP5","ACTA1","ACTB","ADGRV1","ADNP","AFF3","AFF4","AIFM1","ALG12","ALPL","AMER1","ANAPC1","ARCN1","ARSB","ARSK","ATP7A","ATR","ATRX","B3GALT6","B3GAT3","BAZ1B","BCL7B","BCOR","BGN","BHLHA9","BMP1","BMPR1B","BPNT2","BRAF","BRF1","BUD23","CAMK2A","CANT1","CBFB","CBS","CCDC47","CCN6","CDC45","CENPT","CEP120","CFL2","CHD7","CHEK2","CHST3","CILK1","CLCN5","CLCN7","CLIP2","CLTCL1","COG4","COG5","COL10A1","COL11A1","COL11A2","COL1A1","COL1A2","COL2A1","COL9A1","COL9A2","COL9A3","COMP","CPLANE1","CRTAP","CSGALNACT1","CTC1","CTNS","CYP19A1","CYP27A1","CYP27B1","CYP2R1","CYP3A4","DDR2","DDRGK1","DDX6","DLK1","DMP1","DNAJC30","DONSON","DYM","DYNC2H1","DYNC2I1","DYNC2LI1","EFL1","EHHADH","EIF2AK3","EIF4A3","EIF4H","ELN","EN1","ENPP1","EVC","EVC2","EXT1","EXT2","FBN1","FGF23","FGFR2","FGFR3","FIBP","FKBP6","FLNA","FLNB","FN1","FZD2","GABRA1","GABRD","GABRG2","GALNS","GAN","GDF5","GLB1","GLI1","GLI3","GNPTG","GORAB","GPC6","GPX4","GTF2I","GTF2IRD1","GTF2IRD2","GUSB","H3-3B","HBB","HCN1","HEATR3","HERC2","HPGD","HS2ST1","HS6ST1","HSPG2","HYLS1","IARS2","IDH1","IDUA","IFIH1","IFT122","IFT172","IFT57","IHH","IL6ST","INPPL1","INTU","IPO8","KAT6A","KDELR2","KIF22","KIF7","KLHL41","KRAS","LAMA5","LBR","LIFR","LIMK1","LMBR1","LMOD3","LMX1B","LONP1","LRP5","LTBP1","MAGEL2","MAN2B1","MAP2K1","MAP2K2","MAPK8IP3","MATN3","MBTPS2","MCTP2","MEG3","MEGF8","MET","METTL27","MKRN3","MLXIPL","MMP13","MMP9","MPZ","MTAP","MTX2","NANS","NCF1","NDUFAF6","NEB","NEK1","NEK8","NEK9","NEPRO","NF1","NKX3-2","NOTCH2","NPAP1","NSD1","OCRL","ORC1","ORC6","P3H1","P4HTM","PAPPA2","PAPSS2","PCDH19","PCNT","PCYT1A","PDGFRB","PEPD","PHEX","PITX1","PLOD2","PMP22","POLR1A","POLR3A","POLRMT","POR","PRKACA","PRKACB","PRKG2","PRR12","PTH1R","PUS3","PWAR1","PWRN1","RAB23","RAB33B","RAD21","RB1","RBM8A","RECQL4","RFC2","RMRP","RNU4ATAC","RPGRIP1L","RPL13","RSPRY1","RTL1","RUNX2","SATB2","SCARF2","SCN1A","SCN1B","SCN2A","SCN9A","SEMA3E","SERPINH1","SETBP1","SF3B2","SF3B4","SFRP4","SGMS2","SHH","SHOX","SKI","SLC10A7","SLC26A2","SLC29A3","SLC31A1","SLC34A1","SLC34A3","SLC35A2","SLC35D1","SLCO2A1","SMOC1","SNORD115-1","SNORD116-1","SOX9","SP7","SPART","SPTBN1","STX1A","STX1B","TAPT1","TBC1D7","TBL2","TBX15","TBXAS1","TCTN3","TENT5A","TFE3","TGDS","TGFB1","TMEM270","TMEM38B","TNFRSF11A","TNFRSF11B","TNFSF11","TONSL","TP53","TPM2","TRAPPC2","TRIP11","TRPS1","TRPV4","TRPV6","TUBB3","UFSP2","UGP2","VDR","VPS13B","VPS37D","WDR62","WNT7A","XYLT1","ZBTB20","ZEB2","ZNF699","ZPR1","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_TIBIAL_BOWING":{"collection":"C5:HPO","systematicName":"M36115","pmid":"","exactSource":"HP:0002982","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002982","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TIBIAL_BOWING","geneSymbols":["CHST3","CILK1","CLCN5","CLTCL1","COL10A1","COL11A2","COL1A1","COL1A2","COL2A1","CPLANE1","CYP27B1","CYP2R1","DLK1","DMP1","DYM","ENPP1","FGFR3","FIBP","FLNA","FLNB","FN1","GORAB","LIFR","LRP5","MEG3","MMP13","P3H1","PCNT","PCYT1A","PDGFRB","PHEX","RMRP","RTL1","SATB2","SERPINH1","SETBP1","SHOX","SLC34A3","SMOC1","SOX9","VDR"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MICROMELIA":{"collection":"C5:HPO","systematicName":"M36116","pmid":"","exactSource":"HP:0002983","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002983","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MICROMELIA","geneSymbols":["ACAN","ACTB","ALPL","ANTXR2","APC","B3GLCT","BMPR1B","BRD4","CCDC8","CD96","CDKN1C","CEP120","CILK1","COL11A1","COL11A2","COL2A1","CRTAP","CSGALNACT1","CUL7","DDR2","DDRGK1","DHCR24","DHCR7","DONSON","DPYD","DVL1","DVL3","DYNC2H1","DYNC2I1","DYNC2I2","DYNC2LI1","EVC","EVC2","FAM20C","FGFR2","FGFR3","FLNB","FZD2","GDF5","GLI1","GLUL","GPC6","HDAC8","HHAT","HSPG2","HYLS1","IDH1","IDH2","IFT140","IFT172","IFT43","IFT80","IFT81","IHH","IL6ST","INPPL1","KIAA0586","KIAA0753","KIF7","LBR","LIFR","LRP4","MATN3","MMP9","NBAS","NIPBL","OBSL1","PAM16","PCNT","PDE4D","PHGDH","POLE","PRKACA","PRKACB","PRKAR1A","PTH1R","PUF60","RAD21","RMRP","RNU4ATAC","SERPINH1","SHOX","SLC26A2","SLC35D1","SMC1A","SMC3","SMO","TCTN3","TRIP11","TRPV4","TTC21B","WDR19","WDR35","WNT5A","WNT7A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPOPLASIA_OF_THE_RADIUS":{"collection":"C5:HPO","systematicName":"M36117","pmid":"","exactSource":"HP:0002984","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002984","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASIA_OF_THE_RADIUS","geneSymbols":["AFF4","ALG12","APC","ATR","CCNQ","CHN1","DHODH","DONSON","EIF4A3","ESCO2","FANCB","FANCF","FANCI","FGF10","FGFR2","FGFR3","GDF5","IFT81","IHH","LRP4","MAFB","NIPBL","NPR2","PDE4D","PRKAR1A","RAD51C","RBM10","RBM8A","RECQL4","RFWD3","ROR2","RPL26","RPS19","SALL4","SF3B4","SHOX","SLX4","TBX3","TBX5","TRIP11","WNT7A","XRCC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RADIAL_BOWING":{"collection":"C5:HPO","systematicName":"M36118","pmid":"","exactSource":"HP:0002986","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002986","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RADIAL_BOWING","geneSymbols":["B2M","B3GALT6","COL11A1","COL2A1","FGF23","FGFR3","FLNA","FLNB","GDF5","GLI3","HOXA11","IFT43","IHH","LBR","MMP13","NPR2","P3H1","PCNT","PRKG2","ROR2","SHOX","SLC26A2","TMEM67","TRPV4","WNT7A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FIBULAR_APLASIA":{"collection":"C5:HPO","systematicName":"M36120","pmid":"","exactSource":"HP:0002990","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002990","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FIBULAR_APLASIA","geneSymbols":["AMER1","BMPR1B","CPLANE1","FLNA","FLNB","GDF5","LMBR1","RBM8A","TBX15","WNT7A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_FIBULA_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M36121","pmid":"","exactSource":"HP:0002991","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002991","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_FIBULA_MORPHOLOGY","geneSymbols":["AFF3","AFF4","AMER1","ATP7A","ATR","BGN","BHLHA9","BMPR1B","CANT1","CCDC47","CEP120","CILK1","CLCN5","COG4","COL11A1","COL11A2","COL2A1","CPLANE1","CYP27B1","CYP2R1","DDR2","DDRGK1","DYNC2H1","EIF4A3","EXT1","EXT2","FGFR2","FGFR3","FLNA","FLNB","FZD2","GDF5","GLI3","GPC6","GPX4","IFT122","IHH","INPPL1","INTU","LMBR1","MET","MTX2","NANS","NOTCH2","PAPPA2","PHEX","POR","PTH1R","RBM8A","SERPINH1","SF3B4","SHH","SHOX","SLC34A3","SLC35D1","SMOC1","SOX9","TAPT1","TBX15","VDR","WNT7A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_TIBIA_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M36122","pmid":"","exactSource":"HP:0002992","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002992","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_TIBIA_MORPHOLOGY","geneSymbols":["ACTB","ADGRV1","AIFM1","ALG12","ATP7A","BHLHA9","BMPR1B","CEP120","CHD7","CHEK2","CHST3","CILK1","CLCN5","CLTCL1","COL10A1","COL11A1","COL11A2","COL1A1","COL1A2","COL2A1","COL9A2","COL9A3","CPLANE1","CYP27A1","CYP27B1","CYP2R1","DDX6","DLK1","DMP1","DONSON","DYM","DYNC2H1","EIF4A3","EN1","ENPP1","EXT1","EXT2","FGFR3","FIBP","FLNA","FLNB","FN1","GABRA1","GABRD","GABRG2","GDF5","GLI3","GORAB","GPC6","HCN1","HPGD","HYLS1","IHH","INTU","LAMA5","LIFR","LMBR1","LMX1B","LRP5","MEG3","MMP13","NEK1","NF1","P3H1","PCDH19","PCNT","PCYT1A","PDGFRB","PHEX","PITX1","POR","PRR12","RB1","RBM8A","RMRP","RTL1","SATB2","SCN1A","SCN1B","SCN2A","SCN9A","SEMA3E","SERPINH1","SETBP1","SHH","SHOX","SLC26A2","SLC29A3","SLC31A1","SLC34A3","SLC35A2","SMOC1","SOX9","STX1B","TBXAS1","TCTN3","TGFB1","TP53","TRAPPC2","VDR","WNT7A","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LIMITED_ELBOW_MOVEMENT":{"collection":"C5:HPO","systematicName":"M36123","pmid":"","exactSource":"HP:0002996","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002996","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIMITED_ELBOW_MOVEMENT","geneSymbols":["ABCC9","ACTA1","ALDH18A1","ANO5","ASXL1","ATP7A","ATR","B3GAT3","B3GLCT","BANF1","BGN","BPNT2","CAPN3","CHST3","CLCF1","COL12A1","COL25A1","COL27A1","COL2A1","COL6A1","COL6A2","COL6A3","COL9A3","COLEC10","COLEC11","COMP","CPT2","CRLF1","CSGALNACT1","DDR2","DMD","DVL1","DYM","DYSF","ECEL1","EMD","ERCC1","ERCC6","ERGIC1","ERLIN2","ESCO2","EXTL3","EZH2","FBN1","FBN2","FBXO28","FDFT1","FGFR2","FGFR3","FHL1","FKBP10","FLNA","FLNB","FZD2","GJB2","GLDN","GNB1","GNB2","GNS","GPC6","HACD1","HDAC8","HOXA11","HRAS","HS2ST1","IFITM5","IL6ST","ITCH","ITGA7","JAG2","KCNK9","KIF22","KY","LAMA2","LARGE1","LBR","LGI4","LIFR","LMNA","LMX1B","LTBP3","MAP3K20","MAP3K7","MAPK1","MASP1","MATN3","MECOM","MED12","MET","MMP13","MYH3","MYL1","MYL11","MYL2","MYOT","NALCN","NIPBL","NPR2","OPA3","P4HTM","PCNT","PIGA","PIGY","PIK3C2A","PITX1","PLOD1","PLOD2","PLOD3","POR","PPP2R3C","PSMB8","PSTPIP1","PTDSS1","PTH1R","PTPN11","PYCR1","RAB33B","RECQL4","RMRP","RNU4ATAC","RSPO2","RSPRY1","SALL4","SCARF2","SCN4A","SCYL2","SELENON","SF3B4","SFRP4","SHOX","SLC25A46","SLC26A2","SLC29A3","SLC39A8","SLC6A9","SMAD6","SMC1A","SMC3","SNRPB","SPRED2","SPRTN","STAG1","STXBP1","SVIL","SYNE1","SYNE2","SYT2","TBX15","TBX3","TBX5","TDO2","TFAP2A","TFE3","TMEM222","TMEM43","TONSL","TOR1A","TPM2","TPM3","TRAPPC2","TRPV4","UBA1","UNC80","WNT5A","WNT7A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PATELLAR_DISLOCATION":{"collection":"C5:HPO","systematicName":"M36125","pmid":"","exactSource":"HP:0002999","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0002999","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PATELLAR_DISLOCATION","geneSymbols":["ARF1","ARFGEF2","ARVCF","BAZ1B","BCL7B","BPNT2","BUD23","CANT1","CHST11","CLIP2","COL1A1","COL5A1","COL5A2","COMT","CREBBP","CSGALNACT1","DNAJC30","EBP","EIF4H","ELN","EP300","ERMARD","EXOC6B","FBN2","FKBP6","FLNA","FLNB","FZD2","GDF5","GP1BB","GTF2I","GTF2IRD1","GTF2IRD2","HIRA","JMJD1C","KAT6B","LIMK1","LMX1B","MAB21L2","MAP1B","METTL27","MLXIPL","NCF1","NEDD4L","NOTCH2","OCRL","PIEZO2","PKDCC","PLOD1","PRKACB","RBM8A","RFC2","RNU4ATAC","RREB1","RYR1","SEC24C","SLC26A2","STX1A","STXBP1","TBL2","TBX1","TBX4","TMEM270","TMTC3","UFD1","VPS37D","XYLT1","YY1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_GLOMUS_JUGULAR_TUMOR":{"collection":"C5:HPO","systematicName":"M41270","pmid":"","exactSource":"HP:0003001","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003001","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GLOMUS_JUGULAR_TUMOR","geneSymbols":["NF1","SDHAF2","SDHB","SDHC","SDHD"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BREAST_CARCINOMA":{"collection":"C5:HPO","systematicName":"M36126","pmid":"","exactSource":"HP:0003002","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003002","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BREAST_CARCINOMA","geneSymbols":["AAGAB","AKT1","APC","ATM","ATR","AXIN2","BARD1","BRCA1","BRCA2","BRIP1","CASP8","CDH1","CDKN2A","CHEK2","COL14A1","CTNNB1","ERBB2","ESR1","FGFR2","GNAS","HMMR","IDH1","IDH2","KLLN","KRAS","MDM2","MEFV","MLH1","MRE11","MSH2","MSH6","NBN","NF1","NQO2","NTHL1","OPCML","PALB2","PALLD","PHB1","PIK3CA","POLD1","POLE","PPM1D","PRKN","PTEN","RABL3","RAD50","RAD51","RAD51C","RAD51D","RAD54L","RB1CC1","RNF43","SDHB","SDHC","SDHD","SEC23B","SLC22A18","SLC6A17","SMAD4","STK11","TP53","TWIST1","USF3","WRN","XRCC3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_COLON_CANCER":{"collection":"C5:HPO","systematicName":"M36127","pmid":"","exactSource":"HP:0003003","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003003","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_COLON_CANCER","geneSymbols":["APC","AXIN2","BMPR1A","BRCA1","BRCA2","BUB1","BUB1B","BUB3","C1S","CDKN2A","CEP57","CHEK2","EPCAM","FAN1","FLCN","FOXE1","GREM1","HABP2","KRAS","MBD4","MDM2","MINPP1","MLH1","MLH3","MSH2","MSH3","MSH6","MUTYH","NTHL1","PALB2","PALLD","PIK3CA","PMS1","PMS2","RABL3","RPS19","SH3KBP1","SMAD4","SMAD7","TGFBR2","TP53","TRIP13"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PROLONGED_BLEEDING_TIME":{"collection":"C5:HPO","systematicName":"M36129","pmid":"","exactSource":"HP:0003010","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003010","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROLONGED_BLEEDING_TIME","geneSymbols":["ADAMTS2","ADAMTSL2","AGGF1","AP3B1","BMS1","CALR","CD36","COL1A1","COL5A1","COL5A2","CREB3L1","DLL4","DTNBP1","F2","F5","GATA1","GATA2","GFI1B","GP1BA","GP1BB","GP6","GP9","HPS1","HPS5","HPS6","ITGA2B","ITGB3","ITGB4","JAK2","MAP2K2","MPL","MYH9","MYRF","NBEAL2","NF1","PLEC","RASGRP2","RIN2","RUNX1","SH2B3","SLC35A1","TEK","TET2","TP53","UBA2","VWF","WAS","WIPF1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FLARED_METAPHYSIS":{"collection":"C5:HPO","systematicName":"M36130","pmid":"","exactSource":"HP:0003015","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003015","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FLARED_METAPHYSIS","geneSymbols":["ALG9","ANKH","B3GALT6","B3GAT3","B4GALT7","CHST3","COG4","COL10A1","COL11A2","COL2A1","COMP","CYP3A4","DDR2","DDRGK1","EED","ERCC1","EZH2","FAM111A","FGFR3","FIG4","FLNA","GJA1","GSC","IARS2","KIF22","LBR","LIFR","MAP3K7","MMP13","NANS","NPR2","OSTM1","PCNT","PCYT1A","PEX7","POLR1A","PRKG2","PTDSS1","PTH1R","RMRP","RUNX2","SH3PXD2B","SLC39A13","TAPT1","TCIRG1","TONSL","TRPV4","VAC14","XYLT1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_METAPHYSEAL_WIDENING":{"collection":"C5:HPO","systematicName":"M36131","pmid":"","exactSource":"HP:0003016","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003016","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_METAPHYSEAL_WIDENING","geneSymbols":["ABCC9","ACAN","ACP5","ACVR1","AIFM1","ALG9","ANKH","ARCN1","ARSB","ATP7A","B3GALT6","B3GAT3","B4GALT7","BMPR1B","CANT1","CCN6","CHST3","COG4","COL10A1","COL11A1","COL11A2","COL2A1","COMP","CSF1R","CTNS","CYP3A4","DDR2","DDRGK1","DNAJC21","DYM","DYNC2H1","EED","EFL1","ERCC1","EXT1","EXT2","EZH2","FAM111A","FGFR3","FIG4","FLNA","GALNS","GJA1","GLB1","GNPTAB","GSC","HNRNPH1","HSPG2","IARS2","IDH1","IDUA","IL6ST","INPPL1","KIF22","LBR","LIFR","LRP5","MAP3K7","MATN3","MMP13","MMP2","MMP9","NANS","NPR2","NSMCE2","OSTM1","PCNT","PCYT1A","PEX7","PHEX","PITX1","PLCB3","POLR1A","PRKG2","PTDSS1","PTH1R","RMRP","RUNX2","SBDS","SFRP4","SH3PXD2B","SKI","SLC26A2","SLC35D1","SLC39A13","SRP54","TAPT1","TCIRG1","TONSL","TRIP11","TRPV4","VAC14","VPS33A","WDR19","XYLT1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_WRIST":{"collection":"C5:HPO","systematicName":"M36132","pmid":"","exactSource":"HP:0003019","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003019","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_WRIST","geneSymbols":["ABCC6","ADAMTSL2","ADGRG6","AEBP1","AIFM1","AKT1","ALDH18A1","ALG12","ANKRD55","ANO5","APC","ASAH1","ASXL1","ATP7A","B3GALT6","BGN","BHLHA9","BMPR1B","BPNT2","BPTF","CADM3","CANT1","CAPN3","CBFB","CCN6","CD247","CHST3","CHSY1","CLCN5","COG4","COL12A1","COL25A1","COL27A1","COL2A1","COL6A1","COL6A2","COL6A3","COL7A1","COLQ","COMP","CYP27B1","CYP2R1","DDR2","DHX16","DLK1","DMP1","DYM","DYNC2LI1","EBP","EIF2AK3","ENPP1","ERCC1","ERGIC1","ERLIN2","ESCO2","EVC","EVC2","EXOC6B","EXT1","EXT2","EXTL3","FBLN1","FBN2","FGFR2","FGFR3","FLNA","FLNB","GALNS","GDAP1","GDF5","GJA1","GLB1","GLI1","GNE","GNPTAB","GPC3","GPC4","HOXA13","HOXD13","HSPG2","IDH1","IHH","IL2RA","IL2RB","KIDINS220","KIF22","LAMB2","LEMD3","LMBR1","LMNA","LONP1","LRP4","LTBP3","MACROH2A1","MAFB","MAP3K7","MATN3","MBTPS1","MECP2","MEG3","MMP14","MMP2","MUSK","MYH3","MYL11","NALCN","NANS","NIN","NOG","NOTCH2","NXN","OCRL","OPA3","PAX3","PDE4D","PI4KA","PIEZO2","PIGV","PITX1","POR","PRG4","PRKACA","PRKACB","PSMD12","PTEN","PTH1R","PTPN2","PTPN22","RAC3","RBM8A","RECQL4","RMRP","ROR2","RSPRY1","RTL1","SALL4","SCYL2","SETD2","SHH","SHOX","SIK3","SLC10A7","SLC34A2","SLC34A3","SLC35B2","SLC35D1","SMOC1","SPG11","STAT4","TBX15","TBX3","TBX5","TNNI2","TNNT1","TNNT3","TONSL","TPM2","TRAPPC2","TRIP11","TRPV4","TUBB3","UFSP2","VDR","WNT7A","XRCC2","XYLT1","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ENLARGEMENT_OF_THE_WRISTS":{"collection":"C5:HPO","systematicName":"M36133","pmid":"","exactSource":"HP:0003020","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003020","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ENLARGEMENT_OF_THE_WRISTS","geneSymbols":["AIFM1","CLCN5","CYP27B1","CYP2R1","DMP1","ENPP1","SLC34A3","VDR"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_METAPHYSEAL_CUPPING":{"collection":"C5:HPO","systematicName":"M36134","pmid":"","exactSource":"HP:0003021","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003021","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_METAPHYSEAL_CUPPING","geneSymbols":["AIFM1","ALPL","COL10A1","COL11A2","COL2A1","CYP3A4","GPX4","HDAC6","IDH1","INPPL1","LBR","MMP13","NEPRO","PAM16","PCYT1A","PEX5","PTH1R","RMRP","TRIP11"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_METAPHYSEAL_IRREGULARITY":{"collection":"C5:HPO","systematicName":"M36135","pmid":"","exactSource":"HP:0003025","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003025","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_METAPHYSEAL_IRREGULARITY","geneSymbols":["ACP5","ARSB","BGN","CASR","CFAP410","CLCN5","COL10A1","COL2A1","COMP","CSPP1","CYP27B1","CYP2R1","DDRGK1","DNAJC21","DYM","EFL1","EXOC6B","FGFR3","FN1","GPX4","IARS2","IDH1","KIAA0586","KIF22","LBR","LPIN2","MATN3","MMP13","MMP9","NANS","NKX3-2","PCYT1A","PEX5","PHEX","PRKG2","PTH1R","QRICH1","RAB33B","RMRP","RPL13","RSPRY1","SBDS","SIK3","SLC17A5","SLC34A3","SLC35D1","SRP54","TONSL","TRPV4","VDR"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SHORT_LONG_BONE":{"collection":"C5:HPO","systematicName":"M36136","pmid":"","exactSource":"HP:0003026","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003026","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_LONG_BONE","geneSymbols":["ACVR1","ADAMTSL2","AFF3","AFF4","AGPS","ALG12","ALG9","AMER1","AMMECR1","ANAPC1","APC","ASXL2","ATP7A","ATR","B2M","B3GALT6","B3GLCT","BGN","BHLHA9","BMP2","BMPR1B","BPNT2","BRCA1","BRCA2","BRD4","BRIP1","CAMK2A","CANT1","CCDC8","CCNQ","CD96","CDC42BPB","CEP120","CHD7","CHN1","CHST3","CHSY1","COG1","COG4","COL10A1","COL11A1","COL11A2","COL2A1","COL9A3","COMP","CPLANE1","CREB3L1","CUL7","CWC27","DCHS1","DDR2","DDRGK1","DHODH","DLK1","DNMT3A","DONSON","DVL1","DYM","DYNC2H1","DYNC2I1","DYNC2I2","DYNC2LI1","EIF4A3","EP300","ERCC4","ESCO2","EVC","EVC2","EXOC6B","EXT1","EXT2","EXTL3","EZH2","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FAT4","FBN1","FBXL3","FERMT1","FGF10","FGF16","FGFR1","FGFR2","FGFR3","FIG4","FLNA","FLNB","FN1","FZD2","GDF5","GHR","GLB1","GLI3","GNAS","GNAS-AS1","GNPAT","GNPTAB","GPC6","GPX4","GSC","HDAC4","HDAC8","HEPHL1","HHAT","HINT1","HOXA13","HOXD13","HSPG2","HYLS1","IARS2","IFT122","IFT140","IFT172","IFT52","IFT80","IFT81","IHH","IL6ST","INPPL1","INTU","IQCE","JAG1","KCNJ2","KIAA0753","KNSTRN","LAMA5","LBR","LIFR","LMBR1","LONP1","LRP4","LTBP3","LZTFL1","MAD2L2","MAFB","MAP3K7","MATN3","MEG3","MET","MTHFS","MYSM1","NADSYN1","NEK1","NEK9","NEPRO","NHS","NIPBL","NOG","NPR2","OBSL1","P3H1","PALB2","PAM16","PCNT","PCYT1A","PDE3A","PDE4D","PEX5","PEX7","PHYH","PIGS","PIGT","PIK3CD","PLCB3","POC1A","POLR3A","POR","PORCN","PRKAR1A","PRKG2","PRMT7","PTCH1","PTH1R","PTHLH","PUF60","RAB33B","RAB3GAP2","RAD21","RAD51","RAD51C","RBM10","RBM8A","RBPJ","RECQL4","RFWD3","RIPK4","RMRP","RNU4ATAC","ROBO1","ROR2","RPL13","RPL26","RPS19","RPS6KA3","RSPRY1","RTL1","RUNX2","SALL1","SALL4","SCARF2","SCUBE3","SERPINH1","SETBP1","SF3B4","SH3PXD2B","SHH","SHOX","SIL1","SLC10A7","SLC26A2","SLC31A1","SLC35A2","SLC35B2","SLC35D1","SLC39A13","SLX4","SMAD4","SMARCA2","SMC1A","SMC3","SMOC1","SNRPB","SOX9","SRCAP","SRY","STX16","SUCLG1","SVBP","TAPT1","TBX15","TBX3","TBX4","TBX5","TCF4","TCTN3","TGDS","TMEM67","TNFRSF11A","TNFRSF11B","TONSL","TRIP11","TRPS1","TRPV4","TRPV6","TTC21B","TWIST2","UBE2T","VPS13B","VPS35L","WDR35","WNT5A","WNT7A","XRCC2","XYLT1","ZIC3","ZNF407","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MESOMELIA":{"collection":"C5:HPO","systematicName":"M36137","pmid":"","exactSource":"HP:0003027","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003027","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MESOMELIA","geneSymbols":["ACAN","AFF3","CREB3L1","CTSK","DHCR7","DONSON","DVL1","DVL3","EIF4A3","ESCO2","FGFR3","FLNA","GDF5","GLI3","GPC6","IFT80","KIF15","LBR","NEK1","NGLY1","NPR2","NXN","PRKG2","PTH1R","RAC1","RMRP","ROR2","SHOX","SIK3","TBX15","TONSL","TRIP11","WDR35","WNT5A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_ANKLE":{"collection":"C5:HPO","systematicName":"M36138","pmid":"","exactSource":"HP:0003028","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003028","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_ANKLE","geneSymbols":["AARS1","ABCD1","ACTA1","ADGRG1","ADGRV1","ALAD","ANGPT2","ANKRD55","ANO10","ANO5","APC2","ATL1","ATP5F1D","ATP6AP2","BAZ1B","BCL7B","BPTF","BUD23","C18orf32","C19orf12","CAPN1","CAPN3","CARS1","CCDC88C","CD247","CD40LG","CHMP1A","CLCN5","CLIP2","COL10A1","COL12A1","COL25A1","COL6A1","COL6A2","COL6A3","COL9A1","COL9A2","COL9A3","COMP","CYP27A1","CYP27B1","CYP2R1","CYP7B1","DAG1","DDR2","DNAJC30","DNMT3A","DPM1","DYM","DYRK1A","EIF4H","ELN","ERGIC1","ERLIN2","ESCO2","EXT1","EXT2","FA2H","FGF13","FIG4","FKBP10","FKBP6","FLNA","FLT4","GABRD","GABRG2","GALC","GBA2","GDF5","GFM2","GJC2","GLI3","GTF2I","GTF2IRD1","GTF2IRD2","HACD1","HCN1","HNRNPH1","HTT","IDH1","IL2RA","IL2RB","ITGA7","KIF1A","KIF1C","KIF5A","KLC2","KLHL9","KPNA3","LGI4","LIFR","LIMK1","LMNA","MAFB","MAN2B1","MAP3K20","MAP3K7","MARS1","METTL27","MFN2","MLXIPL","MMP2","MYL2","NCF1","NDUFS8","NEB","NFATC2","NIPA1","NOG","NONO","NSD1","NT5C2","NTRK1","OCA2","ORAI1","PEX16","PI4KA","PIEZO1","PIGT","PLA2G6","PNPT1","POU3F4","PSAP","PSAT1","PSMD12","PTPN2","PTPN22","PYCR2","RAB18","RAB3GAP2","REEP1","RETREG1","RFC2","RPL10","RTN2","RTTN","RYR1","SAMD9L","SCN1A","SCN1B","SCN2A","SCN9A","SCYL2","SELENOI","SELENON","SETD2","SGCA","SLC16A2","SLC1A4","SLC34A3","SLC39A14","SLC52A3","SMG9","SOD1","SPART","SPAST","SPG11","SPTBN2","SPTBN4","STAT4","STUB1","STX1A","STX1B","SVIL","SYNE1","SYT2","TBL2","TCEAL1","TIMM8A","TMEM270","TNNT1","TOR1AIP1","TPM2","TPM3","UBA1","UBE3A","UCHL1","VAC14","VARS1","VCP","VDR","VPS37D","WNK1","ZFYVE27","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ENLARGEMENT_OF_THE_ANKLES":{"collection":"C5:HPO","systematicName":"M36139","pmid":"","exactSource":"HP:0003029","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003029","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ENLARGEMENT_OF_THE_ANKLES","geneSymbols":["CLCN5","CYP27B1","CYP2R1","IDH1","SLC34A3","VDR"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ULNAR_BOWING":{"collection":"C5:HPO","systematicName":"M36140","pmid":"","exactSource":"HP:0003031","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003031","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ULNAR_BOWING","geneSymbols":["CHST3","COL11A1","FGFR2","FGFR3","FLNA","HOXA11","IFT43","LAMA5","MMP13","PCNT","POR","PRKG2","RBM8A","RECQL4","RIPK4","SCARF2","SHOX","SLC26A2","VPS35L"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DIAPHYSEAL_SCLEROSIS":{"collection":"C5:HPO","systematicName":"M36141","pmid":"","exactSource":"HP:0003034","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003034","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DIAPHYSEAL_SCLEROSIS","geneSymbols":["ANO5","CA2","CSF1R","GNAS","MTAP","SOST","STX16","TGFB1","TNFSF11"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ENLARGED_JOINTS":{"collection":"C5:HPO","systematicName":"M36142","pmid":"","exactSource":"HP:0003037","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003037","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ENLARGED_JOINTS","geneSymbols":["CCN6","CHST3","COL11A2","COL2A1","HOXD13","KAT6A","KIF7","LIFR","MATN3","RAB33B","SMARCA2","SRCAP","TRPV4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FIBULAR_HYPOPLASIA":{"collection":"C5:HPO","systematicName":"M36143","pmid":"","exactSource":"HP:0003038","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003038","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FIBULAR_HYPOPLASIA","geneSymbols":["AFF3","AFF4","AMER1","ATR","BHLHA9","BMPR1B","CEP120","COG4","COL11A1","DYNC2H1","EIF4A3","FLNA","FZD2","GDF5","GPC6","IFT122","INPPL1","INTU","MET","PTH1R","SF3B4","SHOX","SLC35D1","SMOC1","SOX9"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ARTHROPATHY":{"collection":"C5:HPO","systematicName":"M36144","pmid":"","exactSource":"HP:0003040","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003040","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ARTHROPATHY","geneSymbols":["ALPL","ANKH","ATL1","ATL3","BMP2","BMP6","CCN6","CD244","CHST3","CIITA","COL11A1","COL2A1","DMP1","DNASE2","ELP1","ENPP1","F8","HAMP","HFE","HGD","HJV","HPGD","IL10","IL36RN","IL6ST","MEFV","MMP14","MMP2","NFKBIL1","NGF","NLRP1","NLRP3","NOD2","NTRK1","PIK3CD","PRG4","PTPN22","SAMHD1","SLC22A4","SPTLC1","SPTLC2","STAT3","TNFAIP3","TNFRSF1A","TRPV4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_SHOULDER_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M36146","pmid":"","exactSource":"HP:0003043","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003043","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SHOULDER_MORPHOLOGY","geneSymbols":["ABCC6","AEBP1","ANKRD55","ARF1","ARFGEF2","ATP7A","B3GAT3","BAZ1B","BCL7B","BCOR","BUD23","CBFB","CCN6","CD247","CHD7","CHRNG","CHST3","CLIP2","COL12A1","COL1A1","COL1A2","COL5A1","COL5A2","CUL4B","DLK1","DNAJC30","DYM","EFNB1","EIF4H","ELN","ENPP1","ERMARD","EYA1","FIG4","FKBP6","FLNA","GABRA3","GDF3","GDF6","GNB2","GSC","GTF2I","GTF2IRD1","GTF2IRD2","HHAT","HSPG2","IL2RA","IL2RB","IRX5","JAG2","KY","LGI4","LIMK1","LMBRD2","LMNA","LMX1B","LYSET","MAP1B","MEG3","MEOX1","METTL27","MLXIPL","MYH3","MYL11","NAA10","NCF1","NEDD4L","NGLY1","ORC1","OTUD6B","PAX1","PIEZO2","PPP1R15B","PRNP","PTCH1","PTPN2","PTPN22","RBM8A","RFC2","RNU4ATAC","RTL1","RUNX2","SALL4","SCARF2","SCN4A","SPRTN","STAT4","STX1A","TBL2","TBX5","TMEM270","TMTC3","TNNT1","TRAPPC2","TRMT10A","TRPV4","VPS37D"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SHOULDER_FLEXION_CONTRACTURE":{"collection":"C5:HPO","systematicName":"M36147","pmid":"","exactSource":"HP:0003044","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003044","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHOULDER_FLEXION_CONTRACTURE","geneSymbols":["COL12A1","HSPG2","JAG2","KY","MYH3","MYL11","RNU4ATAC","SCN4A","TNNT1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_PATELLA_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M36148","pmid":"","exactSource":"HP:0003045","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003045","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PATELLA_MORPHOLOGY","geneSymbols":["ANAPC1","ARF1","ARFGEF2","ARID1B","ARVCF","BAZ1B","BCL7B","BHLHA9","BPNT2","BUD23","CANT1","CDC45","CDC6","CDT1","CHRNG","CHST11","CLIP2","COL12A1","COL1A1","COL2A1","COL5A1","COL5A2","COL9A1","COL9A2","COL9A3","COMT","CREBBP","CSGALNACT1","DNAJC30","DNMT3A","DONSON","EBP","EIF4H","ELN","EP300","ERMARD","ESCO2","EXOC6B","FBN2","FKBP10","FKBP6","FLNA","FLNB","FZD2","GDF5","GJB2","GJB6","GMNN","GP1BB","GTF2I","GTF2IRD1","GTF2IRD2","HIRA","JMJD1C","KAT6B","KIF22","LIMK1","LMBR1","LMX1B","MAB21L2","MAP1B","METTL27","MLXIPL","NCF1","NEDD4L","NLRP3","NOTCH2","OCRL","ORC1","ORC4","ORC6","PIEZO2","PITX1","PKDCC","PLOD1","PRKACB","PRMT7","RAB23","RBM8A","RECQL4","RFC2","RNU4ATAC","RREB1","RYR1","SEC24C","SHH","SHOX","SLC26A2","SOX9","STX1A","STXBP1","TBC1D7","TBL2","TBX1","TBX4","TMEM270","TMTC3","UBR7","UFD1","USP9X","VPS37D","WNT7A","XYLT1","YY1","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RADIAL_HEAD_SUBLUXATION":{"collection":"C5:HPO","systematicName":"M45405","pmid":"","exactSource":"HP:0003048","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003048","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RADIAL_HEAD_SUBLUXATION","geneSymbols":["B3GALT6","BPNT2","CHD7","DCHS1","GLI3","HNRNPH1","KIF22","XYLT1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ULNAR_DEVIATION_OF_THE_WRIST":{"collection":"C5:HPO","systematicName":"M36149","pmid":"","exactSource":"HP:0003049","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003049","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ULNAR_DEVIATION_OF_THE_WRIST","geneSymbols":["ALG12","ASAH1","ASXL1","COMP","DLK1","FLNB","GALNS","GLB1","KIDINS220","MEG3","MYH3","NALCN","PAX3","POR","RAC3","RTL1","SIK3","TNNI2","TNNT3","TPM2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ENLARGED_METAPHYSES":{"collection":"C5:HPO","systematicName":"M36150","pmid":"","exactSource":"HP:0003051","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003051","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ENLARGED_METAPHYSES","geneSymbols":["B3GAT3","CHST3","COL2A1","EXTL3","RNU4ATAC","RPL13","TRAPPC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_HUMERUS":{"collection":"C5:HPO","systematicName":"M36151","pmid":"","exactSource":"HP:0003063","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003063","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_HUMERUS","geneSymbols":["AGPS","ALG12","ATP7A","B3GALT6","BMP1","COL2A1","CREB3L1","CYP26B1","DONSON","DYM","ESCO2","EZH2","FANCB","FGF9","FGFR1","FGFR2","FLNA","FLNB","FZD2","GDF5","GNAS","GNPAT","GNPTAB","GPC6","GSC","IFT122","IHH","KIAA0753","LAMA5","LBR","LMBR1","LONP1","LYSET","MACROH2A1","MTHFS","MYSM1","NOG","PEX5","PITX1","POLR3A","POR","PRKG2","PTDSS1","RBM8A","RECQL4","RNU4ATAC","RSPO2","SALL4","SHOX","SLC26A2","SNRPB","SPARC","SRCAP","STX16","SUCLG1","TBX15","TBX3","TBX5","TGDS","TGFB1","TNFRSF11B","TONSL","TRPV4","WNT7A","ZIC3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PATELLAR_HYPOPLASIA":{"collection":"C5:HPO","systematicName":"M36152","pmid":"","exactSource":"HP:0003065","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003065","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PATELLAR_HYPOPLASIA","geneSymbols":["ANAPC1","DONSON","GJB2","GJB6","LMX1B","ORC6","PITX1","PRMT7","RECQL4","SOX9","STXBP1","TBX4","UBR7","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LIMITED_KNEE_EXTENSION":{"collection":"C5:HPO","systematicName":"M36153","pmid":"","exactSource":"HP:0003066","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003066","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIMITED_KNEE_EXTENSION","geneSymbols":["ADGRV1","ATP7A","COL9A3","CSGALNACT1","DPYSL5","DYM","EZH2","FBN2","GABRA1","GABRD","GABRG2","GPC6","HCN1","PCDH19","SCN1A","SCN1B","SCN2A","SCN9A","STX1B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MADELUNG_DEFORMITY":{"collection":"C5:HPO","systematicName":"M47068","pmid":"","exactSource":"HP:0003067","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003067","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MADELUNG_DEFORMITY","geneSymbols":["COG4","GDF5","GJA1","NIN","SHOX"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ELBOW_ANKYLOSIS":{"collection":"C5:HPO","systematicName":"M36155","pmid":"","exactSource":"HP:0003070","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003070","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELBOW_ANKYLOSIS","geneSymbols":["FGFR1","FGFR2","GDF5","MUSK","NOG","POR","PTDSS1","WNT7A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FLATTENED_EPIPHYSIS":{"collection":"C5:HPO","systematicName":"M36156","pmid":"","exactSource":"HP:0003071","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003071","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FLATTENED_EPIPHYSIS","geneSymbols":["ACAN","AIFM1","CANT1","CCN6","CHST3","COL2A1","COL9A1","COL9A2","EIF2AK3","GNPTG","IFT122","KIF22","KIF7","MMP13","PTH1R","RAB33B","SLC10A7","SLC26A2","SLC39A13","TBX4","TONSL","TRPS1","TRPV4","UFSP2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPERCALCEMIA":{"collection":"C5:HPO","systematicName":"M36157","pmid":"","exactSource":"HP:0003072","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003072","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERCALCEMIA","geneSymbols":["ALPL","AP2S1","APC2","BAZ1B","BCL7B","BTNL2","BUD23","CASR","CCND1","CDC73","CDKN1A","CDKN1B","CDKN1C","CDKN2B","CDKN2C","CLIP2","CYP24A1","DLST","DNAJC30","DNMT3A","EIF4H","ELN","EPAS1","FH","FKBP6","GALNT3","GCM2","GNA11","GTF2I","GTF2IRD1","GTF2IRD2","HLA-DRB1","KIF1B","KL","LDHA","LIMK1","MAX","MDH2","MEN1","METTL27","MLXIPL","NCF1","NF1","NOTCH3","NSD1","PDGFRB","PIGT","PIK3C2A","PTH1R","RET","RFC2","SDHA","SDHAF2","SDHB","SDHC","SDHD","SETD2","SLC12A1","SLC25A11","SLC34A1","SLC5A1","STX1A","TBL2","TMEM127","TMEM270","TNFRSF11A","TRIO","VHL","VPS37D"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPERGLYCEMIA":{"collection":"C5:HPO","systematicName":"M36158","pmid":"","exactSource":"HP:0003074","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003074","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERGLYCEMIA","geneSymbols":["ABCC8","ACAT1","AFF4","APPL1","ARMC5","BBS9","BCS1L","BLK","BMP6","CACNA1S","CEL","CYC1","DYRK1B","ENPP1","GABRA3","GATA6","GCK","GLI3","GYS2","HFE","HNF1A","HNF4A","HYMAI","IL6","INS","INSR","ITPR3","KCNE3","KCNJ11","KCNJ18","KHK","KLF11","LMNA","LRPPRC","NARS2","NEUROD1","PAX4","PDX1","PIK3R1","PLAGL1","PPARG","PRORP","PTF1A","PTPN22","RFX6","RIMS2","SCN4A","SH2B1","SHPK","SLC2A2","SLC5A2","STAT3","TFG","ZFP57","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPOPROTEINEMIA":{"collection":"C5:HPO","systematicName":"M36159","pmid":"","exactSource":"HP:0003075","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003075","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPROTEINEMIA","geneSymbols":["ACADVL","ALB","B2M","CD55","DCLRE1C","DPAGT1","FOCAD","LAMB2","LYST","NOS1AP","NPHS1","PRF1","RAG1","RAG2","RBCK1","SLC25A13","TMPRSS15","UBR1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_GLYCOSURIA":{"collection":"C5:HPO","systematicName":"M36160","pmid":"","exactSource":"HP:0003076","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003076","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GLYCOSURIA","geneSymbols":["ABCC8","ALDOB","APPL1","ATP7B","BLK","CEL","CLCN5","COA8","CTNS","EHHADH","ETFA","ETFB","ETFDH","FAN1","GATA6","GATM","GCK","GYS2","HNF1A","HNF1B","HNF4A","INS","KCNJ11","KLF11","LMNA","MT-TN","MT-TS1","NDUFAF6","NEUROD1","NSMCE2","PAX2","PAX4","PBX1","PDX1","PIGA","RRM2B","SLC16A12","SLC2A2","SLC34A1","SLC5A1","SLC5A2","STAT3","SURF1","TRMT5","VIPAS39"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPERLIPIDEMIA":{"collection":"C5:HPO","systematicName":"M36161","pmid":"","exactSource":"HP:0003077","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003077","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERLIPIDEMIA","geneSymbols":["ABCA1","ABCG5","ABCG8","ABHD5","ACTN4","ADCY3","AEBP1","AGL","AGPAT2","AKT2","ALB","ALMS1","APOA5","APOB","APOC2","APOE","ARMC5","BSCL2","CAV1","CAVIN1","CELA2A","CEP19","CETP","CFH","CFHR1","CFHR3","CIDEC","CPT1A","CPT2","CREB3L3","CYP19A1","CYP7A1","DCAF17","DEAF1","DEF6","DGAT1","DYRK1B","EMD","FARSA","FECH","FHL1","FLII","FOS","G6PC1","GK","GLA","GNAS","GPD1","GPIHBP1","GYS2","HAVCR2","IQSEC2","JAG1","LCAT","LDLR","LDLRAP1","LEP","LEPR","LIPA","LIPC","LIPE","LMAN1","LMF1","LMNA","LPL","LRP6","LYST","MC4R","MCFD2","MCM10","MTX2","MYO5A","NPHS1","NPHS2","NSMCE2","PCSK9","PHKA2","PHKB","PHKG2","PIGH","PIGT","PIK3CG","PLIN1","PLVAP","PNPLA2","POLD1","POLR3A","PPARG","PRF1","PSMB10","PSMB4","PSMB8","PSMB9","PYGL","RAB27A","RAI1","RSPO1","SAR1B","SGPL1","SH2B1","SLC25A13","SLC29A3","SLC2A2","SLC37A4","SLC7A7","SMARCAL1","SMPD1","STX11","STXBP2","SYNE1","SYNE2","TFG","TMEM43","TNFRSF9","TTPA","UNC13D","WRN","XIAP","XRCC4","YARS1","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DEFECTIVE_DNA_REPAIR_AFTER_ULTRAVIOLET_RADIATION_DAMAGE":{"collection":"C5:HPO","systematicName":"M36162","pmid":"","exactSource":"HP:0003079","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003079","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEFECTIVE_DNA_REPAIR_AFTER_ULTRAVIOLET_RADIATION_DAMAGE","geneSymbols":["AARS1","CARS1","DDB2","ERCC2","ERCC3","ERCC4","ERCC5","ERCC6","GTF2E2","GTF2H5","MPLKIP","RNF113A","TARS1","XPA","XPC"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYDROXYPROLINURIA":{"collection":"C5:HPO","systematicName":"M41271","pmid":"","exactSource":"HP:0003080","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003080","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYDROXYPROLINURIA","geneSymbols":["ALDH4A1","PLOD2","PRODH","SLC36A2","SLC6A18","SLC6A19","SLC6A20","TNFRSF11A","TNFRSF11B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INCREASED_URINARY_POTASSIUM":{"collection":"C5:HPO","systematicName":"M41272","pmid":"","exactSource":"HP:0003081","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003081","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_URINARY_POTASSIUM","geneSymbols":["BSND","CLCNKA","CLCNKB","EHHADH","GATM","KCNJ1","NDUFAF6","SLC12A1","SLC34A1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FRACTURES_OF_THE_LONG_BONES":{"collection":"C5:HPO","systematicName":"M36163","pmid":"","exactSource":"HP:0003084","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003084","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FRACTURES_OF_THE_LONG_BONES","geneSymbols":["CLCN7","LBR","MTAP","SQSTM1","TAPT1","TBCD","TNFRSF11A","TRPV6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ACROMESOMELIA":{"collection":"C5:HPO","systematicName":"M36164","pmid":"","exactSource":"HP:0003086","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003086","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACROMESOMELIA","geneSymbols":["GDF5","KIF15","NGLY1","NPR2","RAC1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PREMATURE_OSTEOARTHRITIS":{"collection":"C5:HPO","systematicName":"M43282","pmid":"","exactSource":"HP:0003088","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003088","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PREMATURE_OSTEOARTHRITIS","geneSymbols":["ACAN","COL11A2","COL1A1","DDRGK1","FBN1","KIF22","MATN3","SLC26A2","TRAPPC2","TRPV4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HAMSTRING_CONTRACTURES":{"collection":"C5:HPO","systematicName":"M36165","pmid":"","exactSource":"HP:0003089","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003089","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HAMSTRING_CONTRACTURES","geneSymbols":["ABCD1","ACTA1","ANO5","CAPN3","DMD","FHL1","LMNA","OPA1","SELENON"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LIMITED_HIP_EXTENSION":{"collection":"C5:HPO","systematicName":"M43283","pmid":"","exactSource":"HP:0003093","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003093","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIMITED_HIP_EXTENSION","geneSymbols":["CHST3","COMP","DST","FGFR3","KY"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SEPTIC_ARTHRITIS":{"collection":"C5:HPO","systematicName":"M43284","pmid":"","exactSource":"HP:0003095","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003095","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEPTIC_ARTHRITIS","geneSymbols":["BTK","C2orf69","CFI","MTHFD1","MYD88","NGF","NTRK1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SHORT_FEMUR":{"collection":"C5:HPO","systematicName":"M36166","pmid":"","exactSource":"HP:0003097","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003097","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_FEMUR","geneSymbols":["AGPS","ALG12","AMMECR1","BHLHA9","CAMK2A","COL11A1","COL2A1","CPLANE1","FGFR3","FLNB","GDF5","IHH","MTHFS","POLR3A","PUF60","RNU4ATAC","SALL4","SERPINH1","SLC26A2","SLC31A1","SUCLG1","TAPT1","TBX15","TBX4","TGDS","TNFRSF11A","TRPV6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SLENDER_LONG_BONE":{"collection":"C5:HPO","systematicName":"M36167","pmid":"","exactSource":"HP:0003100","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003100","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SLENDER_LONG_BONE","geneSymbols":["ATP6V0A2","B3GALT6","BRF1","CCDC134","CCDC8","CDC45","CDC6","CDT1","COL1A1","COL1A2","CUL7","ERCC1","FAM111A","FDFT1","FIG4","GLE1","GMNN","HARS1","HNRNPH1","ITCH","KCNJ2","LARP7","MAFB","MGAT2","MUSK","NFIX","NSMCE2","OBSL1","ORC1","ORC4","ORC6","P3H1","PCNT","PDGFRB","PIGT","PIGU","PIK3R1","POLR3A","PPP3CA","RAB3GAP2","RSPRY1","SCARF2","SCN4A","SON","TBCE","VAC14"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CORTICAL_BONE_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M36168","pmid":"","exactSource":"HP:0003103","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003103","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CORTICAL_BONE_MORPHOLOGY","geneSymbols":["ADAMTS10","AGA","AKT1","ANKLE2","ANO5","ASPM","CCDC134","CDK5RAP2","CDK6","CENPE","CENPJ","CEP135","CEP152","CEP63","CIT","CLCN5","CLCN7","COL1A1","COPB2","CYP27B1","CYP2R1","DMP1","ENPP1","FAM111A","FARSB","FBN1","FLNA","GJA1","GLB1","GLE1","HPGD","IL6ST","KIF14","KIF1A","KNL1","LEMD3","LIFR","LRP4","LRP5","MAN2B1","MCM7","MCPH1","METTL5","MFSD2A","MMP2","NCAPD3","NF1","NSDHL","NUP37","PEX19","PHC1","PLEKHM1","PRKG2","PTDSS1","PTH1R","PYCR2","RETREG1","SARS1","SASS6","SCN9A","SERPINH1","SETBP1","SFRP4","SH3PXD2B","SLC34A3","SLC4A2","SLCO2A1","SMS","SOST","STIL","TAF13","TBCE","TBXAS1","TCIRG1","TENT5A","TGFB1","TMEM53","TNFRSF11A","TRAPPC10","TRAPPC14","TRIM37","TRPV4","VDR","WARS1","WDR62","WNK1","XYLT2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CIRCULATING_CHOLESTEROL_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M36169","pmid":"","exactSource":"HP:0003107","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003107","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_CHOLESTEROL_CONCENTRATION","geneSymbols":["ABCA1","ABCA2","ABCB4","ABCG5","ABCG8","AGPAT2","ALB","ALG12","ALG6","ALMS1","ANGPTL3","APOA1","APOA2","APOA5","APOB","APOC2","APOC3","APOE","APTX","ATAD3A","ATP6AP1","B4GALT1","BSCL2","CAV1","CAV3","CAVIN1","CCDC115","CELA2A","CEP19","CETP","COG4","CREB3L3","CYP11A1","CYP27A1","CYP7A1","CYP7B1","DEAF1","DGAT1","DHCR24","DHCR7","DIO1","DLK1","DYRK1B","EBP","EMD","EPHX2","FDFT1","FHL1","FLCN","FLII","FOS","GALK1","GALNT2","GHR","GPIHBP1","HSD3B7","HTT","IFT172","IQSEC2","JAG1","KIF12","LCAT","LDLR","LDLRAP1","LIPA","LIPC","LMNA","LPL","LRP6","MEF2A","MEG3","MSMO1","MTTP","MYO5B","NGLY1","NSDHL","NUP107","OCRL","PANK2","PCSK9","PEX12","PHKA2","PHKB","PHKG2","PIK3R5","PMM2","PNKP","PNLIP","PPARG","PPP1R17","PSAP","PSMB8","PYGL","RAI1","RSPO1","RTL1","SAR1B","SC5D","SETX","SLC25A13","SLC25A36","SLC2A3","SLC37A4","SLC7A7","SMPD1","SYNE1","SYNE2","TBL1X","TDP1","TMEM199","TMEM43","TSHB","TTC26","TTPA","UBE3B","UBR1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPERGLYCINURIA":{"collection":"C5:HPO","systematicName":"M47069","pmid":"","exactSource":"HP:0003108","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003108","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERGLYCINURIA","geneSymbols":["ACADM","ALDH4A1","AMT","GLDC","GLYCTK","IVD","MCCC2","NFU1","PCCA","PCCB","PRODH","SLC36A2","SLC6A18","SLC6A19","SLC6A20"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_URINE_HOMEOSTASIS":{"collection":"C5:HPO","systematicName":"M36171","pmid":"","exactSource":"HP:0003110","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003110","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_URINE_HOMEOSTASIS","geneSymbols":["AASS","ABCC2","ABCC6","ABCC8","ABCD4","ACAD8","ACAD9","ACADM","ACADS","ACADSB","ACADVL","ACAT1","ACP5","ACSF3","ACSL4","ACTN4","ACVR1B","ACVRL1","ADAMTS13","ADCY10","AGA","AGGF1","AGK","AGXT","AGXT2","AKR1D1","ALAD","ALDH4A1","ALDH5A1","ALDH6A1","ALDOA","ALDOB","ALG5","ALG9","ALK","ALPL","AMMECR1","AMN","AMT","ANKFY1","ANLN","ANO5","AP2S1","APC","APOA1","APOE","APOL1","APPL1","APRT","AQP2","ARG1","ARHGAP24","ARHGDIA","ARNT2","ARSB","ARSK","ASL","ASPA","ASPH","ASS1","ATAD3A","ATIC","ATP11C","ATP1A1","ATP5F1A","ATP5F1D","ATP5F1E","ATP5MK","ATP6V0A4","ATP6V1B2","ATP7B","ATPAF1","ATPAF2","AUH","AVPR2","B2M","BANK1","BAZ1B","BCKDHA","BCKDHB","BCL7B","BCOR","BCS1L","BICC1","BLK","BLVRA","BRCA2","BSND","BTD","BTNL2","BUD23","C3","C4A","C4B","CA5A","CACNA1S","CAD","CAMKMT","CASK","CASP10","CASR","CBS","CCND1","CD109","CD2AP","CD320","CD46","CD59","CD81","CDC73","CDKN1A","CDKN1B","CDKN1C","CDKN2A","CDKN2B","CDKN2C","CEL","CFB","CFH","CFHR5","CFI","CFTR","CHUK","CLCN5","CLCNKA","CLCNKB","CLDN10","CLDN16","CLDN19","CLEC7A","CLIP2","CLPB","CLTRN","COA8","COL2A1","COL4A1","COL4A3","COL4A4","COL4A5","COL4A6","COQ2","COQ6","COQ8B","CORIN","COX14","COX16","CPOX","CPS1","CPT1A","CPT2","CR2","CRB2","CRPPA","CTH","CTLA4","CTNNB1","CTNS","CUBN","CYC1","CYP11A1","CYP11B1","CYP11B2","CYP21A2","CYP24A1","CYP27B1","CYP2R1","D2HGDH","DAAM2","DBH","DBT","DCDC2","DCXR","DDB2","DDOST","DGKE","DGUOK","DHTKD1","DIS3L2","DLD","DLST","DMD","DMGDH","DMP1","DNAJB11","DNAJC19","DNAJC30","DNASE1","DNASE1L3","DNASE2","DNMT3A","DPH1","DPYD","DPYS","EHHADH","EIF4H","ELN","EMP2","ENG","ENPP1","EPAS1","ERBB2","ERCC2","ERCC3","ERCC4","ERCC5","ERCC6","ERCC8","ETFA","ETFB","ETFDH","ETHE1","ETS1","EXT2","F10","F2","F5","F8","FAH","FAM20A","FAN1","FARS2","FBP1","FCGR2A","FCGR2B","FCGR3B","FDX2","FGA","FGF23","FGFR2","FH","FIP1L1","FKBP6","FKRP","FLAD1","FLT1","FMO3","FN1","FOCAD","FOXC2","FOXP2","FTCD","FUCA1","FXYD2","G6PC1","G6PD","GAA","GABRA3","GALE","GALK1","GALNS","GALT","GANAB","GAPVD1","GATA1","GATA3","GATA6","GATM","GBA1","GCDH","GCK","GCLC","GCM2","GDF2","GEMIN4","GGT1","GK","GLA","GLB1","GLDC","GLUD1","GLYCTK","GNA11","GNAS","GNAS-AS1","GNE","GNPTAB","GNPTG","GNS","GON7","GP1BA","GP1BB","GP9","GPC3","GPHN","GRHPR","GSN","GSS","GTF2I","GTF2IRD1","GTF2IRD2","GUCY2D","GUSB","GYS2","H19","HACE1","HADH","HADHA","HADHB","HAL","HBB","HCFC1","HELLPAR","HGD","HGSNAT","HIBCH","HLA-B","HLA-DPA1","HLA-DPB1","HLA-DRB1","HLCS","HMBS","HMGCL","HMOX1","HNF1A","HNF1B","HNF4A","HOGA1","HPD","HPRT1","HRAS","HSD11B2","HSD17B10","HSD3B2","HSPD1","HTRA2","IBA57","IDH1","IDH2","IDS","IDUA","IER3IP1","IFT122","IFT140","IFT172","IGHG1","IL10","IL17F","IL17RA","IL17RC","IL1B","IL1RN","INF2","INPPL1","INS","INSR","IRAK1","IRF1","IRF2BP2","IRF5","ISCU","ITGA2","ITGA2B","ITGA3","ITGA6","ITGA8","ITGAM","ITGB3","ITGB4","IVD","JAZF1","KANK2","KARS1","KCNE5","KCNJ1","KCNJ10","KCNJ11","KCNJ16","KCNJ18","KCNJ5","KHK","KIAA0319L","KIF1B","KIF23","KIRREL1","KLF11","KLF6","KRAS","KRT18","KYNU","L2HGDH","LAGE3","LAMB2","LARS2","LCAT","LDHA","LDHD","LETM1","LIMK1","LIN28B","LIPT1","LMAN1","LMBRD1","LMNA","LMNB2","LMO1","LMX1B","LPIN1","LPIN2","LRP2","LRPPRC","LYRM4","LYZ","MAF","MAFB","MAGED2","MAGI2","MAN2B1","MANBA","MARS1","MAX","MC2R","MCCC1","MCCC2","MCEE","MCFD2","MDH2","MECP2","MED12","MEFV","MEN1","METTL27","MIA3","MICOS13","MLIP","MLXIPL","MLYCD","MMAA","MMAB","MMACHC","MMADHC","MMUT","MOCOS","MOCS1","MOCS2","MPC1","MRAP","MRPS2","MT-ATP6","MT-ATP8","MT-CO1","MT-CO2","MT-CO3","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND5","MT-ND6","MT-TE","MT-TF","MT-TH","MT-TK","MT-TL1","MT-TN","MT-TQ","MT-TS1","MT-TS2","MT-TV","MT-TW","MTHFR","MTR","MTRR","MTX2","MUC1","MUTYH","MVK","MYCN","MYH9","MYO1E","NABP1","NADK2","NAGA","NAGLU","NCF1","NDUFA9","NDUFAF6","NDUFB10","NDUFS4","NEU1","NEUROD1","NF1","NFS1","NFU1","NGLY1","NHERF1","NIPBL","NNT","NOS1AP","NOS3","NOTCH2","NPHP1","NPHP3","NPHS1","NPHS2","NPM1","NPR2","NR0B1","NRAS","NSMCE2","NT5C3A","NUMA1","NUP107","NUP133","NUP160","NUP205","NUP37","NUP85","NUP93","OAT","OBSCN","OCRL","OFD1","OGDH","OPA3","OPLAH","OSGEP","OTC","OXCT1","OXGR1","P4HA2","PAH","PAX2","PAX4","PBX1","PCBD1","PCCA","PCCB","PCK1","PDCD1","PDP1","PDSS2","PDX1","PEPD","PET100","PET117","PEX1","PEX14","PEX5","PFKM","PGAM2","PGK1","PGM2L1","PHEX","PHKA1","PHKA2","PHKB","PHKG2","PHOX2B","PHYKPL","PIEZO1","PIGA","PIGB","PIGT","PIK3C2A","PIK3CA","PKD1","PKD2","PLCE1","PLOD1","PLOD2","PML","PMM2","PNP","POLG","POLRMT","POU6F2","PPM1B","PPOX","PRDX1","PREPL","PRKAR1A","PRODH","PRPS1","PRTN3","PSTPIP1","PTH1R","PTPN22","PTPRO","PUS3","PXK","PYGL","PYGM","RARA","REN","REST","RET","RFC2","RMRP","RNU7-1","RPIA","RRM2B","RYR1","SAA1","SARDH","SARS2","SAT1","SCARB2","SCNN1A","SCO1","SDHA","SDHAF2","SDHB","SDHC","SDHD","SERAC1","SERPINA6","SERPINF2","SFXN4","SGCB","SGPL1","SGSH","SH2B1","SHPK","SKIC3","SLC12A1","SLC12A3","SLC13A3","SLC16A1","SLC16A12","SLC18A2","SLC19A2","SLC1A1","SLC22A12","SLC22A5","SLC25A1","SLC25A11","SLC25A13","SLC25A15","SLC25A19","SLC25A20","SLC25A21","SLC25A4","SLC26A1","SLC28A1","SLC2A2","SLC2A9","SLC34A1","SLC34A2","SLC34A3","SLC35A1","SLC36A2","SLC37A4","SLC3A1","SLC52A1","SLC52A2","SLC5A1","SLC5A2","SLC6A18","SLC6A19","SLC6A2","SLC6A20","SLC7A7","SLC7A9","SLCO1B1","SLCO1B3","SLCO2A1","SMAD4","SMARCAL1","SNAP29","SNX14","SPINK5","SPP1","SPRY2","SPTBN1","SREBF1","STAR","STAT2","STAT3","STAT4","STAT5B","STIM1","STK11","STOX1","STX16","STX1A","SUCLA2","SUCLG1","SUGCT","SUMF1","SUOX","SURF1","TAFAZZIN","TANGO2","TAT","TBC1D24","TBC1D8B","TBL1XR1","TBL2","TCN2","TDO2","TERT","TFAM","TGFB1","THBD","TIMM50","TK2","TKT","TLR7","TMEM126B","TMEM127","TMEM270","TMEM67","TMEM70","TNFAIP3","TNFRSF11A","TNFRSF11B","TNFSF4","TNIP1","TOP2A","TP53","TP53RK","TPK1","TPRKB","TRAF3IP2","TREX1","TRIM28","TRIM8","TRIP13","TRMT5","TRMU","TRNT1","TRPC6","TRPV4","TRPV6","TSC1","TSC2","TTC26","TXNRD2","UBE2L3","UMPS","UNC45A","UQCRB","UROC1","UROD","UROS","VHL","VIPAS39","VPS33A","VPS33B","VPS37D","VPS50","WDR19","WDR4","WDR73","WT1","XDH","XPA","XPC","YAP1","YRDC","ZAP70","ZBTB16","ZNRF3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_BLOOD_ION_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M36172","pmid":"","exactSource":"HP:0003111","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003111","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BLOOD_ION_CONCENTRATION","geneSymbols":["ABCB6","ABCC6","ABCD3","ACADVL","ADAMTS3","ADCY10","AIP","AKAP9","ALAD","ALAS2","ALDOA","ALDOB","ALG12","ALG8","ALPL","ANK2","AP1B1","AP1S1","AP1S3","AP2S1","APC2","AQP2","ARNT2","ARVCF","ATIC","ATP1A1","ATP6AP1","ATP6V0A2","ATP6V0A4","ATP7A","ATP7B","AVPR2","BAZ1B","BCL7B","BCS1L","BMP2","BMP6","BMPR1A","BSND","BTK","BTNL2","BUD23","CA12","CA2","CA5A","CACNA1C","CACNA1D","CACNA1S","CALM1","CALM2","CALM3","CAMKMT","CARD9","CASR","CAV1","CAV3","CCBE1","CCDC134","CCND1","CDC73","CDH23","CDKN1A","CDKN1B","CDKN1C","CDKN2A","CDKN2B","CDKN2C","CHD7","CLCN2","CLCN5","CLCN7","CLCNKA","CLCNKB","CLDN10","CLDN16","CLDN19","CLIP2","CNNM2","COG2","COL3A1","COL4A3","COL7A1","COMT","CP","CPOX","CSF1R","CTNNB1","CTNS","CUL3","CYP11A1","CYP11B1","CYP11B2","CYP17A1","CYP24A1","CYP27B1","CYP2R1","CYP3A4","DBH","DEF6","DGCR2","DGCR6","DGCR8","DLST","DMP1","DNAJC30","DNMT3A","DSG1","DZIP1L","EGF","EHHADH","EIF2AK3","EIF4H","ELN","ELP1","ENPP1","EPAS1","ESS2","FAH","FAM111A","FAM20C","FARSB","FAT4","FGF23","FGFR1","FH","FKBP6","FOCAD","FOXP1","FOXP3","FTH1","FTL","FXYD2","GABRA3","GALNT3","GATA3","GATM","GCM2","GEMIN4","GNA11","GNAS","GNAS-AS1","GNB2","GP1BB","GTF2I","GTF2IRD1","GTF2IRD2","HADHA","HADHB","HAMP","HBB","HFE","HIRA","HJV","HLA-DQA1","HLA-DQB1","HLA-DRB1","HMBS","HNF4A","HRAS","HSD11B2","HSD3B2","IARS1","IFT122","IL36RN","INPPL1","INSR","INVS","IRF4","JMJD1C","KCNE1","KCNE2","KCNE3","KCNH2","KCNJ1","KCNJ10","KCNJ18","KCNJ2","KCNJ5","KCNN4","KCNQ1","KIF1B","KIF23","KL","KLHL3","KRAS","LAMA3","LAMB3","LAMC2","LDHA","LIMK1","LPIN1","LYST","MAGED2","MAX","MC2R","MDH2","MEN1","METTL27","MLXIPL","MMP1","MRAP","MT-CO1","MT-CO3","NAB2","NCF1","NDUFAF6","NDUFB8","NF1","NFKB2","NHERF1","NNT","NOS1AP","NOTCH3","NR0B1","NR3C1","NR3C2","NRAS","NSD1","NUP214","OBSCN","OCRL","ORAI1","OSTM1","PAX2","PBX1","PCBD1","PDGFB","PDGFRB","PHEX","PIEZO1","PIGA","PIGT","PIK3C2A","PKD2","PKHD1","PKLR","PLEKHM1","PLVAP","POLG2","POLRMT","POR","PPM1B","PPOX","PREPL","PRF1","PRKAR1A","PTH","PTH1R","RACGAP1","RET","RFC2","RFX7","RMRP","RRAGD","RREB1","RYR1","SAMD9","SARS2","SCN10A","SCN4A","SCN4B","SCN5A","SCNN1A","SCNN1B","SCNN1G","SCO2","SDHA","SDHAF2","SDHB","SDHC","SDHD","SEC24C","SERPINA6","SETD2","SKIC2","SKIC3","SLC11A2","SLC12A1","SLC12A3","SLC20A2","SLC25A11","SLC25A38","SLC26A3","SLC2A1","SLC2A2","SLC30A10","SLC30A2","SLC30A9","SLC31A1","SLC33A1","SLC34A1","SLC34A2","SLC34A3","SLC39A14","SLC39A4","SLC39A8","SLC3A1","SLC40A1","SLC4A1","SLC4A2","SLC4A4","SLC5A1","SLC7A7","SMAD4","SNTA1","SNX10","SPATA5","STAR","STAT6","STEAP3","STX16","STX1A","SYK","TBCE","TBK1","TBL2","TBX1","TBX19","TBX5","TCIRG1","TDP2","TERT","TFR2","TIAM1","TICAM1","TLR3","TMEM127","TMEM270","TMPRSS6","TNFRSF11A","TNFRSF11B","TNFSF11","TP53","TRAF3","TRDN","TRIO","TRNT1","TRPM6","TSFM","TXNRD2","UBR1","UFD1","UNC45A","UNC93B1","USP53","USP8","VDR","VHL","VPS37D","WNK1","WNK4","ZNRF3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CIRCULATING_AMINO_ACID_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M41274","pmid":"","exactSource":"HP:0003112","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003112","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_AMINO_ACID_CONCENTRATION","geneSymbols":["AASS","ABCD4","ADK","AHCY","ALDH18A1","ALDH4A1","ALDH5A1","AMT","APP","ARG1","ASL","ASNS","ASPA","ASS1","ATP5F1A","ATP5F1B","ATP5F1D","ATP5F1E","ATP5MK","ATPAF1","ATPAF2","BCAT2","BCKDHA","BCKDHB","BCKDK","BCS1L","BOLA3","CA5A","CBS","CD320","COQ9","COX10","COX16","COX5A","COX6B1","COX8A","CPS1","CTH","DBT","DLD","DMGDH","DNM1L","DTYMK","FAH","FBP1","FBXL4","FOCAD","FTCD","GAMT","GCH1","GLDC","GLRX5","GLS","GLUL","GLYCTK","GNMT","GPHN","GUCY2D","HAL","HCFC1","HPD","HS6ST2","IBA57","IMPDH2","IRF6","KARS1","KYNU","LIG3","LIPT1","LIPT2","LMBRD1","LYRM7","MAT1A","MCCC1","MCCC2","MCEE","MDH1","MICOS13","MICU1","MIPEP","MMAA","MMAB","MMACHC","MMADHC","MMUT","MPO","MRM2","MRPL3","MRPS14","MRPS2","MT-ATP6","MT-ATP8","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND5","MT-ND6","MT-TK","MT-TL1","MT-TV","MT-TW","MTHFD1","MTHFR","MTO1","MTR","MTRR","NADK2","NAGS","NDUFA13","NDUFB10","NDUFC2","NDUFS4","NFE2L2","NFS1","NFU1","NGLY1","NOS3","NR4A2","OAT","OTC","PAH","PC","PCBD1","PCCA","PCCB","PCK1","PDHA1","PDHX","PDP1","PET117","PHGDH","PLAU","PNPO","POLG","PPM1K","PRDX1","PRODH","PSAT1","PSPH","PTS","QDPR","RRM2B","SARDH","SCO1","SERAC1","SKIC3","SLC19A1","SLC25A13","SLC25A15","SLC25A4","SLC30A10","SLC36A2","SLC6A18","SLC6A19","SLC6A20","SLC7A7","SPR","SUCLG1","TALDO1","TARS2","TAT","TDO2","TFAM","TMEM126B","TMEM70","TNFRSF11B","TRMT10C","TYMP","UPB1","UQCRC2","UROC1","USP53","VARS2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPOCHLOREMIA":{"collection":"C5:HPO","systematicName":"M36173","pmid":"","exactSource":"HP:0003113","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003113","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOCHLOREMIA","geneSymbols":["BSND","CLCNKA","CLCNKB","KCNJ1","MAGED2","SLC12A1","SLC26A3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_EKG":{"collection":"C5:HPO","systematicName":"M46081","pmid":"","exactSource":"HP:0003115","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003115","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_EKG","geneSymbols":["ABCC9","ACADVL","ACTC1","AKAP9","ALG10B","ALPK3","ANK2","ATP1A2","ATP1A3","BPTF","BRF1","CACNA1A","CACNA1C","CACNA1D","CACNA1S","CACNA2D1","CACNB2","CALM1","CALM2","CALM3","CAV3","CAVIN1","CDC73","CDKN1A","CDKN1B","CDKN2B","CDKN2C","CITED2","CLCNKB","CLN3","DBH","DCAF17","DMD","DNAJC19","DOHH","DPAGT1","DSC3","DSG2","DYSF","EMD","FLNC","FXN","GAA","GABRA3","GATA4","GATA6","GJA5","GMPPB","GNAS","GNB2","GNB5","GPC3","GPC4","GPD1L","GYG1","HADH","HCN4","IRX5","JUP","KCNA5","KCND3","KCNE1","KCNE2","KCNE3","KCNE5","KCNH2","KCNJ18","KCNJ2","KCNJ5","KCNJ8","KCNQ1","LAMP2","MECP2","MEN1","MT-CYB","MTFMT","MYH6","MYH7","MYL2","MYL3","NEU1","NKX2-5","NOS1AP","NPPA","PHOX2B","PKP2","PLXND1","POLG","PRKAG2","PSMD12","RAF1","RANGRF","RYR1","SCN10A","SCN1B","SCN2B","SCN3B","SCN4B","SCN5A","SCNN1A","SEMA3A","SLC12A3","SLC1A3","SLC4A3","SLC6A8","SLMAP","SNTA1","SRY","STX16","SVIL","TANGO2","TBX20","TBX5","TECRL","TLL1","TMEM43","TNNC1","TNNI3K","TNNT2","TRDN","TRPM4","TTR"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CIRCULATING_HORMONE_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M36175","pmid":"","exactSource":"HP:0003117","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003117","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_HORMONE_CONCENTRATION","geneSymbols":["AAAS","ABCA4","ABCC8","ABCD1","ADAT3","ADCY3","ADORA2A","AGBL5","AGPAT2","AHI1","AHR","AIP","AIRE","AKT1","AKT2","ALB","ALG12","ALG6","ALG8","ALMS1","AMH","AMHR2","ANOS1","APPL1","AR","ARHGEF18","ARL2BP","ARL3","ARL6","ARMC5","ATRX","AVP","B4GALNT1","BANF1","BAP1","BBS1","BBS2","BEST1","BLK","BMP15","BMP6","BMPR1B","BNC1","BRAF","BSCL2","BTG4","C14orf39","CA4","CASR","CATIP","CAV1","CAVIN1","CBX2","CC2D2A","CCDC134","CCDC141","CCDC34","CCND1","CDC73","CDH23","CDHR1","CDKN1A","CDKN1B","CDKN2A","CDKN2B","CDKN2C","CEL","CEP112","CERKL","CFAP418","CFTR","CHD7","CIDEC","CLDN16","CLDN19","CLN3","CLPP","CLRN1","CNBP","CNGA1","CNGB1","COL2A1","CPE","CRB1","CRX","CT55","CTDP1","CTNNB1","CTSK","CYB5A","CYP11A1","CYP11B1","CYP11B2","CYP17A1","CYP24A1","CYP27B1","CYP2R1","CYP3A4","DAXX","DBH","DCAF17","DCC","DHDDS","DHH","DHX37","DHX38","DIAPH2","DIO1","DIS3L2","DLST","DMRT3","DMXL2","DNAH10","DNHD1","DSG1","DUOX2","DUOXA2","DUSP6","EIF2B1","EPAS1","EPO","ERCC6","ESR1","ESR2","EYS","FAM111A","FAM161A","FAM20A","FANCM","FBXO43","FEZF1","FGD1","FGF17","FGF8","FGFR1","FH","FIGLA","FKBP6","FLRT3","FMR1","FN1","FOCAD","FOS","FOXA2","FOXL2","FSCN2","FSHB","FSHR","GALK1","GALT","GATA4","GATB","GATC","GCGR","GCK","GCM2","GCNA","GDF9","GH1","GHR","GHRHR","GHSR","GLI2","GLI3","GLIS3","GLUD1","GNAS","GNAS-AS1","GNRH1","GNRHR","GPR101","GUCA1B","HADH","HERC2","HESX1","HFE","HFM1","HGSNAT","HNF1A","HNF4A","HPGD","HS6ST1","HSD11B2","HSD17B4","HSD3B2","HTR1A","HYMAI","IDH3A","IDH3B","IFT140","IFT172","IFT88","IGF1","IGF1R","IGFALS","IGSF1","IL17RD","IMPDH1","IMPG1","IMPG2","INS","INSR","IRS4","IYD","KCNJ11","KCNJ18","KCNJ6","KIAA0753","KIAA1549","KIF1B","KISS1","KISS1R","KIZ","KL","KLF11","KLHL10","KLHL7","LARS2","LEP","LEPR","LGR4","LHB","LHCGR","LHX3","LHX4","LIPE","LMNA","LRAT","MADD","MAFA","MAGEL2","MAK","MAP3K1","MARS2","MAX","MC2R","MC4R","MCM8","MCM9","MCOLN1","MCTP2","MDH2","MECP2","MED12","MEIOB","MEN1","MERTK","MKRN3","MOV10L1","MPDU1","MPI","MRAP","MRPS22","MRPS7","MSH4","MSH5","NAB2","NANOS1","NDN","NDNF","NEK2","NEUROD1","NF1","NF2","NFKB2","NHLH2","NKX2-1","NKX2-5","NLGN3","NLGN4X","NNT","NPAP1","NR0B1","NR2E3","NR2F2","NR3C1","NR5A1","NRL","NSMCE2","NSMF","NUP107","OCA2","OCRL","OFD1","OTX2","PAPPA2","PAX4","PAX8","PCARE","PCSK1","PDE11A","PDE4D","PDE6A","PDE6B","PDE6G","PDE8B","PDGFB","PDGFRB","PDHA2","PDX1","PGM1","PHEX","PIK3CA","PLAGL1","PLIN1","PLVAP","PMM2","PNLDC1","PNPLA6","POLA1","POLR3A","POLR3H","POMC","POMGNT1","POR","POU1F1","PPARG","PPP2R3C","PRCD","PRDM13","PRKACA","PRKAR1A","PROK2","PROKR2","PROM1","PROP1","PRPF3","PRPF31","PRPF4","PRPF6","PRPF8","PRPH2","PSMB8","PSMC3IP","PTH","PWAR1","PWRN1","QRSL1","RBM28","RBP3","RDH12","REEP6","RET","RGR","RHO","RLBP1","RNF125","RNF212","RNU4ATAC","ROBO1","ROM1","RP1","RP1L1","RP2","RP9","RPE65","RPGR","RPL10L","SAG","SCAPER","SDHA","SDHAF2","SDHB","SDHC","SDHD","SECISBP2","SEMA3A","SEMA4A","SERPINA6","SH2B1","SHOC1","SHROOM4","SIK3","SIM1","SLC16A1","SLC16A2","SLC25A11","SLC25A36","SLC34A1","SLC34A3","SLC35A2","SLC39A4","SLC5A2","SLC5A5","SLC7A14","SLCO2A1","SMARCAL1","SMARCB1","SMARCE1","SMC5","SMO","SMPD1","SNORD115-1","SNORD116-1","SNRNP200","SNRPN","SOHLH1","SOST","SOX10","SOX3","SOX9","SPAG17","SPATA7","SPIDR","SPRY4","SRY","STAG3","STAR","STAT5B","STAT6","STX16","SUFU","SYCE1","SYCP3","TAC3","TACR3","TAF4B","TBCE","TBL1X","TBX1","TBX19","TDO2","TDRD9","TERB1","TERB2","TERT","TEX11","TEX14","TEX15","TG","THRA","THRB","TMEM127","TMEM67","TOPORS","TP53","TP63","TPO","TRAF7","TRHR","TRMT10A","TRPV6","TSHB","TSHR","TTC8","TUB","TULP1","TXNRD2","UCP2","USH2A","USP48","USP8","USP9X","VAMP7","VDR","VHL","WDR11","WNT4","WT1","WWOX","XRCC2","YY1","ZFP57","ZFPM2","ZMPSTE24","ZMYND15","ZNF408","ZNF513","ZNRF3","ZSWIM7"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INCREASED_CIRCULATING_CORTISOL_LEVEL":{"collection":"C5:HPO","systematicName":"M36176","pmid":"","exactSource":"HP:0003118","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003118","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_CIRCULATING_CORTISOL_LEVEL","geneSymbols":["AIRE","ARMC5","ATRX","BRAF","CBX2","CDH23","CDKN1A","CDKN1B","CDKN2A","CDKN2B","CDKN2C","CTNNB1","CYP11B1","CYP11B2","GNAS","HTR1A","KCNJ11","MEN1","NR3C1","PDE11A","PDE8B","POR","PRKACA","PRKAR1A","RET","TERT","TP53","USP48","USP8","ZNRF3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CIRCULATING_LIPID_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M36177","pmid":"","exactSource":"HP:0003119","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003119","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_LIPID_CONCENTRATION","geneSymbols":["ABCA1","ABCA2","ABCB4","ABCC8","ABCD1","ABCD4","ABCG5","ABCG8","ABHD5","ACAD8","ACAD9","ACADM","ACADS","ACADVL","ACOX2","ACTN4","ADCY3","AEBP1","AGL","AGPAT2","AKT2","ALB","ALG12","ALG6","ALMS1","AMACR","ANGPTL3","AP1S1","APOA1","APOA2","APOA5","APOB","APOC2","APOC3","APOE","APTX","AR","ARMC5","ATAD3A","ATP6AP1","B4GALT1","BAZ1B","BCAP31","BCL7B","BSCL2","BUD23","CAV1","CAV3","CAVIN1","CCDC115","CCT5","CELA2A","CEP19","CETP","CFH","CFHR1","CFHR3","CIDEC","CLIP2","COG4","COL7A1","COX16","CPT1A","CPT2","CREB3L3","CYP11A1","CYP19A1","CYP27A1","CYP7A1","CYP7B1","DCAF17","DEAF1","DEF6","DGAT1","DHCR24","DHCR7","DIO1","DLD","DLK1","DNAJC30","DNM1L","DOLK","DYRK1B","EBP","EHHADH","EIF4H","ELN","EMD","EPHX2","ETHE1","FARSA","FBN1","FDFT1","FECH","FHL1","FKBP6","FLCN","FLII","FOS","G6PC1","GALK1","GALNT2","GATM","GHR","GK","GLA","GLYCTK","GNAS","GNPAT","GPD1","GPIHBP1","GTF2I","GTF2IRD1","GTF2IRD2","GYS2","HADH","HADHA","HAVCR2","HNF1A","HNF4A","HSD17B4","HSD3B7","HTT","IFT172","IL12A","IL12RB1","IQSEC2","IRF5","JAG1","KCNJ1","KCNJ11","KIF12","LCAT","LDLR","LDLRAP1","LEP","LEPR","LIMK1","LIPA","LIPC","LIPE","LMAN1","LMBRD1","LMF1","LMNA","LMNB2","LPL","LRP6","LTC4S","LYRM7","LYST","MC4R","MCEE","MCFD2","MCM10","MEF2A","MEG3","METTL27","MLXIPL","MMACHC","MMEL1","MMP1","MSMO1","MT-TE","MT-TK","MT-TL1","MTTP","MTX2","MYO5A","MYO5B","NADK2","NCF1","NDUFAF6","NGLY1","NPHS1","NPHS2","NSDHL","NSMCE2","NUP107","OCRL","PANK2","PCSK9","PCYT1A","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PEX7","PHKA2","PHKB","PHKG2","PHYH","PIGH","PIGT","PIK3CG","PIK3R5","PLA2G4A","PLA2G7","PLIN1","PLVAP","PMM2","PNKP","PNLIP","PNPLA2","POLD1","POLR3A","POU2AF1","PPARG","PPP1R17","PRF1","PSAP","PSMB10","PSMB4","PSMB8","PSMB9","PYGL","RAB27A","RAI1","REPS1","RFC2","RSPO1","RTL1","SAR1B","SC5D","SCO1","SCP2","SETX","SGPL1","SH2B1","SLC12A1","SLC25A13","SLC25A20","SLC25A36","SLC29A3","SLC2A2","SLC2A3","SLC34A1","SLC37A4","SLC52A1","SLC7A7","SMARCAL1","SMPD1","SPIB","STX11","STX1A","STXBP2","SYNE1","SYNE2","TANGO2","TBCK","TBL1X","TBL2","TDP1","TFG","TMEM199","TMEM270","TMEM43","TNFRSF9","TNFSF15","TNPO3","TRMU","TSHB","TTC26","TTPA","UBE3B","UBR1","UCP2","UNC13D","VPS37D","WRN","XIAP","XRCC4","YARS1","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LIMB_JOINT_CONTRACTURE":{"collection":"C5:HPO","systematicName":"M36178","pmid":"","exactSource":"HP:0003121","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003121","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIMB_JOINT_CONTRACTURE","geneSymbols":["ABCC8","ABCC9","ABCD1","ABHD12","ACTA1","ACTG2","ADAMTS3","ADAMTSL2","ADAT3","ADGRG6","ALAD","ALDH18A1","ALG14","ALG2","ALG3","ALS2","ALX1","ALX3","AMER1","ANKLE2","ANO5","ANTXR2","APC2","ARID1B","ARPC4","ARX","ASXL1","ASXL3","ATP5F1D","ATP6V1E1","ATR","AUTS2","B3GALT6","B3GAT3","BAG3","BCAS3","BCOR","BCR","BICD2","BIN1","BRF1","C18orf32","C19orf12","CADM3","CAMLG","CANT1","CAPN3","CASZ1","CAV1","CCBE1","CCDC22","CCN2","CCN6","CCR6","CDC45","CDC6","CDH3","CDT1","CFL2","CHRNB1","CHRNG","CHST3","CLCF1","CNTN1","CNTNAP1","COG5","COL11A1","COL11A2","COL12A1","COL17A1","COL1A1","COL25A1","COL2A1","COL6A1","COL6A2","COL6A3","COL7A1","COX11","CPT2","CRKL","CRLF1","CRPPA","CSGALNACT1","CTCF","CTDP1","CUL4B","DAG1","DDHD2","DDR2","DHCR24","DHODH","DHX16","DLK1","DLL3","DMD","DOK7","DPAGT1","DPM1","DSP","DVL1","DVL3","DYRK1A","ECE1","ECEL1","EED","EFNB1","EIF5A","EMD","EMG1","ERCC1","ERCC2","ERCC4","ERCC5","ERCC6","ERCC8","ERGIC1","ERLIN1","ERLIN2","ESCO2","EXTL3","EZH2","F8","FAT4","FBN1","FBN2","FBXO28","FBXW11","FDFT1","FERMT1","FGD1","FGFR1","FGFR3","FHL1","FIG4","FKBP10","FKRP","FKTN","FLNA","FLVCR1","FUS","FZD2","GABRD","GARS1","GCK","GDAP1","GDF5","GFM2","GFPT1","GJA1","GJB1","GJB2","GJB6","GLDN","GLI3","GMNN","GMPPB","GNB2","GNPTAB","GNS","GON7","GPC3","GPC4","GPKOW","GRIN1","H4C9","HACD1","HES7","HEXB","HINT1","HK1","HLA-DRB1","HNRNPA1","HOXD13","HRAS","HS2ST1","HSPB1","HSPG2","IDS","IDUA","IGF2","IGHMBP2","IKBKG","IL6ST","INF2","INS","IPO8","IRF5","ITGA7","ITGB4","JAG2","JARID2","JUP","KAT6B","KCNAB2","KCNJ11","KCNK9","KDM5B","KDM5C","KIAA0319L","KIF21A","KIF22","KIF5A","KLHL9","KMT2A","KMT2B","KRT1","KRT14","KRT16","KRT9","KY","L1CAM","LAGE3","LAMA2","LAMB3","LARGE1","LBR","LFNG","LGI4","LIFR","LMBR1","LMBRD2","LMNA","LMX1B","LUZP1","MAFB","MAP3K20","MAP3K7","MAPK1","MARS1","MBTPS2","MECP2","MECR","MED11","MED12","MED25","MEG3","MEGF10","MEGF8","MESP2","MKS1","MMP1","MMP2","MMP23B","MORC2","MT-TE","MUSK","MYBPC1","MYH3","MYL1","MYL11","MYL2","MYO9A","MYOD1","MYOT","NAA10","NALCN","NDRG1","NEB","NEDD4L","NEFL","NFATC2","NGLY1","NIPBL","NLRP3","NOD2","NOG","NSD1","NSUN2","NT5C2","NUP107","NUP133","NUP88","NXN","OCRL","OPA1","ORAI1","ORC1","ORC4","ORC6","OSGEP","OTUD6B","P4HTM","PAX3","PDGFRB","PDPN","PDX1","PDXK","PEX1","PEX5","PEX6","PHF6","PHGDH","PI4KA","PIEZO2","PIGA","PIGL","PIGN","PIGY","PIK3C2A","PIK3R2","PITX1","PLEC","PLEKHG5","PLOD1","PLOD2","PLOD3","PMP22","PNPT1","POLR3A","POLR3GL","POMT1","POR","PORCN","PPP2R5D","PQBP1","PRDM16","PRG4","PRKCZ","PSAT1","PSMB8","PSTPIP1","PTDSS1","PTH1R","PTRH2","PYCR1","PYROXD1","RAB23","RAB3GAP1","RAPSN","RARS2","RBM28","REEP1","RERE","RIPPLY2","RMRP","RNU4ATAC","ROR2","RPL10","RSPO2","RTL1","RTTN","RYR1","RYR3","SCARF2","SCN4A","SCYL2","SDHA","SDHAF1","SDHB","SDHD","SELENON","SEPSECS","SETD2","SGCA","SGCG","SH3PXD2B","SHH","SIGMAR1","SIK3","SIN3A","SKI","SLC10A7","SLC12A6","SLC18A3","SLC1A4","SLC25A19","SLC25A4","SLC25A46","SLC26A2","SLC29A3","SLC35A2","SLC35A3","SLC39A13","SLC39A14","SLC39A8","SLC6A9","SMAD3","SMARCAD1","SMC1A","SMG9","SMOC1","SNAP25","SNRPB","SOX9","SPEG","SPEN","SPG11","SPRTN","SPTBN4","SPTLC1","SRD5A3","STAT3","SUZ12","SVIL","SYNE1","SYNE2","SYT2","TBC1D2B","TBR1","TBX15","TBX2","TBX3","TCTN3","TDO2","TELO2","TFAP2A","TGDS","TGFB3","TGFBR1","TGFBR2","TLK2","TMEM218","TMEM222","TMEM43","TMEM70","TNNI2","TNNT1","TNNT3","TOR1A","TOR1AIP1","TP53RK","TP63","TPM2","TPM3","TPRKB","TRIM2","TRPS1","TRPV4","TTN","TUBA1A","TUBB3","TWIST2","UBA1","UBE4B","UFC1","UNC80","UPF3B","UROS","VARS1","WDR26","WDR4","WDR73","WNT5A","WNT7A","XYLT1","YRDC","ZBTB20","ZC4H2","ZDHHC9","ZMPSTE24","ZNF407"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPERCHOLESTEROLEMIA":{"collection":"C5:HPO","systematicName":"M36179","pmid":"","exactSource":"HP:0003124","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003124","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERCHOLESTEROLEMIA","geneSymbols":["ABCB4","ABCG5","ABCG8","AGPAT2","ALB","APOB","APOC2","APOE","APTX","ATP6AP1","BSCL2","CAV1","CAV3","CAVIN1","CCDC115","CEP19","CETP","COG4","CREB3L3","CYP7A1","DEAF1","DGAT1","DIO1","DLK1","DYRK1B","FLII","FOS","GALK1","GHR","IFT172","IQSEC2","JAG1","KIF12","LDLR","LDLRAP1","LIPA","LIPC","LMNA","LPL","MEF2A","MEG3","MYO5B","NUP107","OCRL","PCSK9","PHKA2","PHKB","PHKG2","PIK3R5","PNKP","PPARG","PYGL","RAI1","RSPO1","RTL1","SETX","SLC25A13","SLC25A36","SLC37A4","SLC7A7","TBL1X","TDP1","TMEM199","TSHB","TTC26","TTPA"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_REDUCED_FACTOR_VIII_ACTIVITY":{"collection":"C5:HPO","systematicName":"M47070","pmid":"","exactSource":"HP:0003125","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003125","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_FACTOR_VIII_ACTIVITY","geneSymbols":["F8","LMAN1","MCFD2","SOS1","VWF"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LOW_MOLECULAR_WEIGHT_PROTEINURIA":{"collection":"C5:HPO","systematicName":"M41275","pmid":"","exactSource":"HP:0003126","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003126","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOW_MOLECULAR_WEIGHT_PROTEINURIA","geneSymbols":["CLCN5","CTNS","EHHADH","GATM","NDUFAF6","OCRL","SLC34A1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPOCALCIURIA":{"collection":"C5:HPO","systematicName":"M36180","pmid":"","exactSource":"HP:0003127","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003127","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOCALCIURIA","geneSymbols":["AP2S1","CASR","CLCNKB","CLDN10","FAM20A","FXYD2","GNA11","KCNJ10","PHEX","SLC12A3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LACTIC_ACIDOSIS":{"collection":"C5:HPO","systematicName":"M36181","pmid":"","exactSource":"HP:0003128","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003128","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LACTIC_ACIDOSIS","geneSymbols":["AARS2","ACAD9","AGK","ALDH7A1","ALDOB","ATP5F1A","ATP5F1D","ATP5F1E","ATP5MK","ATPAF1","ATPAF2","BCKDHA","BCKDHB","BCS1L","BOLA3","C1QBP","CA5A","CAMKMT","COA6","COA8","COQ2","COQ8A","COQ9","COX10","COX15","COX16","COX6B1","COX8A","CYC1","DBT","DGUOK","DLAT","DLD","DNM1L","EARS2","ELAC2","ETHE1","FARS2","FBP1","FBXL4","FDX2","FH","FOXRED1","G6PC1","GATB","GATC","GFER","GTPBP3","HADH","HADHA","HLCS","HSD17B10","IBA57","ISCU","LARS1","LARS2","LIAS","LIG3","LIPT1","LIPT2","LONP1","LRPPRC","LYRM4","LYRM7","MARS1","MICOS13","MIPEP","MLYCD","MPC1","MPV17","MRPS14","MRPS16","MRPS22","MRPS34","MRPS7","MT-ATP6","MT-ATP8","MT-CO1","MT-CO2","MT-CO3","MT-CYB","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND5","MT-ND6","MT-TC","MT-TE","MT-TF","MT-TH","MT-TK","MT-TL1","MT-TN","MT-TQ","MT-TS1","MT-TS2","MT-TT","MT-TV","MT-TW","MTO1","NADK2","NAXE","NDUFA1","NDUFA10","NDUFA11","NDUFA4","NDUFA6","NDUFA8","NDUFAF1","NDUFAF2","NDUFAF3","NDUFAF4","NDUFAF5","NDUFAF6","NDUFAF8","NDUFB10","NDUFB11","NDUFB3","NDUFB7","NDUFB9","NDUFS1","NDUFS2","NDUFS3","NDUFS4","NDUFS6","NDUFS7","NDUFS8","NDUFV1","NDUFV2","NFU1","NSUN3","NUBPL","OGDH","PC","PCCA","PCCB","PCK1","PDHA1","PDHB","PDHX","PDP1","PET100","PHKA2","PHKB","PHKG2","PLPBP","PMPCA","PNPLA8","POLG","PPM1B","PREPL","PUS1","PYGL","QRSL1","RMND1","RRM2B","RYR1","SCO2","SDHA","SDHD","SERAC1","SFXN4","SLC25A13","SLC25A19","SLC25A26","SLC25A3","SLC25A4","SLC25A42","SLC37A4","SLC3A1","SLC52A1","SQOR","SUCLA2","SUCLG1","SURF1","TAFAZZIN","TANGO2","TIMMDC1","TK2","TKFC","TMEM126B","TMEM70","TPK1","TRMT10C","TRMT5","TRMU","TRNT1","TSFM","TUFM","TYMP","UQCC2","UQCC3","UQCRFS1","USP18","VARS2","WARS2","YARS2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_PERIPHERAL_MYELINATION":{"collection":"C5:HPO","systematicName":"M36182","pmid":"","exactSource":"HP:0003130","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003130","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PERIPHERAL_MYELINATION","geneSymbols":["ABCA1","ADCY6","AFG3L2","APTX","ARHGEF10","ARSA","ASXL1","COQ7","COX6A1","CTDP1","DCAF8","DHH","DHX16","DNM2","DNMT1","EGR2","ELP1","ERCC6","ERCC8","FA2H","FGD4","FIG4","FLRT1","FLVCR1","GALC","GAN","GBF1","GCDH","GDAP1","GJB1","GNB4","HACE1","HK1","HSPB8","HYCC1","INF2","JPH1","KCNJ10","KIF1A","KIF1B","KIF1C","KLC2","LIG3","LITAF","LMNA","LMNB1","LRPPRC","MAT1A","MFN2","MMACHC","MME","MOCS1","MOCS2","MORC2","MPV17","MPZ","MT-ATP6","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND5","MT-ND6","MT-TK","MT-TL1","MT-TV","MT-TW","MTMR2","MTRFR","MTTP","NDRG1","NEFL","NGF","NTRK1","PEX16","PLEKHG5","PLP1","PMP2","PMP22","PNPT1","POLG","PRPS1","PRX","PSAP","RAB7A","RAI1","RETREG1","RRM2B","SACS","SBF1","SBF2","SCN9A","SH3TC2","SLC12A6","SOX10","SPG11","SPTBN1","SPTLC1","SUMF1","SURF1","TDP1","TFG","TRIM2","TWNK","TYMP","TYROBP","UBTF","VPS13A","WNK1","YARS1","ZNHIT3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CYSTINURIA":{"collection":"C5:HPO","systematicName":"M36183","pmid":"","exactSource":"HP:0003131","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003131","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CYSTINURIA","geneSymbols":["AASS","CAMKMT","PPM1B","PREPL","SLC3A1","SLC7A9"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_SPINOCEREBELLAR_TRACTS":{"collection":"C5:HPO","systematicName":"M36184","pmid":"","exactSource":"HP:0003133","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003133","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_SPINOCEREBELLAR_TRACTS","geneSymbols":["ATXN1","ATXN2","ATXN3","GCLC","GJB1","MAN2B1","PLP1","PRKAR1B","REPS1","RNASEH1","RRM2B","TDP1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_PERIPHERAL_NERVE_CONDUCTION":{"collection":"C5:HPO","systematicName":"M47071","pmid":"","exactSource":"HP:0003134","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003134","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_PERIPHERAL_NERVE_CONDUCTION","geneSymbols":["AARS1","ABHD12","AIFM1","ALS2","ARHGEF10","ARSA","ATL1","ATL3","ATP11A","ATP7B","ATXN1","ATXN10","BSCL2","CACNA1S","CADM3","CCT5","CEP126","CHCHD10","CNTNAP1","CPLANE1","CTDP1","CYP27A1","DCAF8","DEGS1","DHH","DHX16","DNAJB6","DNAJC3","DNM2","EGR2","EMILIN1","ERCC3","ERCC4","ERCC6","ERCC8","FBLN5","FBN1","FBXO38","FGD4","FIG4","FLVCR1","FXN","GABRA3","GALC","GARS1","GDAP1","GFM2","GJB1","GJC2","HK1","HPDL","HSD17B4","HSPB1","HSPB8","HYCC1","IDUA","IGHMBP2","ITPR3","JPH1","KARS1","KCNJ18","KIF1A","KIF1B","LAMA2","LIG3","LITAF","LMNA","LRSAM1","LTBP3","LYST","MATR3","MED25","MEGF10","MFF","MFN2","MORC2","MPV17","MPZ","MTMR2","MTRFR","MYH14","NALCN","NDRG1","NEFL","NEU1","NFASC","NGLY1","NOTCH2NLC","NTRK1","PDK3","PEX6","PLA2G6","PLEKHG5","PLP1","PMP2","PMP22","PNKP","PNPT1","POLG","PRDX3","PRPS1","PRX","PSAP","PTRH2","RAB7A","RAI1","REEP1","RETREG1","RFC1","RRM2B","SACS","SAMD9L","SBF1","SBF2","SCN9A","SCP2","SETX","SH3TC2","SIGMAR1","SLC12A6","SLC25A15","SLC5A7","SNAP29","SORD","SOX10","SPG21","SPTLC1","SPTLC2","SUCLA2","SUMF1","SYT2","TBC1D20","TDP1","TFG","TPI1","TRIM2","TRPV4","TYMP","UBA1","UQCRC1","VAMP1","VCP","VPS13A","WNK1","YARS1","YME1L1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PROLINURIA":{"collection":"C5:HPO","systematicName":"M36185","pmid":"","exactSource":"HP:0003137","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003137","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROLINURIA","geneSymbols":["ALDH4A1","OPLAH","PRODH","SLC36A2","SLC6A18","SLC6A19","SLC6A20"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PANHYPOGAMMAGLOBULINEMIA":{"collection":"C5:HPO","systematicName":"M36187","pmid":"","exactSource":"HP:0003139","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003139","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PANHYPOGAMMAGLOBULINEMIA","geneSymbols":["AARS1","BTK","CARS1","CIITA","DCLRE1C","ERCC2","ERCC3","GTF2E2","GTF2H5","IGHM","IL21R","JAK3","MPLKIP","PIK3R1","RAG1","RAG2","RFX5","RFXANK","RFXAP","RNF113A","SKIC2","SKIC3","SP110","TARS1","ZAP70"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INCREASED_LDL_CHOLESTEROL_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M36188","pmid":"","exactSource":"HP:0003141","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003141","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_LDL_CHOLESTEROL_CONCENTRATION","geneSymbols":["ABCA2","ABCG5","ABCG8","ALB","APOA2","APOB","APOE","CCDC115","CELA2A","CEP19","CYP7A1","DYRK1B","EMD","EPHX2","FHL1","GHR","LCAT","LDLR","LDLRAP1","LIPA","LMNA","LPL","LRP6","PCSK9","PPP1R17","SLC25A13","SLC7A7","SMPD1","SYNE1","SYNE2","TMEM199","TMEM43","TTPA"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INCREASED_SERUM_SEROTONIN":{"collection":"C5:HPO","systematicName":"M36189","pmid":"","exactSource":"HP:0003144","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003144","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_SERUM_SEROTONIN","geneSymbols":["ATRX","CDKN1A","CDKN1B","CDKN2B","CDKN2C","DAXX","MECP2","MEN1","NLGN3","NLGN4X","SDHD","SHROOM4","SNRPN","TDO2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DECREASED_ADENOSYLCOBALAMIN":{"collection":"C5:HPO","systematicName":"M36190","pmid":"","exactSource":"HP:0003145","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003145","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_ADENOSYLCOBALAMIN","geneSymbols":["ABCD4","LMBRD1","MMAA","MMAB","MMACHC","MMADHC","PRDX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPOCHOLESTEROLEMIA":{"collection":"C5:HPO","systematicName":"M36191","pmid":"","exactSource":"HP:0003146","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003146","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOCHOLESTEROLEMIA","geneSymbols":["ABCA1","ALG12","APOB","ATAD3A","DHCR7","FDFT1","FLCN","HSD3B7","MSMO1","MTTP","PEX12","PMM2","PNLIP","PSAP","SAR1B","UBE3B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ELEVATED_SERUM_ACID_PHOSPHATASE":{"collection":"C5:HPO","systematicName":"M43286","pmid":"","exactSource":"HP:0003148","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003148","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELEVATED_SERUM_ACID_PHOSPHATASE","geneSymbols":["CA2","CLCN7","LRP5","OCRL","PSAP","TNFRSF11B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPERURICOSURIA":{"collection":"C5:HPO","systematicName":"M41276","pmid":"","exactSource":"HP:0003149","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003149","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERURICOSURIA","geneSymbols":["ALDOB","EHHADH","GATM","HPRT1","NDUFAF6","PRPS1","SLC22A12","SLC2A9","SLC34A1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_GLUTARIC_ACIDURIA":{"collection":"C5:HPO","systematicName":"M36192","pmid":"","exactSource":"HP:0003150","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003150","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GLUTARIC_ACIDURIA","geneSymbols":["D2HGDH","ETFA","ETFB","ETFDH","GCDH","HMGCL","SUGCT"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INCREASED_CIRCULATING_ACTH_LEVEL":{"collection":"C5:HPO","systematicName":"M36193","pmid":"","exactSource":"HP:0003154","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003154","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_CIRCULATING_ACTH_LEVEL","geneSymbols":["AIP","ATRX","BRAF","CDH23","CYP11A1","CYP11B1","DAXX","MC2R","MRAP","NNT","NR3C1","POR","TP53","USP48","USP8"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPEROXALURIA":{"collection":"C5:HPO","systematicName":"M36195","pmid":"","exactSource":"HP:0003159","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003159","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPEROXALURIA","geneSymbols":["AGXT","GRHPR","HOGA1","OXGR1","PEX1","SLC26A1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FASTING_HYPOGLYCEMIA":{"collection":"C5:HPO","systematicName":"M36196","pmid":"","exactSource":"HP:0003162","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003162","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FASTING_HYPOGLYCEMIA","geneSymbols":["ABCC8","AKT2","FBP1","G6PC1","GCDH","GRB10","GYS2","HNF1A","HNF4A","IARS2","IGF2","INSR","KCNJ11","PCK1","PHKA2","PHKB","PHKG2","SECISBP2","SLC1A1","SLC25A20","SLC2A2","TBX19"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ELEVATED_URINARY_DELTA_AMINOLEVULINIC_ACID":{"collection":"C5:HPO","systematicName":"M41277","pmid":"","exactSource":"HP:0003163","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003163","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELEVATED_URINARY_DELTA_AMINOLEVULINIC_ACID","geneSymbols":["ALAD","CPOX","FAH","HMBS","PPOX"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ELEVATED_CIRCULATING_PARATHYROID_HORMONE_LEVEL":{"collection":"C5:HPO","systematicName":"M36198","pmid":"","exactSource":"HP:0003165","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003165","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELEVATED_CIRCULATING_PARATHYROID_HORMONE_LEVEL","geneSymbols":["CASR","CDC73","CDKN1B","CLDN16","CYP27B1","CYP2R1","CYP3A4","GCM2","GNAS","GNAS-AS1","KL","MEN1","NF1","PDE4D","PHEX","PRKAR1A","SLC34A1","SOST","STX16","VDR"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_ACETABULUM_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M36199","pmid":"","exactSource":"HP:0003170","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003170","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ACETABULUM_MORPHOLOGY","geneSymbols":["AP3B1","AP4B1","AP4E1","AP4M1","AP4S1","ARSB","ARSK","B3GALT6","BGN","CANT1","CCN6","CENPJ","CEP120","CHD4","CHRNG","COG1","COL10A1","COL1A1","COL1A2","COL25A1","COL2A1","COMP","CRTAP","CSGALNACT1","CSPP1","DYM","DYNC2H1","DYNC2I1","DYNLT2B","EIF4A3","ERCC1","ERGIC1","EVC","EVC2","EXTL3","FBN1","FGFR2","FGFR3","FIG4","FKBP10","FLNB","GATA1","GLB1","GNPTAB","GPX4","GUSB","HOXA11","HSPG2","HYAL1","IFIH1","IFT52","INPPL1","KIAA0586","LAMA5","LYSET","MATN3","MMP2","MYO18B","NANS","NRCAM","PAM16","PLOD1","POLR1A","PTH1R","RAB23","RAB33B","RINT1","RNU4ATAC","RPS15A","SCYL2","SERPINF1","SLC26A2","SLC35A3","SLC35D1","SMAD3","SMARCAL1","TBX4","TGFB2","TGFBR2","TIMM22","TMEM67","TONSL","TRIP11","TRPV4","UFSP2","VPS33A","WDR19","WDR35","XYLT1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_PUBIC_BONE_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M36200","pmid":"","exactSource":"HP:0003172","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003172","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PUBIC_BONE_MORPHOLOGY","geneSymbols":["ABCC9","ATP7A","BMP1","CAV1","CBFB","CCDC8","CCN2","CCR6","COL11A2","COL2A1","CPLX1","CTBP1","CUL7","DYM","FGFR2","FIG4","FLNA","FRAS1","FREM2","GJB2","GJB6","GRIP1","GSC","HLA-DRB1","HNRNPR","HSPG2","INPPL1","INTU","IRF5","KAT6B","KIAA0319L","LETM1","MATN3","NELFA","NKX3-2","NSD2","OBSL1","PIGG","RNU4ATAC","RUNX2","SETBP1","SIK3","SMAD4","TBX15","WNT7A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_ISCHIUM_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M36201","pmid":"","exactSource":"HP:0003174","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003174","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ISCHIUM_MORPHOLOGY","geneSymbols":["ABCC9","ALG9","CAV1","CCDC8","CCN2","CCR6","CDCA7","COL11A1","COL11A2","COL2A1","CUL7","EXTL3","FGFR2","HLA-DRB1","HSPG2","IFT43","INPPL1","IRF5","KAT6B","KIAA0319L","LIFR","OBSL1","PAM16","TBX15","TMEM53","TRIP11"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPOPLASTIC_ISCHIA":{"collection":"C5:HPO","systematicName":"M36202","pmid":"","exactSource":"HP:0003175","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003175","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASTIC_ISCHIA","geneSymbols":["ABCC9","CCDC8","CDCA7","COL11A1","COL11A2","COL2A1","CUL7","FGFR2","HSPG2","IFT43","INPPL1","KAT6B","OBSL1","PAM16","TBX15","TRIP11"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SQUARED_ILIAC_BONES":{"collection":"C5:HPO","systematicName":"M36203","pmid":"","exactSource":"HP:0003177","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003177","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SQUARED_ILIAC_BONES","geneSymbols":["AEBP1","CEP120","COG1","HSPG2","INPPL1","LONP1","MATN3","NEPRO","PAM16","PLCB3","PTH1R","RNU4ATAC","TRPV4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PROTRUSIO_ACETABULI":{"collection":"C5:HPO","systematicName":"M36204","pmid":"","exactSource":"HP:0003179","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003179","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROTRUSIO_ACETABULI","geneSymbols":["COL1A1","COL1A2","CRTAP","FBN1","FKBP10","HSPG2","MMP2","PLOD1","SERPINF1","SMAD3","TGFB2","TGFBR2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FLAT_ACETABULAR_ROOF":{"collection":"C5:HPO","systematicName":"M36205","pmid":"","exactSource":"HP:0003180","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003180","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FLAT_ACETABULAR_ROOF","geneSymbols":["BGN","CANT1","CEP120","CHD4","COG1","COL2A1","COMP","CSGALNACT1","DYM","FGFR3","FIG4","FLNB","GNPTAB","GPX4","IFT52","INPPL1","LYSET","MATN3","NANS","PAM16","PTH1R","RAB33B","SLC26A2","SLC35D1","TRIP11","TRPV4","WDR35","XYLT1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SHALLOW_ACETABULAR_FOSSAE":{"collection":"C5:HPO","systematicName":"M36206","pmid":"","exactSource":"HP:0003182","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003182","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHALLOW_ACETABULAR_FOSSAE","geneSymbols":["COG1","GATA1","GNPTAB","HOXA11","IFIH1","RAB23","RNU4ATAC","SMARCAL1","TBX4","TONSL","UFSP2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_WIDE_PUBIC_SYMPHYSIS":{"collection":"C5:HPO","systematicName":"M36207","pmid":"","exactSource":"HP:0003183","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003183","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WIDE_PUBIC_SYMPHYSIS","geneSymbols":["BMP1","DYM","FRAS1","FREM2","GRIP1","HNRNPR","RUNX2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DECREASED_HIP_ABDUCTION":{"collection":"C5:HPO","systematicName":"M36208","pmid":"","exactSource":"HP:0003184","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003184","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_HIP_ABDUCTION","geneSymbols":["CHST3","MATN3","NFIX","PIEZO2","TNNT1","TPM2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SHORT_GREATER_SCIATIC_NOTCH":{"collection":"C5:HPO","systematicName":"M43287","pmid":"","exactSource":"HP:0003185","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003185","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_GREATER_SCIATIC_NOTCH","geneSymbols":["FGFR3","GPC3","GPC4","SLC26A2","TRPV4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INVERTED_NIPPLES":{"collection":"C5:HPO","systematicName":"M36209","pmid":"","exactSource":"HP:0003186","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003186","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INVERTED_NIPPLES","geneSymbols":["ACOX1","ALG11","ALG12","ALG2","ALG3","ALG8","ALG9","ATN1","B4GALT1","BICRA","C18orf32","CACNA1C","COG7","DEF6","DLK1","DPAGT1","DPM1","EBF3","EZH2","HNRNPK","INTU","JARID2","KAT6A","KMT2B","LBR","MAN1B1","MEG3","MGAT2","NFIX","PEX3","PIGT","PMM2","RERE","RFT1","RTL1","SET","SLC25A46","SLC35A2","SOX6","SRD5A3","STT3A","TBX3","TCF20","TWIST2","WAC","WASF1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BREAST_HYPOPLASIA":{"collection":"C5:HPO","systematicName":"M36210","pmid":"","exactSource":"HP:0003187","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003187","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BREAST_HYPOPLASIA","geneSymbols":["ACTB","ANOS1","ANTXR1","CCDC141","CDT1","CHD7","DCC","DUSP6","EFNB1","ESR1","FEZF1","FGF17","FGF8","FGFR1","FLRT3","FSHB","GNRH1","GNRHR","HESX1","HS6ST1","IKBKG","IL17RD","KISS1","KISS1R","MAF","NDNF","NHLH2","NIN","NSMF","ORC1","ORC4","ORC6","POC1A","PROK2","PROKR2","SEMA3A","SOX10","SPRY4","TAC3","TACR3","TBX3","TP63","TWIST2","USP9X","WDR11","YY1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LONG_NOSE":{"collection":"C5:HPO","systematicName":"M36211","pmid":"","exactSource":"HP:0003189","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003189","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LONG_NOSE","geneSymbols":["ABL1","ACTB","ACTG1","AP1S2","AP4E1","ASXL3","EXTL3","FGFR2","FRA10AC1","GABRA3","GJA1","JAG1","KAT6B","MED12","NBN","NEXMIF","NOG","NOTCH2","OPHN1","PIEZO2","PIGS","PIGU","POLE","RECQL4","RNU4ATAC","SATB2","SCUBE3","SETD2","SLC9A6","SMG9","SOX11","SOX18","SPATA5","SRCAP","THOC6","TRPM3","TWIST1","XRCC4","ZBTB18","ZMYM2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CLEFT_ALA_NASI":{"collection":"C5:HPO","systematicName":"M46082","pmid":"","exactSource":"HP:0003191","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003191","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CLEFT_ALA_NASI","geneSymbols":["ALX4","FRAS1","FREM2","GRIP1","PORCN"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ALLERGIC_RHINITIS":{"collection":"C5:HPO","systematicName":"M36212","pmid":"","exactSource":"HP:0003193","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003193","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ALLERGIC_RHINITIS","geneSymbols":["CARMIL2","CDSN","COX4I2","CPN1","IGHG2","IGKC","IL21R","IL4R","KRT74","MS4A2","PGM3","PLA2G7","PLCG2","SIK3","SLC27A4","SPINK5"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SHORT_NASAL_BRIDGE":{"collection":"C5:HPO","systematicName":"M47072","pmid":"","exactSource":"HP:0003194","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003194","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_NASAL_BRIDGE","geneSymbols":["FGFR3","NOTCH3","NR2F1","POMGNT1","TRPV6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SHORT_NOSE":{"collection":"C5:HPO","systematicName":"M36213","pmid":"","exactSource":"HP:0003196","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003196","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_NOSE","geneSymbols":["ABCC8","ABCD1","ABL1","ACTB","ADAMTSL2","ADAT3","ADNP","ADSL","AFF4","AGA","AGO1","ALDH6A1","ALG9","ANTXR1","APC","ARID1A","ARID1B","ARID2","ARSL","ASXL3","ATAD3A","ATP6V0A2","ATP6V1A","ATP6V1E1","ATRX","AVP","B3GALT6","B3GLCT","BAZ1B","BCAP31","BCL7B","BLTP1","BMP2","BMPER","BPNT2","BRAF","BRD4","BUB1B","BUD23","CACNA1G","CANT1","CASK","CAV1","CCDC22","CCDC88A","CD96","CDCA7","CDH11","CDKN1C","CDON","CEP57","CHST14","CHSY1","CLIP2","CLP1","COG7","COL11A1","COL11A2","COL2A1","COX7B","CREBBP","CTCF","DCPS","DDB1","DDR2","DDX3X","DEAF1","DHCR24","DIS3L2","DISP1","DLL1","DNAJC30","DNMT3B","DPF2","DPM2","DPYD","DPYSL5","DSE","DVL1","DVL3","DYRK1A","ECE1","EDA","EFTUD2","EHMT1","EIF4H","ELN","ERCC2","EXTL3","FAM20C","FAR1","FBN1","FGD1","FGF8","FGFR1","FGFR2","FKBP6","FLI1","FLII","FLNA","FLNB","FOXG1","FOXH1","FOXP1","FUT8","FZD2","GAS1","GATA4","GBA1","GGCX","GJA1","GLI2","GLI3","GLUL","GMNN","GNAI1","GNB2","GPC3","GPC4","GPC6","GRIN2A","GTF2I","GTF2IRD1","GTF2IRD2","GTPBP2","HDAC6","HDAC8","HECTD4","HEPACAM","HIC1","HNRNPK","HOXB1","HRAS","HSPA9","HUWE1","IARS2","IL1RAPL1","INPPL1","INTS1","IQSEC2","KCNJ11","KIF1A","KIF7","KMT2A","KRAS","LIFR","LIMK1","LMNB1","LONP1","LRP2","LRP4","LTBP3","MADD","MAF","MAP2K1","MAP2K2","MARS2","MBD5","MED13L","MEF2C","METTL27","MIR140","MLXIPL","MN1","MOCS1","MOCS2","MPLKIP","MTOR","MYH3","MYMK","MYMX","NAA10","NALCN","NARS2","NCAPG2","NCF1","NEDD4L","NEXMIF","NFIA","NFIX","NIPBL","NODAL","NPR2","NRAS","NRCAM","NXN","PAFAH1B1","PAICS","PAK3","PAM16","PARS2","PAX3","PDE4D","PDGFRB","PEPD","PEX6","PGAP2","PGAP3","PHIP","PIGF","PIGN","PIGO","PIGT","PIGU","PIGV","PLA2G6","PLAA","PLCB3","PLOD3","POLA1","POLR1A","POR","POU1F1","PPP1CB","PPP1R12A","PPP1R15B","PPP1R21","PPP2R5D","PRKAR1A","PRMT7","PRPS1","PTCH1","PTEN","PTH1R","PUF60","PURA","PUS1","PYCR2","RAB18","RAB3GAP1","RAB3GAP2","RAC3","RAD21","RAI1","RECQL4","RFC2","RFX7","RIPK4","RNF13","ROR2","RPS6KA3","RPS7","RSPRY1","SATB2","SC5D","SCN4A","SETBP1","SHH","SHOC2","SIN3A","SIX3","SLC12A6","SLC25A24","SLC26A2","SLC2A10","SLC35D1","SMARCA2","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SMC1A","SMC3","SMO","SMOC1","SNRPN","SON","SOX11","SOX4","SPECC1L","SPOP","SPTBN1","STAMBP","STX1A","SUFU","SYT1","TAPT1","TBC1D20","TBL1XR1","TBL2","TCF20","TCTN2","TCTN3","TDGF1","TGIF1","TMCO1","TMEM270","TMEM94","TONSL","TRIO","TRIP11","TRIP12","TRMT10A","TRRAP","TXNL4A","UBE3B","UBR1","USB1","VARS1","VPS33A","VPS35L","VPS37D","VPS53","WAC","WASHC5","WNT5A","WNT7A","YARS2","YWHAE","ZBTB24","ZIC2","ZMPSTE24","ZMYM2","ZNF462","ZNF699","ZNHIT3","ZPR1","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MYOPATHY":{"collection":"C5:HPO","systematicName":"M36214","pmid":"","exactSource":"HP:0003198","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003198","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MYOPATHY","geneSymbols":["ABCC9","ABHD5","ACACA","ACAD9","ACADM","ACADS","ACTA1","ACTC1","ACTN2","ADGRG6","ADSS1","AGK","AGL","AGRN","AK9","AKT1","ALDOA","ALG14","ALG2","ALPL","AMPD1","ANKRD1","ANO5","AP1S2","B3GALNT2","B4GALT1","BAG3","BAG5","BAZ1B","BCL7B","BIN1","BSCL2","BUD23","C1QBP","CACNA1S","CAP2","CAPN3","CASQ1","CASZ1","CAV3","CCDC174","CDON","CENPF","CFL2","CHAT","CHCHD10","CHKB","CHRNA1","CHRNB1","CHRND","CHRNE","CHST14","CISD2","CLIP2","COL12A1","COL13A1","COL6A1","COL6A2","COL6A3","COL9A1","COL9A2","COL9A3","COLQ","COMP","CPT2","CRPPA","CRYAB","CSRP3","CTNS","DES","DHX16","DISP1","DLL1","DMD","DNA2","DNAJB4","DNAJB6","DNAJC30","DNM1L","DNM2","DOK7","DOLK","DPAGT1","DPM3","DSE","DSG2","DSP","DYSF","EIF4H","ELN","EMD","EPG5","ERGIC1","FGF8","FGFR1","FHL1","FHL2","FKBP14","FKBP6","FKRP","FKTN","FLAD1","FLNC","FOXH1","FXR1","G6PC3","GABRD","GAS1","GATAD1","GCLC","GFER","GFPT1","GIPC1","GK","GLI2","GMPPB","GNE","GTF2I","GTF2IRD1","GTF2IRD2","GYG1","HADHA","HADHB","HAND2","HNRNPA1","HNRNPA2B1","HNRNPDL","HSPG2","INPP5K","ISCU","JAG2","JPH2","KBTBD13","KCNAB2","KLHL40","KLHL41","KLHL9","LAMA4","LAMB2","LAMP2","LARGE1","LDB3","LIMK1","LIPE","LMNA","LMNB2","LMOD2","LMOD3","LRP12","LRP4","LUZP1","MAN2B1","MATR3","MEGF10","METTL27","MGME1","MLXIPL","MMP23B","MSTO1","MT-ATP6","MT-CO1","MT-CO2","MT-CO3","MT-CYB","MT-ND1","MT-ND2","MT-ND4","MT-ND4L","MT-ND5","MT-ND6","MT-RNR1","MT-TC","MT-TE","MT-TF","MT-TH","MT-TI","MT-TK","MT-TL1","MT-TP","MT-TQ","MT-TS1","MT-TS2","MT-TT","MT-TV","MT-TW","MTAP","MTMR14","MTTP","MUSK","MYBPC1","MYBPC3","MYF6","MYH14","MYH2","MYH6","MYH7","MYMK","MYMX","MYO18B","MYO9A","MYOD1","MYOT","MYPN","NALCN","NARS2","NCF1","NDUFA11","NDUFAF1","NDUFAF4","NDUFB3","NDUFS2","NEB","NEFH","NEFL","NEXN","NODAL","NUBPL","OPA1","ORAI1","PABPN1","PANK2","PDPN","PGAM2","PGK1","PLEC","PLN","PLOD1","PNPLA2","POLG","POLG2","POLRMT","POMGNT1","POMT1","POMT2","PPARG","PPCS","PRDM16","PRKAG2","PRKCZ","PSEN1","PSEN2","PTCH1","PTEN","PUS1","RAF1","RAPSN","RBM20","RERE","RET","RFC2","RILPL1","RMND1","RPL3L","RRM2B","RYR1","SAR1B","SCN4A","SCN5A","SCO2","SDHA","SDHAF1","SDHB","SDHD","SELENON","SGCA","SGCB","SGCD","SGCG","SHH","SIL1","SIX3","SKI","SLC18A3","SLC22A5","SLC25A1","SLC25A3","SLC25A4","SLC5A7","SNAP25","SPEN","SQSTM1","STIM1","STX1A","SUFU","SVIL","SYNE1","SYNE2","SYT2","TAF1A","TAFAZZIN","TANGO2","TBCE","TBL2","TCAP","TDGF1","TGIF1","TIA1","TK2","TKFC","TMEM270","TMEM43","TMPO","TNNC1","TNNI3","TNNT1","TNNT2","TNPO3","TPI1","TPM1","TPM2","TPM3","TRAPPC11","TRIM32","TRIP4","TRMU","TTN","TWNK","TXNRD2","UBA1","UBE4B","UNC45B","UNC80","VAMP1","VCL","VCP","VEZF1","VMA21","VPS13A","VPS37D","VWA1","WFS1","XDH","XK","YARS2","ZBTB20","ZIC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DECREASED_MUSCLE_MASS":{"collection":"C5:HPO","systematicName":"M36215","pmid":"","exactSource":"HP:0003199","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003199","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_MUSCLE_MASS","geneSymbols":["AKT1","ALDOA","AP4E1","ATP6V0A2","ATP6V1A","ATP6V1E1","B4GALT1","BMP6","CHRNE","CHST14","COL12A1","COLQ","CPLX1","CTBP1","DSE","ECEL1","FARSA","FBN1","FGFRL1","FSHB","FUCA1","FUZ","G6PC1","GFPT1","GRB10","GYG1","HERC2","HFE","HSD17B4","LETM1","LIG3","LMX1B","MAGEL2","MAP3K7","MKRN3","MUSK","NOTCH3","NPAP1","NSD2","PANK2","PIEZO2","PLOD1","POLG","PTEN","PWAR1","PWRN1","PYCR1","RAB18","RRM2B","RUSC2","SLC9A6","SMS","SNORD115-1","SNORD116-1","SPARC","STRADA","TBC1D20","TGFB3","TRIM2","TYMP","VANGL1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RAGGED_RED_MUSCLE_FIBERS":{"collection":"C5:HPO","systematicName":"M36216","pmid":"","exactSource":"HP:0003200","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003200","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RAGGED_RED_MUSCLE_FIBERS","geneSymbols":["AFG3L2","AIFM1","ALG14","ALG2","BCS1L","CARS2","CHCHD10","COQ2","DGUOK","DPAGT1","EARS2","GFPT1","GMPPB","LIG3","MEGF10","MGME1","MIEF2","MT-ATP6","MT-ATP8","MT-CO1","MT-CO2","MT-CO3","MT-CYB","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND5","MT-ND6","MT-RNR1","MT-TC","MT-TE","MT-TF","MT-TH","MT-TI","MT-TK","MT-TL1","MT-TL2","MT-TN","MT-TP","MT-TQ","MT-TS1","MT-TS2","MT-TV","MT-TW","MYH7","NARS2","NDUFS4","NEFH","NUBPL","PABPN1","POLG","POLG2","PUS1","RNASEH1","RRM2B","SCN4A","SDHA","SLC25A26","SLC25A32","SLC25A4","SLC25A42","SPG7","SUCLG1","TK2","TRMU","TWNK","TYMP","UQCRQ","YARS2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RHABDOMYOLYSIS":{"collection":"C5:HPO","systematicName":"M36217","pmid":"","exactSource":"HP:0003201","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003201","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RHABDOMYOLYSIS","geneSymbols":["ACADVL","ALDOA","AMACR","AMPD1","ANO5","ATP5F1D","BCS1L","CACNA1S","CLCNKB","CPT2","CTDP1","DGUOK","FDX2","GABRA3","HADHA","HADHB","ISCU","KCNJ18","LDHA","LPIN1","MLIP","MT-CO1","MT-CO3","OBSCN","PGAM2","PGK1","PGM1","PHKB","POLG","PYGM","RYR1","SEPSECS","SLC12A3","SLC25A20","SLC25A42","SUCLG1","TANGO2","TNNT1","TRAPPC2L","TSEN15","TSEN2","TSEN34","TSEN54","TSFM","XK"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SKELETAL_MUSCLE_ATROPHY":{"collection":"C5:HPO","systematicName":"M36218","pmid":"","exactSource":"HP:0003202","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003202","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SKELETAL_MUSCLE_ATROPHY","geneSymbols":["AARS1","ABCA1","ABHD12","ACADM","ACADSB","ACTA1","ACTB","ACTN2","ADARB1","ADCY6","ADK","ADSL","ADSS1","AFG3L2","AGL","AGRN","AGTPBP1","AIFM1","AIMP1","AIP","AK9","ALDH18A1","ALS2","AMPD1","AMPD2","ANG","ANO5","ANTXR2","ANXA11","AP1S2","APTX","AR","ARL6","ARMC5","ARSI","ASAH1","ASCC1","ATAD3A","ATL1","ATL3","ATM","ATP13A2","ATP1A1","ATP7A","ATP8A2","ATRX","ATXN1","ATXN2","ATXN3","B3GALNT2","B4GALNT1","B4GALT7","B4GAT1","BAG3","BBIP1","BBS1","BBS10","BBS12","BBS2","BBS4","BBS5","BBS7","BBS9","BICD2","BIN1","BMP1","BRAF","BSCL2","BVES","C19orf12","C2orf69","C9orf72","CA8","CADM3","CAPN1","CAPN3","CARS1","CAV3","CCDC115","CCNF","CCT5","CD28","CD59","CDH23","CEP126","CEP19","CEP290","CFAP410","CFAP418","CHAT","CHCHD10","CHMP2B","CHN1","CHP1","CHRNA1","CHRNB1","CHRND","CHRNE","CHRNG","CNBP","CNTNAP1","COA7","COASY","COG7","COG8","COL12A1","COL13A1","COL25A1","COL2A1","COL4A1","COL6A1","COL6A2","COL6A3","COL7A1","COLQ","COMP","COQ2","CPLANE1","CPT1A","CPT1C","CRPPA","CTLA4","CTNS","CUL4B","CYP27A1","CYP7B1","DAG1","DALRD3","DAO","DARS2","DCAF8","DCTN1","DES","DGUOK","DHH","DHTKD1","DIAPH1","DMD","DNA2","DNAJB2","DNAJC19","DNM1L","DNM2","DNMT3B","DOK7","DPM3","DUX4","DUX4L1","DYNC1H1","DYSF","EGR2","EMD","ENTPD1","EPHA4","ERBB3","ERBB4","ERCC6","ERCC8","ERGIC1","ERLIN1","ERLIN2","EXOSC3","EXOSC8","EXOSC9","FAM111B","FARS2","FBLN5","FBXL4","FBXO38","FGD4","FHL1","FIG4","FITM2","FKBP14","FKRP","FKTN","FLNA","FLNC","FLRT1","FLVCR1","FOXP2","FRG1","FUS","FXN","GAN","GARS1","GBA2","GBE1","GBF1","GDAP1","GFPT1","GIPC1","GJB1","GLB1","GLE1","GLT8D1","GMPPB","GNAS","GNB4","GNE","GPR35","GYG1","H4C11","HARS1","HEXB","HINT1","HK1","HMGA2","HNRNPA1","HNRNPA2B1","HNRNPDL","HSPB1","HSPB3","HSPB8","HSPG2","HUWE1","HYCC1","IBA57","IDUA","IFRD1","IFT172","IFT27","IFT74","IGHMBP2","INF2","INPP5K","INSR","ISCU","ITGA7","ITPR3","JAG1","JAG2","JPH1","KANSL1","KAT6A","KBTBD13","KCNK9","KDM5C","KIF1A","KIF1B","KIF1C","KIF21A","KIF5A","KLC2","KLHL40","KLHL41","KLHL9","KRT14","KRT5","KY","LAMB2","LAMP2","LARGE1","LDB3","LEMD3","LETM1","LIMS2","LIPE","LITAF","LMNA","LMNB2","LMOD3","LRP12","LRP4","LRSAM1","LTBP4","LZTFL1","MAFB","MAG","MAP3K20","MARS1","MATR3","MB","MCCC2","MDH2","MECP2","MED25","MEGF10","MFN2","MGME1","MINPP1","MKKS","MKS1","MLIP","MME","MORC2","MPV17","MPZ","MRE11","MST1","MSTO1","MT-ATP8","MT-TE","MT-TL1","MTAP","MTMR14","MTMR2","MTRFR","MUSK","MYBPC1","MYH14","MYH3","MYH7","MYMK","MYMX","MYO9A","MYOD1","MYOT","MYPN","NAGA","NALCN","NARS2","NBN","NDE1","NDRG1","NDUFA12","NDUFA8","NDUFA9","NDUFAF6","NDUFB8","NDUFS2","NDUFS4","NEB","NEFH","NEFL","NEK1","NEMF","NEU1","NEXMIF","NGLY1","NIPA1","NOP56","NOTCH2NLC","NPHP1","NPPA","NR3C1","NT5C2","NUP88","OGDH","OPA1","OPTN","PAX7","PDK3","PDXK","PEX10","PEX5","PEX6","PEX7","PFKM","PFN1","PGAP1","PHF6","PHKA1","PHKA2","PHKB","PHKG2","PHYH","PIEZO2","PIGA","PIK3R2","PIK3R5","PIP5K1C","PLEC","PLEKHG5","PLOD3","PLP1","PLXND1","PMP2","PMP22","PNKP","PNPLA2","PNPLA6","PNPT1","POGLUT1","POLG","POLR2A","POLR3A","POLRMT","POMGNT1","POMGNT2","POMK","POMT1","POMT2","PON1","PON2","PON3","PPARGC1A","PRPH","PRPS1","PRUNE1","PRX","PSMB8","PSMG2","PTEN","PTRH2","PUS1","PYCR2","PYGM","PYROXD1","RAB7A","RAI1","RAPSN","RBCK1","RBM28","RECQL","REEP1","RETREG1","REV3L","RILPL1","RNASEH1","RNF170","RPS6KA3","RRM2B","RTN2","RXYLT1","RYR1","RYR3","SACS","SALL4","SBF1","SBF2","SCAPER","SCLT1","SCN4A","SCN5A","SCN9A","SCO2","SCYL1","SCYL2","SDCCAG8","SDHA","SDHAF1","SDHB","SDHD","SELENON","SEMA4D","SEPTIN9","SETX","SFXN4","SGCA","SGCB","SGCD","SGCG","SH3TC2","SIGMAR1","SIL1","SLC12A6","SLC16A2","SLC18A3","SLC25A1","SLC25A19","SLC25A21","SLC25A4","SLC25A46","SLC33A1","SLC39A13","SLC46A1","SLC52A2","SLC52A3","SLC5A6","SLC5A7","SLC7A7","SLC9A6","SMCHD1","SMN1","SMN2","SMPD1","SNAP25","SOD1","SOX10","SPART","SPAST","SPEG","SPG11","SPRTN","SPTBN4","SPTLC1","SPTLC2","SQSTM1","STAC3","STAT1","STIM1","STING1","STUB1","SUCLA2","SUCLG1","SURF1","SVBP","SYNE1","SYNE2","SYT2","TAF15","TARDBP","TBC1D23","TBCD","TBCE","TBCK","TBK1","TCAP","TCF4","TDP1","TFG","TGFB1","TIA1","TIMM8A","TIMMDC1","TK2","TMEM43","TMTC3","TNFRSF1B","TNNT1","TNR","TNXB","TOE1","TOR1AIP1","TP53","TPI1","TPM2","TPM3","TRAPPC11","TREM2","TRIM2","TRIM32","TRIP4","TRPV4","TTC19","TTC8","TTN","TTPA","TUBA1A","TUBB2B","TWNK","TYMP","UBA1","UBAP1","UBQLN2","UNC13A","UNC45B","USP48","USP8","VAMP1","VAPB","VCP","VLDLR","VMA21","VPS13A","VPS13D","VRK1","VWA1","WARS1","WARS2","WASHC5","WDPCP","WDR81","WNK1","WRN","YARS1","YARS2","YY1","ZBTB20","ZC4H2","ZFYVE26"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_IMPAIRED_OXIDATIVE_BURST":{"collection":"C5:HPO","systematicName":"M36219","pmid":"","exactSource":"HP:0003203","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003203","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRED_OXIDATIVE_BURST","geneSymbols":["CYBA","CYBB","CYBC1","IRF8","NCF1","NCF2","RAC2","SPPL2A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CURVILINEAR_INTRACELLULAR_ACCUMULATION_OF_AUTOFLUORESCENT_LIPOPIGMENT_STORAGE_MATERIAL":{"collection":"C5:HPO","systematicName":"M47073","pmid":"","exactSource":"HP:0003205","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003205","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CURVILINEAR_INTRACELLULAR_ACCUMULATION_OF_AUTOFLUORESCENT_LIPOPIGMENT_STORAGE_MATERIAL","geneSymbols":["CLN3","CLN5","CLN6","CLN8","DNAJC5","NDRG1","TPP1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FINGERPRINT_INTRACELLULAR_ACCUMULATION_OF_AUTOFLUORESCENT_LIPOPIGMENT_STORAGE_MATERIAL":{"collection":"C5:HPO","systematicName":"M36222","pmid":"","exactSource":"HP:0003208","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003208","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FINGERPRINT_INTRACELLULAR_ACCUMULATION_OF_AUTOFLUORESCENT_LIPOPIGMENT_STORAGE_MATERIAL","geneSymbols":["CLN3","CLN5","CLN6","CLN8","DNAJC5","KCTD7"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DECREASED_METHYLMALONYL_COA_MUTASE_ACTIVITY":{"collection":"C5:HPO","systematicName":"M36223","pmid":"","exactSource":"HP:0003210","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003210","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_METHYLMALONYL_COA_MUTASE_ACTIVITY","geneSymbols":["MMAA","MMAB","MMACHC","MMADHC","PRDX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DEFICIENT_EXCISION_OF_UV_INDUCED_PYRIMIDINE_DIMERS_IN_DNA":{"collection":"C5:HPO","systematicName":"M46083","pmid":"","exactSource":"HP:0003213","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003213","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEFICIENT_EXCISION_OF_UV_INDUCED_PYRIMIDINE_DIMERS_IN_DNA","geneSymbols":["ERCC4","FANCA","FANCC","FANCD2","FANCE"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DICARBOXYLIC_ACIDURIA":{"collection":"C5:HPO","systematicName":"M36224","pmid":"","exactSource":"HP:0003215","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003215","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DICARBOXYLIC_ACIDURIA","geneSymbols":["ABCD4","ACAD8","ACAD9","ACADM","ACADS","ACADVL","ACSF3","ALAD","ALDH6A1","CA5A","CD320","COX16","CPOX","CPT1A","CPT2","D2HGDH","DHTKD1","ETFA","ETFB","ETFDH","ETHE1","FH","FTCD","GATA1","GCDH","HADH","HCFC1","HMBS","HMGCL","HPD","HSPD1","IDH1","IDH2","L2HGDH","LETM1","LMBRD1","MCEE","MLYCD","MMAA","MMAB","MMACHC","MMADHC","MMUT","MTR","MTRR","NDUFS4","NFU1","PEX14","POLG","PPOX","PRDX1","SCO1","SFXN4","SLC13A3","SLC22A5","SLC25A1","SLC25A20","SLC52A1","SUCLA2","SUCLG1","SUGCT","TCN2","TRMU","UROS"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_GENERALIZED_AMYLOID_DEPOSITION":{"collection":"C5:HPO","systematicName":"M36225","pmid":"","exactSource":"HP:0003216","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003216","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENERALIZED_AMYLOID_DEPOSITION","geneSymbols":["APOA1","B2M","CST3","FGA","GSN","LYZ"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPERGLUTAMINEMIA":{"collection":"C5:HPO","systematicName":"M36226","pmid":"","exactSource":"HP:0003217","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003217","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERGLUTAMINEMIA","geneSymbols":["ASL","ASS1","CA5A","COX16","GLS","LIPT1","NAGS","OTC","SLC7A7"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_OROTICACIDURIA":{"collection":"C5:HPO","systematicName":"M36227","pmid":"","exactSource":"HP:0003218","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003218","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OROTICACIDURIA","geneSymbols":["ARG1","ASL","ASS1","ATP5F1A","CAD","OTC","SLC25A15","SLC7A7","UMPS"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ETHYLMALONIC_ACIDURIA":{"collection":"C5:HPO","systematicName":"M36228","pmid":"","exactSource":"HP:0003219","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003219","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ETHYLMALONIC_ACIDURIA","geneSymbols":["ACADS","COX16","ETFA","ETFB","ETFDH","ETHE1","HSPD1","POLG","SUCLG1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_CHROMOSOME_STABILITY":{"collection":"C5:HPO","systematicName":"M36229","pmid":"","exactSource":"HP:0003220","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003220","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_CHROMOSOME_STABILITY","geneSymbols":["AKT1","ATM","BAP1","BLM","BRCA1","BRCA2","BRIP1","CDCA7","CENATAC","COX4I1","DCLRE1B","DNAJC21","DNMT3B","ERCC4","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FMR1","HELLS","LIG4","MAD2L2","MCM4","NBN","NF2","PALB2","PDGFB","PIK3CA","RAD50","RAD51","RAD51C","RFWD3","RMRP","RNF168","SLX4","SMARCB1","SMARCE1","SMO","SUFU","TCN2","TERT","TINF2","TMEM185A","TOP3A","TRAF7","UBE2T","XRCC2","XRCC4","ZBTB24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CHROMOSOMAL_BREAKAGE_INDUCED_BY_CROSSLINKING_AGENTS":{"collection":"C5:HPO","systematicName":"M36230","pmid":"","exactSource":"HP:0003221","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003221","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHROMOSOMAL_BREAKAGE_INDUCED_BY_CROSSLINKING_AGENTS","geneSymbols":["BRCA2","BRIP1","COX4I1","DCLRE1B","FANCA","FANCC","FANCD2","FANCE","FANCF","FANCI","FANCL","MAD2L2","PALB2","RAD51","SLX4","UBE2T"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DECREASED_METHYLCOBALAMIN":{"collection":"C5:HPO","systematicName":"M36231","pmid":"","exactSource":"HP:0003223","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003223","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_METHYLCOBALAMIN","geneSymbols":["ABCD4","LMBRD1","MMACHC","MMADHC","MTHFD1","MTR","MTRR","PRDX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPERNATREMIA":{"collection":"C5:HPO","systematicName":"M36232","pmid":"","exactSource":"HP:0003228","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003228","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERNATREMIA","geneSymbols":["AQP2","ARNT2","AVPR2","CA5A","DSG1","FGFR1","SLC5A1","SYK"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPERMETHIONINEMIA":{"collection":"C5:HPO","systematicName":"M36234","pmid":"","exactSource":"HP:0003235","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003235","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERMETHIONINEMIA","geneSymbols":["ADK","AHCY","CBS","FAH","GNMT","MAT1A","SKIC3","SLC25A13","TFAM"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INCREASED_CIRCULATING_IGG_LEVEL":{"collection":"C5:HPO","systematicName":"M36235","pmid":"","exactSource":"HP:0003237","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003237","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_CIRCULATING_IGG_LEVEL","geneSymbols":["CARD10","CASP10","CCND1","CD247","DOCK8","FAS","FASLG","IFIH1","IFNGR1","IKBKG","IL2RB","IL2RG","IL7R","IPO8","NCKAP1L","NFKBIA","NLRP1","PGM3","POMP","PRKCD","PSMB8","RASGRP1","STING1","TGFB1","TPP2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_EXTERNAL_GENITAL_HYPOPLASIA":{"collection":"C5:HPO","systematicName":"M36236","pmid":"","exactSource":"HP:0003241","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003241","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EXTERNAL_GENITAL_HYPOPLASIA","geneSymbols":["ABCA4","ACTA1","ACTB","ADAR","ADAT3","AGBL5","AHI1","AHR","ALG12","ALKBH8","ALMS1","ALOX12B","ALOXE3","ALX4","ANK1","ANOS1","AR","ARCN1","ARHGEF18","ARID1B","ARL2BP","ARL3","ARL6","ARNT2","ARX","ATAD3A","ATP6V1A","ATP6V1E1","ATRX","AXL","B3GALNT2","B3GLCT","B4GAT1","B9D2","BAZ1B","BBIP1","BBS1","BBS10","BBS12","BBS2","BBS4","BBS5","BBS7","BBS9","BCL7B","BEST1","BLTP1","BMP4","BRCC3","BRD4","BUB1B","BUD23","C2CD3","CA4","CAMK2A","CASK","CASZ1","CATIP","CC2D2A","CCDC141","CCDC22","CCDC28B","CCDC34","CCNQ","CDC42BPB","CDC45","CDC6","CDH11","CDH2","CDHR1","CDKL5","CDKN1C","CDON","CDT1","CENPT","CEP112","CEP19","CEP290","CEP41","CERKL","CFAP418","CFTR","CHD4","CHD7","CHRM3","CHRNG","CILK1","CLIP2","CLRN1","CNGA1","CNGB1","COG5","COL4A1","COLEC10","COX7B","CPE","CRB1","CRPPA","CRX","CT55","CTCF","CTDP1","CTU2","CUL4B","CUL7","CYB5A","CYP11A1","CYP11B1","CYP17A1","DACT1","DAG1","DAZ1","DAZ2","DAZ3","DAZ4","DCAF17","DCC","DCX","DDB2","DDX3Y","DDX6","DHCR7","DHDDS","DHODH","DHX37","DHX38","DIS3L2","DISP1","DKC1","DLK1","DLL1","DMRT3","DMXL2","DNAH10","DNAJC19","DNAJC30","DNHD1","DPM1","DPM2","DPYSL5","DTYMK","DUSP6","DVL1","DVL3","DYNC2H1","DYNC2I1","DYNC2I2","DYRK1A","EBF3","ECE1","ECEL1","EED","EHMT1","EIF2S3","EIF4H","ELN","ERCC2","ERCC3","ERCC4","ERCC5","ERCC6","ERCC8","ESR2","EXT2","EYS","EZH2","FAM111A","FAM161A","FANCB","FANCD2","FANCF","FANCL","FANCM","FARSB","FAT4","FBN1","FBXO43","FEZF1","FGF17","FGF8","FGFR1","FGFR2","FIG4","FKBP6","FKRP","FKTN","FLRT3","FMR1","FOXA2","FOXH1","FRAS1","FREM2","FSCN2","FSHB","FXR1","FZD2","GABRD","GAD1","GAS1","GATA4","GBA2","GH1","GHR","GLI2","GLI3","GLYCTK","GMNN","GMPPB","GNAO1","GNB2","GNRH1","GNRHR","GPC3","GPC4","GPR161","GRIA3","GRIN1","GRIP1","GRM7","GTF2I","GTF2IRD1","GTF2IRD2","GUCA1B","H4C9","HCCS","HDAC8","HERC1","HERC2","HESX1","HGSNAT","HID1","HMGA2","HNRNPR","HOXA13","HOXD13","HS6ST1","HSD3B2","HSPG2","HUWE1","IDH3A","IDH3B","IER3IP1","IFIH1","IFT140","IFT172","IFT27","IFT74","IFT80","IFT88","IGF2","IL17RD","IMPDH1","IMPG1","IMPG2","INPP5E","INPP5K","INTU","IRF6","ISL1","KAT6B","KATNIP","KCNA1","KCNAB2","KCNJ6","KDM5C","KDM6A","KIAA0586","KIAA0753","KIAA1549","KIF7","KISS1","KISS1R","KIZ","KLF1","KLHL10","KLHL15","KLHL40","KLHL41","KLHL7","KMT2D","LAMA5","LARGE1","LEP","LEPR","LHB","LHCGR","LHX4","LIG4","LIMK1","LMNA","LMNB2","LMOD3","LMX1B","LRAT","LSM11","LSS","LUZP1","LZTFL1","MADD","MAGEL2","MAK","MAMLD1","MAP3K1","MAP3K7","MAPRE2","MBD5","MBTPS2","MCM8","MCTP2","MED12","MEG3","MEGF8","MEIOB","MERTK","METTL27","MID1","MINPP1","MKKS","MKRN3","MKS1","MLXIPL","MMP23B","MNX1","MOGS","MOV10L1","MSH5","MTM1","MYH3","MYRF","NAA10","NANOS1","NCF1","NDN","NDNF","NDUFB11","NEB","NECTIN1","NEK1","NEK2","NEUROD2","NHLH2","NIPBL","NODAL","NPAP1","NPHP1","NR0B1","NR2E3","NR5A1","NRL","NSD1","NSMF","NXN","OCA2","OFD1","OGT","OPHN1","ORC1","ORC4","ORC6","OTUD5","OTX2","PAFAH1B1","PBX1","PCARE","PDE6A","PDE6B","PDE6G","PDHA2","PDPN","PEX1","PEX6","PHF21A","PHF6","PHF8","PHGDH","PIEZO2","PIGA","PIGP","PIGQ","PLAG1","PMM2","PNKP","PNLDC1","PNPLA6","POC1A","POLA1","POLE","POLR1B","POLR1C","POLR1D","POMGNT1","POMGNT2","POMK","POMT1","POMT2","POR","PORCN","POU1F1","PPP1R12A","PPP2R3C","PQBP1","PRCD","PRDM13","PRDM16","PRKCZ","PRKDC","PROK2","PROKR2","PROM1","PROP1","PRPF3","PRPF31","PRPF4","PRPF6","PRPF8","PRPH2","PRRX1","PSMC1","PSMD12","PTCH1","PTDSS1","PTPN11","PWAR1","PWRN1","RAB18","RAB23","RAB3GAP1","RAB3GAP2","RAC3","RAD21","RAD51C","RBMY1A1","RBP3","RDH12","REEP6","RERE","RFC2","RFX7","RGR","RHO","RIPK4","RLBP1","RLIM","RNASEH2A","RNASEH2B","RNASEH2C","RNF113A","RNF212","RNU4ATAC","RNU7-1","ROBO1","ROM1","ROR2","RP1","RP1L1","RP2","RP9","RPE65","RPGR","RPL10","RPL10L","RSPO1","RSPO2","RTL1","RTTN","RXYLT1","RYR1","SAG","SALL1","SAMD9","SAMHD1","SATB2","SC5D","SCAPER","SCLT1","SCN1B","SCN2A","SDCCAG8","SEMA3A","SEMA3E","SEMA4A","SETBP1","SGPL1","SHH","SHOC1","SIK1","SIL1","SIM1","SIN3A","SIX3","SIX6","SKI","SLC25A22","SLC25A24","SLC29A3","SLC32A1","SLC39A4","SLC7A14","SMAD4","SMARCA2","SMC1A","SMC3","SMCHD1","SMO","SNORD115-1","SNORD116-1","SNRNP200","SNRPN","SOHLH1","SOX10","SOX2","SOX3","SOX9","SPAG17","SPATA7","SPEN","SPRY4","SPTBN1","SRA1","SRD5A2","SRY","STAG1","STAG3","STT3A","STT3B","STX1A","STXBP1","SUFU","SUZ12","SYCE1","SYCP3","TAC3","TACR3","TAF4B","TAPT1","TBC1D20","TBCE","TBL1XR1","TBL2","TBX3","TCF12","TCF4","TCOF1","TCTN3","TDGF1","TDRD9","TERB1","TERB2","TEX11","TEX14","TEX15","TGIF1","THOC2","THOC6","TMEM216","TMEM270","TOE1","TOGARAM1","TOPORS","TP63","TREX1","TRIM32","TRIM8","TRPM3","TRRAP","TSPY1","TSPYL1","TTC8","TUB","TUBB","TULP1","TWIST2","TYMS","UBA1","UBE2A","UBE3B","UBE4B","UBR1","UBR7","USH2A","USP7","USP9Y","VAC14","VAMP7","VPS35L","VPS37D","WASHC5","WDPCP","WDR11","WDR35","WNT5A","WNT7A","WT1","WWOX","XPA","XPC","XRCC2","XRCC4","YWHAE","ZEB2","ZFPM2","ZIC2","ZMPSTE24","ZMYND15","ZNF408","ZNF513","ZPR1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_OVERGROWTH_OF_EXTERNAL_GENITALIA":{"collection":"C5:HPO","systematicName":"M36237","pmid":"","exactSource":"HP:0003247","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003247","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OVERGROWTH_OF_EXTERNAL_GENITALIA","geneSymbols":["AGPAT2","BSCL2","CAV1","CAVIN1","CDKN1C","FOS","IGF2","INSR","KCNQ1","KCNQ1OT1","PPARG"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_DNA_REPAIR":{"collection":"C5:HPO","systematicName":"M36239","pmid":"","exactSource":"HP:0003254","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003254","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_DNA_REPAIR","geneSymbols":["AARS1","CARS1","DDB2","ERCC2","ERCC3","ERCC4","ERCC5","ERCC6","FANCA","FANCC","FANCD2","FANCE","GTF2E2","GTF2H5","MPLKIP","RNF113A","TARS1","XPA","XPC"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_COAGULATION_CASCADE":{"collection":"C5:HPO","systematicName":"M36240","pmid":"","exactSource":"HP:0003256","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003256","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_COAGULATION_CASCADE","geneSymbols":["ACAD9","ADK","AGA","AHCY","AKR1D1","ALDOB","ALG12","ALG2","ALG6","ALG8","AMACR","ANK1","ANO6","ATP6V0A2","ATP6V1A","ATP6V1E1","B4GALT1","BCOR","BRAF","CACNA1S","CD46","CFH","CFI","CLPB","COG2","COG4","COG8","COX16","CYP7B1","DDOST","DPAGT1","DPM1","DPM2","EFL1","EPB42","F10","F11","F12","F13A1","F13B","F2","F5","F7","F8","F9","FAH","FGA","FGB","FGG","FIP1L1","FLNA","FOXP2","GFI1B","GGCX","GNA14","GNE","GP1BA","GP1BB","GP6","GP9","GPR35","HADH","HAVCR2","HELLPAR","HLA-DQA1","HLA-DQB1","HMGCL","HRG","HSD17B10","HSD3B7","IKZF5","IRF2BP2","ITGA2B","ITGB2","ITGB3","KNG1","LARS1","LMAN1","LYST","LZTR1","MAP2K1","MCFD2","MCM10","MGAT2","MICOS13","MPDU1","MPI","MST1","MTTP","NABP1","NBAS","NBEAL2","NGLY1","NLRC4","NPM1","NR1H4","NUMA1","OSTM1","OTC","PET100","PGM1","PLG","PLOD3","PML","PMM2","PRF1","PRKAR1A","PROC","PROS1","PTPN11","RARA","RFT1","RINT1","RYR1","SEMA4D","SERAC1","SERPINC1","SERPINE1","SLC25A13","SLC25A15","SLC30A10","SLC37A4","SLC4A1","SLC7A7","SOS1","SOS2","SPTA1","SPTB","SRD5A3","SSR4","STAT3","STAT5B","STX11","STXBP2","TBL1XR1","TCF4","TNFRSF9","TRMU","UNC13D","VKORC1","VWF","XIAP","ZBTB16"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYDROXYPROLINEMIA":{"collection":"C5:HPO","systematicName":"M47074","pmid":"","exactSource":"HP:0003260","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003260","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYDROXYPROLINEMIA","geneSymbols":["SLC36A2","SLC6A18","SLC6A19","SLC6A20","TNFRSF11B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INCREASED_CIRCULATING_IGA_LEVEL":{"collection":"C5:HPO","systematicName":"M36241","pmid":"","exactSource":"HP:0003261","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003261","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_CIRCULATING_IGA_LEVEL","geneSymbols":["CARD10","CASP10","CCND1","CD247","CD40LG","FAS","FASLG","GTF2H5","IKBKG","IL12A","IL12RB1","IL7R","IRF5","MMEL1","MVK","NLRP1","OTULIN","PGM3","POMP","POU2AF1","PRKCD","PSMB8","RASGRP1","SPIB","STING1","TNFSF15","TNPO3","WAS"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SMOOTH_MUSCLE_ANTIBODY_POSITIVITY":{"collection":"C5:HPO","systematicName":"M41279","pmid":"","exactSource":"HP:0003262","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003262","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SMOOTH_MUSCLE_ANTIBODY_POSITIVITY","geneSymbols":["CASP10","CD247","COL4A5","COL4A6","FAS","FASLG","ITCH"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NEONATAL_HYPERBILIRUBINEMIA":{"collection":"C5:HPO","systematicName":"M36242","pmid":"","exactSource":"HP:0003265","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003265","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEONATAL_HYPERBILIRUBINEMIA","geneSymbols":["CPOX","DUOX2","DUOXA2","EPB41","FBP1","GPX1","GYPC","IGF1","IYD","KCNN4","PAFAH1B1","PIEZO1","PNPLA6","SLC35A2","SLC4A1","SLC5A5","SPTA1","SPTB","TG","TPO","TSHB","TSHR","UBE2A","UGT1A1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABDOMINAL_DISTENTION":{"collection":"C5:HPO","systematicName":"M36243","pmid":"","exactSource":"HP:0003270","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003270","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABDOMINAL_DISTENTION","geneSymbols":["ACTG2","AGR2","ALAD","ALDOB","ALG8","ANK1","ANO1","ARSA","ATP1A2","ATP1A3","ATP7B","BMPER","BRCA1","C2orf69","CACNA1A","CLMP","COL11A1","COL11A2","COL2A1","COX11","CYP27B1","CYP2R1","DDRGK1","DHCR7","DICER1","DLK1","DLL3","DYM","DYNC2H1","DYNC2I1","DYNC2I2","EPB42","EPCAM","EPHB4","EWSR1","FBN1","FGFR3","FLI1","FLNA","FLNB","FOCAD","FOXE1","FREM2","FSHR","G6PC1","GBA1","GNE","GNPTAB","GUSB","HLA-DQA1","HLA-DQB1","HMBS","IDUA","IFT122","IFT52","IFT80","IL12A","IL12RB1","INPPL1","INSR","IPO8","IRAK1","IRF5","ITGA6","ITGB4","KAT6A","KIAA0753","KRT18","LBR","LIG3","LIPA","LMOD1","LRP5","LYSET","MEG3","MESP2","MMEL1","MNX1","MPV17","MTOR","MYH11","MYL9","MYLK","MYO5B","NKX2-1","NKX2-5","NKX3-2","NPHS1","PAX8","PERCC1","PI4KA","PLEC","POLG","POLG2","POU2AF1","PRKCSH","PSAP","PSAT1","PSMB8","PTH1R","PYGL","RET","RRM2B","RTL1","SAR1B","SAT1","SEC63","SI","SLC1A3","SLC26A2","SLC26A3","SLC26A4","SLC2A2","SLC35D1","SLC37A4","SLC4A1","SLC5A1","SLC9A3","SMARCAL1","SMPD1","SPIB","SPINT2","SPP1","SPTA1","SPTB","STAT4","STX3","TCTN2","TFAM","TNFSF15","TNPO3","TREH","TRIP11","TRMU","TSHR","TTC26","TTC7A","TXNDC15","TYMP","VDR","WDR35","WT1","ZEB2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HIP_CONTRACTURE":{"collection":"C5:HPO","systematicName":"M36244","pmid":"","exactSource":"HP:0003273","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003273","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HIP_CONTRACTURE","geneSymbols":["ACTA1","APC2","BICD2","BIN1","COL25A1","COL2A1","ERCC8","ERGIC1","ERLIN2","F8","FBN2","FKBP10","GARS1","GNB2","GNPTAB","HACD1","HS2ST1","HSPG2","ITGA7","KAT6B","LGI4","LMNA","MAP3K20","MAP3K7","MMP2","MUSK","MYH3","MYL1","MYL11","MYL2","NALCN","NFATC2","NSD1","P4HTM","PI4KA","PIGA","PIGY","PNPT1","PTH1R","RMRP","RNU4ATAC","RYR1","SCN4A","SCYL2","SELENON","SETD2","SLC10A7","SLC26A2","SLC6A9","SPEG","TELO2","TNNT1","TPM2","TPM3","TRPV4","TTN","UBA1","UNC80","ZBTB20","ZC4H2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NARROW_PELVIS_BONE":{"collection":"C5:HPO","systematicName":"M36245","pmid":"","exactSource":"HP:0003275","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003275","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NARROW_PELVIS_BONE","geneSymbols":["BGN","BMPER","FGFR2","IDUA","PCNT","POR","PTH1R","RSPRY1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LOW_ALKALINE_PHOSPHATASE":{"collection":"C5:HPO","systematicName":"M36246","pmid":"","exactSource":"HP:0003282","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003282","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOW_ALKALINE_PHOSPHATASE","geneSymbols":["ABL1","ALPL","BCR","C18orf32","CEBPE","LIPA","PIGK","PIGS","PIGT","SLC39A4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CYSTATHIONINEMIA":{"collection":"C5:HPO","systematicName":"M41280","pmid":"","exactSource":"HP:0003286","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003286","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CYSTATHIONINEMIA","geneSymbols":["CTH","LMBRD1","MMACHC","MTHFR","PRDX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DECREASED_SERUM_LEPTIN":{"collection":"C5:HPO","systematicName":"M46085","pmid":"","exactSource":"HP:0003292","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003292","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_SERUM_LEPTIN","geneSymbols":["AGPAT2","AKT2","BANF1","BSCL2","CIDEC","KCNJ6","LEP","LEPR","LIPE","LMNA","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPERLYSINURIA":{"collection":"C5:HPO","systematicName":"M47075","pmid":"","exactSource":"HP:0003297","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003297","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERLYSINURIA","geneSymbols":["AASS","NADK2","SLC3A1","SLC7A7","SLC7A9"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SPINA_BIFIDA_OCCULTA":{"collection":"C5:HPO","systematicName":"M36247","pmid":"","exactSource":"HP:0003298","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003298","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPINA_BIFIDA_OCCULTA","geneSymbols":["ACTB","AMER1","ARID1B","ATP6V1B2","B3GLCT","BAZ1B","BCL7B","BICD2","BMP2","BRAF","BUD23","CCBE1","CCL2","CCNQ","CDK13","CHN1","CHRNG","CLIP2","COL18A1","COLEC10","COLEC11","CREBBP","CUL7","DACT1","DARS1","DLL3","DNAJC30","EIF4H","ELN","EP300","FIBP","FKBP6","FLNA","FLNB","FUZ","GTF2I","GTF2IRD1","GTF2IRD2","HES7","HMX1","IKBKG","IRF6","KCNH1","LFNG","LIG4","LIMK1","MAFB","MAP3K7","MASP1","MESP2","METTL27","MLXIPL","MYH3","NCF1","NEK9","NOTCH2NLC","NSUN2","POLA1","PORCN","PTDSS1","PTPN11","PUF60","RAB23","RAF1","RECQL4","RFC2","RIPPLY2","RORA","RPS19","RUNX2","SALL4","STX1A","TBC1D24","TBL2","TBX6","TBXT","TMEM270","TNXB","VANGL1","VANGL2","VPS37D","WBP11","ZIC1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_OVOID_VERTEBRAL_BODIES":{"collection":"C5:HPO","systematicName":"M36248","pmid":"","exactSource":"HP:0003300","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003300","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OVOID_VERTEBRAL_BODIES","geneSymbols":["ABCC9","ARSB","B3GALT6","COL2A1","COMP","DNAJC21","FBN1","FN1","FUCA1","GALNS","GLB1","GNPTAB","GNS","HGSNAT","IHH","KCNJ8","LBR","LIFR","LTBP1","LTBP3","MATN3","NAGLU","NPR2","PCYT1A","POP1","SBDS","SGSH","SLC35D1","SMARCAL1","SRP54","TBX15","UBE3B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_IRREGULAR_VERTEBRAL_ENDPLATES":{"collection":"C5:HPO","systematicName":"M36249","pmid":"","exactSource":"HP:0003301","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003301","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IRREGULAR_VERTEBRAL_ENDPLATES","geneSymbols":["ACP5","B3GALT6","CCN6","CHST3","COG4","COL10A1","COL2A1","COL9A1","COL9A2","COL9A3","COMP","EIF2AK3","EXOC6B","GNPAT","GORAB","IDH1","KIF22","MMP13","NANS","PAPSS2","PDE4D","POLR3A","RNU4ATAC","SLC10A7","SLC29A3","SLC39A13","TCIRG1","TNFRSF11A","TRAPPC2","ZBTB20"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SPONDYLOLISTHESIS":{"collection":"C5:HPO","systematicName":"M36250","pmid":"","exactSource":"HP:0003302","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003302","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPONDYLOLISTHESIS","geneSymbols":["AGA","BMP2","COL2A1","CTSK","FBN1","IDUA","KANSL1","LMX1B","MAN2B1","MYH3","PABPN1","RUNX2","SMAD3","TGFB2","TGFB3","TGFBR2","ZNF469"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SPONDYLOLYSIS":{"collection":"C5:HPO","systematicName":"M36251","pmid":"","exactSource":"HP:0003304","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003304","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPONDYLOLYSIS","geneSymbols":["AGA","CTSK","FLNA","FLNB","LMX1B","RUNX2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BLOCK_VERTEBRAE":{"collection":"C5:HPO","systematicName":"M46086","pmid":"","exactSource":"HP:0003305","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003305","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BLOCK_VERTEBRAE","geneSymbols":["DLL3","FLNB","HES7","MESP2","SF3B2","ZIC3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SPINAL_RIGIDITY":{"collection":"C5:HPO","systematicName":"M36252","pmid":"","exactSource":"HP:0003306","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003306","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPINAL_RIGIDITY","geneSymbols":["ACTA1","ACVR1","AGRN","BAG3","CAPN3","CAVIN1","CFL2","CHAT","COL12A1","COL13A1","COL2A1","COL6A1","COL6A2","COL6A3","DES","DNAJB4","DYSF","EMD","ERLIN2","FHL1","FKTN","HSPG2","INPP5K","JAG2","KBTBD13","KLHL41","KY","LMNA","LMOD3","MGME1","MYBPC1","MYH7","MYMK","MYO9A","MYPN","NEB","ORAI1","POMT1","POMT2","PYROXD1","SCN4A","SELENON","SLC18A3","SLC25A1","SLC5A7","SNAP25","SYNE1","SYNE2","SYT2","TMEM43","TNNT1","TNPO3","TOR1AIP1","TPM2","TPM3","TRIP4","TTN","VAMP1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPERLORDOSIS":{"collection":"C5:HPO","systematicName":"M36253","pmid":"","exactSource":"HP:0003307","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003307","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERLORDOSIS","geneSymbols":["ABCC9","ACAN","ACP5","ACTA1","ADAMTS10","ADNP","ALG14","ALG2","ALX3","AMER1","AP1G1","ARSB","ARSK","ASH1L","BAZ1B","BCL7B","BCOR","BCR","BGN","BICD2","BIN1","BUD23","CANT1","CAPN3","CAVIN1","CCDC8","CCN6","CFL2","CHST11","CHST3","CLCF1","CLIP2","COL10A1","COL11A2","COL12A1","COL1A2","COL27A1","COL2A1","COL6A1","COL6A2","COL6A3","COLEC10","COLEC11","COLQ","COMP","CRKL","CSGALNACT1","CTSK","CUL7","DAG1","DDRGK1","DMD","DNA2","DNAJC30","DNM2","DNMT3B","DPAGT1","DUX4","DUX4L1","DYM","DYSF","ECEL1","EIF2AK3","EIF4H","ELN","EMD","EXTL3","FBN1","FGFR2","FGFR3","FHL1","FKBP6","FKRP","FKTN","FLNB","FN1","FRG1","FUCA1","GALNS","GARS1","GFPT1","GLB1","GMPPB","GNB2","GNPTG","GSC","GTF2I","GTF2IRD1","GTF2IRD2","H4C5","HACD1","HACE1","HERC1","HNRNPA1","HNRNPA2B1","HNRNPH2","HSPG2","IARS2","IHH","INPP5K","ITCH","ITGA7","KANSL1","KIF1A","KLHL41","KNSTRN","KY","L1CAM","LAMA2","LBR","LIMK1","LIPE","LMNA","LMOD3","LMX1B","LTBP1","MAP3K20","MAPK1","MAPK8IP3","MASP1","MATN3","MED12","MEGF10","METTL27","MFN2","MLXIPL","MMP13","MTMR14","MYBPC1","MYH7","MYL2","MYPN","NAA10","NCF1","NEB","NECTIN1","NF1","NOTCH3","NPR2","NSDHL","OBSL1","PCGF2","PIEZO2","PIK3C2A","PIK3CD","PLEC","PLEKHG5","POLR3GL","POMGNT1","POMK","POMT1","POMT2","POP1","PPM1D","PPP1R15B","PRG4","PRKG2","PUS1","RAB33B","RAB3GAP1","RAB3GAP2","RERE","RET","RETREG1","RFC2","RMRP","RSPRY1","RYR1","SATB2","SCN4A","SCN9A","SELENON","SETBP1","SETD5","SGCA","SGCG","SHOX","SLC10A7","SLC26A2","SMARCAL1","SMCHD1","SON","SOX5","SPEG","SPTLC1","STX1A","SYNE1","SYNE2","SYT1","TBL2","TBX6","TFAP2A","TFE3","TGFB1","TMEM270","TMEM43","TMEM63C","TNNT1","TOGARAM1","TONSL","TOR1A","TPM2","TPM3","TRAPPC11","TRAPPC2","TRPS1","TRPV4","TTN","TWIST1","VAC14","VCP","VPS13B","VPS33A","VPS37D","WNK1","XYLT1","ZC4H2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CERVICAL_SUBLUXATION":{"collection":"C5:HPO","systematicName":"M36254","pmid":"","exactSource":"HP:0003308","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003308","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CERVICAL_SUBLUXATION","geneSymbols":["ARSL","COL2A1","DDR2","FLNB","GALNS","GLB1","IDUA","MADD","MMP2","RMRP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_ODONTOID_PROCESS_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M36255","pmid":"","exactSource":"HP:0003310","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003310","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ODONTOID_PROCESS_MORPHOLOGY","geneSymbols":["AIFM1","ALDH18A1","ARSB","BGN","COG4","COL2A1","COMP","DDR2","DKK1","DLL3","DYM","EIF2AK3","EXTL3","FGD1","FLNA","FLNB","FN1","GALNS","GLB1","GNPTAB","GUSB","HES7","IARS2","IDUA","INPPL1","LFNG","LONP1","MESP2","MMP13","NFIX","NMNAT1","RAB33B","RMRP","TRAPPC2","TRPV4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPOPLASIA_OF_THE_ODONTOID_PROCESS":{"collection":"C5:HPO","systematicName":"M36256","pmid":"","exactSource":"HP:0003311","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003311","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASIA_OF_THE_ODONTOID_PROCESS","geneSymbols":["AIFM1","ARSB","BGN","COG4","COL2A1","COMP","DDR2","DYM","EIF2AK3","EXTL3","FGD1","FLNB","FN1","GALNS","GLB1","GNPTAB","GUSB","IARS2","IDUA","INPPL1","LFNG","LONP1","NFIX","RAB33B","RMRP","TRAPPC2","TRPV4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_FORM_OF_THE_VERTEBRAL_BODIES":{"collection":"C5:HPO","systematicName":"M36257","pmid":"","exactSource":"HP:0003312","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003312","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FORM_OF_THE_VERTEBRAL_BODIES","geneSymbols":["ABCC9","ACAN","ACP5","ACTB","ACVR1","ADA","AEBP1","AGA","AHI1","AIFM1","AIP","AKT1","ALDH1A2","ALG12","ALPL","ANKRD11","ANTXR1","APC","ARL13B","ARL3","ARMC9","ARSB","ARSK","ARSL","ATP6V1B2","ATP7A","ATRX","B3GALT6","B3GAT3","B3GLCT","B9D1","B9D2","BAZ1B","BCL11A","BCL7B","BGN","BMP1","BUD23","CANT1","CAPN15","CBS","CBY1","CCDC22","CCDC8","CCL2","CCN6","CDH11","CDK10","CEP104","CEP120","CEP41","CFAP410","CHD7","CHN1","CHRNG","CHST3","CLCN7","CLIP2","COG1","COG4","COL10A1","COL11A1","COL11A2","COL1A1","COL1A2","COL2A1","COL9A1","COL9A2","COL9A3","COMP","CPLANE1","CPLX1","CREB3L1","CRTAP","CSF1R","CSGALNACT1","CSPP1","CTBP1","CUL7","CYP27A1","DDR2","DDRGK1","DEAF1","DHCR7","DHX37","DLK1","DLL3","DMP1","DNAJC21","DNAJC30","DPP9","DPYSL5","DVL1","DVL3","DYM","EBP","EIF2AK3","EIF4H","EIF5A","ELN","ENPP1","EXOC6B","EXTL3","FANCB","FANCC","FBN1","FGFR1","FGFR2","FGFR3","FGFRL1","FIG4","FKBP10","FKBP6","FLI1","FLII","FLNA","FLNB","FN1","FOXF1","FUCA1","FUZ","FZD2","GALNS","GJA1","GLB1","GLE1","GLI3","GNPAT","GNPTAB","GNS","GORAB","GPX4","GTF2I","GTF2IRD1","GTF2IRD2","GUSB","H3-3B","HAAO","HDAC6","HES7","HGSNAT","HHAT","HNRNPR","HSPA9","HSPG2","HYLS1","IARS2","IDH1","IDH2","IDUA","IFITM5","IFT43","IFT74","IHH","IKBKG","INPP5E","INPPL1","IPO8","IQSEC2","ITCH","JAG1","KATNIP","KCNJ8","KDELR2","KDM6A","KIAA0586","KIAA0753","KIF22","KMT2D","KYNU","LAMA5","LBR","LETM1","LFNG","LIFR","LIMK1","LONP1","LRP4","LRP5","LRRK1","LTBP1","LTBP3","LYSET","MADD","MAFB","MAN2B1","MAP3K7","MATN3","MBD5","MBTPS2","MEG3","MESP2","METTL27","MIA3","MKS1","MLXIPL","MMP13","MMP14","MMP2","MPL","MRPS28","MYH3","NAGLU","NANS","NCF1","NEK1","NELFA","NEPRO","NEU1","NF1","NKX3-2","NMNAT1","NOTCH2","NOTCH2NLC","NOTCH3","NPR2","NSD2","OBSL1","OCRL","OFD1","ORC1","OTUD5","P3H1","P4HB","PAICS","PAM16","PAPSS2","PCYT1A","PDE4D","PDE6D","PEX7","PIBF1","PIEZO2","PIGG","PLCB3","PLEKHM1","PLOD1","PLOD2","PLOD3","PMM2","POLR3A","POP1","POR","PPIB","PPP1R15B","PRKAR1A","PRKG2","PTCH1","PTCH2","PTDSS1","PTEN","PTH1R","PUF60","PYCR1","RAB33B","RAD21","RAI1","RFC2","RINT1","RIPPLY2","RMRP","RNU4ATAC","ROR2","RPL13","RPS19","RPS6KA3","RSPRY1","RTL1","RUNX2","SALL4","SBDS","SC5D","SEC23A","SEC24D","SEMA3E","SERPINF1","SERPINH1","SF3B2","SF3B4","SFRP4","SGMS2","SGSH","SH3PXD2B","SIX6","SKI","SLC10A7","SLC25A24","SLC26A2","SLC29A3","SLC35D1","SLC39A13","SMAD4","SMARCAL1","SMOC1","SON","SOST","SOX2","SOX5","SPARC","SRP54","STAG2","STX1A","SUFU","SUMF1","TAPT1","TBC1D24","TBL2","TBX15","TBX2","TBX6","TBXAS1","TBXT","TCIRG1","TCTN1","TCTN2","TCTN3","TENT5A","THPO","TMCO1","TMEM218","TMEM237","TMEM270","TMEM53","TMEM67","TNFRSF11A","TOGARAM1","TONSL","TRAPPC2","TRIP11","TRPV4","TWIST1","UBE3B","UFSP2","USP8","VANGL1","VANGL2","VDR","VPS35L","VPS37D","WASHC5","WBP11","WNT1","WNT5A","WNT7A","XYLT1","XYLT2","ZBTB20"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BUTTERFLY_VERTEBRAE":{"collection":"C5:HPO","systematicName":"M36258","pmid":"","exactSource":"HP:0003316","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003316","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BUTTERFLY_VERTEBRAE","geneSymbols":["ALG12","ARSL","COG1","CSGALNACT1","FOXF1","HAAO","IPO8","KDM6A","KMT2D","LAMA5","MBTPS2","NKX3-2","OTUD5","RIPPLY2","SC5D","SIX6","SOX2","SOX5","STAG2","TBX6","WBP11"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_CERVICAL_SPINE":{"collection":"C5:HPO","systematicName":"M36259","pmid":"","exactSource":"HP:0003319","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003319","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_CERVICAL_SPINE","geneSymbols":["ABCC9","ACAN","ACTA1","ACTB","ACTG1","ADA2","ADAT3","AEBP1","AFF3","AIFM1","ALDOA","ALG8","ALG9","AMMECR1","ANKRD11","ANKRD55","ANTXR2","AP5Z1","APC","ARL6","ARSL","ARVCF","ATP6V1B2","ATRX","B3GALT6","B3GAT3","B3GLCT","BAP1","BBIP1","BBS1","BBS10","BBS12","BBS2","BBS4","BBS5","BBS7","BBS9","BGN","BMPER","BPTF","BRAF","BRD4","BRF1","BUB1B","C2CD3","CANT1","CBL","CCDC22","CCDC8","CCN6","CD247","CD96","CDH11","CDK5","CEP19","CEP290","CEP55","CFAP418","CFL2","CHN1","CHRNA1","CHRND","CHRNG","CHST14","CHST3","CLDN11","CLP1","COG1","COG5","COG7","COL11A1","COL11A2","COL12A1","COL2A1","COL6A1","COL6A2","COL6A3","COMP","COMT","CREBBP","CRLF1","CSGALNACT1","CTDP1","CTNND2","CUL4B","CUL7","DCC","DDR2","DDRGK1","DDX3X","DHCR7","DHX37","DLK1","DLL3","DOK7","DONSON","DPYD","DPYSL5","DSE","DVL1","DVL3","DYM","DYRK1A","EBP","ECEL1","EFNB1","EMD","EP300","ERCC1","ERCC2","ERCC5","ERCC6","ERMARD","ESCO2","EXOC6B","EXOSC9","EXTL3","FAM20C","FANCB","FANCI","FANCL","FBN2","FGD1","FGFR1","FGFR2","FGFR3","FHL1","FKRP","FLI1","FLNA","FLNB","FN1","FOXA2","FREM2","FTO","FUCA1","FZD2","GABRA3","GALNS","GATA1","GATA4","GDF3","GDF6","GJA5","GJA8","GLB1","GLE1","GLI2","GMPPB","GNAS","GNPTG","GNS","GP1BB","GPC3","GPC4","GPC6","GPKOW","GPX4","GUSB","GZF1","H4C5","HBA1","HBA2","HDAC4","HDAC8","HEATR3","HECTD4","HES7","HESX1","HIRA","HNF1B","HNRNPR","HPDL","HRAS","HS2ST1","HSPA9","HSPG2","HTRA1","IDH1","IDS","IDUA","IFT140","IFT172","IFT27","IFT74","IGBP1","IL2RA","IL2RB","IL6ST","INPPL1","INTS1","INTU","JMJD1C","KCNH1","KCNJ8","KCNMA1","KCNN3","KIAA0586","KIF26A","KIF7","KIFBP","KLHL41","KNSTRN","KRAS","LAMA5","LARGE1","LFNG","LHX3","LHX4","LIFR","LMOD3","LMX1B","LZTFL1","LZTR1","MADD","MAFB","MAN1B1","MAN2B1","MAP2K1","MAP2K2","MAPK1","MAPRE2","MECP2","MED12","MED13L","MEG3","MEGF8","MEOX1","MESP2","MGAT2","MICU1","MKKS","MKS1","MMP2","MPL","MRPL12","MRPS28","MSL3","MUSK","MYH3","MYL11","MYO18B","NAA10","NALCN","NANS","NBAS","NBN","NEB","NEK9","NF1","NIPBL","NKX3-2","NLRP1","NOTCH2","NOTCH3","NPHP1","NRAS","NUP188","NUP88","NXN","OBSL1","OTUD6B","OTX2","PAFAH1B1","PAICS","PALB2","PAM16","PGAP1","PGAP2","PGAP3","PHGDH","PIEZO2","PIGA","PIGL","PIGN","PIGO","PIGV","PIGW","PIGY","PIK3CD","PKDCC","PLXNA1","POGZ","POLE","POLR3A","POMT1","POMT2","POP1","POU1F1","PPP1CB","PPP1R15B","PRMT7","PROP1","PSAT1","PSMD12","PTCH1","PTPN11","PTPN2","PTPN22","PUF60","RAB23","RAB33B","RAB5IF","RAD21","RAF1","RB1","RDH11","RFT1","RFX7","RIPK4","RIPPLY2","RIT1","RMRP","RNU4ATAC","ROBO3","ROR2","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS7","RREB1","RSPRY1","RTL1","RYR1","SALL4","SATB2","SCAPER","SCLT1","SCN4A","SCYL2","SDCCAG8","SEC24C","SEMA5A","SETBP1","SF3B4","SHOC2","SHOX","SKI","SLC26A2","SLC2A1","SLC35B2","SLC35D1","SMAD3","SMAD4","SMARCAL1","SMC1A","SMC3","SMPD4","SMS","SNRPN","SOS1","SOS2","SOX9","SPRED1","SPRED2","SRCAP","STAT4","STX16","STXBP1","TAF1","TALDO1","TAPT1","TBCK","TBL1XR1","TBR1","TBX1","TBX15","TBX2","TBX6","TCF4","TCTN2","TECPR2","TFAP2A","TGDS","TGFB3","TGFBR1","THPO","TIMM50","TMCO1","TNNI2","TNNT3","TOR1A","TPM2","TRAPPC2","TRAPPC9","TRIM32","TRIP11","TRMT10A","TRPM3","TRPV4","TSR2","TTC8","TUBB","TXNDC15","UBE2A","UFD1","UNC80","VPS33A","VPS35L","WAC","WASHC5","WDPCP","WDR35","WNT4","WNT5A","WNT7A","XYLT1","XYLT2","YWHAE","ZC4H2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_C1_C2_SUBLUXATION":{"collection":"C5:HPO","systematicName":"M41281","pmid":"","exactSource":"HP:0003320","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003320","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_C1_C2_SUBLUXATION","geneSymbols":["ARSL","COL2A1","DDR2","IDUA","MADD","MMP2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PROGRESSIVE_MUSCLE_WEAKNESS":{"collection":"C5:HPO","systematicName":"M36260","pmid":"","exactSource":"HP:0003323","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003323","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROGRESSIVE_MUSCLE_WEAKNESS","geneSymbols":["ABHD5","ACTA1","ANO5","BIN1","COL12A1","COL6A1","COL6A2","COL6A3","COQ2","CRYAB","DES","DMD","DOLK","DYSF","FKTN","GGPS1","GIPC1","GOSR2","HACD1","ITGA7","LDB3","LRP12","LTBP4","MAP3K20","MEGF10","MIEF2","MLIP","MPV17","MT-TE","MT-TL1","MT-TL2","MT-TN","MT-TS1","MYH7","MYL2","MYOT","NEB","NOTCH2NLC","PCNA","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PHKA2","PHKB","PHKG2","PLEC","PNPLA2","POLG","POLG2","PRPS1","PUS1","PYGM","RILPL1","RYR1","SELENON","SIL1","SPEG","SPTLC1","TBCK","TK2","TNNT1","TPI1","TPM2","TPM3","TRAPPC11","TTN","TWNK","VAPB","VCP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_GENERALIZED_MUSCLE_WEAKNESS":{"collection":"C5:HPO","systematicName":"M36261","pmid":"","exactSource":"HP:0003324","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003324","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENERALIZED_MUSCLE_WEAKNESS","geneSymbols":["AARS2","ABCB6","ACAD9","ACTA1","ACY1","ADCY5","AGK","AGRN","AIFM1","ANG","ANXA11","ATP13A2","ATXN2","BAG3","CAPN3","CAVIN1","CCND1","CCNF","CFAP410","CHAT","CHCHD10","CHMP2B","CHRNA1","CHRND","CLCNKB","COA8","COL12A1","COL13A1","COL6A1","COL6A2","COL6A3","COLQ","CRPPA","DAO","DCTN1","DMD","DNAJB6","DSE","EPHA4","ERBB4","EXOSC9","FGF23","FIG4","FKRP","FKTN","FUS","FXYD2","GAA","GLE1","GLT8D1","HACD1","HADHA","HADHB","HNRNPA1","HTT","IBA57","ITGA7","KCNJ1","KLHL41","LAMB2","LDB3","LMOD3","MAP3K20","MATR3","MEGF10","MEN1","MORC2","MTM1","MUSK","MYH2","MYH7","MYL1","MYL2","MYO9A","NEB","NEFH","NEK1","OPTN","ORAI1","PFN1","PIGN","PLA2G6","PLEC","PLOD1","PNKD","POLG","POMGNT1","POMT1","POMT2","PON1","PON2","PON3","PPARGC1A","PRPH","PRRT2","RANBP2","RAPSN","RNU12","RYR1","SCN4A","SDHA","SDHAF1","SDHB","SDHD","SELENON","SLC12A1","SLC12A3","SLC16A2","SLC18A3","SLC25A1","SLC25A4","SLC2A3","SLC52A3","SLC5A7","SNAP25","SOD1","SPTLC1","SQSTM1","SYT2","TAF15","TARDBP","TBK1","TK2","TPM2","TPM3","TREM2","TTN","TWNK","UBA1","UBQLN2","UNC13A","VAMP1","VAPB","VCP","YY1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LIMB_GIRDLE_MUSCLE_WEAKNESS":{"collection":"C5:HPO","systematicName":"M36262","pmid":"","exactSource":"HP:0003325","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003325","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIMB_GIRDLE_MUSCLE_WEAKNESS","geneSymbols":["ABHD5","ACTA1","AGRN","AK9","ALG14","ALG2","ANO5","BICD2","BVES","CFL2","CHAT","CHRNA1","CHRNB1","CHRND","CHRNE","COL12A1","COL13A1","COL6A1","COL6A2","COL6A3","CRPPA","CRYAB","DAG1","DGUOK","DNA2","DNAJB6","DOK7","DPAGT1","DPM3","DYSF","FDX2","FKRP","FLNC","FRG1","GALC","GDAP1","GFPT1","GMPPB","GNE","GYG1","HACD1","HNRNPDL","ITGA7","KLHL41","LARGE1","LDB3","LMNA","LMOD3","LRIF1","LRP4","MAP3K20","MATR3","MORC2","MT-TE","MTAP","MUSK","MYH7","MYL2","MYO9A","MYOT","NEB","OPA1","PHKA1","PHKB","PLEC","PLIN4","PNPLA2","POLG","POLG2","POMK","POMT1","POMT2","PSAP","RAPSN","RRM2B","RYR1","SCN4A","SELENON","SGCA","SGCB","SLC18A3","SLC25A1","SLC25A4","SLC5A7","SMCHD1","SMN1","SMN2","SNAP25","SYT2","TNNT1","TNPO3","TPM2","TPM3","TRIM32","TTN","TWNK","VAMP1","VCP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MYALGIA":{"collection":"C5:HPO","systematicName":"M36263","pmid":"","exactSource":"HP:0003326","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003326","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MYALGIA","geneSymbols":["ACAD9","ACADM","ACADVL","ACP5","ADA2","ALDH4A1","ALDOA","ALMS1","AMPD1","AMPD3","ANK1","ANKRD55","ANO5","APC","ARVCF","ASXL1","ATP2A1","BIN1","BVES","C4A","CAPN3","CASQ1","CAV3","CAVIN1","CCDC78","CCR1","CD247","CHCHD10","CLCN1","CLCNKB","CNBP","COMT","COX6B1","CPT2","CR2","CRPPA","CTLA4","CTNNB1","DCC","DGUOK","DMD","DNA2","DNAJB6","DNAL4","DNASE1L3","DNM1L","DNM2","DSE","DYSF","ENO3","EPB42","ERAP1","EXT1","EXT2","FAS","FDX2","FKRP","FKTN","FLNC","FMR1","GLA","GP1BB","HADHA","HADHB","HIRA","HLA-B","HLA-DPA1","HLA-DPB1","HLA-DRB1","HNRNPA1","HPDL","HSPG2","IFNGR1","IGHG2","IGKC","IL10","IL12A","IL12A-AS1","IL12B","IL23R","IL2RA","IL2RB","IRF4","JMJD1C","KIT","KLRC4","KY","LBR","LDHA","LMNA","LMNB1","LPIN1","LPIN2","MATR3","MDM4","MEFV","MIEF2","MLIP","MLX","MOCOS","MRPS2","MSTO1","MT-CO1","MT-CO3","MT-TE","MT-TK","MT-TL1","MTMR14","MTTP","MVK","MYF6","MYH7","MYOT","NLRC4","NLRP12","NLRP3","NOD2","NTN1","OBSCN","OPA1","ORAI1","OTULIN","P4HA2","PDGFRA","PFKM","PGAM2","PGK1","PHKA1","PHKA2","PHKB","PHKG2","PNPLA2","POLG","POLG2","POLR3A","POMT1","PPARG","PRDM5","PRORP","PRTN3","PTPN2","PTPN22","PYGM","RAD51","RBCK1","RNASEH1","RREB1","RRM2B","RYR1","SCN4A","SCN9A","SDHA","SEC24C","SH3TC2","SLC12A3","SLC25A4","SLC25A42","SLC4A1","SPTA1","SPTB","SRSF2","STAT4","STIM1","SVIL","TBX1","TET2","TK2","TLR4","TMEM126B","TNFRSF1A","TNXB","TRAPPC11","TRIM32","TWNK","UBAC2","UFD1","VCP","VWA1","ZNF469"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_AXIAL_MUSCLE_WEAKNESS":{"collection":"C5:HPO","systematicName":"M36264","pmid":"","exactSource":"HP:0003327","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003327","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AXIAL_MUSCLE_WEAKNESS","geneSymbols":["ACTA1","BAG3","BICD2","BIN1","CACNA1S","CFL2","COL12A1","COL13A1","COL6A1","COL6A2","COL6A3","COLQ","CRYAB","DES","DOK7","FKRP","GMPPB","KLHL40","KLHL41","LAMB2","LARGE1","LMNA","LMOD3","MB","MEGF10","MT-TL1","MT-TL2","MT-TN","MT-TS1","MYBPC1","MYH7","MYL1","MYMX","NEB","POMT1","POMT2","RNASEH1","RYR1","SCN4A","SELENON","SPEG","TPM2","TRIP4","TTN","UNC45B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_HAIRSHAFT_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M36265","pmid":"","exactSource":"HP:0003328","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003328","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_HAIRSHAFT_MORPHOLOGY","geneSymbols":["AARS1","ASL","ATP7A","BCS1L","CARS1","CDH3","CLCN6","DSG4","ERCC2","ERCC3","GAN","GJA1","GTF2E2","GTF2H5","HEPHL1","KDF1","KRT25","KRT85","LMNA","MARS1","MPLKIP","NECTIN1","NECTIN4","PADI3","PEX1","PEX6","RNF113A","SKIC2","SKIC3","SPINK5","ST14","TARS1","TCHH","TGM3","TP63","WRN"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_BONE_STRUCTURE":{"collection":"C5:HPO","systematicName":"M36266","pmid":"","exactSource":"HP:0003330","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003330","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BONE_STRUCTURE","geneSymbols":["AARS1","ABCC6","ABCC9","ACP5","ACVR1","ADAMTS10","ADAMTS2","ADAMTSL2","ADCY10","AEBP1","AFF3","AGA","AGK","AGPAT2","AGPS","AGXT","AIFM1","AIP","AKR1D1","AKT1","ALB","ALDH18A1","ALG12","ALG3","ALG9","ALPL","ALX4","AMER1","ANAPC1","ANKH","ANKLE2","ANO5","ANOS1","ANTXR1","ANTXR2","AP1S2","AP2S1","APC","ARL6IP6","ARMC5","ARSL","ASAH1","ASPM","ASXL1","ASXL2","ATL3","ATP6V0A1","ATP6V0A2","ATP6V0A4","ATP7A","ATP7B","ATP8B1","ATRX","AVP","B2M","B3GALT6","B3GAT3","B4GALT7","BAAT","BANF1","BAZ1B","BCL7B","BGN","BMP1","BMP15","BMP2","BMP6","BMPER","BMPR1B","BMS1","BNC1","BRAF","BRCA1","BRCA2","BRIP1","BSCL2","BTNL2","BUB1","BUB1B","BUB3","BUD23","CA2","CALCR","CANT1","CARS1","CASR","CAV1","CAVIN1","CBFB","CBL","CBS","CCDC134","CCDC141","CCN2","CCN6","CCND1","CCR6","CD96","CDC73","CDH23","CDK5RAP2","CDK6","CDKN1A","CDKN1B","CDKN1C","CDKN2B","CDKN2C","CEACAM3","CEACAM6","CENPE","CENPJ","CEP135","CEP152","CEP164","CEP290","CEP57","CEP63","CFTR","CHD7","CHEK2","CHRNG","CHST3","CIT","CLCA4","CLCN5","CLCN7","CLIP2","CLPB","COG1","COL10A1","COL11A2","COL1A1","COL1A2","COL2A1","COL3A1","COL5A1","COL5A2","COL7A1","COL9A3","COMP","COPB2","COX4I2","CPLX1","CREB3L1","CRIPT","CRTAP","CSF1R","CSPP1","CTBP1","CTC1","CTCF","CTDP1","CTNNB1","CTNND2","CTNS","CTSC","CTSK","CYB5A","CYP11A1","CYP17A1","CYP19A1","CYP27A1","CYP27B1","CYP2R1","CYP3A4","DCAF17","DCC","DCHS1","DCTN4","DDOST","DDR2","DDRGK1","DHCR24","DHCR7","DHX37","DKC1","DKK1","DLK1","DLL4","DLX3","DMP1","DMRT3","DNAJC21","DNAJC30","DPAGT1","DPM2","DUOX2","DUOXA2","DUSP6","DVL1","DYM","DYNC2H1","DYNC2I1","DYNC2I2","EBP","EDNRA","EED","EFL1","EHHADH","EIF2AK3","EIF4H","ELANE","ELMO2","ELN","ELP1","ENPP1","ERCC2","ERCC3","ERCC4","ERCC6","ERCC8","ESR1","ESR2","EXOC6B","EXT1","EXT2","EXTL3","FAH","FAM111A","FAM20C","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FARSB","FAT4","FBLN5","FBN1","FBN2","FERMT3","FEZF1","FGF17","FGF23","FGF8","FGFR1","FGFR2","FGFRL1","FIG4","FKBP10","FKBP14","FKBP6","FLNA","FLNB","FLRT3","FN1","FOS","FOXA2","FSHR","FUT8","FZD4","G6PC1","GALNS","GALNT3","GALT","GATA1","GATA4","GATM","GBA1","GCLC","GCM2","GDF5","GEMIN4","GET4","GFI1","GGCX","GJA1","GJB2","GJB6","GK","GLA","GLB1","GLE1","GLI2","GLI3","GLIS3","GNA11","GNAS","GNPAT","GNPTAB","GNRH1","GNRHR","GORAB","GPAA1","GPC3","GPC4","GPR35","GPX4","GSC","GSTM3","GTF2E2","GTF2H5","GTF2I","GTF2IRD1","GTF2IRD2","GUSB","HAMP","HBB","HBG1","HBG2","HDAC6","HECW2","HERC2","HESX1","HFE","HGD","HGSNAT","HHAT","HJV","HLA-DQA1","HLA-DQB1","HLA-DRB1","HMGA2","HMOX1","HNF4A","HNRNPA1","HNRNPA2B1","HNRNPH1","HNRNPK","HOXA13","HPGD","HRAS","HS6ST1","HSD17B4","HSD3B7","HSPG2","HTRA1","IARS2","IDH1","IDH2","IER3IP1","IFIH1","IFITM5","IFT122","IFT140","IFT43","IFT52","IFT80","IGF1","IHH","IKBKG","IL12A","IL12RB1","IL17RD","IL1RN","IL6ST","INPPL1","INTU","INVS","IQCB1","IRF5","IRX5","ITGB4","IYD","KARS1","KCNH1","KCNJ1","KCNJ8","KCNN4","KDELR2","KIAA0586","KIF14","KIF1A","KIF22","KIF7","KISS1","KISS1R","KIT","KL","KLF1","KLLN","KNL1","KNSTRN","KRAS","LAMA3","LAMA5","LAMB3","LAMC2","LARS2","LBR","LEMD2","LEMD3","LETM1","LFNG","LHX3","LHX4","LIFR","LIMK1","LMNA","LMX1B","LONP1","LPIN2","LRP4","LRP5","LRP6","LRRK1","LTBP4","MAD2L2","MAFB","MAGEL2","MALT1","MAN2B1","MAP2K1","MAP3K1","MAP3K7","MATN3","MBTPS1","MBTPS2","MC4R","MCM7","MCPH1","MDM4","MED12","MEG3","MEN1","METTL27","METTL5","MFSD2A","MGAT2","MGP","MIA3","MIF","MIR140","MITF","MKRN3","MLXIPL","MMEL1","MMP1","MMP13","MMP14","MMP2","MPL","MPLKIP","MRPS22","MSH4","MST1","MTAP","MTRR","MTTP","MTX2","NAA20","NAB2","NAE1","NAF1","NAGA","NAGLU","NANS","NCAPD3","NCF1","NDN","NDNF","NDP","NDUFAF1","NDUFAF6","NELFA","NEU1","NF1","NFATC2","NFIX","NFKBIA","NGLY1","NHERF1","NHLH2","NHP2","NKX3-2","NLRP3","NOP10","NOTCH2","NOTCH3","NPAP1","NPHP1","NPHP3","NPHP4","NPM1","NPR2","NR0B1","NR3C1","NR5A1","NRAS","NSD2","NSDHL","NSMF","NT5E","NUP107","NUP37","OCA2","OCRL","OFD1","ORC1","ORC6","OSTM1","OTX2","P3H1","P4HB","PALB2","PAM16","PAPPA2","PARN","PCCA","PCCB","PDE11A","PDE4D","PDGFRB","PDLIM4","PEPD","PERP","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PEX7","PHC1","PHEX","PHF21A","PHKA2","PHKB","PHKG2","PIGG","PIGL","PIGT","PIGU","PIGV","PIGY","PIK3CA","PIK3CD","PISD","PLCB3","PLEC","PLEKHM1","PLOD1","PLOD2","PLOD3","PMM2","POC1A","POF1B","POLD1","POLE","POLG","POLG2","POLR1B","POLR1C","POLR1D","POLR3A","POLR3H","POLRMT","PORCN","POU1F1","POU2AF1","PPARG","PPIB","PPP3CA","PRDM5","PRG4","PRKACA","PRKAR1A","PRKG2","PRLR","PROK2","PROKR2","PROP1","PSAP","PSMC3IP","PTCH1","PTDSS1","PTEN","PTH1R","PWAR1","PWRN1","PYCR1","PYCR2","PYGL","RAB3GAP1","RAD51","RAD51C","RB1","RBL2","RECQL4","RETREG1","RFC2","RFWD3","RIGI","RIN2","RMRP","RNF113A","RNF125","RNU4ATAC","RNU7-1","RPL10","RPL11","RRM2B","RSPO2","RSPRY1","RTEL1","RTL1","RUNX1","RUNX2","SALL4","SAMD9","SARS1","SASS6","SATB2","SBDS","SC5D","SCARB2","SCN4A","SCN9A","SDCCAG8","SDHB","SDHC","SDHD","SEC23A","SEC23B","SEC24D","SEMA3A","SEMA3E","SEMA4D","SEMA5A","SERPINA1","SERPINH1","SETBP1","SETD2","SFRP4","SGMS2","SGSH","SH3BP2","SH3PXD2B","SIK3","SIM1","SKI","SLC10A1","SLC10A7","SLC11A1","SLC12A1","SLC17A5","SLC25A19","SLC25A24","SLC25A4","SLC26A2","SLC26A9","SLC29A3","SLC2A2","SLC34A1","SLC34A2","SLC34A3","SLC35A2","SLC35B2","SLC35D1","SLC37A4","SLC39A13","SLC39A14","SLC39A8","SLC4A1","SLC4A2","SLC5A5","SLC6A14","SLC7A7","SLC9A3","SLCO2A1","SLX4","SMAD3","SMARCAL1","SMARCD2","SMPD1","SMS","SNORD115-1","SNORD116-1","SNRPB","SNRPN","SNX10","SOST","SOX10","SOX3","SOX9","SP7","SPARC","SPIB","SPIDR","SPRTN","SPRY4","SQSTM1","SRC","SRCAP","SRP19","SRP54","SRSF2","SRY","STAT1","STAT3","STAT6","STIL","STN1","STX16","STX1A","STX3","SYK","TAC3","TACR3","TAF1","TAF13","TAPT1","TARS1","TBCE","TBCK","TBL2","TBXAS1","TCF12","TCF4","TCIRG1","TCOF1","TENT5A","TERC","TERT","TET2","TG","TGFB1","TGFBR2","THPO","THRB","TINF2","TJP2","TMEM165","TMEM270","TMEM38B","TMEM53","TMEM67","TNFRSF11A","TNFRSF11B","TNFSF11","TNFSF15","TNNC2","TNPO3","TOM1","TONSL","TP53","TPO","TRAF3IP1","TRAPPC10","TRAPPC14","TRAPPC2","TREM2","TRIM37","TRIP11","TRIP13","TRMT10A","TRPS1","TRPV3","TRPV4","TRPV6","TSHB","TSHR","TSPAN12","TTC26","TWNK","TXNDC15","TYMS","TYROBP","UBA2","UBE2T","UFSP2","UNC45A","UNC80","UROD","UROS","USB1","USF3","USP48","USP8","USP9X","VAC14","VAMP7","VCP","VDR","VPS35L","VPS37D","VPS53","WARS1","WDR11","WDR19","WDR35","WDR62","WNK1","WNT1","WNT3","WNT3A","WNT7A","WRAP53","WRN","WT1","WWOX","XRCC2","XYLT1","XYLT2","ZBTB20","ZFPM2","ZMPSTE24","ZNF408","ZNF469","ZNF668","ZNF699","ZSWIM7"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ELEVATED_CIRCULATING_CATECHOLAMINE_LEVEL":{"collection":"C5:HPO","systematicName":"M46087","pmid":"","exactSource":"HP:0003334","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003334","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELEVATED_CIRCULATING_CATECHOLAMINE_LEVEL","geneSymbols":["CCND1","SDHC","SDHD","SLC25A11","VHL"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_ENCHONDRAL_OSSIFICATION":{"collection":"C5:HPO","systematicName":"M36267","pmid":"","exactSource":"HP:0003336","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003336","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ENCHONDRAL_OSSIFICATION","geneSymbols":["ABCC6","AGPS","ALPL","ARSL","B3GALT6","BGN","BMPER","BMPR1B","CANT1","CBFB","CD96","CHST3","CLCN5","COL10A1","COL11A2","COL2A1","COL9A3","COMP","CPLX1","CSPP1","CTBP1","CYP19A1","CYP27B1","CYP2R1","DDR2","DDRGK1","DHCR7","DLK1","DNAJC21","DUOX2","DUOXA2","DYM","DYNC2H1","DYNC2I1","DYNC2I2","EBP","EIF2AK3","ENPP1","ESR1","EXOC6B","EXTL3","FGFR2","FGFRL1","FIG4","FLNA","FLNB","GDF5","GGCX","GJB2","GJB6","GNPAT","GPC3","GPC4","GPX4","GSC","GUSB","HESX1","HOXA13","HSPG2","IARS2","IFT80","IHH","INPPL1","IYD","KCNH1","KIAA0586","KIF22","KIF7","LBR","LEMD3","LETM1","LFNG","LHX3","LHX4","LONP1","MATN3","MBTPS1","MEG3","MGP","MIR140","NANS","NEU1","NFIX","NKX3-2","NSD2","NSDHL","ORC1","ORC6","PAM16","PDE4D","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PEX7","PIGV","PISD","POU1F1","PRKAR1A","PROP1","PTCH1","PTH1R","RMRP","RNU4ATAC","RSPO2","RTL1","RUNX2","SBDS","SETD2","SIK3","SLC10A7","SLC26A2","SLC34A2","SLC34A3","SLC35B2","SLC35D1","SLC5A5","SNRPB","SOX9","SRP54","TG","THRB","TONSL","TPO","TRAPPC2","TRIP11","TRPV4","TSHB","TSHR","UFSP2","VAC14","VDR","VPS35L","WDR35","WNT3","XYLT1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LAMINA_LUCIDA_CLEAVAGE":{"collection":"C5:HPO","systematicName":"M46088","pmid":"","exactSource":"HP:0003341","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003341","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LAMINA_LUCIDA_CLEAVAGE","geneSymbols":["COL17A1","COL7A1","ITGA6","ITGB4","KRT14","KRT5","LAMA3","LAMB3","LAMC2","PLEC"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_3_METHYLGLUTARIC_ACIDURIA":{"collection":"C5:HPO","systematicName":"M46089","pmid":"","exactSource":"HP:0003344","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003344","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_3_METHYLGLUTARIC_ACIDURIA","geneSymbols":["DNAJC19","HMGCL","HTRA2","OPA3","TIMM50"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ELEVATED_URINARY_NOREPINEPHRINE_LEVEL":{"collection":"C5:HPO","systematicName":"M47076","pmid":"","exactSource":"HP:0003345","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003345","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELEVATED_URINARY_NOREPINEPHRINE_LEVEL","geneSymbols":["DLST","DNMT3A","EPAS1","FH","KIF1B","MAX","MDH2","NF1","RET","SDHA","SDHAF2","SDHB","SDHC","SDHD","SLC25A11","SLC6A2","TMEM127","VHL"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_IMPAIRED_LYMPHOCYTE_TRANSFORMATION_WITH_PHYTOHEMAGGLUTININ":{"collection":"C5:HPO","systematicName":"M41282","pmid":"","exactSource":"HP:0003347","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003347","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRED_LYMPHOCYTE_TRANSFORMATION_WITH_PHYTOHEMAGGLUTININ","geneSymbols":["BCL11B","IL2RG","JAK3","KLHDC8B","MCM10","MGAT2","MYD88","PTPRC","RELB","RMRP","STAT1","TTC7A","WAS","ZAP70"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DECREASED_CIRCULATING_RENIN_LEVEL":{"collection":"C5:HPO","systematicName":"M36269","pmid":"","exactSource":"HP:0003351","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003351","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_CIRCULATING_RENIN_LEVEL","geneSymbols":["AVPR2","CACNA1D","CYP11B1","CYP17A1","HSD11B2","KCNJ5","NR3C2","POR","SCNN1A","SCNN1B","SCNN1G","WNK1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_AMINOACIDURIA":{"collection":"C5:HPO","systematicName":"M36270","pmid":"","exactSource":"HP:0003355","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003355","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AMINOACIDURIA","geneSymbols":["AASS","ABCD4","ACADM","AGXT2","ALDH4A1","ALDH5A1","ALDH6A1","ALDOB","AMT","ARG1","ASL","ASPA","ASPH","ATP7B","ATPAF2","BCS1L","CAMKMT","CASR","CBS","CLCN5","CLTRN","COA8","CPS1","CTH","CTNS","CYP27B1","CYP2R1","DDB2","DGUOK","DHTKD1","DMGDH","EHHADH","ERCC2","ERCC3","ERCC4","ERCC5","ETFA","ETFB","ETFDH","FAH","FARS2","FH","FOCAD","FTCD","GALE","GALT","GATM","GCLC","GEMIN4","GGT1","GLDC","GLYCTK","GPHN","GSS","GUCY2D","HAL","HCFC1","HGD","HIBCH","HNF4A","IBA57","IVD","KYNU","LETM1","LIPT1","LMBRD1","MARS1","MCCC2","MMACHC","MMADHC","MOCS1","MOCS2","MT-TN","MT-TS1","MTHFR","MTR","MTRR","NADK2","NAGA","NDUFAF6","NEU1","NFS1","NFU1","NGLY1","OAT","OCRL","OPLAH","OTC","PCCA","PCCB","PET100","PEX1","PEX5","PHYKPL","PLOD2","PPM1B","PRDX1","PREPL","PRODH","RRM2B","SARDH","SLC13A3","SLC19A2","SLC1A1","SLC25A13","SLC25A15","SLC2A2","SLC34A1","SLC35A1","SLC36A2","SLC3A1","SLC6A18","SLC6A19","SLC6A20","SLC7A7","SLC7A9","SPINK5","SUCLA2","SUOX","SURF1","TDO2","TK2","TNFRSF11A","TNFRSF11B","TRNT1","TRPV6","UMPS","UQCRB","VIPAS39","VPS33B","XPA","XPC"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABDOMINAL_SITUS_INVERSUS":{"collection":"C5:HPO","systematicName":"M47077","pmid":"","exactSource":"HP:0003363","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003363","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABDOMINAL_SITUS_INVERSUS","geneSymbols":["ACTG2","CCDC32","CFAP52","CFAP53","CFC1","CPLX1","CTBP1","FOXJ1","LETM1","NELFA","NODAL","NSD2","PIGG","PKD1L1","ZIC3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ARTHRALGIA_OF_THE_HIP":{"collection":"C5:HPO","systematicName":"M41283","pmid":"","exactSource":"HP:0003365","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003365","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ARTHRALGIA_OF_THE_HIP","geneSymbols":["B2M","COL2A1","COL9A1","COL9A2","COL9A3","COMP","MATN3","SLC26A2","TRAPPC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_FEMORAL_NECK_HEAD_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M36272","pmid":"","exactSource":"HP:0003366","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003366","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FEMORAL_NECK_HEAD_MORPHOLOGY","geneSymbols":["ABCC9","ACAN","ACVR1","ADAMTS2","ADAMTSL2","AFF3","AIFM1","ARCN1","ARID1B","ARSL","ATP6V0A2","ATP7A","ATRX","B3GALT6","B4GALT7","BCR","BGN","BMPR1B","BRF1","CANT1","CBFB","CCDC47","CCN6","CDC6","CFAP410","CHD4","CHST3","COG1","COG4","COG8","COL10A1","COL11A1","COL11A2","COL1A1","COL1A2","COL27A1","COL2A1","COL9A1","COL9A2","COL9A3","COMP","CREBBP","CRKL","CRTAP","CSGALNACT1","CSPP1","CTC1","DDRGK1","DLK1","DMP1","DNAJC21","DUOX2","DUOXA2","DVL1","DVL3","DYM","EED","EFL1","EIF2AK3","ENPP1","EP300","ERCC6","EXOC6B","EXT1","EXT2","EXTL3","EZH2","FGFR3","FKBP10","FLNA","FLNB","FN1","FUCA1","FZD2","GALNS","GJB2","GJB6","GLB1","GLI3","GNPTAB","GNPTG","GTF2E2","HDAC4","HESX1","HNRNPH1","HNRNPK","HNRNPR","HS2ST1","HSPA9","HSPG2","IARS2","IDUA","IFIH1","IFNGR1","IFT140","IHH","INPP5K","IYD","KCNJ8","KDELR2","KIAA0586","KIF22","LBR","LHX3","LHX4","LMNA","LMX1B","LRP5","LYSET","MAN2B1","MAPK1","MATN3","MBTPS1","MEG3","MEGF8","MGAT2","MMP13","MMP9","MTX2","NANS","NEK9","NFIX","NGLY1","NKX3-2","NRCAM","ORC1","ORC6","OTUD5","PCNT","PCYT1A","PDE4D","PEX5","PIK3C2A","PLOD3","POC1A","POP1","POU1F1","PRG4","PROP1","PTH1R","RAB23","RAB33B","RAB3GAP2","RAD21","RBM8A","RET","RINT1","RMRP","RNU4ATAC","RPL13","RPS6KA3","RSPRY1","RTL1","RUNX2","SBDS","SERPINF1","SHOX","SIL1","SKIC3","SLC10A7","SLC12A2","SLC26A2","SLC2A10","SLC35A2","SLC35B2","SLC39A13","SLC5A5","SMARCAL1","SRCAP","SRP54","STXBP1","TBX15","TBX4","TCIRG1","TG","TGFB1","TGFB3","TINF2","TMEM53","TMEM67","TONSL","TPO","TRAF3IP1","TRAPPC2","TREX1","TRIP11","TRPS1","TRPV4","TSHB","TSHR","UBE3C","UFC1","UFSP2","UNC45A","WNT5A","XYLT1","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_FEMORAL_NECK_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M43288","pmid":"","exactSource":"HP:0003367","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003367","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FEMORAL_NECK_MORPHOLOGY","geneSymbols":["ABCC9","ACVR1","ADAMTS2","ADAMTSL2","AFF3","AIFM1","ARCN1","ARID1B","ATP6V0A2","ATP7A","ATRX","B3GALT6","B4GALT7","BCR","BGN","BMPR1B","CANT1","CBFB","CCDC47","CCN6","CFAP410","CHD4","CHST3","COG1","COG4","COG8","COL10A1","COL11A1","COL1A1","COL1A2","COL27A1","COL2A1","COL9A1","COL9A2","COL9A3","COMP","CRKL","CRTAP","CSGALNACT1","CTC1","DDRGK1","DLK1","DMP1","DNAJC21","DVL1","DVL3","DYM","EED","EIF2AK3","ENPP1","ERCC6","EXOC6B","EXT1","EXT2","EXTL3","EZH2","FGFR3","FKBP10","FLNA","FLNB","FN1","FUCA1","FZD2","GALNS","GJB2","GJB6","GLB1","GLI3","GNPTAB","GTF2E2","HNRNPH1","HNRNPK","HNRNPR","HSPG2","IDUA","IFIH1","IFT140","IHH","INPP5K","KCNJ8","KDELR2","KIF22","LBR","LMNA","LMX1B","LYSET","MAN2B1","MAPK1","MATN3","MBTPS1","MEG3","MEGF8","MGAT2","MMP13","MMP9","MTX2","NANS","NFIX","NGLY1","NKX3-2","NRCAM","ORC1","ORC6","OTUD5","PCNT","PCYT1A","PDE4D","PEX5","PIK3C2A","POC1A","POP1","PRG4","PTH1R","RAB23","RAB33B","RAB3GAP2","RAD21","RBM8A","RMRP","RNU4ATAC","RPL13","RPS6KA3","RSPRY1","RTL1","RUNX2","SBDS","SERPINF1","SHOX","SIL1","SLC10A7","SLC12A2","SLC26A2","SLC2A10","SLC35A2","SLC35B2","SLC39A13","SRP54","STXBP1","TBX4","TCIRG1","TGFB1","TGFB3","TMEM53","TMEM67","TONSL","TRAPPC2","TRIP11","TRPV4","UBE3C","UFC1","UFSP2","WNT5A","XYLT1","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_FEMORAL_HEAD_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M36273","pmid":"","exactSource":"HP:0003368","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003368","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FEMORAL_HEAD_MORPHOLOGY","geneSymbols":["ACAN","ADAMTS2","ADAMTSL2","AIFM1","ATP7A","B3GALT6","BRF1","CANT1","CCN6","CDC6","CHST3","COG1","COL10A1","COL11A2","COL1A1","COL1A2","COL2A1","COL9A1","COMP","CREBBP","CSPP1","DNAJC21","DUOX2","DUOXA2","DVL1","DVL3","DYM","EFL1","EP300","EXT1","EXTL3","FN1","FZD2","GLB1","GNPTG","HDAC4","HESX1","HS2ST1","HSPA9","IARS2","IDUA","IFNGR1","IFT140","IHH","INPP5K","IYD","KIAA0586","KIF22","LHX3","LHX4","MATN3","MTX2","NEK9","PCNT","PEX5","PIK3C2A","PLOD3","POP1","POU1F1","PRG4","PROP1","RAB33B","RAB3GAP2","RAD21","RET","RINT1","RNU4ATAC","RSPRY1","SBDS","SIL1","SKIC3","SLC26A2","SLC2A10","SLC39A13","SLC5A5","SMARCAL1","SRCAP","SRP54","TBX15","TBX4","TG","TINF2","TONSL","TPO","TRAF3IP1","TRAPPC2","TREX1","TRPS1","TRPV4","TSHB","TSHR","UFSP2","UNC45A","WNT5A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_STEPPAGE_GAIT":{"collection":"C5:HPO","systematicName":"M36275","pmid":"","exactSource":"HP:0003376","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003376","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_STEPPAGE_GAIT","geneSymbols":["ADSS1","ATL1","ATL3","ATP1A1","BICD2","CLIC2","COA7","COX6A1","DCAF8","DHH","EGR2","FHL1","GAN","GBF1","GDAP1","GNB4","GNE","GRIN2A","HARS1","HINT1","HNRNPA1","HSPB1","HSPB3","IGHMBP2","INF2","KARS1","KIF1B","KLHL9","LMNA","LRSAM1","MARS1","MFN2","MPZ","MTRFR","MTTP","NEB","NEFL","PDK3","PLEKHG5","PMP2","PMP22","POLG","PRX","RAB7A","SBF2","SCO2","SLC25A46","SLC30A10","SPTLC1","SPTLC2","SQSTM1","TDP1","TIA1","TTN","VAC14","VCP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_AXONAL_DEGENERATION_REGENERATION":{"collection":"C5:HPO","systematicName":"M36276","pmid":"","exactSource":"HP:0003378","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003378","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AXONAL_DEGENERATION_REGENERATION","geneSymbols":["GBF1","GDAP1","KIF1B","LMNA","LRSAM1","MFN2","MPZ","RAB7A","SLC12A6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DECREASED_NUMBER_OF_PERIPHERAL_MYELINATED_NERVE_FIBERS":{"collection":"C5:HPO","systematicName":"M36277","pmid":"","exactSource":"HP:0003380","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003380","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_NUMBER_OF_PERIPHERAL_MYELINATED_NERVE_FIBERS","geneSymbols":["APTX","DHH","DNM2","DNMT1","EGR2","ELP1","FGD4","FLRT1","GAN","GDAP1","GJB1","HK1","HSPB8","JPH1","KIF1A","KIF1B","KLC2","LIG3","LMNA","MFN2","MME","MPV17","MPZ","MTRFR","NEFL","NGF","NTRK1","PLEKHG5","PMP22","PNPT1","POLG","PRX","RAB7A","RAI1","RETREG1","RRM2B","SACS","SBF2","SCN9A","SH3TC2","SPG11","SPTLC1","TDP1","TFG","TRIM2","TWNK","TYMP","VPS13A","WNK1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPERTROPHIC_NERVE_CHANGES":{"collection":"C5:HPO","systematicName":"M36278","pmid":"","exactSource":"HP:0003382","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003382","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERTROPHIC_NERVE_CHANGES","geneSymbols":["EGR2","GDAP1","LITAF","MPZ","PMP22","PRX"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ONION_BULB_FORMATION":{"collection":"C5:HPO","systematicName":"M36279","pmid":"","exactSource":"HP:0003383","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003383","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ONION_BULB_FORMATION","geneSymbols":["AFG3L2","ARHGEF10","COX6A1","DCAF8","DNM2","EGR2","FGD4","FIG4","GBF1","GDAP1","GJB1","GNB4","HYCC1","INF2","KIF1B","LITAF","LMNA","MFN2","MPZ","MTRFR","NDRG1","NEFL","PMP2","PMP22","PRPS1","PRX","SACS","SBF1","SBF2","SH3TC2","SLC12A6","YARS1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DECREASED_NUMBER_OF_LARGE_PERIPHERAL_MYELINATED_NERVE_FIBERS":{"collection":"C5:HPO","systematicName":"M36280","pmid":"","exactSource":"HP:0003387","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003387","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_NUMBER_OF_LARGE_PERIPHERAL_MYELINATED_NERVE_FIBERS","geneSymbols":["APTX","ELP1","GDAP1","HK1","HSPB8","LIG3","LMNA","MFN2","MME","NEFL","PLEKHG5","PNPT1","POLG","PRX","RRM2B","SACS","SH3TC2","SPTLC1","TWNK","TYMP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_EASY_FATIGABILITY":{"collection":"C5:HPO","systematicName":"M36281","pmid":"","exactSource":"HP:0003388","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003388","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EASY_FATIGABILITY","geneSymbols":["ACTA1","AGK","AGRN","AIP","AK9","ALG14","ALG2","ATP13A3","BAG3","CALR","CASQ1","CCN6","CDH23","CHAT","CHRNA1","CHRNB1","CHRND","CHRNE","CHST11","COL13A1","COLQ","CWF19L1","DCC","DNAL4","DNM2","DOK7","DPAGT1","FKBP14","GFPT1","GMPPB","GTPBP3","HACD1","HNRNPK","HSPB3","ISCU","ITGA7","JAK2","LAMB2","LDHA","LIG3","LRP4","MAP3K20","MEN1","MGME1","MICU1","MPL","MTMR14","MUSK","MYL2","MYO9A","MYPN","NARS2","NEB","NFE2L2","NTN1","PFKM","PNPLA2","POLG","POLG2","POMT1","PRKAR1A","PYROXD1","RAD51","RAPSN","RRM2B","RYR1","SCN4A","SDHA","SDHAF1","SDHB","SDHD","SELENON","SLC18A3","SLC25A1","SLC25A4","SLC25A42","SLC5A7","SNAP25","STIM1","SURF1","SYT2","TDP2","TET2","TGFB1","TMEM126B","TPM2","TPM3","TWNK","TYMP","VAMP1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SENSORY_AXONAL_NEUROPATHY":{"collection":"C5:HPO","systematicName":"M36282","pmid":"","exactSource":"HP:0003390","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003390","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SENSORY_AXONAL_NEUROPATHY","geneSymbols":["ACOX1","AIFM1","ATL3","ATP13A2","CAPN1","CCT5","COX20","CTSD","DGUOK","DHX16","FGF14","FXN","GAN","GJC2","HEXB","HINT1","HNRNPA1","HNRNPA2B1","KLC2","LMNA","MFN2","MORC2","NEFH","OPA1","PIEZO2","PLD3","PLEKHG4","POLG","PRICKLE1","SAMD9L","SHMT2","SYNE1","TK2","TWNK","VCP","XRCC4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_GOWERS_SIGN":{"collection":"C5:HPO","systematicName":"M36283","pmid":"","exactSource":"HP:0003391","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003391","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GOWERS_SIGN","geneSymbols":["ACBD5","ACTA1","ALG14","ALG2","ASAH1","ATP6V1E1","BICD2","BIN1","CAV3","CFL2","CHKB","CHRNA1","CHRNE","COL12A1","COL6A1","COL6A2","COL6A3","DAG1","DMD","DNA2","DNAJB6","DOK7","DPAGT1","DPM3","FDX2","FKTN","GATM","GFPT1","GMPPB","HACD1","INPP5K","ITGA7","LAMA2","MICU1","MSTO1","MUSK","MYPN","NEFL","ORAI1","PLEC","PNPLA2","PNPLA8","POMGNT1","POMGNT2","POMK","POMT1","PUS1","PYROXD1","RAPSN","RNU12","RYR1","RYR3","SCN4A","SECISBP2","SELENON","SGCA","SGCB","SGCD","SGCG","SPEG","SPTLC1","STAC3","SYNE1","TAFAZZIN","TK2","TNNT1","TPM2","TPM3","TRAPPC11","TRIM32","TRPV4","TTN","UNC45B","VAPB","VMA21"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FIRST_DORSAL_INTEROSSEI_MUSCLE_WEAKNESS":{"collection":"C5:HPO","systematicName":"M41284","pmid":"","exactSource":"HP:0003392","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003392","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FIRST_DORSAL_INTEROSSEI_MUSCLE_WEAKNESS","geneSymbols":["ATP1A2","BSCL2","CACNA1A","GARS1","JAG1","PRRT2","REEP1","SCN1A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_THENAR_MUSCLE_ATROPHY":{"collection":"C5:HPO","systematicName":"M36284","pmid":"","exactSource":"HP:0003393","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003393","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THENAR_MUSCLE_ATROPHY","geneSymbols":["BSCL2","COMP","GARS1","GBF1","IDUA","ITPR3","NEB","PDK3","PLOD3","PMP22","REEP1","SLC39A13","SLC5A6","SPG11"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MUSCLE_SPASM":{"collection":"C5:HPO","systematicName":"M36285","pmid":"","exactSource":"HP:0003394","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003394","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MUSCLE_SPASM","geneSymbols":["ABCB6","ACADM","ACADVL","ALDH18A1","ALDH4A1","ALG14","ALG2","AMPD1","AMPD3","ANG","ANXA11","AR","ATP1A1","ATP2A1","ATXN1","ATXN2","ATXN3","BSCL2","CACNA1S","CADM3","CARMIL2","CASQ1","CASR","CAV3","CCNF","CFAP410","CHCHD10","CHMP2B","CHRNE","CLCNKB","COL1A1","COL4A1","COL5A1","COL5A2","CPT2","CRPPA","CYP17A1","DAO","DCTN1","DGUOK","DLD","DMD","DNA2","DNAJC13","DNAJC6","DOK7","DPAGT1","EIF4G1","EPHA4","ERBB4","FAR1","FBXO38","FDX2","FIG4","FKRP","FKTN","FLVCR1","FUS","GABRA3","GARS1","GBA1","GBE1","GBF1","GFM2","GFPT1","GIGYF2","GLA","GLE1","GLT8D1","GMPPB","GNA11","GNAS","HADHA","HADHB","HEXB","HHAT","HINT1","HNRNPA1","HPDL","HSPB1","HTRA2","ISCU","KCNA1","KCNJ1","KCNJ18","KPNA3","KY","LAMA2","LAMP2","LDHA","LPIN1","LRP12","LRRK2","MAP3K20","MATR3","MFN2","MICU1","MLIP","MORC2","MPZ","MT-ATP6","MT-CO1","MT-CO3","NEFH","NEFL","NEK1","OBSCN","OPA3","OPTN","ORAI1","PARK7","PFKM","PFN1","PGAM2","PGK1","PHKA2","PHKB","PHKG2","PIGG","PINK1","PMP22","PODXL","POLG","POLG2","POMT1","PON1","PON2","PON3","PPARGC1A","PRKN","PRPH","PUS7","PYGL","PYGM","REEP1","RNASEH1","RRM2B","RTN2","RYR1","SCN4A","SH3TC2","SLC12A1","SLC12A3","SLC16A1","SLC25A4","SMN1","SMN2","SNCA","SOD1","SQSTM1","STIM1","STT3A","STX16","SVIL","SYNJ1","TAF15","TARDBP","TBK1","TFG","TRAPPC11","TREM2","TRPM6","TRPM7","TWNK","UBAP1","UBQLN2","UCHL1","UNC13A","VAPB","VCP","VPS13C","VPS35","WASHC5"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SYRINGOMYELIA":{"collection":"C5:HPO","systematicName":"M36286","pmid":"","exactSource":"HP:0003396","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003396","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SYRINGOMYELIA","geneSymbols":["ABCA1","ACY1","CCNQ","CLP1","COG4","CREBBP","CTNNB1","DDHD2","DDR2","DKK1","EP300","EXT1","EXT2","FBLN1","FOXF1","HMGA2","HNRNPK","IL11RA","KDM1A","LEMD3","NFIA","NOTCH2","NOTCH3","NRAS","RAI1","RBM8A","RUNX2","SETD2","SH2B1","SPARC","TBX6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_SYNAPTIC_TRANSMISSION_AT_THE_NEUROMUSCULAR_JUNCTION":{"collection":"C5:HPO","systematicName":"M36287","pmid":"","exactSource":"HP:0003398","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003398","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SYNAPTIC_TRANSMISSION_AT_THE_NEUROMUSCULAR_JUNCTION","geneSymbols":["ACAD9","ACADM","ACTA1","AGRN","AK9","ALG14","ALG2","ANG","ANXA11","ATRX","ATXN2","BRAF","CACNA1S","CASQ1","CASR","CCNF","CDH23","CFAP410","CFL2","CHAT","CHCHD10","CHMP2B","CHRNA1","CHRNB1","CHRND","CHRNE","COA8","COL13A1","COLQ","DAO","DCTN1","DES","DKK1","DOK7","DPAGT1","EPHA4","ERBB4","FIG4","FKRP","FLNC","FUS","GFPT1","GIPC1","GLE1","GLT8D1","GMPPB","GNA11","HACD1","HINT1","HNRNPA1","ITGA7","KBTBD13","KCNE3","KCNK9","KLHL41","LAMB2","LARGE1","LDB3","LMOD3","LPIN1","LRP12","LRP4","MAP3K20","MATR3","MINPP1","MT-CO1","MT-CO3","MTM1","MUSK","MYL2","MYO9A","MYPN","NEB","NEFH","NEK1","NGLY1","NOTCH2NLC","NR3C1","OBSCN","OPTN","ORAI1","PFN1","PLEC","POMT1","POMT2","PON1","PON2","PON3","PPARGC1A","PRPH","RAPSN","RILPL1","RNASEH1","RRM2B","RYR1","SCN4A","SELENON","SLC18A3","SLC25A1","SLC34A2","SLC5A7","SNAP25","SOD1","SQSTM1","STIM1","SYNE1","SYT2","TAF15","TARDBP","TBK1","TFG","TOE1","TP53","TPM2","TPM3","TREM2","UBQLN2","UNC13A","USP48","USP8","VAMP1","VAPB","VCP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PARESTHESIA":{"collection":"C5:HPO","systematicName":"M36288","pmid":"","exactSource":"HP:0003401","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003401","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PARESTHESIA","geneSymbols":["AIP","ALAD","APP","ATL1","ATP1A2","ATXN1","BMPR1A","C4A","CACNA1A","CALR","CASR","CBLIF","CCND1","CCR1","CLCNKB","COMP","COQ6","CTDP1","CUBN","DEPDC5","EPCAM","ERAP1","FAN1","FAS","GABRG2","GALC","GATA1","GBE1","GLA","GNA11","GNA14","GNAS","GPR101","GRIN2A","HEXB","HINT1","HLA-B","HLA-DQB1","HLA-DRB1","HMBS","HPDL","IFNGR1","IL10","IL12A","IL12A-AS1","IL23R","IL6ST","JAK2","KCNJ1","KIF5A","KLRC4","KRAS","KRT14","KRT5","LIFR","LIG3","LITAF","LMX1B","LZTR1","MEFV","MEN1","MFN2","MLH1","MLH3","MPL","MSH2","MSH6","MTHFR","NAGA","NAGLU","NEFL","NF2","NPRL2","NPRL3","OPA3","P4HA2","PDCD1","PIK3CA","PMP22","PMS1","PMS2","POLG","PRNP","PRRT2","PTPN22","RPS20","RRM2B","SBF2","SCN1A","SCN4A","SCN9A","SCYL1","SEMA4A","SEPTIN9","SERPING1","SH2B3","SLC12A1","SLC12A3","SLC19A2","SLC26A2","SLC2A1","SMARCB1","SPTLC2","SRPX2","STAT4","STX16","TET2","TGFBR2","THPO","TK2","TLR4","TNFRSF1A","TP53","TRAPPC2","TRIM32","TYMP","UBAC2","UROD","UROS","VCP","VWA1","YY1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DECREASED_MINIATURE_ENDPLATE_POTENTIALS":{"collection":"C5:HPO","systematicName":"M36289","pmid":"","exactSource":"HP:0003402","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003402","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_MINIATURE_ENDPLATE_POTENTIALS","geneSymbols":["AGRN","AK9","CHAT","CHRNA1","CHRNB1","CHRND","CHRNE","COL13A1","DOK7","LRP4","MUSK","RAPSN","SCN4A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_EMG_DECREMENTAL_RESPONSE_OF_COMPOUND_MUSCLE_ACTION_POTENTIAL_TO_REPETITIVE_NERVE_STIMULATION":{"collection":"C5:HPO","systematicName":"M36290","pmid":"","exactSource":"HP:0003403","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003403","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EMG_DECREMENTAL_RESPONSE_OF_COMPOUND_MUSCLE_ACTION_POTENTIAL_TO_REPETITIVE_NERVE_STIMULATION","geneSymbols":["AGRN","AK9","ALG14","ALG2","BIN1","CHAT","CHRNA1","CHRNB1","CHRND","CHRNE","COL13A1","COLQ","DOK7","DPAGT1","GFPT1","GMPPB","LAMB2","LRP4","MUSK","MYL1","NOTCH2NLC","RAPSN","RYR1","SCN4A","SPEG","SYT2","TTN","VAMP1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DISTAL_SENSORY_IMPAIRMENT_OF_ALL_MODALITIES":{"collection":"C5:HPO","systematicName":"M36291","pmid":"","exactSource":"HP:0003409","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003409","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DISTAL_SENSORY_IMPAIRMENT_OF_ALL_MODALITIES","geneSymbols":["ATL1","CCT5","DHH","DMD","HINT1","HK1","MFN2","NAGA","RNF170","SPTLC1","SPTLC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ATLANTOAXIAL_ABNORMALITY":{"collection":"C5:HPO","systematicName":"M36293","pmid":"","exactSource":"HP:0003413","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003413","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ATLANTOAXIAL_ABNORMALITY","geneSymbols":["ARSL","B3GALT6","CHST14","COL2A1","COMP","DDR2","DSE","DYM","FKBP14","GATA1","GNPTAB","NFIX","POLR3A","RMRP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ATLANTOAXIAL_DISLOCATION":{"collection":"C5:HPO","systematicName":"M36294","pmid":"","exactSource":"HP:0003414","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003414","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ATLANTOAXIAL_DISLOCATION","geneSymbols":["B3GALT6","CHST14","COMP","DSE","GNPTAB","NFIX","RMRP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SPINAL_CANAL_STENOSIS":{"collection":"C5:HPO","systematicName":"M36295","pmid":"","exactSource":"HP:0003416","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003416","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPINAL_CANAL_STENOSIS","geneSymbols":["ADAMTS10","AIP","AKT1","ARSL","CASZ1","CSPP1","DMP1","ENPP1","EXTL3","FBN1","FGFR3","GABRD","GPR101","HSPG2","IARS2","IDS","IDUA","KANSL1","KCNAB2","KIAA0586","LUZP1","MMP23B","MYH3","NFATC2","NOG","PDE4D","PDPN","PHEX","PHF6","PRDM16","PRKAR1A","PRKCZ","RERE","RIPPLY2","RRAS2","SKI","SPEN","TBCE","TRPM3","TTR","UBE4B","ZNF341"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CORONAL_CLEFT_VERTEBRAE":{"collection":"C5:HPO","systematicName":"M36296","pmid":"","exactSource":"HP:0003417","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003417","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CORONAL_CLEFT_VERTEBRAE","geneSymbols":["ALDH1A2","ARSL","CHST3","COL11A2","COL2A1","CSGALNACT1","FLNB","GNPAT","HSPA9","HSPG2","IARS2","LAMA5","LONP1","PEX7","SLC10A7","SLC26A2","TRIP11","TRPV4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BACK_PAIN":{"collection":"C5:HPO","systematicName":"M36297","pmid":"","exactSource":"HP:0003418","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003418","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BACK_PAIN","geneSymbols":["ABCD1","AKT1","ALDH18A1","ANXA11","ATP7B","BAP1","BRCA1","BRCA2","CAPN3","CCND1","CD46","CDKN2A","CFH","CFI","CLCN7","COL2A1","CPOX","DLL3","EMD","FAR1","FHL1","FLI1","FLNC","HELLPAR","HGD","HLA-B","HMBS","HTRA1","KRAS","LMNA","LMX1B","LRP5","MATN3","MESP2","NAB2","NF2","NGF","NKX3-2","PALB2","PALLD","PDGFB","PIK3CA","PLEKHM1","POLR3GL","PPOX","PRKCSH","RABL3","RASA1","SEC63","SLC22A12","SLC2A9","SMAD4","SMARCB1","SMARCE1","SMO","SPAST","SPTBN1","STAT6","SUFU","SYNE1","SYNE2","TBX18","TBX6","TCIRG1","TERT","TMEM43","TP53","TRAF7","TRAPPC2","VANGL1","VCP","VHL","WASHC5","WRN"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LOW_BACK_PAIN":{"collection":"C5:HPO","systematicName":"M36298","pmid":"","exactSource":"HP:0003419","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003419","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOW_BACK_PAIN","geneSymbols":["ALDH18A1","ANXA11","COL2A1","FAR1","HGD","HTRA1","NAB2","NGF","SPAST","STAT6","TBX6","WASHC5","WRN"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_VERTEBRAL_SEGMENTATION_DEFECT":{"collection":"C5:HPO","systematicName":"M36299","pmid":"","exactSource":"HP:0003422","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003422","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VERTEBRAL_SEGMENTATION_DEFECT","geneSymbols":["ABCC6","ACTB","ACVR1","AEBP1","AFF4","ANKRD11","ASH1L","ASXL2","ATP6V1B2","ATRX","B3GLCT","BAZ1B","BCL7B","BMPER","BRPF1","BUD23","CAPN15","CCDC22","CDC45","CDH11","CDK10","CHD4","CHD7","CHN1","CHRM3","CHRNA1","CHRND","CHRNG","CLIP2","COG1","COL2A1","CPLX1","CTBP1","DCC","DKK1","DLK1","DLL3","DNAJC30","DNAL4","DPP9","DPYSL5","DVL1","DVL3","EBP","EIF4H","EIF5A","ELN","ENPP1","FANCB","FANCI","FGD1","FGFR1","FGFR2","FGFRL1","FKBP6","FKRP","FLNA","FLNB","FN1","FRAS1","FREM2","FUZ","FZD2","GDF3","GDF5","GDF6","GLI3","GPC3","GPC4","GRIP1","GTF2I","GTF2IRD1","GTF2IRD2","H3-3B","HES7","HGD","HNF1B","HNRNPK","HOXD13","HRAS","IKBKG","IL1RN","JAG1","KANSL1","KDM6A","KMT2D","KRAS","KYNU","LETM1","LFNG","LIMK1","LRP4","LYSET","MADD","MAFB","MAP3K7","MBD5","MBTPS2","MEG3","MEOX1","MESP2","METTL27","MID1","MLXIPL","MNX1","MYH3","MYO18B","NADSYN1","NALCN","NCF1","NOG","NOTCH3","NRAS","NSD2","NTN1","NXN","ORC1","PAICS","POR","PTCH1","PTCH2","PTDSS1","PUF60","RAD21","RAD51","RBM8A","RFC2","RIPPLY2","ROR2","RTL1","SALL4","SEMA3E","SF3B2","SIX6","SMAD4","SON","SOX2","SOX5","STAG2","STX1A","SUFU","TAF1","TBC1D24","TBL2","TBX2","TBX6","TMCO1","TMEM270","TNNI2","TNNT3","TPM2","VANGL1","VPS35L","VPS37D","WASHC5","WBP11","WNT4","WNT5A","WNT7A","ZIC3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_THORACOLUMBAR_KYPHOSCOLIOSIS":{"collection":"C5:HPO","systematicName":"M36300","pmid":"","exactSource":"HP:0003423","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003423","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THORACOLUMBAR_KYPHOSCOLIOSIS","geneSymbols":["CCN6","CDH11","GNPTAB","LHX3","MGAT2","NEPRO","POP1","SLC26A2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_THENAR_MUSCLE_WEAKNESS":{"collection":"C5:HPO","systematicName":"M47078","pmid":"","exactSource":"HP:0003427","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003427","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THENAR_MUSCLE_WEAKNESS","geneSymbols":["BSCL2","FLNC","GARS1","PMP22","REEP1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CNS_HYPOMYELINATION":{"collection":"C5:HPO","systematicName":"M36301","pmid":"","exactSource":"HP:0003429","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003429","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CNS_HYPOMYELINATION","geneSymbols":["AARS1","ACBD5","ADSL","AHCY","ALG2","ALS2","ATP6V1A","BCAP31","C2CD3","C2orf69","CHKA","CLDN11","CNTNAP1","CYB5A","CYB5R3","DALRD3","DARS1","DDOST","DPAGT1","DYRK1A","EIF2B1","ELOVL1","EPRS1","EXOC2","EXOSC5","FUCA1","FUS","GABRA2","GABRA5","GAN","GDAP1","GJC2","GLUL","GRIK2","GRM7","HEXB","HYCC1","INTU","LEMD2","MED27","MTHFS","NARS2","NKX6-2","NMNAT1","PARS2","PEX13","PGAP2","PGAP3","PHGDH","PI4KA","PIGL","PIGO","PIGV","PIGW","PIGY","PLP1","POLR1C","POLR3A","POLR3B","PRKDC","PURA","PYCR2","QARS1","RARS1","RMND1","RNF220","SIGMAR1","SLC1A4","SLC25A12","SLC33A1","SMPD4","SNIP1","SOX10","SPATA5","SPG11","SPTAN1","SPTLC1","STAMBP","STXBP1","TBCD","TIAM1","TMTC3","TRAPPC11","TTC26","TUBB4A","VPS11","WDR26","YIF1B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DECREASED_SIZE_OF_NERVE_TERMINALS":{"collection":"C5:HPO","systematicName":"M36302","pmid":"","exactSource":"HP:0003443","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003443","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_SIZE_OF_NERVE_TERMINALS","geneSymbols":["AGRN","AK9","CHRNA1","CHRNB1","CHRND","CHRNE","COL13A1","COLQ","DOK7","GFPT1","LAMB2","LRP4","MUSK","RAPSN","SCN4A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_EMG_CHRONIC_DENERVATION_SIGNS":{"collection":"C5:HPO","systematicName":"M36303","pmid":"","exactSource":"HP:0003444","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003444","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EMG_CHRONIC_DENERVATION_SIGNS","geneSymbols":["ALS2","ARSA","ASAH1","COL25A1","DCAF8","ERGIC1","FBXO38","HINT1","HNRNPA1","HNRNPA2B1","HSPB1","HSPB8","MFN2","MPV17","OPA1","PLA2G6","PRPS1","PSAP","SCO2","SCYL2","SH3TC2","SLC12A6","SMN1","SMN2","SPG7","TBCE","TBCK","VCP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_EMG_NEUROPATHIC_CHANGES":{"collection":"C5:HPO","systematicName":"M36304","pmid":"","exactSource":"HP:0003445","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003445","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EMG_NEUROPATHIC_CHANGES","geneSymbols":["ACTA1","ALS2","ANO5","ARSA","ASAH1","ATP7A","CHCHD10","COL25A1","DCAF8","DYNC1H1","ERGIC1","FBXO38","GBF1","GDAP1","GJB1","HINT1","HNRNPA1","HNRNPA2B1","HSPB1","HSPB3","HSPB8","IBA57","IGHMBP2","LDB3","MFN2","MPV17","MYH7","NEB","NEFH","NOP56","OPA1","PLA2G6","PLEKHG5","PMP22","PNPT1","PRPS1","PSAP","SCO2","SCYL2","SH3TC2","SLC12A6","SMN1","SMN2","SPG11","SPG7","SYNE1","TBCE","TBCK","TPP1","UBA1","VAPB","VCP","VPS13A","VRK1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_AXONAL_LOSS":{"collection":"C5:HPO","systematicName":"M36305","pmid":"","exactSource":"HP:0003447","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003447","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AXONAL_LOSS","geneSymbols":["ADPRS","ASCC1","BAG3","FIG4","GDAP1","GJB1","INF2","LMNA","MOCS1","MOCS2","NDRG1","NGLY1","PMP22","RFC1","SLC12A6","SURF1","TRIP4","TYROBP","UBQLN2","UBTF"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_COLD_INDUCED_MUSCLE_CRAMPS":{"collection":"C5:HPO","systematicName":"M36306","pmid":"","exactSource":"HP:0003449","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003449","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_COLD_INDUCED_MUSCLE_CRAMPS","geneSymbols":["BSCL2","CHCHD10","CPT2","GARS1","MPZ","PMP22","REEP1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_AXONAL_REGENERATION":{"collection":"C5:HPO","systematicName":"M36307","pmid":"","exactSource":"HP:0003450","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003450","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AXONAL_REGENERATION","geneSymbols":["GDAP1","GNB4","HK1","JPH1","LMNA","NEFL","YARS1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INCREASED_SERUM_IRON":{"collection":"C5:HPO","systematicName":"M36308","pmid":"","exactSource":"HP:0003452","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003452","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_SERUM_IRON","geneSymbols":["BCS1L","BMP2","FTH1","HAMP","HFE","HJV","KIF23","PKLR","RACGAP1","SKIC3","SLC11A2","STEAP3","TFR2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ANTINEUTROPHIL_ANTIBODY_POSITIVITY":{"collection":"C5:HPO","systematicName":"M36309","pmid":"","exactSource":"HP:0003453","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003453","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANTINEUTROPHIL_ANTIBODY_POSITIVITY","geneSymbols":["ARPC1B","BACH2","BANK1","BLK","C4A","C4B","CASP10","CLPB","CR2","CTLA4","CTNNB1","DEF6","DNASE1","DNASE1L3","EIF2AK4","ELANE","ETS1","FAS","FASLG","FCGR2B","FCGR3B","GFI1","HLA-DRB1","IGHG1","IL10","IRAK1","IRF5","ITCH","ITGAM","JAZF1","KIAA0319L","MECP2","PDCD1","PRKCD","PTPN22","PXK","RASGRP1","SAT1","SPP1","SRP19","SRP54","STAT4","STING1","TCIRG1","TLR7","TLR8","TNFAIP3","TNFSF4","TNIP1","TREX1","UBE2L3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ELEVATED_CIRCULATING_LONG_CHAIN_FATTY_ACID_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M36310","pmid":"","exactSource":"HP:0003455","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003455","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELEVATED_CIRCULATING_LONG_CHAIN_FATTY_ACID_CONCENTRATION","geneSymbols":["ABCD1","CPT2","PEX1","PEX19","PEX5"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_EMG_ABNORMALITY":{"collection":"C5:HPO","systematicName":"M36311","pmid":"","exactSource":"HP:0003457","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003457","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EMG_ABNORMALITY","geneSymbols":["ABCC9","ABHD5","ACAD9","ACTA1","ACTC1","ACTN2","ADCY6","AGRN","AK9","ALDOA","ALG14","ALG2","ALS2","ANKRD1","ANO10","ANO5","ANXA11","ARSA","ASAH1","ATL1","ATL3","ATP13A2","ATP2A1","ATP7A","ATXN3","B3GALNT2","BAG3","BAG5","BIN1","CACNA1D","CACNA1S","CAP2","CASQ1","CASR","CAV3","CDON","CEP126","CHAT","CHCHD10","CHRNA1","CHRNB1","CHRND","CHRNE","CLCN1","CNTNAP1","COL12A1","COL13A1","COL25A1","COL6A1","COL6A2","COL6A3","COLQ","COQ8A","CPLANE1","CPT1C","CRPPA","CRYAB","CSRP3","CYP27A1","DCAF8","DES","DHX16","DISP1","DLL1","DMD","DMXL2","DNAJB4","DNM2","DNMT3B","DOK7","DOLK","DPAGT1","DSG2","DSP","DUX4","DUX4L1","DYNC1H1","DYSF","ELP1","EMD","ERGIC1","FBXO38","FGF8","FGFR1","FHL1","FHL2","FKRP","FKTN","FLNC","FOXH1","FRG1","FXR1","GABRA3","GAS1","GATAD1","GBE1","GBF1","GDAP1","GFPT1","GIPC1","GJB1","GLI2","GMPPB","GNA11","GNE","GYG1","HAND2","HINT1","HNRNPA1","HNRNPA2B1","HSPB1","HSPB3","HSPB8","HSPG2","IBA57","IGHMBP2","JAG2","JPH2","KBTBD13","KCNA1","KCNE3","KCNJ18","KLHL41","KLHL9","KPNA3","LAMA2","LAMA4","LAMB1","LAMB2","LAMP2","LARGE1","LDB3","LGI4","LMNA","LMOD2","LRP12","LRP4","MAFB","MATR3","MEGF10","MFN2","MPV17","MSTO1","MT-ATP8","MT-ND5","MT-RNR1","MT-TF","MT-TH","MT-TK","MT-TL1","MT-TL2","MT-TN","MT-TP","MT-TQ","MT-TS1","MT-TS2","MTMR14","MUSK","MYBPC1","MYBPC3","MYF6","MYH14","MYH6","MYH7","MYL1","MYO9A","MYOT","MYPN","NALCN","NEB","NEFH","NEFL","NEXN","NODAL","NOP56","NOTCH2NLC","NR4A2","OAT","OPA1","OPTN","ORAI1","PDK3","PLA2G6","PLEC","PLEKHG5","PLN","PLOD1","PMP22","PNPT1","POLG","POLG2","POMGNT1","POMT1","POMT2","PPCS","PRDM16","PRPS1","PSAP","PSEN1","PSEN2","PTCH1","PUS1","RAF1","RAPSN","RBM20","RILPL1","RPL3L","RRM2B","RTN2","RYR1","SAR1B","SCN4A","SCN5A","SCO2","SCYL2","SDHA","SEPTIN9","SETX","SGCA","SGCD","SGCG","SH3TC2","SHH","SIX3","SLC12A6","SLC16A1","SLC18A3","SLC25A1","SLC25A4","SLC33A1","SLC5A7","SMAD4","SMCHD1","SMN1","SMN2","SNAP25","SPEG","SPG11","SPG7","SPTLC1","SPTLC2","SQSTM1","STIM1","SUFU","SVIL","SYNE1","SYNE2","SYT2","TAF1A","TAFAZZIN","TANGO2","TBCE","TBCK","TCAP","TDGF1","TFG","TGIF1","TIA1","TK2","TMEM43","TMPO","TNNC1","TNNI3","TNNT1","TNNT2","TNPO3","TPM1","TPM2","TPM3","TPP1","TRIM32","TRIP4","TTN","TWNK","TXNRD2","UBA1","UBAP1","UNC45B","UNC80","VAMP1","VAPB","VCL","VCP","VEZF1","VPS13A","VRK1","VWA1","WASHC5","YARS2","ZFR","ZIC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_EMG_MYOPATHIC_ABNORMALITIES":{"collection":"C5:HPO","systematicName":"M36312","pmid":"","exactSource":"HP:0003458","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003458","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EMG_MYOPATHIC_ABNORMALITIES","geneSymbols":["ABHD5","ACAD9","ACTA1","AGRN","AK9","ALDOA","ANO5","BAG3","BIN1","CASQ1","CAV3","CDON","CHAT","CHCHD10","CHRNA1","CHRNB1","CHRND","CHRNE","COL12A1","COL13A1","COL6A1","COL6A2","COL6A3","CRPPA","CRYAB","DES","DHX16","DISP1","DLL1","DNAJB4","DNM2","DOK7","DYSF","EMD","FGF8","FGFR1","FHL1","FKRP","FKTN","FLNC","FOXH1","FXR1","GAS1","GIPC1","GLI2","GNE","GYG1","HNRNPA1","HNRNPA2B1","JAG2","KBTBD13","KLHL41","KLHL9","LAMP2","LARGE1","LDB3","LMNA","LRP12","LRP4","MEGF10","MSTO1","MTMR14","MUSK","MYBPC1","MYF6","MYH14","MYH7","MYO9A","MYOT","MYPN","NALCN","NEB","NEFL","NODAL","ORAI1","PLEC","PLOD1","POLG","POLG2","POMT1","PTCH1","RAPSN","RILPL1","RRM2B","RYR1","SAR1B","SCN4A","SGCA","SGCG","SHH","SIX3","SLC18A3","SLC25A1","SLC25A4","SLC5A7","SNAP25","SQSTM1","STIM1","SUFU","SVIL","SYNE1","SYNE2","SYT2","TANGO2","TDGF1","TGIF1","TIA1","TK2","TMEM43","TNNT1","TNPO3","TPM2","TPM3","TRIM32","TRIP4","TTN","TWNK","UNC45B","UNC80","VAMP1","VCP","VWA1","ZIC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_POLYCLONAL_ELEVATION_OF_IGM":{"collection":"C5:HPO","systematicName":"M36313","pmid":"","exactSource":"HP:0003459","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003459","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POLYCLONAL_ELEVATION_OF_IGM","geneSymbols":["GPR35","KLHDC8B","MST1","MYD88","SEMA4D","TCF4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DECREASED_CIRCULATING_TOTAL_IGA":{"collection":"C5:HPO","systematicName":"M41285","pmid":"","exactSource":"HP:0003460","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003460","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_CIRCULATING_TOTAL_IGA","geneSymbols":["ATP6AP1","CD247","CD3D","CD3E","IVNS1ABP","KNSTRN","PIK3CD","SYK"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PARADOXICAL_INCREASED_CORTISOL_SECRETION_ON_DEXAMETHASONE_SUPPRESSION_TEST":{"collection":"C5:HPO","systematicName":"M47079","pmid":"","exactSource":"HP:0003466","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003466","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PARADOXICAL_INCREASED_CORTISOL_SECRETION_ON_DEXAMETHASONE_SUPPRESSION_TEST","geneSymbols":["ARMC5","ATRX","BRAF","CDH23","CDKN2A","CTNNB1","GNAS","NR3C1","PDE11A","PRKAR1A","TERT","TP53","USP48","USP8","ZNRF3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ATLANTOAXIAL_INSTABILITY":{"collection":"C5:HPO","systematicName":"M43289","pmid":"","exactSource":"HP:0003467","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003467","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ATLANTOAXIAL_INSTABILITY","geneSymbols":["ARSL","COL2A1","DDR2","DYM","FKBP14","GATA1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_VERTEBRAL_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M36314","pmid":"","exactSource":"HP:0003468","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003468","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_VERTEBRAL_MORPHOLOGY","geneSymbols":["ABCC6","ABCC9","ACAN","ACP5","ACTB","ACVR1","ADA","AEBP1","AFF4","AGA","AHI1","AIFM1","AIP","AKT1","ALDH1A2","ALG12","ALPL","ANKRD11","ANTXR1","APC","APC2","ARL13B","ARL3","ARMC9","ARSB","ARSK","ARSL","ASH1L","ASXL2","ATP6V1B2","ATP7A","ATRX","B3GALT6","B3GAT3","B3GLCT","B9D1","B9D2","BAZ1B","BCL11A","BCL7B","BGN","BMP1","BMP15","BMPER","BNC1","BRAF","BRPF1","BUD23","CANT1","CAPN15","CBS","CBY1","CCDC134","CCDC22","CCDC8","CCL2","CCN6","CCND1","CDC45","CDH11","CDH23","CDK10","CDON","CEP104","CEP120","CEP41","CFAP410","CHD4","CHD7","CHN1","CHRM3","CHRNA1","CHRND","CHRNG","CHST14","CHST3","CLCN3","CLCN7","CLIP2","COG1","COG4","COL10A1","COL11A1","COL11A2","COL1A1","COL1A2","COL2A1","COL9A1","COL9A2","COL9A3","COLEC11","COMP","CPLANE1","CPLX1","CREB3L1","CRTAP","CSF1R","CSGALNACT1","CSPP1","CTBP1","CTSA","CUL7","CYP27A1","DACT1","DCC","DDR2","DDRGK1","DEAF1","DHCR7","DHODH","DHX37","DISP1","DKK1","DLK1","DLL1","DLL3","DMP1","DNAJC21","DNAJC30","DNAL4","DPP9","DPYSL5","DSE","DVL1","DVL3","DYM","DYNC2H1","DYNC2I1","DYNC2I2","EBP","EFL1","EIF2AK3","EIF4H","EIF5A","ELN","ENPP1","ESCO2","EXOC6B","EXTL3","FANCB","FANCC","FANCI","FBN1","FGD1","FGF8","FGFR1","FGFR2","FGFR3","FGFRL1","FIG4","FKBP10","FKBP6","FKRP","FLI1","FLII","FLNA","FLNB","FN1","FOXA2","FOXF1","FOXH1","FRAS1","FREM2","FSHR","FUCA1","FUZ","FZD2","GALNS","GAS1","GBA1","GDF11","GDF3","GDF5","GDF6","GJA1","GLB1","GLE1","GLI2","GLI3","GNPAT","GNPTAB","GNS","GORAB","GPC3","GPC4","GPX4","GRIP1","GTF2I","GTF2IRD1","GTF2IRD2","GUSB","GZF1","H3-3B","HAAO","HDAC6","HES7","HESX1","HGD","HGSNAT","HHAT","HIBCH","HNF1B","HNRNPK","HNRNPR","HOXD13","HRAS","HSPA9","HSPG2","HTRA1","HYLS1","IARS2","IDH1","IDH2","IDS","IDUA","IFITM5","IFT43","IFT74","IFT80","IHH","IKBKG","IL1RN","INPP5E","INPPL1","IPO8","IQSEC2","ITCH","JAG1","KANSL1","KATNIP","KCNJ8","KDELR2","KDM1A","KDM6A","KIAA0586","KIAA0753","KIF22","KIF7","KMT2D","KRAS","KYNU","LAMA5","LBR","LEMD3","LETM1","LFNG","LHX4","LIFR","LIMK1","LONP1","LRP4","LRP5","LRRK1","LTBP1","LTBP3","LYSET","MADD","MAFB","MAN2B1","MAP3K7","MATN3","MBD5","MBTPS2","MEG3","MEOX1","MESD","MESP2","METTL27","MIA3","MID1","MKS1","MLXIPL","MMP13","MMP14","MMP2","MNX1","MPL","MRPS22","MRPS28","MSH4","MYH3","MYO18B","NADSYN1","NAGLU","NALCN","NANS","NCF1","NEK1","NEK9","NELFA","NEPRO","NEU1","NF1","NFATC2","NKX3-2","NMNAT1","NODAL","NOG","NOTCH2","NOTCH2NLC","NOTCH3","NPR2","NR3C1","NR5A1","NRAS","NSD1","NSD2","NSDHL","NTN1","NUP107","NXN","OBSL1","OCRL","OFD1","ORC1","OTUD5","OTX2","P3H1","P4HB","PAICS","PAM16","PAPSS2","PAX3","PCYT1A","PDE4D","PDE6D","PEX7","PHEX","PHF6","PIBF1","PIEZO2","PIGG","PLCB3","PLEKHM1","PLOD1","PLOD2","PLOD3","PMM2","POGZ","POLR3A","POLR3H","POP1","POR","POU1F1","PPIB","PPP1R15B","PRKAR1A","PRKG2","PROP1","PSMC3IP","PTCH1","PTCH2","PTDSS1","PTEN","PTH1R","PUF60","PYCR1","RAB33B","RAD21","RAD51","RAI1","RBM8A","RECQL4","RFC2","RINT1","RIPPLY2","RMRP","RNU4ATAC","ROR2","RPL13","RPS19","RPS6KA3","RSPO2","RSPRY1","RTL1","RUNX2","SALL1","SALL4","SBDS","SC5D","SCARB2","SEC23A","SEC24D","SEMA3E","SERPINF1","SERPINH1","SETD2","SF3B2","SF3B4","SFRP4","SGMS2","SGSH","SH2B1","SH3PXD2B","SHH","SIX3","SIX6","SKI","SLC10A7","SLC25A24","SLC26A2","SLC29A3","SLC35B2","SLC35D1","SLC39A13","SMAD4","SMARCAL1","SMOC1","SMS","SON","SOST","SOX2","SOX3","SOX5","SOX9","SPARC","SPIDR","SRP54","STAG2","STIL","STX1A","SUFU","SUMF1","TAF1","TAPT1","TBC1D24","TBL2","TBX15","TBX2","TBX5","TBX6","TBXAS1","TBXT","TCIRG1","TCTN1","TCTN2","TCTN3","TDGF1","TENT5A","TGIF1","THPO","TMCO1","TMEM218","TMEM237","TMEM270","TMEM53","TMEM67","TNFRSF11A","TNNI2","TNNT3","TOGARAM1","TONSL","TP53","TPM2","TRAPPC2","TRIP11","TRPV4","TWIST1","UBE3B","UFSP2","UROS","USP48","USP8","VANGL1","VANGL2","VDR","VPS35L","VPS37D","WASHC5","WBP11","WDR35","WNT1","WNT3","WNT3A","WNT4","WNT5A","WNT7A","XYLT1","XYLT2","ZBTB20","ZIC2","ZIC3","ZSWIM7"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PARALYSIS":{"collection":"C5:HPO","systematicName":"M36315","pmid":"","exactSource":"HP:0003470","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003470","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PARALYSIS","geneSymbols":["ABCB6","ACTB","ADCY6","ADGRG1","ALAD","ALDH18A1","ALOX12B","ALOXE3","ALS2","ANG","ANXA11","ATP1A2","ATXN2","ATXN3","B4GALNT1","BAG3","BCHE","CA2","CACNA1A","CACNA1S","CAMK2B","CCNF","CD59","CDH23","CFAP410","CHCHD10","CHMP2B","CLCN7","CLCNKB","CNTNAP1","COL4A1","CPOX","CYP27A1","DAO","DCTN1","DKK1","DLST","DNMT3A","DST","EEF2","ELN","EMD","EPAS1","EPHA4","ERBB4","FAH","FGFR1","FH","FHL1","FIG4","FUS","GAA","GABRA3","GBA1","GDAP1","GIPC1","GLE1","GLT8D1","GM2A","HAAO","HK1","HMBS","HNRNPA1","HSPB1","HSPB8","HTRA1","IGHMBP2","JAG1","KCNE3","KCNJ18","KCNJ2","KCNJ5","KIF1B","KRAS","LMNA","LMNB1","LONP1","LRP12","MATR3","MAX","MDH2","MEGF10","MFN2","MLXIPL","MORC2","MTRFR","MYCN","MYH14","NEFH","NEK1","NF1","NFU1","NONO","NOTCH2NLC","NOTCH3","NUS1","OPTN","PDCD10","PFN1","PI4KA","PMP22","POLA1","POLG","PON1","PON2","PON3","PPARGC1A","PPOX","PRPH","PRRT2","PRX","RARS1","REEP1","RET","RILPL1","SBF2","SCN1A","SCN4A","SDHA","SDHAF2","SDHB","SDHC","SDHD","SEC31A","SETBP1","SH3TC2","SLC12A3","SLC25A11","SLC25A19","SLC2A1","SLC52A3","SLC5A7","SOD1","SQSTM1","SRPX2","SYNE1","SYNE2","TAF15","TARDBP","TBK1","TCIRG1","TGM6","TMEM127","TMEM43","TNFSF11","TNNC2","TPI1","TRAPPC12","TREM2","TRIM2","TRPM7","TRPV4","UBQLN2","UNC13A","VAPB","VCP","VHL","ZFYVE26","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPOCALCEMIC_TETANY":{"collection":"C5:HPO","systematicName":"M41286","pmid":"","exactSource":"HP:0003472","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003472","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOCALCEMIC_TETANY","geneSymbols":["CTNS","DMP1","ENPP1","FAM111A","GNAS","STX16","TBCE"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SOMATIC_SENSORY_DYSFUNCTION":{"collection":"C5:HPO","systematicName":"M36316","pmid":"","exactSource":"HP:0003474","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003474","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SOMATIC_SENSORY_DYSFUNCTION","geneSymbols":["AARS1","AASS","ABCA1","ABCD1","ABHD12","ADA2","ADCY6","ADSS1","AEBP1","AFG3L2","AIFM1","AIP","ALAD","ALDH18A1","ALDH4A1","ALMS1","ALS2","AMPD2","APP","APTX","ARSI","ATL1","ATL3","ATN1","ATP13A2","ATP1A1","ATP1A2","ATP2A1","ATP7A","ATP7B","ATXN1","ATXN10","ATXN2","ATXN3","ATXN7","ATXN8OS","B4GALNT1","BAG3","BEAN1","BMPR1A","BSCL2","C19orf12","C4A","CACNA1A","CACNA1G","CACNA2D1","CADM3","CALR","CAMTA1","CAPN1","CASR","CAV1","CAV3","CBLIF","CCND1","CCR1","CCT5","CDKL5","CHAMP1","CHCHD10","CHP1","CHST14","CLCNKB","CLTCL1","COA7","COL1A1","COMP","COQ6","COX6A1","CPT1C","CSF1R","CTDP1","CUBN","CYP27A1","CYP7B1","DAB1","DARS2","DCAF8","DDHD1","DEAF1","DEPDC5","DHH","DHTKD1","DKK1","DNAJB2","DNAJC3","DNM1L","DNM2","DSE","DYNC1H1","DYSF","EBF3","EEF2","EGR2","ELOVL5","ELP1","EPCAM","ERAP1","ERBB3","ERLIN2","EXT1","EXT2","FAN1","FAR1","FAS","FBLN5","FBN1","FGD4","FGF14","FIG4","FLI1","FLII","FLNC","FLRT1","FLVCR1","FMR1","FXN","GABBR2","GABRG2","GALC","GAN","GARS1","GATA1","GBA2","GBE1","GBF1","GCH1","GDAP1","GJB1","GJC2","GLA","GMPPA","GNA11","GNA14","GNAS","GNB4","GPI","GPR101","GRIA3","GRIN2A","H19","HARS1","HAX1","HDAC4","HERC2","HEXB","HINT1","HK1","HLA-B","HLA-DQB1","HLA-DRB1","HMBS","HNRNPK","HPDL","HPGD","HRAS","HSPB1","HSPB8","HSPD1","HTRA1","IARS2","IBA57","IFNGR1","IFRD1","IGF2","IGHMBP2","IL10","IL12A","IL12A-AS1","IL23R","IL6ST","IMPDH2","INF2","IQSEC2","IRF2BPL","ITPR3","JAG1","JAK2","JPH1","KARS1","KCNC3","KCND3","KCNJ1","KCNQ1OT1","KDM5C","KIF1A","KIF1B","KIF5A","KLC2","KLHL9","KLRC4","KNSTRN","KPNA3","KRAS","KRT1","KRT14","KRT16","KRT5","KRT9","LIFR","LIG3","LITAF","LMNA","LMNB1","LMX1B","LRSAM1","LYST","LZTR1","MADD","MAG","MAGEL2","MAPT","MARS1","MATR3","MCM3AP","MECP2","MED25","MEFV","MEN1","MFN2","MKRN3","MLH1","MLH3","MME","MORC2","MPL","MPV17","MPZ","MSH2","MSH6","MSTO1","MT-ATP6","MT-TE","MTHFR","MTMR2","MTRFR","MTTP","MYH14","MYORG","NAGA","NAGLU","NALCN","NARS1","NDN","NDRG1","NEFH","NEFL","NF2","NGF","NGLY1","NIPA1","NKX6-2","NLRP3","NOP56","NOTCH2NLC","NPAP1","NPRL2","NPRL3","NR4A2","NTNG1","NTRK1","OCA2","OPA3","P4HA2","PDCD1","PDK3","PDXK","PDYN","PEX10","PEX16","PEX6","PEX7","PGM3","PHYH","PI4KA","PIEZO2","PIK3CA","PIK3CD","PIK3R5","PLD3","PLEKHG4","PLEKHG5","PLOD1","PMP2","PMP22","PMS1","PMS2","PNKP","PNPT1","POLG","POLR3A","POLR3B","POU4F1","PPOX","PRDM12","PRDX3","PRKCG","PRNP","PRORP","PRPS1","PRRT2","PRX","PSAP","PTPN22","PWAR1","PWRN1","RAB7A","RAI1","RASA1","REEP1","REEP2","RELA","RETREG1","RFC1","RFX7","RIPOR2","RNASEH1","RNF170","RPS20","RRM2B","RTN2","SACS","SAMD9L","SAR1B","SBF1","SBF2","SCN10A","SCN11A","SCN1A","SCN4A","SCN9A","SCO2","SCP2","SCYL1","SDHA","SEMA4A","SEPTIN9","SERPING1","SERPINI1","SETX","SH2B3","SH3TC2","SHANK3","SIM1","SLC12A1","SLC12A3","SLC12A6","SLC19A2","SLC25A15","SLC25A19","SLC25A46","SLC26A2","SLC2A1","SLC33A1","SLCO2A1","SMARCB1","SMC1A","SNORD115-1","SNORD116-1","SNRPN","SORD","SOX10","SPART","SPAST","SPG11","SPG7","SPTBN2","SPTLC1","SPTLC2","SRPX2","STAT4","STUB1","STX16","SYNE1","SYNGAP1","SYT2","TBP","TDP1","TET2","TFG","TGFBR2","TGM1","TGM6","THPO","TK2","TLR4","TMEM218","TNFRSF1A","TP53","TPP1","TRAPPC2","TRIM32","TRIO","TRPM3","TRPV4","TTPA","TTR","TWNK","TYMP","UBAC2","UBAP1","UBTF","UCHL1","UNC80","UROD","UROS","VAMP1","VCP","VPS13A","VPS13D","VPS37A","VPS41","VWA1","WASHC5","WDR48","WNK1","XK","XPA","XRCC1","YARS1","YY1","ZEB2","ZFHX2","ZFTA","ZFYVE26"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SEGMENTAL_PERIPHERAL_DEMYELINATION_REMYELINATION":{"collection":"C5:HPO","systematicName":"M36318","pmid":"","exactSource":"HP:0003481","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003481","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEGMENTAL_PERIPHERAL_DEMYELINATION_REMYELINATION","geneSymbols":["DNM2","EGR2","GBF1","LITAF","MPZ","MT-ATP6","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND5","MT-ND6","MT-TK","MT-TL1","MT-TV","MT-TW","NDRG1","NEFL","PMP22","PRPS1","PRX","SBF2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_EMG_AXONAL_ABNORMALITY":{"collection":"C5:HPO","systematicName":"M36319","pmid":"","exactSource":"HP:0003482","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003482","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EMG_AXONAL_ABNORMALITY","geneSymbols":["ANO5","ANXA11","ATP13A2","CYP27A1","DNM2","GNE","LMNA","MTMR14","NR4A2","OPTN","PDK3","SETX","SGCG","SPG11","TFG"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_UPPER_LIMB_MUSCLE_WEAKNESS":{"collection":"C5:HPO","systematicName":"M36320","pmid":"","exactSource":"HP:0003484","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003484","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UPPER_LIMB_MUSCLE_WEAKNESS","geneSymbols":["ACTA1","ADAR","ADSS1","AGRN","AK9","AKT1","ANO5","ANXA11","B4GALNT1","BAP1","BIN1","BSCL2","CADM3","CCND1","CHCHD10","CHRNA1","CHRNB1","CHRND","CHRNE","COL13A1","COL25A1","CPOX","CRPPA","CYP7B1","DNM2","DNMT3B","DOK7","DYSF","EGR2","EMD","ERGIC1","FARS2","FBXO38","FGD4","FHL1","GALC","GARS1","GDAP1","GIPC1","GMPPB","GYG1","HEXB","HMBS","IGHMBP2","JAG1","JAG2","KIF5A","KY","LAMA2","LDB3","LIPE","LMNA","LPIN1","LRP12","LRP4","MFN2","MORC2","MPZ","MT-ATP6","MT-CO1","MT-CO3","MTMR14","MTRFR","MUSK","MYF6","NEFH","NEFL","NF2","NOTCH2NLC","NUP54","NUP62","OBSCN","PDGFB","PDXK","PIEZO2","PIK3CA","PLOD1","POMT1","POU3F4","PPOX","RAPSN","REEP1","RILPL1","RYR1","SBF1","SBF2","SCN4A","SCYL2","SGCG","SH3TC2","SLC12A6","SMARCB1","SMARCE1","SMO","SMPX","SPART","SPG11","SPG7","SUFU","SYNE1","SYNE2","TCAP","TERT","TFG","TMEM43","TRAF7","TRPV4","VAPB","VCP","VHL","VWA1","YARS1","ZFYVE26"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BABINSKI_SIGN":{"collection":"C5:HPO","systematicName":"M36321","pmid":"","exactSource":"HP:0003487","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003487","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BABINSKI_SIGN","geneSymbols":["AAAS","AARS1","AARS2","ABCB7","ABCD1","ABHD12","ABHD16A","ACOX1","ADAR","ADGRG1","ADPRS","AFG3L2","AIFM1","ALDH18A1","ALS2","AMPD2","ANO10","ANXA11","AP4B1","AP4E1","AP4M1","AP4S1","APOE","ARSA","ARX","ASPA","ATG5","ATL1","ATP13A2","ATP2B3","ATP6AP2","ATP7A","ATXN1","ATXN10","ATXN2","ATXN3","ATXN7","B4GALNT1","BICD2","BRAT1","BSCL2","C19orf12","CACNA1A","CACNA1G","CAMSAP1","CAPN1","CAV1","CCT5","CHCHD10","CHMP2B","CHP1","CLDN11","CNP","CNTNAP1","COL4A1","COQ2","COX20","CPT1C","CTDP1","CTSF","CWF19L1","CYP27A1","CYP2U1","CYP7B1","DARS1","DARS2","DDC","DDHD1","DDHD2","DEGS1","DKK1","DLAT","DNAJC3","DNMT1","DPM3","DSTYK","DTYMK","EARS2","EEF2","EIF2AK2","EIF2S3","ELOVL1","ERCC6","ERLIN1","ERLIN2","ETHE1","FA2H","FAR1","FARS2","FBXO7","FGF13","FTL","FUS","FXN","GALC","GAN","GBA2","GCH1","GFAP","GFM2","GJB1","GJC2","GLRX5","GPT2","GRIA3","GRID2","HADHA","HADHB","HPDL","HSPD1","HTRA1","HTT","HYCC1","IBA57","IMPDH2","IREB2","IRF2BPL","JAM2","KCNA1","KCNA4","KDM5C","KIF1A","KIF1C","KIF5A","KLC2","KPNA3","KY","LARGE1","LETM1","LMNB1","LYRM7","MAG","MAN2B1","MCOLN1","MDH2","MECP2","MECR","MFN2","MORC2","MPZ","MT-ATP6","MT-TE","MTPAP","MTRFR","MTTP","NDE1","NDUFA4","NDUFS1","NDUFS4","NEFH","NEFL","NFASC","NIPA1","NOP56","NR4A2","NT5C2","NUBPL","NUP54","NUP62","OPA1","OPA3","PANK2","PARS2","PCYT2","PDYN","PET117","PEX16","PGAP1","PI4KA","PIGA","PIGT","PIK3R5","PLA2G6","PLAA","PLP1","PMP2","PMP22","PNPLA6","PNPT1","POLG","POLR3A","POLR3B","PRICKLE1","PRNP","PRPS1","PRSS12","PSAP","PSEN1","PYCR2","RARS1","REEP1","REEP2","RFC1","RNASEH1","RNF170","RTN2","RUSC2","SACS","SAMD9L","SDHA","SDHAF1","SDHB","SDHD","SELENOI","SEPSECS","SETX","SHMT2","SIGMAR1","SLC16A2","SLC19A3","SLC1A2","SLC1A4","SLC25A46","SLC2A1","SLC2A3","SLC33A1","SLC39A14","SLC44A1","SLC9A7","SNCA","SNX14","SOD1","SPART","SPAST","SPG11","SPG21","SPG7","SQSTM1","STUB1","SYNE1","TAF2","TANGO2","TARDBP","TBC1D20","TBK1","TFG","TGM6","TH","TIMM8A","TMEM63A","TMEM63C","TOR1A","TPP1","TREM2","TRMT5","TSEN15","TSEN2","TSEN34","TSEN54","TSPOAP1","TTC19","TWNK","TYROBP","UBAP1","UCHL1","UFC1","UGDH","VAMP1","VCP","VPS13D","WASHC5","WWOX","ZFR","ZFYVE26","ZFYVE27"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ANTINUCLEAR_ANTIBODY_POSITIVITY":{"collection":"C5:HPO","systematicName":"M36322","pmid":"","exactSource":"HP:0003493","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003493","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANTINUCLEAR_ANTIBODY_POSITIVITY","geneSymbols":["ACP5","ANKRD55","ARPC1B","BANK1","BLK","C1QB","C1QC","C4A","C4B","CARD10","CASP10","CD247","COPA","CR2","CRYAB","CTLA4","DNASE1","DNASE1L3","EIF2AK4","ETS1","FAS","FASLG","FCGR2A","FCGR2B","FCGR3B","HLA-DRB1","IGHG1","IL10","IL12A","IL12RB1","IL2RA","IL2RB","IRAK1","IRF5","ITGAM","JAZF1","KIAA0319L","LACC1","LBR","MECP2","MMEL1","MMP2","MS4A1","NLRP1","PDCD1","PLCG2","POMP","POU2AF1","PRKCD","PTPN2","PTPN22","PXK","RASGRP1","RIPK1","SAT1","SLC7A7","SOCS1","SPIB","SPP1","STAT4","STING1","TLR7","TNFAIP3","TNFSF15","TNFSF4","TNIP1","TNPO3","TREX1","UBE2L3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INCREASED_CIRCULATING_IGM_LEVEL":{"collection":"C5:HPO","systematicName":"M36323","pmid":"","exactSource":"HP:0003496","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003496","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_CIRCULATING_IGM_LEVEL","geneSymbols":["AICDA","CASP10","CD247","CD40","CD40LG","DNMT3B","FAS","FASLG","GPR35","IFNGR1","IKBKG","IL12A","IL12RB1","IRF5","KLHDC8B","MMEL1","MST1","MYD88","NFKBIA","NSMCE3","OTULIN","PGM3","PIK3CD","PIK3R1","POU2AF1","PTEN","RASGRP1","SEMA4D","SH2D1A","SPIB","SPPL2A","TCF4","TNFSF15","TNPO3","TPP2","UNG","VPS33A","XIAP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DISPROPORTIONATE_SHORT_STATURE":{"collection":"C5:HPO","systematicName":"M36324","pmid":"","exactSource":"HP:0003498","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003498","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DISPROPORTIONATE_SHORT_STATURE","geneSymbols":["ACAN","ACP5","AGPS","ALG12","ALG9","ALPL","ARCN1","ARSB","ARSK","ASXL1","B3GAT3","B3GLCT","BGN","BMPER","BMPR1B","BRF1","CANT1","CCN6","CEP120","CEP57","CFAP410","CHST3","CLPB","COG1","COL10A1","COL11A1","COL11A2","COL1A1","COL1A2","COL2A1","COMP","CREB3L1","CRTAP","CSGALNACT1","CSPP1","CTSK","DDR2","DDRGK1","DHCR24","DHCR7","DLL3","DVL1","DYM","DYNC2H1","DYNC2I1","DYNC2I2","DYNC2LI1","EBP","EVC","EVC2","EXTL3","FGFR1","FGFR2","FGFR3","FLNB","FN1","FZD2","GALNS","GDF5","GLB1","GLI1","GNPAT","GPC6","GPX4","GSC","HDAC6","HS2ST1","HSPG2","IFT122","IFT140","IFT43","IFT52","IFT80","IHH","INPPL1","KDELR2","KIAA0586","KIAA0753","KIF22","KMT2A","KYNU","LBR","MAB21L2","MATN3","MBTPS2","MESD","MESP2","MIR140","MMP13","MTOR","MYSM1","NKX3-2","NPR2","NSMCE2","NXN","P3H1","PCNT","PCYT1A","PEX7","PHEX","PKDCC","POC1A","PPIB","PRKACA","PRKACB","PRKAR1A","PRKG2","PTH1R","PUF60","RAB33B","RMRP","RNU4ATAC","ROR2","RSPRY1","SERPINH1","SHOX","SIK3","SLC10A7","SLC26A2","SLC35D1","SLC39A8","SMARCAL1","SOX9","TBX15","TBX6","TONSL","TRAPPC2","TRIP11","TRPV4","WDR19","WDR35","WNT5A","WNT7A","XRCC4","XYLT1","XYLT2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MILD_SHORT_STATURE":{"collection":"C5:HPO","systematicName":"M36325","pmid":"","exactSource":"HP:0003502","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003502","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MILD_SHORT_STATURE","geneSymbols":["AGO1","CAMK2G","CANT1","CHST11","COL10A1","COL1A1","COL9A2","COL9A3","COMP","DOCK3","EVC","EVC2","FGD1","IDS","LBR","MATN3","PCGF2","PDE4D","RTTN","SMARCA2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PROPORTIONATE_SHORT_STATURE":{"collection":"C5:HPO","systematicName":"M36326","pmid":"","exactSource":"HP:0003508","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003508","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROPORTIONATE_SHORT_STATURE","geneSymbols":["ACAN","ADAMTS10","ADAMTS2","ADAMTSL2","AGO1","AMER1","ANTXR2","ARSL","ATP11A","ATR","B3GALT6","BRAF","BRF1","CAMK2G","CANT1","CDC45","CDC6","CDT1","CENPJ","CENPT","CHST11","CKAP2L","COL10A1","COL1A1","COL1A2","COL2A1","COL9A2","COL9A3","COMP","COX7B","CRIPT","CSGALNACT1","CTNNB1","CTSA","DDRGK1","DHCR24","DLL3","DLX5","DNMT3A","DOCK3","DPP9","DVL1","DVL3","DYM","EFEMP2","EPRS1","ERCC4","ERCC6","ESCO2","EVC","EVC2","FAM111A","FBLN5","FBN1","FGD1","FGFR1","FGFR3","FLNB","FZD2","GH1","GHR","GHRHR","GLB1","GMNN","GORAB","GUSB","HADH","HCCS","HHAT","HOXD13","HSPA9","HSPG2","IDS","IGF1R","INPP5K","INPPL1","KAT6B","KIF11","LARP7","LBR","LTBP1","LTBP3","LYSET","MAP3K7","MATN3","MBTPS2","MESP2","MIA3","NDUFB11","NEPRO","NIN","NPR2","NSMCE2","OBSL1","ORC1","ORC4","ORC6","PCGF2","PCYT1A","PDE4D","PEX7","PIEZO2","PIK3R1","PNPLA6","POLE","PPP1R15B","PTCD3","PTDSS1","PTH1R","PYCR1","RECQL4","RMRP","RNU4ATAC","RPL13","RTTN","RUNX2","SALL4","SCNN1A","SCNN1B","SCNN1G","SDHA","SDHAF1","SDHB","SDHD","SELENOI","SGMS2","SHOX","SIL1","SLC26A2","SLC39A13","SMAD4","SMARCA2","SON","STAT5B","STRA6","TBCE","TBX6","TCTN3","TKT","TRIP11","TRMT10A","TRPV4","WNT5A","XYLT1","ZBTB18"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SEVERE_SHORT_STATURE":{"collection":"C5:HPO","systematicName":"M36327","pmid":"","exactSource":"HP:0003510","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003510","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEVERE_SHORT_STATURE","geneSymbols":["ADAMTS2","ADAMTSL2","AMER1","ANTXR2","ATP11A","B3GALT6","BRF1","CANT1","CDC45","CDC6","CDT1","CENPJ","CENPT","CKAP2L","COL1A1","COL1A2","COL2A1","COMP","COX7B","CRIPT","CSGALNACT1","CTSA","DDRGK1","DHCR24","DLL3","DLX5","DNMT3A","DVL1","DVL3","DYM","EFEMP2","EPRS1","ERCC4","ERCC6","ESCO2","FAM111A","FBLN5","FBN1","FGFR1","FGFR3","FLNB","FZD2","GH1","GHR","GHRHR","GLB1","GMNN","GORAB","GUSB","HCCS","HHAT","HSPA9","HSPG2","IDS","IGF1R","INPP5K","INPPL1","KAT6B","KIF11","LARP7","LTBP1","LTBP3","LYSET","MAP3K7","MBTPS2","MESP2","NDUFB11","NEPRO","NIN","NSMCE2","OBSL1","ORC1","ORC4","ORC6","PCYT1A","PEX7","PIEZO2","PIK3R1","PNPLA6","POLE","PTCD3","PTDSS1","PTH1R","PYCR1","RECQL4","RMRP","RNU4ATAC","RPL13","RTTN","SALL4","SDHA","SDHAF1","SDHB","SDHD","SGMS2","SHOX","SIL1","SLC26A2","SMAD4","SMARCA2","STAT5B","STRA6","TBX6","TCTN3","TRIP11","TRPV4","WNT5A","XYLT1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BIRTH_LENGTH_GREATER_THAN_97TH_PERCENTILE":{"collection":"C5:HPO","systematicName":"M36328","pmid":"","exactSource":"HP:0003517","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003517","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BIRTH_LENGTH_GREATER_THAN_97TH_PERCENTILE","geneSymbols":["GPC3","GPC4","MTM1","PIGA","SUZ12"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DISPROPORTIONATE_SHORT_TRUNK_SHORT_STATURE":{"collection":"C5:HPO","systematicName":"M36329","pmid":"","exactSource":"HP:0003521","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003521","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DISPROPORTIONATE_SHORT_TRUNK_SHORT_STATURE","geneSymbols":["ACP5","ARSB","ARSK","BGN","BMPER","BRF1","CCN6","CFAP410","CHST3","COL2A1","DLL3","DYM","FLNB","FN1","GALNS","GLB1","KIF22","MESP2","NKX3-2","PUF60","RAB33B","RSPRY1","SMARCAL1","TBX6","TRAPPC2","TRIP11","TRPV4","XYLT2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPERPROSTAGLANDINURIA":{"collection":"C5:HPO","systematicName":"M45408","pmid":"","exactSource":"HP:0003527","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003527","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERPROSTAGLANDINURIA","geneSymbols":["BSND","CLCNKA","CLCNKB","KCNJ1","SLC12A1","SLCO2A1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ELEVATED_CIRCULATING_CALCITONIN_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M36330","pmid":"","exactSource":"HP:0003528","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003528","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELEVATED_CIRCULATING_CALCITONIN_CONCENTRATION","geneSymbols":["CDKN1A","CDKN1B","CDKN2B","CDKN2C","DLST","FH","GNAS","KIF1B","MAX","MDH2","MEN1","NF1","PRKAR1A","RET","SDHA","SDHAF2","SDHB","SDHC","SDHD","SLC25A11","TMEM127","VHL"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ELEVATED_CIRCULATING_GLUTARIC_ACID_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M36331","pmid":"","exactSource":"HP:0003530","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003530","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELEVATED_CIRCULATING_GLUTARIC_ACID_CONCENTRATION","geneSymbols":["DNAJC19","ETFA","ETFB","ETFDH","GCDH","SUGCT"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_3_METHYLGLUTACONIC_ACIDURIA":{"collection":"C5:HPO","systematicName":"M36332","pmid":"","exactSource":"HP:0003535","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003535","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_3_METHYLGLUTACONIC_ACIDURIA","geneSymbols":["AGK","ATAD3A","ATP5F1A","ATP5F1D","ATP5F1E","ATP5MK","ATPAF1","ATPAF2","AUH","CLPB","DNAJC19","FDX2","HTRA2","LETM1","MICOS13","MT-ATP6","MT-ATP8","MT-TL1","NGLY1","OPA3","POLG","SDHA","SERAC1","SUCLG1","TAFAZZIN","TIMM50","TMEM70"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPOURICEMIA":{"collection":"C5:HPO","systematicName":"M36333","pmid":"","exactSource":"HP:0003537","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003537","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOURICEMIA","geneSymbols":["ATP7B","CTNS","EHHADH","GATM","GPHN","HNF4A","MOCOS","MOCS1","MOCS2","NDUFAF6","PNP","PRPS1","SLC22A12","SLC2A2","SLC2A9","SLC34A1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_IMPAIRED_PLATELET_AGGREGATION":{"collection":"C5:HPO","systematicName":"M47080","pmid":"","exactSource":"HP:0003540","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003540","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRED_PLATELET_AGGREGATION","geneSymbols":["ABCG8","ACTN1","AP3B1","BLOC1S3","BLOC1S5","CALR","CISD2","DIAPH1","DTNBP1","EPHB2","FLI1","GATA1","GFI1B","GP1BA","GP1BB","GP6","GP9","HPS3","HPS5","HPS6","IKZF5","ITGA2B","ITGB3","KCNJ1","LCP2","MGAT2","MYH9","NBEAL2","P2RY12","PLA2G4A","PLAU","RASGRP2","RUNX1","SH2B3","TBXA2R","THPO","TUBB1","VWF"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_EXERCISE_INTOLERANCE":{"collection":"C5:HPO","systematicName":"M36336","pmid":"","exactSource":"HP:0003546","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003546","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EXERCISE_INTOLERANCE","geneSymbols":["ABCC9","ACAD9","ACTA1","ACTC1","AGK","ALDH4A1","ATP5F1A","ATP5F1D","ATP5F1E","ATP5MK","ATPAF1","ATPAF2","BCS1L","BICD2","BVES","C1QBP","CAVIN1","CCDC78","CHCHD10","CITED2","COA3","COL12A1","COL13A1","COL9A1","COL9A2","COL9A3","COMP","COQ8A","CPT2","DMD","DNA2","ENO3","FARSA","FARSB","FLAD1","GAA","GATA4","GATA5","GATA6","GCDH","GJA5","GMPPB","GYS1","HADHA","HADHB","HINT1","ISCU","KBTBD13","KCNA5","KCNE1","KCNE2","KCNJ2","KCNJ3","KCNJ5","KCNQ1","KLHL41","LAMP2","LDHA","MGME1","MIEF2","MLIP","MRPS2","MT-ATP6","MT-ATP8","MT-CO1","MT-CO2","MT-CO3","MT-CYB","MT-ND1","MT-ND4","MT-ND5","MT-ND6","MT-TE","MT-TF","MT-TH","MT-TK","MT-TL1","MT-TN","MT-TQ","MT-TS1","MT-TS2","MT-TW","MYH6","MYL4","MYPN","NDUFS4","NEB","NKX2-5","NKX2-6","NPPA","NUP155","OBSCN","PFKM","PGAM2","PGK1","PGM1","PHKA1","PHKA2","PHKB","PHKG2","PIEZO2","PITX2","PNPLA2","POLG","POLG2","POLR2A","PUS1","PYGL","PYGM","RNASEH1","RRM2B","RSPH4A","RSPH9","SCN1B","SCN2B","SCN3B","SCN4B","SCN5A","SDHA","SLC18A3","SLC22A12","SLC25A32","SLC25A4","SLC2A9","SURF1","SVIL","TAFAZZIN","TBX20","TK2","TLL1","TMEM126B","TOP3A","TPM2","TPM3","TRMT5","TTN","TWNK","YARS2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SHOULDER_GIRDLE_MUSCLE_WEAKNESS":{"collection":"C5:HPO","systematicName":"M36337","pmid":"","exactSource":"HP:0003547","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003547","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHOULDER_GIRDLE_MUSCLE_WEAKNESS","geneSymbols":["ABHD5","ACTA1","AGRN","AK9","ANO5","BICD2","CFL2","CHRNA1","CHRNB1","CHRND","CHRNE","COL13A1","CRYAB","DNA2","DNAJB6","DOK7","DYSF","FKRP","FRG1","GALC","GDAP1","GNE","GYG1","HACD1","HNRNPDL","ITGA7","LRIF1","LRP4","MAP3K20","MATR3","MT-TE","MUSK","MYH7","MYL2","MYOT","PLIN4","PNPLA2","POLG","POLG2","PSAP","RAPSN","RRM2B","RYR1","SCN4A","SELENON","SLC25A4","SMN1","SMN2","TNNT1","TNPO3","TPM2","TPM3","TRIM32","TTN","TWNK","VCP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SUBSARCOLEMMAL_ACCUMULATIONS_OF_ABNORMALLY_SHAPED_MITOCHONDRIA":{"collection":"C5:HPO","systematicName":"M36338","pmid":"","exactSource":"HP:0003548","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003548","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUBSARCOLEMMAL_ACCUMULATIONS_OF_ABNORMALLY_SHAPED_MITOCHONDRIA","geneSymbols":["ISCU","PNPT1","POLG","SLC25A4","TWNK","TYMP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_CONNECTIVE_TISSUE":{"collection":"C5:HPO","systematicName":"M47081","pmid":"","exactSource":"HP:0003549","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003549","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_CONNECTIVE_TISSUE","geneSymbols":["AARS1","ABCA4","ABCC6","ABCC8","ABCC9","ABCD1","ABCD4","ABHD12","ABL1","ACADM","ACADS","ACER3","ACP4","ACTA1","ACTA2","ACTB","ACTC1","ACTG2","ACTN2","ADA2","ADAMTS2","ADAMTS3","ADAMTSL2","ADAR","ADAT3","ADCY6","ADGRG1","ADGRG6","ADGRV1","ADNP","AEBP1","AGA","AGBL5","AGGF1","AGPAT2","AGRN","AGTPBP1","AHI1","AHR","AHSG","AIFM1","AIMP1","AIMP2","AIRE","AKT1","AKT2","ALAD","ALB","ALDH18A1","ALDH1A2","ALDH3A2","ALG1","ALG11","ALG12","ALG13","ALG14","ALG2","ALG3","ALG8","ALG9","ALMS1","ALPL","ALS2","ALX1","ALX3","AMBN","AMELX","AMER1","AMH","AMHR2","AMTN","ANAPC1","ANAPC7","ANGPT2","ANKH","ANKLE2","ANKRD1","ANKRD55","ANO5","ANTXR1","ANTXR2","AP1S2","AP2S1","AP4B1","AP4E1","AP4S1","APC","APC2","AR","ARF1","ARFGEF2","ARHGEF18","ARID1A","ARID1B","ARID2","ARL2BP","ARL3","ARL6","ARMC5","ARPC1B","ARPC4","ARSB","ARVCF","ARX","ASAH1","ASCC1","ASXL1","ASXL3","ATAD1","ATP11A","ATP1A2","ATP2A1","ATP5F1D","ATP6V0A2","ATP6V1A","ATP6V1E1","ATP7A","ATP7B","ATPAF2","ATR","ATRIP","ATRX","AUTS2","AXIN2","B3GALT6","B3GAT3","B3GLCT","B4GALT7","B9D2","BAG3","BAG5","BANF1","BAZ1B","BBS1","BBS2","BCAS3","BCL11B","BCL7B","BCOR","BCR","BEST1","BGN","BHLHA9","BICD2","BIN1","BLM","BLNK","BLTP1","BMP1","BMPER","BMPR1A","BRAF","BRAT1","BRCA1","BRCA2","BRD4","BRF1","BRIP1","BRPF1","BSCL2","BTK","BTNL2","BUB1","BUD23","C18orf32","C19orf12","C1R","C1S","CA4","CACNA1A","CACNA1C","CACNA1E","CADM3","CAMLG","CAMSAP1","CAMTA1","CANT1","CAP2","CAPN3","CARMIL2","CARS1","CASK","CASP10","CASZ1","CAV1","CAVIN1","CBS","CC2D2A","CCBE1","CCDC134","CCDC22","CCDC32","CCDC47","CCDC8","CCL2","CCN2","CCN6","CCR6","CD247","CD79A","CD79B","CD96","CDC42","CDC42BPB","CDC45","CDC6","CDC73","CDCA7","CDH11","CDH23","CDH3","CDHR1","CDK13","CDK5","CDKL5","CDKN1A","CDKN1B","CDKN1C","CDKN2B","CDKN2C","CDON","CDT1","CENPE","CENPJ","CEP120","CEP152","CEP55","CERKL","CFAP418","CFI","CFL2","CHAMP1","CHAT","CHCHD10","CHD3","CHD7","CHMP1A","CHN1","CHRNA1","CHRNB1","CHRND","CHRNE","CHRNG","CHST14","CHST3","CHUK","CIB2","CIDEC","CLCF1","CLCN3","CLCN4","CLCNKB","CLDN1","CLDN11","CLDN19","CLEC7A","CLIC2","CLIP2","CLMP","CLPB","CLRN1","CNGA1","CNGB1","CNNM4","CNTN1","CNTNAP1","COASY","COG1","COG5","COG6","COL11A1","COL11A2","COL12A1","COL13A1","COL17A1","COL1A1","COL1A2","COL25A1","COL2A1","COL3A1","COL5A1","COL5A2","COL6A1","COL6A2","COL6A3","COL7A1","COLEC10","COLEC11","COMT","COQ6","COQ7","COX11","COX7B","CPLX1","CPOX","CPT2","CRB1","CREBBP","CRKL","CRLF1","CRPPA","CRTAP","CRX","CRYAB","CSGALNACT1","CSNK2A1","CSRP3","CTBP1","CTCF","CTDP1","CTNND2","CTSC","CTSK","CUL4B","CUL7","CWC27","CXCR4","CYBA","CYBB","CYP26C1","CYP27B1","CYP2R1","DACT1","DAG1","DARS2","DCHS1","DCX","DDHD2","DDOST","DDR2","DDX59","DDX6","DEGS1","DES","DGCR2","DGCR6","DGCR8","DHCR24","DHCR7","DHDDS","DHODH","DHX16","DHX38","DIAPH1","DICER1","DIS3L2","DISP1","DLK1","DLL1","DLL3","DLX3","DMD","DMP1","DMXL2","DNA2","DNAJB4","DNAJB6","DNAJC21","DNAJC30","DNASE2","DNM2","DNMT3A","DNMT3B","DOK7","DOLK","DPAGT1","DPF2","DPH1","DPH2","DPM1","DPM2","DPP9","DPYSL5","DSE","DSG2","DSP","DSPP","DST","DUOX2","DUOXA2","DUSP6","DVL1","DVL3","DYM","DYNC2H1","DYNC2I1","DYNC2I2","DYRK1A","DYSF","EBP","ECE1","ECEL1","ECM1","EDA","EDARADD","EED","EFEMP2","EFNB1","EHMT1","EIF4H","EIF5A","ELANE","ELMO2","ELN","ELOVL4","EMD","EMG1","EN1","ENAM","ENPP1","EOGT","EP300","EPB41L1","EPCAM","EPHB4","ERBB3","ERCC1","ERCC2","ERCC3","ERCC4","ERCC5","ERCC6","ERCC8","ERGIC1","ERLIN1","ERLIN2","ERMARD","ESCO2","ESPN","ESS2","EXOC2","EXOC7","EXOC8","EXOSC3","EXOSC5","EXOSC8","EXOSC9","EXT2","EXTL3","EYS","EZH2","F8","FAM111B","FAM161A","FAM20A","FAM20C","FAM83H","FAN1","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FARSB","FAS","FASLG","FAT4","FBLN5","FBN1","FBN2","FBXO28","FBXW11","FCSK","FDFT1","FERMT1","FGD1","FGF10","FGF17","FGF3","FGF8","FGFR1","FGFR2","FGFR3","FH","FHL1","FHL2","FIBP","FIG4","FITM2","FKBP10","FKBP14","FKBP6","FKRP","FKTN","FLCN","FLI1","FLNA","FLNB","FLNC","FLRT1","FLT4","FLVCR1","FLVCR2","FOCAD","FOS","FOXC2","FOXE3","FOXF1","FOXH1","FOXP1","FRAS1","FREM1","FREM2","FSCN2","FTO","FUCA1","FUS","FUT8","FUZ","FXYD2","FZD2","G6PC3","GABRD","GAD1","GALNS","GALNT3","GARS1","GAS1","GATA1","GATA2","GATA4","GATA6","GATAD1","GBA1","GBE1","GCH1","GCK","GCM2","GDAP1","GDF1","GDF11","GDF5","GFI1","GFM2","GFPT1","GJA1","GJA5","GJA8","GJB1","GJB2","GJB6","GJC2","GLB1","GLDN","GLE1","GLI2","GLI3","GLIS3","GLRA1","GLRB","GLUL","GMNN","GMPPB","GNA11","GNAO1","GNAS","GNB2","GNE","GNPAT","GNPTAB","GNRH1","GNRHR","GNS","GOLGA2","GON7","GORAB","GP1BB","GPC3","GPC4","GPC6","GPHN","GPKOW","GPR68","GPT2","GRHL2","GRIA4","GRID2","GRIN1","GRIN2B","GRIP1","GRM7","GSC","GTF2E2","GTF2H5","GTF2I","GTF2IRD1","GTF2IRD2","GUCA1B","GUSB","GZF1","H1-4","H19","H3-3A","H4C3","H4C5","H4C9","HACD1","HAND2","HAVCR2","HBA1","HBA2","HCCS","HDAC4","HDAC8","HELLS","HEPACAM","HES7","HESX1","HEXB","HEY2","HGSNAT","HIC1","HIKESHI","HINT1","HIRA","HIVEP2","HK1","HLA-A","HLA-B","HLA-DQA1","HLA-DQB1","HLA-DRB1","HMGA2","HNRNPA1","HOXD13","HPDL","HPGD","HRAS","HS2ST1","HS6ST1","HSPB1","HSPD1","HSPG2","HUWE1","HYAL1","HYLS1","HYMAI","IARS2","IBA57","IDH1","IDH3A","IDH3B","IDS","IDUA","IFIH1","IFITM5","IFNG","IFT122","IFT140","IFT172","IFT43","IFT52","IFT80","IFT81","IFT88","IGF1R","IGF2","IGHM","IGHMBP2","IGLL1","IKBKG","IL17F","IL17RA","IL17RC","IL2RA","IL2RB","IL6R","IL6ST","IMPDH1","IMPDH2","IMPG1","IMPG2","INF2","INPP5E","INPP5K","INS","INSR","IPO8","IRF5","IRF6","IRX5","ISL1","ITCH","ITGA6","ITGA7","ITGB4","ITGB6","IYD","JAG2","JARID2","JMJD1C","JPH2","JUP","KAT6B","KBTBD13","KCNA1","KCNAB2","KCNH1","KCNJ1","KCNJ11","KCNJ2","KCNJ6","KCNJ8","KCNK9","KCNN3","KCNQ1","KCNQ1OT1","KCTD1","KDF1","KDM3B","KDM5B","KDM5C","KDM6A","KIAA0319L","KIAA0586","KIAA0753","KIAA1549","KIDINS220","KIF11","KIF14","KIF15","KIF1A","KIF21A","KIF22","KIF26A","KIF5A","KIF5C","KIF7","KISS1","KISS1R","KIZ","KLC2","KLHL40","KLHL41","KLHL7","KLHL9","KLK4","KLLN","KMT2A","KMT2B","KMT2C","KMT2D","KNSTRN","KRAS","KRT1","KRT14","KRT16","KRT5","KRT9","KY","L1CAM","LAGE3","LAMA2","LAMA3","LAMA4","LAMA5","LAMB3","LAMC2","LARGE1","LBR","LCK","LDB3","LDHD","LEMD2","LEMD3","LETM1","LFNG","LGI4","LHX3","LHX4","LIAS","LIFR","LIMK1","LIMS2","LIPE","LMBR1","LMBRD2","LMF1","LMNA","LMNB1","LMNB2","LMOD1","LMOD2","LMOD3","LMX1B","LONP1","LOX","LPIN2","LRAT","LRP1","LRP2","LRP4","LRP6","LRPPRC","LRRC8A","LSM11","LSS","LTBP1","LTBP3","LTBP4","LUZP1","LZTR1","MAD1L1","MAD2L2","MAF","MAFB","MAGEL2","MAK","MAMLD1","MAN1B1","MAN2B1","MAP1B","MAP3K20","MAP3K7","MAPK1","MAPRE2","MARS1","MASP1","MAT2A","MBTPS1","MBTPS2","MC4R","MCTP2","MDFIC","MECP2","MECR","MED11","MED12","MED13L","MED25","MEFV","MEG3","MEGF10","MEGF8","MEIS2","MEN1","MERTK","MESP2","MET","METTL27","MFAP5","MFN2","MIA3","MID1","MKS1","MLH1","MLH3","MLXIPL","MMP1","MMP14","MMP2","MMP20","MMP23B","MN1","MORC2","MPDU1","MPEG1","MPLKIP","MPV17","MRPS34","MSH2","MSH6","MSL3","MSTO1","MSX1","MT-ND5","MT-RNR1","MT-TE","MT-TF","MT-TH","MT-TK","MT-TL1","MT-TP","MT-TQ","MT-TS1","MT-TS2","MTFMT","MTHFR","MTM1","MTMR14","MTOR","MTRFR","MTX2","MUSK","MYBPC1","MYBPC3","MYH11","MYH2","MYH3","MYH6","MYH7","MYH8","MYL1","MYL11","MYL2","MYLK","MYMK","MYO18B","MYO7A","MYO9A","MYOD1","MYOT","MYPN","MYRF","MYSM1","NAA10","NACC1","NALCN","NARS1","NAT8L","NCAPG2","NCF1","NCF2","NCSTN","NDE1","NDRG1","NDUFA8","NDUFAF4","NDUFAF5","NDUFB11","NEB","NECTIN1","NECTIN4","NEDD4L","NEFL","NEK2","NEK9","NELFA","NEU1","NEUROD2","NEXN","NF1","NF2","NFATC2","NFIA","NFIX","NGLY1","NHLH2","NIPBL","NKAP","NKX2-5","NKX3-2","NLRP1","NLRP3","NMNAT1","NOD2","NODAL","NOG","NOTCH1","NOTCH2","NOTCH3","NPHP3","NPPA","NR2E3","NR2F2","NR3C1","NR4A2","NRCAM","NRL","NSD1","NSD2","NSDHL","NSMF","NSRP1","NSUN2","NT5C2","NTRK1","NUAK2","NUP107","NUP133","NUP188","NUP85","NUP88","NXN","OBSL1","OCLN","OCRL","ODAPH","ODC1","OFD1","OPA1","ORAI1","ORC1","ORC4","ORC6","OSGEP","OTUD5","OTUD6B","OTULIN","P3H1","P4HB","P4HTM","PACS1","PAFAH1B1","PAK2","PALB2","PAX3","PAX7","PAX8","PAX9","PBX1","PCARE","PCDH15","PCNA","PCNT","PCSK1","PDE11A","PDE4D","PDE6A","PDE6B","PDE6G","PDGFRB","PDHA1","PDPN","PDX1","PDXK","PDZD7","PERP","PEX1","PEX2","PEX5","PEX6","PEX7","PGAP1","PHACTR1","PHEX","PHF6","PHGDH","PI4KA","PIEZO1","PIEZO2","PIGA","PIGG","PIGL","PIGN","PIGP","PIGQ","PIGS","PIGW","PIGY","PIK3C2A","PIK3CA","PIK3CD","PIK3R1","PIK3R2","PIP5K1C","PITX1","PKP1","PLA2G6","PLAA","PLAG1","PLAGL1","PLCG2","PLCH1","PLD1","PLEC","PLEKHG5","PLIN1","PLK4","PLN","PLOD1","PLOD2","PLOD3","PLP1","PLXND1","PMM2","PMP22","PMS1","PMS2","PNKP","PNPT1","POGZ","POLA1","POLD1","POLR1B","POLR1C","POLR1D","POLR2A","POLR3A","POLR3GL","POMC","POMGNT1","POMK","POMP","POMT1","POMT2","POP1","POR","PORCN","POU1F1","PPARG","PPCS","PPIB","PPM1D","PPOX","PPP1R12A","PPP1R15B","PPP1R21","PPP2CA","PPP2R1A","PPP2R3C","PPP2R5D","PPP3CA","PPT1","PQBP1","PRCD","PRDM12","PRDM16","PRDM5","PRG4","PRIM1","PRKACA","PRKAR1A","PRKCD","PRKCZ","PRKG1","PRKG2","PROK2","PROKR2","PROM1","PROP1","PRPF3","PRPF31","PRPF4","PRPF6","PRPF8","PRPH2","PRR12","PRUNE1","PSAT1","PSEN1","PSEN2","PSMB4","PSMB8","PSMB9","PSMG2","PSTPIP1","PTCH1","PTDSS1","PTEN","PTF1A","PTH1R","PTPN2","PTPN22","PTRH2","PUF60","PYCR1","PYCR2","PYROXD1","RAB18","RAB23","RAB3GAP1","RAB3GAP2","RAC1","RAC2","RAD21","RAD51","RAD51C","RAF1","RAPSN","RARB","RARS2","RASGRP1","RBBP8","RBM20","RBM28","RBP3","RDH12","RECQL4","REEP1","REEP6","RELT","RERE","REV3L","RFC1","RFC2","RFT1","RFWD3","RFX7","RGR","RHO","RHOA","RIC1","RIN2","RIPK4","RIPPLY2","RLBP1","RLIM","RMRP","RNASEH2A","RNASEH2B","RNASEH2C","RNF113A","RNF13","RNF2","RNU12","RNU4ATAC","RNU7-1","ROGDI","ROM1","ROR2","RP1","RP1L1","RP2","RP9","RPE65","RPGR","RPGRIP1L","RPL10","RPL3L","RPS20","RPS26","RPS28","RPS6KA3","RREB1","RSPO2","RTL1","RTTN","RUNX2","RYR1","RYR3","SAG","SALL1","SALL4","SAMHD1","SATB1","SATB2","SCAPER","SCARF2","SCN1B","SCN2A","SCN4A","SCN5A","SCUBE3","SCYL2","SDHA","SDHAF1","SDHB","SDHC","SDHD","SEC23B","SEC24C","SEC24D","SEC31A","SELENON","SEMA4A","SEMA5A","SEPSECS","SERPINF1","SERPINH1","SET","SETBP1","SETD2","SF3B4","SGCA","SGCD","SGCG","SGSH","SH2B1","SH3BP2","SH3PXD2B","SHANK3","SHH","SHOC2","SHPK","SIGMAR1","SIK1","SIK3","SIL1","SIN3A","SIX3","SIX6","SKI","SKIC2","SKIC3","SLC10A7","SLC12A1","SLC12A3","SLC12A6","SLC13A5","SLC16A2","SLC18A3","SLC1A2","SLC1A4","SLC24A4","SLC25A1","SLC25A19","SLC25A22","SLC25A24","SLC25A4","SLC25A46","SLC26A2","SLC29A3","SLC2A10","SLC2A2","SLC32A1","SLC35A1","SLC35A2","SLC35A3","SLC35C1","SLC35D1","SLC37A4","SLC39A13","SLC39A14","SLC39A7","SLC39A8","SLC5A5","SLC5A6","SLC5A7","SLC6A5","SLC6A9","SLC7A14","SLC9A6","SLURP1","SLX4","SMAD2","SMAD3","SMAD4","SMARCA2","SMARCA4","SMARCAD1","SMARCB1","SMARCC2","SMARCD1","SMARCD2","SMARCE1","SMC1A","SMC3","SMCHD1","SMG9","SMOC1","SMOC2","SMPD4","SMS","SNAP25","SNIP1","SNRNP200","SNRPB","SNX14","SON","SOX10","SOX11","SOX18","SOX4","SOX6","SOX9","SP6","SP7","SPARC","SPART","SPATA7","SPECC1L","SPEG","SPEN","SPG11","SPI1","SPRED1","SPRTN","SPRY4","SPTBN4","SPTLC1","SRCAP","SRD5A3","SRP19","SRP54","SRPX2","STAC3","STAG2","STAT3","STAT4","STIL","STIM1","STRA6","STX16","STX1A","SUCLG1","SUMO1","SUZ12","SVIL","SYNE1","SYNE2","SYT1","SYT2","TAC3","TACR3","TAF1","TAF1A","TAFAZZIN","TAPT1","TARS1","TASP1","TBC1D20","TBC1D2B","TBCD","TBCE","TBL1XR1","TBL2","TBR1","TBX1","TBX15","TBX2","TBX3","TBX4","TBXT","TCAP","TCF3","TCF4","TCIRG1","TCOF1","TCTN3","TDGF1","TDO2","TELO2","TENT5A","TFAP2A","TFE3","TG","TGDS","TGFA","TGFB1","TGFB2","TGFB3","TGFBI","TGFBR1","TGFBR2","TGIF1","TGM1","THOC6","THRA","THSD4","TLK2","TMCO1","TMEM107","TMEM165","TMEM216","TMEM218","TMEM222","TMEM270","TMEM43","TMEM67","TMEM70","TMEM94","TMPO","TMTC3","TNFRSF11A","TNFRSF11B","TNFRSF1A","TNNC1","TNNC2","TNNI2","TNNI3","TNNT1","TNNT2","TNNT3","TNPO3","TNRC6B","TNXB","TOP3A","TOPORS","TOR1A","TOR1AIP1","TP53","TP53RK","TP63","TPM1","TPM2","TPM3","TPO","TPRKB","TRAF3IP2","TRAF7","TRAIP","TRAK1","TREM2","TREX1","TRIM2","TRIM37","TRIM8","TRIP11","TRIP13","TRIP4","TRMT10A","TRPS1","TRPV3","TRPV4","TRPV6","TRRAP","TSC1","TSC2","TSEN54","TSHB","TSHR","TTC26","TTC7A","TTC8","TTN","TUB","TUBA1A","TUBB","TUBB3","TULP1","TWIST2","TXNL4A","TXNRD2","TYROBP","UBA1","UBE2T","UBE4B","UCHL1","UFC1","UFD1","UNC80","UPF3B","UROD","UROS","USF3","USH1C","USH1G","USH2A","USP48","USP7","USP8","VAMP1","VANGL1","VANGL2","VARS1","VCL","VDR","VEGFC","VEZF1","VIPAS39","VMA21","VPS11","VPS33A","VPS33B","VPS35L","VPS37D","VPS4A","VPS53","VRK1","VWA1","WASHC5","WDR11","WDR19","WDR26","WDR35","WDR4","WDR45B","WDR72","WDR73","WHRN","WIPI2","WLS","WNT10A","WNT10B","WNT3","WNT4","WNT5A","WNT7A","WNT7B","WRN","WT1","XRCC2","XRCC4","XYLT1","YRDC","YWHAE","YY1","ZBTB20","ZBTB24","ZBTB42","ZBTB7A","ZC4H2","ZDHHC9","ZEB1","ZEB2","ZFHX2","ZFP57","ZFPM2","ZIC2","ZIC3","ZMPSTE24","ZNF335","ZNF407","ZNF408","ZNF469","ZNF513","ZNF699","ZNHIT3","ZPR1","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PREDOMINANTLY_LOWER_LIMB_LYMPHEDEMA":{"collection":"C5:HPO","systematicName":"M36340","pmid":"","exactSource":"HP:0003550","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003550","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PREDOMINANTLY_LOWER_LIMB_LYMPHEDEMA","geneSymbols":["ANGPT2","CELSR1","DNMT1","EPHB4","FLT4","FOXC2","GJC2","PIEZO1","SOX18"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DIFFICULTY_CLIMBING_STAIRS":{"collection":"C5:HPO","systematicName":"M36341","pmid":"","exactSource":"HP:0003551","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003551","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DIFFICULTY_CLIMBING_STAIRS","geneSymbols":["ACTA1","ADSS1","ALG14","ALG2","ANO5","BIN1","CAPN3","DAG1","DMD","DNA2","DNAJB6","DPAGT1","DYSF","FKRP","FLNC","GAA","GFPT1","GMPPB","HADHA","HADHB","KBTBD13","LAMA2","LIPE","LRIF1","MEGF10","MFN2","MIEF2","MT-TE","MYH7","MYOT","MYPN","PLEC","PLEKHG5","POLG","POLG2","POMGNT1","POMK","POMT1","POMT2","PYROXD1","RNASEH1","RRM2B","RYR1","RYR3","SGCA","SGCD","SGCG","SLC25A4","SPEG","TCAP","TFG","TNNT1","TNPO3","TOR1AIP1","TPM2","TPM3","TTN","TWNK","VAPB","VCP","VMA21","WDR62"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MUSCLE_STIFFNESS":{"collection":"C5:HPO","systematicName":"M36342","pmid":"","exactSource":"HP:0003552","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003552","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MUSCLE_STIFFNESS","geneSymbols":["ABCD1","ACADVL","ACTA1","ADAR","ANO10","ANO5","AOPEP","ARX","ATAD1","ATP13A2","ATP2A1","CACNA1S","CAV3","CAVIN1","CLCN1","CPT2","CRYAB","DARS2","DHCR24","DNAJC6","DYSF","FGFR1","GABRA3","GALC","GLRA1","GLRB","GPHN","HINT1","HSPG2","IFIH1","INPP5K","KAT6A","KBTBD13","KCNA1","KCNJ18","KIF11","KIF1A","KIF5A","KLHL41","KPNA3","KRAS","LDB3","LDHA","LSM11","MAPT","MLIP","MT-ATP6","MYO5A","MYOT","MYPN","NEB","PANK2","PFKM","PHKA1","PI4KA","PODXL","POLG","PRKAR1B","PSAP","PYGM","REEP2","RNASEH2A","RNASEH2B","RNASEH2C","RNU4ATAC","RNU7-1","RYR1","SAMHD1","SCN4A","SIL1","SLC16A1","SLC2A1","SLC6A5","SPAST","SPG7","STIM1","SYNJ1","TK2","TNFRSF1A","TPM2","TPM3","TREX1","VAMP1","ZFYVE26"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_TYPE_2_MUSCLE_FIBER_ATROPHY":{"collection":"C5:HPO","systematicName":"M36343","pmid":"","exactSource":"HP:0003554","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003554","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TYPE_2_MUSCLE_FIBER_ATROPHY","geneSymbols":["ALG14","CASQ1","CHAT","CHRNA1","CHRNE","CNBP","COLQ","GFPT1","LAMB2","LPIN1","MT-CO1","MT-CO3","OBSCN","ORAI1","PNPT1","SARS2","SPTBN4","STIM1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MUSCLE_FIBER_SPLITTING":{"collection":"C5:HPO","systematicName":"M36344","pmid":"","exactSource":"HP:0003555","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003555","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MUSCLE_FIBER_SPLITTING","geneSymbols":["ACTA1","ADSS1","ALDOA","ANO5","CAPN3","CHRNB1","CRYAB","DNAJB6","DYSF","FLNC","LDB3","MAP3K20","NEB","NEFH","PLEC","PLIN4","SGCG","TNXB","TRPV4","TTN"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_VIRAL_INFECTION_INDUCED_RHABDOMYOLYSIS":{"collection":"C5:HPO","systematicName":"M41287","pmid":"","exactSource":"HP:0003558","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003558","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VIRAL_INFECTION_INDUCED_RHABDOMYOLYSIS","geneSymbols":["ALDOA","DGUOK","LPIN1","MT-CO1","MT-CO3","OBSCN","SEPSECS","TSEN15","TSEN2","TSEN34","TSEN54"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MUSCULAR_DYSTROPHY":{"collection":"C5:HPO","systematicName":"M36345","pmid":"","exactSource":"HP:0003560","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003560","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MUSCULAR_DYSTROPHY","geneSymbols":["ACTA1","AHCY","ANO5","B3GALNT2","B4GAT1","BAG3","BUB1","BUB1B","BUB3","BVES","CAPN3","CAV3","CAVIN1","CEP57","CHKB","COL12A1","COL4A1","COL6A1","COL6A2","COL6A3","CRPPA","CRYAB","DAG1","DMD","DNAJB6","DPM1","DPM3","DYSF","EMD","FHL1","FKRP","FKTN","FRG1","GK","GMPPB","HNRNPA1","HNRNPDL","INPP5K","ITGA7","ITGB4","JAG2","LAMA2","LARGE1","LIMS2","LIPE","LMNA","MYH7","NPPA","NR0B1","PIEZO2","PLEC","PLIN4","PNKP","POGLUT1","POMGNT1","POMGNT2","POMK","POMT1","POMT2","RXYLT1","RYR1","SCN5A","SELENON","SGCA","SGCB","SGCD","SGCG","SIL1","SMCHD1","SYNE1","SYNE2","TCAP","TMEM43","TNPO3","TOR1AIP1","TRAPPC11","TRIM32","TRIP13","TRIP4","TTN"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BIRTH_LENGTH_LESS_THAN_3RD_PERCENTILE":{"collection":"C5:HPO","systematicName":"M36346","pmid":"","exactSource":"HP:0003561","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003561","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BIRTH_LENGTH_LESS_THAN_3RD_PERCENTILE","geneSymbols":["B3GLCT","CDC6","CDT1","DYRK1A","EIF2S3","FIG4","HMGA2","ORC1","ORC4","ORC6","PIK3R1","PLAG1","SMAD4","SMPD4","TBCE"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DECREASED_LDL_CHOLESTEROL_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M36347","pmid":"","exactSource":"HP:0003563","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003563","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_LDL_CHOLESTEROL_CONCENTRATION","geneSymbols":["ALG6","ANGPTL3","APOA5","APOB","APOC3","B4GALT1","FDFT1","GPIHBP1","LDLRAP1","MSMO1","MTTP","NGLY1","PANK2","SAR1B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LOW_PLASMA_CITRULLINE":{"collection":"C5:HPO","systematicName":"M36349","pmid":"","exactSource":"HP:0003572","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003572","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOW_PLASMA_CITRULLINE","geneSymbols":["ALDH18A1","ATP5F1A","CA5A","CPS1","MRM2","MT-ATP6","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND5","MT-ND6","MT-TK","MT-TL1","MT-TV","MT-TW","OTC","PCK1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INCREASED_TOTAL_BILIRUBIN":{"collection":"C5:HPO","systematicName":"M36350","pmid":"","exactSource":"HP:0003573","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003573","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_TOTAL_BILIRUBIN","geneSymbols":["CPT2","DCDC2","KCNN4","LIPT1","LRP5","MYO5B","PFKM","PIEZO1","POLG2","PRF1","PRKCSH","SEC63","SLC4A1","TMEM67"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CONGENITAL_ONSET":{"collection":"C5:HPO","systematicName":"M36351","pmid":"","exactSource":"HP:0003577","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003577","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONGENITAL_ONSET","geneSymbols":["AARS1","AARS2","ABCA12","ABCA3","ABCB6","ABCC9","ABCD4","ABL1","ACAD9","ACKR3","ACP5","ACTA1","ACTA2","ACTB","ACTG2","ACVR1","ACVR2B","ADAMTS19","ADAMTS2","ADAMTS3","ADCY6","ADGRG1","ADNP","ADSL","AFF4","AGK","AGPAT2","AGR2","AGTPBP1","AHDC1","AKT2","ALAD","ALDH18A1","ALDH1A3","ALDH3A2","ALG3","ALG8","ALG9","ALOX12B","ALOXE3","ALPK3","ALX4","AMH","AMHR2","AMPD2","ANKH","ANKLE2","ANKS6","ANO1","ANOS1","AP1B1","AP1S1","AP3B1","AP3B2","AP4B1","AP4E1","AP4M1","AR","ARCN1","ARHGEF2","ARHGEF9","ARL2","ARL6","ARMC9","ARX","ASCC1","ASH1L","ASNS","ASPM","ASXL1","ASXL2","ATAD1","ATCAY","ATIC","ATN1","ATOH1","ATOH7","ATP11C","ATP1A3","ATP2A2","ATP2B1","ATP2B2","ATP2B3","ATP5F1A","ATP6V0A2","ATP6V1B2","ATP6V1E1","ATP8A2","ATP9A","ATPAF2","ATR","AVPR2","B3GALNT2","B4GALT1","BAP1","BBS1","BBS12","BBS4","BBS9","BCAP31","BCL11A","BCL11B","BCS1L","BHLHA9","BICD2","BIN1","BLM","BLOC1S3","BLTP1","BMP1","BMPR1B","BPNT2","BRAF","BRF1","BRPF1","BRWD3","BSCL2","BSND","BUB1","C18orf32","C1QBP","C2CD3","C2orf69","CA8","CABP2","CACNA1A","CACNA1D","CALM3","CAMK2B","CAPN15","CASK","CATSPER2","CAV1","CBFB","CC2D2A","CCDC103","CCDC28B","CCDC32","CCDC39","CCDC88A","CCND2","CCNQ","CD320","CD8A","CDAN1","CDC14A","CDC40","CDC42BPB","CDC45","CDC6","CDCA7","CDH11","CDH3","CDK10","CDK13","CDK5","CDK5RAP2","CDK6","CDT1","CENPF","CENPJ","CEP120","CEP135","CEP152","CEP63","CERS3","CFAP410","CFAP45","CFAP53","CFC1","CFL2","CHAMP1","CHAT","CHD7","CHMP1A","CHRNA1","CHRNB1","CHRNE","CHST14","CHST3","CHUK","CIB2","CIROP","CIT","CITED2","CLCN7","CLCNKA","CLCNKB","CLDN10","CLMP","CLPB","CLRN1","CNOT1","CNTNAP1","COA5","COA6","COCH","COG1","COG4","COG6","COG7","COL11A1","COL11A2","COL13A1","COL17A1","COL18A1","COL1A1","COL1A2","COL25A1","COL2A1","COL3A1","COL4A1","COL4A6","COL7A1","COLEC11","COLQ","COPB2","COQ4","COQ7","COX5A","COX6A2","COX7B","CPLANE1","CREB3L1","CREBBP","CRELD1","CRIPT","CRYAB","CRYBA1","CRYBA2","CRYBB1","CRYBB3","CRYGB","CSF1R","CSPP1","CST6","CTCF","CTSD","CTU2","CWF19L1","CYB5A","CYP19A1","CYP2U1","CYP4F22","DBH","DCC","DCDC2","DCHS1","DCPS","DCT","DDX11","DDX59","DHCR7","DHH","DICER1","DLL4","DLX5","DMXL2","DNA2","DNAAF3","DNAH9","DNASE2","DNM2","DNMBP","DNMT3A","DOCK6","DOHH","DOLK","DONSON","DPAGT1","DPH1","DPH5","DPM2","DPP6","DPYD","DSE","DSG1","DSG4","DSP","DSTYK","DTNA","DTYMK","DVL1","DYNLT2B","DYRK1A","EBP","ECE1","ECEL1","ECHS1","ECM1","EDN1","EDN3","EDNRA","EDNRB","EED","EEF1A2","EFEMP2","EGFR","EGR2","EIF3F","EIF4A3","EIF5A","ELN","ELOVL4","ELP1","ELP2","ELP4","EML1","EN1","ENPP1","EOGT","EP300","EPG5","EPHB4","EPS8","EPS8L3","ERCC1","ERCC2","ERCC3","ERCC4","ERCC6","ERGIC1","ESCO2","ESRRB","EXOC2","EXOC6B","EXOC7","EXOSC3","EXOSC9","EXT2","EXTL3","F13A1","F13B","F2","FAM111A","FAM111B","FAM20C","FANCF","FANCL","FAT4","FBLN5","FBN2","FGA","FGB","FGF10","FGF16","FGF3","FGFR1","FGFR2","FGFR3","FGG","FIBP","FIG4","FKRP","FKTN","FLG2","FLNA","FLNB","FLT4","FLVCR2","FOCAD","FOXC1","FOXE1","FOXE3","FOXI1","FOXRED1","FREM1","FREM2","FTO","FUT8","FYCO1","FZD2","FZD6","G6PD","GATA1","GATA3","GATA4","GATA5","GATA6","GDAP1","GDF11","GDF3","GDF5","GDNF","GEMIN5","GFM1","GFM2","GFRA1","GGPS1","GJA1","GJA8","GJB2","GJB4","GLDN","GLE1","GLI1","GLI3","GLRB","GLS","GMPPA","GMPPB","GNPAT","GORAB","GOSR2","GP1BA","GP1BB","GP9","GPRASP2","GREB1L","GRHL3","GRIN1","GSC","GSX2","GTF2H5","GTPBP3","GUCY2C","GUF1","H1-4","H4C11","H4C3","HAAO","HBA1","HBG2","HCCS","HCN4","HDAC4","HECTD4","HELLS","HEPACAM","HERC1","HERC2","HES7","HIVEP2","HK1","HMGB3","HNRNPH1","HNRNPR","HOXA2","HOXB1","HOXD13","HPDL","HPGD","HRAS","HRURF","HS2ST1","HSD3B2","HSPG2","HYCC1","IARS2","IBA57","IER3IP1","IFIH1","IFT122","IFT140","IFT172","IFT27","IFT52","IFT74","IGBP1","IGF1","IGF1R","IGF2","IGHMBP2","IKBKG","INPP5K","INPPL1","IPO8","IQCE","IRF6","IRX5","ITGA3","ITGA6","ITGA7","ITGA8","ITGB4","ITPR1","JAG1","JAM3","JUP","KANK1","KARS1","KAT5","KAT6A","KATNB1","KATNIP","KCNA4","KCNE1","KCNJ10","KCNJ6","KCNK4","KCNN4","KCNQ1","KDM6A","KDSR","KIAA0586","KIAA0753","KIAA0825","KIF15","KIF1A","KIF26A","KIF5A","KIF7","KIFBP","KITLG","KLF1","KLHL24","KMT2D","KNL1","KRAS","KRT1","KRT10","KRT14","KRT5","KRT71","KRT74","KY","KYNU","LAMA2","LAMA3","LAMA5","LAMB2","LAMB3","LAMC2","LARGE1","LARS2","LBR","LEMD3","LFNG","LIFR","LIPH","LMBR1","LMNA","LMNB2","LMOD2","LMOD3","LPAR6","LRP2","LRP4","LRP5","LRPPRC","LRRC56","LRTOMT","LSM11","LSS","LTBP1","LTBP4","LZTFL1","MAB21L1","MAB21L2","MAF","MAGEL2","MAMLD1","MAP3K20","MAP3K7","MAPKAPK5","MAPRE2","MARK3","MARS2","MARVELD2","MATN3","MBTPS2","MC2R","MCM3AP","MCPH1","MDFIC","MECP2","MED11","MED23","MED25","MEGF10","MEGF8","MEIS2","MET","MFSD2A","MICOS13","MID1","MINAR2","MIP","MITF","MKKS","MKRN3","MKS1","MMP1","MNX1","MOGS","MPC1","MPDZ","MPZ","MRPS16","MRPS22","MSRB3","MTMR14","MTO1","MUSK","MYBPC1","MYCN","MYF5","MYH2","MYH3","MYH9","MYL1","MYL11","MYO15A","MYO6","MYO7A","MYO9A","MYSM1","NAA10","NALCN","NARS1","NBN","NCAPD2","NCAPG2","NCAPH","NDE1","NDUFA4","NDUFA6","NDUFAF4","NDUFB11","NECAP1","NECTIN1","NECTIN4","NEDD4L","NEK8","NEK9","NF1","NIN","NIPAL4","NKX2-1","NKX2-5","NKX3-2","NODAL","NOG","NOTCH1","NOTCH3","NPAP1","NPHP1","NPHP3","NPHS1","NPR2","NR1H4","NR2F2","NRAS","NRCAM","NRIP1","NSDHL","NUAK2","NUDT2","NUP155","NUP37","NUP88","NUS1","NXN","OCRL","ODAD3","OFD1","OGDHL","OPN1MW","ORAI1","ORC1","ORC4","ORC6","OSGEP","OTOF","OTOG","OTOGL","OTUD5","PAFAH1B1","PAM16","PAX2","PAX6","PAX8","PC","PCDH15","PCDHGC4","PCLO","PDCD6IP","PDE4D","PDE6D","PDGFRB","PDHX","PDX1","PEX10","PEX12","PEX14","PEX19","PEX2","PEX26","PEX3","PEX5","PGAP2","PHGDH","PHOX2A","PHOX2B","PI4KB","PIEZO2","PIGF","PIGN","PIGO","PIGT","PIGY","PIK3CA","PITX1","PITX3","PKD1L1","PKHD1","PKLR","PKP1","PLAA","PLCD1","PLD1","PLEC","PLK4","PLXND1","PMM2","PNPLA1","POGZ","POLA1","POLE","POLR1A","POLR1C","POLR1D","POLR3A","POLR3B","POMGNT1","POMGNT2","POMK","POMP","POMT1","POMT2","POP1","PORCN","PPFIBP1","PPP1CB","PPP2R3C","PPP3CA","PRDM13","PREPL","PRKACA","PRKACB","PRKAG2","PRKAR1B","PRKD1","PRMT7","PRPS1","PRR12","PRUNE1","PSAP","PSAT1","PSMC3","PSMD12","PTCH1","PTRH2","PUF60","PWAR1","PWRN1","PXDN","PYCR1","PYROXD1","QRICH1","RAB18","RAB3GAP1","RAB3GAP2","RAD51","RAD51C","RALA","RAPSN","RARB","RARS2","RBBP8","RBM10","RBM8A","RBPJ","RECQL4","REEP1","RFWD3","RFX6","RHOA","RIPK4","RIPOR2","RMND1","RMRP","RNF113A","RNF13","RNU12","RNU4ATAC","ROBO1","ROBO3","ROR2","RPA1","RPGRIP1L","RPL10","RPL15","RPL27","RPS10","RPS19","RPS26","RPS28","RRM2B","RRP7A","RSPH3","RSPO2","RUNX2","RUSC2","RXYLT1","RYR1","SALL1","SALL4","SAMHD1","SASS6","SATB2","SCARF2","SCN11A","SCN4A","SCN5A","SCN8A","SCN9A","SCNM1","SDHB","SDR9C7","SEC23A","SELENBP1","SELENON","SERPINB7","SERPINE1","SF3B2","SF3B4","SFXN4","SHMT2","SIAH1","SIK3","SIN3A","SIX3","SIX6","SLC12A2","SLC16A2","SLC25A12","SLC25A19","SLC25A24","SLC25A4","SLC26A2","SLC26A4","SLC2A10","SLC35A3","SLC37A4","SLC39A8","SLC5A7","SLC6A6","SLC6A9","SLITRK6","SMAD2","SMAD6","SMARCAL1","SMARCC1","SMARCD2","SMC1A","SMG9","SMO","SMOC1","SNORD115-1","SNORD116-1","SNRPB","SOX10","SOX18","SOX2","SOX9","SPATA5","SPATA5L1","SPECC1L","SPI1","SPINK5","SPRED2","SPTBN4","SRD5A3","SREBF1","SSR4","ST14","STAC3","STAG1","STAG2","STAMBP","STIL","STRA6","STRC","STS","SUFU","SULT2B1","SUMO1","SVIL","SYNE4","SYT2","TAB2","TAF1","TARS2","TASP1","TBC1D20","TBC1D23","TBC1D24","TBC1D8B","TBCD","TBCE","TBCK","TBX2","TBX3","TBX6","TCF12","TCOF1","TCTN2","TCTN3","TELO2","TENM3","TFAP2B","TGDS","TGM1","THOC6","TKT","TLK2","TLL1","TMC1","TMCO1","TMEM106B","TMEM107","TMEM216","TMEM231","TMEM67","TMEM70","TMEM94","TMEM98","TMPRSS3","TNNC2","TNNT1","TNNT3","TOE1","TP53RK","TP63","TPM1","TPM2","TPM3","TRAF7","TRAPPC12","TRAPPC14","TRIM32","TRIM36","TRIM44","TRIP4","TRMT10A","TRPM3","TRPV4","TRPV6","TSEN15","TSEN2","TSEN54","TSHR","TSPEAR","TSR2","TTC26","TTC5","TTC7A","TTC8","TUBA1A","TUBB","TUBB1","TUBB3","TUBB4B","TUBGCP4","TUBGCP6","TULP1","TWIST1","TWIST2","TXN2","TXNDC15","TXNL4A","TYMS","TYR","UBA2","UBA5","UBE2T","UBE3B","UBR7","UGT1A1","UNC45B","UROS","USP48","VANGL1","VARS1","VAX1","VIM","VLDLR","VPS33B","VPS35L","VRK1","VSX1","VSX2","WARS1","WAS","WDPCP","WDR19","WDR35","WDR4","WDR62","WDR81","WHRN","WLS","WNT10A","WNT5A","WT1","XRCC2","XYLT2","YAP1","YIF1B","YRDC","YY1","ZBTB20","ZBTB24","ZBTB7A","ZC4H2","ZFPM2","ZFYVE19","ZIC1","ZIC3","ZMPSTE24","ZNF141","ZNF148","ZNF335","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ADULT_ONSET":{"collection":"C5:HPO","systematicName":"M36352","pmid":"","exactSource":"HP:0003581","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003581","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ADULT_ONSET","geneSymbols":["AAAS","AAGAB","AARS1","AARS2","ABCA4","ABCA7","ABCB4","ABCC1","ABCC8","ABCC9","ABCG8","ABHD12","ACD","ACTA1","ACTC1","ACTG1","ACTN2","ACVR1B","ADGRG2","ADH1C","AFG3L2","AGBL1","AIP","AK7","AKAP3","AKT1","AKT2","ALDH18A1","ALDH5A1","ALG10B","ALG5","ALOX5AP","AMACR","ANKH","ANLN","ANO10","ANO3","ANO5","ANXA11","ANXA5","AOPEP","AP5Z1","APC","APOA1","APOE","APP","APPL1","APTX","AR","ARHGEF10","ARHGEF18","ARL2BP","ARMC5","ASTL","ATL1","ATL3","ATN1","ATP11A","ATP13A2","ATP1A1","ATP1A2","ATP1A3","ATP2B2","ATP5MC3","ATP6AP2","ATP6V0A1","ATP7B","ATXN1","ATXN10","ATXN2","ATXN3","ATXN8OS","AUH","AURKC","B2M","B4GALNT1","BAG3","BAG5","BAP1","BBS2","BCL10","BEAN1","BLK","BLVRA","BMP6","BMPR2","BPGM","BPY2","BRCA1","BRCA2","BRDT","BSCL2","BTNL2","BVES","C14orf39","C19orf12","C1QBP","C1QTNF5","C2CD6","C3","C9","C9orf72","CACNA1A","CACNA1C","CACNA1I","CACNB4","CADM3","CAPN3","CARD9","CASK","CASQ2","CASR","CATIP","CATSPER1","CATSPER2","CAV1","CAV3","CBFB","CC2D2A","CCDC34","CCDC39","CCDC62","CCDC88C","CCND1","CCNF","CD164","CDC20","CDH1","CDH2","CDH23","CDY1","CDY2A","CEBPE","CEL","CEP78","CFAP251","CFAP43","CFAP44","CFAP58","CFH","CFHR1","CFHR3","CFI","CHCHD10","CHCHD2","CHMP2B","CHRNA1","CHRNA2","CIB1","CLCN1","CLCN2","CLEC3B","CLN6","CNBP","CNNM2","COCH","COL2A1","COL4A1","COL4A3","COL6A3","COQ2","COQ8B","CORIN","CP","CPOX","CPT1C","CPT2","CRYAB","CRYBA2","CSF1R","CSRP3","CT55","CTNNA1","CTNS","CTSF","CYLD","CYP11B1","CYP27A1","CYP7B1","DAB1","DAZ1","DAZ2","DAZ3","DCTN1","DDX3Y","DDX41","DES","DGKE","DGUOK","DHTKD1","DIABLO","DIAPH2","DIAPH3","DLST","DMD","DNA2","DNAH1","DNAH17","DNAH8","DNAJB11","DNAJB2","DNAJB4","DNAJB6","DNAJC3","DNAJC30","DNAJC5","DNALI1","DNHD1","DNM1L","DNMT1","DNMT3B","DPM3","DPY19L2","DRAM2","DRC1","DRD5","DSC2","DSG2","DSP","DTNA","DYRK1B","DYSF","EEF2","EIF2AK2","EIF2AK4","EIF2B3","EIF4G1","ELMOD3","ELOVL4","ELOVL5","ENG","ENO3","ENPP1","EPAS1","EPCAM","EPHA10","ERBB4","ERCC6","ERCC6L2","ESR2","F2","F5","F8","FANCM","FARS2","FAT2","FBLN5","FBN1","FBXO43","FDPS","FGF14","FHL1","FHOD3","FIG4","FKBP6","FKTN","FLNC","FMR1","FN1","FOXC1","FOXE3","FSHB","FSIP2","FTH1","FTL","FZD4","G6PD","GAA","GABRA3","GALC","GANAB","GARS1","GATA2","GATAD1","GBA1","GBE1","GBF1","GCGR","GCK","GCM2","GCNA","GDAP2","GDF9","GFAP","GGCX","GGN","GIPC1","GJA5","GJC2","GK","GLUD2","GNA11","GNAI2","GNAL","GNAS","GNB3","GNB4","GNE","GPD2","GPIHBP1","GRN","GSN","GYG1","H6PD","HAMP","HAVCR2","HCN4","HFM1","HGD","HGSNAT","HINT1","HJV","HK1","HKDC1","HLA-DQB1","HLA-DRB1","HMCN1","HMGA1","HNF1A","HNF1B","HNF4A","HNRNPA1","HNRNPDL","HPRT1","HRG","HSFY1","HSPB1","HSPB3","HSPB8","HTRA1","ICOS","IDS","IFIH1","IFT140","IFT74","IGF2BP2","IKZF1","IL36RN","IL6","IMPG1","IMPG2","INF2","INS","INSR","IQCN","IRS1","IRS2","ITM2B","ITPR1","ITPR3","JAG2","JAK2","JPH2","JPH3","JUP","KCNA5","KCNC3","KCND3","KCNE1","KCNE2","KCNH2","KCNJ11","KCNJ18","KCNJ2","KCNJ5","KCNK3","KCNQ1","KCNU1","KCTD17","KDM5D","KIF1B","KIF5A","KLHL24","KLHL3","KLHL7","KLKB1","KNG1","KPNA7","KRAS","KRT18","LAMA2","LAMA4","LBR","LCAT","LDB3","LGI1","LHB","LIG3","LIG4","LIPC","LIPE","LITAF","LMF1","LMNA","LMNB1","LMX1B","LOX","LRIF1","LRP12","LRP5","LRP6","LRRK2","LYST","LZTR1","M1AP","MAFA","MAFB","MAGT1","MAK","MAP1B","MAPK8IP1","MAPKAPK3","MAPKBP1","MAPT","MARCHF6","MARS1","MARS2","MATR3","MB","MBD4","MCCC1","MCM6","MED25","MEF2A","MEFV","MEI1","MEIOB","MEN1","MFAP5","MFRP","MFSD8","MGME1","MICAL1","MLH1","MME","MN1","MOCOS","MOG","MORC2","MOS","MOV10L1","MPEG1","MPO","MPZ","MSH2","MSH3","MSH4","MSH5","MSH6","MT-TT","MTNR1B","MTOR","MUC1","MYBPC3","MYH6","MYH7","MYL2","MYL4","MYORG","MYOT","MYPN","NAF1","NAGA","NAGLU","NEFH","NEFL","NEK1","NEUROD1","NEXN","NF1","NF2","NFKB1","NLRP2","NLRP3","NLRP5","NLRP7","NOL3","NOS3","NOTCH2NLC","NOTCH3","NPC1","NPHP1","NPPA","NPTX1","NR0B1","NR2E3","NR3C1","NR4A2","NRCAM","NRIP1","NRL","NT5C2","NTHL1","NUTM2B-AS1","OBSCN","OPTN","OSMR","OTC","OXGR1","P2RX2","PABPN1","PARK7","PARN","PATL2","PAX2","PAX4","PDCD1","PDE11A","PDE1C","PDE8B","PDGFB","PDGFRB","PDHA2","PDK3","PDX1","PDYN","PHKA1","PIGA","PIGT","PIK3CA","PIK3R5","PKD2","PKHD1","PKP2","PLA2G6","PLAU","PLCZ1","PLD3","PLEKHG5","PLG","PLIN1","PLIN4","PLN","PMP2","PMP22","PMVK","PNKP","PNLDC1","PNPLA2","POF1B","POGLUT1","POLD1","POLE","POLG","POLG2","POLRMT","POT1","PPARG","PPOX","PPP1R3A","PPP2R3C","PRDM16","PRDX3","PRKAG2","PRKAR1A","PRKCH","PRKCSH","PRKG1","PRKN","PRKRA","PRLR","PRNP","PRPF4","PRPF6","PRPF8","PRPH","PRPH2","PRRT2","PRY","PRY2","PSAP","PSEN1","PSEN2","PTEN","PTF1A","PTPN1","PUM1","PYGM","QRICH2","RAB39B","RAF1","RAPGEF2","RAX2","RBM12","RBM20","RBMY1A1","RBP3","RCBTB1","REC114","REEP1","REEP6","RELN","RETN","RFC1","RIGI","RILPL1","RIPOR2","RNASEH1","RNASEL","RNF170","RNF216","RP1","RP2","RPA1","RPGR","RPL10L","RPS14","RPS19","RPS4Y2","RRAGD","RRM2B","RTEL1","RYR2","SAMD12","SAMD9L","SASH3","SCARB2","SCN10A","SCN1A","SCN1B","SCN2B","SCN3B","SCN4A","SCN4B","SCN5A","SCNN1G","SDHA","SDHAF2","SDHB","SDHC","SDHD","SEC23B","SEC61A1","SEC63","SELENBP1","SEMA3A","SEPTIN12","SERPINA1","SERPINA6","SERPING1","SERPINH1","SETX","SFRP4","SFTPA1","SGCD","SGO1","SH3BP2","SH3TC2","SHANK3","SHOC1","SLC12A5","SLC17A9","SLC19A2","SLC19A3","SLC20A2","SLC22A12","SLC25A13","SLC25A4","SLC26A1","SLC26A8","SLC2A10","SLC2A2","SLC30A8","SLC34A2","SLC37A4","SLC39A14","SLC44A4","SLC4A1","SLC4A11","SLC4A2","SLC4A3","SLC4A4","SLC7A6OS","SLCO2A1","SMAD2","SMAD4","SMARCB1","SMARCE1","SMCHD1","SMN1","SMN2","SMPD1","SMPX","SNCA","SNCAIP","SNORD118","SNTA1","SOCS1","SOD1","SOHLH1","SOST","SPAG17","SPG11","SPG7","SPINK2","SPRY2","SPTLC1","SPTLC2","SSBP1","SSX1","STAG3","STARD7","STAT1","STIM1","STK11","STOX1","STRC","STT3A","STUB1","SUFU","SUN5","SYCE1","SYCP2","SYCP3","SYNE1","SYNJ1","TAF1","TAF4B","TARDBP","TBC1D24","TBC1D8B","TBK1","TBP","TBX18","TBX3","TCAP","TCF4","TCF7L2","TDRD9","TECRL","TERB1","TERB2","TERC","TERT","TEX11","TEX14","TEX15","TFG","TGFBI","TGFBR1","TGM6","THAP1","THBD","THOC1","THSD1","THSD4","TIA1","TIE1","TIMP3","TINF2","TK2","TLCD3B","TLR7","TLR8","TMEM126B","TMEM240","TMEM43","TNC","TNFAIP3","TNFRSF13C","TNNC1","TNNI3","TNNT1","TNNT2","TNPO3","TNRC6A","TOP3A","TOR1A","TOR1AIP1","TP53","TP63","TPM1","TPP1","TRDN","TREX1","TRIM32","TRMT5","TRPC3","TRPC6","TRPM3","TRPM7","TRPV4","TSC1","TSC2","TSGA10","TTBK2","TTC19","TTC21A","TTLL5","TTN","TTR","TUBA4A","TUBB4A","TULP3","TWNK","TYROBP","UBA1","UBQLN2","UCHL1","UNC119","UNC13D","UQCRC1","USP26","USP48","USP9Y","VAMP1","VAPB","VCL","VCP","VCY","VEZF1","VHL","VPS11","VPS13D","VPS16","VPS35","VSX1","WASHC5","WDR19","WEE2","WFS1","WNT4","XK","XKRY","XPR1","XRCC1","XRCC2","YARS1","YEATS2","ZEB1","ZFP36L2","ZMYND15","ZNF408","ZNF687","ZP1","ZP3","ZPBP","ZSWIM7"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LATE_ONSET":{"collection":"C5:HPO","systematicName":"M36353","pmid":"","exactSource":"HP:0003584","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003584","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LATE_ONSET","geneSymbols":["AAGAB","ABCA7","ABCC8","ACTC1","ADH1C","AKT2","ANLN","ANXA11","APOE","APP","ATN1","ATXN2","ATXN8OS","BAG3","BAP1","BBS2","BEAN1","BLVRA","BMP6","C1QBP","CAPN3","CAV1","CCNF","CFH","CFHR1","CFHR3","CHCHD10","CHCHD2","CLEC3B","CLN6","CYLD","DGUOK","DSC2","DSG2","EIF4G1","ELOVL4","ENPP1","EPCAM","ERBB4","FBLN5","FLNC","FMR1","GANAB","GBA1","GCK","GLUD2","GPD2","GYG1","HAVCR2","HMCN1","HMGA1","HNF1A","HNF1B","HNF4A","HSPB1","HTRA1","IGF2BP2","IL6","IMPG2","IRS1","IRS2","JAK2","KCND3","KCNE2","KCNJ11","KLKB1","KRT18","LAMA4","LDB3","LIPC","LMX1B","LOX","LRRK2","MAFA","MAPK8IP1","MAPT","MARS1","MME","MT-TT","MTNR1B","MYBPC3","MYH6","MYPN","NAGLU","NEK1","NEUROD1","NEXN","NOL3","NPTX1","NR4A2","NRIP1","OPTN","OXGR1","PABPN1","PAX4","PDGFRB","PDX1","PDYN","PPARG","PPP1R3A","PSEN2","PTPN1","RETN","RPS14","SDHD","SEC23B","SFTPA1","SLC2A2","SLC30A8","SNCA","SNCAIP","TARDBP","TBP","TCF7L2","TGFBI","THSD1","THSD4","TIA1","TMEM43","TNNC1","TOP3A","TPM1","TRPM7","TTBK2","TUBA4A","UBQLN2","UQCRC1","VCL","WFS1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INSIDIOUS_ONSET":{"collection":"C5:HPO","systematicName":"M36354","pmid":"","exactSource":"HP:0003587","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003587","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INSIDIOUS_ONSET","geneSymbols":["ADH1C","ATL1","ATXN2","ATXN8OS","CACNA1A","EIF4G1","GBA1","GLUD2","MAPT","MPZ","MT-TT","NIPA1","NR4A2","OPA1","PMP22","SNCA","SNCAIP","SPAST","TBP","WASHC5"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INFANTILE_ONSET":{"collection":"C5:HPO","systematicName":"M36355","pmid":"","exactSource":"HP:0003593","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003593","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INFANTILE_ONSET","geneSymbols":["AARS1","AARS2","AASS","ABCB11","ABCB4","ABCC6","ABCC9","ABCD3","ABHD16A","ACADS","ACADSB","ACADVL","ACER3","ACO2","ACOX1","ACOX2","ACTA1","ACTL6B","ADA","ADA2","ADAM22","ADAMTS2","ADAR","ADAT3","ADCY3","ADCY5","ADD3","ADGRG1","ADGRV1","ADK","ADNP","ADSL","AEBP1","AFG3L2","AGK","AGO1","AGO2","AGR2","AGTPBP1","AGXT","AHCY","AIFM1","AIMP1","AIMP2","AKT1","AKT2","ALDH18A1","ALDH5A1","ALDH6A1","ALDOA","ALG11","ALG12","ALG13","ALG14","ALG2","ALG8","ALPK3","ALS2","AMBN","AMFR","AMMECR1","AMPD2","AMTN","ANAPC7","ANGPT2","ANK1","ANKS6","ANOS1","ANTXR1","ANTXR2","AP1S2","AP3B2","AP5Z1","APC2","APOB","ARFGEF1","ARFGEF2","ARHGEF9","ARID2","ARPC1B","ARPC4","ARSB","ARV1","ASH1L","ASNS","ASPA","ASS1","ATAD3A","ATG5","ATG7","ATP13A3","ATP1A1","ATP1A2","ATP1A3","ATP2B1","ATP2B3","ATP5F1A","ATP5F1B","ATP6AP1","ATP6AP2","ATP6V0A1","ATP6V0A4","ATP6V1A","ATP6V1B2","ATP7A","ATP8B1","ATP9A","ATR","AUH","AUTS2","AVPR2","B3GALNT2","B3GALT6","B4GALNT1","B9D1","BAAT","BCAP31","BCAS3","BCL10","BCL11B","BCORL1","BCS1L","BICD2","BLM","BLNK","BOLA3","BRAT1","BRF1","BRWD3","BTD","BTK","C12orf57","C2orf69","C3","C4B","CA12","CACNA1A","CACNA1B","CACNA1C","CACNA1G","CACNA1H","CACNA1I","CACNA1S","CACNA2D1","CACNA2D2","CAD","CADM3","CALM1","CAMK2A","CAMK2B","CAMK2G","CAMLG","CAMSAP1","CAMTA1","CARD11","CARD14","CARMIL2","CARS2","CASK","CAST","CAV1","CAVIN1","CBL","CCDC115","CCDC39","CCDC65","CD164","CD19","CD247","CD320","CD3D","CD3E","CD3G","CD40LG","CD55","CD59","CD79A","CD79B","CDKL5","CELF2","CEP104","CERS1","CFAP410","CFI","CFTR","CHAMP1","CHD1","CHD2","CHD3","CHD5","CHD8","CHKA","CHKB","CHMP1A","CHRNA1","CHRND","CHRNE","CIC","CLCN3","CLCN4","CLCN7","CLCNKB","CLDN11","CLDN19","CLMP","CLP1","CLPB","CLPX","CLTC","CNNM2","CNNM4","CNOT3","CNPY3","CNTN1","CNTNAP2","COG2","COG4","COL12A1","COL1A1","COL27A1","COL4A1","COL6A1","COL6A2","COL6A3","COL7A1","COLGALT1","COLQ","COPB1","COPB2","COQ2","COQ6","COQ8A","COQ8B","CORO1A","COX10","COX11","COX15","COX4I2","COX5A","COX6A2","CPLANE1","CPLX1","CPSF3","CPT2","CRB1","CRB2","CRBN","CREBBP","CRLS1","CRX","CRYAB","CSF3R","CSNK2A1","CTBP1","CTC1","CTDP1","CTNNA2","CTNNB1","CTNS","CUL3","CUX1","CUX2","CWF19L1","CXCR4","CYB561","CYBB","CYC1","CYP1B1","CYP24A1","CYP2R1","CYP2U1","D2HGDH","DAG1","DARS1","DBR1","DCC","DCDC2","DCLRE1B","DCLRE1C","DCX","DDB1","DDC","DDHD1","DDOST","DDX3X","DEAF1","DEF6","DGKE","DGUOK","DHPS","DHX30","DIAPH1","DIP2B","DLAT","DLD","DLG4","DNAAF4","DNAAF5","DNAH5","DNM1","DNM2","DOCK2","DOCK3","DOCK7","DOCK8","DOLK","DPAGT1","DPF2","DPH2","DPM1","DPP9","DPYD","DRC1","DSC3","DSPP","DST","DTYMK","DUT","DYNC1H1","DYNC1I2","DYRK1A","DZIP1L","EARS2","EBF3","ECM1","EDA","EDEM3","EEF1A2","EFL1","EGR2","EHHADH","EIF2AK1","EIF2AK2","EIF2AK3","EIF2B5","EIF3F","ELAC2","ELANE","ELF4","ELOVL1","ELP2","ENPP1","EP300","EPCAM","EPG5","EPHB4","EPO","EPRS1","ERBB2","ERCC1","ERCC2","ERCC5","ERCC6","ERCC8","ERF","ERLIN2","ERMARD","ETHE1","EXOC2","EXOC7","EXOSC2","EXOSC5","EXOSC8","EXT2","FANCB","FANCL","FAR1","FARSB","FBP2","FBXL3","FCGR2A","FCGR3A","FCHO1","FERMT3","FGA","FGB","FGF12","FGF13","FGFR1","FGG","FHL1","FIG4","FKBP10","FKTN","FLAD1","FLNA","FLT4","FMN2","FNIP1","FOCAD","FOXC1","FOXP1","FOXP3","FRMD5","FRMD7","FRMPD4","FRRS1L","FTSJ1","FUCA1","FYCO1","FZD4","FZR1","G6PC1","G6PD","GABBR2","GABRA1","GABRB1","GABRB3","GABRG2","GAD1","GALC","GALNS","GAMT","GAN","GARS1","GATA1","GATAD2B","GATM","GBA1","GCDH","GCH1","GDAP1","GEMIN4","GEMIN5","GET4","GFAP","GFI1B","GFPT1","GGCX","GGT1","GH1","GJA1","GJB2","GJB3","GJC2","GLB1","GLRA1","GLS","GLUD1","GM2A","GMPPA","GMPPB","GNAO1","GNAS","GNB1","GNB2","GNB5","GNE","GNPTAB","GNS","GOLGA2","GON7","GOSR2","GP6","GPAA1","GPD1","GPHN","GPR101","GPT2","GRHL2","GRIA1","GRIA3","GRIA4","GRID2","GRIK2","GRIN1","GRIN2B","GRIN2D","GRM1","GTPBP2","GTPBP3","GUCY1A1","GUCY2C","GUCY2D","GUSB","H3-3B","H4C5","H4C9","HADHA","HADHB","HAX1","HCFC1","HCN1","HCN2","HCN4","HCRT","HDAC4","HECTD4","HEPACAM","HERC2","HEXA","HEXB","HGD","HIBCH","HID1","HIKESHI","HIVEP2","HMGCS2","HNF1A","HNMT","HNRNPH2","HNRNPU","HPD","HPDL","HPRT1","HPS5","HSD17B10","HSPG2","HTT","HUWE1","HYDIN","IARS2","IDH3A","IDS","IFIH1","IFITM5","IFNAR1","IFNG","IFT140","IGHM","IGLL1","IKBKB","IKBKG","IL10RB","IL12B","IL17RC","IL21","IL2RB","IL2RG","IL36RN","IL37","IL6R","IL6ST","IL7R","ILDR1","IMPDH1","INPP5E","INPP5K","IQSEC2","IREB2","IRF2BPL","IRF8","ISCA1","ISCA2","ITGA3","ITGA7","ITPA","ITPR1","JAG1","JAG2","JAGN1","JAK3","JPH1","KARS1","KAT6B","KCNA2","KCNB1","KCNC2","KCNH1","KCNJ10","KCNJ11","KCNJ13","KCNMA1","KCNN2","KCNN4","KCNQ2","KCNQ5","KCNT1","KCNT2","KCTD7","KDELR2","KDM4B","KDM5B","KDM6B","KDR","KIDINS220","KIF12","KIF1A","KIF5A","KITLG","KLC2","KLHL7","KLK4","KMT2E","KMT5B","KPNA3","KRT10","KRT14","KRT5","KRT81","KRT83","KRT86","L2HGDH","LAGE3","LARGE1","LCA5","LCK","LEPR","LETM1","LGI3","LIG1","LINGO1","LINS1","LIPA","LIPT1","LMAN2L","LMBRD1","LMBRD2","LMNA","LMNB1","LRIG2","LRP5","LRPPRC","LRRK1","LTBP1","LTV1","LYRM7","LYSET","LYST","MACF1","MAFB","MAGEL2","MAGI2","MALT1","MANBA","MAP2K2","MAPK8IP3","MARS1","MAST1","MAST3","MATN3","MBD5","MBOAT7","MBTPS1","MCCC1","MCCC2","MCEE","MCM5","MCOLN1","MDH2","MECP2","MED12","MED13L","MED17","MED25","MEF2C","MEFV","MEGF10","METTL23","MFF","MFN2","MGAT2","MIA3","MICOS13","MID2","MIPEP","MLC1","MLIP","MMAA","MMACHC","MMADHC","MMP1","MMP13","MMP14","MMP2","MMP9","MPDU1","MPI","MPV17","MPZ","MRPL3","MRPL44","MRPS2","MRPS25","MRPS34","MRPS7","MSX2","MT-TN","MT-TS1","MTFMT","MTHFD1","MTHFS","MTMR14","MTO1","MTOR","MTPAP","MTR","MTRR","MTSS2","MTX2","MUSK","MVK","MYH7","MYMK","MYMX","MYO5A","MYO5B","MYO7A","MYT1L","NAA20","NACC1","NADK2","NAGA","NAPB","NARS1","NARS2","NAXD","NAXE","NBAS","NBEA","NCAPD3","NCDN","NCKAP1L","NDP","NDST1","NDUFA1","NDUFA10","NDUFA12","NDUFA13","NDUFA2","NDUFA6","NDUFA8","NDUFAF1","NDUFAF3","NDUFAF6","NDUFAF8","NDUFB8","NDUFB9","NDUFC2","NDUFS1","NDUFS2","NDUFS4","NDUFV1","NDUFV2","NEB","NEDD4L","NEFL","NEMF","NEUROD2","NEXMIF","NF1","NFE2L2","NFIA","NFKBIA","NFU1","NGF","NGLY1","NKX2-1","NKX6-2","NLRC4","NLRP1","NLRP12","NLRP3","NMNAT1","NOS1AP","NOTCH2NLC","NPHP3","NR0B1","NR1H4","NR4A2","NSD2","NSRP1","NSUN2","NSUN3","NTRK1","NTRK2","NUP62","OAS1","OCLN","OFD1","OGDH","OGDHL","OPA1","OPHN1","OSTM1","OTC","OTULIN","P4HB","P4HTM","PACS2","PAK1","PANK2","PARN","PC","PCDH12","PCDH15","PCDH19","PCDHGC4","PCK1","PCLO","PCNA","PDE10A","PDE2A","PDGFRB","PDHA1","PDZD8","PERP","PET100","PEX1","PEX12","PEX14","PEX16","PEX2","PGAP1","PGAP2","PGAP3","PGM2L1","PHEX","PHIP","PHKA2","PHKB","PHKG2","PHOX2B","PI4KA","PIDD1","PIGA","PIGG","PIGK","PIGL","PIGM","PIGP","PIGS","PIGT","PIGW","PIK3CD","PIK3R1","PINK1","PITRM1","PKHD1","PLCB1","PLCE1","PLCG2","PLEKHG2","PLG","PLP1","PLPBP","PLXND1","PMM2","PMP22","PMPCA","PMPCB","PNKD","PNP","PNPT1","POC1B","POGZ","POLE","POLG","POLG2","POLH","POLR1C","POLR3A","POLR3B","POLR3K","POLRMT","POMC","POMGNT2","POMK","POMT1","POMT2","POU1F1","PPA2","PPCS","PPP2CA","PPP3CA","PRDM12","PRDM13","PRDX1","PRF1","PRKACG","PRKAR1B","PRKDC","PRKG2","PROC","PRRT2","PRX","PSAP","PSMB8","PSMC1","PSMD12","PSMG2","PSPH","PTCHD1","PTEN","PTF1A","PTH","PTPRC","PTPRQ","PTRH2","PTS","PURA","PUS1","PUS3","PUS7","PYROXD1","QARS1","QDPR","RAB11B","RAB27A","RAC1","RAD51","RAG1","RAG2","RANBP2","RARS1","RBCK1","RDX","RECQL","RELB","REPS1","RERE","REST","RETREG1","RFT1","RFX7","RHOBTB2","RIN2","RINT1","RIPK1","RLIM","RMRP","RNASEH2A","RNASET2","RNPC3","RNU12","RNU4ATAC","ROBO3","ROR1","RORB","RORC","RPE65","RPGRIP1L","RPL21","RPL35A","RPL3L","RPS10","RPS19","RPS26","RPS29","RPS6KA3","RPSA","RRAGD","RSPRY1","RSRC1","RUBCN","RUSC2","RYR1","S1PR2","SACS","SAMD9","SAMHD1","SAR1B","SARS1","SARS2","SASH1","SATB2","SCN11A","SCN1A","SCN1B","SCN2A","SCN3A","SCN4A","SCN8A","SCN9A","SCO2","SCYL1","SDHA","SDHAF1","SDHB","SDHD","SEC23B","SELENBP1","SELENON","SEMA7A","SEPSECS","SERPINB7","SERPINB8","SET","SETBP1","SETD1A","SETD5","SGCD","SGPL1","SH3KBP1","SH3TC2","SHQ1","SI","SIL1","SIN3A","SKIC2","SLC11A2","SLC12A5","SLC12A6","SLC16A1","SLC18A2","SLC18A3","SLC1A2","SLC1A3","SLC1A4","SLC25A1","SLC25A12","SLC25A15","SLC25A26","SLC25A36","SLC25A38","SLC25A42","SLC26A3","SLC2A1","SLC2A10","SLC2A2","SLC30A9","SLC31A1","SLC33A1","SLC34A3","SLC35A1","SLC35B2","SLC37A4","SLC38A3","SLC38A8","SLC39A14","SLC39A4","SLC39A7","SLC41A1","SLC46A1","SLC51A","SLC52A3","SLC5A6","SLC5A7","SLC6A17","SLC6A3","SLC6A6","SLC6A8","SLC7A7","SLC9A7","SLF2","SLITRK2","SLITRK6","SLURP1","SMARCA4","SMARCC2","SMG9","SMN1","SMPD1","SNAP29","SNORD118","SNX10","SNX14","SOBP","SOD1","SON","SOST","SOX18","SOX6","SP7","SPARC","SPATA5","SPATA5L1","SPATA7","SPEG","SPR","SPRED2","SPTAN1","SPTBN2","SRCAP","SRD5A3","ST3GAL3","ST3GAL5","STAG1","STAT2","STAT3","STEAP3","STING1","STK4","STS","STT3A","STX11","STX1B","STXBP1","STXBP2","SUCLA2","SUCLG1","SUPT16H","SURF1","SVIL","SYK","SYNE4","SYNGAP1","SYNJ1","SYT1","SZT2","TAF13","TAF2","TAF8","TAFAZZIN","TARS2","TBC1D23","TBC1D24","TBC1D7","TBC1D8B","TBCD","TBCE","TBK1","TBL1X","TBL1XR1","TBR1","TBX19","TBX21","TCEAL1","TCF20","TCF3","TCIRG1","TCN2","TCTN2","TECR","TELO2","TET2","TGFB1","TGFBI","TGM3","TH","THOC6","THUMPD1","TIAM1","TIMM50","TIMMDC1","TJP2","TK2","TLK2","TLR8","TMEM106B","TMEM163","TMEM38B","TMEM63C","TMEM67","TMTC3","TMX2","TNFAIP3","TNFRSF11A","TNFRSF11B","TNFSF11","TNIK","TNNT1","TNNT2","TNPO2","TNR","TOGARAM1","TOM1","TP53","TP53RK","TP63","TPK1","TPO","TPP2","TPR","TRAC","TRAF7","TRAPPC12","TRAPPC2L","TRAPPC6B","TRAPPC9","TRDN","TREX1","TRIM2","TRIM37","TRIO","TRIOBP","TRIP13","TRIT1","TRMT1","TRMU","TRNT1","TRPA1","TRPM6","TRPV3","TRPV4","TSC1","TSC2","TSEN15","TSHB","TSPYL1","TTC26","TTI2","TTN","TUBB2A","TUBB4A","TUBB6","TUBGCP2","TUFM","TULP1","TULP3","TWIST1","TWNK","TXN2","TYMS","UBA5","UBE2A","UBE3C","UBTF","UFC1","UFSP2","UNC13D","UNC45B","UPB1","UQCRB","UQCRQ","USB1","USH1C","USP53","UVSSA","VAMP1","VAMP2","VARS1","VARS2","VDR","VHL","VLDLR","VPS13D","VPS33A","VPS33B","VPS37A","VPS41","VPS45","VPS53","WAC","WARS1","WARS2","WAS","WASHC4","WDR26","WDR4","WDR45B","WDR62","WDR73","WDR81","WLS","WNK1","WWOX","YARS1","YARS2","YIF1B","YIPF5","YME1L1","YRDC","YWHAG","ZAP70","ZBTB18","ZFYVE19","ZIC1","ZMIZ1","ZMPSTE24","ZMYM2","ZMYND10","ZMYND11","ZNF142","ZNF407","ZNF408","ZNF462","ZNF526","ZNF668","ZNFX1","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MIDDLE_AGE_ONSET":{"collection":"C5:HPO","systematicName":"M36356","pmid":"","exactSource":"HP:0003596","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003596","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MIDDLE_AGE_ONSET","geneSymbols":["AARS1","AARS2","ABCC9","ACTC1","ANO10","ANO5","ANXA11","AP5Z1","APC","APOE","APP","APPL1","ATN1","ATP2B2","ATP6AP2","ATXN10","BAG3","BAP1","BBS2","BMP6","BMPR2","BRCA1","BVES","CACNA1I","CADM3","CAPN3","CASK","CAV1","CCDC88C","CCNF","CDH2","CFH","CHCHD10","CHCHD2","CHMP2B","CHRNA1","CLCN2","CLEC3B","CLN6","CNBP","COL4A1","CRYAB","CSF1R","CTNNA1","CYLD","CYP7B1","DAB1","DES","DGUOK","DNAJB4","DNM1L","DNMT1","DRD5","DSC2","DSG2","DYRK1B","EIF2AK4","EIF4G1","ELOVL4","ELOVL5","EPCAM","ERBB4","FARS2","FAT2","FBLN5","FBN1","FDPS","FHL1","FKTN","FLNC","FTL","G6PD","GANAB","GATAD1","GBE1","GBF1","GJA5","GNB4","GYG1","H6PD","HAVCR2","HGSNAT","HKDC1","HLA-DQB1","HNRNPA1","HSPB1","HTRA1","IKZF1","IMPG2","ITM2B","ITPR3","JAK2","JPH3","KCNA5","KCNC3","KCND3","KCNE2","KCNJ18","KCNJ2","KCNK3","KCNQ1","KIF1B","KIF5A","KLHL7","KNG1","LAMA4","LGI1","LITAF","LMNA","LMX1B","LOX","LRIF1","LRP12","MAFA","MAK","MAP1B","MAPT","MARCHF6","MARS1","MARS2","MATR3","MBD4","MFSD8","MICAL1","MLH1","MME","MOCOS","MPZ","MSH2","MSH3","MYH6","MYORG","MYPN","NAF1","NAGLU","NEFL","NEK1","NEXN","NF1","NOL3","NOTCH2NLC","NOTCH3","NPPA","NPTX1","NRL","OPTN","OXGR1","PDE8B","PDGFB","PDGFRB","PDK3","PDYN","PHKA1","PIGT","PKD2","PKHD1","PLEKHG5","PLN","POLG","POLRMT","PRKN","PRNP","PSAP","PSEN1","PSEN2","PUM1","PYGM","RAB39B","RAF1","RAX2","RBM12","REEP1","RELN","RIPOR2","RNASEH1","RPA1","RPGR","RRM2B","SAMD9L","SCN1B","SCN2B","SCN3B","SCN5A","SDHA","SDHD","SEC23B","SFTPA1","SLC37A4","SMPD1","SMPX","SNCA","SNORD118","SOCS1","SPG11","SPTLC2","STT3A","TBK1","TBP","TBX18","TERT","TGFBI","TGM6","THSD1","THSD4","TIA1","TK2","TMEM240","TNNC1","TNNI3","TNNT2","TOR1A","TPM1","TRPM3","TRPM7","TTC19","TTLL5","TTN","TUBA4A","UBA1","UBQLN2","UNC119","UQCRC1","USP48","VAPB","VCL","VCP","VEZF1","VPS16","WASHC5","ZNF408"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ANTIPHOSPHOLIPID_ANTIBODY_POSITIVITY":{"collection":"C5:HPO","systematicName":"M36357","pmid":"","exactSource":"HP:0003613","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003613","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANTIPHOSPHOLIPID_ANTIBODY_POSITIVITY","geneSymbols":["ADA2","CASP10","CTLA4","DEF6","DNASE1","FAS","FASLG","FCGR2A","FCGR2B","IRAK1","PRKCD","PTPN22","RASGRP1","SAT1","SPP1","STAT1","STAT4","STING1","TOM1","TREX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_JUVENILE_ONSET":{"collection":"C5:HPO","systematicName":"M36358","pmid":"","exactSource":"HP:0003621","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003621","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_JUVENILE_ONSET","geneSymbols":["AAAS","AARS1","AARS2","ABCA4","ABCB7","ABHD12","ACO2","ACP5","ACTC1","ACTN2","ADA2","ADAM10","ADCY5","ADNP","ADSS1","AFG3L2","AGBL5","AKAP9","ALDH18A1","ALDH5A1","ALG6","ALPK1","ANK1","ANKS6","ANLN","ANO10","ANO3","ANO5","AOPEP","APRT","APTX","ARHGEF1","ARL3","ASAH1","ASS1","ATL1","ATL3","ATN1","ATP11A","ATP13A2","ATP1A1","ATP1A2","ATP1A3","ATP2B2","ATP2B3","ATP6AP2","ATP6V0A1","ATP7A","ATP7B","ATP8B1","AXL","B2M","BAAT","BAG3","BAG5","BFSP1","BICD2","BIN1","BMP15","BSCL2","BTK","BVES","C19orf12","C1QBP","C1QC","C3","CACNA1A","CACNA1C","CACNA1H","CACNB4","CALM1","CALM2","CAPN3","CARD10","CARD9","CARS2","CASK","CASP10","CASQ2","CASR","CAV1","CAV3","CBFB","CBLIF","CCDC141","CCDC39","CD19","CD4","CD46","CD55","CDH2","CEACAM16","CEBPE","CFAP410","CFH","CFI","CHM","CHP1","CHRNA1","CHRNA2","CHST6","CHST8","CIB1","CIC","CIDEC","CILK1","CLCN1","CLCN2","CLCN7","CLCNKB","CLDN16","CLDN19","CLN3","CLN5","CLN8","CNNM2","CNTN2","COL17A1","COL2A1","COL4A3","COL6A3","COL7A1","COL9A1","COLQ","COQ6","COQ8B","COX20","CPA6","CRB2","CRYGS","CSF1R","CSTB","CTNNA1","CTNNA3","CTNNB1","CTNS","CYBA","CYBB","CYP11B1","CYP2U1","CYP7B1","DAAM2","DAB1","DBR1","DCLRE1B","DDB1","DDHD1","DEF6","DGKE","DHDDS","DHFR","DHTKD1","DIABLO","DIAPH1","DIAPH3","DKC1","DMD","DNAH9","DNAJC3","DNAJC30","DNAJC6","DNASE1L3","DNM1L","DNM2","DOK7","DPM3","DPYD","DSC2","DSG2","DSP","DUSP6","DUT","DYSF","DZIP1L","EFHC1","EGR2","EIF2AK2","EIF2AK4","EIF2B1","EIF2B4","ELF4","EMD","ENPP1","EPRS1","ERCC4","ERCC6L2","ESR1","EXT1","EXT2","FA2H","FANCM","FBN1","FDPS","FDX2","FDXR","FEZF1","FGF17","FGFR3","FHL1","FIG4","FKTN","FLNC","FLRT3","FN1","FOCAD","FOXC1","FOXD3","FSHR","FTL","FXN","G6PD","GABRA3","GAL","GALNS","GALNT3","GAN","GANAB","GBA2","GCDH","GCK","GFAP","GFPT1","GIMAP5","GJC2","GK","GLA","GLB1","GNAL","GNAS","GNB4","GNPTAB","GNRH1","GNRHR","GPNMB","GTPBP3","H6PD","HADHB","HAVCR2","HCN4","HGSNAT","HINT1","HK1","HPCA","HPDL","HPRT1","HPS3","HPS5","HSCB","HSD11B1","HSPB8","HTRA1","HYAL1","HYDIN","IBA57","IDH3A","IDS","IFIH1","IFNAR1","IFT140","IGHMBP2","IKZF1","IL36RN","IL6ST","IMPG2","INF2","INSR","IRF2BPL","IRF3","ISCU","ITK","ITPR1","JAG2","KCNA1","KCNC1","KCND3","KCNJ2","KCNK3","KCNMA1","KCNN2","KCNQ1","KCNT1","KCTD17","KIF12","KIF1A","KIF1C","KIRREL1","KISS1","KISS1R","KIZ","KLF1","KMT2B","KPTN","KRT16","LAMA2","LAMC3","LAMP2","LDHA","LGI1","LIG3","LIPA","LITAF","LMBRD1","LMNA","LMNB2","LMX1B","LOX","LPIN1","LRIG2","LRP12","LTBP2","LYRM7","MACF1","MAF","MAFA","MAFB","MAGT1","MAP1B","MAPKBP1","MARCHF6","MARS2","MBD4","MCCC1","MCCC2","MCM3AP","MCM6","MCM9","MECR","MEFV","MFN2","MFSD8","MGME1","MICAL1","MIEF2","MLIP","MMP13","MMP2","MOCOS","MORC2","MPV17","MPZ","MPZL2","MRE11","MRPS22","MSH5","MTRFR","MVK","MYBPC3","MYH14","MYH7","MYH9","MYL3","MYMK","MYO1E","MYOZ2","MYPN","MYRF","NAGLU","NCF1","NCF2","NDUFAF6","NDUFS3","NDUFS8","NEFL","NEXN","NFKB1","NGF","NHLH2","NHP2","NLRP3","NPC1","NPHP1","NPHS2","NR0B1","NR2E3","NRCAM","NRIP1","NT5C2","NUP107","NUP133","NUP160","NUP85","OBSCN","OFD1","OGDHL","ORAI1","OTC","OTULIN","OXGR1","P2RX2","P4HA2","PANK2","PANK4","PAPPA2","PAX8","PAX9","PDCD10","PDE11A","PDE6H","PDGFB","PDGFRB","PDK3","PDXK","PET117","PEX10","PEX7","PFKM","PGK1","PHKA2","PHKG2","PI4KA","PIDD1","PIK3CD","PIK3CG","PIK3R1","PIK3R5","PKD2","PLA2G6","PLCE1","PLEKHG5","PLP1","PMP2","PMP22","PMVK","PNKP","PNPLA6","POLE","POLG","POLR3A","POLR3B","POMGNT1","POMGNT2","PPA2","PPARG","PPP2CA","PPT1","PRDM16","PRDX3","PRICKLE1","PRKAG2","PRKAR1A","PRKG2","PRKN","PRKRA","PROC","PRPF4","PRPF8","PRRT2","PSENEN","PSMC3IP","PTF1A","PTPRO","PTPRQ","PYGM","PYROXD1","RAB28","RAB7A","RAF1","RCBTB1","REEP1","REEP2","REEP6","RELN","REST","RETREG1","RHBDF2","RIGI","RIPOR2","RNF216","RORB","RP1","RP2","RPA1","RPS10","RRAGD","RYR1","RYR2","RYR3","SAMD9L","SBF1","SBF2","SCARB2","SCN1A","SCN4A","SCN4B","SCN5A","SCN9A","SCNN1B","SCNN1G","SCP2","SDHD","SEC23B","SEC61A1","SEMA3E","SERPINB7","SETX","SFRP4","SGCA","SGCB","SGCD","SGCE","SGCG","SGO1","SGPL1","SH3BP2","SH3TC2","SHANK3","SIGMAR1","SLC12A3","SLC12A5","SLC13A3","SLC16A1","SLC17A9","SLC19A1","SLC19A2","SLC19A3","SLC25A15","SLC25A19","SLC26A3","SLC2A1","SLC2A10","SLC30A9","SLC34A2","SLC37A4","SLC39A14","SLC39A5","SLC4A1","SLC4A3","SLC52A3","SLC5A6","SLC5A7","SLC6A1","SLC6A2","SLC7A6OS","SLCO2A1","SMAD9","SMN1","SMN2","SMPD1","SNORD118","SOCS1","SOHLH1","SPG11","SPIDR","SPRY4","SPTLC1","SPTLC2","SRA1","SSBP1","STAT1","STAT3","STIM1","STK4","STN1","STT3A","STX1B","SVIL","SYNE2","TACO1","TBC1D8B","TBK1","TBX18","TCF4","TDP1","TECRL","TERT","TGFB1","TGFB3","TGFBI","TGFBR1","THAP1","THRB","TIE1","TINF2","TLCD3B","TLR3","TLR7","TLR8","TMC1","TMEM126B","TMEM151A","TMEM53","TNC","TNFAIP3","TNFRSF4","TNFRSF9","TNNC1","TNNI3","TNNT1","TNNT2","TNPO3","TOM1","TOR1AIP1","TPM2","TPM3","TRAF3IP2","TRAPPC2","TRDN","TRPM3","TRPV4","TTBK2","TTC19","TTPA","TUB","TUBA3D","TUBB4A","TULP3","TWNK","TYMP","TYMS","UBA5","UBAP1","UBQLN2","UCHL1","UMOD","UNC13D","USP48","USP53","VAMP1","VHL","VPS16","WARS1","WARS2","WDR11","WDR19","WFS1","WRN","XPA","YEATS2","ZMYND10","ZNF408","ZNF513","ZNFX1","ZSWIM7"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NEONATAL_ONSET":{"collection":"C5:HPO","systematicName":"M36359","pmid":"","exactSource":"HP:0003623","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003623","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEONATAL_ONSET","geneSymbols":["ABAT","ABCC8","ABCD4","ABHD16A","ACADS","ACADVL","ACSL5","ACTA1","ACY1","ADA","ADA2","ADAR","ADK","ADNP","ADSL","AGK","AGPAT2","AGR2","AKR1D1","ALDH7A1","ALG11","ALG12","AMACR","AMT","ANK1","ANO1","AP1S2","AP3B2","AP4E1","AP4S1","AQP2","ARG1","ARHGDIA","ARL13B","ARL2BP","ARNT2","ARX","ASL","ASNS","ASS1","ATP11A","ATP13A3","ATP1A1","ATP1A2","ATP1A3","ATP2A1","ATP5F1A","ATP5F1D","ATP5PO","ATP6AP1","ATP6AP2","ATP6V0A1","ATP6V0A4","AUTS2","AVPR2","BRAF","BRAT1","BTK","C12orf57","C1QBP","C1QC","C2orf69","CA5A","CACNA1A","CACNA1C","CACNA1G","CACNA1I","CACNA1S","CACNA2D2","CALM2","CARMIL2","CAV1","CBS","CCDC78","CD320","CD79A","CDC42BPB","CDSN","CELF2","CEP120","CFAP300","CFAP410","CHAMP1","CHAT","CHRND","CHRNE","CHST14","CIC","CILK1","CLCN3","CLCN7","CLDN1","CLPB","CNOT1","CNTN1","COL12A1","COL7A1","COQ9","COX10","COX11","COX15","COX16","COX4I2","CPS1","CRLS1","CRYAB","CSF3R","CTNNB1","CYP11B1","CYP11B2","CYP7B1","DCDC2","DCN","DENND5A","DGAT1","DGUOK","DIAPH1","DNAAF5","DNAAF6","DNAH5","DNAI2","DNAJC21","DNAL1","DNASE2","DNM1L","DOCK2","DOHH","DRC1","DUT","EBF3","EEF1A2","EIF3F","ENPP1","EPCAM","ERCC5","EXTL3","F13A1","FARS2","FBP1","FGF12","FGF13","FKRP","FOCAD","FOXRED1","FRMD5","G6PC3","GABRG2","GAD1","GCDH","GET3","GFPT1","GGCX","GJB2","GLIS3","GLRB","GLUD1","GLYCTK","GMPPA","GMPPB","GNAO1","GPHN","GRIK2","GRIN1","GRIN2D","GTPBP3","GUCY1A1","GUF1","H1-4","HACD1","HADH","HADHA","HADHB","HCFC1","HCK","HDAC4","HID1","HLCS","HNF4A","HPD","HPDL","HPS5","HR","HSD17B4","HSD3B7","HSPD1","HTRA2","HYDIN","HYOU1","IFIH1","IL1RN","IL2RG","IL36RN","IRS4","ITGA2B","ITGA3","ITGB2","ITGB3","KCNB1","KCNC2","KCNJ1","KCNJ11","KCNJ13","KCNJ5","KCNMA1","KCNQ2","KCNT1","KCNT2","KDM5B","KIF12","KIF14","KIF5A","KRT10","KRT14","KRT5","KYNU","LAMA3","LAMB2","LBX1","LCT","LIAS","LIPT2","LMBRD1","LRPPRC","LSS","LTBP1","LTBP3","LYRM4","LYST","MAG","MAGEL2","MARS1","MCIDAS","MDH2","MINPP1","MMAB","MMUT","MOCS2","MPDU1","MRPL3","MRPS34","MTRR","MUSK","MYBPC3","MYL2","MYO1H","MYO5B","NAA20","NDUFA10","NDUFA11","NDUFA2","NDUFA9","NDUFAF3","NDUFS1","NDUFS2","NDUFS6","NDUFS8","NDUFV2","NEDD4L","NEUROG3","NFASC","NFIX","NFU1","NHLRC2","NKX2-1","NLRC4","NLRP12","NLRP3","NOS1AP","NPC2","NR0B1","NR1H4","NR3C2","NSD1","NSRP1","NUDT2","NUP133","NUP214","OCLN","ODAD1","ODAD4","OSTM1","OTC","OTX2","OXCT1","PACS2","PAX8","PCDHGC4","PDP1","PDSS2","PEX1","PEX2","PEX6","PHOX2B","PIGP","PIGU","PKHD1","PLPBP","PLVAP","PLXNA1","PMM2","PNLIP","POLE","POMC","POMP","PPCS","PPP1R21","PPP2CA","PROC","PROS1","PSAP","PSAT1","PSMB10","PTF1A","PTS","PURA","PXDN","QARS1","RAC1","RBCK1","RBL2","RHAG","RHOBTB2","RIPK1","RIPOR2","RNF125","RP1L1","RPL3L","RPS19","RRM2B","RYR1","SAMD9","SAMHD1","SCN3A","SCN4A","SCN8A","SCN9A","SCNN1A","SCNN1B","SCNN1G","SCO2","SECISBP2","SELENOI","SELENON","SERPINB7","SFTPB","SH3PXD2B","SHMT2","SIN3A","SKIC2","SLC10A1","SLC10A2","SLC12A6","SLC13A5","SLC1A2","SLC25A1","SLC25A13","SLC25A22","SLC2A1","SLC2A10","SLC2A2","SLC35A2","SLC37A4","SLC38A3","SLC39A7","SLC51B","SLC5A1","SLC6A3","SLC6A5","SMARCA2","SMARCAD1","SMN1","SNX14","SOX10","SOX11","SPATA7","SPTBN4","ST3GAL5","STAG1","STAT3","STING1","STS","STT3A","STX3","STXBP1","SUCLG1","SUOX","SUPT16H","SYNJ1","TDO2","TELO2","TFAM","TJP2","TMEM163","TMEM240","TMEM38B","TNFRSF11A","TNFSF11","TNNT1","TOR1A","TP53","TP73","TPI1","TPM1","TRAF7","TRAPPC4","TRIP4","TRMT10C","TRMT5","TRMU","TRNT1","TRPV4","TSFM","TSHR","TSPYL1","TTN","TUBA1A","UBA1","UBA5","UBE3C","UFSP2","UGT1A1","UNC13D","UPF3B","UQCC2","UQCC3","USP18","USP53","VAMP1","VARS2","VDR","VIPAS39","VPS45","VPS50","WARS2","WASHC4","WDR45B","XPA","ZBTB20","ZNF142","ZNF408"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LOSS_OF_SUBCUTANEOUS_ADIPOSE_TISSUE_IN_LIMBS":{"collection":"C5:HPO","systematicName":"M36360","pmid":"","exactSource":"HP:0003635","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003635","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOSS_OF_SUBCUTANEOUS_ADIPOSE_TISSUE_IN_LIMBS","geneSymbols":["CAV1","CIDEC","LIPE","LMNA","LMNB2","PLIN1","POLD1","PPARG","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HEMOGLOBINURIA":{"collection":"C5:HPO","systematicName":"M36361","pmid":"","exactSource":"HP:0003641","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003641","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEMOGLOBINURIA","geneSymbols":["ALDOA","CASK","CD46","CD59","CFH","CFI","G6PD","HELLPAR","NT5C3A","PIEZO1","PIGA","PIGT"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_TYPE_I_TRANSFERRIN_ISOFORM_PROFILE":{"collection":"C5:HPO","systematicName":"M36362","pmid":"","exactSource":"HP:0003642","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003642","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TYPE_I_TRANSFERRIN_ISOFORM_PROFILE","geneSymbols":["ALG1","ALG11","ALG12","ALG13","ALG2","ALG3","ALG6","ALG8","DDOST","DOLK","DPAGT1","DPM1","DPM2","DPM3","MAGT1","MPDU1","MPI","PMM2","RFT1","SRD5A3","SSR4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PROLONGED_PARTIAL_THROMBOPLASTIN_TIME":{"collection":"C5:HPO","systematicName":"M36363","pmid":"","exactSource":"HP:0003645","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003645","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROLONGED_PARTIAL_THROMBOPLASTIN_TIME","geneSymbols":["ABCD3","AKR1D1","ALG12","ALG13","ALG2","AMACR","B4GALT1","DPM1","EFL1","F10","F11","F12","F2","F5","F8","F9","FAH","GATA6","GGCX","GNE","HLA-DQA1","HLA-DQB1","KLKB1","KNG1","LMAN1","LRPPRC","LZTR1","MCFD2","PGM1","PLOD3","PMM2","SLC37A4","SOS1","VPS33B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LACTICACIDURIA":{"collection":"C5:HPO","systematicName":"M36364","pmid":"","exactSource":"HP:0003648","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003648","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LACTICACIDURIA","geneSymbols":["ATPAF2","BCS1L","CA5A","GATM","LDHD","LIPT1","LYRM4","MT-ATP6","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND5","MT-ND6","MT-TK","MT-TL1","MT-TV","MT-TW","NDUFA9","NDUFB10","NDUFS4","NFS1","NFU1","PDP1","PET117","SDHD","SLC25A21","SUCLG1","TMEM126B","TRMU"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FOAM_CELLS":{"collection":"C5:HPO","systematicName":"M36365","pmid":"","exactSource":"HP:0003651","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003651","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOAM_CELLS","geneSymbols":["APOE","ASAH1","CSF2RA","CSF2RB","GLB1","HLA-DRB1","LCAT","LIPA","NEU1","NPC1","NPC2","PIK3CG","SC5D","SMPD1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RECURRENT_MYOGLOBINURIA":{"collection":"C5:HPO","systematicName":"M45409","pmid":"","exactSource":"HP:0003652","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003652","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_MYOGLOBINURIA","geneSymbols":["COQ2","HADHB","LPIN1","MT-CO1","MT-CO3","OBSCN","PYGM"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_VASCULAR_GRANULAR_OSMIOPHILIC_MATERIAL_DEPOSITION":{"collection":"C5:HPO","systematicName":"M46090","pmid":"","exactSource":"HP:0003657","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003657","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VASCULAR_GRANULAR_OSMIOPHILIC_MATERIAL_DEPOSITION","geneSymbols":["CLN6","CLN8","CTSD","DNAJC5","HTRA1","NOTCH3","PPT1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPOMETHIONINEMIA":{"collection":"C5:HPO","systematicName":"M36366","pmid":"","exactSource":"HP:0003658","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003658","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOMETHIONINEMIA","geneSymbols":["ABCD4","LMBRD1","MMACHC","MMADHC","MTHFR","MTR","MTRR","PRDX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PROGRESSIVE":{"collection":"C5:HPO","systematicName":"M36368","pmid":"","exactSource":"HP:0003676","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003676","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROGRESSIVE","geneSymbols":["AAAS","AARS2","ABCD1","ABCD3","ACER3","ADA2","ADH1C","ADK","AFG3L2","AGTPBP1","AIFM1","AIMP1","AIMP2","AKT1","ALDH18A1","ALS2","ANO5","ANTXR2","AP5Z1","ASAH1","ASNS","ATAD1","ATL1","ATP11A","ATXN2","ATXN3","ATXN8OS","B4GALNT1","BRAT1","BSCL2","C19orf12","CACNA1A","CAD","CCNO","CERS1","CFHR5","CHCHD10","CHRND","CLPB","COASY","COCH","COL4A3","COL4A4","COL4A5","COL6A1","COL6A2","COL6A3","COPB2","COQ2","COQ8B","CRAT","CSF1R","CTC1","CTSF","CYP7B1","DARS1","DCDC2","DDHD2","DEGS1","DGKE","DIABLO","DMXL2","DNAJB11","DNM1L","DNMT1","DPM1","DRD3","ELMO2","ELP1","ELP2","EMC1","EPRS1","ERLIN1","ERLIN2","EXOSC9","FA2H","FAN1","FHL1","FIG4","FKTN","FTL","GBA1","GBA2","GEMIN5","GLUD2","GNAS","GNS","GOSR2","GPT2","GRHL2","HINT1","HK1","HPDL","HSPD1","IBA57","INF2","INPP5K","IREB2","IRF2BPL","ISCA1","ISCA2","JAG2","KCNC1","KCNK3","KCNQ4","KCNT1","KCTD17","KCTD7","KIF1A","KIF1C","KIF5A","KLC2","KMT2B","KPNA3","LAMB1","LIMS2","LMNA","LMNB1","LMNB2","LYRM7","MAP2K1","MAPKBP1","MAPT","MARS1","MECP2","MECR","MED17","MFF","MFSD2A","MGME1","MICOS13","MOCS1","MOCS2","MPV17","MRE11","MRPS34","MT-TT","MTAP","MTRFR","MYH14","MYO1E","MYORG","NAGLU","NALCN","NBEAL2","NDUFA12","NDUFAF2","NDUFB9","NDUFS1","NDUFS7","NEFH","NIPA1","NKX6-2","NOP56","NR4A2","NUP107","NUP133","NUP160","NUP214","NUP85","NUP93","OPA1","OPTN","PABPN1","PCLO","PCNA","PDGFB","PDGFRB","PDXK","PEX16","PIEZO2","PIK3R5","PKD2","PLA2G6","PLCE1","PMPCB","PNPLA6","PNPLA8","POLG","POLG2","POLR3A","POLR3B","POMGNT1","PRDM8","PRICKLE1","PRKRA","PRUNE1","PTRH2","PUM1","PYCR2","QARS1","RARS2","RBCK1","REPS1","RETREG1","RNASEH1","RNASEH2C","RRM2B","RTN2","RUBCN","SBF1","SEC61A1","SETX","SGCA","SGPL1","SIGMAR1","SLC12A6","SLC20A2","SLC25A4","SLC33A1","SLC39A14","SLC44A4","SLC52A2","SLC52A3","SLC6A3","SLC9A1","SMAD9","SMN1","SMN2","SNCA","SNCAIP","SNORD118","SOST","SOX18","SPAST","SPG11","SPRY2","SQSTM1","STIM1","STUB1","SYNE1","SYNJ1","TBC1D24","TBCE","TBK1","TBP","TFAM","TJP2","TK2","TNFRSF11A","TNFRSF11B","TRAK1","TRAPPC12","TRAPPC2L","TRAPPC6B","TREX1","TRPC3","TTN","TTR","TUBB4A","TWNK","TXN2","TYMP","UBA5","UBQLN2","UCHL1","UMOD","VAC14","VARS1","VCP","VPS13A","VPS13C","VPS53","VRK1","WASHC5","WDR45B","WT1","XPR1","XRCC1","YARS2","ZFYVE26"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SLOWLY_PROGRESSIVE":{"collection":"C5:HPO","systematicName":"M36369","pmid":"","exactSource":"HP:0003677","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003677","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SLOWLY_PROGRESSIVE","geneSymbols":["ABHD12","ACTA1","ACTN4","ADSS1","AFG3L2","AIFM1","ALDH18A1","ALG14","ALG2","ALS2","AP4B1","AR","ATP1A1","ATP6AP2","ATP7A","BSCL2","C19orf12","CACNA1G","CCDC88C","CFL2","CHCHD10","CHKB","CLCN5","CLN8","COA7","COL6A1","COL6A2","COL6A3","COX6A1","CPT1C","CRPPA","CRYAB","CWF19L1","DAB1","DARS2","DCTN1","DDHD1","DNA2","DNAJB2","DNAJB6","DNAJC6","DNM1L","DNM2","DPAGT1","DYNC1H1","DYSF","DZIP1L","EEF2","ELOVL5","EMD","ERLIN2","FARS2","FAT2","FBXO38","FBXO7","FLNC","FLVCR1","FN1","FRG1","FZD4","FZD6","GAN","GARS1","GBE1","GDAP2","GJB1","GNB4","GRM1","GYG1","HEPACAM","HNRNPA1","HNRNPDL","HPCA","HSPB1","HSPB3","IBA57","IGHMBP2","ITPR1","KBTBD13","KCNC3","KCND3","KIF1A","KIF1B","KY","LAMA2","LMNA","LRP12","LRP5","LRRK2","LRSAM1","MAG","MAP3K20","MARS1","MCM2","MCM3AP","MECP2","MFN2","MME","MORC2","MPZ","MTMR14","MTPAP","MYH7","MYMK","MYOT","MYPN","NDUFA13","NEFL","NLRP3","NOL3","ORAI1","PANK2","PARK7","PDE8B","PDK3","PDYN","PEX10","PEX2","PINK1","PLD3","PLP1","PMP2","PMP22","PNPLA2","POGLUT1","POMT1","PRKCG","PRX","PYROXD1","REEP2","RETREG1","RFC1","RNASET2","RYR1","SCN9A","SETX","SIGMAR1","SLC25A4","SLC34A2","SLC5A7","SMN1","SPG11","SPG21","SPTBN2","STIM1","SURF1","SYNE1","SYT14","TBC1D24","TEAD1","TENM4","TFG","TGM6","TIA1","TMEM240","TMEM43","TOR1AIP1","TPP1","TRIM32","TTN","VMA21","VWA3B","WARS1","WNK1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RAPIDLY_PROGRESSIVE":{"collection":"C5:HPO","systematicName":"M36370","pmid":"","exactSource":"HP:0003678","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003678","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RAPIDLY_PROGRESSIVE","geneSymbols":["APOE","ARHGDIA","ATP13A2","BAG3","C9orf72","COQ6","CRYAB","CSF1R","DCTN1","DNAJC5","DNAJC6","DYSF","EPM2A","FHL1","GDAP1","GRN","HLA-DQB1","LYRM7","MFSD8","NAXE","NHLRC1","NPHS1","NPHS2","NR1H4","PANK2","PEX10","PLA2G6","PLEC","PLEKHG5","PNKP","POLG","PRNP","PSEN1","SCARB2","SGCG","SNCA","TARDBP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PACE_OF_PROGRESSION":{"collection":"C5:HPO","systematicName":"M36371","pmid":"","exactSource":"HP:0003679","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003679","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PACE_OF_PROGRESSION","geneSymbols":["AAAS","AARS2","ABCD1","ABCD3","ABHD12","ACER3","ACTA1","ACTN4","ADA2","ADH1C","ADK","ADSS1","AFG3L2","AGTPBP1","AIFM1","AIMP1","AIMP2","AKT1","ALDH18A1","ALG14","ALG2","ALS2","ANO5","ANTXR2","AP4B1","AP5Z1","APOE","AR","ARHGDIA","ASAH1","ASNS","ATAD1","ATG5","ATL1","ATN1","ATP11A","ATP13A2","ATP1A1","ATP2B3","ATP6AP2","ATP7A","ATXN2","ATXN3","ATXN8OS","B4GALNT1","BAG3","BRAT1","BSCL2","C19orf12","C9orf72","CACNA1A","CACNA1G","CAD","CCDC88C","CCNO","CERS1","CFHR5","CFL2","CHCHD10","CHKB","CHRND","CHRNE","CLCN5","CLDN14","CLN8","CLPB","COA7","COASY","COCH","COL4A3","COL4A4","COL4A5","COL6A1","COL6A2","COL6A3","COPB2","COQ2","COQ6","COQ8B","COX6A1","CPT1C","CRAT","CRPPA","CRYAB","CSF1R","CTC1","CTSF","CWF19L1","CYP7B1","DAB1","DARS1","DARS2","DCDC2","DCTN1","DDHD1","DDHD2","DEGS1","DGKE","DIABLO","DMXL2","DNA2","DNAJB11","DNAJB2","DNAJB6","DNAJC5","DNAJC6","DNM1L","DNM2","DNMT1","DPAGT1","DPM1","DRD3","DYNC1H1","DYSF","DZIP1L","EEF2","ELMO2","ELOVL5","ELP1","ELP2","EMC1","EMD","EPM2A","EPRS1","ERLIN1","ERLIN2","EXOSC9","FA2H","FAN1","FARS2","FAT2","FBXO38","FBXO7","FGF14","FHL1","FIG4","FKTN","FLNC","FLVCR1","FN1","FRG1","FTL","FZD4","FZD6","GAN","GARS1","GBA1","GBA2","GBE1","GDAP1","GDAP2","GEMIN5","GFPT1","GJB1","GLUD2","GNAS","GNB4","GNS","GOSR2","GPT2","GRHL2","GRM1","GRN","GYG1","HEPACAM","HINT1","HK1","HLA-DQB1","HNRNPA1","HNRNPDL","HOXB1","HPCA","HPDL","HSPB1","HSPB3","HSPD1","IBA57","IGHMBP2","ILDR1","INF2","INPP5K","IREB2","IRF2BPL","ISCA1","ISCA2","ITPR1","JAG2","KBTBD13","KCNC1","KCNC3","KCND3","KCNK3","KCNQ4","KCNT1","KCTD17","KCTD7","KIF1A","KIF1B","KIF1C","KIF5A","KLC2","KMT2B","KPNA3","KRT12","KY","LAMA2","LAMB1","LIMS2","LMNA","LMNB1","LMNB2","LRP12","LRP5","LRRK2","LRSAM1","LYRM7","MAG","MAP2K1","MAP3K20","MAPKBP1","MAPT","MARCHF6","MARS1","MCM2","MCM3AP","MECP2","MECR","MED17","MFF","MFN2","MFSD2A","MFSD8","MGME1","MICOS13","MME","MOCS1","MOCS2","MORC2","MPV17","MPZ","MRE11","MRPS34","MT-TT","MTAP","MTMR14","MTPAP","MTRFR","MYH14","MYH7","MYMK","MYO1E","MYORG","MYOT","MYPN","NAGLU","NALCN","NAXE","NBEAL2","NDUFA12","NDUFA13","NDUFAF2","NDUFB9","NDUFS1","NDUFS7","NEFH","NEFL","NHLRC1","NIPA1","NKX6-2","NLRP3","NOL3","NOP56","NPHS1","NPHS2","NR1H4","NR4A2","NUP107","NUP133","NUP160","NUP214","NUP85","NUP93","OPA1","OPTN","ORAI1","PABPN1","PANK2","PARK7","PCLO","PCNA","PDE10A","PDE8B","PDGFB","PDGFRB","PDK3","PDXK","PDYN","PEX10","PEX16","PEX2","PIEZO2","PIK3R5","PINK1","PKD2","PLA2G6","PLCE1","PLD3","PLEC","PLEKHG5","PLP1","PMP2","PMP22","PMPCA","PMPCB","PNKP","PNPLA2","PNPLA6","PNPLA8","POGLUT1","POLG","POLG2","POLR3A","POLR3B","POMGNT1","POMT1","PRDM8","PRICKLE1","PRKCG","PRKRA","PRNP","PRUNE1","PRX","PSEN1","PTRH2","PUM1","PYCR2","PYROXD1","QARS1","RARS2","RBCK1","REEP2","REPS1","RETREG1","RFC1","RNASEH1","RNASEH2C","RNASET2","RRM2B","RTN2","RUBCN","RYR1","SAMD12","SBF1","SCARB2","SCN8A","SCN9A","SEC61A1","SETX","SGCA","SGCG","SGPL1","SIGMAR1","SLC12A6","SLC20A2","SLC25A4","SLC33A1","SLC34A2","SLC39A14","SLC44A4","SLC52A2","SLC52A3","SLC5A7","SLC6A3","SLC9A1","SMAD9","SMN1","SMN2","SNCA","SNCAIP","SNORD118","SOST","SOX18","SPAST","SPG11","SPG21","SPRY2","SPTBN2","SQSTM1","STARD7","STIM1","STUB1","SURF1","SYNE1","SYNJ1","SYT14","TARDBP","TBC1D24","TBCE","TBK1","TBP","TEAD1","TENM4","TFAM","TFG","TGM6","TIA1","TJP2","TK2","TMEM240","TMEM43","TNFRSF11A","TNFRSF11B","TOR1AIP1","TPP1","TRAK1","TRAPPC12","TRAPPC2L","TRAPPC6B","TREX1","TRIM32","TRPC3","TRPV4","TTN","TTR","TUBB4A","TUBB6","TWNK","TXN2","TYMP","UBA5","UBQLN2","UCHL1","UMOD","VAC14","VARS1","VCP","VLDLR","VMA21","VPS13A","VPS13C","VPS53","VRK1","VWA3B","WARS1","WASHC5","WDR45B","WNK1","WT1","XPR1","XRCC1","YARS2","YEATS2","ZFYVE26"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NONPROGRESSIVE":{"collection":"C5:HPO","systematicName":"M36372","pmid":"","exactSource":"HP:0003680","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003680","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NONPROGRESSIVE","geneSymbols":["ATG5","ATN1","ATP2B3","CHRNE","CLDN14","COL4A4","FGF14","GFPT1","HOXB1","ILDR1","KRT12","MARCHF6","PDE10A","PMPCA","SAMD12","SCN8A","STARD7","TRPV4","TUBB6","VLDLR","YEATS2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CENTRALLY_NUCLEATED_SKELETAL_MUSCLE_FIBERS":{"collection":"C5:HPO","systematicName":"M36374","pmid":"","exactSource":"HP:0003687","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003687","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CENTRALLY_NUCLEATED_SKELETAL_MUSCLE_FIBERS","geneSymbols":["ACTA1","ADGRG6","ALG2","ANXA11","BIN1","BVES","CACNA1S","CAPN3","CASQ1","CAV3","CAVIN1","CCDC78","DNM2","DPM3","FXR1","GGPS1","HNRNPA1","HNRNPA2B1","JAG1","MAP3K20","MATR3","MB","MICU1","MLIP","MTM1","MTMR14","MYF6","MYH7","OBSCN","ORAI1","PLIN4","POLG","POMT1","PYROXD1","RYR1","RYR3","SCN4A","SELENON","SIL1","SMN1","SMPX","SPEG","STIM1","SYNE1","SYNE2","TNPO3","TOR1AIP1","TPM3","TRIM32","TRIP4","TTN","TWNK","UNC45B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CYTOCHROME_C_OXIDASE_NEGATIVE_MUSCLE_FIBERS":{"collection":"C5:HPO","systematicName":"M36375","pmid":"","exactSource":"HP:0003688","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003688","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CYTOCHROME_C_OXIDASE_NEGATIVE_MUSCLE_FIBERS","geneSymbols":["AARS2","BRAT1","COA3","COA8","COX10","COX6A2","COX6B1","DGUOK","ETHE1","GTPBP3","LRPPRC","MIEF2","MRPL44","MT-TE","MT-TN","MT-TS1","NDUFA4","POLG","POLG2","PUS1","RNASEH1","RRM2B","SLC25A4","SLC25A42","SURF1","TACO1","TK2","TRMT5","TRMU","TWNK","TYMP","YARS2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MULTIPLE_MITOCHONDRIAL_DNA_DELETIONS":{"collection":"C5:HPO","systematicName":"M41289","pmid":"","exactSource":"HP:0003689","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003689","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MULTIPLE_MITOCHONDRIAL_DNA_DELETIONS","geneSymbols":["DGUOK","DNA2","LIG3","MGME1","POLG","POLG2","RRM2B","SLC25A4","TWNK","TYMP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LIMB_MUSCLE_WEAKNESS":{"collection":"C5:HPO","systematicName":"M36376","pmid":"","exactSource":"HP:0003690","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003690","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIMB_MUSCLE_WEAKNESS","geneSymbols":["AARS1","ABCD1","ACOX1","ACTA1","ACTN2","ADAR","ADSS1","AFG3L2","AGRN","AIFM1","AK9","AKT1","ALAD","ALDH18A1","AMPD1","AMPD3","ANO5","ANXA11","AP5Z1","AR","ASAH1","ATL1","ATL3","ATP1A1","ATP5MC3","ATP7B","B4GALNT1","BAG3","BAP1","BICD2","BIN1","BSCL2","BTD","BVES","CACNA1S","CADM3","CAPN1","CAPN3","CAV1","CCND1","CCNF","CD59","CFL2","CHAT","CHCHD10","CHRNA1","CHRNB1","CHRND","CHRNE","COA7","COL12A1","COL13A1","COL25A1","COL6A1","COL6A2","COL6A3","COLQ","COX20","COX6A1","CPOX","CPT1C","CRPPA","CRYAB","CYP27A1","CYP7B1","DCTN1","DDHD1","DDHD2","DES","DGUOK","DHTKD1","DMD","DMXL2","DNAJB2","DNM2","DNMT3B","DOK7","DSTYK","DYM","DYNC1H1","DYSF","EGR2","EIF2B2","EIF2B3","EMD","EMILIN1","ERGIC1","ERLIN2","EXTL3","FA2H","FARS2","FBLN5","FBXO38","FDX2","FGD4","FHL1","FKTN","FLI1","FLNC","GAA","GABRA3","GALC","GAN","GARS1","GBA2","GBF1","GDAP1","GFAP","GIPC1","GJB1","GMPPB","GNB1","GNB2","GNB4","GNE","GYG1","HACD1","HADHA","HADHB","HARS1","HEXB","HINT1","HK1","HMBS","HNRNPA1","HSPB1","HSPB3","HSPB8","HSPD1","HSPG2","HYCC1","IBA57","IGHMBP2","INF2","ITGA7","JAG1","JAG2","KARS1","KBTBD13","KCNJ10","KCNJ18","KIF1A","KIF1B","KIF5A","KLHL41","KPNA3","KY","L1CAM","LAMA2","LAMP2","LBR","LDB3","LIG3","LIPE","LMNA","LMOD3","LPIN1","LRP12","LRP4","LRSAM1","LYST","MAP3K20","MAPT","MARS1","MATR3","MB","MCM3AP","MEGF10","MFN2","MLIP","MME","MORC2","MPV17","MPZ","MRPS2","MT-ATP6","MT-CO1","MT-CO3","MTAP","MTHFR","MTMR14","MTRFR","MTTP","MUSK","MYF6","MYH14","MYH7","MYL2","MYO9A","MYOT","MYPN","NDRG1","NEB","NEFH","NEFL","NF1","NF2","NIPA1","NOTCH2NLC","NUP54","NUP62","OBSCN","ORAI1","PABPN1","PDGFB","PDK3","PDXK","PEX7","PHKA1","PHYH","PI4KA","PIEZO2","PIGN","PIK3CA","PLEC","PLIN4","PLOD1","PLP1","PMP2","PMP22","PNKP","PNPLA2","PNPLA6","POGLUT1","POLG","POLG2","POMT1","POPDC3","POU3F4","PPOX","PRNP","PRORP","PRX","PYROXD1","RAB7A","RAI1","RAPSN","RASA1","REEP1","RILPL1","RNASEH1","RNF170","RRM2B","RTN2","RYR1","SACS","SARDH","SBF1","SBF2","SCN4A","SCO2","SCYL1","SCYL2","SDHA","SECISBP2","SELENON","SGCG","SH3TC2","SIGMAR1","SLC12A6","SLC18A3","SLC25A1","SLC25A21","SLC25A4","SLC33A1","SLC52A2","SLC5A6","SLC5A7","SMARCB1","SMARCE1","SMCHD1","SMN1","SMN2","SMO","SMPX","SNAP25","SORD","SPART","SPAST","SPG11","SPG21","SPG7","SPTLC1","SPTLC2","SQSTM1","SUFU","SYNE1","SYNE2","SYT2","TBCE","TCAP","TDP1","TERT","TFG","TIA1","TK2","TMEM43","TNNT1","TPM2","TPM3","TRAF7","TRIM32","TRIP4","TRPV4","TTN","TWNK","TYMP","UBAP1","VAMP1","VAPB","VCP","VHL","VMA21","VPS13A","VPS13D","VWA1","WARS1","WASHC5","YARS1","ZFYVE26","ZFYVE27"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SCAPULAR_WINGING":{"collection":"C5:HPO","systematicName":"M36377","pmid":"","exactSource":"HP:0003691","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003691","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SCAPULAR_WINGING","geneSymbols":["ACTA1","ALG14","ALG2","ANO5","ANXA11","ASH1L","ATP6V0A2","BAG3","BICD2","BIN1","BRAF","C19orf12","CAPN3","CCDC8","COL12A1","COL6A1","COL6A2","COL6A3","COLQ","CRPPA","CSGALNACT1","CUL7","DNM1L","DPAGT1","DSTYK","DYSF","EMD","EMILIN1","EYA1","FBN1","FHL1","FLNA","FLNB","FLNC","FRG1","GDF11","GFPT1","GMPPB","GNE","GYG1","KBTBD13","KCNJ2","KLHL41","LAMB2","LGI4","LMNA","LRIF1","MYBPC1","MYH2","MYH7","MYPN","NEB","NEFL","OBSL1","OPA1","PAX1","PAX3","PLIN4","POGLUT1","POLG","POMT2","PRR12","PTPN11","PUS1","PYROXD1","RAF1","RYR1","RYR3","SCN4A","SEPTIN9","SGCA","SGCB","SGCD","SGCG","SMCHD1","SMPX","SPEG","SPRED2","SPTLC1","SQSTM1","SYNE1","SYNE2","TGFB3","TK2","TMEM43","TNNT1","TNPO3","TPM2","TPM3","TRIO","TRPS1","TRPV4","TTN","TWNK","VCP","VWA1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DISTAL_AMYOTROPHY":{"collection":"C5:HPO","systematicName":"M36378","pmid":"","exactSource":"HP:0003693","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003693","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DISTAL_AMYOTROPHY","geneSymbols":["AARS1","ABCA1","ABHD12","ACTA1","ACTN2","ADCY6","ADSS1","AFG3L2","AGL","AGRN","AIFM1","ALDH18A1","ALS2","ANG","ANO5","APTX","ASAH1","ATAD3A","ATL1","ATL3","ATP1A1","ATP7A","ATXN1","ATXN2","ATXN3","B4GALNT1","BICD2","BSCL2","C19orf12","CADM3","CAV3","CCT5","CEP126","CHAT","CHCHD10","CHP1","CHRNA1","COA7","COASY","COL13A1","COMP","CPLANE1","CPT1C","CUL4B","CYP27A1","DCAF8","DCTN1","DNAJB2","DNM2","DOK7","DYSF","EGR2","FBLN5","FGD4","FLNC","FLRT1","FUS","FXN","GAN","GARS1","GBA2","GBF1","GDAP1","GIPC1","GJB1","GNB4","GNE","HARS1","HINT1","HK1","HNRNPA1","HSPB1","HSPB3","HSPB8","IBA57","IDUA","IGHMBP2","INF2","ITPR3","JAG1","JPH1","KANSL1","KDM5C","KIF1A","KIF1B","KIF1C","KIF5A","KLC2","KLHL9","KRT14","KRT5","LDB3","LITAF","LMNA","LRP12","LRSAM1","MAG","MARS1","MATR3","MED25","MFN2","MME","MORC2","MPV17","MPZ","MRE11","MSTO1","MT-TE","MTMR2","MTRFR","MYH14","MYH7","MYO9A","MYOT","NDRG1","NDUFA9","NEB","NEFL","NEMF","NGLY1","NOTCH2NLC","PDK3","PEX10","PHKA1","PIK3R5","PLEKHG5","PLOD3","PMP2","PMP22","PNKP","PNPLA6","POLG","POMGNT2","PRPS1","PRX","PTRH2","RAB7A","RAI1","REEP1","RILPL1","RYR1","SACS","SBF2","SDHA","SDHAF1","SDHB","SDHD","SETX","SH3TC2","SIGMAR1","SLC12A6","SLC18A3","SLC25A1","SLC25A21","SLC25A46","SLC39A13","SLC52A3","SLC5A6","SLC5A7","SMN1","SMN2","SNAP25","SOX10","SPART","SPAST","SPG11","SPTBN4","SPTLC1","SPTLC2","SQSTM1","STUB1","SVBP","SYT2","TBCE","TCAP","TDP1","TFG","TIA1","TIMM8A","TNR","TOR1AIP1","TPM3","TRIM2","TRPV4","TWNK","TYMP","VAMP1","VAPB","VCP","VPS13A","VPS13D","VRK1","WARS1","YARS1","YY1","ZBTB20","ZC4H2","ZFYVE26"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LATE_ONSET_PROXIMAL_MUSCLE_WEAKNESS":{"collection":"C5:HPO","systematicName":"M36379","pmid":"","exactSource":"HP:0003694","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003694","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LATE_ONSET_PROXIMAL_MUSCLE_WEAKNESS","geneSymbols":["CACNA1S","CRYAB","DES","GABRA3","HNRNPA1","KCNE3","KCNJ18","SCN4A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SCAPULOPERONEAL_AMYOTROPHY":{"collection":"C5:HPO","systematicName":"M47082","pmid":"","exactSource":"HP:0003697","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003697","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SCAPULOPERONEAL_AMYOTROPHY","geneSymbols":["LMNA","MYH7","PLEKHG5","POMT2","TRPV4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DIFFICULTY_STANDING":{"collection":"C5:HPO","systematicName":"M36380","pmid":"","exactSource":"HP:0003698","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003698","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DIFFICULTY_STANDING","geneSymbols":["ABCC8","ATP2B3","CLN8","CYP27B1","CYP2R1","DYM","DYSF","FAR1","GPAA1","GRIN2A","GRM1","KY","MYOT","SLC34A3","SMS","TBCE","TFG","TK2","TRMT5","VDR","WARS2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_GENERALIZED_AMYOTROPHY":{"collection":"C5:HPO","systematicName":"M36381","pmid":"","exactSource":"HP:0003700","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003700","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENERALIZED_AMYOTROPHY","geneSymbols":["ACADSB","ACTA1","ALDH18A1","BAG3","BIN1","C2orf69","CARS1","CHCHD10","CNBP","COL12A1","COL6A1","COL6A2","COL6A3","DALRD3","DARS2","DNA2","DNAJC19","DOK7","EXOSC9","FUS","GMPPB","GPR35","HNRNPA1","HNRNPA2B1","KBTBD13","KIF21A","KLHL41","LAMP2","LMNA","LMNB2","MEGF10","MGME1","MST1","MUSK","MYH7","MYOD1","MYPN","NAGA","NDE1","NEB","NOTCH2NLC","NUP88","OGDH","PGAP1","PIGA","PNPLA2","PNPLA6","POLG","POLR3A","POMT1","PUS1","PYROXD1","RAPSN","RBM28","RNF170","RYR1","SCN4A","SCO2","SCYL1","SELENON","SEMA4D","SGCD","SLC16A2","SLC18A3","SLC52A2","SPEG","SPG11","SPTBN4","SPTLC1","SQSTM1","TARDBP","TBK1","TCF4","TK2","TPM2","TPM3","TRIP4","TTN","TUBA1A","TWNK","UNC45B","VAMP1","VCP","WARS2","YARS2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PROXIMAL_MUSCLE_WEAKNESS":{"collection":"C5:HPO","systematicName":"M36382","pmid":"","exactSource":"HP:0003701","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003701","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROXIMAL_MUSCLE_WEAKNESS","geneSymbols":["ABHD5","ACADM","ACBD5","ACTA1","ACTN2","ADSS1","AGRN","AK9","ALG14","ALG2","ALS2","ANO5","ANXA11","ARMC5","ASAH1","ATP6V1E1","ATP7B","ATXN1","BAG3","BICD2","BIN1","BTNL2","BVES","CACNA1S","CAPN3","CASQ1","CAV3","CAVIN1","CFL2","CHAT","CHCHD10","CHKB","CHRNA1","CHRNB1","CHRND","CHRNE","CNBP","COL12A1","COL13A1","COL6A1","COL6A2","COL6A3","COL9A3","COLQ","COQ8A","CPOX","CPT1C","CRPPA","CRYAB","DAG1","DES","DGUOK","DMD","DMXL2","DNA2","DNAJB6","DNM2","DOK7","DPAGT1","DPM3","DYNC1H1","DYSF","EGR2","EMD","FBXO38","FDX2","FHL1","FKRP","FKTN","FLAD1","FLNC","FUS","FXR1","GAA","GABRA3","GAN","GATM","GDAP1","GFPT1","GIPC1","GMPPB","GNAS","GNE","GOSR2","HACD1","HEXB","HK1","HLA-DRB1","HMBS","HNRNPA1","HNRNPA2B1","HSPG2","IGHMBP2","INPP5K","ITGA7","JAG1","JAG2","JPH1","KCNE3","KCNJ18","KY","LAMA2","LAMB2","LAMP2","LARGE1","LDB3","LIPE","LMNA","LPIN1","LRIF1","LRP12","LRP4","LTBP4","MAP3K20","MB","MEGF10","MFN2","MICU1","MLIP","MORC2","MPZ","MSTO1","MT-ATP6","MT-CO1","MT-CO3","MT-TE","MT-TL1","MT-TL2","MT-TN","MT-TS1","MTAP","MTMR14","MTMR2","MUSK","MYBPC1","MYF6","MYH14","MYH2","MYH7","MYL1","MYMK","MYO9A","MYOT","MYPN","NARS2","NDRG1","NDUFA1","NEB","NEFH","NEFL","NOTCH2NLC","NUTM2B-AS1","OAT","OBSCN","OPA1","ORAI1","PABPN1","PHKA1","PIGN","PLEC","PLEKHG5","PMP22","PNPLA2","PNPLA8","POGLUT1","POLG","POLG2","POLR3GL","POLRMT","POMGNT1","POMGNT2","POMK","POMT1","POMT2","POPDC3","PPOX","PREPL","PRKACA","PRX","PUS1","PYGM","PYROXD1","RAPSN","RBCK1","REEP1","RILPL1","RNU12","RRM2B","RUSC2","RYR1","RYR3","SBF2","SCN4A","SDHA","SDHAF1","SDHB","SDHD","SECISBP2","SELENON","SGCA","SGCB","SGCD","SGCG","SH3TC2","SIGMAR1","SLC12A6","SLC18A3","SLC22A5","SLC25A1","SLC25A21","SLC25A4","SLC25A42","SLC52A3","SLC5A7","SLC9A7","SMN1","SMN2","SMPX","SNAP25","SORD","SPEG","SPG11","SPTLC1","SQSTM1","STAC3","STIM1","SYNE1","SYNE2","SYT2","TAFAZZIN","TARDBP","TBK1","TCAP","TFG","TK2","TMEM126B","TMEM43","TNNT1","TNXB","TOP3A","TPM2","TPM3","TRAPPC11","TRDN","TRIM32","TRPV4","TTN","TWNK","UBA1","UNC45B","VAMP1","VAPB","VCP","VMA21","VWA1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CALF_MUSCLE_PSEUDOHYPERTROPHY":{"collection":"C5:HPO","systematicName":"M36383","pmid":"","exactSource":"HP:0003707","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003707","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CALF_MUSCLE_PSEUDOHYPERTROPHY","geneSymbols":["ANO5","CAV3","CRPPA","DAG1","DMD","FKRP","GMPPB","MYH7","NEB","POMGNT1","POMK","POMT1","POMT2","PPARG","SGCA","SGCB","SGCG","TRIM32"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_EXERCISE_INDUCED_MUSCLE_CRAMPS":{"collection":"C5:HPO","systematicName":"M36384","pmid":"","exactSource":"HP:0003710","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003710","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EXERCISE_INDUCED_MUSCLE_CRAMPS","geneSymbols":["ATP2A1","CAV3","CHCHD10","CPT2","DMD","HINT1","LAMA2","LAMP2","MLIP","PFKM","PGAM2","PGK1","PYGL","PYGM","RYR1","SLC16A1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SKELETAL_MUSCLE_HYPERTROPHY":{"collection":"C5:HPO","systematicName":"M36385","pmid":"","exactSource":"HP:0003712","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003712","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SKELETAL_MUSCLE_HYPERTROPHY","geneSymbols":["ABCC8","ACTB","AFF4","AGA","AGPAT2","AIP","AKT1","ALG3","ALG6","ALG8","AMPD2","ANO5","AR","ARCN1","ARID1A","ARSB","ATP2A1","ATP6V1B2","ATRX","BAZ1B","BCL7B","BIN1","BSCL2","BUD23","CAPN3","CAV1","CAV3","CAVIN1","CCDC47","CDCA7","CDKN1C","CHCHD10","CIDEC","CIZ1","CLCN1","CLIP2","CPSF3","CRPPA","CUL4B","DAG1","DHX16","DLK1","DMD","DNAJC30","DNM2","DNMT3B","DPM3","DUOX2","DUOXA2","DVL1","DYSF","EHMT1","EIF4H","ELN","ERLIN2","FDX2","FHL1","FIBP","FKBP6","FKRP","FKTN","FOS","FOXE1","FOXG1","FRG1","FUCA1","GAA","GATA1","GLB1","GMPPB","GNE","GNPTAB","GNS","GPC3","GPC4","GPR101","GTF2I","GTF2IRD1","GTF2IRD2","GUSB","HELLS","HESX1","HEXB","HNRNPK","HRAS","HS2ST1","HSPG2","HYMAI","IDS","IDUA","IFT140","IGF2","IL6ST","INPP5E","INSR","IPO8","IYD","JAG2","KCNA1","KCNH1","KCNJ11","KCNMA1","KCNN3","KCNQ1","KCNQ1OT1","KLLN","LAMA2","LARGE1","LHX3","LHX4","LIMK1","LIMS2","LIPE","LMNA","LTBP4","MAN2B1","MAN2C1","MAP3K20","MBD5","MED13L","MEG3","METTL27","MICU1","MLXIPL","MPZ","MSTN","MT-TE","MTMR14","MYF6","MYH7","NCF1","NEK9","NKX2-1","NKX2-5","PAX8","PEX1","PIGS","PIGW","PIK3C2A","PIK3CA","PLAGL1","PLEC","PLIN1","PMP22","POLR3A","POMGNT1","POMGNT2","POMK","POMT1","POMT2","POP1","POPDC3","POU1F1","PPARG","PQBP1","PRKAG2","PROP1","PRPS1","PSMB8","PTEN","RASA1","RFC2","RMRP","RNF125","ROR2","RTL1","RYR1","SCN4A","SDHB","SDHC","SDHD","SEC23B","SETBP1","SGCA","SGCB","SGCD","SGCG","SHOX","SLC25A1","SLC26A4","SLC5A5","SMAD4","SMARCA4","SMARCB1","SMN1","SNIP1","SNRPN","SNX14","SPG11","SRY","STT3A","STX1A","TBCK","TBL2","TCAP","TG","THRA","TMEM270","TPO","TRAF3IP2","TRMU","TSHB","TSHR","TTN","UBE3A","UNC45B","USF3","VAPB","VPS33A","VPS37D","WNT5A","ZBTB24","ZEB2","ZFP57"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MUSCLE_FIBER_NECROSIS":{"collection":"C5:HPO","systematicName":"M36386","pmid":"","exactSource":"HP:0003713","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003713","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MUSCLE_FIBER_NECROSIS","geneSymbols":["ACTA1","BVES","COL6A1","COL6A2","COL6A3","DHX16","MEGF10","MLIP","PHKA1","POLG","POPDC3","SGCA","SGCG","SMN1","TWNK","VMA21"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MYOFIBRILLAR_MYOPATHY":{"collection":"C5:HPO","systematicName":"M36387","pmid":"","exactSource":"HP:0003715","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003715","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MYOFIBRILLAR_MYOPATHY","geneSymbols":["ACTA1","AKT1","BAG3","DNAJB6","FHL1","FLNC","KLHL40","LDB3","MYOT","PTEN","TTN"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MINIMAL_SUBCUTANEOUS_FAT":{"collection":"C5:HPO","systematicName":"M47083","pmid":"","exactSource":"HP:0003717","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003717","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MINIMAL_SUBCUTANEOUS_FAT","geneSymbols":["CAV1","KCNJ6","LMNA","NAA10","SKI"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NECK_FLEXOR_WEAKNESS":{"collection":"C5:HPO","systematicName":"M36388","pmid":"","exactSource":"HP:0003722","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003722","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NECK_FLEXOR_WEAKNESS","geneSymbols":["ACTA1","AGRN","AK9","ALS2","CAV3","CFL2","CHCHD10","CHRNA1","CHRNB1","CHRND","CHRNE","CNBP","COL13A1","DES","DOK7","DYSF","FLNC","FUS","GYG1","KBTBD13","KLHL41","LAMA2","LMOD3","LRP4","MEGF10","MUSK","MYH7","NEB","PLIN4","POLG","RAPSN","RNASEH1","RRM2B","SCN4A","SELENON","SGCG","SIGMAR1","SPG11","SPTLC1","TNNT1","TOP3A","TPM2","TRIM32","TTN"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SHOULDER_GIRDLE_MUSCLE_ATROPHY":{"collection":"C5:HPO","systematicName":"M36389","pmid":"","exactSource":"HP:0003724","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003724","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHOULDER_GIRDLE_MUSCLE_ATROPHY","geneSymbols":["ACTB","DES","FKRP","FRG1","GNE","LMNA","MYH7","SGCB","SMN1","SMN2","TPM3","TRIM32","TRPV4","UNC45B","VCP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_QUADRICEPS_MUSCLE_WEAKNESS":{"collection":"C5:HPO","systematicName":"M36390","pmid":"","exactSource":"HP:0003731","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003731","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_QUADRICEPS_MUSCLE_WEAKNESS","geneSymbols":["ADSS1","ANO5","COL12A1","COL6A1","COL6A2","COL6A3","CRYAB","DMD","DYSF","GDAP1","GNE","HSPG2","MFN2","PHKA1","POLG","POLG2","RRM2B","SLC25A4","TNNT1","TRIM32","TTN","TWNK","VCP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_AUTOPHAGIC_VACUOLES":{"collection":"C5:HPO","systematicName":"M36391","pmid":"","exactSource":"HP:0003736","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003736","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AUTOPHAGIC_VACUOLES","geneSymbols":["ACTA1","ACTN2","CRYAB","LDB3","LRP12","MYOT","RILPL1","TNPO3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MITOCHONDRIAL_MYOPATHY":{"collection":"C5:HPO","systematicName":"M36392","pmid":"","exactSource":"HP:0003737","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003737","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MITOCHONDRIAL_MYOPATHY","geneSymbols":["AGK","CAV3","DNA2","FDX2","FOXRED1","ISCU","MSTO1","MT-ATP6","MT-CO1","MT-CO2","MT-CO3","MT-CYB","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND5","MT-ND6","MT-TC","MT-TF","MT-TK","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TT","MT-TV","MT-TW","NDUFA1","NDUFA11","NDUFA6","NDUFAF1","NDUFAF2","NDUFAF3","NDUFAF4","NDUFAF5","NDUFAF8","NDUFB10","NDUFB11","NDUFB3","NDUFB9","NDUFS1","NDUFS2","NDUFS3","NDUFS4","NDUFS6","NDUFS7","NDUFS8","NDUFV1","NDUFV2","NUBPL","OPA1","PNPLA8","POLG","POLG2","PUS1","RRM2B","SLC25A4","TIMMDC1","TK2","TMEM126B","TWNK","TYMP","YARS2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_EXERCISE_INDUCED_MYALGIA":{"collection":"C5:HPO","systematicName":"M36393","pmid":"","exactSource":"HP:0003738","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003738","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EXERCISE_INDUCED_MYALGIA","geneSymbols":["ACADM","ACADVL","AMPD1","AMPD3","ANO5","BIN1","CAV3","CPT2","DNM2","DYSF","FLNC","HNRNPA1","LDHA","LMNA","LPIN1","MATR3","MLIP","MT-CO1","MT-CO3","MTMR14","MYF6","OBSCN","PFKM","PGAM2","PGK1","PHKA1","PYGM","RNASEH1","RRM2B","RYR1","SLC25A42","STIM1","TMEM126B","TRIM32"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MYOCLONIC_SPASMS":{"collection":"C5:HPO","systematicName":"M36394","pmid":"","exactSource":"HP:0003739","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003739","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MYOCLONIC_SPASMS","geneSymbols":["AKT1","BAP1","BRAT1","GNAS","INPP5E","MOCS1","MOCS2","MT-ATP6","NF2","PDGFB","PIK3CA","SLC1A4","SMARCB1","SMARCE1","SMO","STX16","SUFU","TERT","TRAF7","TXN2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CONGENITAL_MUSCULAR_DYSTROPHY":{"collection":"C5:HPO","systematicName":"M36395","pmid":"","exactSource":"HP:0003741","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003741","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONGENITAL_MUSCULAR_DYSTROPHY","geneSymbols":["COL12A1","COL6A1","COL6A2","COL6A3","CRPPA","FKRP","FKTN","GMPPB","ITGA7","LAMA2","LARGE1","LMNA","MYH7","POMGNT1","POMK","POMT1","POMT2","SELENON","TTN"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_GENETIC_ANTICIPATION":{"collection":"C5:HPO","systematicName":"M36396","pmid":"","exactSource":"HP:0003743","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003743","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENETIC_ANTICIPATION","geneSymbols":["ATN1","ATXN1","ATXN10","ATXN2","ATXN3","ATXN7","CACNA1A","SPAST","TERT"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SPORADIC":{"collection":"C5:HPO","systematicName":"M36397","pmid":"","exactSource":"HP:0003745","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003745","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPORADIC","geneSymbols":["ACAT2","ADA2","ADH1C","AKT1","ALDH18A1","ALX3","ATXN2","ATXN8OS","BCL10","CACNA1S","CDON","CHD7","COQ2","CPLX1","CREBBP","CTBP1","DRD5","EHMT1","EP300","FGFR1","FGFR3","FGFRL1","FLCN","FLNB","FOXG1","GATA1","GBA1","GJA5","GJA8","GLI2","GLUD2","GNAQ","GNAS","GNAS-AS1","HERC2","HLA-DRB1","HNF1A","HNF1B","HRAS","IGF2","IRF6","JAK2","KIF1B","KIT","KRAS","LETM1","LMNB2","MAGEL2","MAP2K1","MAPT","MEF2C","MKRN3","MT-TT","MTOR","MYC","NFIA","NFIX","NIPBL","NLGN4X","NPAP1","NR4A2","NRAS","NSD2","OGG1","PAFAH1B1","PBRM1","PDGFRA","PIK3CA","PSEN1","PTDSS1","PWAR1","PWRN1","RAI1","RB1","RNF139","RPS14","RPS6KA3","SDHB","SDHC","SHANK3","SIN3A","SIX3","SKI","SNCAIP","SNORD115-1","SNORD116-1","SNRPN","SPECC1L","STK11","STX16","SUMO1","TBP","TINF2","TSC1","TSC2","TSHR","TUBB4A","UBE3A","VHL","ZBTB20"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PELVIC_GIRDLE_MUSCLE_WEAKNESS":{"collection":"C5:HPO","systematicName":"M36398","pmid":"","exactSource":"HP:0003749","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003749","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PELVIC_GIRDLE_MUSCLE_WEAKNESS","geneSymbols":["ACTA1","AGRN","AK9","ANO5","CHRNA1","CHRNB1","CHRND","CHRNE","COL13A1","CRYAB","DGUOK","DNA2","DNAJB6","DOK7","DPM3","DYSF","FKRP","FLNC","GNE","GYG1","HACD1","HNRNPDL","ITGA7","LRP4","MAP3K20","MT-TE","MUSK","MYH7","MYL2","MYOT","PHKA1","PHKB","PLEC","PNPLA2","RAPSN","RYR1","SCN4A","SELENON","SGCB","SMCHD1","SMN1","SMN2","TNNT1","TNPO3","TPM2","TPM3","TRIM32","TTN","VCP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INCREASED_MUSCLE_FATIGUABILITY":{"collection":"C5:HPO","systematicName":"M36399","pmid":"","exactSource":"HP:0003750","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003750","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_MUSCLE_FATIGUABILITY","geneSymbols":["AMPD1","AMPD3","CACNA1S","CAV3","CHRND","DBH","DMGDH","GABRA3","KCNE3","KCNJ18","PFKM","PGK1","RRM2B","SCN4A","SERPINA6","SLC16A1","STIM1","TMEM126B","TRAPPC11"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_EPISODIC_FLACCID_WEAKNESS":{"collection":"C5:HPO","systematicName":"M36400","pmid":"","exactSource":"HP:0003752","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003752","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EPISODIC_FLACCID_WEAKNESS","geneSymbols":["CACNA1S","GABRA3","KCNE3","KCNJ18","KCNJ2","KCNJ5","SCN4A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SKELETAL_MYOPATHY":{"collection":"C5:HPO","systematicName":"M36402","pmid":"","exactSource":"HP:0003756","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003756","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SKELETAL_MYOPATHY","geneSymbols":["ALDOA","COMP","HADHA","HADHB","MT-TE","PNPLA2","SDHA","SDHAF1","SDHB","SDHD","TAFAZZIN"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_REDUCED_SUBCUTANEOUS_ADIPOSE_TISSUE":{"collection":"C5:HPO","systematicName":"M36403","pmid":"","exactSource":"HP:0003758","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003758","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_SUBCUTANEOUS_ADIPOSE_TISSUE","geneSymbols":["AGPAT2","ATP6V1A","ATP6V1E1","BSCL2","CAV1","ERCC6","ERCC8","FBN1","FH","GNB2","H4C5","IGF1R","INSR","KCNJ6","KCNK9","LEMD2","LMNA","NAA10","PLIN1","POLR3A","PPARG","PTF1A","RBM28","SKI","SLC25A24","SLC2A2","SOX18","TGFB1","TGFB3","TOP3A","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CALCINOSIS":{"collection":"C5:HPO","systematicName":"M36404","pmid":"","exactSource":"HP:0003761","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003761","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CALCINOSIS","geneSymbols":["AGXT","ANAPC1","CASR","GALNT3","GEMIN4","GNAS","LBR","LMNA","RECQL4","SAMD9","STX16","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_UTERUS_DIDELPHYS":{"collection":"C5:HPO","systematicName":"M36405","pmid":"","exactSource":"HP:0003762","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003762","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UTERUS_DIDELPHYS","geneSymbols":["AXIN1","DYNC2H1","DYNC2I1","DYNC2I2","FZD2","GATA3","HOXA13","IFT80","INTU","PPP1R12A","WDR35","WT1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BRUXISM":{"collection":"C5:HPO","systematicName":"M36406","pmid":"","exactSource":"HP:0003763","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003763","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BRUXISM","geneSymbols":["ADNP","AFF3","ANK3","ATG7","CACNA1B","CACNA2D1","CAMK2B","CDKL5","CERT1","DHX30","EEF1A2","FOXG1","GABBR2","GNB2","GRIN1","H4C5","HNRNPK","HTT","KIF15","MBD5","MECP2","NEXMIF","NTNG2","PDE2A","PGAP3","PUS7","RHOBTB2","SHANK3","SPTBN1","TRAPPC9","VPS13A","ZBTB18","ZEB2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NEVUS":{"collection":"C5:HPO","systematicName":"M36407","pmid":"","exactSource":"HP:0003764","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003764","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEVUS","geneSymbols":["ACD","ACTB","AKT1","ALX4","ARL6IP6","ASXL1","ASXL2","BAP1","BAZ1B","BCL7B","BLOC1S5","BRAF","BUD23","CAMK2A","CBL","CDC42","CDH11","CDH3","CDK10","CDK13","CDK4","CDKN1C","CDKN2A","CDKN2B","CHRNA7","CHRNG","CLIP2","COL3A1","COL7A1","CYP1B1","CYP26C1","DDB2","DIS3L2","DNAJC30","DUT","DVL1","DVL3","EDEM3","EED","EIF4H","ELN","ERCC2","ERCC3","ERCC4","ERCC5","ERF","EZH2","FBN1","FGFR1","FGFR2","FGFR3","FKBP10","FKBP6","FOCAD","FRA10AC1","FZD2","GNA11","GNAQ","GTF2I","GTF2IRD1","GTF2IRD2","H1-4","H19","H4C5","HDAC8","HEATR3","HEPACAM","HEXB","HPS1","HRAS","IFNG","IGF2","KANSL1","KCNQ1","KCNQ1OT1","KLLN","KRAS","KRT14","LBR","LEMD3","LIMK1","LTBP2","LZTR1","MAD1L1","MC1R","MED25","METTL27","MGMT","MITF","MLXIPL","MPL","MRAS","MSL3","MYH3","MYOC","NCF1","NEK9","NFIX","NRAS","NSDHL","NXN","OCA2","PCGF2","PDE11A","PDE4D","PIK3CA","PLP1","POT1","PRKAR1A","PTCH1","PTCH2","PTEN","PTPN11","PUF60","PUS3","RAD51","RAF1","RASA2","RBM28","RBM8A","RFC2","RIT1","ROR2","RRAS","RRAS2","SDHB","SDHC","SDHD","SEC23B","SETBP1","SLC25A24","SLC26A2","SLC45A2","SMC3","SMO","SOS1","SOS2","SPRED2","SPTBN1","STK11","STX1A","SUFU","SUZ12","TASP1","TBL2","TEK","TERF2IP","TERT","TGFB3","THPO","TMEM270","TNFRSF11A","TNFRSF11B","TP63","TRIM37","TSC1","TSC2","TYR","TYRP1","USF3","VPS37D","WNT5A","XPA","XPC"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PSORIASIFORM_DERMATITIS":{"collection":"C5:HPO","systematicName":"M36408","pmid":"","exactSource":"HP:0003765","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003765","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PSORIASIFORM_DERMATITIS","geneSymbols":["ADAM17","AP1S3","BCL11B","CACNA1G","CARD14","CTLA4","DSG1","EGFR","FLI1","FOXP3","GATA3","GJB2","GJB6","HLA-B","HLA-C","HLA-DQB1","HLA-DRB1","IGHG2","IGKC","IL2RA","IL36RN","IRF2BP2","KNSTRN","LIG4","MSMO1","NFKB2","PI4KA","PIK3CD","SLC29A3","TP63","TTC7A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PERIODIC_PARALYSIS":{"collection":"C5:HPO","systematicName":"M36409","pmid":"","exactSource":"HP:0003768","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003768","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERIODIC_PARALYSIS","geneSymbols":["ABCB6","CA2","CACNA1S","CDH23","FAH","GABRA3","KCNE3","KCNJ18","KCNJ2","KCNJ5","SCN4A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PULP_CALCIFICATION":{"collection":"C5:HPO","systematicName":"M41290","pmid":"","exactSource":"HP:0003771","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003771","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PULP_CALCIFICATION","geneSymbols":["COL1A1","COL5A1","COL5A2","DSPP","FAM20A","FGF3","GALNT3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_STAGE_5_CHRONIC_KIDNEY_DISEASE":{"collection":"C5:HPO","systematicName":"M36410","pmid":"","exactSource":"HP:0003774","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003774","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_STAGE_5_CHRONIC_KIDNEY_DISEASE","geneSymbols":["ACTN4","AGXT","AHI1","ALG5","ALG9","ALMS1","ANKFY1","ANKS6","ANLN","APOL1","APRT","ARHGAP24","ARHGDIA","AVIL","BBIP1","BICC1","BNC2","BSND","C3","CC2D2A","CD151","CD2AP","CD81","CEP164","CEP290","CEP83","CFHR5","CLCN5","CLCNKA","CLCNKB","CLDN19","COL4A3","COL4A4","COL4A5","COL4A6","COQ6","COQ8B","CPT2","CRB2","CTNS","DAAM2","DCDC2","DGKE","DNAJB11","DSTYK","DZIP1L","EHHADH","EMP2","FAN1","FN1","GANAB","GAPVD1","GATM","GLIS2","GON7","GSN","HNF1B","IFNG","IFT122","IFT140","IFT43","INF2","INVS","IQCB1","JAG1","LAGE3","LAMA5","LAMB2","LMX1B","LZTFL1","MAFB","MAGI2","MAPKBP1","MEFV","MMUT","MUC1","MYO1E","MYOCD","NDUFAF6","NEK8","NOD2","NOS1AP","NPHP1","NPHP3","NPHP4","NPHS1","NPHS2","NUP107","NUP133","NUP160","NUP205","NUP37","NUP85","NUP93","OCRL","OSGEP","PAX2","PKD1","PKD2","PKHD1","PLCE1","PRKCD","PTPRO","RAD51C","RNU7-1","ROBO1","RPGRIP1L","RRM2B","SDCCAG8","SGPL1","SLC34A1","SLC37A4","SLC41A1","SLC7A7","SMARCAL1","SPRY2","SRCAP","TBC1D8B","TMEM126B","TMEM231","TMEM67","TP53RK","TPRKB","TRAF3IP1","TRPC6","TSC1","TSC2","TTC21B","TTC26","WDR19","WT1","XPNPEP3","YRDC","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PILI_TORTI":{"collection":"C5:HPO","systematicName":"M36411","pmid":"","exactSource":"HP:0003777","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003777","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PILI_TORTI","geneSymbols":["ATP7A","BCS1L","CDH3","DSG4","ERCC2","HEPHL1","KRT85","LMNA","NECTIN1","NECTIN4","PEX1","PEX6","ST14","WRN"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_EXCESSIVE_SALIVATION":{"collection":"C5:HPO","systematicName":"M36412","pmid":"","exactSource":"HP:0003781","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003781","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EXCESSIVE_SALIVATION","geneSymbols":["ADGRG1","ALS2","ANKLE2","ANXA11","AP4B1","AP4E1","AP4M1","AP4S1","ARX","ATP10A","ATP1A3","ATP6AP2","ATP7B","ATRX","BCORL1","CACNA1I","CAMTA1","CERT1","CHAMP1","CLDN11","DEAF1","DLAT","DLK1","DNM1L","EIF2S3","EXTL3","FBLN1","FBXO28","FOXG1","FOXP1","FOXP2","GABBR2","GABRA1","GABRG2","GCH1","GFM2","GNS","GPT2","GRIK2","GRIN2A","GRIN2D","HDAC4","HERC1","HIVEP2","HLA-B","HNRNPH2","HPDL","IKZF1","KCNC2","KIF15","KIF7","LMNB2","LNPK","MBD5","MECP2","MED12","MED27","MEG3","MRE11","MTHFS","NAA20","NALCN","NAXD","NEXMIF","NFIX","NONO","NRXN1","NTNG2","OCA2","PAK3","PCDH19","PCGF2","PDE10A","PI4KA","PIGL","PLA2G6","PMP22","POLR3A","POLR3B","POU3F3","PRPS1","PTS","QDPR","RAB11B","RSRC1","RTL1","SATB1","SATB2","SCN1A","SCN1B","SCN2A","SCN9A","SETD5","SH3TC2","SHMT2","SLC12A5","SLC16A2","SLC1A4","SLC25A12","SLC9A6","SLC9A7","SMARCA2","SNRPN","SPART","SPEN","SPTBN1","SRPX2","STRADA","SYNGAP1","TANGO2","TASP1","TBX1","TH","TSPOAP1","TUBB2B","UBE3A","VAC14","VPS13A","ZBTB11","ZC4H2","ZEB2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_EUNUCHOID_HABITUS":{"collection":"C5:HPO","systematicName":"M36413","pmid":"","exactSource":"HP:0003782","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003782","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EUNUCHOID_HABITUS","geneSymbols":["ANOS1","CHD7","CYP19A1","DUSP6","ESR2","FGF17","FGF8","FGFR1","GNRH1","GNRHR","HS6ST1","KISS1","KISS1R","NHLH2","NSMF","PROK2","PROKR2","SPRY4","TAC3","TACR3","TUBB4A","WDR11"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MINICORE_MYOPATHY":{"collection":"C5:HPO","systematicName":"M36415","pmid":"","exactSource":"HP:0003789","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003789","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MINICORE_MYOPATHY","geneSymbols":["CFL2","FXR1","MEGF10","MYH7","RYR1","SELENON","TNNT1","TRIP4","TTN"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DEPOSITS_IMMUNOREACTIVE_TO_BETA_AMYLOID_PROTEIN":{"collection":"C5:HPO","systematicName":"M36416","pmid":"","exactSource":"HP:0003791","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003791","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEPOSITS_IMMUNOREACTIVE_TO_BETA_AMYLOID_PROTEIN","geneSymbols":["ABCA7","APP","DYSF","GNE","PSEN1","PSEN2","SORL1","TOMM40","TREM2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SHORT_MIDDLE_PHALANX_OF_TOE":{"collection":"C5:HPO","systematicName":"M36417","pmid":"","exactSource":"HP:0003795","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003795","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_MIDDLE_PHALANX_OF_TOE","geneSymbols":["FGFR1","FGFR2","FGFR3","HOXD13","TRPV4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_IRREGULAR_ILIAC_CREST":{"collection":"C5:HPO","systematicName":"M43290","pmid":"","exactSource":"HP:0003796","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003796","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IRREGULAR_ILIAC_CREST","geneSymbols":["COL2A1","DYM","GPX4","IDH1","LMX1B","PAM16"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LIMB_GIRDLE_MUSCLE_ATROPHY":{"collection":"C5:HPO","systematicName":"M36418","pmid":"","exactSource":"HP:0003797","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003797","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIMB_GIRDLE_MUSCLE_ATROPHY","geneSymbols":["ACTA1","ACTB","ANO5","CAPN3","CRPPA","DAG1","DES","DGUOK","DPM3","EMD","FHL1","FKRP","FKTN","FRG1","GNE","GYG1","HNRNPA1","HNRNPDL","LMNA","MORC2","MYH7","POGLUT1","POMT1","POMT2","SGCA","SGCB","SMN1","SMN2","SYNE1","SYNE2","TMEM43","TPM3","TRAPPC11","TRIM32","TRPV4","UNC45B","VCP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NEMALINE_BODIES":{"collection":"C5:HPO","systematicName":"M36419","pmid":"","exactSource":"HP:0003798","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003798","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEMALINE_BODIES","geneSymbols":["ACTA1","CFL2","COX11","KBTBD13","KLHL40","KLHL41","KY","LMOD3","MYO18B","MYPN","NDUFB3","NEB","NEFL","PYROXD1","RYR1","RYR3","TNNT1","TPM2","TPM3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MUSCLE_ABNORMALITY_RELATED_TO_MITOCHONDRIAL_DYSFUNCTION":{"collection":"C5:HPO","systematicName":"M36420","pmid":"","exactSource":"HP:0003800","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003800","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MUSCLE_ABNORMALITY_RELATED_TO_MITOCHONDRIAL_DYSFUNCTION","geneSymbols":["AARS2","AGK","ATP5F1A","BRAT1","CAV3","COA3","COA8","COX10","COX6A2","COX6B1","DGUOK","DNA2","ETHE1","FARS2","FDX2","FOXRED1","GTPBP3","ISCU","LIG3","LRPPRC","MGME1","MIEF2","MRPL44","MSTO1","MT-ATP6","MT-CO1","MT-CO2","MT-CO3","MT-CYB","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND5","MT-ND6","MT-TC","MT-TE","MT-TF","MT-TK","MT-TL1","MT-TL2","MT-TN","MT-TQ","MT-TS1","MT-TS2","MT-TT","MT-TV","MT-TW","NDUFA1","NDUFA11","NDUFA4","NDUFA6","NDUFAF1","NDUFAF2","NDUFAF3","NDUFAF4","NDUFAF5","NDUFAF8","NDUFB10","NDUFB11","NDUFB3","NDUFB9","NDUFS1","NDUFS2","NDUFS3","NDUFS4","NDUFS6","NDUFS7","NDUFS8","NDUFV1","NDUFV2","NUBPL","OPA1","PNPLA8","PNPT1","POLG","POLG2","PUS1","RNASEH1","RRM2B","SLC25A10","SLC25A4","SLC25A42","SUCLG1","SURF1","TACO1","TFAM","TIMMDC1","TK2","TMEM126B","TOP3A","TRMT5","TRMU","TWNK","TYMP","YARS2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_TYPE_1_MUSCLE_FIBER_PREDOMINANCE":{"collection":"C5:HPO","systematicName":"M46091","pmid":"","exactSource":"HP:0003803","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003803","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TYPE_1_MUSCLE_FIBER_PREDOMINANCE","geneSymbols":["ACTA1","ACTN2","AGRN","AGTPBP1","AK9","ALG14","ALG2","BIN1","CAV3","CCDC78","CFL2","CHRNA1","CHRNB1","CHRND","CHRNE","COL13A1","COL6A1","COL6A2","COL6A3","COLQ","DNM2","DOK7","DPAGT1","FKBP14","FXR1","GARS1","GDAP1","GFPT1","GMPPB","GYG1","KBTBD13","KCNA1","KLHL40","KLHL41","LAMB2","LMOD3","LRP4","MAP3K20","MB","MTMR14","MUSK","MYF6","MYH2","MYH7","MYL1","MYPN","NEB","PNPT1","POMT1","RAPSN","RYR1","RYR3","SCN4A","SELENON","SGCG","SLC25A12","SMN1","SPEG","STIM1","TNNC2","TNNT1","TPM2","TPM3","TTN","UNC45B","VCP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RIMMED_VACUOLES":{"collection":"C5:HPO","systematicName":"M36422","pmid":"","exactSource":"HP:0003805","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003805","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RIMMED_VACUOLES","geneSymbols":["ACTA1","ACTN2","ADSS1","ANXA11","CHCHD10","COL12A1","COL6A1","COL6A2","COL6A3","DES","DNAJB6","DPM3","DYSF","EMD","FHL1","GGPS1","GIPC1","GNE","HNRNPA1","HNRNPA2B1","HNRNPDL","LMNA","LRP12","MAP3K20","MATR3","MEGF10","MYH7","NEB","NEFH","NOTCH2NLC","PABPN1","PLIN4","PNPLA2","RILPL1","SIL1","SMN1","SMPX","SQSTM1","SYNE1","SYNE2","TCAP","TIA1","TMEM43","TNPO3","TTN","VCP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NEONATAL_DEATH":{"collection":"C5:HPO","systematicName":"M36423","pmid":"","exactSource":"HP:0003811","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003811","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEONATAL_DEATH","geneSymbols":["AARS2","ABCA12","ABCA3","ACTA1","ADCY6","ALG8","AP1S1","ATAD3A","ATP1A2","ATP5F1A","BCS1L","CDK5","CEP55","CNOT1","CNTNAP1","CRLS1","CTSD","DONSON","DSP","EDNRB","ETFA","ETFB","ETFDH","FAM20C","FANCB","FGA","FGB","FGFR3","FGG","FLNB","FOXF1","GAD1","GATC","GBA1","GET3","GLE1","GLI3","GLUL","GPHN","HADHB","HSPG2","HTRA2","IL6ST","INTU","ITGA6","JAM3","LBR","LMOD1","LMOD2","LMOD3","MBTPS2","MDFIC","MOCS2","MRPS16","NDUFAF4","NDUFB10","NDUFB11","NDUFS6","NEB","NFU1","NPHP3","NUP88","PAICS","PET100","PEX10","PEX14","PHGDH","PIP5K1C","PKHD1","PLEC","PPFIBP1","QRSL1","RAD51C","RARB","RBM10","RMND1","SCN4A","SDHD","SFTPB","SLC25A24","SLC25A4","STRA6","SUCLG1","TARS2","TBXT","THSD1","TMEM70","TTC26","WT1","ZIC3","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DEATH_IN_CHILDHOOD":{"collection":"C5:HPO","systematicName":"M36425","pmid":"","exactSource":"HP:0003819","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003819","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEATH_IN_CHILDHOOD","geneSymbols":["AARS2","ABAT","ABCB11","ACAD9","ACTA1","ACTL6B","ADCY5","ALG11","AP1S1","ARHGEF9","ATG7","ATP1A2","ATP5MK","ATP7A","ATPAF2","C18orf32","C2orf69","CAD","CAMSAP1","CD3G","CLCN3","COX5A","CRPPA","DLD","DPH1","DTYMK","EFL1","ELAC2","ELOVL4","ERCC1","ERCC2","ERCC6","EXOSC8","FADD","FARS2","FCHO1","FGA","FGB","FGG","FKRP","FTO","GAD1","GFAP","GFM2","GNPTAB","HEXB","HMGCL","JPH2","KARS1","KRT5","LAMA3","LAMB2","LAT","LTBP4","LYRM7","MADD","MBTPS2","MFF","MFSD2A","MPI","MRM2","MRPL3","MT-TN","MT-TS1","MTX2","NADK2","NAXD","NAXE","NDUFB8","NDUFS7","NDUFV1","NEB","NFIX","NHLRC2","NPC2","NUP214","OAS1","OGDH","PAM16","PET100","PEX1","PEX2","PEX5","PIGY","PLCB3","PMM2","POT1","PPCS","PQBP1","PRPS1","PTPRC","RAB27A","RARS2","RINT1","RMND1","RNASEH2A","RNASEH2C","RNU4ATAC","SCN1B","SCYL2","SEC31A","SERPINH1","SLC17A5","SLC25A22","SLC33A1","SLC52A3","SMARCD2","SMN1","SNAP29","STT3B","SUCLG1","SURF1","TIMMDC1","TK2","TMEM70","TNFRSF11A","TPP2","TSEN2","TSEN54","TSFM","TTC7A","UBR1","VPS33A","VPS50","WT1","ZNFX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_STILLBIRTH":{"collection":"C5:HPO","systematicName":"M36426","pmid":"","exactSource":"HP:0003826","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003826","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_STILLBIRTH","geneSymbols":["ALPL","CALCRL","CENPF","CEP120","CEP55","COL11A1","COL2A1","ESCO2","FLNA","FLNB","GBA1","GDF5","GRIP1","HYLS1","IL6ST","LBR","LGI4","MUSK","NEK8","NSDHL","OSTM1","PHGDH","PITX1","POR","PTH1R","RMND1","RNU4ATAC","SLC26A2","SLC35D1","TRIP11","WT1","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_VARIABLE_EXPRESSIVITY":{"collection":"C5:HPO","systematicName":"M47084","pmid":"","exactSource":"HP:0003828","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003828","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VARIABLE_EXPRESSIVITY","geneSymbols":["ADD3","ATL1","CANT1","CD3E","CDON","CHRNE","COL6A1","COL6A2","COL6A3","DARS2","DEGS1","DHDDS","DLX5","DPM1","EIF2S3","EYA1","F2","FBXO38","FGFR2","FIG4","FKRP","GABRB2","GATA1","GFPT1","GJB6","GLE1","GLI2","GLI3","HARS1","HDAC8","KCNA1","KIF11","KRT81","KRT83","KRT86","LAMA1","MCM2","MFN2","MPC1","MT-CO1","MT-CO2","MT-CO3","MT-CYB","MT-ND1","MT-ND5","MT-ND6","MT-TC","MT-TF","MT-TK","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TV","MT-TW","NAA10","NEFH","NIPA1","NUP107","PAX3","PDHX","PEX2","PIGH","PIGN","PITX2","PLAA","PLIN4","PMP22","PNPLA2","PRDM8","PRPS1","QDPR","RNASEH2B","RTEL1","SAMD9L","SCN1A","SETX","SHH","SLC25A26","SLC25A46","SLC2A1","SLC52A2","SLC5A2","SPAST","SPR","STIM1","SURF1","TBCK","TENM4","TH","TMEM126A","TNFRSF11B","TPM3","TWIST1","VWF"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_TYPIFIED_BY_INCOMPLETE_PENETRANCE":{"collection":"C5:HPO","systematicName":"M36428","pmid":"","exactSource":"HP:0003829","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003829","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TYPIFIED_BY_INCOMPLETE_PENETRANCE","geneSymbols":["ACTN4","ANO3","ATL1","ATP1A2","ATP1A3","ATXN10","BMPR2","BRCA2","CACNA1A","CACNA1S","CACNB4","CAV1","CDH23","CFC1","CHRNA2","CHRNA4","CHRNA7","CILK1","CLCN2","COL4A1","COL4A2","CPOX","CRELD1","CTLA4","CTNNB1","DCC","DCX","DDX41","DEPDC5","DLST","DLX5","DSTYK","ELOVL4","ELP1","EPHB4","ERBB3","EYA1","FGF23","FGFR1","FH","FLCN","FMR1","FOXE3","GABRB3","GABRG2","GATA5","GJA5","GJA8","GJB1","GJC2","GLI2","GPR161","GREB1L","GRIN2A","HCN1","HNRNPDL","IFIH1","IKZF1","INAVA","JAG1","KIF11","KIF1B","KIF5A","KLF13","KMT2B","KRIT1","LRP5","LRRK2","LRSAM1","LZTR1","MET","MFN2","MN1","MNX1","MSH6","MT-ATP6","MT-CO3","MT-CYB","MT-ND1","MT-ND2","MT-ND4","MT-ND4L","MT-ND5","MT-ND6","NF2","NLRP12","NPRL2","NPRL3","NR5A1","NRIP1","NRL","OPA1","OTULIN","PARN","PAX2","PDGFB","PITX1","PKD2","POT1","PRCC","PRKCG","PROK2","PROKR2","PRPF31","PRPF8","PRRT2","PTCH1","PTCH2","PTEN","PUM1","RAD51","RANBP2","RBM12","RELN","RORB","RPS29","RTEL1","SCN1B","SCN4A","SDHB","SGCE","SHH","SIX1","SIX3","SLC12A5","SLC2A1","SMAD6","SMAD9","SMARCB1","SMARCC1","SMARCE1","STAT1","SUFU","TBK1","TENM4","TERC","TERT","THAP1","TICAM1","TLR3","TM4SF20","TMEM151A","TOR1A","TRPV4","TTN","UCHL1","USP48","VMA21","VWF","WNT10B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SHOULDER_DISLOCATION":{"collection":"C5:HPO","systematicName":"M36429","pmid":"","exactSource":"HP:0003834","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003834","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHOULDER_DISLOCATION","geneSymbols":["AEBP1","ARF1","ARFGEF2","B3GAT3","CHST3","COL1A1","COL1A2","COL5A1","COL5A2","ERMARD","FLNA","LMNA","MAP1B","NEDD4L","NGLY1","SALL4","TMTC3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_UPPER_LIMB_EPIPHYSIS_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M36430","pmid":"","exactSource":"HP:0003839","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003839","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_UPPER_LIMB_EPIPHYSIS_MORPHOLOGY","geneSymbols":["ARSL","ATR","BGN","BMPR1B","BPNT2","COG4","COL2A1","COL9A1","COL9A2","COL9A3","COMP","CPLX1","CTBP1","DYM","EIF2AK3","ERCC6","ERCC8","EVC","EVC2","EXT1","FGFR3","FGFRL1","FLNA","FLNB","GDF5","GNPAT","GPX4","IFIH1","IFT140","IFT172","IFT52","IHH","KCNH1","KIF15","LETM1","MATN3","MGP","MIA3","MRPS28","NEK1","NKX3-2","NPR2","NPR3","NSD2","PCNT","POR","PRKAR1A","RAB23","RAD21","RMRP","RPS6KA3","RUNX2","SALL1","SLC26A2","SRCAP","TONSL","TRAPPC2","TRIP11","TRPS1","TRPV4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BOWED_HUMERUS":{"collection":"C5:HPO","systematicName":"M45410","pmid":"","exactSource":"HP:0003865","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003865","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BOWED_HUMERUS","geneSymbols":["B3GALT6","FLNB","KIAA0753","LAMA5","LBR","RNU4ATAC","RSPO2","SPARC"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SYNOSTOSIS_INVOLVING_THE_ELBOW":{"collection":"C5:HPO","systematicName":"M47085","pmid":"","exactSource":"HP:0003938","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003938","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SYNOSTOSIS_INVOLVING_THE_ELBOW","geneSymbols":["CYP26B1","DONSON","FGF9","FGFR1","FGFR2","GDF5","NOG","POR","PTDSS1","TBX15","WNT7A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BOWED_FOREARM_BONES":{"collection":"C5:HPO","systematicName":"M47086","pmid":"","exactSource":"HP:0003956","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003956","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BOWED_FOREARM_BONES","geneSymbols":["B2M","B3GALT6","CHST3","CILK1","COL11A1","COL2A1","FGF23","FGFR2","FGFR3","FLNA","FLNB","GDF5","GLI3","HOXA11","IFT43","IHH","LAMA5","LBR","MMP13","NPR2","P3H1","PCNT","POR","PRKG2","RBM8A","RECQL4","RIPK4","ROR2","SCARF2","SHOX","SLC26A2","TMEM67","TRPV4","VPS35L","WNT7A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABSENT_RADIUS":{"collection":"C5:HPO","systematicName":"M47087","pmid":"","exactSource":"HP:0003974","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003974","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_RADIUS","geneSymbols":["CHD7","CHN1","DONSON","ESCO2","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCL","FGFR2","FLNB","GLI3","LMBR1","MAFB","RBM8A","RECQL4","RIPK4","RPL26","SALL4","SF3B4","TBX3","TBX5","TRIO","XRCC2","ZIC3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APLASIA_OF_THE_ULNA":{"collection":"C5:HPO","systematicName":"M47088","pmid":"","exactSource":"HP:0003982","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003982","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_OF_THE_ULNA","geneSymbols":["ESCO2","LMBR1","TBX3","TBX5","WNT7A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_RADIAL_HEAD":{"collection":"C5:HPO","systematicName":"M36433","pmid":"","exactSource":"HP:0003995","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003995","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_RADIAL_HEAD","geneSymbols":["AFF3","ANAPC1","ARID1B","ASXL1","ATR","B3GALT6","B3GAT3","B4GALT7","BMP1","CD96","CDC45","CHRNG","CHST3","CLCN3","COL1A1","COL27A1","COL5A1","COL5A2","CREBBP","DONSON","DVL1","EP300","ERCC1","ESCO2","EXOC6B","EXTL3","FLNA","FZD2","GPC6","GSC","IFITM5","KIF22","L1CAM","LMX1B","MAP3K7","NIPBL","NOG","NOTCH2","PRKAR1A","RECQL4","RNU4ATAC","ROR2","SCARF2","SHOX","SKI","SLC39A13","SOX9","SRCAP","TBX15","WNT5A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_RADIAL_EPIPHYSES":{"collection":"C5:HPO","systematicName":"M41291","pmid":"","exactSource":"HP:0003999","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0003999","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_RADIAL_EPIPHYSES","geneSymbols":["BGN","COL9A1","COL9A2","COL9A3","IFIH1","SLC26A2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_ULNAR_METAPHYSIS_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M41292","pmid":"","exactSource":"HP:0004039","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004039","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ULNAR_METAPHYSIS_MORPHOLOGY","geneSymbols":["ANAPC1","COL10A1","COL2A1","COMP","MAGEL2","MMP13","MMP9","NDN","RECQL4","SNRPN"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABSENT_HAND":{"collection":"C5:HPO","systematicName":"M36434","pmid":"","exactSource":"HP:0004050","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004050","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_HAND","geneSymbols":["ARHGAP31","BTRC","DLL4","DLX5","DLX6","DOCK6","EOGT","EPS15L1","FBXW4","IKBKG","LMBR1","NOTCH1","PLXND1","RBPJ","REV3L","SEM1","TBX3","TP63","WNT10B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SCLEROSIS_OF_HAND_BONE":{"collection":"C5:HPO","systematicName":"M36435","pmid":"","exactSource":"HP:0004054","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004054","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SCLEROSIS_OF_HAND_BONE","geneSymbols":["EBP","EIF2AK3","ERCC6","ERCC8","GJA1","LEMD3","LMNA","NGLY1","SLC34A2","SRCAP","TONSL","TRPS1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MITTEN_DEFORMITY":{"collection":"C5:HPO","systematicName":"M36436","pmid":"","exactSource":"HP:0004057","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004057","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MITTEN_DEFORMITY","geneSymbols":["COL17A1","COL7A1","DSP","ITGB4","KRT5","LAMA3","LAMB3","LAMC2","MMP1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MACRODACTYLY":{"collection":"C5:HPO","systematicName":"M36437","pmid":"","exactSource":"HP:0004099","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004099","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MACRODACTYLY","geneSymbols":["AIP","AKT1","GPR101","PIK3CA","PTEN"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_2ND_FINGER_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M36438","pmid":"","exactSource":"HP:0004100","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004100","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_2ND_FINGER_MORPHOLOGY","geneSymbols":["ANKRD11","BHLHA9","BMP2","BMPR1B","CANT1","CHSY1","COL1A1","COL2A1","CSGALNACT1","FGFR2","FIG4","FLNA","FOXP2","GDF5","GPC3","GPC4","HNRNPR","HOXA13","HOXD13","IFT140","IHH","INTU","IRX5","KIF15","KNSTRN","LFNG","MED12","MED25","MEIS2","MYCN","NEDD4L","NSDHL","OPA3","PIK3CD","PLOD3","PTRH2","RPL10","RUNX2","SRCAP","TGDS","TWIST1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MIDLINE_DEFECT_OF_THE_NOSE":{"collection":"C5:HPO","systematicName":"M36439","pmid":"","exactSource":"HP:0004122","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004122","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MIDLINE_DEFECT_OF_THE_NOSE","geneSymbols":["ALX1","ALX3","ALX4","EFNB1","FRAS1","FREM1","FREM2","GRIP1","HYLS1","LONP1","NF1","NSMF","NUAK2","PTCH1","TBX4","TFE3","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_3RD_FINGER_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M36440","pmid":"","exactSource":"HP:0004150","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004150","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_3RD_FINGER_MORPHOLOGY","geneSymbols":["CHSY1","COL1A1","COL2A1","DLK1","EN1","FGFR2","GDF5","GLI3","GNAS","IHH","KNSTRN","MED25","MEG3","NEDD4L","NSDHL","PIK3CD","PKDCC","PLOD3","PTRH2","RTL1","SLC26A2","SMC1A","TBX2","TBX3","TWIST1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_4TH_FINGER_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M36441","pmid":"","exactSource":"HP:0004188","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004188","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_4TH_FINGER_MORPHOLOGY","geneSymbols":["ABCC8","ASXL3","COL11A1","COL2A1","FBXW11","GDF5","GLI3","IHH","KCNJ11","KDM5B","KNSTRN","MECOM","NARS2","NOG","PIK3CD","SIN3A","SNRPN","TBX2","TBX3","TLK2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_5TH_FINGER_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M36442","pmid":"","exactSource":"HP:0004207","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004207","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_5TH_FINGER_MORPHOLOGY","geneSymbols":["ABL1","ACVR1","ADNP","AFF2","AGO2","AKT1","AKT3","ALDH1A2","ALG12","ALX3","AMER1","AMMECR1","ANKRD11","AP1G1","ARID1A","ARID1B","ARID2","ARL6","ARMC9","ARPC4","ATG7","ATP2B1","ATP6V1B2","ATR","ATRIP","ATRX","AUTS2","B3GLCT","B9D1","B9D2","BAZ1B","BBIP1","BBS1","BBS10","BBS12","BBS2","BBS4","BBS5","BBS7","BBS9","BCL7B","BCOR","BCR","BHLHA9","BLM","BMP2","BMP4","BMPR1B","BPTF","BRAF","BRAT1","BRCA1","BRCA2","BRD4","BRF1","BRIP1","BUB1","BUB1B","BUB3","BUD23","C2CD3","CANT1","CASZ1","CBL","CC2D2A","CCDC22","CCDC28B","CCDC32","CCDC47","CCDC8","CCND2","CCNK","CCNQ","CD96","CDC45","CDC6","CDH11","CDKN1C","CDT1","CENPE","CENPJ","CEP120","CEP152","CEP19","CEP290","CEP55","CEP57","CFAP418","CHD7","CHRNA7","CHST3","CHSY1","CIBAR1","CITED2","CKAP2L","CLCN3","CLIP2","CNOT2","CNOT3","COL11A1","COL27A1","COL2A1","COX4I1","CPLANE1","CREBBP","CRKL","CSGALNACT1","CSNK2A1","CSPP1","CTCF","CUL4B","CUL7","DACT1","DDX11","DDX59","DEAF1","DHCR7","DHPS","DNA2","DNAJC30","DONSON","DPAGT1","DPF2","DSP","DVL1","DVL3","DYM","DYNC2H1","DYNC2I1","DYNC2I2","DYNC2LI1","DYNLT2B","EFNB1","EIF4A3","EIF4H","ELN","EMG1","EP300","ERCC4","ESCO2","EVC","EVC2","EXT2","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FBXW11","FGD1","FGF16","FGFR2","FGFR3","FKBP6","FLII","FLNA","FLNB","FLT4","FRA10AC1","FZD2","GABRD","GATA1","GATA4","GATA5","GATA6","GDF1","GDF5","GJA1","GJA5","GJA8","GLI2","GLI3","GMNN","GNAS","GNB2","GPC3","GPC4","GRB10","GTF2I","GTF2IRD1","GTF2IRD2","H19","H3-3B","H4C3","HDAC4","HDAC8","HIC1","HMGA2","HNRNPH1","HNRNPK","HNRNPR","HOXA11","HOXA13","HOXD13","HSPG2","HYLS1","IFT122","IFT140","IFT172","IFT27","IFT43","IFT52","IFT74","IFT80","IGF1","IGF2","IHH","INPP5E","IQCE","IQSEC2","IRX5","JAG1","JARID2","JUP","KAT6B","KAT8","KCNAB2","KCNJ2","KCNK4","KCTD1","KDM1A","KDM4B","KDM5B","KDM6A","KDM6B","KDR","KIAA0753","KIAA0825","KIF15","KIF7","KIFBP","KLF13","KMT2A","KMT2B","KMT2D","KPTN","KRAS","L1CAM","LBR","LEMD3","LIFR","LIG4","LIMK1","LMBR1","LMNB2","LMX1B","LTBP1","LUZP1","LZTFL1","LZTR1","MACROH2A1","MAD2L2","MAF","MAN1B1","MAP1B","MAPK1","MAPK8IP3","MAPRE2","MASP1","MBD5","MBTPS2","MECOM","MECP2","MEF2C","MEGF8","MEIS2","METTL27","MIA3","MITF","MKKS","MKS1","MLXIPL","MMP23B","MRAS","MYCN","MYL11","NAA10","NAA20","NCF1","NEDD4L","NEK1","NEXMIF","NFIX","NIN","NIPBL","NKX2-5","NKX2-6","NOG","NONO","NPHP1","NPR2","NRAS","NSD2","NSUN2","NUP37","NUP85","NXN","OBSL1","ODC1","OFD1","OGT","ORC1","ORC4","ORC6","OTUD5","PACS1","PACS2","PAFAH1B1","PAICS","PALB2","PCNT","PDE6D","PDPN","PHF21A","PHIP","PIEZO2","PIGH","PIGL","PIGN","PIGS","PIGY","PIK3C2A","PIK3R2","PITX1","PKDCC","PLAA","PLAG1","PLK4","PLXND1","PNPLA6","POLA1","PORCN","PPP2R1A","PQBP1","PRDM16","PRKACB","PRKCZ","PRR12","PTEN","PTH1R","PTPN11","PUF60","PYROXD1","QRICH1","RAB11B","RAB18","RAB23","RAC1","RAD21","RAD51","RAD51C","RAF1","RAI1","RASA2","RB1","RBBP8","RBM8A","RERE","REV3L","RFC2","RFWD3","RIT1","RNF216","RNU4ATAC","ROR2","RPGRIP1","RPGRIP1L","RPL10","RRAS","RRAS2","RSPRY1","RUNX2","SALL1","SATB2","SC5D","SCAPER","SCLT1","SCNM1","SDCCAG8","SEMA3E","SETBP1","SH3PXD2B","SHANK3","SHOX","SIAH1","SIK3","SIN3A","SKI","SLC29A3","SLC2A10","SLC9A7","SLX4","SMARCA2","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SMC1A","SMC3","SMO","SMOC1","SNRPB","SNRPN","SOS1","SOS2","SOX11","SOX4","SOX6","SPECC1L","SPEN","SPOP","SPRED1","SPRED2","SRCAP","STAG1","STAG2","STX1A","SUFU","TBC1D24","TBL2","TBX1","TBX15","TBX3","TBX4","TCF20","TCTN1","TCTN2","TCTN3","TELO2","TFAP2A","TFAP2B","TGDS","TGFBR1","TMCO1","TMEM107","TMEM147","TMEM216","TMEM218","TMEM231","TMEM237","TMEM270","TMEM67","TP63","TPR","TRAIP","TRAPPC9","TRIM32","TRIO","TRIP13","TRPM3","TRPS1","TRPV4","TRRAP","TTC21B","TTC8","TWIST1","TWIST2","TXNDC15","UBA2","UBE2T","UBE3A","UBE3B","UBE4B","UBR1","USP7","VPS13B","VPS37D","WDPCP","WDR11","WDR19","WDR35","WDR4","WIPI2","WNT5A","WNT7A","XRCC2","XRCC4","XYLT1","YWHAE","ZC4H2","ZDHHC9","ZFPM2","ZMYM2","ZNF141","ZNF292","ZNF462"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_5TH_FINGER_PHALANX_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M36443","pmid":"","exactSource":"HP:0004213","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004213","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_5TH_FINGER_PHALANX_MORPHOLOGY","geneSymbols":["ARID1B","ATP6V1B2","BHLHA9","BMP2","BMPR1B","COL2A1","DVL1","GATA1","GDF5","GJA1","GNB2","HNRNPR","HOXD13","IFT140","IGF2","KIF15","MYCN","NIN","NOG","NPR2","PUF60","RBBP8","ROR2","RUNX2","SMARCB1","SRCAP","TFAP2B","WNT5A","ZNF141"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SYMPHALANGISM_OF_THE_5TH_FINGER":{"collection":"C5:HPO","systematicName":"M46092","pmid":"","exactSource":"HP:0004218","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004218","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SYMPHALANGISM_OF_THE_5TH_FINGER","geneSymbols":["BHLHA9","GDF5","NOG","ROR2","TFAP2B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_MIDDLE_PHALANX_OF_THE_5TH_FINGER":{"collection":"C5:HPO","systematicName":"M36444","pmid":"","exactSource":"HP:0004219","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004219","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_MIDDLE_PHALANX_OF_THE_5TH_FINGER","geneSymbols":["ATP6V1B2","BHLHA9","BMP2","BMPR1B","DVL1","GATA1","GDF5","GJA1","GNB2","HOXD13","IFT140","IGF2","MYCN","NIN","NOG","PUF60","RBBP8","ROR2","RUNX2","SRCAP","TFAP2B","WNT5A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SHORT_MIDDLE_PHALANX_OF_THE_5TH_FINGER":{"collection":"C5:HPO","systematicName":"M47089","pmid":"","exactSource":"HP:0004220","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004220","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_MIDDLE_PHALANX_OF_THE_5TH_FINGER","geneSymbols":["BMP2","BMPR1B","DVL1","GATA1","GDF5","GJA1","GNB2","HOXD13","IGF2","MYCN","NIN","NOG","PUF60","RBBP8","ROR2","RUNX2","SRCAP","TFAP2B","WNT5A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_DISTAL_PHALANX_OF_THE_5TH_FINGER":{"collection":"C5:HPO","systematicName":"M36445","pmid":"","exactSource":"HP:0004225","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004225","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_DISTAL_PHALANX_OF_THE_5TH_FINGER","geneSymbols":["ARID1B","COL2A1","GJA1","HNRNPR","IGF2","NPR2","SMARCB1","TFAP2B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SHORT_DISTAL_PHALANX_OF_THE_5TH_FINGER":{"collection":"C5:HPO","systematicName":"M46093","pmid":"","exactSource":"HP:0004227","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004227","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_DISTAL_PHALANX_OF_THE_5TH_FINGER","geneSymbols":["ARID1B","COL2A1","HNRNPR","IGF2","SMARCB1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ADVANCED_OSSIFICATION_OF_CARPAL_BONES":{"collection":"C5:HPO","systematicName":"M36446","pmid":"","exactSource":"HP:0004233","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004233","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ADVANCED_OSSIFICATION_OF_CARPAL_BONES","geneSymbols":["B3GALT6","CANT1","NANS","PDE4D","PTH1R","SETD2","SLC10A7","SLC35B2","SLC35D1","XYLT1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_CAPITATE_BONE":{"collection":"C5:HPO","systematicName":"M47090","pmid":"","exactSource":"HP:0004262","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004262","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_CAPITATE_BONE","geneSymbols":["ATP7A","BPNT2","DYNC2LI1","EVC","EVC2","FGFR3","FLNA","FLNB","GLI1","PRKACA","PRKACB","SMOC1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_OSTEOARTHRITIS_OF_THE_SMALL_JOINTS_OF_THE_HAND":{"collection":"C5:HPO","systematicName":"M43291","pmid":"","exactSource":"HP:0004268","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004268","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OSTEOARTHRITIS_OF_THE_SMALL_JOINTS_OF_THE_HAND","geneSymbols":["ASPN","MATN3","SMAD3","TRAPPC2","TRPV4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DUPLICATION_OF_HAND_BONES":{"collection":"C5:HPO","systematicName":"M36447","pmid":"","exactSource":"HP:0004275","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004275","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DUPLICATION_OF_HAND_BONES","geneSymbols":["ABCA12","ACOX1","ACTB","ACTG1","ADA2","AHI1","AKT3","ALX3","ARL13B","ARL3","ARL6","ARMC9","ARVCF","B9D1","B9D2","BBIP1","BBS1","BBS10","BBS12","BBS2","BBS4","BBS5","BBS7","BBS9","BCOR","BHLHA9","BLM","BMPR1B","C2CD3","CANT1","CBY1","CC2D2A","CCDC22","CCDC28B","CCND2","CD96","CDC45","CEP104","CEP120","CEP19","CEP290","CEP41","CFAP418","CHD7","CHN1","CHSY1","CIBAR1","COMT","CPLANE1","CPLX1","CSPP1","CTBP1","DACT1","DDX59","DEAF1","DHCR7","DPYSL5","DVL1","DYNC2H1","DYNC2I1","DYNC2I2","DYNC2LI1","DYNLT2B","EBP","EFNB1","EFTUD2","ESCO2","EVC","EVC2","EXTL3","FAM149B1","FANCA","FANCB","FANCC","FANCD2","FANCE","FGF10","FGFR2","FGFR3","FGFRL1","FLI1","FLII","FLNA","FLNB","GATA1","GDF5","GJA1","GJA5","GJA8","GLI1","GLI2","GLI3","GP1BB","GPC3","GPC4","HEATR3","HEPACAM","HESX1","HIRA","HOXA13","HOXD13","HYLS1","IFT140","IFT172","IFT27","IFT74","IFT80","INPP5E","INTU","IQCE","IQSEC2","JMJD1C","KATNIP","KIAA0586","KIAA0753","KIAA0825","KIF7","LBR","LEMD3","LETM1","LHX3","LHX4","LMBR1","LZTFL1","MAFB","MAP3K20","MBTPS2","MEGF8","MKKS","MKS1","NAA10","NEK1","NELFA","NPHP1","NSD2","NUP107","OFD1","OTUD5","PAH","PDE6D","PHF8","PIBF1","PIGG","PIK3CA","PIK3R2","PLAA","PNPLA6","PORCN","POU1F1","PPP2R3C","PRKACA","PRKACB","PROP1","PTEN","PUF60","RAB23","RAI1","RBM10","RNU4ATAC","ROR2","RPGRIP1","RPGRIP1L","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS7","RREB1","SALL1","SALL4","SC5D","SCAPER","SCLT1","SCNM1","SDCCAG8","SEC24C","SETBP1","SF3B2","SH2B1","SHH","SHMT2","SMO","SMOC1","SUFU","TBX1","TBX3","TBX5","TCTN1","TCTN2","TCTN3","TFAP2A","TFAP2B","TGFBR1","TMCO1","TMEM107","TMEM138","TMEM216","TMEM218","TMEM231","TMEM237","TMEM67","TOGARAM1","TOPORS","TRIM32","TSR2","TTC21B","TTC8","TWIST1","TXNDC15","UBE2T","UFD1","VPS35L","WASHC5","WDPCP","WDR19","WDR35","WNT5A","WNT7A","ZIC3","ZNF141","ZNF423","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SYNOSTOSIS_INVOLVING_BONES_OF_THE_HAND":{"collection":"C5:HPO","systematicName":"M36448","pmid":"","exactSource":"HP:0004278","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004278","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SYNOSTOSIS_INVOLVING_BONES_OF_THE_HAND","geneSymbols":["ANAPC1","APC","ATP7A","B3GALT6","BHLHA9","BMPR1B","BPNT2","CHSY1","COL27A1","DYNC2LI1","EIF4A3","ESCO2","EVC","EVC2","FBLN1","FGF16","FGF9","FGFR2","FGFR3","FLNA","FLNB","GDF5","GLI1","HOXA13","HOXD13","IHH","LMBR1","LRP4","MACROH2A1","MAP3K7","MYH3","NOG","NONO","NXN","PAX3","PITX1","POR","PQBP1","PRKACA","PRKACB","PTDSS1","RBM8A","RECQL4","ROR2","SALL4","SHH","SMOC1","TCF12","TFAP2B","TWIST1","ZIC1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SHORT_PALM":{"collection":"C5:HPO","systematicName":"M36449","pmid":"","exactSource":"HP:0004279","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004279","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_PALM","geneSymbols":["ADAMTSL2","ANKRD11","ANTXR2","ATP7A","B3GLCT","BCR","BGN","BHLHA9","CAMK2G","CAMTA1","CCBE1","CHSY1","COG4","COL11A1","COL11A2","COL2A1","COL9A2","CRKL","CRLF1","CUL4B","DDR2","DPM1","DVL1","DVL3","DYNC1H1","DYNC2H1","DYNC2I1","DYNC2I2","EVC","EVC2","FBN1","FGD1","FGF9","FGFR1","FGFR2","FGFR3","FLNA","FZD2","GATA1","GDF5","GPC3","GPC4","GPX4","HDAC4","HDAC6","HERC2","HNRNPR","IFT80","IGF1R","IHH","INPP5K","INPPL1","KAT6B","KCNJ2","KDM4B","KDM5C","KLHL15","KRAS","LMNA","LTBP3","MAGEL2","MAP3K7","MAPK1","MAPRE2","MBD5","MKRN3","MRPS28","MSL3","NOG","NPAP1","ORC1","PDGFRB","PIGL","PIK3R1","PPP2R3C","PRKAR1A","PTDSS1","PTH1R","PUF60","PWAR1","PWRN1","RAB3GAP2","RAI1","RBPJ","RECQL4","RMRP","RNU4ATAC","ROR2","RSPRY1","SCUBE3","SH3PXD2B","SIL1","SIN3A","SMAD4","SMARCA2","SNIP1","SNORD115-1","SNORD116-1","TBCE","TBL1XR1","TCF4","TMEM53","TONSL","TRIO","TRIP11","TRPS1","WAC","WDR35","WDR81","WNT5A","YY1AP1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NARROW_PALM":{"collection":"C5:HPO","systematicName":"M36450","pmid":"","exactSource":"HP:0004283","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004283","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NARROW_PALM","geneSymbols":["AUTS2","DPYSL5","GNB1","HERC2","KANSL1","KMT2B","MAGEL2","MKRN3","NDN","NPAP1","PWAR1","PWRN1","SMS","SNORD115-1","SNORD116-1","SNRPN","UBE3B","VPS13B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PSEUDOEPIPHYSES_OF_HAND_BONES":{"collection":"C5:HPO","systematicName":"M43292","pmid":"","exactSource":"HP:0004288","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004288","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PSEUDOEPIPHYSES_OF_HAND_BONES","geneSymbols":["BMPR1B","COG4","CPLX1","CTBP1","FGFRL1","GDF5","KCNH1","LETM1","NKX3-2","NPR3","NSD2","PCNT","RAB23","RPS6KA3","SALL1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_GASTRIC_MUCOSA_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M36451","pmid":"","exactSource":"HP:0004295","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004295","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_GASTRIC_MUCOSA_MORPHOLOGY","geneSymbols":["ABCC2","AIRE","ARID1B","BAZ1B","BCL7B","BUD23","CARD8","CASP10","CDH1","CISD2","CLIP2","CTLA4","DEF6","DNAJC30","EIF4H","ELF4","ELN","FAS","FASLG","FKBP6","FOCAD","FOXP3","GBA1","GTF2I","GTF2IRD1","GTF2IRD2","IFIH1","IGHG2","IGKC","IPO8","LBR","LIMK1","LRBA","METTL27","MLXIPL","NCF1","NFKB1","PLA2G4A","PRKCD","RASGRP1","RFC2","RIPK1","SKIC2","SKIC3","STX1A","SYK","TBL2","TMEM270","VPS37D","WFS1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_GASTROINTESTINAL_VASCULAR_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M47091","pmid":"","exactSource":"HP:0004296","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004296","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_GASTROINTESTINAL_VASCULAR_MORPHOLOGY","geneSymbols":["ACVRL1","CTC1","ENG","GLMN","VWF"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_BILIARY_SYSTEM":{"collection":"C5:HPO","systematicName":"M36452","pmid":"","exactSource":"HP:0004297","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004297","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_BILIARY_SYSTEM","geneSymbols":["ABCB11","ABCB4","ABCC2","ABCD1","ABCD3","ABCG8","ACADVL","ACVRL1","ADAMTS13","ADAR","ADK","AGR2","AIRE","AKR1D1","ALAS2","ALDOA","ALDOB","ALG6","ALG8","AMACR","ANK1","ANKS6","AP1B1","AP1S1","APC2","APOA1","ARG1","ARL13B","ARL6","ARSA","ARVCF","ASAH1","ASXL1","ATP11C","ATP6AP1","ATP6AP2","ATP7A","ATP7B","ATP8B1","B2M","B3GLCT","B9D2","BAAT","BAZ1B","BBS1","BCAP31","BCL7B","BCS1L","BLVRA","BMP6","BRCA1","BRCA2","BUD23","CA5A","CALR","CASK","CASR","CC2D2A","CCDC115","CCDC28B","CCDC47","CD40LG","CDAN1","CDIN1","CDKN1B","CDKN2A","CEP290","CEP83","CFTR","CIITA","CLDN1","CLIP2","CNOT1","COG6","COG7","COMT","COX4I2","CPA1","CPLX1","CPOX","CTBP1","CTCF","CTRC","CYP27A1","CYP7A1","CYP7B1","DCDC2","DEF6","DGUOK","DHCR7","DHFR","DMPK","DNAJC30","DNASE2","DPAGT1","DUOX2","DUOXA2","DZIP1L","EARS2","EIF2AK3","EIF4H","ELN","ENG","EPB41","EPB42","EPCAM","ERCC4","ESCO2","ETFA","ETFB","ETFDH","F5","FADD","FARSB","FCGR2A","FCGR3B","FECH","FGA","FGFRL1","FH","FKBP6","FLI1","FOCAD","FOXF1","FUCA1","G6PD","GALE","GALK1","GALM","GALT","GATA6","GBA1","GCGR","GCLC","GDF2","GFM1","GH1","GLIS3","GLRX5","GNAS","GNB2","GNE","GP1BB","GPI","GPR35","GTF2I","GTF2IRD1","GTF2IRD2","GYPC","HADHA","HADHB","HBB","HBG2","HESX1","HFE","HIRA","HK1","HMGCL","HNF1B","HOXD13","HSD17B4","HSD3B7","HTRA2","HYOU1","IARS1","IER3IP1","IFIH1","IFT122","IFT140","IFT172","IGHG2","IGKC","IL12A","IL12RB1","IL18BP","IL21R","IL2RG","IL36RN","INPP5E","INSR","INTU","IRF5","ITCH","IYD","JAG1","JAK2","JMJD1C","KCNN4","KDM5C","KIF12","KIF23","KIF3B","KMT2D","KMT2E","KRAS","KRT18","KYNU","LBR","LETM1","LHX3","LHX4","LIMK1","LIPA","LMBRD1","LMNA","LONP1","LPL","LSM11","LYST","LYZ","MARS1","MECP2","MED12","MED25","METTL27","MICOS13","MKS1","MLXIPL","MMACHC","MMEL1","MPV17","MST1","MYO5B","NAA10","NBAS","NCF1","NEK8","NELFA","NEUROG3","NKX2-5","NOTCH2","NPC1","NPC2","NPHP3","NR1H4","NSD1","NSD2","OCLN","PALB2","PALLD","PARS2","PAX8","PCSK1","PEPD","PERCC1","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PFKM","PGM1","PHKA2","PHKG2","PI4KA","PIEZO1","PIGA","PIGG","PKD2","PKHD1","PKLR","PNPLA2","POLG","POLG2","POMC","POU1F1","POU2AF1","PRF1","PRKAR1A","PROP1","PRPS1","PRSS1","PRSS2","PSAP","PTPN3","PYGL","RAB27A","RABL3","RBCK1","REL","RFC2","RFX5","RFX6","RFXANK","RFXAP","RHAG","RHCE","RHD","RINT1","RNASEH2A","RNASEH2B","RNASEH2C","RNF43","RNU4ATAC","RNU7-1","RPGRIP1L","RREB1","SAA1","SAMHD1","SC5D","SCARB2","SCNN1A","SCNN1B","SCNN1G","SEC23B","SEC24C","SEMA4D","SERPINA1","SETD2","SHPK","SKIC3","SLC10A1","SLC16A2","SLC25A13","SLC26A4","SLC2A1","SLC2A2","SLC30A10","SLC37A4","SLC44A1","SLC4A1","SLC51A","SLC51B","SLC5A5","SLCO1B1","SLCO1B3","SMAD4","SMPD1","SON","SP110","SPIB","SPINK1","SPOP","SPTA1","SPTB","SPTBN1","STK11","STX11","STX1A","STXBP2","SUPT16H","TBL2","TBX1","TBX19","TCF4","TCTN3","TFAM","TFE3","TG","TGFB1","TJP2","TMEM216","TMEM270","TMEM67","TMPRSS6","TNFSF15","TNPO3","TP53","TPI1","TPO","TRAF3IP1","TREX1","TRHR","TRMU","TSHB","TSHR","TTC26","TTC7A","TULP3","UBR1","UFD1","UGT1A1","UNC13D","UNC45A","UQCRFS1","UROS","USP53","USP9X","VIPAS39","VPS33B","VPS37D","VPS4A","VPS50","WDR19","WDR35","YARS1","ZFYVE19","ZIC3","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_ABDOMINAL_WALL":{"collection":"C5:HPO","systematicName":"M36453","pmid":"","exactSource":"HP:0004298","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004298","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_ABDOMINAL_WALL","geneSymbols":["AARS1","ABCC8","ABCC9","ABCD4","ACTA2","ACTG2","ADAMTS2","ADAMTSL2","ADNP","AEBP1","AGA","AGPAT2","ALDH18A1","ALG9","ALKBH8","AMER1","AMH","AMHR2","ANTXR1","AP1S2","APC","APC2","AR","ARID1A","ARID1B","ARPC4","ARSB","ARVCF","ARX","ATAD1","ATP1A2","ATP6V0A2","ATP6V1A","ATP6V1E1","ATP7A","ATRX","AUTS2","B3GAT3","B3GLCT","BAZ1B","BCL11B","BCL7B","BCOR","BCR","BGN","BHLHA9","BMP1","BMPER","BRAF","BRAT1","BRCA1","BRCA2","BRF1","BRIP1","BSCL2","BUB1","BUD23","C1R","C1S","CAMSAP1","CANT1","CARS1","CASK","CAVIN1","CBL","CBS","CC2D2A","CCBE1","CCDC22","CD96","CDC42","CDCA7","CDH11","CDKL5","CDKN1C","CEP120","CHAMP1","CHD3","CHD7","CHRM3","CHRNG","CHST14","CHST3","CHUK","CLCN4","CLDN19","CLIP2","COL11A1","COL11A2","COL1A1","COL1A2","COL2A1","COL3A1","COL5A1","COL5A2","COLEC10","COLEC11","COMT","COX11","CREBBP","CRKL","CSGALNACT1","CSNK2A1","CTCF","CTNNB1","CTNND2","CUL4B","CWC27","DACT1","DDX6","DGCR2","DGCR6","DGCR8","DHCR7","DICER1","DIS3L2","DLK1","DLL3","DMXL2","DNAJB4","DNAJC30","DNMT3A","DNMT3B","DPH1","DPH2","DPP9","DPYSL5","DSE","DUOX2","DUOXA2","DVL1","DVL3","DYNC2H1","DYNC2I1","DYNC2I2","DYRK1A","EED","EFEMP2","EFNB1","EHMT1","EIF4H","ELMO2","ELN","ELOVL4","EN1","EOGT","ERCC2","ERCC3","ERCC4","ESS2","EZH2","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FARSB","FAT4","FBLN5","FBN1","FBXW11","FGD1","FGFR1","FGFR2","FIBP","FKBP14","FKBP6","FLI1","FLNA","FLNB","FOCAD","FOXE3","FOXF1","FRAS1","FREM1","FREM2","FTO","FZD2","G6PC3","GAD1","GALNS","GATA4","GATA6","GDF1","GDF11","GJA1","GLB1","GLI3","GLIS3","GLRA1","GLRB","GMNN","GNAO1","GNB2","GNE","GNPAT","GNPTAB","GNS","GP1BB","GPC3","GPC4","GPC6","GPHN","GRIN1","GRIN2B","GRIP1","GRM7","GTF2E2","GTF2H5","GTF2I","GTF2IRD1","GTF2IRD2","GUSB","GZF1","H19","H4C3","HDAC4","HELLS","HES7","HESX1","HEY2","HIC1","HIRA","HIVEP2","HLA-DQA1","HLA-DQB1","HMGA2","HOXD13","HSPG2","HYLS1","HYMAI","IDS","IDUA","IFT122","IFT140","IFT80","IFT81","IGF2","IKBKG","INPP5E","INSR","IPO8","IRF6","IRX5","ISL1","IYD","JMJD1C","KAT6A","KCNA1","KCNH1","KCNJ11","KCNJ8","KCNQ1","KCNQ1OT1","KDM3B","KDM5B","KIF7","KMT2C","KNSTRN","KRAS","KRT1","LBR","LDHD","LFNG","LHX3","LHX4","LIMK1","LMNA","LMOD1","LONP1","LOX","LRP2","LRPPRC","LTBP1","LTBP4","LZTR1","MAD2L2","MAF","MAMLD1","MAN2B1","MANBA","MAPK1","MAPRE2","MASP1","MAT2A","MBTPS1","MBTPS2","MCOLN1","MDFIC","MECP2","MED12","MED13L","MED25","MEG3","MEGF8","MEIS2","MESP2","METTL27","MFAP5","MID1","MKS1","MLXIPL","MMP14","MMP2","MPLKIP","MRAS","MSX1","MTFMT","MTHFR","MTOR","MYH11","MYH3","MYLK","NAA10","NALCN","NAT8L","NCF1","NDUFA8","NECTIN1","NEK9","NEU1","NEUROD2","NFIA","NFIX","NIPBL","NKX2-5","NLRP3","NOTCH1","NOTCH2","NOTCH3","NPHP3","NRAS","NSD1","NSDHL","NUAK2","NXN","OCLN","OCRL","ODC1","OFD1","P3H1","PACS1","PAFAH1B1","PAH","PALB2","PAX8","PHGDH","PI4KA","PIEZO1","PIEZO2","PIGL","PIGN","PIGP","PIGQ","PIGS","PIGW","PIGY","PIK3CD","PIK3R1","PLAG1","PLAGL1","PLD1","PLOD1","PLOD2","PNKP","POGZ","POLR2A","POLR3GL","PORCN","POU1F1","PPP1R12A","PPP2CA","PPP2R1A","PPP2R3C","PRDM5","PRKG1","PRKG2","PROP1","PRR12","PTCH1","PTDSS1","PTPN11","PUF60","PYCR1","RAB23","RAB3GAP2","RAC1","RAD51","RAD51C","RAF1","RASA2","RFC2","RFWD3","RFX7","RIC1","RIN2","RIPK4","RIPPLY2","RIT1","RMRP","RNF113A","RNF13","RNF2","ROR2","RPGRIP1L","RPL10","RPS6KA3","RRAS","RRAS2","RREB1","RTL1","SALL1","SATB2","SCN1B","SCN2A","SEC24C","SEC31A","SEMA5A","SERPINH1","SET","SETBP1","SETD2","SF3B4","SGSH","SH3PXD2B","SHANK3","SHOC2","SHPK","SIK1","SIN3A","SKI","SKIC2","SKIC3","SLC10A7","SLC25A22","SLC25A24","SLC26A2","SLC2A10","SLC32A1","SLC35C1","SLC35D1","SLC37A4","SLC5A5","SLC5A6","SLC6A5","SLX4","SMAD2","SMAD3","SMAD4","SMARCA2","SMARCB1","SMARCC2","SMCHD1","SNIP1","SOS1","SOS2","SOX6","SPECC1L","SPRED2","SRCAP","STRA6","STS","STX1A","SUZ12","TARS1","TASP1","TBCK","TBL2","TBX1","TBX3","TBXT","TENT5A","TFE3","TG","TGDS","TGFB2","TGFB3","TGFBR1","TGFBR2","THRA","THSD4","TMCO1","TMEM107","TMEM216","TMEM270","TMEM67","TMEM70","TMEM94","TNRC6B","TOR1A","TP63","TPO","TRAF7","TRIM8","TRIP11","TRPV6","TRRAP","TSHB","TSHR","TTC26","TTC7A","TUBB","TWIST2","TXNL4A","UBA1","UBE2T","UFD1","UPB1","USP9X","VANGL2","VPS35L","VPS37D","WASHC5","WDR19","WDR35","WNT3","WNT5A","XRCC2","XRCC4","XYLT1","YWHAE","ZBTB24","ZBTB7A","ZEB1","ZFP57","ZIC3","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FUNCTIONAL_MOTOR_DEFICIT":{"collection":"C5:HPO","systematicName":"M36454","pmid":"","exactSource":"HP:0004302","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004302","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FUNCTIONAL_MOTOR_DEFICIT","geneSymbols":["AARS1","ABCC8","ABCD1","ABHD5","ACOX1","ACTA1","ACTL6B","ADAR","ADCY5","ADSS1","AGK","AGRN","AIP","AK9","AKT1","AKT3","ALAD","ALG14","ALG2","ALS2","ANO5","AOPEP","AP3B2","AP4B1","AP4E1","AP4M1","AP4S1","ARG1","ARHGEF2","ARL6IP1","ARSA","ARSI","ARV1","ASAH1","ASPA","ATL1","ATP13A2","ATP13A3","ATP1A2","ATP1A3","ATP2A1","ATP2B3","ATP5MC3","ATP6AP2","ATP6V1A","ATP7B","B4GALNT1","BAG3","BAP1","BICD2","BIN1","BRCC3","BSCL2","BVES","CACNA1A","CACNA1B","CACNA2D1","CALR","CAPN1","CAPN3","CASQ1","CCDC78","CCDC88C","CCN6","CDH23","CDK19","CDK8","CDKL5","CELF2","CFL2","CHAT","CHCHD10","CHP1","CHRNA1","CHRNB1","CHRND","CHRNE","CHST11","CIZ1","CLN8","CLTC","CNKSR2","COASY","COL12A1","COL13A1","COL6A1","COL6A2","COL6A3","COLQ","COQ2","COX20","COX7B","CPT1C","CRPPA","CRYAB","CSF1R","CWF19L1","CYFIP2","CYP27A1","CYP27B1","CYP2R1","DAB1","DAG1","DALRD3","DARS2","DCC","DDHD1","DDX6","DES","DHDDS","DHTKD1","DLAT","DMD","DNA2","DNAJB6","DNAJC13","DNAL4","DNM1","DNM1L","DNM2","DOK7","DPAGT1","DYM","DYNC1H1","DYSF","EEF1A2","EIF2AK3","EIF2S3","EIF4G1","ELOVL5","EPHB4","ERCC1","ERCC4","ERCC6","ERCC8","ERLIN1","EXT1","EXT2","FA2H","FAR1","FBXO28","FBXO38","FDX2","FGF12","FGF13","FGF14","FHL1","FIG4","FKBP14","FKRP","FKTN","FLNC","FLRT1","FTL","FUS","FZR1","GAA","GABBR2","GABRA2","GABRA5","GABRB2","GABRG2","GALC","GAN","GBA1","GBA2","GBF1","GDAP1","GDAP2","GFPT1","GIGYF2","GIPC1","GJB1","GJC2","GLE1","GLRA1","GMPPB","GNS","GOSR2","GPAA1","GPHN","GPT2","GRID2","GRIN2A","GRIN2D","GRM1","GTPBP3","GYG1","HACD1","HACE1","HADHA","HADHB","HCCS","HCN1","HERC1","HINT1","HK1","HNRNPK","HPCA","HSPB1","HSPB3","HTT","IBA57","IFIH1","INTS1","ISCU","ITGA7","ITPR3","JAK2","JPH3","KBTBD13","KCNA2","KCNB1","KCNC3","KCND3","KCNJ10","KCNQ2","KCNT1","KIF1C","KLC2","KLHL41","KLHL9","KPNA3","KY","LAMA2","LAMB2","LDHA","LIG3","LIPE","LMNB1","LMNB2","LPIN1","LRIF1","LRP12","LRP4","LRRK2","LSM11","LYSET","MAP3K20","MAPT","MARCHF6","MARS1","MATN3","MATR3","MECP2","MED25","MEGF10","MEN1","MFF","MFN2","MGME1","MICU1","MIEF2","MORC2","MPL","MPZ","MRE11","MSTO1","MT-ATP6","MT-CO1","MT-CO3","MT-TE","MTMR14","MTOR","MTPAP","MTRFR","MUSK","MYF6","MYH7","MYL2","MYO1H","MYO9A","MYOT","MYPN","NACC1","NARS2","NDRG1","NDUFA1","NDUFB11","NDUFS8","NEB","NECAP1","NEFH","NEFL","NF2","NFE2L2","NKX2-1","NKX6-2","NOL3","NOP56","NOTCH2NLC","NPR3","NTN1","NTNG1","NTRK1","NTRK2","NUBPL","NUDT2","NUP54","NUP62","NUS1","OBSCN","OCA2","OPA1","ORAI1","PACS2","PANK2","PARS2","PDE10A","PDGFB","PDK3","PEX1","PEX16","PEX2","PEX6","PFKM","PGAP1","PI4KA","PIGA","PIK3CA","PIK3R5","PKP1","PLCB1","PLEC","PLEKHG5","PLP1","PMP2","PMP22","PNPLA2","POLG","POLG2","POLR3B","POMGNT1","POMK","POMT1","POMT2","POPDC3","PPP3CA","PRF1","PRKAR1A","PRNP","PRX","PSAP","PUS3","PYCR2","PYROXD1","RAB11B","RAD51","RAPSN","RARS1","RASA1","REEP1","RILPL1","RNASEH1","RNASEH2A","RNASEH2B","RNASEH2C","RNU12","RNU7-1","RPL10","RRM2B","RSPRY1","RTN2","RYR1","RYR3","SACS","SAMHD1","SBF2","SCN1A","SCN2A","SCN3A","SCN4A","SCN8A","SCO2","SCYL1","SDHA","SDHAF1","SDHB","SDHD","SELENOI","SELENON","SETX","SFXN4","SGCA","SGCB","SGCD","SGCG","SH3TC2","SIGMAR1","SLC12A5","SLC12A6","SLC13A5","SLC18A3","SLC19A3","SLC1A2","SLC25A1","SLC25A19","SLC25A22","SLC25A4","SLC25A42","SLC2A3","SLC30A10","SLC30A9","SLC34A3","SLC38A3","SLC5A7","SLC7A6OS","SLC9A7","SMARCB1","SMARCE1","SMC1A","SMG9","SMO","SMS","SNAP25","SNCA","SORD","SPART","SPAST","SPEG","SPG11","SPG21","SPTLC1","SQSTM1","STIM1","STRADA","STUB1","STX11","STXBP2","SUFU","SURF1","SYNGAP1","SYNJ1","SYT2","SZT2","TAF1","TBC1D23","TBC1D24","TBCE","TBK1","TCAP","TDP2","TERT","TET2","TFG","TGFB1","TGM6","TIA1","TICAM1","TK2","TLR3","TMEM126B","TNNT1","TNPO3","TOR1AIP1","TPK1","TPM2","TPM3","TPP1","TRAF3","TRAF7","TRAK1","TRAPPC11","TREX1","TRMT5","TRPV4","TTBK2","TTN","TWNK","TYMP","UBA5","UBAP1","UBE3A","UNC13D","UNC93B1","USP9X","VAMP1","VAPB","VCP","VDR","VMA21","VPS13A","VPS13D","VPS35","VWA1","WARS1","WARS2","WASHC5","WDR48","WDR62","WWOX","YARS1","YWHAG"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_MUSCLE_FIBER_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M36455","pmid":"","exactSource":"HP:0004303","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004303","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MUSCLE_FIBER_MORPHOLOGY","geneSymbols":["AARS2","ABCA7","ACTA1","ACTN2","ADGRG6","ADSS1","AFG3L2","AGRN","AGTPBP1","AHCY","AIFM1","AK9","ALDOA","ALG14","ALG2","ALS2","ANO5","ANXA11","APP","ASCC1","BCS1L","BIN1","BVES","CACNA1S","CAPN3","CARS2","CASQ1","CAV3","CAVIN1","CCDC174","CCDC78","CFL2","CHAT","CHCHD10","CHKB","CHRNA1","CHRNB1","CHRND","CHRNE","CLCN6","CNBP","COL12A1","COL13A1","COL6A1","COL6A2","COL6A3","COLQ","COQ2","COQ5","COX11","CPT2","CRPPA","CRYAB","CTBP1","DAG1","DES","DGUOK","DHX16","DMD","DNAJB6","DNM2","DOK7","DPAGT1","DPM3","DYNC1H1","DYSF","EARS2","EMD","EMILIN1","FBXL4","FHL1","FKBP14","FKRP","FKTN","FLNC","FUS","FXR1","GABRA3","GARS1","GDAP1","GFER","GFPT1","GGPS1","GIPC1","GLI3","GMPPB","GNE","GOLGA2","GOSR2","GYG1","HACD1","HEXB","HNRNPA1","HNRNPA2B1","HNRNPDL","HNRNPK","HPDL","IFIH1","ISCU","ITGA7","JAG1","JAG2","KBTBD13","KCNA1","KCNE3","KCNJ18","KIF5A","KLHL40","KLHL41","KY","LAMA2","LAMB2","LAMP2","LARGE1","LDB3","LIG3","LMNA","LMOD2","LMOD3","LPIN1","LRIF1","LRP12","LRP4","LYRM4","MAP3K20","MATR3","MB","MEGF10","MGME1","MICU1","MIEF2","MIPEP","MLIP","MSTO1","MT-ATP6","MT-ATP8","MT-CO1","MT-CO2","MT-CO3","MT-CYB","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND5","MT-ND6","MT-RNR1","MT-TC","MT-TE","MT-TF","MT-TH","MT-TI","MT-TK","MT-TL1","MT-TL2","MT-TN","MT-TP","MT-TQ","MT-TS1","MT-TS2","MT-TV","MT-TW","MTM1","MTMR14","MUSK","MYF6","MYH14","MYH2","MYH7","MYL1","MYL2","MYO18B","MYO9A","MYOT","MYPN","NARS2","NDUFA4","NDUFB3","NDUFS4","NEB","NEFH","NEFL","NEK9","NOTCH2NLC","NUBPL","OBSCN","OPA1","ORAI1","PABPN1","PFKM","PHKA1","PLEC","PLIN4","PLOD1","PNPLA2","PNPT1","POLG","POLG2","POLRMT","POMGNT1","POMK","POMT1","POMT2","POPDC3","PPARG","PSEN1","PSEN2","PUS1","PYROXD1","RAPSN","REEP1","RILPL1","RNASEH1","RRM2B","RYR1","RYR3","SARS2","SCN4A","SCO2","SDHA","SELENON","SGCA","SGCB","SGCG","SIGMAR1","SIL1","SLC12A6","SLC18A3","SLC25A1","SLC25A12","SLC25A26","SLC25A32","SLC25A4","SLC25A42","SLC5A6","SLC5A7","SMN1","SMPX","SNAP25","SORL1","SPEG","SPG11","SPG7","SPTBN4","SPTLC1","SQSTM1","STAC3","STIM1","SUCLG1","SYNE1","SYNE2","SYT2","TCAP","TIA1","TK2","TMEM43","TNNC2","TNNT1","TNPO3","TNXB","TOMM40","TOR1AIP1","TPM2","TPM3","TRAPPC11","TREM2","TRIM32","TRIP4","TRMU","TRPV4","TTN","TWNK","TYMP","UBA1","UNC45B","UQCRQ","VAMP1","VCP","VMA21","VPS13A","YARS2","YME1L1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INVOLUNTARY_MOVEMENTS":{"collection":"C5:HPO","systematicName":"M36456","pmid":"","exactSource":"HP:0004305","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004305","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INVOLUNTARY_MOVEMENTS","geneSymbols":["AARS1","AARS2","AASS","ABCA7","ABCB11","ABCB4","ABCB6","ABCB7","ABCC8","ABCD1","ABHD12","ABHD16A","ACAT2","ACBD5","ACO2","ACP5","ACTL6B","ADA2","ADAMTS13","ADAR","ADCY5","ADGRG1","ADGRV1","ADH1C","ADPRS","ADRA2B","ADSL","AFF3","AFG3L2","AGTPBP1","AHI1","AIFM1","AKT1","AKT3","ALDH18A1","ALS2","AMACR","AMPD2","AMT","ANO10","ANO3","ANOS1","ANXA11","AP1S2","AP2M1","AP3B2","AP5Z1","APC2","APOE","APP","APTX","AR","ARL13B","ARL3","ARMC9","ARSA","ARV1","ARX","ASAH1","ASNS","ATAD1","ATCAY","ATG7","ATL1","ATM","ATN1","ATP11A","ATP13A2","ATP1A2","ATP1A3","ATP2A1","ATP2B3","ATP5MK","ATP6AP2","ATP6V0A1","ATP6V1A","ATP6V1B2","ATP7A","ATP7B","ATP8B1","ATXN1","ATXN10","ATXN2","ATXN3","ATXN7","ATXN8OS","AUH","B9D1","B9D2","BANK1","BAP1","BAZ1B","BCL7B","BEAN1","BICD2","BLK","BOLA3","BRAT1","BSCL2","BUD23","C19orf12","C4A","C4B","CA8","CABP4","CACNA1A","CACNA1B","CACNA1C","CACNA1D","CACNA1E","CACNA1G","CACNA1H","CACNA1S","CACNA2D1","CACNA2D2","CACNB4","CAMK2A","CAMLG","CAMTA1","CAPN1","CARS1","CARS2","CASK","CASR","CAV1","CBY1","CC2D2A","CCDC141","CCDC88A","CCDC88C","CCNF","CCT5","CD28","CD40LG","CDC42BPB","CDH23","CDK19","CDKL5","CELF2","CEP104","CEP120","CEP126","CEP41","CEP85L","CERS1","CHCHD10","CHCHD2","CHD2","CHD7","CHKA","CHMP1A","CHMP2B","CHRNA2","CHRNA4","CHRNB2","CIC","CILK1","CIZ1","CLCN2","CLCN4","CLCN7","CLIP2","CLN3","CLN5","CLN6","CLN8","CLPB","CLTC","CNKSR2","CNPY3","CNTN2","COA7","COG8","COL25A1","COL6A3","COQ2","COQ5","COQ6","COQ8A","COX20","COX4I1","CP","CPLANE1","CPLX1","CR2","CRAT","CRH","CRLS1","CRYAB","CSPP1","CSTB","CTC1","CTDP1","CTH","CTLA4","CTNND2","CTSF","CUL4B","CUX2","CWF19L1","CYB5A","CYB5R3","CYFIP2","CYP27A1","CYP7B1","DAB1","DALRD3","DARS2","DCAF17","DCC","DCTN1","DDC","DDOST","DEAF1","DENND5A","DEPDC5","DHDDS","DHFR","DHX30","DLAT","DLST","DMD","DMXL2","DNAJC13","DNAJC19","DNAJC30","DNAJC5","DNAJC6","DNASE1","DNM1","DNM1L","DNMT1","DNMT3A","DOCK7","DPAGT1","DPM1","DPYSL5","DRD2","DRD3","DTYMK","DUSP6","DYSF","EEF1A2","EEF2","EFHC1","EGR2","EIF2AK2","EIF4G1","EIF4H","ELN","ELOVL1","ELOVL4","ELOVL5","ELP2","EMILIN1","EPAS1","EPM2A","EPRS1","ERCC2","ERCC3","ERCC4","ERCC5","ERCC6","ERCC8","ERGIC1","ERLIN1","ERLIN2","ETS1","EXOSC3","EXOSC8","EXOSC9","FA2H","FAM149B1","FAR1","FARS2","FBXL4","FBXO28","FBXO38","FBXO7","FCGR2B","FCGR3B","FEZF1","FGF12","FGF13","FGF14","FGF17","FGF8","FGFR1","FH","FKBP6","FKRP","FLRT3","FLVCR1","FMR1","FOXG1","FOXRED1","FRMD5","FRMPD4","FRRS1L","FTL","FUS","FXN","FXR1","FZR1","GABBR2","GABRA1","GABRA2","GABRA3","GABRA5","GABRB2","GABRB3","GABRD","GABRG2","GALC","GALT","GAMT","GBA1","GBA2","GCDH","GCH1","GCK","GFAP","GFM2","GGT1","GIGYF2","GJA5","GJA8","GJB1","GJC2","GLA","GLB1","GLDC","GLRA1","GLRB","GLRX5","GLUD2","GLYCTK","GM2A","GMPPB","GNA11","GNAO1","GNAS","GNB1","GOLGA2","GON7","GOSR2","GPAA1","GPHN","GPR88","GPT2","GRIA2","GRIA3","GRIA4","GRIK2","GRIN1","GRIN2A","GRIN2B","GRIN2D","GRM1","GRM7","GRN","GSS","GTF2E2","GTF2H5","GTF2I","GTF2IRD1","GTF2IRD2","GTPBP2","GUF1","HACE1","HCFC1","HCN1","HESX1","HEXB","HIBCH","HIKESHI","HINT1","HLA-DQB1","HLA-DRB1","HMBS","HMGA2","HMGCL","HNF4A","HNRNPA1","HNRNPA2B1","HNRNPU","HPCA","HPRT1","HS6ST1","HSD17B10","HSD17B4","HSPB1","HSPD1","HTRA2","HTT","HYCC1","HYLS1","IFIH1","IFRD1","IFT74","IGHG1","IL10","IL17RD","IMPDH2","INPP5E","IRAK1","IREB2","IRF2BPL","IRF4","IRF5","ITGAM","ITM2B","ITPA","ITPR1","JAG1","JAZF1","JPH3","JRK","KARS1","KATNIP","KCNA1","KCNA2","KCNB1","KCNC1","KCNC2","KCNC3","KCND3","KCNJ10","KCNJ18","KCNK4","KCNK9","KCNMA1","KCNN2","KCNQ2","KCNQ3","KCNT1","KCTD17","KCTD7","KDM1A","KIAA0319L","KIAA0586","KIAA0753","KIF1A","KIF1B","KIF1C","KIF5A","KIF7","KLC2","KMT2B","KNSTRN","KPNA3","LAMA1","LEMD2","LEMD3","LGI3","LIAS","LIG3","LIMK1","LMAN2L","LMNB1","LMNB2","LNPK","LRP12","LRPPRC","LRRK2","LRSAM1","LSM11","LYST","LZTR1","MACF1","MAG","MAN1B1","MAOA","MAPK10","MAPT","MARCHF6","MARS1","MAX","MDH2","MECP2","MECR","MED11","MED17","MED23","MEGF10","MEN1","METTL27","MFN2","MICOS13","MICU1","MINPP1","MKS1","MLXIPL","MMAA","MMACHC","MME","MMUT","MOCS1","MOCS2","MORC2","MPLKIP","MPZ","MRE11","MRM2","MRPL12","MRPS34","MSTO1","MT-ATP6","MT-CO1","MT-CO2","MT-CO3","MT-CYB","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND4L","MT-ND5","MT-ND6","MT-TF","MT-TH","MT-TI","MT-TK","MT-TL1","MT-TP","MT-TQ","MT-TS1","MT-TS2","MT-TT","MT-TV","MT-TW","MTFMT","MTOR","MTPAP","MTRFR","MYBPC1","MYH14","MYL2","MYO5A","MYORG","NADK2","NAGA","NARS1","NAXD","NAXE","NCF1","NDE1","NDNF","NDP","NDRG1","NDUFA1","NDUFA13","NDUFA4","NDUFA9","NDUFAF3","NDUFAF5","NDUFS2","NDUFS4","NDUFS8","NDUFV1","NECAP1","NEFH","NEFL","NEMF","NEU1","NEUROD2","NEXMIF","NF1","NF2","NFASC","NFE2L2","NFU1","NGF","NGLY1","NHLRC1","NHLRC2","NIPA1","NKX2-1","NKX6-2","NOL3","NONO","NOP56","NOTCH2NLC","NPHP1","NPTX1","NR1H4","NR4A2","NSD1","NTNG1","NTNG2","NTRK2","NUP214","NUP54","NUP62","NUS1","NUTM2B-AS1","OCA2","OCRL","OFD1","OPA1","OPA3","OPHN1","OPTN","OSTM1","OXR1","PACS2","PAH","PANK2","PARK7","PARS2","PC","PCBD1","PCDH19","PDCD1","PDE10A","PDE2A","PDE6D","PDE8B","PDGFB","PDGFRB","PDHA1","PDK3","PDYN","PET100","PEX10","PEX16","PEX2","PEX6","PFN1","PGAP1","PGAP2","PGAP3","PGK1","PGM3","PHACTR1","PHGDH","PHIP","PI4KA","PIBF1","PIGA","PIGL","PIGN","PIGO","PIGP","PIGQ","PIGT","PIGV","PIGW","PIGY","PIK3CA","PIK3CD","PIK3R5","PINK1","PITRM1","PITX3","PLA2G6","PLCB1","PLP1","PLPBP","PMM2","PMP2","PMP22","PMPCA","PNKD","PNKP","PNP","PNPLA2","PNPLA6","PNPO","PNPT1","PODXL","POLG","POLG2","POLR1C","POLR3A","POLR3B","POLR3K","POMGNT1","POMK","POMT1","POMT2","POU3F3","POU3F4","POU4F1","PPP1R15B","PPP2R2B","PPP3CA","PPT1","PRDM8","PRDX1","PRDX3","PRICKLE1","PRKAR1B","PRKCG","PRKN","PRKRA","PRNP","PROK2","PROKR2","PRORP","PRPH","PRPS1","PRRT2","PRUNE1","PRX","PSAP","PSAT1","PSEN1","PSEN2","PSMC1","PTCD3","PTEN","PTH","PTPN22","PTS","PUM1","PURA","PUS7","PXK","PYCR1","QDPR","QRICH1","RAB18","RAB39B","RAB3GAP2","RAB7A","RAPGEF2","RARS1","RBM10","REEP1","REEP2","REPS1","RET","RFC1","RFC2","RFT1","RHOBTB2","RILPL1","RLIM","RMND1","RNASEH1","RNASEH2A","RNASEH2B","RNASEH2C","RNASET2","RNF113A","RNF216","RNU12","RNU7-1","RORA","RORB","RPGRIP1L","RPL10","RRM2B","RTN2","RUSC2","RYR1","SACS","SAMD12","SAMD9L","SAMHD1","SATB1","SBF2","SC5D","SCARB2","SCN1A","SCN1B","SCN2A","SCN3A","SCN4A","SCN8A","SCN9A","SCO2","SCP2","SCYL1","SCYL2","SDHA","SDHAF2","SDHB","SDHC","SDHD","SELENOI","SEMA3A","SEMA6B","SEPSECS","SERPINI1","SETD2","SETX","SFXN4","SGCE","SH2B1","SH3TC2","SHQ1","SIGMAR1","SIK1","SLC12A6","SLC13A5","SLC16A2","SLC17A5","SLC18A2","SLC19A3","SLC1A2","SLC1A3","SLC1A4","SLC20A2","SLC25A10","SLC25A11","SLC25A12","SLC25A13","SLC25A15","SLC25A19","SLC25A21","SLC25A22","SLC25A4","SLC25A42","SLC25A46","SLC2A1","SLC2A3","SLC30A10","SLC30A9","SLC32A1","SLC33A1","SLC38A3","SLC39A14","SLC39A4","SLC44A1","SLC46A1","SLC52A2","SLC52A3","SLC5A7","SLC6A1","SLC6A17","SLC6A3","SLC6A5","SLC6A8","SLC6A9","SLC7A6OS","SLC9A1","SMARCB1","SMARCE1","SMC1A","SMG9","SMN1","SMN2","SMO","SMPD1","SMS","SNCA","SNCAIP","SNORD118","SNRPN","SNX10","SOD1","SORL1","SOX10","SPART","SPAST","SPEN","SPG11","SPG21","SPOP","SPP1","SPR","SPRY4","SPTAN1","SPTBN1","SPTBN2","SPTBN4","SPTLC1","SQSTM1","ST3GAL3","ST3GAL5","STAMBP","STARD7","STAT4","STUB1","STX16","STX1A","STX1B","STXBP1","SUCLA2","SUCLG1","SUFU","SUOX","SYNE1","SYNGAP1","SYNJ1","SYT1","SYT2","SZT2","TACR3","TAF1","TANGO2","TARDBP","TARS1","TAT","TBC1D24","TBCD","TBK1","TBL2","TBP","TCEAL1","TCIRG1","TCTN1","TCTN2","TCTN3","TECR","TENM4","TERT","TFG","TGM6","TH","THAP1","THG1L","THOC2","TIMM50","TIMM8A","TIMMDC1","TK2","TLR7","TMCO1","TMEM106B","TMEM127","TMEM151A","TMEM216","TMEM218","TMEM222","TMEM231","TMEM237","TMEM240","TMEM270","TMEM63A","TMEM67","TMEM70","TNFAIP3","TNFRSF1B","TNFSF11","TNFSF4","TNIP1","TNNT1","TNPO2","TNR","TNRC6A","TOE1","TOGARAM1","TOMM40","TOPORS","TOR1A","TPI1","TPK1","TPP1","TPR","TRAF7","TRAK1","TRAPPC11","TRAPPC12","TRAPPC6B","TREM2","TREX1","TRIM8","TRIO","TRMT5","TRPM3","TSEN15","TSEN2","TSEN34","TSEN54","TSFM","TSHR","TSPOAP1","TSPYL1","TTC19","TTPA","TTR","TUBB4A","TWNK","TXN2","TYROBP","UBA1","UBA5","UBAP1","UBE2L3","UBE3A","UBE3C","UBQLN2","UBTF","UCHL1","UFC1","UGDH","UGT1A1","UQCRC1","UQCRQ","UROC1","USP8","VAC14","VAMP1","VAMP2","VAPB","VCP","VHL","VLDLR","VPS13A","VPS13C","VPS13D","VPS35","VPS37A","VPS37D","VPS41","VPS4A","VPS53","VRK1","VWA1","VWA3B","WARS2","WASHC5","WDR11","WDR45","WDR81","WFS1","WWOX","XK","XPA","XPNPEP3","XPR1","YEATS2","YME1L1","YRDC","YWHAG","YY1","ZFR","ZFYVE26","ZFYVE27","ZNF142","ZNHIT3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_ENDOCARDIUM_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M36457","pmid":"","exactSource":"HP:0004306","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004306","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ENDOCARDIUM_MORPHOLOGY","geneSymbols":["ABCC6","ACTN2","ALPK3","BAZ1B","BCL7B","BRAF","BUD23","C4A","CCR1","CLEC7A","CLIP2","CSRP3","DNAJC30","EIF4H","ELN","ENPP1","ERAP1","FAS","FKBP6","GBA1","GJA5","GLA","GTF2I","GTF2IRD1","GTF2IRD2","HLA-B","IDUA","IFNGR1","IL10","IL12A","IL12A-AS1","IL12B","IL17F","IL17RA","IL17RC","IL23R","KLRC4","LDB3","LIMK1","MCM10","MEFV","METTL27","MLX","MLXIPL","MYH7","MYL3","NCF1","PDGFRA","PRKAR1A","PTPN11","RAF1","RFC2","SLC22A5","SP110","STAT4","STX1A","TAFAZZIN","TBL2","TLR4","TMEM270","TRAF3IP2","UBAC2","VCL","VPS37D"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_ANATOMIC_LOCATION_OF_THE_HEART":{"collection":"C5:HPO","systematicName":"M36458","pmid":"","exactSource":"HP:0004307","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004307","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ANATOMIC_LOCATION_OF_THE_HEART","geneSymbols":["ACVR2B","AHI1","ANKS6","ARL13B","ARL2BP","ARL3","ARMC9","B9D1","B9D2","BCOR","CBY1","CC2D2A","CCDC103","CCDC39","CCDC40","CCDC65","CCNO","CDH2","CEP104","CEP120","CEP290","CEP41","CFAP221","CFAP298","CFAP300","CFAP45","CFAP52","CFAP53","CFAP74","CFC1","CIROP","COL18A1","CPLANE1","CRELD1","CSPP1","DNAAF1","DNAAF11","DNAAF2","DNAAF3","DNAAF4","DNAAF5","DNAAF6","DNAH1","DNAH11","DNAH5","DNAH9","DNAI1","DNAI2","DNAJB13","DNAL1","DNAL4","DRC1","DYNC2LI1","EVC","EVC2","FANCB","FOXJ1","GAS2L2","GAS8","GATA4","GDF1","GLI1","HES7","HYDIN","HYLS1","IFT74","INPP5E","INVS","IRF6","KATNIP","KIAA0586","KIAA0753","LMBRD1","LMNA","LRRC56","LZTFL1","MCIDAS","MEGF8","MKS1","MMP21","MNS1","MSX1","MYRF","NECTIN1","NEK10","NEK8","NME5","NME8","NODAL","NPHP3","ODAD1","ODAD2","ODAD3","ODAD4","OFD1","OTX2","PACS2","PAK2","PDE6D","PIBF1","PIEZO2","PKD1L1","PKD2","PQBP1","PRKACA","PRKACB","PRRX1","ROBO1","RPGR","RPGRIP1","RPGRIP1L","RSPH1","RSPH3","RSPH4A","RSPH9","RTTN","SH2B1","SLC19A2","SLC38A3","SMAD2","SPAG1","SPEF2","SRCAP","STK36","SUFU","TCTN1","TCTN2","TCTN3","TGDS","TMEM107","TMEM216","TMEM218","TMEM231","TMEM237","TMEM67","TOGARAM1","TP63","TTC12","TTC26","TTC8","TXNDC15","UBR1","WT1","ZIC3","ZMPSTE24","ZMYND10","ZNF423"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_VENTRICULAR_ARRHYTHMIA":{"collection":"C5:HPO","systematicName":"M36459","pmid":"","exactSource":"HP:0004308","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004308","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VENTRICULAR_ARRHYTHMIA","geneSymbols":["ABCA3","ABCC8","ABCC9","ACADVL","ACTC1","ACTN2","AKAP9","ALG10B","AMN","ANK2","ASXL1","ATP1A3","BAG5","BMP2","BTNL2","CACNA1C","CACNA1S","CACNA2D1","CACNB2","CALM1","CALM2","CALM3","CASQ2","CAV3","CAVIN1","CDH2","CDH23","CITED2","CLCNKB","CNBP","COX7B","CPOX","CPT2","CRYAB","CSF2RA","CSF2RB","CSRP3","CTNNA3","CUBN","DHCR7","DNAJC30","DNMT3A","DOHH","DPP6","DSC2","DSG2","DSP","DST","DTNA","ECE1","ELP1","EMD","FBP1","FHL1","FLAD1","FMO3","FNIP1","GAA","GABRA3","GATA4","GATA6","GJA5","GNAI2","GNB5","GPD1L","GTPBP3","GYG1","HCCS","HCN4","HLA-DRB1","HMBS","HNF1A","HNF4A","IFNG","JAG2","JPH2","JUP","KCND3","KCNE1","KCNE2","KCNE3","KCNE5","KCNH2","KCNJ11","KCNJ18","KCNJ2","KCNJ5","KCNJ8","KCNQ1","KCTD1","KIT","KYNU","LAMP2","LDB3","LMNA","LMOD2","MAX","MRPS14","MT-ATP6","MT-CO1","MT-CO2","MT-CO3","MT-CYB","MT-ND1","MT-ND2","MT-ND4","MT-ND4L","MT-ND5","MT-ND6","MT-TC","MT-TF","MT-TH","MT-TK","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TV","MT-TW","MTFMT","MYBPC3","MYH6","MYH7","MYL2","MYL3","MYOZ2","MYRF","NAA10","NAXD","NDUFAF1","NDUFB11","NDUFS2","NFIX","NKX2-5","NKX2-6","NOS1AP","NPPA","NUP155","PGM1","PKP2","PLN","PLXND1","POLG","POLG2","PPOX","PRKAG2","PRORP","PYGM","RAF1","RANGRF","RET","RHAG","RHCE","RHD","RRM2B","RYR1","RYR2","SCN10A","SCN1B","SCN2B","SCN3B","SCN4B","SCN5A","SCN9A","SCNN1A","SDHB","SDHC","SDHD","SEMA3A","SFTPB","SFTPC","SGO1","SLC12A3","SLC19A2","SLC25A20","SLC25A4","SLC4A3","SLMAP","SNTA1","SPRED1","SRSF2","SRY","SYNE1","SYNE2","TANGO2","TBX20","TBX5","TCAP","TECRL","TET2","TGFB3","TLL1","TMEM127","TMEM43","TNNC1","TNNI3","TNNI3K","TOR1AIP1","TPM1","TRDN","TRPM4","TSC1","TSC2","TSHR","TTN","TWNK","UCP2","VEZF1","VHL","VPS33A","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_VENTRICULAR_PREEXCITATION":{"collection":"C5:HPO","systematicName":"M36460","pmid":"","exactSource":"HP:0004309","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004309","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VENTRICULAR_PREEXCITATION","geneSymbols":["ATP1A3","BMP2","DNAJC30","FNIP1","GAA","GTPBP3","IFNG","JAG2","LAMP2","MRPS14","MT-ATP6","MT-CO1","MT-CO2","MT-CO3","MT-CYB","MT-ND1","MT-ND2","MT-ND4","MT-ND4L","MT-ND5","MT-ND6","MT-TC","MT-TF","MT-TH","MT-TK","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TV","MT-TW","MTFMT","NDUFAF1","NDUFS2","PRKAG2","TCAP","TNNI3","TSC1","TSC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_MACROPHAGE_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M36461","pmid":"","exactSource":"HP:0004311","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004311","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MACROPHAGE_MORPHOLOGY","geneSymbols":["APOE","ASAH1","CALR","CD27","CTLA4","CYBA","CYBB","DNASE2","GLB1","GPR35","HAVCR2","HLA-DPA1","HLA-DPB1","IFNG","IFNGR1","ITK","JAK2","LIPA","LYST","MPL","MST1","NCF1","NCF2","NEU1","NPC1","NPC2","PIK3CG","PRF1","PRTN3","PTPN22","RAB27A","SAMD9L","SEMA4D","SGCG","SH2B3","SH2D1A","SLC29A3","SLC7A7","SMPD1","STX11","STXBP2","TCF4","TLR8","UNC13D","XIAP","ZNFX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_RETICULOCYTE_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M36462","pmid":"","exactSource":"HP:0004312","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004312","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RETICULOCYTE_MORPHOLOGY","geneSymbols":["ABCB6","ABCG8","ADA2","ADAMTS13","AMN","ANK1","BCL11A","CASK","CASP10","CDAN1","CDIN1","CFH","CFHR1","CFHR3","CLCN7","CPOX","CUBN","EPB41","EPB42","FANCA","FANCC","FANCD2","FANCE","FAS","FASLG","G6PD","GATA1","GCLC","GYPC","HBB","HBG1","HBG2","HEATR3","HK1","IFNG","KCNN4","KLF1","MTTP","MYSM1","NHLRC2","PFKM","PGK1","PIEZO1","PIGA","PKLR","PRF1","PRKCD","RASGRP1","RHAG","RHCE","RHD","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS7","SBDS","SEC23B","SLC2A1","SLC4A1","SPTA1","SPTB","STEAP3","TCN2","TERC","TERT","TSR2","UROS"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DECREASED_CIRCULATING_ANTIBODY_LEVEL":{"collection":"C5:HPO","systematicName":"M36463","pmid":"","exactSource":"HP:0004313","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004313","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_CIRCULATING_ANTIBODY_LEVEL","geneSymbols":["AARS1","ADA","ADA2","ADAMTS3","AICDA","AK2","ALG12","ARHGEF1","ATM","ATP6AP1","ATP6AP2","B2M","BACH2","BCL10","BLM","BLNK","BTK","CARD11","CARMIL2","CARS1","CASP10","CASP8","CAVIN1","CCBE1","CCND1","CD19","CD247","CD27","CD3D","CD3E","CD3G","CD40","CD40LG","CD55","CD70","CD79A","CD79B","CD81","CDCA7","CIITA","CISD2","CNBP","COG6","CORO1A","CR2","CSNK2A1","CTLA4","CTNNBL1","CTPS1","CXCR4","DCLRE1C","DNMT3B","DOCK8","EPG5","ERCC2","ERCC3","EXTL3","FAS","FASLG","FAT4","FLNA","FNIP1","GTF2E2","GTF2H5","HELLS","HLA-DQA1","HLA-DQB1","HYOU1","ICOS","IFIH1","IGHG2","IGHM","IGKC","IGLL1","IKBKB","IKBKG","IKZF1","IL21","IL21R","IL2RA","IL2RG","IL6R","IL6ST","IPO8","IRF2BP2","ITCH","ITK","IVNS1ABP","JAK3","KNSTRN","KRT14","KRT5","LAMTOR2","LAT","LCK","LIG1","LRBA","LRRC8A","MAGT1","MALT1","MAN2B1","MGAT2","MOGS","MPLKIP","MS4A1","MSN","MTHFD1","MTOR","MYSM1","NAE1","NBN","NFE2L2","NFKB1","NFKB2","NFKBIA","NHEJ1","NHLRC2","OAS1","PIGT","PIK3CD","PIK3CG","PIK3R1","PLCG2","PLVAP","PMM2","POLE","PRF1","PRIM1","PRKCD","PTEN","PTPRC","RAC2","RAD50","RAG1","RAG2","RASGRP1","RBM8A","REL","RFX5","RFXANK","RFXAP","RIPK1","RMRP","RNF113A","RNF168","RNU4ATAC","RPA1","RTEL1","SAMD9L","SASH3","SH2D1A","SH3KBP1","SIK3","SKIC2","SKIC3","SLC25A13","SLC35C1","SLC39A7","SLC46A1","SLC5A6","SLC7A7","SMARCAL1","SON","SP110","SPI1","SPINK5","SPPL2A","STAT2","STAT3","STX11","STXBP2","SYK","TARS1","TCF3","TCN2","TFRC","TIMM8A","TLR8","TNFRSF11A","TNFRSF13B","TNFRSF13C","TNFRSF9","TNFSF12","TOM1","TONSL","TP53","TRMU","TRNT1","TTC7A","TYMS","UNC13D","UNG","VPS33A","WAS","XIAP","ZAP70","ZBTB24","ZEB2","ZNF341"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DECREASED_CIRCULATING_ALDOSTERONE_LEVEL":{"collection":"C5:HPO","systematicName":"M36464","pmid":"","exactSource":"HP:0004319","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004319","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_CIRCULATING_ALDOSTERONE_LEVEL","geneSymbols":["AAAS","AIRE","CYP11A1","CYP11B1","CYP11B2","CYP17A1","HSD11B2","HSD3B2","MC2R","MRAP","NNT","NR0B1","NR3C1","NR3C2","SCNN1A","SCNN1B","SCNN1G","STAR","TXNRD2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_VAGINAL_FISTULA":{"collection":"C5:HPO","systematicName":"M36465","pmid":"","exactSource":"HP:0004320","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004320","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VAGINAL_FISTULA","geneSymbols":["CAPN15","CCNQ","DACT1","DDB1","DYNC2H1","DYNC2I1","DYNC2I2","FREM1","IFT80","IL10RB","JAK3","KIF7","LONP1","MKKS","MNX1","PI4KA","POLR1B","POLR1C","POLR1D","POR","RECQL4","RNU12","SALL1","SALL4","SLC35A2","SPINT2","TCOF1","TCTN3","UBR1","WDR35"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INCREASED_BODY_WEIGHT":{"collection":"C5:HPO","systematicName":"M36467","pmid":"","exactSource":"HP:0004324","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004324","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_BODY_WEIGHT","geneSymbols":["ABCA4","ABCB4","ABCC8","ABCC9","ABHD5","ACADVL","ADCY3","ADGRL1","ADNP","ADRB3","AFF4","AGBL5","AGRP","AHI1","AHR","AIP","AKT1","AKT2","ALB","ALMS1","ANK3","ANOS1","AP1S3","AP4B1","AP4E1","AP4M1","AP4S1","APOE","APPL1","ARHGEF18","ARL13B","ARL2BP","ARL3","ARL6","ARMC5","ARNT2","ARVCF","ASH1L","ATP10A","ATP6AP2","ATP7B","ATRX","BAP1","BAZ1B","BBIP1","BBS1","BBS10","BBS12","BBS2","BBS4","BBS5","BBS7","BBS9","BCL7B","BDNF","BEST1","BIN1","BLK","BLM","BPTF","BRAF","BRD4","BUD23","CA4","CACNA1S","CANT1","CARTPT","CASZ1","CC2D2A","CCDC141","CCDC28B","CD46","CDH23","CDHR1","CDKN2A","CEL","CELA2A","CEP164","CEP19","CEP290","CERKL","CFAP410","CFAP418","CFH","CFI","CHD7","CHD8","CLIP2","CLRN1","CNGA1","CNGB1","CNNM2","CNTNAP2","COA3","COL10A1","COMT","COPB1","CPE","CRB1","CREBBP","CRX","CTNNB1","CTSH","CTSK","CUL4B","CYP19A1","CYP7A1","DCC","DDB1","DDX6","DEAF1","DHDDS","DHX38","DICER1","DIS3L2","DLK1","DMPK","DNAJC30","DNM2","DNMT3A","DPYD","DUSP6","DYNC2I2","DYRK1B","EDNRB","EHMT1","EIF2S3","EIF4H","ELN","EMD","ENPP1","EP300","ERMARD","EXOC6B","EYS","FAM161A","FBXO11","FEZF1","FGF17","FGF8","FGFR1","FGFR3","FHL1","FIBP","FKBP6","FLII","FLRT3","FMR1","FOXG1","FOXP1","FSCN2","FXR1","GABRA3","GABRD","GATA4","GCK","GHR","GHRL","GJA5","GJA8","GLI3","GNAI1","GNAS","GNAS-AS1","GP1BB","GTF2I","GTF2IRD1","GTF2IRD2","GUCA1B","H6PD","HACE1","HCRT","HDAC4","HDAC8","HEATR3","HECTD4","HELLPAR","HERC1","HERC2","HESX1","HGSNAT","HIRA","HLA-DQB1","HLA-DRB1","HNF1A","HNF1B","HNF4A","HS6ST1","HSD11B1","HSPG2","IDH3A","IDH3B","IER3IP1","IFT140","IFT172","IFT27","IFT74","IFT88","IGF1","IGF1R","IGFALS","IGSF1","IL17RD","IL36RN","IMPDH1","IMPG1","IMPG2","INPP5E","INS","IQSEC2","JMJD1C","KCNAB2","KCNJ11","KCNJ18","KDM6A","KIAA1549","KIDINS220","KIZ","KLF11","KLHL7","KMT2C","KMT2D","LARS2","LAS1L","LEP","LEPR","LHX3","LHX4","LIMK1","LIPE","LMNA","LRAT","LUZP1","LZTFL1","MAGEL2","MAK","MAN1B1","MAPK8IP3","MC4R","MCM3AP","MECP2","MEF2A","MEG3","MEGF8","MEN1","MERTK","METTL27","MIA3","MKKS","MKRN3","MKS1","MLXIPL","MMP23B","MOG","MTFMT","MTMR14","MTOR","MYF6","MYT1L","NCF1","NDN","NDNF","NDST1","NEK2","NEUROD1","NF2","NHLH2","NIN","NIPBL","NKAP","NPAP1","NPHP1","NR0B2","NR2E3","NR3C1","NRL","NSD1","NTRK2","OCA2","ODC1","OFD1","OTX2","P2RY11","P4HTM","PAX4","PAX6","PCARE","PCNT","PCSK1","PDE11A","PDE4D","PDE6A","PDE6B","PDE6G","PDGFB","PDPN","PDSS1","PDX1","PGM2L1","PHF21A","PHF6","PHIP","PHKA2","PHKB","PHKG2","PIGA","PIGL","PIGN","PIGT","PIK3CA","PKDCC","PNKP","PNPLA2","PNPLA6","POGZ","POMC","POMGNT1","POU1F1","POU3F4","PPARG","PRCD","PRDM16","PRKACA","PRKAR1A","PRKAR1B","PRKCZ","PRMT7","PROK2","PROKR2","PROM1","PROP1","PRORP","PRPF3","PRPF31","PRPF4","PRPF6","PRPF8","PRPH2","PSMD12","PTCH1","PTEN","PWAR1","PWRN1","RAB23","RAD21","RAF1","RAI1","RBMX","RBP3","RDH12","REEP6","RERE","RFC2","RGR","RHO","RIT1","RLBP1","RNF135","RNPC3","ROM1","RP1","RP1L1","RP2","RP9","RPE65","RPGR","RPS6KA3","RREB1","RTL1","RYR1","SAG","SATB1","SCAPER","SCLT1","SDC3","SDCCAG8","SEC24C","SECISBP2","SEMA3A","SEMA4A","SETBP1","SETD1A","SETD2","SH2B1","SH3KBP1","SHANK3","SHOC2","SHOX","SIM1","SIN3A","SKI","SLC10A7","SLC25A4","SLC7A14","SLC7A7","SLC9A7","SMAD4","SMARCB1","SMARCE1","SMC1A","SMC3","SMO","SNORD115-1","SNORD116-1","SNRNP200","SNRPN","SOS1","SOX10","SOX2","SOX3","SPATA7","SPEN","SPG11","SPRY4","SPTBN1","SRY","STEEP1","STX16","STX1A","SUFU","SUPT16H","SYNE1","SYNE2","TACR3","TAF1","TAOK1","TBC1D2B","TBL2","TBX1","TBX3","TCF20","TERT","TFE3","THOC2","THRA","THRB","TMCO1","TMEM218","TMEM270","TMEM43","TMEM67","TMLHE","TNFSF4","TOGARAM1","TOPORS","TP53","TRAF3IP1","TRAF7","TRAPPC9","TRHR","TRIM32","TRIP12","TRIP4","TTC8","TUB","TULP1","UBE2A","UBE3A","UBE3C","UBE4B","UCP2","UCP3","UFD1","UNC45B","USH2A","USP48","USP7","USP8","VPS13B","VPS37D","WAC","WDPCP","WDR11","WNT4","WT1","XRCC4","XYLT1","YY1","ZBTB20","ZBTB7A","ZNF365","ZNF408","ZNF513","ZNF711","ZNRF3","ZPR1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DECREASED_BODY_WEIGHT":{"collection":"C5:HPO","systematicName":"M47092","pmid":"","exactSource":"HP:0004325","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004325","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_BODY_WEIGHT","geneSymbols":["AARS1","AARS2","AASS","ABCA12","ABCA3","ABCB11","ABCB4","ABCC6","ABCC8","ABCD1","ABCD4","ABL1","ACAD9","ACADM","ACADS","ACADVL","ACAT1","ACD","ACO2","ACOX1","ACSF3","ACSL5","ACTA1","ACTB","ACTG1","ACTL6B","ACVR1","ADA","ADA2","ADAM17","ADAR","ADAT3","ADCY5","ADH5","ADK","ADNP","AFF3","AGPAT2","AGPS","AGR2","AGTPBP1","AGXT","AHCY","AHDC1","AIMP1","AK2","AKR1D1","AKT1","ALAD","ALB","ALDH18A1","ALDOB","ALG11","ALG12","ALG13","ALG2","ALG3","ALG6","ALG8","ALG9","ALOX12B","ALOXE3","ALPL","ALS2","AMACR","AMER1","AMN","AMPD2","ANAPC1","ANKLE2","ANKRD55","ANO1","ANOS1","ANTXR2","AP1B1","AP3B2","AQP2","AR","ARCN1","ARFGEF2","ARHGAP31","ARID1B","ARPC1B","ARV1","ARVCF","ARX","ASAH1","ASCL1","ASH1L","ASL","ASNS","ASS1","ASXL1","ASXL3","ATM","ATP1A2","ATP1A3","ATP5F1A","ATP5F1B","ATP6AP1","ATP6V0A2","ATP6V0A4","ATP6V1A","ATP6V1E1","ATP7A","ATP7B","ATP8B1","ATP9A","ATPAF2","ATR","ATRIP","ATRX","ATXN7","AUH","AUTS2","AVP","AVPR2","B3GALT6","B3GLCT","B4GALT1","B4GALT7","BANF1","BAP1","BAZ1B","BCAP31","BCL10","BCL2","BCL6","BCL7B","BCOR","BCS1L","BICRA","BIRC3","BLM","BLNK","BMP1","BMP4","BMP6","BMPR1A","BPTF","BRAF","BRCA1","BRCA2","BRD4","BRF1","BRIP1","BSCL2","BSND","BTK","BTNL2","BUB1B","BUD23","C2orf69","C4A","CA12","CA2","CACNA1A","CACNA1B","CACNA1S","CACNA2D1","CAD","CALR","CAMK2B","CAMKMT","CARMIL2","CARS1","CARS2","CASK","CASP8","CASR","CASZ1","CAV1","CAVIN1","CBFB","CBL","CBS","CCDC47","CCDC8","CCND1","CCNQ","CCR1","CD19","CD244","CD247","CD3D","CD3E","CD3G","CD40LG","CD79A","CD79B","CD81","CD96","CDAN1","CDC45","CDC6","CDC73","CDH23","CDK10","CDK19","CDKL5","CDKN1A","CDKN1B","CDKN1C","CDKN2A","CDKN2B","CDKN2C","CDON","CDT1","CEACAM3","CEACAM6","CELF2","CENPE","CENPJ","CENPT","CEP152","CEP57","CERS3","CFTR","CHD7","CHEK2","CHRM3","CHRNA3","CHRNG","CIC","CIITA","CIT","CKAP2L","CLCA4","CLCN3","CLCNKA","CLCNKB","CLDN16","CLIP2","CLMP","CLTC","CLTCL1","CNKSR2","CNOT1","CNTN1","CNTNAP1","COA8","COG1","COG4","COG6","COG7","COG8","COL12A1","COL1A1","COL1A2","COL4A5","COL4A6","COL6A1","COL6A2","COL6A3","COL7A1","COMT","COPB2","COQ7","CORIN","COX10","COX20","COX4I1","COX4I2","COX5A","COX7B","CPLANE1","CPLX1","CPS1","CPSF3","CR2","CREB3L1","CREBBP","CRIPT","CRLF1","CRLS1","CSF2RA","CSF2RB","CSNK2A1","CSPP1","CTBP1","CTCF","CTLA4","CTNNB1","CTNS","CTRC","CUBN","CUL3","CUL4B","CUL7","CYB5A","CYB5R3","CYC1","CYFIP2","CYP11A1","CYP11B2","CYP17A1","CYP19A1","CYP24A1","CYP27B1","CYP2R1","CYP7B1","DACT1","DALRD3","DAXX","DCLRE1C","DCTN1","DCTN4","DDB2","DDOST","DDX3X","DEAF1","DEF6","DEGS1","DGAT1","DGUOK","DHCR24","DHCR7","DHDDS","DIAPH1","DIS3L2","DISP1","DKC1","DLD","DLK1","DLL1","DLL4","DLST","DMPK","DMXL2","DNA2","DNAJC13","DNAJC19","DNAJC21","DNAJC3","DNAJC30","DNASE2","DNM1","DNM1L","DNM2","DNMT3A","DNMT3B","DOCK6","DOLK","DPAGT1","DPM1","DPM2","DPP6","DPP9","DPYD","DSG1","DSP","DTYMK","DUSP6","DYM","DYNC2I1","DYNC2LI1","DYRK1A","EARS2","EBP","ECE1","EDN3","EDNRA","EDNRB","EEF1A2","EFL1","EGFR","EHHADH","EHMT1","EIF2AK3","EIF2S3","EIF4G1","EIF4H","EIF5A","ELAC2","ELF4","ELMO2","ELN","EMG1","EN1","ENPP1","EOGT","EP300","EPAS1","EPCAM","EPG5","EPRS1","ERAP1","ERBB2","ERBB3","ERCC1","ERCC2","ERCC3","ERCC4","ERCC5","ERCC6","ERCC8","ERMARD","ESR2","ETHE1","EVC","EVC2","EWSR1","EXOSC3","EXOSC8","EXOSC9","F5","FAH","FAM111A","FAM149B1","FAN1","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FARSB","FAS","FBN1","FBN2","FBXL4","FBXO28","FCGR2A","FDFT1","FDXR","FGD1","FGF12","FGF13","FGF17","FGF8","FGFR1","FGFRL1","FH","FIG4","FIP1L1","FKBP6","FLCN","FLI1","FLII","FLNA","FLT1","FMR1","FOCAD","FOS","FOXH1","FOXP1","FOXP3","FOXRED1","FTO","FUCA1","FUS","FUT8","FZD4","FZR1","G6PC3","GAA","GABBR2","GABRA2","GABRA3","GABRA5","GABRB2","GABRD","GABRG2","GALC","GALE","GALK1","GALM","GALT","GAS1","GATA1","GATA2","GATA4","GATA6","GATM","GBA1","GBE1","GCDH","GCK","GCLC","GDNF","GFAP","GGPS1","GHSR","GIGYF2","GIPC1","GJA1","GJA5","GJA8","GJB2","GJB3","GJB4","GJB6","GK","GLB1","GLI1","GLI2","GLUD1","GLYCTK","GMNN","GNAO1","GNB1","GNB2","GNPAT","GNPTAB","GNRH1","GNRHR","GOLGA2","GOT2","GP1BB","GPC3","GPD1","GPIHBP1","GPR161","GPR35","GPT2","GRB10","GRIA3","GRIA4","GRIN1","GRIN2A","GRIN2D","GRM7","GSTM3","GTF2E2","GTF2H5","GTF2I","GTF2IRD1","GTF2IRD2","GTPBP2","GTPBP3","GUF1","GYS2","H19","H3-3B","H4C5","HACD1","HADH","HADHA","HADHB","HAVCR2","HBA1","HBA2","HBB","HCCS","HCFC1","HCN1","HDAC8","HEATR3","HERC1","HERC2","HESX1","HEXB","HFE","HIBCH","HIKESHI","HIRA","HIVEP2","HLA-B","HLA-DPA1","HLA-DPB1","HLA-DQA1","HLA-DQB1","HLA-DRB1","HLCS","HMGA2","HMGCL","HMOX1","HNF1A","HNRNPH1","HNRNPH2","HNRNPK","HPD","HPDL","HRAS","HS6ST1","HSD11B2","HSD17B4","HSD3B2","HSD3B7","HSPG2","HTRA2","HTT","HUWE1","HYMAI","IARS1","ICOS","IDH1","IFIH1","IFNG","IFNGR1","IFT140","IGF1","IGF1R","IGF2","IGHM","IGHMBP2","IGLL1","IKBKB","IKBKG","IKZF1","IL10","IL12A","IL12A-AS1","IL12B","IL1RN","IL21","IL21R","IL23R","IL2RA","IL2RB","IL2RG","IL6","IL7R","INS","INSR","INTU","IPO8","IQSEC2","IRF2BP2","IRF4","IRF6","IRF8","ITCH","ITGA7","JAG1","JAGN1","JAK1","JAK2","JAK3","JMJD1C","JPH3","KANSL1","KARS1","KAT6B","KBTBD13","KCNA1","KCNA2","KCNA4","KCNAB2","KCNB1","KCNJ1","KCNJ11","KCNJ18","KCNJ6","KCNN4","KCNQ2","KCNT1","KDM5C","KDM6A","KDSR","KIAA0586","KIAA0753","KIF15","KIF1B","KIF22","KIF7","KISS1","KISS1R","KIT","KLF1","KLHL41","KLLN","KLRC4","KMT2A","KMT2C","KMT2D","KMT5B","KRAS","KRT1","KRT10","KRT14","KRT16","KRT17","KRT5","KRT6A","KRT6B","LAMA2","LAMA3","LAMB3","LAMC2","LARP7","LARS1","LARS2","LAT","LBR","LCK","LEMD3","LETM1","LGI3","LHX4","LIG3","LIG4","LIMK1","LINS1","LIPA","LMBRD1","LMNA","LMNB1","LONP1","LPIN2","LRBA","LRP12","LRP5","LRPPRC","LRRC8A","LRRK1","LRRK2","LTC4S","LUZP1","LYRM4","LYRM7","MAD2L2","MADD","MAFB","MAGEL2","MALT1","MAMLD1","MAP2K1","MAP2K2","MAP3K20","MAP3K7","MAPKAPK5","MARS1","MARS2","MAX","MBL2","MBTPS1","MBTPS2","MC2R","MCCC1","MCCC2","MCEE","MCM4","MCM5","MCM9","MCTP2","MDH2","MECP2","MECR","MED12","MED17","MEFV","MEG3","MEGF10","MEN1","METTL27","METTL5","MGAT2","MICOS13","MIF","MIPEP","MITF","MKKS","MKRN3","MLH1","MLH3","MLX","MLXIPL","MMAA","MMAB","MMACHC","MMADHC","MMP23B","MMUT","MPDU1","MPI","MPL","MPV17","MRAP","MRPL12","MRPL3","MRPS14","MRPS16","MRPS2","MRPS28","MRPS7","MS4A1","MSH2","MSH6","MSMO1","MST1","MSX1","MT-ATP6","MT-CO1","MT-CO2","MT-CO3","MT-CYB","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND5","MT-ND6","MT-TF","MT-TH","MT-TK","MT-TL1","MT-TN","MT-TQ","MT-TS1","MT-TS2","MT-TV","MT-TW","MTHFR","MTO1","MTR","MTRFR","MTRR","MTTP","MUSK","MVK","MYH3","MYH7","MYL11","MYL2","MYMK","MYMX","MYO5B","MYOD1","MYPN","NAB2","NABP1","NACC1","NADK2","NAGS","NALCN","NAT8L","NBN","NCAPD2","NCAPD3","NCAPG2","NCAPH","NCF1","NDN","NDP","NDUFA1","NDUFA11","NDUFA13","NDUFA2","NDUFA4","NDUFA6","NDUFA8","NDUFAF1","NDUFAF2","NDUFAF3","NDUFAF4","NDUFAF5","NDUFAF6","NDUFAF8","NDUFB10","NDUFB11","NDUFB3","NDUFB7","NDUFB8","NDUFB9","NDUFS1","NDUFS2","NDUFS3","NDUFS4","NDUFS6","NDUFS7","NDUFS8","NDUFV1","NDUFV2","NEB","NECAP1","NECTIN1","NEDD4L","NELFA","NEUROD2","NEUROG3","NEXMIF","NF1","NFASC","NFE2L2","NFIA","NFIX","NFKB1","NFKB2","NFKBIA","NFKBIL1","NFU1","NGLY1","NHLH2","NHLRC2","NIPAL4","NIPBL","NKX2-1","NKX3-2","NLRC4","NLRP1","NNT","NOD2","NODAL","NONO","NOS1","NOTCH1","NOTCH2","NOTCH2NLC","NPAP1","NPHS1","NPM1","NR0B1","NR1H4","NR3C2","NRCAM","NRTN","NSD2","NSDHL","NSF","NSMCE3","NSMF","NSRP1","NSUN2","NSUN3","NTRK2","NUBPL","NUDT2","NUMA1","NUP188","NUP214","NUP54","NUP62","NUP85","NUS1","OBSL1","OCA2","OCLN","OCRL","OFD1","OGDHL","ORAI1","ORC1","ORC4","ORC6","OSGEP","OTC","OTUD5","OTUD6B","OTULIN","P4HA2","PACS1","PACS2","PALB2","PALLD","PAM16","PANK2","PARN","PARS2","PAX2","PBX1","PCCA","PCCB","PCGF2","PCLO","PCNT","PCSK1","PDE6D","PDGFRB","PDHA1","PDHB","PDHX","PDPN","PDX1","PEPD","PERCC1","PET100","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PEX7","PGAP1","PGM3","PHGDH","PHKA2","PHKG2","PHOX2B","PIEZO2","PIGA","PIGB","PIGG","PIGP","PIGQ","PIK3C2A","PIK3CA","PIK3CD","PIK3R1","PKHD1","PKP1","PLAA","PLAG1","PLAGL1","PLCB1","PLCH1","PLK4","PLP1","PML","PMM2","PMPCB","PMS1","PMS2","PNKP","PNP","PNPLA1","PNPLA6","PNPO","PNPT1","POC1A","POGZ","POLA1","POLE","POLG","POLG2","POLR1A","POLR1B","POLR1C","POLR1D","POLR2A","POLR3A","POLR3K","POMC","POMP","POR","POU1F1","POU6F2","PPARG","PPFIBP1","PPM1B","PPP1CB","PPP1R15B","PPP2R3C","PPP3CA","PQBP1","PRDM16","PRDX1","PREPL","PRF1","PRKACA","PRKACB","PRKAR1A","PRKCD","PRKCZ","PRMT7","PRNP","PROK2","PROKR2","PRPS1","PRTN3","PSAP","PSAT1","PSMB10","PSMB4","PSMB8","PSMB9","PSMC1","PSMD12","PTCD3","PTCH1","PTDSS1","PTEN","PTF1A","PTH1R","PTPN11","PTPN2","PTPN22","PTRH2","PTS","PUF60","PUS1","PUS3","PUS7","PWAR1","PWRN1","PYCR1","PYCR2","PYGL","RAB33B","RAB3GAP1","RABL3","RAC2","RAD21","RAD51","RAD51C","RAG1","RAG2","RAI1","RAPSN","RARA","RARB","RARS2","RASGRP1","RB1","RBBP8","RBCK1","RBM10","RBPJ","RECQL4","RELB","RERE","REST","RET","RFC2","RFT1","RFWD3","RFX5","RFXANK","RFXAP","RHBDF2","RILPL1","RIN2","RIPK1","RIT1","RMRP","RNF13","RNF168","RNF2","RNU4ATAC","RNU7-1","ROBO1","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS6KA3","RPS7","RREB1","RRM2B","RTEL1","RTL1","RTTN","RUNX1","RYR1","RYR3","SALL1","SAMD9","SAR1B","SARS1","SARS2","SATB1","SBDS","SC5D","SCN1A","SCN1B","SCN2A","SCN3A","SCN8A","SCNN1A","SCNN1B","SCNN1G","SCO1","SDHA","SDHAF1","SDHAF2","SDHB","SDHC","SDHD","SDR9C7","SEC23B","SEC24C","SEC31A","SELENON","SEMA3C","SEMA3D","SEMA4A","SEMA4D","SERAC1","SERPINA1","SETBP1","SETD2","SFTPB","SFTPC","SGO1","SH2B1","SH3TC2","SHH","SHOC2","SHROOM4","SIGMAR1","SIK1","SIL1","SIM1","SIN3A","SIX2","SIX3","SKI","SKIC2","SKIC3","SLC10A2","SLC11A1","SLC12A1","SLC12A3","SLC12A5","SLC13A5","SLC16A2","SLC17A5","SLC1A2","SLC1A3","SLC22A4","SLC22A5","SLC25A11","SLC25A13","SLC25A15","SLC25A19","SLC25A21","SLC25A22","SLC25A24","SLC25A3","SLC25A4","SLC25A46","SLC26A2","SLC26A3","SLC26A9","SLC2A2","SLC2A3","SLC30A9","SLC32A1","SLC34A1","SLC34A2","SLC34A3","SLC35A2","SLC35C1","SLC37A4","SLC38A3","SLC39A13","SLC39A4","SLC39A7","SLC39A8","SLC3A1","SLC46A1","SLC4A1","SLC51A","SLC5A1","SLC6A14","SLC6A8","SLC7A7","SLC9A3","SLC9A6","SLX4","SMAD4","SMARCA2","SMARCAL1","SMARCC2","SMARCD2","SMC1A","SMC3","SMO","SMOC1","SMPD1","SNAP29","SNCA","SNIP1","SNORD115-1","SNORD116-1","SNRPN","SNX10","SON","SOX9","SP110","SPATA5","SPEN","SPG11","SPI1","SPINK1","SPINK5","SPOP","SPR","SPRTN","SPRY4","SPTBN1","SPTLC1","SRCAP","SRD5A3","SREBF1","SRP54","SRSF2","SSR4","ST3GAL5","STAG1","STAG2","STAMBP","STAR","STAT1","STAT3","STAT4","STAT5B","STAT6","STIL","STING1","STOX1","STRA6","STRADA","STT3A","STT3B","STUB1","STX1A","SUCLA2","SUCLG1","SUGCT","SULT2B1","SURF1","SYK","SYNE1","SYNGAP1","SYNJ1","SYT2","SZT2","TAC3","TACR3","TAF13","TAFAZZIN","TALDO1","TAOK1","TAPT1","TASP1","TBC1D23","TBC1D24","TBL1XR1","TBL2","TBR1","TBX1","TBX4","TCF3","TCF4","TCIRG1","TCN2","TCOF1","TCTN3","TDGF1","TERT","TET2","TFAM","TFRC","TGDS","TGFB1","TGFB3","TGFBR2","TGIF1","TGM1","THOC2","THPO","THRB","TIMM22","TIMM50","TIMMDC1","TINF2","TJP2","TK2","TKFC","TLK2","TLL1","TLR4","TMEM106B","TMEM126B","TMEM127","TMEM165","TMEM216","TMEM270","TMEM70","TMPRSS15","TNFRSF11B","TNFRSF13B","TNFRSF13C","TNFSF12","TNNT1","TNPO2","TOM1","TONSL","TOP3A","TOPORS","TP53","TP63","TPI1","TPM2","TPM3","TRAC","TRAIP","TRAK1","TRAPPC2","TRIM28","TRIM37","TRIM8","TRIO","TRIP13","TRIT1","TRMT1","TRMT10A","TRMT10C","TRMT5","TRPV4","TSHB","TSHR","TSR2","TTC26","TTN","TTR","TUBB4A","TWIST2","TWNK","TXNRD2","TYMP","TYMS","UBA2","UBA5","UBAC2","UBE2T","UBE3B","UBE4B","UBR1","UBTF","UFC1","UFD1","UMPS","UNC45A","UNC80","UPF3B","UQCC2","UQCRC2","UQCRFS1","USF3","USP7","VAC14","VARS2","VDR","VHL","VIPAS39","VPS13A","VPS13B","VPS33B","VPS35","VPS37A","VPS37D","VPS45","VPS51","VPS53","VRK1","WDR11","WDR26","WDR4","WDR62","WDR73","WNT2B","WNT7B","WRN","WT1","WWOX","XPA","XPC","XRCC2","XYLT2","YARS1","YARS2","YIPF5","YWHAG","YY1","YY1AP1","ZAP70","ZBTB16","ZEB2","ZFP57","ZIC2","ZIC3","ZMPSTE24","ZNF335","ZNF668","ZNF699","ZNFX1","ZNRF3","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CACHEXIA":{"collection":"C5:HPO","systematicName":"M36469","pmid":"","exactSource":"HP:0004326","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004326","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CACHEXIA","geneSymbols":["ACADM","AKT1","ALS2","ATR","ATRIP","BMPR1A","CALR","CENPE","CENPJ","CEP152","CFTR","CNTNAP1","CUL4B","DNA2","ERCC2","ERCC3","ERCC4","ERCC5","EWSR1","FOXP3","FUS","GALC","GBA1","GFAP","HSPG2","IRF4","JAK2","LIG3","LIPA","LMNA","LPIN2","MAFB","MECP2","MPL","NALCN","NBN","NDP","NUP85","PCNT","PLK4","POLG","PSAP","PTEN","RBBP8","RRM2B","SCNN1A","SCNN1B","SCNN1G","SIGMAR1","SLC6A8","SLC9A6","SPG11","SPTLC1","STUB1","SUCLA2","TET2","TGFB1","TRAIP","TRIM37","TRPV4","TYMP","UNC80","WT1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_VITREOUS_HUMOR_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M36470","pmid":"","exactSource":"HP:0004327","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004327","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_VITREOUS_HUMOR_MORPHOLOGY","geneSymbols":["ARL3","ARSK","ATOH7","BAP1","BCOR","BEST1","CAPN5","COL11A1","COL11A2","COL18A1","COL2A1","COL9A1","COL9A2","COL9A3","COX7B","CRB1","CRPPA","CTNNB1","CYSLTR2","ERBB3","FZD4","GNA11","GNAQ","HCCS","HLA-A","KCNJ13","LAMB2","LRP5","NDP","NDUFB11","NF2","NR2E3","P3H2","PAK2","PAX6","PROC","PRPF8","PRR12","RB1","RS1","SF3B1","SIX3","SMC5","TSPAN12","TTR","VCAN","ZNF408","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_ANTERIOR_EYE_SEGMENT_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M47093","pmid":"","exactSource":"HP:0004328","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004328","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ANTERIOR_EYE_SEGMENT_MORPHOLOGY","geneSymbols":["AAAS","AARS1","AASS","ABCA1","ABCA12","ABCA2","ABCA4","ABCB6","ABCD1","ABCG8","ABHD12","ABHD5","ACADS","ACTA2","ACTB","ACTG1","ADA2","ADAMTS10","ADAMTS17","ADAMTS18","ADAMTSL1","ADAMTSL4","ADAR","ADGRV1","ADNP","AEBP1","AFF4","AGA","AGBL1","AGBL5","AGK","AHI1","AHR","AIPL1","AIRE","AKT1","ALDH18A1","ALDH3A2","ALDH6A1","ALDOB","ALG2","ALG3","ALG8","ALMS1","ALOX12B","ALOXE3","ALX1","ALX3","AMACR","AMER1","AMMECR1","ANAPC1","ANK1","ANKRD11","ANKRD55","ANO1","ANO10","ANTXR1","AP1B1","AP1S1","AP3B1","AP3D1","APC","APC2","APOA1","APOA2","APOB","APOE","ARCN1","ARHGAP31","ARHGEF18","ARHGEF2","ARID1B","ARL13B","ARL2","ARL2BP","ARL3","ARL6","ARL6IP6","ARMC9","ARPC4","ARSB","ARSG","ARSL","ARVCF","ASAH1","ASH1L","ASPH","ATAD3A","ATOH7","ATP10A","ATP11A","ATP5F1A","ATP5F1D","ATP5F1E","ATP5MK","ATP6V1A","ATP6V1B2","ATP7B","ATP8A2","ATPAF1","ATPAF2","B3GALNT2","B3GALT6","B3GAT3","B3GLCT","B4GALNT1","B4GAT1","B9D1","B9D2","BAP1","BAZ1B","BBIP1","BBS1","BBS2","BBS9","BCAP31","BCL7B","BCOR","BCS1L","BDNF","BEST1","BFSP1","BFSP2","BLOC1S3","BLOC1S5","BLOC1S6","BLTP1","BMP4","BRCA1","BRCA2","BRCC3","BRD4","BRF1","BRIP1","BTNL2","BTRC","BUB1","BUB1B","BUB3","BUD23","C12orf57","C1QBP","C1QTNF5","C4A","CA4","CA8","CACNA1F","CAMK2B","CAMSAP1","CAMTA1","CANT1","CARS1","CASK","CASZ1","CAV1","CBS","CBY1","CC2D2A","CCDC22","CCDC28B","CCDC47","CCR1","CD247","CDH11","CDH2","CDH23","CDHR1","CDON","CENPF","CEP104","CEP120","CEP164","CEP290","CEP41","CEP57","CEP78","CERKL","CERS3","CFAP410","CFAP418","CHD3","CHD4","CHD7","CHMP1A","CHMP4B","CHN1","CHRDL1","CHST14","CHST3","CHST6","CHSY1","CHUK","CIB2","CLDN11","CLDN16","CLDN19","CLIP2","CLN3","CLPB","CLRN1","CLTCL1","CNBP","CNGA1","CNGA3","CNGB1","CNGB3","COG4","COL11A1","COL11A2","COL17A1","COL18A1","COL1A1","COL1A2","COL25A1","COL2A1","COL3A1","COL4A1","COL4A3","COL4A4","COL4A5","COL4A6","COL5A1","COL5A2","COL7A1","COL8A2","COL9A1","COL9A2","COL9A3","COLEC10","COLEC11","COMT","COPB1","COQ2","COQ6","COX7B","CPAMD8","CPLANE1","CPLX1","CPT2","CRB1","CREBBP","CRLF1","CRPPA","CRX","CRYAA","CRYAB","CRYBA1","CRYBA2","CRYBA4","CRYBB1","CRYBB2","CRYBB3","CRYGB","CRYGC","CRYGD","CRYGS","CSPP1","CTBP1","CTC1","CTCF","CTDP1","CTNNB1","CTNS","CTSA","CYP1B1","CYP27A1","CYP4V2","CYP7B1","CYSLTR2","DACT1","DAG1","DCN","DCT","DDB2","DDR2","DDX6","DEAF1","DGCR2","DGCR6","DGCR8","DGUOK","DHCR7","DHDDS","DHX38","DIS3L2","DISP1","DKC1","DLL1","DLL4","DLST","DLX5","DLX6","DMPK","DNAI1","DNAJC21","DNAJC30","DNM1L","DNMBP","DNMT1","DOCK6","DPAGT1","DPYD","DPYSL5","DSE","DSG4","DST","DTNBP1","DYM","DYNC2H1","DYNC2I1","DYNC2I2","DYRK1A","EBF3","EBP","EDC3","EDEM3","EDN3","EDNRB","EED","EFEMP1","EFEMP2","EHMT1","EIF2B2","EIF4H","ELMO2","ELN","ELP1","ELP4","EMC1","ENTPD1","EOGT","EP300","EPCAM","EPG5","EPHA2","EPHX2","EPS15L1","ERAP1","ERCC1","ERCC2","ERCC3","ERCC4","ERCC5","ERCC6","ERCC8","ERF","ESCO2","ESPN","ESS2","ETFA","ETFB","ETFDH","EXOSC2","EXOSC5","EYS","FAM111A","FAM111B","FAM161A","FAM50A","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FAR1","FAS","FBLN5","FBN1","FBN2","FBXL4","FBXW11","FBXW4","FBXW7","FDXR","FERMT1","FGD1","FGF10","FGF3","FGF5","FGF8","FGFR1","FGFR2","FGFR3","FGFRL1","FH","FIBP","FIG4","FKBP14","FKBP6","FKRP","FKTN","FLG","FLI1","FLII","FLNA","FLNB","FLVCR1","FOXC1","FOXC2","FOXE3","FOXH1","FOXL2","FRAS1","FSCN2","FTL","FUCA1","FUT8","FYCO1","FZD4","GABRD","GALK1","GALM","GALNS","GALNT2","GALT","GAS1","GATA1","GATAD2B","GBA1","GBA2","GCNT2","GDF3","GDF6","GEMIN4","GFAP","GFER","GHR","GJA1","GJA3","GJA5","GJA8","GJB2","GJB3","GJB4","GJB6","GLA","GLB1","GLI2","GLIS3","GLRB","GMPPA","GMPPB","GNA11","GNAQ","GNAS","GNB5","GNPAT","GNPTAB","GNPTG","GORAB","GP1BB","GPC3","GPR143","GRHL2","GRIA1","GSN","GSR","GTF2E2","GTF2H5","GTF2I","GTF2IRD1","GTF2IRD2","GTPBP2","GUCA1B","GUCY2D","GUSB","GZF1","H1-4","H19","HARS1","HCCS","HDAC4","HDAC8","HEATR3","HERC2","HEY2","HGSNAT","HHAT","HIRA","HK1","HLA-A","HLA-B","HLA-DRB1","HLCS","HMGB3","HMX1","HNRNPA1","HNRNPA2B1","HNRNPDL","HPS1","HPS4","HPS5","HPS6","HRAS","HS2ST1","HSF4","HSPA9","HSPG2","HTRA2","HYCC1","HYLS1","IARS2","IDH1","IDH3A","IDH3B","IDS","IDUA","IFIH1","IFNGR1","IFT140","IFT172","IFT74","IFT80","IFT88","IGBP1","IGF1R","IKBKG","IKZF1","IL10","IL12A","IL12A-AS1","IL23R","IL2RA","IL2RB","IL6ST","IMPDH1","IMPG1","IMPG2","INPP5E","INPP5K","INTS1","INVS","IQCB1","IQSEC2","ITM2B","ITPA","ITPR1","JAG1","JAM2","JAM3","JMJD1C","KANSL1","KAT6A","KATNIP","KCNA4","KCNAB2","KCNH1","KCNJ13","KCNMA1","KCNN3","KCNV2","KCTD1","KDM5B","KDM6A","KDSR","KERA","KIAA0586","KIAA0753","KIAA1549","KIDINS220","KIF11","KIF1B","KIF21A","KIFBP","KIT","KITLG","KIZ","KLHL7","KLLN","KLRC4","KMT2B","KMT2C","KMT2D","KRAS","KRT12","KRT14","KRT25","KRT3","KRT5","KRT71","KRT74","KRT81","KRT83","KRT86","LAMA3","LAMB1","LAMB2","LAMB3","LAMC2","LARGE1","LAS1L","LBR","LCA5","LCAT","LDHD","LDLR","LEMD2","LETM1","LIFR","LIG3","LIG4","LIM2","LIMK1","LIPC","LIPH","LMBRD2","LMNA","LMX1B","LONP1","LOX","LOXL1","LOXL3","LPAR6","LRAT","LRMDA","LRP2","LRP4","LRP5","LSM11","LSS","LTBP1","LTBP2","LUZP1","LYST","LZTR1","MAB21L1","MAB21L2","MAD2L2","MAF","MAFA","MAFB","MAG","MAGEL2","MAK","MAN2B1","MAP2K2","MAP3K7","MAPK1","MAPK8IP3","MAPKAPK5","MAPRE2","MARK3","MASP1","MAT2A","MAX","MBD5","MBTPS1","MBTPS2","MC1R","MCOLN1","MDH2","MECP2","MED11","MED12L","MED13L","MED25","MED27","MEFV","MEGF8","MERTK","METTL27","MFAP5","MFRP","MINPP1","MIP","MIPEP","MIR184","MIR204","MITF","MKRN3","MKS1","MLPH","MLXIPL","MMP1","MMP14","MMP2","MMP23B","MOCS1","MOCS2","MORC2","MPDZ","MPLKIP","MPV17","MPZ","MRPS28","MSH6","MSMO1","MT-ATP6","MT-ATP8","MT-CO1","MT-CO2","MT-CO3","MT-CYB","MT-ND1","MT-ND5","MT-ND6","MT-TC","MT-TE","MT-TF","MT-TK","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TV","MT-TW","MTAP","MTSS2","MTTP","MVK","MYH11","MYH9","MYLK","MYMK","MYO1H","MYO5A","MYO7A","MYOC","MYORG","MYSM1","NAA10","NACC1","NAGA","NAXD","NCAPG2","NCF1","NDN","NDP","NDUFB11","NEK2","NEK9","NELFA","NEU1","NEUROD2","NF1","NF2","NFIX","NGLY1","NHP2","NHS","NIPAL4","NIPBL","NLRP1","NLRP3","NMNAT1","NOD2","NODAL","NOG","NOP10","NOTCH1","NOTCH2","NOTCH3","NPAP1","NPHP1","NPHP3","NPHP4","NPM1","NR2E3","NR2F1","NRAS","NRCAM","NRL","NSD1","NSD2","NSUN2","NTRK1","NUP188","OAT","OCA2","OCLN","OCRL","OFD1","OPA1","OPA3","OPN1LW","OPN1MW","OTUD5","OTX2","OVOL2","P3H2","P4HTM","PACS2","PAH","PAK2","PALB2","PANK4","PARN","PAX2","PAX3","PAX6","PBX1","PCARE","PCDH15","PCSK9","PCYT1A","PDE4D","PDE6A","PDE6B","PDE6D","PDE6G","PDGFB","PDGFRB","PDPN","PDZD7","PDZD8","PERCC1","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PEX7","PGAP2","PGAP3","PHF6","PHGDH","PHOX2A","PHOX2B","PHYH","PIBF1","PIEZO2","PIGG","PIGL","PIGN","PIGO","PIGQ","PIGT","PIGV","PIGW","PIGY","PIK3C2A","PIK3CA","PIK3R1","PIKFYVE","PITX2","PITX3","PLCB3","PLCG2","PLEC","PLK4","PLOD1","PLOD3","PLXND1","PMM2","PMP22","PNPLA1","PNPLA6","PNPT1","POGZ","POLA1","POLG","POLG2","POLH","POLR1B","POLR1C","POLR1D","POLR3A","POLR3GL","POMGNT1","POMGNT2","POMK","POMT1","POMT2","PORCN","POU6F2","PPP1R12A","PPP1R17","PPP2CA","PPP2R5D","PQBP1","PRCD","PRDM12","PRDM16","PRDM5","PRDX3","PRG4","PRIM1","PRKAG2","PRKAR1A","PRKAR1B","PRKCZ","PRKG1","PRMT7","PROM1","PRPF3","PRPF31","PRPF4","PRPF6","PRPF8","PRPH2","PRR12","PRSS56","PRUNE1","PSAT1","PSMB8","PSMC3","PTCH1","PTCH2","PTEN","PTH","PTH1R","PTPN2","PTPN22","PUF60","PWAR1","PWRN1","PXDN","PYCR1","RAB18","RAB23","RAB27A","RAB3GAP1","RAB3GAP2","RAD21","RAD51","RAD51C","RAI1","RALGAPA1","RAX","RB1","RBM8A","RBP3","RBP4","RBPJ","RD3","RDH11","RDH12","RDH5","RECQL","RECQL4","REEP6","RERE","REST","RET","REV3L","RFC2","RFWD3","RGR","RHO","RHOA","RIC1","RIPK4","RLBP1","RLIM","RNASEH2A","RNASEH2B","RNASEH2C","RNF113A","RNF125","RNF13","RNF2","RNU4ATAC","RNU7-1","ROBO1","ROBO3","ROM1","ROR1","RP1","RP1L1","RP2","RP9","RPE65","RPGR","RPGRIP1","RPGRIP1L","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS6KA3","RPS7","RREB1","RRM2B","RS1","RSPO2","RTEL1","RTN4IP1","RXYLT1","SAG","SALL1","SALL2","SALL4","SAMHD1","SBF2","SC5D","SCAPER","SCARF2","SCN9A","SCUBE3","SDCCAG8","SDHA","SDHAF2","SDHB","SDHC","SDHD","SDR9C7","SEC23A","SEC23B","SEC24C","SEC31A","SEM1","SEMA3E","SEMA4A","SERPING1","SETBP1","SETD2","SETD5","SF3B1","SF3B2","SH3PXD2B","SH3TC2","SHH","SHOC2","SHROOM4","SIL1","SIN3A","SIPA1L3","SIX3","SIX6","SKI","SLC16A12","SLC20A2","SLC24A5","SLC25A11","SLC25A13","SLC25A24","SLC25A4","SLC29A3","SLC2A1","SLC2A10","SLC33A1","SLC35C1","SLC38A8","SLC39A4","SLC39A8","SLC40A1","SLC45A2","SLC4A11","SLC4A4","SLC7A14","SLF2","SLX4","SMAD2","SMAD3","SMAD4","SMARCAL1","SMARCB1","SMC1A","SMC3","SMC5","SMCHD1","SMG8","SMO","SMPX","SNAI2","SNORD115-1","SNORD116-1","SNRNP200","SNRPN","SOS1","SOS2","SOX10","SOX2","SPATA7","SPEN","SPINT2","SPRED1","SPRTN","SPTBN1","SPTLC1","SRCAP","SRD5A3","SREBF1","SRY","ST14","STAT4","STIM1","STS","STX16","STX1A","STXBP1","SUFU","SULT2B1","SUMF1","SUOX","TACSTD2","TAOK1","TAP1","TAP2","TAPBP","TARS1","TAT","TBC1D20","TBC1D24","TBC1D2B","TBC1D7","TBCE","TBCK","TBL1XR1","TBL2","TBR1","TBX1","TBX15","TBX2","TBX22","TCEAL1","TCF4","TCOF1","TCTN1","TCTN2","TCTN3","TDGF1","TDRD7","TEAD1","TEK","TELO2","TENM3","TERC","TERT","TFAP2A","TFE3","TGFB2","TGFB3","TGFBI","TGFBR1","TGFBR2","TGIF1","TGM1","TGM3","THSD4","TINF2","TKFC","TKT","TLR4","TMEM107","TMEM127","TMEM138","TMEM216","TMEM218","TMEM231","TMEM237","TMEM270","TMEM67","TMEM70","TMTC3","TNPO2","TOGARAM1","TONSL","TOPORS","TP63","TRAF3IP1","TRAPPC11","TRAPPC2","TREX1","TRIM28","TRIM37","TRIM44","TRIP13","TRPM3","TRPV3","TRPV4","TSPAN12","TSR2","TTC8","TUB","TUBA1A","TUBA3D","TUBB","TUBB2B","TUBB3","TUBB4B","TUBG1","TUBGCP6","TULP1","TWIST1","TWIST2","TWNK","TXNDC15","TYMS","TYR","TYRP1","UBA5","UBAC2","UBE2A","UBE2T","UBE3A","UBE3B","UBE4B","UBIAD1","UFD1","UNC45B","UROD","UROS","USB1","USF3","USH1C","USH1G","USH2A","USP45","USP9X","VAC14","VARS1","VCAN","VCP","VHL","VIM","VLDLR","VPS13B","VPS35L","VPS37D","VPS4A","VSX1","VSX2","WAC","WAS","WASHC5","WDR19","WDR35","WDR37","WDR45","WDR73","WDR81","WFS1","WHRN","WIPF1","WNT10B","WNT3","WRAP53","WRN","WT1","XPA","XPC","XPR1","XRCC2","XRCC4","XYLT2","YAP1","YY1","ZBTB20","ZBTB7A","ZEB1","ZEB2","ZFHX2","ZFHX4","ZIC2","ZMIZ1","ZMPSTE24","ZNF335","ZNF408","ZNF423","ZNF469","ZNF513","ZNF526"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_POSTERIOR_EYE_SEGMENT_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M47094","pmid":"","exactSource":"HP:0004329","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004329","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_POSTERIOR_EYE_SEGMENT_MORPHOLOGY","geneSymbols":["AAAS","AARS1","ABCA4","ABCB6","ABCC6","ABCC8","ABCG5","ABCG8","ABHD12","ACADS","ACBD5","ACD","ACER3","ACO2","ACOX1","ACTA2","ACTB","ACTG1","ACTL6B","ACVRL1","ADA2","ADAM22","ADAM9","ADAMTS18","ADAMTSL1","ADAMTSL4","ADAR","ADGRV1","AFF4","AFG3L2","AGBL5","AGTPBP1","AGXT","AHI1","AHR","AIFM1","AIPL1","AIRE","AKT1","AKT3","ALDH1A2","ALDH1A3","ALDH3A2","ALDH6A1","ALG12","ALG13","ALG3","ALG6","ALG8","ALMS1","ALPK1","AMACR","AMPD2","ANK1","ANKRD11","ANO10","ANTXR1","AP1S2","AP3B1","AP3B2","AP3D1","AP4M1","AP5Z1","APC","APOB","APOC2","APOE","APPL1","ARHGEF18","ARHGEF2","ARL13B","ARL2","ARL2BP","ARL3","ARL6","ARL6IP6","ARMC9","ARNT2","ARSA","ARSG","ARSK","ARSL","ARV1","ARVCF","ARX","ASAH1","ASB10","ASNS","ASPA","ASXL1","ATAD3A","ATCAY","ATF6","ATG7","ATIC","ATN1","ATOH7","ATP1A2","ATP1A3","ATP2B2","ATP5F1A","ATP5F1D","ATP5F1E","ATP5MK","ATP6V0A2","ATP6V1A","ATP6V1B2","ATP6V1E1","ATPAF1","ATPAF2","ATRX","ATXN1","ATXN2","ATXN7","AUH","B3GALNT2","B3GALT6","B3GLCT","B4GAT1","B9D1","B9D2","BANK1","BAP1","BAZ1B","BBIP1","BBS1","BBS10","BBS12","BBS2","BBS4","BBS5","BBS7","BBS9","BCAP31","BCL11A","BCL7B","BCOR","BCS1L","BEST1","BLK","BLM","BLOC1S3","BLOC1S5","BLOC1S6","BMP4","BOLA3","BRAF","BRAT1","BTD","BUD23","C12orf57","C19orf12","C1QTNF5","C2CD3","C4A","C4B","C9","CA2","CA4","CABP4","CACNA1A","CACNA1B","CACNA1C","CACNA1F","CACNA2D1","CACNA2D4","CAPN5","CARS1","CASK","CASR","CASZ1","CAV1","CBS","CC2D2A","CCDC103","CCDC22","CCDC28B","CCDC39","CCDC40","CCDC65","CCDC88A","CCM2","CCND1","CCNO","CCNQ","CCR1","CDC42","CDC42BPB","CDH11","CDH23","CDH3","CDHR1","CDK19","CDK4","CDKN2A","CDKN2B","CDON","CEL","CELF2","CENPF","CEP120","CEP164","CEP19","CEP290","CEP41","CEP78","CEP83","CEP85L","CERKL","CFAP221","CFAP298","CFAP300","CFAP410","CFAP418","CFAP74","CFH","CFHR1","CFHR3","CFI","CHD7","CHEK2","CHM","CHN1","CHRDL1","CHST14","CHST6","CHSY1","CIB2","CISD2","CKAP2L","CLCC1","CLCN2","CLCN3","CLCN7","CLCNKB","CLDN11","CLDN19","CLEC3B","CLIP2","CLN3","CLN5","CLN6","CLN8","CLP1","CLRN1","CLTC","CNGA1","CNGA3","CNGB1","CNGB3","CNKSR2","CNNM4","CNOT3","COA8","COG1","COG6","COL11A1","COL11A2","COL18A1","COL25A1","COL2A1","COL4A1","COL8A2","COL9A1","COL9A2","COL9A3","COMT","COQ2","COX15","COX7B","COX8A","CP","CPAMD8","CPLANE1","CPLX1","CPSF3","CR2","CRB1","CREBBP","CRLS1","CRPPA","CRX","CRYAB","CSF1R","CSPP1","CST3","CTBP1","CTC1","CTLA4","CTNNA1","CTNNA2","CTNNB1","CTNS","CTSA","CTSD","CWC27","CYFIP2","CYP1B1","CYP27A1","CYP4V2","CYP7B1","CYSLTR2","DACT1","DAG1","DALRD3","DARS1","DARS2","DCT","DDB2","DDHD2","DDR2","DDX11","DDX59","DEAF1","DENND5A","DGCR2","DGCR6","DGCR8","DGUOK","DHCR7","DHDDS","DHX16","DHX38","DIAPH1","DKC1","DLAT","DLK1","DLST","DNAAF1","DNAAF11","DNAAF2","DNAAF3","DNAAF4","DNAAF5","DNAAF6","DNAH1","DNAH11","DNAH5","DNAH9","DNAI1","DNAI2","DNAJB13","DNAJC19","DNAJC21","DNAJC30","DNAL1","DNASE1","DNM1","DNM1L","DNM2","DNMT1","DNMT3A","DNMT3B","DOCK6","DPAGT1","DPM1","DPM2","DPP6","DPYD","DPYSL5","DRAM2","DRC1","DSE","DST","DTNBP1","DUX4","DUX4L1","DYNC2H1","DYNC2I1","DYNC2I2","DYNC2LI1","DYRK1A","EBP","EDN3","EDNRB","EEF1A2","EFEMP1","EIF2B1","EIF2B2","EIF2B4","EIF4H","ELMO2","ELN","ELOVL1","ELOVL4","ELP1","ELP4","EMC1","ENG","ENPP1","EPAS1","EPCAM","EPG5","EPHA2","EPRS1","ERAP1","ERBB3","ERCC1","ERCC2","ERCC3","ERCC4","ERCC5","ERCC6","ERCC8","ERF","ESPN","ESS2","ETHE1","ETS1","EXOC2","EXOC8","EXOSC2","EXOSC3","EXOSC5","EXOSC8","EXOSC9","EYS","F12","FA2H","FAM111A","FAM161A","FANCB","FANCI","FAS","FBLN1","FBLN5","FBN1","FBN2","FBXO28","FCGR2B","FCGR3B","FCSK","FDFT1","FDX2","FDXR","FGF12","FGF13","FGF3","FGFR1","FGFR2","FGFR3","FH","FIBP","FKBP6","FKRP","FKTN","FLCN","FLII","FLNB","FLRT1","FLVCR1","FOXA2","FOXC1","FOXE3","FOXJ1","FOXRED1","FRG1","FRMPD4","FSCN2","FUCA1","FXN","FZD4","FZR1","G6PC1","GABBR2","GABRA2","GABRA5","GABRB2","GABRD","GABRG2","GALC","GALNT3","GAS2L2","GAS8","GATA2","GATA3","GATAD2B","GBA1","GCDH","GCK","GDF2","GDF3","GDF6","GEMIN4","GFM2","GFPT1","GGCX","GJA1","GJC2","GLA","GLB1","GLI2","GLRX5","GLYCTK","GM2A","GMPPA","GMPPB","GNA11","GNAQ","GNAT1","GNAT2","GNB3","GNB5","GNPAT","GNPTAB","GP1BA","GP1BB","GPAA1","GPIHBP1","GPR143","GPR161","GPR179","GRHL2","GRIA4","GRID2","GRIN2D","GRK1","GRM6","GRN","GSS","GTF2E2","GTF2H5","GTF2I","GTF2IRD1","GTF2IRD2","GTPBP2","GUCA1A","GUCA1B","GUCY2D","GZF1","HACE1","HADH","HADHA","HADHB","HARS1","HBB","HBG1","HBG2","HCCS","HCN1","HESX1","HEXA","HEXB","HGSNAT","HHAT","HID1","HIKESHI","HIRA","HK1","HKDC1","HLA-A","HLA-B","HLA-DPA1","HLA-DPB1","HLA-DRB1","HMCN1","HMGB3","HMX1","HNF1A","HNF4A","HNRNPH1","HNRNPK","HNRNPU","HPS1","HPS4","HPS5","HPS6","HSD11B2","HSD17B10","HSPD1","HSPG2","HTRA1","HUWE1","HYDIN","IBA57","IDH3A","IDH3B","IDS","IDUA","IER3IP1","IFNG","IFNGR1","IFT122","IFT140","IFT172","IFT27","IFT43","IFT52","IFT74","IFT80","IFT88","IGBP1","IGFBP7","IGHG1","IKBKG","IL10","IL11RA","IL12A","IL12A-AS1","IL12B","IL23R","IMPDH1","IMPG1","IMPG2","INPP5E","INPP5K","INS","INSR","INTS1","INTS8","INVS","IPO8","IQCB1","IQSEC2","IRAK1","IRF5","ISCA1","ISCA2","ITGAM","ITM2B","IVNS1ABP","JAG1","JAM3","JAZF1","JMJD1C","KANSL1","KAT6A","KATNB1","KCNA2","KCNAB2","KCNB1","KCNC3","KCNJ11","KCNJ13","KCNK4","KCNV2","KCTD7","KIAA0319L","KIAA0586","KIAA0753","KIAA1549","KIDINS220","KIF11","KIF14","KIF1A","KIF1B","KIF21A","KIF3B","KIF5A","KIF7","KIZ","KLC2","KLF1","KLF11","KLHL7","KLRC4","KMT2D","KNSTRN","KRAS","KRIT1","KRT25","KRT71","KRT74","L2HGDH","LAMA1","LAMB1","LAMB2","LARGE1","LCA5","LCK","LDLR","LDLRAP1","LETM1","LHX3","LHX4","LIG3","LIMK1","LIPH","LMNA","LOXL1","LOXL3","LPAR6","LPL","LRAT","LRIT3","LRP2","LRP4","LRP5","LRRC32","LRRC56","LTBP2","LUZP1","LYRM7","LYST","LZTFL1","MAB21L1","MACF1","MAF","MAFB","MAG","MAGEL2","MAK","MAN2B1","MAN2C1","MAP2K1","MAP2K2","MAPKAPK3","MAPKAPK5","MAPRE2","MAX","MBTPS2","MC1R","MCIDAS","MCOLN1","MDH2","MECP2","MECR","MED12","MEF2C","MEFV","MEG3","MERTK","METTL27","MFF","MFN2","MFRP","MFSD8","MGMT","MGP","MIA3","MICOS13","MICU1","MID2","MINPP1","MIR204","MITF","MKKS","MKS1","MLX","MLXIPL","MMACHC","MMP14","MMP19","MMP2","MMP23B","MMUT","MOGS","MORC2","MPDU1","MPDZ","MPLKIP","MRPS34","MSRB3","MSTO1","MT-ATP6","MT-ATP8","MT-CO1","MT-CO2","MT-CO3","MT-CYB","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND4L","MT-ND5","MT-ND6","MT-RNR1","MT-TE","MT-TF","MT-TH","MT-TK","MT-TL1","MT-TN","MT-TP","MT-TQ","MT-TS1","MT-TS2","MT-TV","MT-TW","MTFMT","MTHFR","MTO1","MTOR","MTPAP","MTRFR","MTSS2","MTTP","MUTYH","MVK","MYD88","MYO5A","MYO6","MYO7A","MYOC","NAA10","NADK2","NAGA","NALCN","NARS2","NBAS","NBN","NCAPG2","NCF1","NDE1","NDP","NDUFA1","NDUFA11","NDUFA13","NDUFA6","NDUFA9","NDUFAF1","NDUFAF2","NDUFAF3","NDUFAF4","NDUFAF5","NDUFAF8","NDUFB10","NDUFB11","NDUFB3","NDUFB9","NDUFC2","NDUFS1","NDUFS2","NDUFS3","NDUFS4","NDUFS6","NDUFS7","NDUFS8","NDUFV1","NDUFV2","NECAP1","NEDD4L","NEFL","NEK1","NEK10","NEK2","NEK8","NELFA","NEU1","NEUROD1","NF1","NF2","NFIX","NGLY1","NHS","NIPBL","NLRP3","NME5","NME8","NMNAT1","NOD2","NOTCH2NLC","NOTCH3","NPHP1","NPHP3","NPHP4","NR2E3","NR2F1","NR3C1","NRCAM","NRL","NSD2","NSMCE2","NT5C2","NTRK2","NUBPL","NUP54","NUP62","NUS1","NYX","OAT","OCA2","OCRL","ODAD1","ODAD2","ODAD3","ODAD4","OFD1","OGDHL","OPA1","OPA3","OPN1LW","OPN1MW","OPN1SW","OSTM1","OTUD5","OTX2","OVOL2","P3H2","P4HA2","P4HTM","PACS2","PAK2","PANK2","PARS2","PAX2","PAX3","PAX4","PAX6","PCARE","PCDH15","PCK1","PCLO","PCNA","PCSK9","PCYT1A","PCYT2","PDCD1","PDCD10","PDE6A","PDE6B","PDE6C","PDE6D","PDE6G","PDE6H","PDGFB","PDGFRB","PDHX","PDPN","PDSS1","PDX1","PDXK","PDZD7","PEPD","PERCC1","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PEX7","PGAP1","PGK1","PHOX2A","PHYH","PI4KA","PIBF1","PIEZO2","PIGB","PIGG","PIGL","PIGU","PIK3CA","PIK3CD","PISD","PITPNM3","PLA2G5","PLA2G6","PLAA","PLEKHM1","PLK4","PLOD1","PLP1","PLXNA1","PMM2","PMPCB","PNPLA6","POC1B","POGZ","POLG","POLG2","POLR3A","POLR3B","POLR3K","POMGNT1","POMGNT2","POMK","POMT1","POMT2","PORCN","POT1","POU1F1","POU3F4","PPP1CB","PPP1R21","PPP2R1A","PPP2R3C","PPP3CA","PPT1","PRCD","PRDM16","PRDM5","PRDX1","PRF1","PRICKLE3","PRKAR1A","PRKCZ","PRMT7","PROC","PROKR2","PROM1","PROP1","PRORP","PROS1","PRPF3","PRPF31","PRPF4","PRPF6","PRPF8","PRPH2","PRPS1","PRR12","PRSS56","PRTN3","PRUNE1","PSAP","PSMD12","PTCD3","PTCH1","PTEN","PTF1A","PTPN22","PTPN23","PUF60","PUS1","PXK","RAB11B","RAB18","RAB23","RAB28","RAB3GAP1","RAB3GAP2","RAI1","RAX","RAX2","RB1","RBL2","RBM10","RBP3","RBP4","RCBTB1","RD3","RDH11","RDH12","RDH5","RECQL4","REEP6","RELN","RERE","RET","RFC1","RFC2","RFX7","RGR","RGS9","RGS9BP","RHO","RHOA","RIMS1","RIMS2","RLBP1","RMRP","RNASEH1","RNF113A","RNF135","RNF170","RNF216","RNU4ATAC","RNU7-1","ROBO1","ROM1","RP1","RP1L1","RP2","RP9","RPE65","RPGR","RPGRIP1","RPGRIP1L","RPIA","RPL10","RPS6KA3","RREB1","RRM2B","RS1","RSPH1","RSPH3","RSPH4A","RSPH9","RSPO2","RTL1","RTN4IP1","RTTN","RXYLT1","SACS","SAG","SALL1","SALL2","SALL4","SAR1B","SARDH","SBDS","SBF2","SCAPER","SCLT1","SCN3A","SCN8A","SCYL1","SCYL2","SDCCAG8","SDHA","SDHAF1","SDHAF2","SDHB","SDHC","SDHD","SEC23A","SEC24C","SEC31A","SELENOI","SEMA3E","SEMA4A","SERAC1","SERPINC1","SETD2","SF3B1","SH2B1","SH3BP2","SH3TC2","SHH","SIL1","SIM1","SIX3","SIX6","SKI","SLC12A6","SLC13A5","SLC19A2","SLC1A2","SLC24A1","SLC24A5","SLC25A11","SLC25A15","SLC25A19","SLC25A46","SLC29A3","SLC30A9","SLC35A2","SLC37A4","SLC38A3","SLC38A8","SLC39A14","SLC44A1","SLC45A2","SLC4A2","SLC52A2","SLC6A6","SLC6A9","SLC7A14","SMAD4","SMARCB1","SMARCE1","SMC5","SMCHD1","SMG8","SMO","SMOC1","SMPD1","SNAP29","SNRNP200","SNX10","SON","SOST","SOX10","SOX2","SOX3","SOX5","SP7","SPAG1","SPATA7","SPEF2","SPEN","SPG11","SPG7","SPINT2","SPOP","SPP1","SPTBN1","SRD5A3","SSBP1","ST3GAL5","STAG2","STAMBP","STAT3","STAT4","STK36","STN1","STT3B","STUB1","STX1A","STX3","SUFU","SUMF1","SURF1","SYCE1","SYNE1","SYNGAP1","SYNJ1","SZT2","TACO1","TAF2","TANGO2","TARS1","TASP1","TBC1D20","TBC1D24","TBC1D2B","TBC1D7","TBCD","TBCE","TBL2","TBX1","TBX22","TCIRG1","TCTN1","TCTN2","TCTN3","TEAD1","TEK","TELO2","TENM3","TERC","TERF2IP","TERT","TFAP2A","TFG","TGFB1","THG1L","THSD1","TIMM50","TIMM8A","TIMMDC1","TIMP3","TINF2","TK2","TLCD3B","TLR4","TLR7","TMCO1","TMEM106B","TMEM107","TMEM126A","TMEM126B","TMEM127","TMEM138","TMEM216","TMEM218","TMEM222","TMEM231","TMEM237","TMEM270","TMEM53","TMEM63A","TMEM67","TMEM98","TMTC3","TNFAIP3","TNFRSF11A","TNFRSF11B","TNFSF11","TNFSF4","TNIP1","TOE1","TOPORS","TOR1A","TP53","TPI1","TPP1","TRAF3IP1","TRAF7","TRAK1","TRAPPC11","TRAPPC12","TRAPPC2","TRAPPC9","TREX1","TRIM32","TRIM37","TRIM44","TRIP13","TRIT1","TRNT1","TRPM1","TRPM3","TRRAP","TSC1","TSC2","TSEN54","TSFM","TSPAN12","TTC12","TTC21B","TTC8","TTLL5","TTPA","TTR","TUB","TUBA1A","TUBA8","TUBB","TUBB2B","TUBB3","TUBB4A","TUBB4B","TUBGCP2","TUBGCP4","TUBGCP6","TULP1","TWIST1","TWNK","TXN2","TXNDC15","TYR","TYRP1","UBA5","UBAC2","UBE2L3","UBE3B","UBE4B","UCHL1","UFD1","UGP2","UNC119","UQCRFS1","USH1C","USH1G","USH2A","USP45","USP48","USP8","VCAN","VHL","VPS11","VPS13B","VPS33A","VPS35L","VPS37D","VPS41","VPS4A","VPS53","VRK1","VSX1","WAC","WARS2","WASHC5","WDPCP","WDR11","WDR19","WDR4","WDR45","WDR73","WFS1","WHRN","WNT3","WRN","WT1","WWOX","XPA","XPC","XRCC4","XYLT1","XYLT2","YAP1","YARS1","YME1L1","YWHAG","ZEB1","ZEB2","ZFYVE26","ZIC1","ZMYND10","ZNF408","ZNF423","ZNF469","ZNF513","ZNF592","ZNF668","ZNHIT3","ZPR1","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INCREASED_SKULL_OSSIFICATION":{"collection":"C5:HPO","systematicName":"M36472","pmid":"","exactSource":"HP:0004330","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004330","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_SKULL_OSSIFICATION","geneSymbols":["CSF1R","HGSNAT","HHAT","NAGLU","OSTM1","RBL2","SGSH","VCP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DECREASED_SKULL_OSSIFICATION":{"collection":"C5:HPO","systematicName":"M45411","pmid":"","exactSource":"HP:0004331","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004331","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_SKULL_OSSIFICATION","geneSymbols":["ALG9","ALPL","ALX4","ANTXR1","BMPER","COL1A1","COL1A2","COL2A1","CREB3L1","CRTAP","EXT2","FAM111A","FGFR2","FIG4","HDAC6","IFT43","INTU","LAMA5","LBR","LMNA","MPL","NOTCH2","P3H1","PHF21A","PPIB","PPP3CA","RUNX2","SEC23A","SERPINH1","SLC25A19","SLC25A24","TAPT1","TBCE","THPO","TRIP11","TXNDC15","VAC14","WNT7A","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_LYMPHOCYTE_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M36474","pmid":"","exactSource":"HP:0004332","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004332","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LYMPHOCYTE_MORPHOLOGY","geneSymbols":["ACP5","ADA","ADA2","ADAMTS3","AGA","AK2","ALG12","AP1S3","AP3B1","ARHGEF1","ARPC1B","ATM","ATP11A","ATP6AP2","ATRX","B2M","BACH2","BCL10","BCL11B","BLM","BLNK","BRAF","BTK","BTNL2","CARD11","CARD9","CASP10","CASP8","CCBE1","CD19","CD247","CD28","CD3D","CD3E","CD3G","CD4","CD70","CD79A","CD79B","CD81","CD8A","CDCA7","CDH23","CHD7","CIITA","CLN3","CLN5","CLPB","CORO1A","CR2","CTLA4","CTNNBL1","CTPS1","CXCR4","CYBC1","DCLRE1B","DCLRE1C","DEF6","DIAPH1","DNMT3B","DOCK2","DOCK8","EIF2AK3","ELANE","ELF4","EPG5","EXTL3","FAS","FASLG","FAT4","FCGR3A","FCHO1","FNIP1","FOCAD","FOXN1","FOXP3","FUCA1","G6PC3","GATA2","GFI1","GINS1","GLB1","GTF2H5","HELLS","HLA-DPB1","HLA-DRB1","HYOU1","ICOS","IFIH1","IGHM","IGLL1","IKBKB","IKBKG","IKZF1","IKZF3","IL17RA","IL21","IL2RA","IL2RB","IL2RG","IL36RN","IL6R","IL6ST","IL7","IL7R","IRAK1","IRAK4","IRF2BP2","ITK","IVNS1ABP","JAK3","KLHDC8B","KNSTRN","KRAS","LAT","LBR","LCK","LCP2","LEP","LEPR","LIG1","LIG4","LMNB2","LRBA","LYST","MAGT1","MALT1","MAN2B1","MCM10","MCM4","MDM4","MGAT2","MS4A1","MSN","MTHFD1","MYC","MYD88","MYSM1","NAE1","NAF1","NBN","NCAPG2","NCKAP1L","NEU1","NFKB1","NFKB2","NFKBIA","NHEJ1","NLRC4","NR3C1","NRAS","NSMCE3","ORAI1","OTULIN","PGM3","PI4KA","PIK3CD","PIK3CG","PIK3R1","PLCG2","PNP","PNPLA2","POMP","PPT1","PRIM1","PRKCD","PRKDC","PSMB4","PSMB9","PTEN","PTPRC","RAC2","RAG1","RAG2","RASGRP1","REL","RELB","RFX5","RFXANK","RFXAP","RHOH","RIPK1","RMRP","RNASEH2B","RPA1","RRAS2","SAMD9","SASH3","SAT1","SGPL1","SH2D1A","SKIC2","SKIC3","SLC17A5","SLC39A7","SMARCAL1","SOCS1","SP110","SPI1","SPP1","SPRED2","SRP19","SRP54","STAT1","STAT2","STAT4","STIM1","STING1","STK4","STN1","SYK","TBX2","TCF3","TCIRG1","TCN2","TERC","TERT","TET2","TFR2","TINF2","TLR7","TLR8","TNFAIP3","TNFRSF13B","TNFRSF13C","TNFRSF1B","TNFRSF9","TNFSF12","TOM1","TP53","TPP2","TRNT1","TTC7A","TTI2","UNC119","USP48","USP8","WAS","WDR1","WIPF1","XIAP","XRCC4","ZAP70","ZBTB24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BONE_MARROW_FOAM_CELLS":{"collection":"C5:HPO","systematicName":"M36475","pmid":"","exactSource":"HP:0004333","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004333","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BONE_MARROW_FOAM_CELLS","geneSymbols":["LIPA","NEU1","NPC1","NPC2","SMPD1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DERMAL_ATROPHY":{"collection":"C5:HPO","systematicName":"M36476","pmid":"","exactSource":"HP:0004334","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004334","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DERMAL_ATROPHY","geneSymbols":["ABCC6","ACD","ADA2","ADAMTS2","AEBP1","AIP","ANAPC1","ARMC5","ATRX","B3GALT6","B4GALT7","BGN","BRAF","C1R","C1S","CARMIL2","CDH23","CDKN2A","CHST14","COL12A1","COL17A1","COL1A1","COL1A2","COL3A1","COL5A1","COL5A2","COL6A1","COL6A2","COL6A3","COL7A1","COPB1","COX7B","CTNNB1","CTSC","CUL4B","DDB2","DHCR24","DKC1","DLG4","DSE","DST","ENPP1","ERCC2","ERCC3","ERCC4","ERCC5","ERCC6","FBN1","FERMT1","FKBP14","GNAS","GSN","HCCS","IPO8","ITGB4","KLHL24","KRT14","KRT5","LAMA3","LAMB3","LAMC2","LMNA","LOX","LRP1","MGP","MMP1","NDUFB11","NR3C1","PARN","PDE11A","PDGFRB","PLEC","PLOD1","POLD1","POLH","PORCN","PRKAR1A","RECQL4","RTEL1","SLC39A13","SMAD2","SMAD3","SOX18","SPEN","TERC","TERT","TFAP2A","TGFB2","TGFBR1","TGFBR2","TINF2","TNXB","TP53","TP63","TWIST2","USB1","USP48","USP8","XPA","XPC","ZMPSTE24","ZNRF3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MYELIN_OUTFOLDINGS":{"collection":"C5:HPO","systematicName":"M45412","pmid":"","exactSource":"HP:0004336","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004336","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MYELIN_OUTFOLDINGS","geneSymbols":["MPZ","MTMR2","NEFL","PMP22","SBF1","SBF2","SOX10"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_AMINO_ACID_METABOLISM":{"collection":"C5:HPO","systematicName":"M36477","pmid":"","exactSource":"HP:0004337","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004337","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_AMINO_ACID_METABOLISM","geneSymbols":["AGA","CBS","ERCC2","ERCC3","ERCC4","ERCC5","SLC30A10","TAT"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CIRCULATING_AROMATIC_AMINO_ACID_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M36478","pmid":"","exactSource":"HP:0004338","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004338","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_AROMATIC_AMINO_ACID_CONCENTRATION","geneSymbols":["BCS1L","FAH","FTCD","GCH1","HPD","IMPDH2","KYNU","NR4A2","PAH","PCBD1","PNPO","PTS","QDPR","SLC25A13","SPR","TAT","TDO2","TFAM"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CIRCULATING_SULFUR_AMINO_ACID_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M36479","pmid":"","exactSource":"HP:0004339","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004339","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_SULFUR_AMINO_ACID_CONCENTRATION","geneSymbols":["AASS","ABCD4","ADK","AHCY","CBS","CD320","FAH","GNMT","GPHN","HCFC1","LMBRD1","MAT1A","MCEE","MMACHC","MMADHC","MTHFD1","MTHFR","MTR","MTRR","NFE2L2","PRDX1","SKIC3","SLC19A1","SLC25A13","TFAM"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_VITAMIN_B_METABOLISM":{"collection":"C5:HPO","systematicName":"M36480","pmid":"","exactSource":"HP:0004340","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004340","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_VITAMIN_B_METABOLISM","geneSymbols":["ABCD1","ABCD4","ACSF3","ALDH4A1","ALDH6A1","AMN","CASP10","CBLIF","CCND1","CD320","CUBN","DHFR","DLAT","FAS","FASLG","FTCD","GRM7","GUCY2C","HCFC1","HLA-DQA1","HLA-DQB1","LMBRD1","MMAA","MMAB","MMACHC","MMADHC","MMUT","MTHFD1","MTR","MTRR","OTUD5","PNPLA8","PRDX1","PRKCD","RASGRP1","RNF13","SIM1","SLC19A1","SLC46A1","SLC52A1","SPTBN1","SUCLA2","SUCLG1","TCN2","TTR","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_VITAMIN_B12_METABOLISM":{"collection":"C5:HPO","systematicName":"M36481","pmid":"","exactSource":"HP:0004341","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004341","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_VITAMIN_B12_METABOLISM","geneSymbols":["ABCD1","ABCD4","ACSF3","ALDH6A1","AMN","CASP10","CBLIF","CCND1","CD320","CUBN","FAS","FASLG","GRM7","GUCY2C","HCFC1","HLA-DQA1","HLA-DQB1","LMBRD1","MMAA","MMAB","MMACHC","MMADHC","MMUT","MTHFD1","MTR","MTRR","PRDX1","PRKCD","RASGRP1","RNF13","SLC19A1","SUCLA2","SUCLG1","TCN2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_GLYCOSPHINGOLIPID_METABOLISM":{"collection":"C5:HPO","systematicName":"M45413","pmid":"","exactSource":"HP:0004343","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004343","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_GLYCOSPHINGOLIPID_METABOLISM","geneSymbols":["ARSA","GLA","GM2A","HEXA","HEXB","MCOLN1","PSAP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_WEAKNESS_OF_MUSCLES_OF_RESPIRATION":{"collection":"C5:HPO","systematicName":"M36483","pmid":"","exactSource":"HP:0004347","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004347","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WEAKNESS_OF_MUSCLES_OF_RESPIRATION","geneSymbols":["ACOX1","ACTA1","AGRN","AGTPBP1","AIFM1","ALAD","ASAH1","BICD2","BIN1","CACNA1S","CCDC174","CFL2","CHAT","CHRNA1","CHRNE","CNTN1","COA8","COL12A1","COL13A1","COL25A1","COL6A1","COL6A2","COL6A3","COLQ","CPOX","CRYAB","DES","DMD","DNM2","DOK7","DYM","DYSF","EMD","ERBB4","ERGIC1","FHL1","FLNC","GAA","GABRA3","GFPT1","GIPC1","GLE1","HACD1","HMBS","HNRNPA1","HNRNPA2B1","ITGA7","KBTBD13","KCNE3","KCNJ18","KLHL41","LAMA2","LMNA","LMOD3","LRP12","MAP3K20","MATR3","MB","MFN2","MGME1","MORC2","MPZ","MT-TL1","MT-TL2","MT-TN","MT-TS1","MTMR14","MYF6","MYH7","MYL1","MYL2","MYO9A","MYOT","MYPN","NEB","NOTCH2NLC","ORAI1","PAX7","PLEKHG5","POLG","POMK","PPOX","RILPL1","RNASEH1","RRM2B","RYR1","SCN4A","SCYL2","SELENON","SLC18A3","SLC25A1","SLC25A4","SLC5A7","SMPX","SNAP25","SPG11","SUCLA2","SURF1","SYNE1","SYNE2","SYT2","TARDBP","TK2","TMEM43","TNNT1","TNPO3","TPI1","TPM2","TPM3","TRIP4","TTN","UBA1","VAMP1","VCP","YARS2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_BONE_MINERAL_DENSITY":{"collection":"C5:HPO","systematicName":"M36484","pmid":"","exactSource":"HP:0004348","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004348","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_BONE_MINERAL_DENSITY","geneSymbols":["AARS1","ABCC6","ABCC9","ACP5","ADAMTS2","ADAMTSL2","ADCY10","AEBP1","AFF3","AGK","AGXT","AIFM1","AIP","AKR1D1","ALB","ALDH18A1","ALG3","ALPL","AMER1","ANAPC1","ANKH","ANO5","ANOS1","ANTXR2","AP1S2","AP2S1","ARL6IP6","ARMC5","ASAH1","ASXL1","ASXL2","ATP6V0A1","ATP6V0A2","ATP6V0A4","ATP7A","ATP7B","ATP8B1","ATRX","AVP","B3GALT6","B3GAT3","B4GALT7","BAAT","BANF1","BAZ1B","BCL7B","BMP1","BMP15","BMP2","BMP6","BMS1","BNC1","BRAF","BRCA1","BRCA2","BRIP1","BUD23","CA2","CALCR","CANT1","CARS1","CASR","CAVIN1","CBFB","CBL","CBS","CCDC134","CCDC141","CCN6","CCND1","CDC73","CDH23","CDKN1A","CDKN1B","CDKN1C","CDKN2B","CDKN2C","CEACAM3","CEACAM6","CEP164","CEP290","CFTR","CHD7","CHST3","CLCA4","CLCN5","CLCN7","CLIP2","CLPB","COG1","COL1A1","COL1A2","COL2A1","COL5A1","COL5A2","COL7A1","COPB2","COX4I2","CPLX1","CREB3L1","CRIPT","CRTAP","CSF1R","CTBP1","CTC1","CTCF","CTDP1","CTNNB1","CTNND2","CTNS","CTSK","CYB5A","CYP11A1","CYP17A1","CYP19A1","CYP27A1","CYP27B1","CYP2R1","CYP3A4","DCAF17","DCC","DCHS1","DCTN4","DDOST","DDRGK1","DHCR24","DHX37","DKC1","DKK1","DLK1","DLL4","DLX3","DMP1","DMRT3","DNAJC21","DNAJC30","DPAGT1","DPM2","DUSP6","DVL1","EBP","EDNRA","EED","EFL1","EHHADH","EIF2AK3","EIF4H","ELANE","ELN","ENPP1","ERCC2","ERCC3","ERCC4","ERCC6","ERCC8","ESR1","ESR2","EXT2","FAH","FAM111A","FAM20C","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FARSB","FAT4","FBLN5","FBN1","FBN2","FERMT3","FEZF1","FGF17","FGF23","FGF8","FGFR1","FGFR2","FKBP10","FKBP14","FKBP6","FLNA","FLRT3","FN1","FOXA2","FSHR","FUT8","FZD4","G6PC1","GALNS","GALT","GATA1","GATA4","GATM","GBA1","GCLC","GCM2","GEMIN4","GET4","GFI1","GJA1","GK","GLA","GLB1","GLI2","GLIS3","GNA11","GNAS","GNPAT","GNPTAB","GNRH1","GNRHR","GORAB","GPAA1","GPR35","GSTM3","GTF2E2","GTF2H5","GTF2I","GTF2IRD1","GTF2IRD2","HAMP","HBB","HECW2","HERC2","HESX1","HFE","HGD","HGSNAT","HHAT","HJV","HLA-DQA1","HLA-DQB1","HMGA2","HMOX1","HNF4A","HNRNPH1","HNRNPK","HPGD","HRAS","HS6ST1","HSD17B4","HSD3B7","HSPG2","HTRA1","IARS2","IER3IP1","IFIH1","IFITM5","IFT122","IFT140","IFT43","IFT52","IGF1","IKBKG","IL12A","IL12RB1","IL17RD","IL1RN","IL6ST","INVS","IQCB1","IRF5","IRX5","ITGB4","KARS1","KCNJ1","KCNJ8","KCNN4","KDELR2","KIF1A","KISS1","KISS1R","KIT","KL","KNSTRN","KRAS","LAMA3","LAMA5","LAMB3","LAMC2","LARS2","LBR","LEMD2","LEMD3","LETM1","LHX4","LIFR","LIMK1","LMNA","LMX1B","LPIN2","LRP4","LRP5","LRP6","LRRK1","LTBP4","MAD2L2","MAFB","MAGEL2","MALT1","MAN2B1","MAP2K1","MAP3K1","MAP3K7","MBTPS1","MBTPS2","MC4R","MDM4","MED12","MEG3","MEN1","METTL27","MGAT2","MIA3","MIF","MITF","MKRN3","MLXIPL","MMEL1","MMP1","MMP13","MMP14","MMP2","MPLKIP","MRPS22","MSH4","MST1","MTAP","MTRR","MTTP","MTX2","NAA20","NAB2","NAE1","NAF1","NAGA","NAGLU","NCF1","NDN","NDNF","NDP","NDUFAF1","NDUFAF6","NELFA","NF1","NFATC2","NFIX","NFKBIA","NGLY1","NHERF1","NHLH2","NHP2","NLRP3","NOP10","NOTCH2","NOTCH3","NPAP1","NPHP1","NPHP3","NPHP4","NPM1","NPR2","NR0B1","NR3C1","NR5A1","NRAS","NSD2","NSMF","NUP107","OCA2","OCRL","OFD1","OSTM1","OTX2","P3H1","P4HB","PALB2","PAPPA2","PARN","PCCA","PCCB","PDE11A","PDGFRB","PDLIM4","PEPD","PEX12","PHEX","PHKA2","PHKB","PHKG2","PIGG","PIGT","PIGU","PIGY","PIK3CD","PLEC","PLEKHM1","PLOD1","PLOD2","PLOD3","PMM2","POC1A","POF1B","POLD1","POLE","POLG","POLG2","POLR1B","POLR1C","POLR1D","POLR3A","POLR3H","POLRMT","POU1F1","POU2AF1","PRDM5","PRG4","PRKACA","PRKAR1A","PRLR","PROK2","PROKR2","PROP1","PSAP","PSMC3IP","PTDSS1","PTEN","PTH1R","PWAR1","PWRN1","PYCR1","PYGL","RAB3GAP1","RAD51","RAD51C","RBL2","RECQL4","RETREG1","RFC2","RFWD3","RIGI","RIN2","RNF113A","RNF125","RNU4ATAC","RNU7-1","RPL10","RPL11","RRM2B","RSPRY1","RTEL1","RTL1","RUNX1","RUNX2","SATB2","SBDS","SC5D","SCARB2","SCN4A","SCN9A","SDCCAG8","SEC23A","SEC24D","SEMA3A","SEMA3E","SEMA4D","SEMA5A","SERPINA1","SERPINH1","SETBP1","SFRP4","SGMS2","SGSH","SH3PXD2B","SIK3","SIM1","SKI","SLC10A1","SLC11A1","SLC12A1","SLC17A5","SLC25A19","SLC25A4","SLC26A2","SLC26A9","SLC29A3","SLC2A2","SLC34A1","SLC34A2","SLC34A3","SLC35A2","SLC37A4","SLC39A13","SLC39A14","SLC39A8","SLC4A1","SLC4A2","SLC6A14","SLC7A7","SLC9A3","SLCO2A1","SLX4","SMAD3","SMARCAL1","SMARCD2","SMPD1","SMS","SNORD115-1","SNORD116-1","SNRPN","SNX10","SOST","SOX10","SOX3","SOX9","SP7","SPARC","SPIB","SPIDR","SPRTN","SPRY4","SQSTM1","SRC","SRCAP","SRP19","SRP54","SRSF2","SRY","STAT1","STAT3","STAT6","STN1","STX16","STX1A","STX3","SYK","TAC3","TACR3","TAF1","TAPT1","TARS1","TBCE","TBCK","TBL2","TBXAS1","TCF12","TCF4","TCIRG1","TCOF1","TENT5A","TERC","TERT","TET2","TGFB1","TGFBR2","TINF2","TJP2","TMEM165","TMEM270","TMEM38B","TMEM53","TMEM67","TNFRSF11A","TNFRSF11B","TNFSF11","TNFSF15","TNNC2","TNPO3","TOM1","TONSL","TP53","TRAF3IP1","TRAPPC2","TREM2","TRIP11","TRMT10A","TRPS1","TRPV6","TSPAN12","TTC26","TWNK","TYMS","TYROBP","UBA2","UBE2T","UFSP2","UNC45A","UNC80","UROD","UROS","USB1","USP48","USP8","USP9X","VAMP7","VCP","VDR","VPS37D","VPS53","WDR11","WDR19","WDR35","WNK1","WNT1","WNT3A","WRAP53","WRN","WT1","WWOX","XRCC2","XYLT2","ZBTB20","ZFPM2","ZMPSTE24","ZNF408","ZNF469","ZNF668","ZNF699","ZSWIM7"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CIRCULATING_CARBOXYLIC_ACID_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M36486","pmid":"","exactSource":"HP:0004354","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004354","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_CARBOXYLIC_ACID_CONCENTRATION","geneSymbols":["AASS","ABCB11","ABCB4","ABCC2","ABCD3","ABCD4","ACAD8","ACAD9","ACADM","ACADS","ACSF3","ADK","AHCY","AKR1D1","ALDH18A1","ALDH4A1","ALDH5A1","ALDH6A1","ALDH7A1","ALDOA","ALDOB","AMACR","AMT","ANK1","AP1B1","APP","ARG1","ASL","ASNS","ASPA","ASS1","ATP5F1A","ATP5F1B","ATP5F1D","ATP5F1E","ATP5MK","ATP7B","ATP8B1","ATPAF1","ATPAF2","BAAT","BCAT2","BCKDHA","BCKDHB","BCKDK","BCS1L","BLVRA","BOLA3","CA5A","CASK","CBS","CCDC47","CD320","CDAN1","COL7A1","COQ9","COX10","COX16","COX5A","COX6B1","COX8A","CPOX","CPS1","CPT2","CTH","CYP7B1","DBT","DCDC2","DGUOK","DLD","DMGDH","DNAJC19","DNAJC21","DNM1L","DTYMK","DUOX2","DUOXA2","DZIP1L","EFL1","EHHADH","EIF2AK3","EPB41","EPB42","ETFA","ETFB","ETFDH","ETHE1","FAH","FARSB","FBP1","FBXL4","FDFT1","FH","FOCAD","FTCD","G6PD","GALT","GAMT","GATA1","GATM","GCDH","GCH1","GLDC","GLRX5","GLS","GLUL","GLYCTK","GNMT","GPHN","GPX1","GSR","GUCY2D","GYPC","HADH","HADHA","HAL","HBB","HCFC1","HK1","HPD","HS6ST2","HSD17B10","HSD3B7","IARS1","IBA57","IDH2","IGF1","IL12A","IL12RB1","IMPDH2","IRF5","IRF6","IYD","KARS1","KCNN4","KIF12","KIF23","KLF1","KMT2D","KYNU","L2HGDH","LBR","LIG3","LIPT1","LIPT2","LMBRD1","LRP5","LYRM7","MAT1A","MCCC1","MCCC2","MCEE","MDH1","MED12","MICOS13","MICU1","MIPEP","MMAA","MMAB","MMACHC","MMADHC","MMEL1","MMP1","MMUT","MPO","MRM2","MRPL3","MRPS14","MRPS2","MT-ATP6","MT-ATP8","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND5","MT-ND6","MT-TE","MT-TK","MT-TL1","MT-TV","MT-TW","MTHFD1","MTHFR","MTO1","MTR","MTRR","MTTP","MYO5B","NAA10","NADK2","NAGS","NDUFA13","NDUFAF6","NDUFB10","NDUFC2","NDUFS4","NFE2L2","NFS1","NFU1","NGLY1","NHLRC2","NOS3","NR1H4","NR4A2","OAT","ODC1","OSTM1","OTC","OTX2","PAFAH1B1","PAH","PAX8","PC","PCBD1","PCCA","PCCB","PCK1","PDHA1","PDHX","PDP1","PET117","PEX14","PEX19","PEX2","PEX26","PFKM","PGK1","PHGDH","PIEZO1","PIGA","PKHD1","PKLR","PLAU","PNPLA6","PNPO","POLG","POLG2","POMC","POU2AF1","PPM1K","PRDX1","PRF1","PRKCSH","PRODH","PSAT1","PSPH","PTS","QDPR","RACGAP1","RFX6","RHAG","RHCE","RHD","RNU4ATAC","ROBO1","RRM2B","SARDH","SBDS","SC5D","SCO1","SEC63","SEMA7A","SERAC1","SKIC3","SLC10A1","SLC17A5","SLC19A1","SLC25A13","SLC25A15","SLC25A20","SLC25A4","SLC2A1","SLC2A2","SLC30A10","SLC34A1","SLC35A2","SLC36A2","SLC4A1","SLC51A","SLC51B","SLC52A1","SLC5A5","SLC6A18","SLC6A19","SLC6A20","SLC6A3","SLC7A7","SLCO1B1","SLCO1B3","SPIB","SPR","SPTA1","SPTB","SPTBN1","SRP54","SUCLA2","SUCLG1","SUGCT","TALDO1","TANGO2","TARS2","TAT","TCEAL1","TDO2","TFAM","TG","TJP2","TMEM126B","TMEM67","TMEM70","TNFRSF11B","TNFSF15","TNPO3","TPO","TRMT10C","TRMU","TSHB","TSHR","TTC26","TYMP","UBE2A","UBR1","UGT1A1","UNC45A","UPB1","UQCRC2","UROC1","UROS","USP53","VARS2","VIPAS39","VPS33B","VPS50","WDR35","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_LYSOSOMAL_METABOLISM":{"collection":"C5:HPO","systematicName":"M36487","pmid":"","exactSource":"HP:0004356","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004356","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_LYSOSOMAL_METABOLISM","geneSymbols":["ASAH1","CA2","CLCN7","GNPTAB","LRP5","OCRL","PSAP","TNFRSF11B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CIRCULATING_LEUCINE_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M47095","pmid":"","exactSource":"HP:0004357","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004357","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_LEUCINE_CONCENTRATION","geneSymbols":["ATP5F1B","BCAT2","MCCC1","MCCC2","PPM1K"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_SUPEROXIDE_METABOLISM":{"collection":"C5:HPO","systematicName":"M47096","pmid":"","exactSource":"HP:0004358","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004358","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_SUPEROXIDE_METABOLISM","geneSymbols":["CYBA","CYBB","NADK2","NCF1","NCF2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CIRCULATING_FATTY_ACID_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M36488","pmid":"","exactSource":"HP:0004359","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004359","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_FATTY_ACID_CONCENTRATION","geneSymbols":["ABCC8","ABCD1","ABCD4","ACAD8","ACAD9","ACADM","ACADS","ACADVL","AKT2","AMACR","AP1S1","BCAP31","COL7A1","COX16","CPT2","DLD","DNM1L","DOLK","EHHADH","ETHE1","GATM","GLYCTK","HADH","HADHA","HNF1A","HNF4A","HSD17B4","KCNJ1","KCNJ11","LMBRD1","LTC4S","LYRM7","MCEE","MMACHC","MMP1","MT-TE","NADK2","NDUFAF6","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PEX7","PHYH","PLA2G4A","REPS1","SCO1","SCP2","SLC12A1","SLC25A20","SLC34A1","SLC52A1","TANGO2","TRMU","UCP2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_ACID_BASE_HOMEOSTASIS":{"collection":"C5:HPO","systematicName":"M36489","pmid":"","exactSource":"HP:0004360","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004360","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_ACID_BASE_HOMEOSTASIS","geneSymbols":["AARS2","ABCC8","ABCD4","ACAD9","ACADM","ACADS","ACADVL","ACAT1","ACAT2","ACSF3","ADAMTS13","AGK","AGXT","AIFM1","AIP","ALDH6A1","ALDH7A1","ALDOB","AMPD1","AMPD2","AMPD3","APPL1","APRT","ASL","ASS1","ATAD3A","ATP5F1A","ATP5F1D","ATP5F1E","ATP5MK","ATP6V0A4","ATP6V1B1","ATPAF1","ATPAF2","AUH","BCKDHA","BCKDHB","BCS1L","BLK","BOLA3","BSND","BTD","C1QBP","CA2","CA5A","CACNA1D","CACNA1S","CAD","CAMKMT","CARS2","CD320","CDK5","CEL","CHCHD10","CIDEC","CLCN2","CLCNKA","CLCNKB","CLDN16","CLMP","CLPB","COA6","COA8","COQ2","COQ4","COQ8A","COQ9","COX10","COX11","COX14","COX15","COX16","COX20","COX4I1","COX5A","COX6A2","COX6B1","COX8A","CPS1","CPT1A","CPT2","CRAT","CTNS","CUL3","CYC1","CYP11A1","CYP17A1","CYP27A1","DARS2","DBT","DEF6","DGUOK","DLAT","DLD","DNAJC19","DNM1L","DPYS","DTYMK","EARS2","ECHS1","EHHADH","EIF2AK3","ELAC2","EPG5","ERCC6","ETFA","ETFB","ETFDH","ETHE1","FAH","FARS2","FASTKD2","FBP1","FBXL4","FDX2","FH","FOCAD","FOXRED1","G6PC1","GALT","GATA3","GATB","GATC","GATM","GCDH","GCK","GFER","GFM1","GFM2","GK","GLRX5","GLYCTK","GOT2","GSS","GTPBP3","GYS2","HADH","HADHA","HADHB","HCFC1","HIBCH","HLA-B","HLCS","HMGCL","HNF1A","HNF1B","HNF4A","HPD","HPDL","HS6ST2","HSD11B2","HSD17B10","HSPD1","HTRA2","HYMAI","IBA57","IDH2","IKZF1","IL6","INS","INSR","INVS","ISCA1","ISCU","ITGA3","ITPR3","IVD","JAG1","KARS1","KCNJ1","KCNJ10","KCNJ11","KCNJ16","KCNJ5","KLF11","KLHL3","KYNU","L2HGDH","LARS1","LARS2","LCT","LDHA","LETM1","LIAS","LIG3","LIPT1","LIPT2","LMBRD1","LONP1","LRPPRC","LYRM4","LYRM7","MARS1","MCCC1","MCCC2","MCEE","MDH2","MECP2","MICOS13","MIPEP","MLYCD","MMAA","MMAB","MMACHC","MMADHC","MMUT","MPC1","MPV17","MRM2","MRPL12","MRPL3","MRPL44","MRPS14","MRPS16","MRPS2","MRPS22","MRPS28","MRPS34","MRPS7","MT-ATP6","MT-ATP8","MT-CO1","MT-CO2","MT-CO3","MT-CYB","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND5","MT-ND6","MT-TC","MT-TE","MT-TF","MT-TH","MT-TI","MT-TK","MT-TL1","MT-TL2","MT-TN","MT-TP","MT-TQ","MT-TS1","MT-TS2","MT-TT","MT-TV","MT-TW","MTFMT","MTO1","MTR","MTRFR","MTRR","MYO5B","NADK2","NARS2","NAXD","NAXE","NDUFA1","NDUFA10","NDUFA11","NDUFA12","NDUFA13","NDUFA2","NDUFA4","NDUFA6","NDUFA8","NDUFA9","NDUFAF1","NDUFAF2","NDUFAF3","NDUFAF4","NDUFAF5","NDUFAF6","NDUFAF8","NDUFB10","NDUFB11","NDUFB3","NDUFB7","NDUFB8","NDUFB9","NDUFC2","NDUFS1","NDUFS2","NDUFS3","NDUFS4","NDUFS6","NDUFS7","NDUFS8","NDUFV1","NDUFV2","NEUROD1","NEUROG3","NFS1","NFU1","NGLY1","NOTCH2","NR3C1","NR3C2","NSUN3","NUBPL","OCRL","OGDH","OTC","OXCT1","PAH","PAX2","PAX4","PBX1","PC","PCCA","PCCB","PCK1","PDHA1","PDHB","PDHX","PDP1","PDSS1","PDSS2","PDX1","PET100","PET117","PHKA2","PHKB","PHKG2","PIGA","PITRM1","PLAGL1","PLPBP","PLVAP","PMPCA","PMPCB","PNPLA8","PNPO","PNPT1","POLG","POLG2","POLRMT","PPA2","PPCS","PPM1B","PRDX1","PREPL","PRORP","PRSS12","PTPN22","PUS1","PYGL","QRSL1","RARS1","RARS2","RBCK1","RMND1","RNASEH1","RRAGD","RRM2B","RYR1","SARS2","SCNN1A","SCNN1B","SCNN1G","SCO1","SCO2","SDHA","SDHB","SDHD","SERAC1","SFXN4","SHOX","SLC12A1","SLC12A3","SLC16A1","SLC25A10","SLC25A12","SLC25A13","SLC25A15","SLC25A19","SLC25A26","SLC25A3","SLC25A4","SLC25A42","SLC26A3","SLC2A2","SLC31A1","SLC34A1","SLC37A4","SLC3A1","SLC4A1","SLC4A4","SLC52A1","SLC5A1","SLC7A7","SOD1","SQOR","STAT2","STX3","SUCLA2","SUCLG1","SUGCT","SUOX","SURF1","SYNJ1","TAFAZZIN","TANGO2","TAOK1","TARS2","TIMM22","TIMM50","TIMMDC1","TK2","TKFC","TMEM126B","TMEM70","TPK1","TRMT10C","TRMT5","TRMU","TRNT1","TSFM","TTC26","TUFM","TWNK","TXN2","TYMP","UPB1","UQCC2","UQCC3","UQCRB","UQCRC2","UQCRFS1","UQCRH","UQCRQ","USP18","USP8","VARS2","VIPAS39","VPS33B","WARS2","WNK1","WNK4","YARS1","YARS2","YME1L1","ZFP57"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CIRCULATING_LEPTIN_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M36490","pmid":"","exactSource":"HP:0004361","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004361","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_LEPTIN_CONCENTRATION","geneSymbols":["ADCY3","AGPAT2","AKT2","BANF1","BSCL2","CIDEC","KCNJ6","LEP","LEPR","LIPE","LMNA","MECP2","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CIRCULATING_NITROGEN_COMPOUND_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M36491","pmid":"","exactSource":"HP:0004364","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004364","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_NITROGEN_COMPOUND_CONCENTRATION","geneSymbols":["AASS","ACAD9","ACADM","ACADVL","ACAT1","ADAMTS13","ALDH18A1","ALDOB","ALG11","ALG5","ALG8","ALG9","ALMS1","APRT","ARG1","ASL","ASS1","ATP5F1A","ATP5F1B","ATP5F1D","ATP5F1E","ATP5MK","ATP7B","ATPAF1","ATPAF2","AVPR2","BICC1","BTD","C3","CA5A","CAD","CARS2","CC2D2A","CCND1","CD46","CFB","CFH","CFHR1","CFHR3","CFI","CLDN16","COL4A3","COQ7","CORIN","COX6B1","CPS1","CPT1A","CPT2","CTNS","CYC1","DBH","DLD","DNAJB11","DPYS","EHHADH","EIF2AK3","ELP1","ERCC4","ERCC6","ERCC8","FAN1","FBP1","FBXL4","FLT1","FOCAD","G6PC1","GALNT2","GAMT","GANAB","GATM","GLUD1","GLUL","GOT2","GPHN","HADH","HADHA","HADHB","HBB","HLCS","HMGCL","HNF1B","HNF4A","HPRT1","HSD17B10","IARS1","IFT140","INVS","LMAN1","LRPPRC","MARS1","MCCC1","MCCC2","MCFD2","MECP2","MLIP","MMAA","MMAB","MMACHC","MMUT","MOCOS","MOCS1","MOCS2","MRM2","MRPS22","MRPS7","MT-ATP6","MT-ATP8","MTO1","MUC1","MYC","NAGS","NBAS","NDUFA6","NDUFAF6","NFE2L2","NPHP1","NR1H4","NT5E","OCRL","OTC","PAX2","PCBD1","PCCA","PCCB","PDHB","PFKM","PHKA2","PHKB","PIGA","PKD1","PKD2","PNP","POLG","PPARG","PRPS1","PYGL","PYGM","REN","RINT1","SARS2","SEC61A1","SERAC1","SH2B1","SLC22A12","SLC22A5","SLC25A13","SLC25A15","SLC25A20","SLC25A36","SLC25A42","SLC2A2","SLC2A9","SLC34A1","SLC37A4","SLC41A1","SLC4A1","SLC4A2","SLC7A7","STOX1","TANGO2","THBD","TMEM260","TMEM70","TNFRSF11A","TNFRSF11B","TREX1","TSFM","TTC26","TUFM","TYMP","UMOD","UQCRC2","UQCRH","WDR19","XDH","ZPR1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_GLYCOLYSIS":{"collection":"C5:HPO","systematicName":"M47097","pmid":"","exactSource":"HP:0004366","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004366","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_GLYCOLYSIS","geneSymbols":["ACAT2","AIFM1","BCS1L","COX10","COX16","COX6A2","DLD","FOXRED1","KARS1","LDHA","LIPT2","LONP1","MECP2","MPC1","MT-ND1","MT-ND2","MT-ND3","MT-TF","MT-TI","MT-TK","MT-TL1","MT-TP","NDUFA1","NDUFA11","NDUFA6","NDUFAF1","NDUFAF2","NDUFAF3","NDUFAF4","NDUFAF5","NDUFAF8","NDUFB10","NDUFB11","NDUFB3","NDUFB9","NDUFS1","NDUFS2","NDUFS3","NDUFS4","NDUFS6","NDUFS7","NDUFS8","NDUFV1","NDUFV2","NUBPL","PC","PDHA1","PDHX","PITRM1","PNPLA8","POLG","SCO2","SDHB","SLC25A26","TIMMDC1","TMEM126B","TWNK","UQCRC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_TEMPERATURE_REGULATION":{"collection":"C5:HPO","systematicName":"M36493","pmid":"","exactSource":"HP:0004370","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004370","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_TEMPERATURE_REGULATION","geneSymbols":["ABCA12","ABCC2","ABCC6","ABL1","ACADSB","ACADVL","ACAT1","ACTN4","ADA","ADA2","ADAMTS13","ADAR","AK2","ALDOA","ALG11","ALOXE3","ALPK1","ALPL","ANK1","ANKFY1","ANKRD55","ANLN","AP1S3","APOL1","AQP2","ARHGAP24","ARHGDIA","ARL3","ASAH1","ASXL1","ATM","ATP13A2","ATP1A2","ATP2A1","ATP5F1B","ATP7A","ATXN3","AVP","AVPR2","BACH2","BCAP31","BCL10","BCL2","BCL6","BCOR","BCR","BIN1","BIRC3","BLNK","BRAT1","BRCA1","BRCA2","BTK","BTNL2","C1QB","C2orf69","C3","C4A","CACNA1A","CACNA1C","CACNA1S","CALR","CASK","CCND1","CCR1","CD244","CD247","CD27","CD2AP","CD3D","CD3E","CD70","CD79A","CD79B","CDON","CEBPE","CFH","CFHR1","CFHR3","CFTR","CHD7","CHEK2","CHRNA1","CHRND","CHRNG","CIITA","CLCF1","CLCN6","CLCN7","CLDN10","CLEC7A","CLPB","COA6","COG6","COG7","COL1A1","COL4A3","COQ8B","COQ9","CPOX","CPT2","CR2","CRB2","CRLF1","CRLS1","CTLA4","CTRC","CYBA","CYBB","CYBC1","CYP11B2","CYP21A2","DAAM2","DBH","DCLRE1C","DDB2","DDC","DEF6","DGUOK","DIS3L2","DISP1","DLL1","DNASE2","DNM2","DOCK2","DPP9","DST","DUOX2","DUOXA2","EDA","EDAR","EDARADD","EIF2AK3","EIF2B1","ELANE","ELF4","ELP1","EMP2","ENPP1","EPB41","EPB42","ERAP1","ERCC2","ERCC3","ERCC4","ERCC5","ERCC6","ERCC8","F5","FAH","FAS","FBP1","FCGR3B","FGF8","FGFR1","FIP1L1","FOCAD","FOXH1","FOXP1","G6PD","GAA","GABRA2","GALC","GAPVD1","GAS1","GATA2","GCH1","GFI1","GLA","GLI2","GPC3","GPR35","GYPC","H19","H4C5","HAVCR2","HBB","HEPHL1","HERC2","HESX1","HLA-B","HLA-DPA1","HLA-DPB1","HLA-DRB1","HMBS","HMGCL","HNRNPK","HSPG2","HTR1A","IBA57","IFIH1","IFNG","IFNGR1","IGHM","IGLL1","IKZF1","IL10","IL12A","IL12A-AS1","IL12B","IL17F","IL17RA","IL17RC","IL1R1","IL23R","IL2RA","IL2RB","IL2RG","IL36RN","IL6","IL6R","IL6ST","IL7R","INF2","IRAK1","IRF2BP2","IRF4","IRF8","ITK","ITPR2","IYD","JAK2","KCNJ1","KDF1","KIF1B","KIT","KLHL7","KLRC4","KRT14","KRT18","KRT5","LACC1","LAMA3","LAMB3","LAMC2","LBR","LBX1","LCK","LDHA","LHX3","LHX4","LIFR","LIG4","LIPA","LMNB1","LPIN1","LPIN2","LRRC8A","LSM11","LYST","MADD","MAGEL2","MAGI2","MALT1","MAP2K1","MAP2K2","MBTPS2","MCM10","MEFV","MICOS13","MIF","MKRN3","MLX","MMACHC","MPL","MRPS7","MST1","MT-ATP6","MT-CO1","MT-CO2","MT-CO3","MT-CYB","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND5","MT-ND6","MT-TF","MT-TH","MT-TK","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TV","MT-TW","MTHFR","MTHFS","MTMR14","MVK","MYD88","MYF6","MYH3","MYO1E","MYO1H","NAB2","NABP1","NALCN","NAXD","NCF1","NCF2","NCF4","NDUFA2","NECTIN4","NFKBIA","NFKBIL1","NGF","NGLY1","NKX2-1","NLRC4","NLRP1","NLRP12","NLRP3","NOD2","NODAL","NPAP1","NPHS1","NPHS2","NPM1","NTRK1","NUAK2","NUMA1","NUP107","NUP133","NUP160","NUP205","NUP37","NUP85","NUP93","OBSCN","OCA2","ORAI1","OTULIN","P4HA2","P4HTM","PAX2","PAX8","PEX6","PGM1","PHOX2B","PIK3CG","PIK3R1","PKHD1","PLA2G6","PLCE1","PLCH1","PML","PMM2","PMP22","POFUT1","POGLUT1","POLR3A","POMP","POU1F1","POU6F2","PRF1","PRKAR1A","PRKCD","PRNP","PROP1","PRSS1","PRSS2","PRTN3","PSAP","PSENEN","PSMB10","PSMB4","PSMB8","PSMB9","PSMG2","PSTPIP1","PTCH1","PTPN2","PTPN22","PTPN3","PTPRC","PTPRO","PTS","PWAR1","PWRN1","QDPR","RAB27A","RAG1","RAG2","RANBP2","RARA","RB1","RBCK1","REL","REST","RIPK1","RMRP","RNASEH2A","RNASEH2B","RNASEH2C","RNF168","RNU4ATAC","RNU7-1","RUNX1","RYR1","SAMHD1","SAT1","SCN10A","SCN11A","SCN4A","SCN5A","SCN9A","SCNN1A","SCNN1B","SCNN1G","SCYL1","SEMA4D","SH2B3","SH2D1A","SH3KBP1","SHANK3","SHH","SHQ1","SIX3","SLC11A1","SLC12A1","SLC12A3","SLC18A2","SLC19A3","SLC22A4","SLC25A19","SLC25A20","SLC29A3","SLC31A1","SLC34A2","SLC35C1","SLC39A7","SLC41A1","SLC4A1","SLC52A1","SLC5A1","SLC5A5","SMARCAL1","SMC1A","SNORD115-1","SNORD116-1","SNX10","SPI1","SPINK1","SPP1","SPR","SPTA1","SPTB","SPTBN1","SRP19","SRP54","SRSF2","STAC3","STAG2","STAT1","STAT2","STAT3","STAT4","STAT5B","STAT6","STIL","STIM1","STING1","STK4","STX11","STXBP2","SUCLG1","SYK","TBC1D8B","TBCK","TBK1","TBL1XR1","TBX3","TCF3","TCF4","TCIRG1","TDGF1","TET2","TG","TGIF1","TH","TICAM1","TLR3","TLR4","TLR7","TMEM165","TNFAIP3","TNFRSF1A","TNFSF11","TP53","TPO","TRAF3","TRAF3IP2","TRAF6","TRANK1","TRAPPC9","TREX1","TRIM28","TRIP13","TRNT1","TRPC6","TSC1","TSC2","TSHB","TSHR","TSPOAP1","TSPYL1","UBA1","UBAC2","UBE3A","UNC13D","UNC93B1","UQCRFS1","UQCRH","VANGL2","VPS11","WAS","WDR1","WIPF1","WT1","XIAP","XPA","XPC","ZBTB16","ZFHX2","ZFYVE19","ZIC2","ZNF699","ZNFX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_REDUCED_CONSCIOUSNESS_CONFUSION":{"collection":"C5:HPO","systematicName":"M36494","pmid":"","exactSource":"HP:0004372","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004372","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_CONSCIOUSNESS_CONFUSION","geneSymbols":["AARS1","ABAT","ABCA7","ABCC8","ABCD1","ABCD4","ACADM","ACADS","ACADSB","ACADVL","ACAT1","ADA2","ADAMTS13","ADORA2A","AGR2","AGRN","AK9","AKT1","AKT2","ALAD","ALDH4A1","ALDOB","ALG12","AMT","APP","ARSA","ASH1L","ASL","ASPA","ASS1","ATP13A2","ATP1A2","ATP1A3","ATP5F1A","ATP5F1D","ATP5F1E","ATP5MK","ATP7B","ATPAF1","ATPAF2","AUH","AVP","BAP1","BCKDHA","BCKDHB","BMP6","BNC2","BOLA3","BRAF","BTD","C4A","CA5A","CACNA1A","CASR","CCR1","CDKN1A","CDKN1B","CDKN2B","CDKN2C","CDON","CFH","CFHR1","CFHR3","CHRNA1","CHRNA2","CHRNB1","CHRND","CHRNE","CLCNKB","COA8","COL13A1","COL3A1","COX5A","CPOX","CPS1","CPT1A","CPT2","CTNNB1","CTSF","CTSH","CUBN","CYC1","CYP24A1","DBT","DDC","DHCR7","DISP1","DLD","DLL1","DMPK","DNMT1","DOK7","DPYD","DPYS","DUOX2","DUOXA2","EIF2B1","EIF2B5","EPM2A","ERAP1","ERCC2","ERCC3","ERCC4","ERCC5","ETFA","ETFB","ETFDH","FAS","FBP1","FGF8","FGFR1","FIG4","FKRP","FKTN","FOXH1","FOXRED1","GABRB2","GALT","GAS1","GATA1","GBA1","GCDH","GCH1","GCK","GFAP","GJB1","GK","GLDC","GLI2","GLUD1","GLYCTK","GNA11","GNAS","GUF1","GYS2","HADH","HADHA","HADHB","HAMP","HCRT","HEATR3","HESX1","HFE","HIBCH","HJV","HLA-B","HLA-DQB1","HLA-DRB1","HLCS","HMBS","HMGCL","HMGCS2","HNF1A","HNF4A","HTT","IFNGR1","IL10","IL12A","IL12A-AS1","IL12B","IL12RB1","IL18BP","IL23R","INS","INSR","IRAK1","IRF5","ISCA2","IVD","IYD","KCNE1","KCNJ11","KCNQ1","KIF1A","KIF21A","KLRC4","KRT18","KYNU","LARGE1","LHX3","LHX4","LMBRD1","LNPK","LONP1","LRP4","LYRM7","MAGEL2","MAN2B1","MC2R","MCCC1","MCCC2","MEFV","MEN1","MLX","MMAA","MMAB","MMACHC","MMADHC","MMEL1","MMUT","MOG","MRAP","MRPS16","MT-ATP6","MT-ATP8","MT-CO1","MT-CO2","MT-CO3","MT-CYB","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND5","MT-ND6","MT-TE","MT-TF","MT-TH","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TT","MT-TW","MTHFR","MTRR","MUSK","MYD88","MYOD1","NAA10","NAB2","NAGS","NAXD","NAXE","NBAS","NDE1","NDUFA1","NDUFA11","NDUFA2","NDUFA6","NDUFAF1","NDUFAF2","NDUFAF3","NDUFAF4","NDUFAF5","NDUFAF8","NDUFB10","NDUFB11","NDUFB3","NDUFB9","NDUFS1","NDUFS2","NDUFS3","NDUFS4","NDUFS6","NDUFS7","NDUFS8","NDUFV1","NDUFV2","NF2","NFKB2","NFS1","NFU1","NHLRC1","NNT","NODAL","NOTCH2NLC","NOTCH3","NUBPL","NUP88","OTC","P2RY11","PAX2","PAX8","PBX1","PCCA","PCCB","PDGFB","PDHA1","PDX1","PEX2","PIGA","PIGG","PIK3CA","PLA2G6","PLCH1","PLP1","POLG","POLG2","POLR3A","POLR3K","POMT1","POMT2","POU1F1","POU2AF1","PPOX","PRDM8","PRDX1","PRF1","PRNP","PROP1","PRPS1","PRRT2","PSAP","PSEN1","PSEN2","PTCH1","PTS","RANBP2","RAPSN","RARS2","RMND1","RNU4ATAC","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS7","RRM2B","RYR1","SAT1","SCN1A","SCN4A","SCO2","SHH","SHQ1","SIK1","SIM1","SIX3","SLC12A3","SLC13A3","SLC18A3","SLC19A2","SLC19A3","SLC1A2","SLC22A5","SLC25A13","SLC25A15","SLC25A19","SLC25A20","SLC25A22","SLC25A4","SLC2A1","SLC2A3","SLC31A1","SLC39A4","SLC4A1","SLC52A1","SLC5A5","SLC7A7","SMARCB1","SMARCE1","SMC1A","SMO","SNCA","SNCB","SORL1","SOX10","SPIB","SPP1","SPR","SQOR","STAG2","STAR","STAT3","STAT4","STAT6","STIL","STX11","STXBP2","SUFU","SUGCT","TBC1D24","TBK1","TBP","TCN2","TDGF1","TERT","TFAM","TG","TGIF1","TH","THRA","TICAM1","TIMMDC1","TLR3","TLR4","TMEM126B","TNFSF15","TNFSF4","TNPO3","TOMM40","TPO","TRAF3","TRAF7","TRANK1","TREM2","TRHR","TSHB","TSHR","TSPOAP1","TSR2","TTC19","TTC26","TTR","TUBA1A","TWNK","TXNRD2","UBAC2","UCP2","UNC13D","UNC93B1","UPB1","UQCRH","USP18","YARS2","YY1","ZIC2","ZNF365","ZNHIT3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FOCAL_DYSTONIA":{"collection":"C5:HPO","systematicName":"M36495","pmid":"","exactSource":"HP:0004373","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004373","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOCAL_DYSTONIA","geneSymbols":["AARS1","ACTA1","ALDH18A1","ALG9","ALS2","ANO3","AOPEP","ARX","ATN1","ATP13A2","ATP1A3","ATP5MC3","B3GALT6","C19orf12","CACNA1A","CASR","CDK10","CEP85L","CHN1","CIZ1","CNP","COASY","COL12A1","COL25A1","COL6A1","COL6A2","COL6A3","COLEC11","COX20","CP","CPLX1","DDC","DRD2","DRD5","FGFR2","FGFR3","FLI1","FOXP2","FTL","FUS","GCH1","GDAP2","GNA11","GNAL","GNAS","GRIK2","HEXB","HINT1","HK1","HPCA","HSPG2","IMPDH2","ITGA7","KCNA1","KCNC3","KCNN2","KCTD17","KIF1C","KIF21A","KMT2B","MAFB","MAPT","MECR","MYF5","NAA10","NAXE","NDUFA6","NEK9","NGLY1","NKX6-2","NR4A2","PANK2","PARK7","PCGF2","PHOX2A","PLA2G6","PLP1","PNKD","POLR1B","POLR1C","POLR1D","PRDX3","PRKAR1B","PRKCG","PRKRA","PRRT2","REEP1","RNF170","ROBO3","SALL4","SCP2","SGCE","SIGMAR1","SLC19A3","SLC39A14","SLC6A3","SOX10","SPG11","SPTBN1","SPTLC1","STARD7","STX16","SUPT16H","SYNGAP1","TACSTD2","TAF1","TBC1D24","TBP","TCOF1","TGFB2","TGM6","TH","THAP1","TIMM8A","TMEM151A","TOR1A","TRPM3","TRPV4","TSPOAP1","TUBA1A","TUBB2B","TUBB3","TUBB4A","TWIST1","VAC14","VPS11","VPS13A","VPS13D","VPS16","ZNF142"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HEMIPLEGIA_HEMIPARESIS":{"collection":"C5:HPO","systematicName":"M36496","pmid":"","exactSource":"HP:0004374","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004374","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEMIPLEGIA_HEMIPARESIS","geneSymbols":["ABCC6","ABCD1","ADA2","ADAR","ADSL","AGR2","AIPL1","AKT1","AKT3","AMACR","ANGPTL6","ARG1","ARHGAP31","ARNT2","ARX","ATP1A2","ATP1A3","B3GALNT2","BAP1","BMPR1A","C4A","CACNA1A","CASZ1","CBS","CCR1","CEP290","CFH","CFHR1","CFHR3","COL3A1","COL4A1","COL4A2","COQ2","CPT1A","CRB1","CRPPA","CRX","CTC1","CTLA4","CYP26C1","DCC","DLL4","DNASE1L3","DNM1L","DOCK6","DOCK8","ENG","ENPP1","EOGT","EPCAM","ERAP1","FAN1","FAS","FGFR1","FKRP","FKTN","FUCA1","GABRD","GALC","GBE1","GDF3","GDF6","GMPPB","GNAQ","GNB1","GON7","GUCY1A1","GUCY2D","HESX1","HLA-B","HLA-DPA1","HLA-DPB1","HLA-DQB1","HMGCL","HPRT1","HRAS","HSPG2","HTRA1","IFIH1","IFNGR1","IFT140","IKBKG","IL10","IL12A","IL12A-AS1","IL23R","IMPDH1","IQCB1","IRAK1","KCNAB2","KCNJ13","KLRC4","KRAS","L1CAM","LAGE3","LARGE1","LCA5","LRAT","LSM11","LUZP1","MEFV","MEOX1","MLH1","MLH3","MMP23B","MMUT","MSH2","MSH6","MT-ATP8","MT-CO1","MT-CO2","MT-CO3","MT-CYB","MT-ND1","MT-ND4","MT-ND5","MT-ND6","MT-TC","MT-TF","MT-TH","MT-TK","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TV","MT-TW","MTHFR","MTOR","NAGA","NF2","NMNAT1","NOTCH1","NOTCH3","NPPA","NUP107","NUP133","OPA1","OSGEP","OTX2","PAH","PCYT1A","PDGFB","PDGFRB","PDPN","PEX7","PHYH","PIK3CA","PLA2G6","PMS1","PMS2","PNPLA6","POMGNT1","POMT1","POMT2","PRDM16","PRF1","PRKCZ","PRNP","PROKR2","PRORP","PRRT2","PRTN3","PTEN","PTPN22","RBPJ","RD3","RDH12","RERE","RHOBTB2","RNASEH2A","RNASEH2B","RNASEH2C","RNF216","RNU7-1","RPE65","RPGRIP1","RPS20","RRM2B","SAMHD1","SAT1","SCN1A","SCN5A","SEMA4A","SKI","SLC12A6","SLC1A3","SLC2A1","SMARCAL1","SMARCB1","SMARCE1","SMO","SNORD118","SOX2","SOX3","SP110","SPATA5L1","SPATA7","SPEN","SPOP","SPP1","STAT4","SUFU","SUOX","TBC1D24","TBK1","TBX1","TERT","TGFBR2","TGFBR3","THSD1","TLR3","TLR4","TP53","TP53RK","TPP2","TPRKB","TRAF7","TREX1","TSC1","TSC2","TTPA","TTR","TUBB2B","TUBB4B","TULP1","UBAC2","UBE4B","USP45","WDR4","WDR62","WDR73","YRDC"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NEOPLASM_OF_THE_NERVOUS_SYSTEM":{"collection":"C5:HPO","systematicName":"M36497","pmid":"","exactSource":"HP:0004375","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004375","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_NERVOUS_SYSTEM","geneSymbols":["AAGAB","ADAMTS3","AKT1","ALK","ALX1","ALX3","APC","APC2","ARMC5","ASCL1","ASXL1","ATRX","BAP1","BDNF","BMPR1A","BRAF","BRCA2","BRD4","CASZ1","CCBE1","CCM2","CCND1","CDKN1A","CDKN1B","CDKN2A","CDKN2B","CDKN2C","CHEK2","CHMP2B","COL14A1","COQ6","CPLANE1","CREBBP","CTNNB1","DAXX","DICER1","DLST","DNMT3A","EDN3","EIF3F","ELP1","EP300","EPAS1","EPCAM","EPHB2","ERBB2","EWSR1","FAM149B1","FAN1","FAT4","FGFR1","FH","FLI1","GABRD","GCDH","GCGR","GDNF","GLI3","GNAS","GPC3","GPC4","GPR161","GRN","HACE1","HRAS","HSPG2","IDH1","IDH2","IFNG","KARS1","KCNAB2","KCNJ11","KEAP1","KIAA0753","KIF1B","KIF7","KIT","KLLN","KRAS","KRIT1","L2HGDH","LBX1","LIN28B","LMNA","LMO1","LRP1","LUZP1","LZTR1","MAFA","MAN2C1","MAPRE2","MAPT","MAX","MBD4","MDH2","MDM2","MEN1","MLH1","MLH3","MMP23B","MN1","MSH2","MSH3","MSH6","MYCN","MYO1H","NAB2","NBN","NF1","NF2","NOTCH3","NRAS","NSD1","NTHL1","NUTM1","OCRL","OFD1","PALB2","PDCD10","PDE11A","PDE6D","PDGFB","PDGFRB","PDPN","PHOX2B","PIK3CA","PMS1","PMS2","POLD1","POLE","POT1","PRDM16","PRKAR1A","PRKCZ","PSEN1","PTCH1","PTCH2","PTEN","PTPN11","RAF1","RB1","RELA","RERE","RET","RNF43","RPS20","RUNX1","SDHA","SDHAF2","SDHB","SDHC","SDHD","SEC23B","SEMA4A","SETBP1","SETD2","SIX6","SKI","SLC25A11","SMARCB1","SMARCE1","SMO","SOX2","SPEN","SPRED1","SPTBN1","STAT6","SUFU","TCTN3","TERT","TGFBR2","TIAM1","TMEM106B","TMEM127","TMEM216","TOP2A","TOPORS","TP53","TRAF7","TREM2","TSC1","TSC2","TUBB","UBE4B","USF3","VCP","VHL","VPS16","WDPCP","WRN","WT1","YY1","ZFTA","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HEMATOLOGICAL_NEOPLASM":{"collection":"C5:HPO","systematicName":"M36498","pmid":"","exactSource":"HP:0004377","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004377","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEMATOLOGICAL_NEOPLASM","geneSymbols":["AAGAB","ABL1","ADA","ADA2","ADAR","ADH5","ALAD","ANAPC1","APC","APC2","ARHGAP26","ASXL1","ATM","ATRX","BAX","BCL10","BCL2","BCL6","BCR","BIRC3","BLM","BRAF","BRCA1","BRCA2","BRD4","BRIP1","BUB1","BUB1B","BUB3","CALR","CASP10","CBL","CCND1","CD19","CD27","CD28","CD70","CD81","CDKN2A","CEBPA","CEP57","CHD7","CHEK2","CHIC2","CLPB","COL14A1","CR2","CREBBP","CSF3R","CTC1","CTLA4","CTPS1","DCLRE1C","DDX41","DEF6","DIAPH1","DKC1","DNAJC21","DNASE1L3","DNMT3A","DUT","DYNC2LI1","EFL1","ELANE","EP300","ERBB3","ERCC4","ETV6","EVC","EVC2","F13A1","F13B","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FAS","FASLG","FCHO1","FLT3","FOXP1","GATA1","GATA2","GBA1","GFI1","GINS1","GLI1","GNB1","H4C9","HAVCR2","HAX1","HEATR3","HLA-DQA1","HLA-DQB1","HLA-DRB1","HSCB","HSPA9","ICOS","IDH1","IFIH1","IGHG2","IGKC","IKZF1","IKZF3","IL2RG","IL6ST","IL7R","IRF2BP2","ITK","JAK2","KIF11","KIT","KLHDC8B","KRAS","LIG4","LPP","LRBA","LSM11","LZTR1","MAD2L2","MAGT1","MALT1","MAP2K1","MBD4","MCM4","MDM2","MEFV","MLH1","MLLT10","MPL","MS4A1","MSH2","MSH6","MYC","MYD88","MYSM1","NAF1","NAGS","NBEAL2","NBN","NF1","NFATC2","NFKB1","NFKB2","NHP2","NOP10","NPM1","NRAS","NSD1","NSUN2","NTHL1","NUMA1","NUP214","NUTM1","PALB2","PARN","PDGFRA","PDGFRB","PGM3","PICALM","PIGL","PIK3CA","PIK3CD","PIK3R1","PMS2","PNP","POLE","POT1","PRF1","PRKACA","PRKACB","PRKCD","PTEN","PTPN11","PTPRC","RAD51","RAD51C","RAD54B","RAD54L","RAF1","RAG1","RAG2","RARA","RASGRP1","RB1","RECQL4","RFWD3","RHOH","RMRP","RNASEH2A","RNASEH2B","RNASEH2C","RNF43","RNU7-1","RPA1","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS14","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS7","RTEL1","RUNX1","SAMD9","SAMD9L","SAMHD1","SBDS","SCN10A","SCN11A","SCN9A","SETBP1","SETD2","SF3B1","SH2B3","SH2D1A","SH3GL1","SLX4","SMARCAL1","SMARCD2","SMPD1","SOCS1","SPRED1","SRP19","SRP54","SRP72","SRSF2","STAT3","STK4","STS","SYK","TAL1","TAL2","TCF3","TCF4","TCIRG1","TERC","TERT","TET2","THPO","TINF2","TNFRSF13B","TNFRSF13C","TNFRSF1B","TNFRSF9","TNFSF12","TP53","TP63","TREM2","TREX1","TRIP13","TSR2","TTC7A","TYMS","TYROBP","UBA1","UBE2T","USB1","WAS","WIPF1","WRAP53","XIAP","XRCC2","XRCC4","ZAP70"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_ANUS":{"collection":"C5:HPO","systematicName":"M36499","pmid":"","exactSource":"HP:0004378","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004378","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_ANUS","geneSymbols":["ABL1","ACADVL","ADAM17","AMER1","AR","ARVCF","ATN1","ATP2A2","B3GLCT","BCOR","BRCA1","BRCA2","BRIP1","C2CD3","CACNA1C","CAPN15","CASZ1","CCDC22","CCNQ","CD19","CD3G","CD81","CD96","CDC45","CDH1","CDH11","CDK8","CDON","CEP120","CHD4","CHD7","CHRM3","COL7A1","COMT","COX7B","CR2","CTNND1","CYBC1","DACT1","DCHS1","DDB1","DDX3X","DDX6","DEF6","DISP1","DKC1","DLL1","DOCK8","DPYS","DPYSL5","DVL3","DYNC2H1","DYNC2I1","DYNC2I2","EGFR","EHMT1","ELANE","ELF4","EMC1","EPCAM","ERCC4","ESCO2","EXTL3","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FAT4","FERMT1","FGF8","FGFR2","FKRP","FKTN","FLI1","FOXC1","FOXF1","FOXH1","FRAS1","FREM1","FREM2","FUZ","G6PC3","GABRD","GAS1","GATA1","GDF3","GDF6","GLI2","GLI3","GP1BB","GPC3","GPC4","GRIP1","HCCS","HES7","HIRA","HOXD13","HSPA9","HSPG2","ICOS","IFT80","IKZF3","IL10RA","IL10RB","INTU","IRF2BP2","ISL1","JMJD1C","KAT6B","KCNAB2","KDM6A","KIF7","KMT2C","KMT2D","KYNU","LARGE1","LIG4","LONP1","LRPPRC","LUZP1","MAD2L2","MAMLD1","MED12","MEOX1","MID1","MKKS","MKS1","MMP1","MMP23B","MNX1","MS4A1","MYCN","NAA10","NBN","NCF4","NDUFB11","NFIX","NFKB1","NFKB2","NODAL","NSUN2","NXN","PALB2","PDPN","PERCC1","PGAP2","PGAP3","PIGL","PIGN","PIGO","PIGV","PIGW","PIGY","PITX2","PKP1","POMT1","POMT2","POR","PORCN","PPP2R3C","PQBP1","PRDM16","PRKCD","PRKCZ","PTCH1","PTDSS1","RAD51","RAD51C","RECQL4","RERE","RFWD3","RFX6","RIPK1","RIPK4","RMRP","RNU12","ROBO1","ROR2","RRAS2","RREB1","RSPO2","SALL1","SALL4","SEC24C","SETBP1","SHH","SIN3A","SIX3","SKI","SLC25A24","SLX4","SMO","SNRPB","SPEN","SPINT2","STIL","SUZ12","SYK","TBC1D23","TBX1","TBX3","TBXT","TCTN3","TDGF1","TGFB1","TGIF1","THOC6","TNFRSF13B","TNFRSF13C","TNFSF12","TNRC6B","TP63","TWIST1","TWIST2","UBE2T","UBE4B","UBR1","UFD1","UPB1","USP9X","VANGL1","VPS35L","WASHC5","WDR35","WNT3","WNT7A","XRCC2","ZIC2","ZIC3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_ALKALINE_PHOSPHATASE_LEVEL":{"collection":"C5:HPO","systematicName":"M36500","pmid":"","exactSource":"HP:0004379","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004379","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_ALKALINE_PHOSPHATASE_LEVEL","geneSymbols":["ABCB11","ABCB4","ABCC6","ABL1","ACVR1","AKR1D1","ALPL","ASXL1","ATP8B1","BCR","BCS1L","BGN","C18orf32","CBL","CCDC115","CCDC47","CEBPE","CHEK2","CLCN7","COG4","COG6","CSF3R","CTNS","CYP27B1","CYP2R1","CYP3A4","CYP7B1","DCDC2","DMP1","ELMO2","ENPP1","ESR1","FAM20C","FGF23","FKBP10","GATM","GPAA1","GPR35","HNF1B","HNF4A","HNRNPA1","HNRNPA2B1","IARS1","IL12A","IL12RB1","IRF5","KIF12","LBR","LIPA","LRRK1","MMEL1","MST1","NPR2","NPR3","NR1H4","PEX2","PGAP2","PGAP3","PHEX","PIGA","PIGB","PIGC","PIGF","PIGG","PIGH","PIGK","PIGL","PIGO","PIGQ","PIGS","PIGT","PIGU","PIGV","PIGW","PIGY","PKD2","PKHD1","PLEKHM1","POU2AF1","PRIM1","PRKCSH","PTH1R","RB1","RUNX1","SC5D","SEMA4D","SGMS2","SH3BP2","SIK3","SLC25A13","SLC2A2","SLC34A1","SLC34A3","SLC37A4","SLC39A4","SLC4A2","SLC51A","SOST","SPIB","SQSTM1","SRSF2","TCF4","TCIRG1","TET2","TFAM","TMEM199","TMEM67","TNFRSF11A","TNFRSF11B","TNFSF15","TNPO3","TP53","TREX1","TRPV6","TTC26","USP53","VCP","VDR","ZNF687"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_AORTIC_VALVE_CALCIFICATION":{"collection":"C5:HPO","systematicName":"M41294","pmid":"","exactSource":"HP:0004380","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004380","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AORTIC_VALVE_CALCIFICATION","geneSymbols":["GATA5","GBA1","HGD","IFIH1","LMNA","NKX2-5","NOTCH1","RIGI","SMAD6","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SUPRAVALVULAR_AORTIC_STENOSIS":{"collection":"C5:HPO","systematicName":"M36501","pmid":"","exactSource":"HP:0004381","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004381","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUPRAVALVULAR_AORTIC_STENOSIS","geneSymbols":["ABCG5","ABCG8","APOB","BAZ1B","BCL7B","BUD23","CLIP2","DNAJC30","DOCK7","EFEMP2","EIF4H","ELN","FBLN5","FKBP6","GTF2I","GTF2IRD1","GTF2IRD2","LDLR","LDLRAP1","LIMK1","LTBP1","METTL27","MLXIPL","NCF1","PCSK9","RFC2","RRAS2","STX1A","TBL2","TMEM270","VPS37D"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MITRAL_VALVE_CALCIFICATION":{"collection":"C5:HPO","systematicName":"M36502","pmid":"","exactSource":"HP:0004382","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004382","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MITRAL_VALVE_CALCIFICATION","geneSymbols":["FBN1","GBA1","HGD","IFIH1","LMNA","MTX2","SLC34A2","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PROTRACTED_DIARRHEA":{"collection":"C5:HPO","systematicName":"M36503","pmid":"","exactSource":"HP:0004385","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004385","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROTRACTED_DIARRHEA","geneSymbols":["ATRX","CD247","CD3D","CD3E","CIITA","DAXX","LCK","MYO5B","RAG1","RAG2","RFX5","RFXANK","RFXAP","SDHD"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_GASTROINTESTINAL_INFLAMMATION":{"collection":"C5:HPO","systematicName":"M36504","pmid":"","exactSource":"HP:0004386","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004386","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GASTROINTESTINAL_INFLAMMATION","geneSymbols":["ABCB1","ACADVL","ADAMTS2","ADAMTSL2","ARPC1B","ATAD1","ATP7A","BACH2","BCL10","CARD10","CARD11","CARD8","CARMIL2","CASP10","CDKN1B","CIITA","COG6","COL17A1","COL7A1","CTLA4","CYBC1","DCLRE1B","DEF6","DNASE2","DOCK2","DOCK8","DSG1","ELANE","ELF4","F13A1","F13B","FAS","FASLG","FCHO1","FCN3","FERMT1","FH","FNIP1","FOXP3","GLRA1","GLRB","GPHN","GPIHBP1","GPR35","GRB10","GUCY2C","HLA-B","HLA-DRB1","HPS1","IARS1","IKBKG","IL10RA","IL10RB","IL12A","IL12RB1","IL21","IL37","IL6","INAVA","IRF5","IRGM","IVNS1ABP","JAK1","LAMA3","LAMB3","LAMC2","LMX1B","LRBA","MAP3K7","MASP2","MEFV","MEN1","MMEL1","MMP1","MST1","MYH11","NCF4","NFKBIA","NLRC4","NOD2","OPLAH","PGM3","PHGDH","PI4KA","PIGY","PIK3CD","PIK3CG","PLCG2","POLA1","POU2AF1","PRF1","PRKCD","PSPH","PSTPIP1","RASGRP1","RBCK1","REL","RET","RFX5","RFXANK","RFXAP","RIPK1","RPL11","RTEL1","SEMA4D","SKIC2","SKIC3","SLC2A10","SLC37A4","SLC6A5","SLC9A3","SMAD3","SPIB","STAT1","STX11","STXBP1","STXBP2","SYK","TCF4","TGFB1","TGFB2","TGFB3","TGFBR1","TGFBR2","TNFAIP3","TNFSF15","TNPO3","TOM1","TRAPPC11","TTC7A","UNC13D","WAS","WIPF1","XIAP","ZAP70"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ENTEROCOLITIS":{"collection":"C5:HPO","systematicName":"M41295","pmid":"","exactSource":"HP:0004387","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004387","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ENTEROCOLITIS","geneSymbols":["ACADVL","DEF6","ELANE","FCN3","FH","IL10RA","IL10RB","MYH11","NLRC4","OPLAH","PIGY","PIK3CG","PLCG2","RET","SLC37A4","STAT1","TOM1","TTC7A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MICROCOLON":{"collection":"C5:HPO","systematicName":"M47098","pmid":"","exactSource":"HP:0004388","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004388","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MICROCOLON","geneSymbols":["ACTG2","AP1S1","GATA6","GUCY2C","LMNA","LMOD1","MYH11","MYLK","SOX10","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INTESTINAL_PSEUDO_OBSTRUCTION":{"collection":"C5:HPO","systematicName":"M36505","pmid":"","exactSource":"HP:0004389","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004389","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTESTINAL_PSEUDO_OBSTRUCTION","geneSymbols":["ACTG2","BRCA1","BRCA2","CDKN2A","ERBB3","FLNA","HNRNPK","IDS","KRAS","LIG3","MT-CO1","MT-CO2","MT-CO3","MT-ND1","MT-ND4","MT-ND5","MT-ND6","MT-TF","MT-TH","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TW","MYH11","PALB2","PALLD","POLG","RABL3","RAD21","SGO1","SMAD4","SMO","TP53","TWNK","TYMP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HAMARTOMATOUS_POLYPOSIS":{"collection":"C5:HPO","systematicName":"M36506","pmid":"","exactSource":"HP:0004390","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004390","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HAMARTOMATOUS_POLYPOSIS","geneSymbols":["AKT1","BMPR1A","GREM1","KLLN","MSH3","PIK3CA","PTCH1","PTEN","SDHB","SDHC","SDHD","SEC23B","SMAD4","STK11","USF3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MULTIPLE_GASTRIC_POLYPS":{"collection":"C5:HPO","systematicName":"M36507","pmid":"","exactSource":"HP:0004394","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004394","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MULTIPLE_GASTRIC_POLYPS","geneSymbols":["APC","BMPR1A","ENG","MSH3","SMAD4","STK11","TREX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MALNUTRITION":{"collection":"C5:HPO","systematicName":"M36508","pmid":"","exactSource":"HP:0004395","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004395","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MALNUTRITION","geneSymbols":["ACTG2","ALDOB","ARHGAP29","ARHGEF38","ATP6V0A1","BMP4","CDH1","COBLL1","COL7A1","COX4I2","CRLF1","CTRC","DLG1","DLX4","DNAJC21","EFL1","FOCAD","GET4","HLA-DQA1","HLA-DQB1","IRF6","LAMA3","LAMB3","LAMC2","LIPA","LMNB1","MMP1","MSX1","MYO5B","NECTIN1","NOS1","PDGFRA","POLG","RIC1","SAA1","SAR1B","SBDS","SLC5A1","SLC7A7","SPINK1","SRP54","TP63","TYMP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_POOR_APPETITE":{"collection":"C5:HPO","systematicName":"M36509","pmid":"","exactSource":"HP:0004396","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004396","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POOR_APPETITE","geneSymbols":["ABL1","ACTA1","AMN","ATRX","BCR","BLM","BRCA1","BRCA2","CAMK2B","CDKN2A","CTNS","CUBN","DAXX","GRB10","HACD1","IL18BP","ITGA7","KRAS","KRT1","KRT10","LEMD2","LIG3","MAP3K20","MGME1","MYL2","NAGS","PALB2","PALLD","PCCA","PCCB","PIK3R1","POLG","RABL3","RHBDF2","RRM2B","RUNX1","SELENON","SLC25A13","SLC25A26","SLC2A2","SLC39A4","SMAD4","TGFB1","TP53","TPM2","TPM3","TRANK1","TYMP","WLS"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ECTOPIC_ANUS":{"collection":"C5:HPO","systematicName":"M36510","pmid":"","exactSource":"HP:0004397","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004397","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ECTOPIC_ANUS","geneSymbols":["ACADVL","ATN1","B3GLCT","C2CD3","CCDC22","CDC45","CDH11","CDK8","CDON","CHD4","COX7B","DACT1","DCHS1","DDB1","DDX3X","DDX6","DISP1","DLL1","DPYSL5","DVL3","DYNC2H1","DYNC2I1","DYNC2I2","ERCC4","ESCO2","FAT4","FGF8","FGFR2","FLI1","FOXH1","FRAS1","FREM1","FREM2","GAS1","GDF3","GDF6","GLI2","GLI3","GRIP1","HCCS","HES7","IFT80","KAT6B","KYNU","LRPPRC","MED12","MEOX1","MID1","MKKS","NDUFB11","NFIX","NODAL","NXN","PGAP2","PGAP3","PIGL","PIGN","PIGO","PIGV","PIGW","PIGY","POR","PORCN","PTCH1","PTDSS1","RECQL4","RFX6","RNU12","ROBO1","ROR2","RRAS2","SALL1","SETBP1","SHH","SIX3","SLC25A24","SNRPB","STIL","SUZ12","TBX3","TDGF1","TGIF1","TP63","TWIST2","UBR1","VPS35L","WASHC5","WDR35","ZIC2","ZIC3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PEPTIC_ULCER":{"collection":"C5:HPO","systematicName":"M36511","pmid":"","exactSource":"HP:0004398","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004398","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PEPTIC_ULCER","geneSymbols":["AP2S1","ARID1B","ASXL1","BAZ1B","BCL7B","BUD23","CDC73","CDKN1A","CDKN1B","CDKN2B","CDKN2C","CISD2","CLIP2","DNAJC30","EIF4H","ELN","FKBP6","GBA1","GNA11","GTF2I","GTF2IRD1","GTF2IRD2","HPGD","KIT","LIMK1","MEN1","METTL27","MLXIPL","NCF1","PLA2G4A","RFC2","SLCO2A1","SRSF2","STX1A","TBL2","TET2","TMEM270","VPS37D","WFS1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_PYLORUS":{"collection":"C5:HPO","systematicName":"M36512","pmid":"","exactSource":"HP:0004400","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004400","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_PYLORUS","geneSymbols":["ADAMTS3","ARF1","ARFGEF2","ATP6V1E1","BCOR","BCR","BIN1","BRD4","CASZ1","CAVIN1","CCBE1","COL18A1","CRKL","CYBA","CYBB","CYBC1","DHCR7","DHODH","DLK1","DNM2","DYRK1A","EFEMP2","ERMARD","FAT4","FBLN5","FGFR2","FIG4","FLI1","FLNA","GABRD","GTF2H5","HDAC4","HDAC8","HNF1B","HRAS","HSPG2","ITGA6","ITGB4","KANSL1","KCNAB2","LAMA3","LAMB3","LAMC2","LTBP1","LTBP4","LUZP1","MAP1B","MAP3K7","MAPK1","MED12","MEG3","MMP23B","MTM1","MTMR14","MYF6","NAA10","NCF1","NCF2","NCF4","NEDD4L","NEFH","NEK9","NFIX","NFKB2","NIPBL","NPHS1","OTC","PAK2","PDPN","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PIEZO2","PLEC","PPP2R3C","PPP2R5D","PRDM16","PRKCZ","PYCR1","RAD21","RERE","RTL1","RYR1","SERPINH1","SH2B1","SKI","SLC2A10","SMC1A","SMC3","SPEN","SYT2","TBX3","TFAP2A","TMTC3","UBE4B","VAC14","ZEB2","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MECONIUM_ILEUS":{"collection":"C5:HPO","systematicName":"M46094","pmid":"","exactSource":"HP:0004401","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004401","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MECONIUM_ILEUS","geneSymbols":["CEACAM3","CEACAM6","CFTR","CLCA4","DCTN4","EDNRA","FCGR2A","GCLC","GSTM3","GUCY2C","HFE","HMOX1","KCNN4","MIF","SERPINA1","SLC11A1","SLC18A3","SLC26A9","SLC6A14","SLC9A3","STX1A","TGFB1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_NIPPLE_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M36513","pmid":"","exactSource":"HP:0004404","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004404","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_NIPPLE_MORPHOLOGY","geneSymbols":["AARS1","ABCD4","ACOX1","ACTB","ADNP","ALG11","ALG12","ALG14","ALG2","ALG3","ALG8","ALG9","AMER1","AMMECR1","ANTXR1","ARCN1","ARHGAP31","ARHGEF2","ASH1L","ASXL1","ASXL3","ATN1","B3GLCT","B4GALT1","BICRA","BRAF","BRD4","C18orf32","CACNA1C","CARS1","CBL","CCDC22","CCDC47","CDH11","CDH2","CDK13","CERT1","CHAMP1","CHD7","CHRNG","CHST3","CILK1","CKAP2L","COG1","COG7","COLEC10","COLEC11","COX7B","CPLX1","CPT2","CSPP1","CTBP1","DDX6","DEF6","DHCR7","DHODH","DLK1","DPAGT1","DPM1","DPYSL5","DUSP6","EBF3","EDA","EDARADD","EED","EFNB1","ERCC2","ERCC3","ERCC6","ERMARD","EXOC2","EZH2","FAT4","FGF17","FGF8","FGFR1","FIG4","FRAS1","FREM2","GATA4","GDF11","GNB2","GNE","GNPTAB","GNRH1","GNRHR","GPC3","GPC4","GRIP1","GTF2E2","GTF2H5","H3-3A","H4C9","HDAC4","HDAC8","HNRNPK","HS2ST1","HS6ST1","IBA57","IDH1","IGF1R","IKBKG","INSR","INTU","JARID2","KANSL1","KAT6A","KATNB1","KCTD1","KDM1A","KDM5B","KDM6B","KIAA0586","KIF15","KIFBP","KISS1","KISS1R","KMT2B","KMT2D","KNSTRN","KRAS","KRT10","LAMA5","LBR","LETM1","LZTR1","MAB21L1","MADD","MAN1B1","MAP2K1","MAPRE2","MASP1","MDH2","MEG3","MEGF8","MGAT2","MPLKIP","MRAS","NECTIN1","NELFA","NF1","NFIX","NHLH2","NIPBL","NONO","NRAS","NSD2","NSMF","NUP188","PACS1","PEX2","PEX3","PGAP2","PGAP3","PIGG","PIGL","PIGN","PIGO","PIGT","PIGV","PIGW","PIGY","PIK3CD","PMM2","PNPLA6","PORCN","PPP1CB","PPP2R5D","PROK2","PROKR2","PSAT1","PTPN11","PTPRF","RAB18","RAB3GAP2","RAD21","RAF1","RASA2","RERE","RFT1","RIPK4","RIT1","RNF113A","RNF216","RRAS","RRAS2","RSPO2","RTL1","SET","SETBP1","SLC25A24","SLC25A46","SLC35A2","SMARCA2","SMC1A","SMC3","SMPD4","SMS","SOS1","SOS2","SOX6","SPRED2","SPRY4","SRD5A3","SRY","STAG1","STT3A","TAC3","TACR3","TARS1","TBL1XR1","TBX3","TCF20","TCF4","TFAP2A","TFAP2B","TIMM50","TMCO1","TMEM94","TNRC6B","TOGARAM1","TP63","TRAF7","TRRAP","TTC5","TUBB","TWIST2","UBA2","UBE2A","UBR1","USP9X","VAC14","VPS35L","WAC","WASF1","WASHC5","WDR11","WDR19","WDR37","WLS","WNT3","WNT7A","ZC4H2","ZEB2","ZMYND11","ZNF148"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SPONTANEOUS_RECURRENT_EPISTAXIS":{"collection":"C5:HPO","systematicName":"M36514","pmid":"","exactSource":"HP:0004406","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004406","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPONTANEOUS_RECURRENT_EPISTAXIS","geneSymbols":["ACVRL1","ENG","GBA1","GDF2","GP1BA","GP1BB","GP9","HPS3","ITGA2B","ITGB3","LYST","MYH9","SRC"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_SENSE_OF_SMELL":{"collection":"C5:HPO","systematicName":"M36515","pmid":"","exactSource":"HP:0004408","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004408","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_SENSE_OF_SMELL","geneSymbols":["ADCY3","AKT1","ANK1","ANOS1","ARNT2","ARSL","ATP13A2","ATP7A","ATP7B","AXL","BAP1","CCDC141","CEP290","CHD7","DCC","DDX6","DMXL2","DNAI1","DNAJC13","DNAJC6","DUSP6","EIF4G1","FEZF1","FGF10","FGF17","FGF8","FGFR1","FGFR2","FGFR3","FLRT3","FSHB","GBA1","GIGYF2","GNRH1","GNRHR","HESX1","HS6ST1","HTRA2","HTT","HYLS1","IFT27","IL17RD","KIF7","KISS1","KISS1R","LGI1","LHB","LRRK2","LZTFL1","MFN2","MICAL1","NDNF","NF2","NHLH2","NSMF","OTX2","PARK7","PDGFB","PEX7","PHYH","PIK3CA","PINK1","PLXND1","PODXL","PRDM12","PRKN","PROK2","PROKR2","PTCH1","PTCH2","PTPN11","RELN","REV3L","SCN9A","SCP2","SEMA3A","SEMA3E","SHH","SLC2A3","SLC39A14","SMARCB1","SMARCE1","SMCHD1","SMO","SNCA","SOX10","SOX2","SOX3","SOX9","SPRY4","SRA1","SUFU","SYNJ1","TAC3","TACR3","TCF12","TERT","TRAF7","TRANK1","TSHZ1","UCHL1","VPS13C","VPS35","WDR11"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPOSMIA":{"collection":"C5:HPO","systematicName":"M36516","pmid":"","exactSource":"HP:0004409","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004409","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOSMIA","geneSymbols":["ADCY3","ANOS1","ATP13A2","ATP7B","CCDC141","CEP290","CHD7","DCC","DDX6","DNAJC13","DNAJC6","DUSP6","EIF4G1","FEZF1","FGF17","FGF8","FGFR1","FLRT3","GBA1","GIGYF2","HESX1","HS6ST1","HTRA2","IFT27","IL17RD","LRRK2","LZTFL1","NDNF","NSMF","PARK7","PINK1","PODXL","PRDM12","PRKN","PROK2","PROKR2","PTPN11","SCN9A","SCP2","SEMA3A","SLC39A14","SMCHD1","SNCA","SOX10","SPRY4","SYNJ1","TACR3","TSHZ1","UCHL1","VPS13C","VPS35","WDR11"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DEVIATED_NASAL_SEPTUM":{"collection":"C5:HPO","systematicName":"M36517","pmid":"","exactSource":"HP:0004411","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004411","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEVIATED_NASAL_SEPTUM","geneSymbols":["CREBBP","EP300","EXOSC5","FGFR2","NF1","NONO","PAH"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_PULMONARY_ARTERY":{"collection":"C5:HPO","systematicName":"M36518","pmid":"","exactSource":"HP:0004414","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004414","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_PULMONARY_ARTERY","geneSymbols":["AASS","ACTA2","ACVR2B","ADAMTS19","AGGF1","ALDH18A1","ALDH1A2","ARHGAP31","ARSL","B3GLCT","BAZ1B","BCL11B","BCL7B","BCOR","BGN","BMPR2","BRAF","BUD23","CBL","CCDC22","CCNQ","CHD7","CIROP","CLCN7","CLIP2","CNTN1","COL3A1","COL5A1","CRELD1","CRTAP","DGCR2","DGCR6","DGCR8","DLK1","DLL4","DNAJC30","DOCK6","DVL3","EDNRB","EFEMP2","EIF4H","ELN","EOGT","ESS2","FADD","FBLN5","FBN1","FGFR1","FKBP6","FLT4","FOXF1","FRA10AC1","GATA1","GATA4","GATA6","GDF1","GPC6","GTF2I","GTF2IRD1","GTF2IRD2","IFT43","IPO8","ITPR1","JAG1","KITLG","KRAS","LIFR","LIMK1","LMNA","LTBP1","LTBP4","LZTR1","MED12","MEG3","METTL27","MGP","MITF","MLXIPL","MMP21","MRAS","MYH7","NAA10","NCF1","NKX2-5","NKX2-6","NODAL","NOTCH1","NOTCH2","NRAS","ODAD1","OTUD5","PAX6","PIGL","PIGN","PIGO","PKD1L1","PLD1","PLXND1","POLA1","PPP1CB","PTPN11","RAF1","RASA2","RBPJ","RFC2","RIT1","RPL10","RRAS","RRAS2","RTL1","SKIC2","SKIC3","SLC2A10","SMARCA4","SMG8","SNAI2","SNX10","SOS1","SOS2","SOX10","SPRED2","STRA6","STX1A","TAOK1","TBL2","TBX1","TCIRG1","TGFBR1","TGFBR2","TLL1","TMEM270","TMEM94","TNFSF11","TRAF7","TRAIP","TTC26","TYR","UBE2A","VPS37D","WNT4","WRN","ZEB2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PULMONARY_ARTERY_STENOSIS":{"collection":"C5:HPO","systematicName":"M36519","pmid":"","exactSource":"HP:0004415","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004415","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PULMONARY_ARTERY_STENOSIS","geneSymbols":["ALDH18A1","ARHGAP31","ARSL","BAZ1B","BCL11B","BCL7B","BCOR","BUD23","CBL","CCNQ","CLCN7","CLIP2","CNTN1","DLK1","DNAJC30","EFEMP2","EIF4H","ELN","FBLN5","FGFR1","FKBP6","FOXF1","GATA1","GATA4","GATA6","GPC6","GTF2I","GTF2IRD1","GTF2IRD2","IFT43","JAG1","KRAS","LIMK1","LTBP1","LTBP4","LZTR1","MED12","MEG3","METTL27","MGP","MLXIPL","MRAS","NAA10","NCF1","NKX2-5","NKX2-6","NOTCH2","NRAS","ODAD1","PIGL","PIGN","PIGO","PLXND1","POLA1","PPP1CB","PTPN11","RAF1","RASA2","RFC2","RIT1","RPL10","RRAS","RRAS2","RTL1","SKIC2","SKIC3","SLC2A10","SNX10","SOS1","SOS2","SPRED2","STX1A","TAOK1","TBL2","TCIRG1","TMEM270","TNFSF11","UBE2A","VPS37D","WNT4","WRN","ZEB2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PRECOCIOUS_ATHEROSCLEROSIS":{"collection":"C5:HPO","systematicName":"M36520","pmid":"","exactSource":"HP:0004416","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004416","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PRECOCIOUS_ATHEROSCLEROSIS","geneSymbols":["ABCG5","ABCG8","APOA5","APOB","CETP","CYP27A1","LDLR","LDLRAP1","LMNA","LPL","PCSK9","TNXB"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INTERMITTENT_CLAUDICATION":{"collection":"C5:HPO","systematicName":"M36521","pmid":"","exactSource":"HP:0004417","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004417","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTERMITTENT_CLAUDICATION","geneSymbols":["ABCC6","AGXT","JAK2","MPL","NT5E","TET2","XYLT1","XYLT2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_THROMBOPHLEBITIS":{"collection":"C5:HPO","systematicName":"M36522","pmid":"","exactSource":"HP:0004418","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004418","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THROMBOPHLEBITIS","geneSymbols":["AKT1","F13A1","F2","HABP2","MTHFR","PROC","PRORP","PROS1","PTEN","SERPINC1","TGFB2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RECURRENT_THROMBOPHLEBITIS":{"collection":"C5:HPO","systematicName":"M36523","pmid":"","exactSource":"HP:0004419","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004419","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_THROMBOPHLEBITIS","geneSymbols":["F13A1","F2","HABP2","MTHFR","SERPINC1","TGFB2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ARTERIAL_THROMBOSIS":{"collection":"C5:HPO","systematicName":"M36524","pmid":"","exactSource":"HP:0004420","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004420","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ARTERIAL_THROMBOSIS","geneSymbols":["AKT1","C4A","CALR","CBS","CCR1","ERAP1","F2","FAS","FCGR2C","HLA-B","HLA-DRB1","IFNGR1","IL10","IL12A","IL12A-AS1","IL23R","JAK2","KLRC4","MEFV","MPL","MYH7","P4HA2","PIGA","PROS1","PTEN","PTPN22","SERPINC1","SH2B3","STAT4","TET2","THPO","TLR4","TP53","UBAC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ELEVATED_SYSTOLIC_BLOOD_PRESSURE":{"collection":"C5:HPO","systematicName":"M36525","pmid":"","exactSource":"HP:0004421","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004421","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELEVATED_SYSTOLIC_BLOOD_PRESSURE","geneSymbols":["ADD1","AGT","AGTR1","ATP1B1","AVPR2","CORIN","CYP3A5","ECE1","FLT1","GNB3","NOS3","PTGIS","RGS5","STOX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BIPARIETAL_NARROWING":{"collection":"C5:HPO","systematicName":"M36526","pmid":"","exactSource":"HP:0004422","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004422","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BIPARIETAL_NARROWING","geneSymbols":["AHI1","ANKRD11","ARL13B","ARL3","ARMC9","B9D1","B9D2","BRAF","CBY1","CC2D2A","CD96","CEP104","CEP120","CEP290","CEP41","CPLANE1","CSPP1","CUL4B","DHCR7","FAM149B1","GATA4","HNRNPU","HRAS","HYLS1","IFT74","INPP5E","KATNIP","KIAA0586","KIAA0753","KIF1A","KIF7","KRAS","LIG4","MAP2K1","MAP2K2","MCOLN1","MEIS2","MKS1","NPHP1","NRAS","OFD1","PDE6D","PIBF1","PLK4","PTEN","RPGRIP1L","SC5D","SUFU","TCTN1","TCTN2","TCTN3","TMEM138","TMEM216","TMEM218","TMEM231","TMEM237","TMEM67","TOGARAM1","TOPORS","TUBGCP4","TUBGCP6","TWIST1","XRCC4","ZNF423","ZNHIT3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FLAT_FOREHEAD":{"collection":"C5:HPO","systematicName":"M36527","pmid":"","exactSource":"HP:0004425","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004425","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FLAT_FOREHEAD","geneSymbols":["B4GALT7","CAMK2G","CHST14","COG7","EXT2","FGFR2","IARS2","IL11RA","KCNH1","KNSTRN","LRP5","PIK3CD","RECQL4","TWIST1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CHEEK_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M36528","pmid":"","exactSource":"HP:0004426","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004426","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CHEEK_MORPHOLOGY","geneSymbols":["ACTB","ACTG1","AEBP1","AFF4","AGL","AIP","ALX1","ALX3","ANK1","ANKRD11","ARID1B","ASXL1","ATP6V0A2","ATP7A","AUTS2","B3GLCT","B9D1","B9D2","BCOR","BICRA","BMP2","BRAF","BRF1","CAV1","CC2D2A","CCDC22","CCDC88A","CDC42BPB","CDK5","CEP290","CHD7","CHN1","CITED2","CLCF1","CLCN3","COL2A1","CPE","CPLX1","CREBBP","CRLF1","CSPP1","CTBP1","CTNND2","CYP26C1","DACT1","DDB1","DDX3X","DICER1","DLK1","DPM1","DPYD","DPYSL5","DTYMK","EDN1","EDNRA","EEF1A2","EFEMP2","EFTUD2","EIF2AK3","EIF2S3","ELMO2","ELN","EP300","EXT2","EXTL3","EYA1","FAT4","FBLN5","FBN1","FGF3","FGFR1","FGFR2","FGFRL1","FLNA","FLNB","FLT4","FN1","GATA4","GATA5","GATA6","GDF1","GJA5","GNAI3","GNAS","GNB2","GPC3","GPC4","GPR101","GSC","H1-4","H4C3","H4C5","H4C9","HEATR3","HK1","HNRNPK","HNRNPU","HRAS","HSPG2","IARS1","IDS","IDUA","IER3IP1","IFT122","IFT140","IFT52","INTS1","IRX5","JAG1","KAT6A","KAT6B","KCNH1","KCNJ2","KDM6A","KDM6B","KDR","KIDINS220","KIF11","KIF1A","KIF7","KLHL7","KMT2B","KMT2D","KMT2E","KRAS","LARS1","LETM1","LIFR","LMNA","LMX1B","LRP1","LRP5","LTBP1","LTBP3","MAFB","MAP2K1","MAP2K2","MAP3K7","MAPK8IP3","MED12","MED13L","MEG3","MID1","MITF","MKS1","MLXIPL","MOCS1","MOCS2","MSL3","MTHFS","NAA10","NALCN","NEK9","NGLY1","NKX2-5","NKX2-6","NOTCH2","NPHP3","NRAS","NSD2","OCRL","ODC1","PAX1","PCLO","PCNT","PIGB","PIGN","PIGQ","PIGS","PIK3CA","PLCB4","POLR1B","POLR1C","POLR1D","PPP1CB","PPP1R15B","PRMT7","PSMC3","PSPH","PUF60","PURA","PYCR1","RAB23","RPGRIP1","RPGRIP1L","RTL1","SALL1","SALL4","SC5D","SEMA3E","SEMA5A","SETD1A","SETD1B","SF3B2","SF3B4","SH3BP2","SH3PXD2B","SHANK3","SIM1","SIX1","SIX5","SLC26A2","SLC29A3","SLC35A2","SLC37A4","SMARCA2","SNRPN","SNX14","SON","SOX11","SPECC1L","SPTBN1","STAG2","STX16","STXBP1","SVBP","SYK","TAFAZZIN","TASP1","TBCE","TBL1XR1","TBX1","TCF4","TCOF1","TCTN1","TCTN2","TCTN3","TECPR2","TFAP2A","TFE3","TGDS","TMEM107","TMEM216","TMEM231","TMEM237","TMEM260","TMEM67","TRMT10A","TRPM3","TUBB4A","TXNDC15","TXNL4A","UBE2A","UBE3B","UFC1","VPS13B","VPS33A","VPS35L","WAC","WASHC5","WBP11","WDR19","WDR26","WDR35","WLS","XYLT2","YARS1","ZFPM2","ZNF462","ZNF668","ZNHIT3","ZPR1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ELFIN_FACIES":{"collection":"C5:HPO","systematicName":"M36529","pmid":"","exactSource":"HP:0004428","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004428","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELFIN_FACIES","geneSymbols":["BAZ1B","BCL7B","BUD23","CLIP2","DNAJC30","EIF4H","ELN","FARSA","FKBP6","GTF2I","GTF2IRD1","GTF2IRD2","HEPHL1","INSR","LIMK1","METTL27","MLXIPL","NCF1","RFC2","STX1A","TBL2","TMEM270","VPS37D"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RECURRENT_VIRAL_INFECTIONS":{"collection":"C5:HPO","systematicName":"M36530","pmid":"","exactSource":"HP:0004429","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004429","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_VIRAL_INFECTIONS","geneSymbols":["ADA","ARHGEF1","BTD","BTK","CD8A","CIITA","CLPB","CTPS1","DCLRE1C","DEF6","DNAJC21","DOCK8","EFL1","ELANE","EPG5","FCGR3A","FLI1","GATA2","GFI1","IFIH1","IGHM","IKZF1","IL2RA","IL2RG","IL7R","IRF9","ISG15","JAK1","JAK3","KNSTRN","MAGT1","MALT1","MCM4","NFKB2","NHEJ1","PGM3","PIK3CD","PNP","POMP","RAG1","RAG2","RALGAPA1","RFX5","RFXANK","RFXAP","RMRP","RNF168","SBDS","SH3KBP1","SP110","SRP19","SRP54","STAT1","STK4","TCIRG1","TYK2","ZAP70"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SEVERE_COMBINED_IMMUNODEFICIENCY":{"collection":"C5:HPO","systematicName":"M41296","pmid":"","exactSource":"HP:0004430","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004430","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEVERE_COMBINED_IMMUNODEFICIENCY","geneSymbols":["ADA","AK2","BCL11B","CD3D","CHD7","DCLRE1C","EXTL3","IL2RG","IL7R","JAK3","LIG4","MTHFD1","PGM3","PI4KA","PNP","PRKDC","RAG1","RAG2","RMRP","TTC7A","XRCC4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_AGAMMAGLOBULINEMIA":{"collection":"C5:HPO","systematicName":"M36531","pmid":"","exactSource":"HP:0004432","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004432","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AGAMMAGLOBULINEMIA","geneSymbols":["BLNK","BTK","CARD11","CD79A","CD79B","CDCA7","CIITA","FNIP1","HELLS","IGHM","IGLL1","IKBKB","IL2RG","LRRC8A","PIK3R1","RFX5","RFXANK","RFXAP","SH3KBP1","SLC39A7","SPI1","TCF3","TIMM8A","TTC7A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CRANIAL_HYPEROSTOSIS":{"collection":"C5:HPO","systematicName":"M41297","pmid":"","exactSource":"HP:0004437","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004437","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CRANIAL_HYPEROSTOSIS","geneSymbols":["AKT1","ALMS1","AMER1","ANKH","CA2","COL1A1","COX4I2","DDB2","ERCC2","ERCC3","ERCC4","ERCC5","FGFR1","FLNA","GJA1","GNAS","HNRNPA1","HNRNPA2B1","IDUA","KRAS","LRP4","LRP5","MAN2B1","NOTCH3","OSTM1","PIK3CA","PRKAR1A","PTDSS1","PTEN","RPS6KA3","SLC29A3","SLC39A14","SMAD4","SOST","SP7","TBXAS1","TCIRG1","THOC2","TNFRSF11A","TNFRSF11B","TNFSF11","VCP","XPA","XPC"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CRANIOFACIAL_DYSOSTOSIS":{"collection":"C5:HPO","systematicName":"M36532","pmid":"","exactSource":"HP:0004439","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004439","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CRANIOFACIAL_DYSOSTOSIS","geneSymbols":["ALX4","EDNRA","EFTUD2","FGFR2","IL11RA","MSX2","POLR1C","RPS26","SLC25A24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CORONAL_CRANIOSYNOSTOSIS":{"collection":"C5:HPO","systematicName":"M36533","pmid":"","exactSource":"HP:0004440","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004440","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CORONAL_CRANIOSYNOSTOSIS","geneSymbols":["ALX4","BPNT2","CCBE1","CEP120","CTSK","EFNB1","ERF","FGFR1","FGFR2","FGFR3","GTF2E2","H4C9","IL11RA","MASP1","MSX2","P4HB","PIGO","POLA1","POR","RAB23","RECQL4","RNU12","SCUBE3","SEC24D","SLC25A24","SMO","SPECC1L","TCF12","TWIST1","ZEB2","ZIC1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SAGITTAL_CRANIOSYNOSTOSIS":{"collection":"C5:HPO","systematicName":"M36534","pmid":"","exactSource":"HP:0004442","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004442","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SAGITTAL_CRANIOSYNOSTOSIS","geneSymbols":["ATP6V1B2","CDC45","DNMT3A","DPF2","DPH1","DPH2","ERF","FGFR2","GLIS3","HNRNPK","IFT122","IFT43","IL11RA","KRAS","RAB23","RECQL4","RNU12","SON","SPECC1L","TBC1D24","TCF12","TWIST1","WDR19"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LAMBDOIDAL_CRANIOSYNOSTOSIS":{"collection":"C5:HPO","systematicName":"M36535","pmid":"","exactSource":"HP:0004443","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004443","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LAMBDOIDAL_CRANIOSYNOSTOSIS","geneSymbols":["BMP4","ERF","FGFR2","HNRNPK","IL11RA","KRAS","MASP1","PIGT","POR","RAB23","RAC3","RECQL4","RNU12","SEC24D","TWIST1","ZIC1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SPHEROCYTOSIS":{"collection":"C5:HPO","systematicName":"M36536","pmid":"","exactSource":"HP:0004444","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004444","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPHEROCYTOSIS","geneSymbols":["ANK1","EPB42","RHAG","RHCE","RHD","SLC4A1","SPTA1","SPTB"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ELLIPTOCYTOSIS":{"collection":"C5:HPO","systematicName":"M36537","pmid":"","exactSource":"HP:0004445","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004445","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELLIPTOCYTOSIS","geneSymbols":["ACSL4","AMMECR1","CA2","EPB41","GATA1","GYPC","KCNE5","NHLRC2","SLC4A1","SPTA1","SPTB","TRNT1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_STOMATOCYTOSIS":{"collection":"C5:HPO","systematicName":"M36538","pmid":"","exactSource":"HP:0004446","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004446","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_STOMATOCYTOSIS","geneSymbols":["ABCB6","ABCG8","EPB41","GATA1","GP1BA","GYPC","RHAG","RHCE","RHD","SLC2A1","SLC4A1","SPTA1","SPTB"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_POIKILOCYTOSIS":{"collection":"C5:HPO","systematicName":"M36539","pmid":"","exactSource":"HP:0004447","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004447","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POIKILOCYTOSIS","geneSymbols":["ABCB6","ABCG8","ACSL4","ADAMTS13","AMMECR1","AMN","ANK1","APOB","CA2","CAD","CALR","CASK","CDAN1","CDIN1","CFH","CFHR1","CFHR3","CLPB","CRIPT","CUBN","CYP4F22","EPB41","EPB42","G6PD","GATA1","GP1BA","GYPC","HBB","JAK2","KCNE5","KCNN4","KIF23","KLF1","MPIG6B","MPL","MTTP","NHLRC2","PANK2","PIEZO1","PKLR","RACGAP1","RHAG","RHCE","RHD","SAR1B","SC5D","SLC19A1","SLC2A1","SLC4A1","SPTA1","SPTB","STEAP3","TET2","TMPRSS6","TOR1A","TRNT1","UMPS","UROS","VPS13A","XK"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FULMINANT_HEPATIC_FAILURE":{"collection":"C5:HPO","systematicName":"M41298","pmid":"","exactSource":"HP:0004448","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004448","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FULMINANT_HEPATIC_FAILURE","geneSymbols":["GFM1","HADH","IL18BP","KRT18","POLG2","SH2D1A","XIAP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_MIDDLE_EAR_OSSICLES":{"collection":"C5:HPO","systematicName":"M36540","pmid":"","exactSource":"HP:0004452","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004452","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_MIDDLE_EAR_OSSICLES","geneSymbols":["ABCC6","BPTF","COL1A1","COL1A2","ENPP1","EYA1","GDF6","GJB2","GJB6","IDS","IL11RA","MAP3K7","NOG","NOTCH3","POLR1D","POU3F4","PSMD12","RAD21","SETBP1","SIX1","SIX5","STAG2","TFAP2A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_OVERFOLDING_OF_THE_SUPERIOR_HELICES":{"collection":"C5:HPO","systematicName":"M43293","pmid":"","exactSource":"HP:0004453","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004453","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OVERFOLDING_OF_THE_SUPERIOR_HELICES","geneSymbols":["BICRA","FGFR2","GNAI3","PLCB4","SALL1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_MIDDLE_EAR_REFLEXES":{"collection":"C5:HPO","systematicName":"M46095","pmid":"","exactSource":"HP:0004454","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004454","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MIDDLE_EAR_REFLEXES","geneSymbols":["AIFM1","DIAPH3","MPDU1","OTOF","PRORP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DILATATED_INTERNAL_AUDITORY_CANAL":{"collection":"C5:HPO","systematicName":"M36541","pmid":"","exactSource":"HP:0004458","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004458","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DILATATED_INTERNAL_AUDITORY_CANAL","geneSymbols":["EYA1","GJB2","GJB6","POU3F4","SIX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABSENT_BRAINSTEM_AUDITORY_RESPONSES":{"collection":"C5:HPO","systematicName":"M41299","pmid":"","exactSource":"HP:0004463","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004463","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_BRAINSTEM_AUDITORY_RESPONSES","geneSymbols":["ERCC4","ERCC6","ERCC8","KARS1","MOGS","NEFL","OPA1","OTOF","RIPOR2","SOX10","SPTBN4","TIMM8A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CHRONIC_BRONCHITIS":{"collection":"C5:HPO","systematicName":"M41300","pmid":"","exactSource":"HP:0004469","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004469","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHRONIC_BRONCHITIS","geneSymbols":["ALMS1","CARMIL2","CCDC39","CCDC40","CCDC65","CFAP298","CFTR","DNAAF11","DNAAF4","DNAAF5","DNAH7","DNMT3B","GUSB","HYDIN","ODAD2","ODAD3","RAC2","RSPH4A","SCNN1A","SCNN1B","SCNN1G","SERPINA1","SPAG1","TRAF3IP1","ZBTB24","ZMYND10"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APLASIA_CUTIS_CONGENITA_OVER_THE_SCALP_VERTEX":{"collection":"C5:HPO","systematicName":"M36542","pmid":"","exactSource":"HP:0004471","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004471","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_CUTIS_CONGENITA_OVER_THE_SCALP_VERTEX","geneSymbols":["BMS1","CDH1","DLL4","ITGB4","MCTP2","PLEC","UBA2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PERSISTENT_OPEN_ANTERIOR_FONTANELLE":{"collection":"C5:HPO","systematicName":"M46096","pmid":"","exactSource":"HP:0004474","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004474","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERSISTENT_OPEN_ANTERIOR_FONTANELLE","geneSymbols":["ANKRD11","ATP7A","CTSK","DSE","GH1","PEX2","RUNX2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PROGRESSIVE_MACROCEPHALY":{"collection":"C5:HPO","systematicName":"M36543","pmid":"","exactSource":"HP:0004481","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004481","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROGRESSIVE_MACROCEPHALY","geneSymbols":["AKT1","GCDH","GFAP","HEXB","NDUFS4","PIK3CA","PTEN"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RELATIVE_MACROCEPHALY":{"collection":"C5:HPO","systematicName":"M36544","pmid":"","exactSource":"HP:0004482","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004482","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RELATIVE_MACROCEPHALY","geneSymbols":["ACAN","ACER3","APC","APC2","BGN","BRAF","CCDC22","CDKN1C","CEP120","CUL4B","DHCR24","DLK1","DOCK3","DPH1","DPH2","FH","GRB10","H19","HMGA2","IFT81","IGF2","IHH","ITCH","LAMA5","LBR","LMNA","LZTR1","MED12","MEG3","MITF","MRAS","NF1","NONO","NXN","OBSL1","PCGF2","PLAG1","POLE","POLR3A","POP1","PPP1CB","PTDSS1","RIT1","RTL1","SATB2","SERPINH1","SHOC2","SNX14","SON","SOX9","THRA","TNFRSF11B","TONSL","TRIP11","USP7","USP9X","VPS35L","XYLT1","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CRANIOFACIAL_ASYMMETRY":{"collection":"C5:HPO","systematicName":"M36545","pmid":"","exactSource":"HP:0004484","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004484","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CRANIOFACIAL_ASYMMETRY","geneSymbols":["CPLX1","CTBP1","FGFRL1","LETM1","MAF","NSD2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CESSATION_OF_HEAD_GROWTH":{"collection":"C5:HPO","systematicName":"M36546","pmid":"","exactSource":"HP:0004485","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004485","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CESSATION_OF_HEAD_GROWTH","geneSymbols":["ATP10A","EIF2B1","OCA2","PLAA","SNRPN","UBE3A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MACROCEPHALY_AT_BIRTH":{"collection":"C5:HPO","systematicName":"M36547","pmid":"","exactSource":"HP:0004488","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004488","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MACROCEPHALY_AT_BIRTH","geneSymbols":["BIN1","DNM2","FOCAD","MTMR14","MYF6","ODC1","PIGN","RYR1","SLC16A2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CALVARIAL_HYPEROSTOSIS":{"collection":"C5:HPO","systematicName":"M36548","pmid":"","exactSource":"HP:0004490","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004490","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CALVARIAL_HYPEROSTOSIS","geneSymbols":["AKT1","COL1A1","COX4I2","HNRNPA1","HNRNPA2B1","IDUA","PRKAR1A","PTEN","SLC39A14","VCP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LARGE_POSTERIOR_FONTANELLE":{"collection":"C5:HPO","systematicName":"M43294","pmid":"","exactSource":"HP:0004491","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004491","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LARGE_POSTERIOR_FONTANELLE","geneSymbols":["DUOX2","DUOXA2","GPX4","HESX1","INTU","IYD","LHX3","LHX4","NAA10","PAX8","PEX26","POU1F1","PROP1","RNU12","SLC5A5","TG","TPO","TSHB","TSHR"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_WIDELY_PATENT_FONTANELLES_AND_SUTURES":{"collection":"C5:HPO","systematicName":"M36549","pmid":"","exactSource":"HP:0004492","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004492","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WIDELY_PATENT_FONTANELLES_AND_SUTURES","geneSymbols":["ACE","AGT","AGTR1","ALPL","CYP27B1","CYP2R1","LMNA","MED12","MSX2","PEX1","POLR3A","RBM10","REN","SETBP1","SLC34A3","VDR","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CRANIOFACIAL_HYPEROSTOSIS":{"collection":"C5:HPO","systematicName":"M36550","pmid":"","exactSource":"HP:0004493","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004493","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CRANIOFACIAL_HYPEROSTOSIS","geneSymbols":["AKT1","AMER1","ANKH","DDB2","ERCC2","ERCC3","ERCC4","ERCC5","FGFR1","FLNA","GJA1","GNAS","KRAS","LRP4","LRP5","NOTCH3","PTDSS1","RPS6KA3","SLC29A3","SMAD4","SOST","SP7","TBXAS1","TCIRG1","TNFRSF11A","XPA","XPC"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BILATERAL_CHOANAL_ATRESIA":{"collection":"C5:HPO","systematicName":"M45414","pmid":"","exactSource":"HP:0004502","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004502","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BILATERAL_CHOANAL_ATRESIA","geneSymbols":["DCHS1","FAT4","FOXE1","KMT2D","PAICS","POLR1A","SLC37A4","TP63","TXNL4A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PANCREATIC_ISLET_CELL_HYPERPLASIA":{"collection":"C5:HPO","systematicName":"M36551","pmid":"","exactSource":"HP:0004510","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004510","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PANCREATIC_ISLET_CELL_HYPERPLASIA","geneSymbols":["ABCC8","DIS3L2","FAH","GCGR","GPC3","GPC4","HNF4A","INSR","KCNJ11","LBR","SLC16A1","UCP2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SCARRING_ALOPECIA_OF_SCALP":{"collection":"C5:HPO","systematicName":"M36552","pmid":"","exactSource":"HP:0004552","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004552","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SCARRING_ALOPECIA_OF_SCALP","geneSymbols":["CLDN1","COL17A1","EBP","GATA1","GJB2","GJB6","ITGB4","KDF1","LAMA3","LAMB3","LAMC2","MBTPS2","PLEC","RHOA","UROD","UROS"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_GENERALIZED_HYPERTRICHOSIS":{"collection":"C5:HPO","systematicName":"M41301","pmid":"","exactSource":"HP:0004554","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004554","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENERALIZED_HYPERTRICHOSIS","geneSymbols":["ATP6V1B2","KCNH1","KCNMA1","KCNN3","KMT2A","NEU1","SETBP1","SRCAP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SEVERE_PLATYSPONDYLY":{"collection":"C5:HPO","systematicName":"M36553","pmid":"","exactSource":"HP:0004565","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004565","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEVERE_PLATYSPONDYLY","geneSymbols":["COL2A1","EXTL3","FGFR3","INPPL1","LRP5","PAM16","PCYT1A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BEAKING_OF_VERTEBRAL_BODIES":{"collection":"C5:HPO","systematicName":"M36554","pmid":"","exactSource":"HP:0004568","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004568","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BEAKING_OF_VERTEBRAL_BODIES","geneSymbols":["AGA","ARSK","B3GALT6","CCN6","COL11A2","COL2A1","COMP","DYM","FLNB","FUCA1","GALNS","GLB1","GNPTAB","GORAB","GUSB","HGSNAT","NEPRO","NF1","NPR2","PLCB3","PRKG2","PYCR1","RINT1","RSPRY1","SERPINF1","SH3PXD2B","TMCO1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INCREASED_VERTEBRAL_HEIGHT":{"collection":"C5:HPO","systematicName":"M36555","pmid":"","exactSource":"HP:0004570","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004570","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_VERTEBRAL_HEIGHT","geneSymbols":["CCDC8","CUL7","FGFR3","ITCH","MAN2B1","NOTCH2","OBSL1","PPP1R15B","TRPV4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SCLEROTIC_VERTEBRAL_ENDPLATES":{"collection":"C5:HPO","systematicName":"M36556","pmid":"","exactSource":"HP:0004576","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004576","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SCLEROTIC_VERTEBRAL_ENDPLATES","geneSymbols":["CCN6","CLCN7","DMP1","ENPP1","LRRK1","SOST"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BICONCAVE_VERTEBRAL_BODIES":{"collection":"C5:HPO","systematicName":"M36557","pmid":"","exactSource":"HP:0004586","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004586","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BICONCAVE_VERTEBRAL_BODIES","geneSymbols":["AIP","ARSK","CBS","COL1A1","COL1A2","COL2A1","FKBP10","FN1","GORAB","IDUA","IFITM5","KIF22","LRP5","MBTPS2","NANS","NMNAT1","NOTCH2","NOTCH3","PYCR1","SERPINF1","TENT5A","TONSL","TRAPPC2","USP8","ZBTB20"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPOPLASTIC_SACRUM":{"collection":"C5:HPO","systematicName":"M46097","pmid":"","exactSource":"HP:0004590","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004590","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASTIC_SACRUM","geneSymbols":["FANCL","POC1A","ROR2","RPS19","TP63","TRIP11"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_THORACIC_PLATYSPONDYLY":{"collection":"C5:HPO","systematicName":"M45415","pmid":"","exactSource":"HP:0004592","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004592","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THORACIC_PLATYSPONDYLY","geneSymbols":["COL2A1","FLNB","LBR","PLCB3","PRKG2","RSPRY1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABSENT_OR_MINIMALLY_OSSIFIED_VERTEBRAL_BODIES":{"collection":"C5:HPO","systematicName":"M36558","pmid":"","exactSource":"HP:0004599","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004599","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_OR_MINIMALLY_OSSIFIED_VERTEBRAL_BODIES","geneSymbols":["ALPL","BMPER","COL2A1","DYNC2H1","DYNC2I1","DYNC2I2","FLNB","IFT80","LBR","SLC26A2","SOX9","TRIP11","VPS35L","WDR35"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CERVICAL_C2_C3_VERTEBRAL_FUSION":{"collection":"C5:HPO","systematicName":"M36559","pmid":"","exactSource":"HP:0004602","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004602","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CERVICAL_C2_C3_VERTEBRAL_FUSION","geneSymbols":["AEBP1","AFF4","ASH1L","ASXL2","BRPF1","CDH11","DKK1","FLNA","GDF3","GDF6","MEOX1","MYO18B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BICONVEX_VERTEBRAL_BODIES":{"collection":"C5:HPO","systematicName":"M43295","pmid":"","exactSource":"HP:0004625","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004625","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BICONVEX_VERTEBRAL_BODIES","geneSymbols":["COL2A1","FN1","RMRP","RNU4ATAC","TRIP11"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LUMBAR_SCOLIOSIS":{"collection":"C5:HPO","systematicName":"M36560","pmid":"","exactSource":"HP:0004626","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004626","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LUMBAR_SCOLIOSIS","geneSymbols":["ALMS1","AP1G1","ASH1L","ATG7","ATP6V1B2","COL2A1","GNPTAB","HYAL1","IDH1","LONP1","NIN","PAPSS2","PLK4","RPL10","SLC35B2","TBC1D24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DECREASED_CERVICAL_SPINE_FLEXION_DUE_TO_CONTRACTURES_OF_POSTERIOR_CERVICAL_MUSCLES":{"collection":"C5:HPO","systematicName":"M36561","pmid":"","exactSource":"HP:0004631","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004631","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_CERVICAL_SPINE_FLEXION_DUE_TO_CONTRACTURES_OF_POSTERIOR_CERVICAL_MUSCLES","geneSymbols":["EMD","FHL1","LMNA","PLEC","SYNE1","SYNE2","TMEM43"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DECREASED_CERVICAL_SPINE_MOBILITY":{"collection":"C5:HPO","systematicName":"M36562","pmid":"","exactSource":"HP:0004637","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004637","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_CERVICAL_SPINE_MOBILITY","geneSymbols":["CCN6","FKRP","FOXA2","GLI2","GMPPB","HESX1","LARGE1","LHX3","LHX4","OTX2","POMT1","POMT2","POU1F1","PROP1","TRAPPC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DECREASED_FACIAL_EXPRESSION":{"collection":"C5:HPO","systematicName":"M36563","pmid":"","exactSource":"HP:0004673","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004673","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_FACIAL_EXPRESSION","geneSymbols":["ACTA1","ADH1C","ASXL3","ATP13A2","ATP1A3","ATP6AP2","ATP6V1A","ATP7A","ATXN2","ATXN8OS","BCL11B","CC2D1A","CCDC174","CERT1","CLTC","CNTNAP1","COL25A1","DCTN1","DDHD2","DLK1","DMXL2","DNA2","DNAJC13","DNAJC6","DNMT3B","DPM2","DUX4","DUX4L1","EBF3","EIF2AK2","EIF4G1","ERGIC1","FA2H","FBXO7","FKRP","FKTN","FMR1","FRG1","FTL","GBA1","GFM2","GIGYF2","GIPC1","GLE1","GLUD2","GMPPB","GOSR2","HACD1","HLA-DQB1","HOXB1","HSPG2","ITGA7","ITPR1","JAM2","KCNH1","KCNJ6","KCNK9","KDM6A","KLHL41","KMT2D","KNSTRN","LAMA2","LARGE1","LRP12","LRRK2","MAP3K20","MAPT","MEG3","MRE11","MSTO1","MT-TT","MYH2","MYH3","MYH7","MYL1","MYL2","MYMX","NEB","NOTCH2NLC","NR4A2","OGDHL","PABPN1","PANK2","PAX6","PDGFB","PDGFRB","PIEZO2","PIK3CD","PLA2G6","PLAA","PLXND1","PODXL","POLG","POLG2","POMT1","POMT2","PRDX3","PRNP","PTRH2","PURA","PYROXD1","REV3L","RILPL1","RIPK4","RRM2B","RTL1","RYR1","SCYL2","SELENON","SGCB","SLC16A2","SLC18A2","SLC20A2","SLC25A4","SLC30A10","SLC39A14","SLC52A3","SLC6A3","SLC6A8","SLC6A9","SLC9A7","SMCHD1","SNCA","SNCAIP","SPR","SPTBN4","STAC3","SYNJ1","TAFAZZIN","TANGO2","TBP","TECPR2","TH","TK2","TNNT1","TNPO2","TPM2","TPM3","TRIM32","TWNK","TXNL4A","UBA1","UBA5","UBE3A","UFC1","VAMP1","VPS35","VPS41"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_TALIPES_VALGUS":{"collection":"C5:HPO","systematicName":"M36564","pmid":"","exactSource":"HP:0004684","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004684","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TALIPES_VALGUS","geneSymbols":["ADGRV1","CARS1","CHMP1A","DNMT3A","EXT1","EXT2","GABRD","GABRG2","HCN1","HNRNPH1","LIFR","MAN2B1","NONO","RAB3GAP2","SCN1A","SCN1B","SCN2A","SCN9A","STX1B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_2_3_TOE_SYNDACTYLY":{"collection":"C5:HPO","systematicName":"M36566","pmid":"","exactSource":"HP:0004691","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004691","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_2_3_TOE_SYNDACTYLY","geneSymbols":["ADNP","ALDH1A2","AP1G1","APC2","ARCN1","BBS7","BCOR","BHLHA9","BMP2","BMPR1B","CDC45","CEP55","CERT1","CLCF1","CNOT2","CNTNAP1","CSGALNACT1","CTCF","DDX11","DDX6","DHCR7","EBP","FBXW11","FDFT1","FGFR1","FGFR2","GDF5","GNE","H4C9","HEPHL1","HOXD13","IFT172","IFT43","IL11RA","JARID2","KCNJ2","KCNJ5","KCTD1","KMT2A","KMT2B","LMBR1","MAB21L2","MAN1B1","MAPRE2","MED25","MEF2C","MEIS2","MYCN","MYRF","NBN","NEDD4L","NIPBL","NOG","NSD1","PDE6D","PHIP","PIGY","POLR3A","PSMD12","PUF60","RAD21","RAI1","RALA","RBPJ","SALL1","SATB1","SETD2","SETD5","SHANK3","SHMT2","SIK3","SLC12A2","SLC12A6","SMAD4","SOX5","STAG1","SYT1","TBCK","TBX15","TP63","TRIO","TRMT5","TTI2","TXNL4A","UBE2A","WDPCP","ZMIZ1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_4_5_TOE_SYNDACTYLY":{"collection":"C5:HPO","systematicName":"M36567","pmid":"","exactSource":"HP:0004692","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004692","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_4_5_TOE_SYNDACTYLY","geneSymbols":["CCNQ","HOXD13","MAP3K20","MYCN","NECTIN4","NSDHL","NSUN2","RBBP8","SALL1","TBX15","TELO2","TMEM231"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RENAL_MALROTATION":{"collection":"C5:HPO","systematicName":"M36568","pmid":"","exactSource":"HP:0004712","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004712","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RENAL_MALROTATION","geneSymbols":["EYA1","FIBP","PAX2","RBM8A","SALL4","SIX1","SOX11","STRA6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_THICKENED_GLOMERULAR_BASEMENT_MEMBRANE":{"collection":"C5:HPO","systematicName":"M46098","pmid":"","exactSource":"HP:0004722","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004722","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THICKENED_GLOMERULAR_BASEMENT_MEMBRANE","geneSymbols":["CD151","CEP83","CFH","COL4A3","COL4A4","COL4A5","DGKE","GATA3","LMX1B","NOS1AP","RNU7-1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CALCIUM_NEPHROLITHIASIS":{"collection":"C5:HPO","systematicName":"M36571","pmid":"","exactSource":"HP:0004724","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004724","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CALCIUM_NEPHROLITHIASIS","geneSymbols":["ADCY10","AGXT","GRHPR","HOGA1","OPLAH","SLC26A1","SLC34A2","SLC34A3","SLC36A2","TBC1D7"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_IMPAIRED_RENAL_CONCENTRATING_ABILITY":{"collection":"C5:HPO","systematicName":"M43296","pmid":"","exactSource":"HP:0004727","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004727","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRED_RENAL_CONCENTRATING_ABILITY","geneSymbols":["BSND","CEP290","CLCNKA","CLCNKB","FAM20A","NPHP1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RENAL_CORTICAL_MICROCYSTS":{"collection":"C5:HPO","systematicName":"M36572","pmid":"","exactSource":"HP:0004734","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004734","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RENAL_CORTICAL_MICROCYSTS","geneSymbols":["INVS","NEK8","PEX1","PEX2","SKIC3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CROSSED_FUSED_RENAL_ECTOPIA":{"collection":"C5:HPO","systematicName":"M36573","pmid":"","exactSource":"HP:0004736","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004736","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CROSSED_FUSED_RENAL_ECTOPIA","geneSymbols":["APC","CCNQ","CDC42BPB","CTU2","DACT1","DDX59","EBP","KDM6A","KMT2D","LRP4","SALL4","WT1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_RENAL_COLLECTING_SYSTEM_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M36574","pmid":"","exactSource":"HP:0004742","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004742","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RENAL_COLLECTING_SYSTEM_MORPHOLOGY","geneSymbols":["COL18A1","DHCR7","EYA1","FANCA","FANCC","FANCD2","FANCE","IARS1","JAG1","KDM6A","KMT2D","LAMA3","LAMB3","LAMC2","MAPK1","OTUD5","PIGA","PIGL","PIGN","PIGY","POGZ","PSMC1","RTTN","SHOC2","SIX1","SUCLG1","TELO2","TNXB","TP63"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ATRIAL_FLUTTER":{"collection":"C5:HPO","systematicName":"M36575","pmid":"","exactSource":"HP:0004749","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004749","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ATRIAL_FLUTTER","geneSymbols":["ACTC1","CITED2","CLIC2","DMPK","GATA4","GATA6","KCNK3","LMNA","MT-CYB","MYH6","NKX2-5","NUP155","PRKAG2","SCN3B","SCN5A","SGO1","TBX20","TLL1","TNNI3K"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PAROXYSMAL_VENTRICULAR_TACHYCARDIA":{"collection":"C5:HPO","systematicName":"M36576","pmid":"","exactSource":"HP:0004751","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004751","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PAROXYSMAL_VENTRICULAR_TACHYCARDIA","geneSymbols":["ABCC9","AKAP9","CACNA1C","CACNA2D1","CACNB2","GNAI2","GPD1L","GYG1","HCN4","JUP","KCND3","KCNE3","KCNE5","KCNJ8","LMOD2","PKP2","RANGRF","SCN10A","SCN1B","SCN2B","SCN3B","SCN5A","SCNN1A","SEMA3A","SLMAP","TECRL","TRPM4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PERMANENT_ATRIAL_FIBRILLATION":{"collection":"C5:HPO","systematicName":"M46099","pmid":"","exactSource":"HP:0004754","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004754","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERMANENT_ATRIAL_FIBRILLATION","geneSymbols":["FLNC","KCNA5","KCNE2","KCNJ2","KCNJ5","KCNQ1","MYL4","SCN3B","SCN5A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SUPRAVENTRICULAR_TACHYCARDIA":{"collection":"C5:HPO","systematicName":"M36577","pmid":"","exactSource":"HP:0004755","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004755","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUPRAVENTRICULAR_TACHYCARDIA","geneSymbols":["ABCC9","ACTC1","ACTN2","AKAP9","BMP2","CACNA1C","CACNA1S","CACNA2D1","CACNB2","CITED2","COX7B","DNMT3A","FLAD1","GATA4","GATA6","GPD1L","HCCS","HCN4","KCND3","KCNE3","KCNE5","KCNJ8","KCTD1","LMNA","MT-CYB","MYH6","MYL2","NAA10","NDUFB11","NKX2-5","NUP155","PKP2","RANGRF","RYR1","SCN10A","SCN1B","SCN2B","SCN3B","SCN5A","SCNN1A","SEMA3A","SLC19A2","SLMAP","SPRED1","TBX20","TLL1","TNNI3K","TRPM4","TTN"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_VENTRICULAR_TACHYCARDIA":{"collection":"C5:HPO","systematicName":"M36578","pmid":"","exactSource":"HP:0004756","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004756","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VENTRICULAR_TACHYCARDIA","geneSymbols":["ABCC9","ACADVL","ACTC1","AKAP9","BAG5","BTNL2","CACNA1C","CACNA1S","CACNA2D1","CACNB2","CALM1","CALM2","CALM3","CASQ2","CDH2","CPT2","CRYAB","CSRP3","CTNNA3","DSG2","DSP","GNAI2","GPD1L","GYG1","HCN4","HLA-DRB1","JPH2","JUP","KCND3","KCNE3","KCNE5","KCNJ2","KCNJ5","KCNJ8","LAMP2","LMOD2","MT-CYB","MYH6","MYH7","MYL2","MYOZ2","NAA10","NDUFB11","NPPA","PKP2","RANGRF","RYR1","RYR2","SCN10A","SCN1B","SCN2B","SCN3B","SCN5A","SCNN1A","SEMA3A","SLC12A3","SLC25A20","SLMAP","TANGO2","TECRL","TMEM43","TPM1","TRDN","TRPM4","TTN"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PAROXYSMAL_ATRIAL_FIBRILLATION":{"collection":"C5:HPO","systematicName":"M36579","pmid":"","exactSource":"HP:0004757","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004757","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PAROXYSMAL_ATRIAL_FIBRILLATION","geneSymbols":["ABCC9","CASQ2","CSRP3","GJA5","GNB2","HCN4","KCNA5","KCNE2","KCNH2","KCNJ2","KCNQ1","LMNA","LRP12","MYL4","PLN","PRKAG2","RYR2","SCN1B","SCN2B","SCN3B","SCN5A","TBX5","TRDN"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LACTOSE_INTOLERANCE":{"collection":"C5:HPO","systematicName":"M43297","pmid":"","exactSource":"HP:0004789","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004789","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LACTOSE_INTOLERANCE","geneSymbols":["LCT","MCM6","MTOR","PGM3","SATB1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ESOPHAGEAL_ULCERATION":{"collection":"C5:HPO","systematicName":"M36581","pmid":"","exactSource":"HP:0004791","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004791","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ESOPHAGEAL_ULCERATION","geneSymbols":["ASCC1","COL7A1","CTHRC1","MMP1","MSR1","PLA2G4A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MALROTATION_OF_SMALL_BOWEL":{"collection":"C5:HPO","systematicName":"M36582","pmid":"","exactSource":"HP:0004794","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004794","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MALROTATION_OF_SMALL_BOWEL","geneSymbols":["CHST14","CPLX1","CTBP1","DSE","FGFRL1","KAT6B","LETM1","NSD2","WNT4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_GASTROINTESTINAL_OBSTRUCTION":{"collection":"C5:HPO","systematicName":"M36583","pmid":"","exactSource":"HP:0004796","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004796","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GASTROINTESTINAL_OBSTRUCTION","geneSymbols":["ABCD1","APC","ATP7A","BRCA1","BRCA2","CALR","CAVIN1","CD55","CDKN2A","CEACAM3","CEACAM6","CFTR","CLCA4","CTLA4","CTNNB1","DCTN4","ECE1","EDN3","EDNRA","EDNRB","ERBB2","ERBB3","ERCC2","EWSR1","EXT1","EXT2","F5","FAH","FCGR2A","FOXP3","GCLC","GDNF","GSTM3","GUCY2C","HFE","HLA-DPA1","HLA-DPB1","HMBS","HMOX1","IL6","JAK2","JAK3","KCNN4","KIF26A","KIT","KRAS","MEFV","MIF","MITF","MNX1","MTRFR","MVK","MYC","MYH11","NOD2","NOTCH3","NRTN","PALB2","PALLD","PDGFRA","PDGFRB","PPOX","PRTN3","PTPN22","RABL3","RET","SDHA","SDHB","SDHC","SDHD","SEMA3C","SEMA3D","SERPINA1","SLC11A1","SLC18A3","SLC26A9","SLC6A14","SLC6A8","SLC9A3","SMAD4","SMO","SOX10","SREBF1","STK11","STX1A","TBCE","TGFB1","TNFRSF1A","TP53","TTC7A","WT1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RECURRENT_INFECTION_OF_THE_GASTROINTESTINAL_TRACT":{"collection":"C5:HPO","systematicName":"M36584","pmid":"","exactSource":"HP:0004798","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004798","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_INFECTION_OF_THE_GASTROINTESTINAL_TRACT","geneSymbols":["ADAM17","ADAT3","AICDA","BLM","CARMIL2","CD3E","CD3G","CIITA","CLPB","COG4","CORIN","DCLRE1C","EGFR","ELANE","FLT1","FOXP3","GFI1","IFNGR1","IL21R","IRF9","JAK3","MAN2B1","NBN","NFKB2","NFKBIA","RFX5","RFXANK","RFXAP","SH3KBP1","SLC35C1","SP110","SPINK5","SRP19","SRP54","STOX1","TCIRG1","TNFRSF13B","VPS33A","ZAP70"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CONGENITAL_HEMOLYTIC_ANEMIA":{"collection":"C5:HPO","systematicName":"M36585","pmid":"","exactSource":"HP:0004804","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004804","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONGENITAL_HEMOLYTIC_ANEMIA","geneSymbols":["EPB41","GYPC","KCNN4","PIEZO1","PKLR","SLC4A1","SPTA1","SPTB"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ACUTE_MYELOID_LEUKEMIA":{"collection":"C5:HPO","systematicName":"M36586","pmid":"","exactSource":"HP:0004808","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004808","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACUTE_MYELOID_LEUKEMIA","geneSymbols":["ADA2","ADH5","ASXL1","BLM","BRCA2","CDKN2A","CEBPA","CHEK2","CHIC2","CLPB","DDX41","DKC1","DNAJC21","DNMT3A","EFL1","ELANE","ERBB3","ETV6","FLT3","GATA1","GATA2","GFI1","HEATR3","JAK2","KIT","KRAS","LPP","MBD4","MDM2","MEFV","MLLT10","MPL","NPM1","NUP214","PICALM","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS14","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS7","RUNX1","SAMD9","SAMD9L","SBDS","SF3B1","SH3GL1","SRP19","SRP54","SRSF2","TCIRG1","TERT","TET2","THPO","TP53","TSR2","UBE2T"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NEONATAL_ALLOIMMUNE_THROMBOCYTOPENIA":{"collection":"C5:HPO","systematicName":"M36587","pmid":"","exactSource":"HP:0004809","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004809","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEONATAL_ALLOIMMUNE_THROMBOCYTOPENIA","geneSymbols":["ADAR","CD109","GP1BA","GP1BB","IFIH1","ITGA2","ITGA2B","ITGB3","LSM11","RNASEH2A","RNASEH2B","RNASEH2C","RNU7-1","SAMHD1","TREX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CONGENITAL_HYPOPLASTIC_ANEMIA":{"collection":"C5:HPO","systematicName":"M46101","pmid":"","exactSource":"HP:0004810","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004810","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONGENITAL_HYPOPLASTIC_ANEMIA","geneSymbols":["KIF23","LPIN2","RMRP","RPS19","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPERSEGMENTATION_OF_NEUTROPHIL_NUCLEI":{"collection":"C5:HPO","systematicName":"M46102","pmid":"","exactSource":"HP:0004821","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004821","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERSEGMENTATION_OF_NEUTROPHIL_NUCLEI","geneSymbols":["AMN","CUBN","FTCD","MTHFD1","SFXN4","SLC19A1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ANISOPOIKILOCYTOSIS":{"collection":"C5:HPO","systematicName":"M36588","pmid":"","exactSource":"HP:0004823","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004823","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANISOPOIKILOCYTOSIS","geneSymbols":["AMN","CAD","CLPB","CRIPT","CUBN","HBB","KCNN4","MPIG6B","SC5D","STEAP3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPOCHROMIC_MICROCYTIC_ANEMIA":{"collection":"C5:HPO","systematicName":"M36589","pmid":"","exactSource":"HP:0004840","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004840","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOCHROMIC_MICROCYTIC_ANEMIA","geneSymbols":["ABCB7","ALAS2","ATRX","BCL11A","C2orf69","CARD10","CP","DNAJC19","HBA1","HBA2","HBB","HBG1","HBG2","HSCB","KARS1","KLF1","LPIN2","OSTM1","SHPK","TAFAZZIN","TMPRSS6","TRNT1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_REDUCED_FACTOR_XII_ACTIVITY":{"collection":"C5:HPO","systematicName":"M36590","pmid":"","exactSource":"HP:0004841","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004841","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_FACTOR_XII_ACTIVITY","geneSymbols":["BRAF","F12","MAP2K1","MGAT2","PTPN11","SLC37A4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_COOMBS_POSITIVE_HEMOLYTIC_ANEMIA":{"collection":"C5:HPO","systematicName":"M36591","pmid":"","exactSource":"HP:0004844","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004844","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_COOMBS_POSITIVE_HEMOLYTIC_ANEMIA","geneSymbols":["CASP10","FAS","FASLG","FOXP3","HMOX1","LAT","PRKCD","RASGRP1","SOCS1","TNFRSF4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PROLONGED_BLEEDING_AFTER_SURGERY":{"collection":"C5:HPO","systematicName":"M36592","pmid":"","exactSource":"HP:0004846","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004846","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROLONGED_BLEEDING_AFTER_SURGERY","geneSymbols":["F10","F13A1","F13B","F5","F7","F8","GP1BA","GP1BB","GP9","ITGA2B","ITGB3","LMAN1","MCFD2","P2RY12","SERPINE1","VWF"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INTERMITTENT_THROMBOCYTOPENIA":{"collection":"C5:HPO","systematicName":"M46103","pmid":"","exactSource":"HP:0004854","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004854","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTERMITTENT_THROMBOCYTOPENIA","geneSymbols":["G6PC3","GP1BA","TFRC","WAS","WDR1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_REDUCED_PROTEIN_S_ACTIVITY":{"collection":"C5:HPO","systematicName":"M43298","pmid":"","exactSource":"HP:0004855","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004855","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_PROTEIN_S_ACTIVITY","geneSymbols":["ALG12","ALG6","B4GALT1","DPAGT1","DPM1","GGCX","MPI","PROS1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_AMEGAKARYOCYTIC_THROMBOCYTOPENIA":{"collection":"C5:HPO","systematicName":"M36593","pmid":"","exactSource":"HP:0004859","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004859","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AMEGAKARYOCYTIC_THROMBOCYTOPENIA","geneSymbols":["BRAF","HOXA11","MAP2K1","MECOM","MPL","PTPN11"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_IMPAIRED_ADP_INDUCED_PLATELET_AGGREGATION":{"collection":"C5:HPO","systematicName":"M41302","pmid":"","exactSource":"HP:0004866","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004866","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRED_ADP_INDUCED_PLATELET_AGGREGATION","geneSymbols":["ACTN1","AP3B1","CALR","FLI1","GP1BA","HPS5","HPS6","IKZF5","ITGA2B","ITGB3","MYH9","P2RY12","RASGRP2","SH2B3","THPO"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CHRONIC_HEMOLYTIC_ANEMIA":{"collection":"C5:HPO","systematicName":"M36594","pmid":"","exactSource":"HP:0004870","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004870","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHRONIC_HEMOLYTIC_ANEMIA","geneSymbols":["ABCG8","HBB","NHLRC2","PKLR","SPTB","TPI1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PERINEAL_FISTULA":{"collection":"C5:HPO","systematicName":"M36595","pmid":"","exactSource":"HP:0004871","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004871","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERINEAL_FISTULA","geneSymbols":["CD3G","CDK8","DACT1","ELF4","KDM6A","KMT2D","NCF4","PKP1","RECQL4","SALL1","SYK","TCTN3","TGFB1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INTERCOSTAL_MUSCLE_WEAKNESS":{"collection":"C5:HPO","systematicName":"M43299","pmid":"","exactSource":"HP:0004878","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004878","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTERCOSTAL_MUSCLE_WEAKNESS","geneSymbols":["ACTA1","HACD1","ITGA7","LAMA2","MAP3K20","MYL2","SELENON","TPM2","TPM3","TRPV4","VRK1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INTERMITTENT_HYPERVENTILATION":{"collection":"C5:HPO","systematicName":"M45417","pmid":"","exactSource":"HP:0004879","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004879","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTERMITTENT_HYPERVENTILATION","geneSymbols":["CASK","CNTNAP2","FBP1","MECP2","TCF4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_EPISODIC_RESPIRATORY_DISTRESS":{"collection":"C5:HPO","systematicName":"M36596","pmid":"","exactSource":"HP:0004885","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004885","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EPISODIC_RESPIRATORY_DISTRESS","geneSymbols":["AGRN","CHAT","COL13A1","MT-ATP6","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND5","MT-ND6","MT-TK","MT-TL1","MT-TV","MT-TW","MYO9A","SLC18A3","SLC25A1","SLC5A7","SNAP25","SYT2","VAMP1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CONGENITAL_LARYNGEAL_STRIDOR":{"collection":"C5:HPO","systematicName":"M46104","pmid":"","exactSource":"HP:0004886","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004886","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONGENITAL_LARYNGEAL_STRIDOR","geneSymbols":["AGTPBP1","EXOSC3","EXOSC8","EXOSC9","NFASC","PLP1","SLC25A46","VRK1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RESPIRATORY_FAILURE_REQUIRING_ASSISTED_VENTILATION":{"collection":"C5:HPO","systematicName":"M36597","pmid":"","exactSource":"HP:0004887","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004887","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RESPIRATORY_FAILURE_REQUIRING_ASSISTED_VENTILATION","geneSymbols":["ACTA1","AHDC1","ALAD","ARSL","BCHE","CSF2RA","CSF2RB","DPYD","GAA","GNPTAB","HPDL","IGHMBP2","MT-TE","MTM1","MYH11","NDUFAF8","POLR1B","PRIM1","PRPS1","SLC25A46","SLC52A3","SMPD1","TBCD","TBK1","TFG","TICAM1","TK2","TLR3","TRAF3","TRMU","TSEN54","UNC93B1","USP18"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INTERMITTENT_EPISODES_OF_RESPIRATORY_INSUFFICIENCY_DUE_TO_MUSCLE_WEAKNESS":{"collection":"C5:HPO","systematicName":"M36598","pmid":"","exactSource":"HP:0004889","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004889","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTERMITTENT_EPISODES_OF_RESPIRATORY_INSUFFICIENCY_DUE_TO_MUSCLE_WEAKNESS","geneSymbols":["AGRN","CHAT","CHRNA1","COL13A1","MYH7","MYO9A","SELENON","SLC18A3","SLC25A1","SLC5A7","SNAP25","SYT2","TTN","VAMP1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SEVERE_LACTIC_ACIDOSIS":{"collection":"C5:HPO","systematicName":"M36600","pmid":"","exactSource":"HP:0004900","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004900","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEVERE_LACTIC_ACIDOSIS","geneSymbols":["BCS1L","COX16","LRPPRC","MT-TE","MT-TT","NDUFS2","NDUFS4","PDHA1","RRM2B","SLC25A26","SLC25A4","TRMU","TSFM","UQCC3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MATURITY_ONSET_DIABETES_OF_THE_YOUNG":{"collection":"C5:HPO","systematicName":"M36601","pmid":"","exactSource":"HP:0004904","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004904","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MATURITY_ONSET_DIABETES_OF_THE_YOUNG","geneSymbols":["ABCC8","APPL1","BLK","CEL","DLK1","GCK","HNF1A","HNF1B","HNF4A","HYMAI","INS","KCNJ11","KLF11","MEG3","NEUROD1","PAX4","PCBD1","PDX1","PLAGL1","RTL1","ZFP57"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BICARBONATE_WASTING_RENAL_TUBULAR_ACIDOSIS":{"collection":"C5:HPO","systematicName":"M41303","pmid":"","exactSource":"HP:0004910","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004910","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BICARBONATE_WASTING_RENAL_TUBULAR_ACIDOSIS","geneSymbols":["EHHADH","GATM","NDUFAF6","SLC34A1","SLC4A4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_EPISODIC_METABOLIC_ACIDOSIS":{"collection":"C5:HPO","systematicName":"M46105","pmid":"","exactSource":"HP:0004911","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004911","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EPISODIC_METABOLIC_ACIDOSIS","geneSymbols":["ACADS","CTNS","MCCC1","MMUT","NFU1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPOPHOSPHATEMIC_RICKETS":{"collection":"C5:HPO","systematicName":"M36603","pmid":"","exactSource":"HP:0004912","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004912","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPHOSPHATEMIC_RICKETS","geneSymbols":["ABCC6","CLCN5","CTNS","DMP1","EHHADH","ENPP1","FAH","FGF23","GATM","HNF4A","HRAS","KRAS","NAB2","NDUFAF6","NRAS","PHEX","POLRMT","SLC34A1","SLC34A3","STAT6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_MAGNESIUM_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M36604","pmid":"","exactSource":"HP:0004921","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004921","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MAGNESIUM_CONCENTRATION","geneSymbols":["ALDOB","AP2S1","ATP1A1","BSND","CACNA1S","CASR","CLCNKA","CLCNKB","CLDN10","CLDN16","CLDN19","CNNM2","CTNS","DBH","EGF","FOXP3","FXYD2","GABRA3","GCM2","GNA11","GNB2","KCNJ1","KCNJ10","KCNJ18","PCBD1","PLVAP","POLRMT","RRAGD","SARS2","SLC12A1","SLC12A3","TBCE","TIAM1","TRPM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPERPHENYLALANINEMIA":{"collection":"C5:HPO","systematicName":"M36605","pmid":"","exactSource":"HP:0004923","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004923","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERPHENYLALANINEMIA","geneSymbols":["GCH1","PAH","PCBD1","PTS","QDPR","SPR"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_ORAL_GLUCOSE_TOLERANCE":{"collection":"C5:HPO","systematicName":"M36606","pmid":"","exactSource":"HP:0004924","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004924","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ORAL_GLUCOSE_TOLERANCE","geneSymbols":["ABCC8","APPL1","BLK","CEL","GCK","HNF1A","HNF4A","INS","KCNJ11","KLF11","NEUROD1","PAX4","PDX1","SLC5A1","SLC5A2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ORTHOSTATIC_HYPOTENSION_DUE_TO_AUTONOMIC_DYSFUNCTION":{"collection":"C5:HPO","systematicName":"M36607","pmid":"","exactSource":"HP:0004926","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004926","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ORTHOSTATIC_HYPOTENSION_DUE_TO_AUTONOMIC_DYSFUNCTION","geneSymbols":["ARSA","COQ2","DNAJC13","EIF4G1","GBA1","GIGYF2","GSN","LEP","LEPR","LMNB1","LRRK2","NTRK1","PSAP","SNCA","TTR","VPS35"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PULMONARY_ARTERY_DILATATION":{"collection":"C5:HPO","systematicName":"M36608","pmid":"","exactSource":"HP:0004927","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004927","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PULMONARY_ARTERY_DILATATION","geneSymbols":["ACTA2","ADAMTS19","BGN","COL3A1","COL5A1","EFEMP2","FBN1","FOXF1","IPO8","TGFBR1","TGFBR2","TLL1","TTC26"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_PULMONARY_VASCULATURE":{"collection":"C5:HPO","systematicName":"M36609","pmid":"","exactSource":"HP:0004930","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004930","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_PULMONARY_VASCULATURE","geneSymbols":["AASS","ACTA2","ACVR2B","ACVRL1","ADAMTS19","AFF4","AGGF1","ALDH18A1","ALDH1A2","ARHGAP31","ARSL","B3GLCT","BAZ1B","BCL11B","BCL7B","BCOR","BGN","BMPR2","BRAF","BUD23","CAV1","CBL","CCDC103","CCDC22","CCDC39","CCDC40","CCDC65","CCND1","CCNO","CCNQ","CDC42","CFAP221","CFAP298","CFAP300","CFAP53","CFAP74","CHD7","CIROP","CITED2","CLCN7","CLIP2","CNTN1","COL3A1","COL5A1","CRELD1","CRTAP","DGCR2","DGCR6","DGCR8","DHCR24","DLK1","DLL3","DLL4","DNAAF1","DNAAF11","DNAAF2","DNAAF3","DNAAF4","DNAAF5","DNAAF6","DNAH1","DNAH11","DNAH5","DNAH9","DNAI1","DNAI2","DNAJB13","DNAJC30","DNAL1","DOCK6","DRC1","DVL3","EDNRB","EFEMP2","EIF2AK4","EIF4H","ELN","ENG","EOGT","ESS2","FADD","FBLN5","FBN1","FGFR1","FKBP6","FLT4","FOXC2","FOXF1","FOXJ1","FRA10AC1","GAS2L2","GAS8","GATA1","GATA4","GATA6","GDF1","GPC3","GPC4","GPC6","GTF2I","GTF2IRD1","GTF2IRD2","HES7","HYDIN","IFT43","IPO8","ITPR1","JAG1","KITLG","KRAS","LFNG","LIFR","LIMK1","LMNA","LRRC56","LTBP1","LTBP4","LZTR1","MCIDAS","MED12","MEG3","MESP2","METTL27","MGP","MITF","MLXIPL","MMP21","MRAS","MYH7","MYRF","NAA10","NCF1","NEK10","NIPA1","NIPA2","NKX2-5","NKX2-6","NME5","NME8","NODAL","NOTCH1","NOTCH2","NRAS","ODAD1","ODAD2","ODAD3","ODAD4","OFD1","OTUD5","PAX6","PIGL","PIGN","PIGO","PKD1L1","PLD1","PLXND1","POLA1","PORCN","PPP1CB","PTPN11","RAF1","RASA2","RBPJ","RFC2","RIPPLY2","RIT1","RPGR","RPL10","RPS15A","RRAS","RRAS2","RSPH1","RSPH3","RSPH4A","RSPH9","RSPO2","RTL1","SFTPB","SKIC2","SKIC3","SLC2A10","SMAD2","SMAD4","SMARCA4","SMC1A","SMG8","SNAI2","SNX10","SOS1","SOS2","SOX10","SPAG1","SPEF2","SPRED2","STK36","STRA6","STX1A","TAOK1","TBL2","TBX1","TBX5","TCIRG1","TGFBR1","TGFBR2","TLL1","TMEM260","TMEM270","TMEM94","TNFSF11","TRAF7","TRAIP","TTC12","TTC26","TUBG1","TYR","UBE2A","VHL","VPS37D","WNT3","WNT4","WRN","WT1","ZEB2","ZIC3","ZMYND10"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_VASCULAR_CALCIFICATION":{"collection":"C5:HPO","systematicName":"M41304","pmid":"","exactSource":"HP:0004934","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004934","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VASCULAR_CALCIFICATION","geneSymbols":["ABCC6","ABCG5","ABCG8","ADAR","APOB","ENPP1","ERCC6","ERCC8","GALNT3","GATA5","GBA1","HGD","IFIH1","LDLR","LDLRAP1","LSM11","NKX2-5","NOTCH1","NT5E","PCSK9","PDGFB","PDGFRB","RNASEH2A","RNASEH2B","RNASEH2C","RNU7-1","SAMHD1","SLC20A2","SLC34A2","SMAD6","STAT1","TOM1","TREX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PULMONARY_ARTERY_ATRESIA":{"collection":"C5:HPO","systematicName":"M36611","pmid":"","exactSource":"HP:0004935","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004935","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PULMONARY_ARTERY_ATRESIA","geneSymbols":["ACVR2B","ARHGAP31","CHD7","CIROP","CRELD1","DGCR2","DGCR6","DGCR8","DLL4","DOCK6","DVL3","EOGT","ESS2","FADD","FLT4","FRA10AC1","GDF1","MMP21","NKX2-5","NKX2-6","NODAL","NOTCH1","OTUD5","PKD1L1","PLD1","PLXND1","RBPJ","SMARCA4","STRA6","TBX1","TMEM94","TRAF7"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_VENOUS_THROMBOSIS":{"collection":"C5:HPO","systematicName":"M36612","pmid":"","exactSource":"HP:0004936","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004936","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VENOUS_THROMBOSIS","geneSymbols":["ACVRL1","AGGF1","AKT1","ALG6","C4A","CALR","CASR","CBS","CCR1","CD55","CFTR","CPA1","CTLA4","CTNNB1","CTRC","ENG","EPAS1","EPOR","ERAP1","F13A1","F2","F5","F8","F9","FAS","FGA","FGB","FGG","GDF2","GNAQ","HABP2","HBB","HLA-B","HLA-DPA1","HLA-DPB1","IDH1","IDH2","IFNGR1","IL10","IL12A","IL12A-AS1","IL23R","JAK2","KCNN4","KIF11","KLRC4","MEFV","MET","MMACHC","MPL","MTHFR","MTRR","NOTCH1","PDGFRA","PGM1","PIEZO1","PIGA","PIGM","PMM2","PROC","PRORP","PROS1","PRSS1","PRSS2","PRTN3","PTEN","PTH1R","PTPN22","SAA1","SERPINC1","SERPIND1","SH2B3","SLC4A1","SMAD4","SPINK1","STAT4","TET2","TGFB2","THBD","THPO","TLR4","TP53","UBA1","UBAC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PULMONARY_ARTERY_ANEURYSM":{"collection":"C5:HPO","systematicName":"M36613","pmid":"","exactSource":"HP:0004937","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004937","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PULMONARY_ARTERY_ANEURYSM","geneSymbols":["BGN","COL3A1","COL5A1","EFEMP2","IPO8","TGFBR1","TGFBR2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_TORTUOUS_CEREBRAL_ARTERIES":{"collection":"C5:HPO","systematicName":"M47099","pmid":"","exactSource":"HP:0004938","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004938","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TORTUOUS_CEREBRAL_ARTERIES","geneSymbols":["ALDH18A1","APP","COL5A1","IPO8","SMAD3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_AORTIC_ANEURYSM":{"collection":"C5:HPO","systematicName":"M36614","pmid":"","exactSource":"HP:0004942","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004942","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AORTIC_ANEURYSM","geneSymbols":["ABL1","ACTA2","ADAMTS19","ADAR","AEBP1","AFF4","ALDH18A1","ALDH1A2","ALG5","ALG9","ANGPTL6","APC2","ARF1","ARFGEF2","ATP2B1","ATP6V1A","B3GALT6","B3GAT3","BAZ1B","BCL7B","BCR","BGN","BICC1","BRF1","BUD23","C12orf57","CARS1","CASZ1","CHD7","CHRNG","CHST3","CLIP2","COL1A1","COL1A2","COL3A1","COL5A1","COL5A2","CRKL","DNAJB11","DNAJC30","DNMT3A","DPH5","EFEMP2","EIF4H","ELN","ENG","ERCC6","ERCC8","ERMARD","FBLN5","FBN1","FBN2","FKBP6","FLNA","FLNB","FMR1","FOXE3","GABRD","GANAB","GATA5","GJA5","GJA8","GTF2I","GTF2IRD1","GTF2IRD2","HEY2","HGD","HLA-B","HLA-DRB1","HNRNPK","HSPG2","IFIH1","IFNG","IFT140","IL12B","IPO8","KANSL1","KCNAB2","KCNH1","LIMK1","LMNA","LOX","LSM11","LUZP1","MAP1B","MAPK1","MAT2A","MED12","METTL27","MFAP5","MID1","MLX","MLXIPL","MMP23B","MYH11","MYH3","MYLK","MYPN","NCF1","NEDD4L","NKAP","NKX2-5","NOD2","NODAL","NOTCH1","NOTCH3","NPR3","NSD1","NSMCE2","P4HA2","PDPN","PGM3","PIGN","PKD1","PKD2","PLOD1","PPP1CB","PRDM16","PRKCZ","PRKG1","PTEN","PTPN22","RAI1","RERE","RFC2","RIN2","RNASEH2A","RNASEH2B","RNASEH2C","RNU7-1","ROBO4","SAMHD1","SEMA3E","SETD2","SKI","SLC25A24","SLC2A10","SMAD2","SMAD3","SMAD4","SMAD6","SPECC1L","SPEN","SPTBN1","STX1A","TAB2","TBL2","TGFB2","TGFB3","TGFBR1","TGFBR2","TGFBR3","THSD1","THSD4","TMEM270","TMTC3","TNNT2","TPM2","TPM3","TREX1","TSC1","TSC2","UBE4B","VPS37D","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ACCELERATED_ATHEROSCLEROSIS":{"collection":"C5:HPO","systematicName":"M36615","pmid":"","exactSource":"HP:0004943","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004943","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACCELERATED_ATHEROSCLEROSIS","geneSymbols":["ABCA1","ABCC6","APOE","CELA2A","CYP7A1","LMNA","XYLT1","XYLT2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DILATATION_OF_THE_CEREBRAL_ARTERY":{"collection":"C5:HPO","systematicName":"M36616","pmid":"","exactSource":"HP:0004944","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004944","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DILATATION_OF_THE_CEREBRAL_ARTERY","geneSymbols":["ACTA2","ALG5","ALG9","ANGPTL6","BGN","BICC1","COL1A1","COL3A1","COL4A1","COL5A1","COL5A2","DNAJB11","ELN","ENG","FARSB","FBN1","FOXE3","GAA","GANAB","GGCX","HEY2","IFT140","IPO8","LOX","MAT2A","MFAP5","MYH11","MYLK","NF1","PCNT","PDE11A","PKD1","PKD2","PLOD3","PRKAR1A","PRKCSH","PRKG1","SMAD2","SMAD3","SMAD4","SPTBN1","STAT1","TGFB2","TGFB3","TGFBR1","TGFBR2","TGFBR3","THSD1","THSD4","TOM1","TONSL"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ARTERIOVENOUS_FISTULA":{"collection":"C5:HPO","systematicName":"M36617","pmid":"","exactSource":"HP:0004947","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004947","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ARTERIOVENOUS_FISTULA","geneSymbols":["ACVRL1","AGGF1","COL1A1","COL3A1","COL5A1","COL5A2","ENG","EPHB4","GDF2","RASA1","SMAD4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_VASCULAR_TORTUOSITY":{"collection":"C5:HPO","systematicName":"M36618","pmid":"","exactSource":"HP:0004948","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004948","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VASCULAR_TORTUOSITY","geneSymbols":["ALDH18A1","APP","ATP7A","COL5A1","DNAJC30","EFEMP2","FBLN5","IDH1","IPO8","MT-ATP6","MT-CO3","MT-CYB","MT-ND1","MT-ND2","MT-ND4","MT-ND4L","MT-ND5","MT-ND6","NEK1","NT5E","PCGF2","PYCR1","RASA1","SELENOI","SLC2A10","SMAD3","TGFB2","TGFBR1","TGFBR2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PERIPHERAL_ARTERIAL_STENOSIS":{"collection":"C5:HPO","systematicName":"M36619","pmid":"","exactSource":"HP:0004950","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004950","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERIPHERAL_ARTERIAL_STENOSIS","geneSymbols":["ABCC6","ABCG5","ABCG8","ACTA2","AGXT","APOB","APOE","ELN","FBN1","FOXE3","HEY2","IDS","JAK2","LDLR","LDLRAP1","LMNA","LOX","MAT2A","MFAP5","MPL","MYH11","MYLK","PCSK9","PRKG1","SMAD2","SMAD3","SMAD4","TGFB2","TGFB3","TGFBR1","TGFBR2","THPO","THSD4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_THORACIC_AORTA_CALCIFICATION":{"collection":"C5:HPO","systematicName":"M36621","pmid":"","exactSource":"HP:0004962","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004962","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THORACIC_AORTA_CALCIFICATION","geneSymbols":["GATA5","IFIH1","NKX2-5","NOTCH1","SMAD6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CALCIFICATION_OF_THE_AORTA":{"collection":"C5:HPO","systematicName":"M36622","pmid":"","exactSource":"HP:0004963","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004963","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CALCIFICATION_OF_THE_AORTA","geneSymbols":["ABCC6","ABCG5","ABCG8","ADAR","APOB","ENPP1","GATA5","GBA1","IFIH1","LDLR","LDLRAP1","LSM11","NKX2-5","NOTCH1","PCSK9","RNASEH2A","RNASEH2B","RNASEH2C","RNU7-1","SAMHD1","SLC34A2","SMAD6","TREX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PERIPHERAL_PULMONARY_ARTERY_STENOSIS":{"collection":"C5:HPO","systematicName":"M36623","pmid":"","exactSource":"HP:0004969","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004969","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERIPHERAL_PULMONARY_ARTERY_STENOSIS","geneSymbols":["ALDH18A1","BAZ1B","BCL7B","BCOR","BUD23","CCNQ","CLIP2","DNAJC30","EFEMP2","EIF4H","ELN","FBLN5","FGFR1","FKBP6","GTF2I","GTF2IRD1","GTF2IRD2","IFT43","JAG1","LIMK1","LTBP1","LTBP4","METTL27","MGP","MLXIPL","NAA10","NCF1","NOTCH2","PIGL","PIGN","PIGO","PPP1CB","RFC2","SKIC2","SKIC3","STX1A","TAOK1","TBL2","TMEM270","UBE2A","VPS37D"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ASCENDING_TUBULAR_AORTA_ANEURYSM":{"collection":"C5:HPO","systematicName":"M36624","pmid":"","exactSource":"HP:0004970","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004970","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ASCENDING_TUBULAR_AORTA_ANEURYSM","geneSymbols":["ACTA2","ADAMTS19","ATP6V1A","B3GALT6","BGN","BRF1","COL3A1","FBLN5","FBN1","FLNA","FMR1","GJA5","GJA8","HLA-B","IL12B","IPO8","LMNA","LOX","MED12","MLX","MYH11","NODAL","SMAD3","TGFB2","TGFBR2","THSD4","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PULMONARY_ARTERY_HYPOPLASIA":{"collection":"C5:HPO","systematicName":"M43301","pmid":"","exactSource":"HP:0004971","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004971","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PULMONARY_ARTERY_HYPOPLASIA","geneSymbols":["AASS","ALDH1A2","CCDC22","MGP","MMP21","MYH7","NKX2-6","PLXND1","TRAIP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ELEVATED_MEAN_ARTERIAL_PRESSURE":{"collection":"C5:HPO","systematicName":"M36625","pmid":"","exactSource":"HP:0004972","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004972","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELEVATED_MEAN_ARTERIAL_PRESSURE","geneSymbols":["ADD1","AGT","AGTR1","ATP1B1","CYP3A5","ECE1","GNB3","NOS3","PTGIS","RGS5"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ERLENMEYER_FLASK_DEFORMITY_OF_THE_FEMURS":{"collection":"C5:HPO","systematicName":"M36626","pmid":"","exactSource":"HP:0004975","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004975","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ERLENMEYER_FLASK_DEFORMITY_OF_THE_FEMURS","geneSymbols":["ABCC9","ANKH","CLCN7","CSF1R","GBA1","PLEKHM1","PSAP","TCIRG1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_KNEE_DISLOCATION":{"collection":"C5:HPO","systematicName":"M36627","pmid":"","exactSource":"HP:0004976","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004976","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_KNEE_DISLOCATION","geneSymbols":["AEBP1","B3GAT3","BPNT2","CHST3","COL1A1","EXOC6B","FLNB","HNRNPH1","RYR1","SLC10A7","SLC35A3","SLC35B2","SYNE1","TTC26","XYLT1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_METAPHYSEAL_SCLEROSIS":{"collection":"C5:HPO","systematicName":"M36628","pmid":"","exactSource":"HP:0004979","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004979","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_METAPHYSEAL_SCLEROSIS","geneSymbols":["ACP5","ANAPC1","CENPE","COL10A1","COL2A1","CTC1","DNAJC21","KIF22","MMP13","RECQL4","SBDS","SRP54"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MESOMELIC_LEG_SHORTENING":{"collection":"C5:HPO","systematicName":"M46106","pmid":"","exactSource":"HP:0004987","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004987","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MESOMELIC_LEG_SHORTENING","geneSymbols":["EIF4A3","FLNA","GLI3","NEK1","TBX15"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RHIZOMELIC_ARM_SHORTENING":{"collection":"C5:HPO","systematicName":"M36629","pmid":"","exactSource":"HP:0004991","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004991","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RHIZOMELIC_ARM_SHORTENING","geneSymbols":["COL2A1","CSPP1","DYM","FGFR2","FZD2","GPX4","KIAA0586","MYSM1","SLC26A2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SLENDER_LONG_BONES_WITH_NARROW_DIAPHYSES":{"collection":"C5:HPO","systematicName":"M46107","pmid":"","exactSource":"HP:0004993","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0004993","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SLENDER_LONG_BONES_WITH_NARROW_DIAPHYSES","geneSymbols":["ATP6V0A2","B3GALT6","FIG4","HNRNPH1","VAC14"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RECURRENT_PATELLAR_DISLOCATION":{"collection":"C5:HPO","systematicName":"M47100","pmid":"","exactSource":"HP:0005001","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005001","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_PATELLAR_DISLOCATION","geneSymbols":["BPNT2","MAB21L2","PIEZO2","PRKACB","RYR1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APLASIA_HYPOPLASIA_OF_THE_CAPITAL_FEMORAL_EPIPHYSIS":{"collection":"C5:HPO","systematicName":"M36630","pmid":"","exactSource":"HP:0005003","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005003","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_CAPITAL_FEMORAL_EPIPHYSIS","geneSymbols":["ADAMTSL2","CANT1","CDC6","CHST3","COG1","COL11A2","COL2A1","COMP","DYM","EXTL3","GLB1","HS2ST1","IFT140","KIF22","MATN3","PIK3C2A","PLOD3","SMARCAL1","TRAPPC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DIAPHYSEAL_THICKENING":{"collection":"C5:HPO","systematicName":"M36631","pmid":"","exactSource":"HP:0005019","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005019","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DIAPHYSEAL_THICKENING","geneSymbols":["GUSB","IDS","IDUA","INPPL1","LBR","LRP4","LRP5","PTDSS1","RMRP","SHOX","SLC35D1","SOST","SP7","TBXAS1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SHORTENING_OF_ALL_PHALANGES_OF_THE_TOES":{"collection":"C5:HPO","systematicName":"M36632","pmid":"","exactSource":"HP:0005035","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005035","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORTENING_OF_ALL_PHALANGES_OF_THE_TOES","geneSymbols":["ARSL","FIG4","KCNH1","NOG","PIGF","SOX9","TRPV4","VAC14"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PROXIMAL_RADIO_ULNAR_SYNOSTOSIS":{"collection":"C5:HPO","systematicName":"M36633","pmid":"","exactSource":"HP:0005037","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005037","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROXIMAL_RADIO_ULNAR_SYNOSTOSIS","geneSymbols":["B3GALT6","CHSY1","FGFR2","FGFR3","HOXA11","TWIST1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_IRREGULAR_CAPITAL_FEMORAL_EPIPHYSIS":{"collection":"C5:HPO","systematicName":"M43302","pmid":"","exactSource":"HP:0005041","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005041","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IRREGULAR_CAPITAL_FEMORAL_EPIPHYSIS","geneSymbols":["ADAMTSL2","COL9A1","PEX5","RNU4ATAC","TRPV4","UFSP2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SYNOSTOSIS_OF_CARPAL_BONES":{"collection":"C5:HPO","systematicName":"M36634","pmid":"","exactSource":"HP:0005048","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005048","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SYNOSTOSIS_OF_CARPAL_BONES","geneSymbols":["APC","BHLHA9","BMPR1B","DYNC2LI1","ESCO2","EVC","EVC2","FGFR2","FLNA","GDF5","GLI1","HOXA13","LMBR1","LRP4","MACROH2A1","MAP3K7","NOG","NXN","PAX3","PITX1","PRKACA","PRKACB","ROR2","SALL4","SHH","SMOC1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_METAPHYSEAL_SPURS":{"collection":"C5:HPO","systematicName":"M41305","pmid":"","exactSource":"HP:0005054","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005054","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_METAPHYSEAL_SPURS","geneSymbols":["ATP7A","COL2A1","DLK1","DYNC2H1","MATN3","MEG3","PCYT1A","RTL1","TRAPPC2","TRPV6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPEREXTENSIBILITY_AT_WRISTS":{"collection":"C5:HPO","systematicName":"M36635","pmid":"","exactSource":"HP:0005072","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005072","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPEREXTENSIBILITY_AT_WRISTS","geneSymbols":["COL12A1","COL6A1","COL6A2","COL6A3","HYAL1","PYCR2","RNF13"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_KNEE_OSTEOARTHRITIS":{"collection":"C5:HPO","systematicName":"M43303","pmid":"","exactSource":"HP:0005086","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005086","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_KNEE_OSTEOARTHRITIS","geneSymbols":["ANKRD55","CD247","COL11A1","COL2A1","COL9A2","IL2RA","IL2RB","MMP13","PRG4","PTPN2","PTPN22","SMAD2","SMAD3","STAT4","TRAPPC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_METAPHYSEAL_TRABECULATION":{"collection":"C5:HPO","systematicName":"M41306","pmid":"","exactSource":"HP:0005089","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005089","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_METAPHYSEAL_TRABECULATION","geneSymbols":["AMER1","CTC1","DKC1","LIFR","NHP2","NOP10","NOTCH2","NPM1","PARN","PLCB3","PORCN","RTEL1","SLC29A3","TCIRG1","TERC","TERT","TINF2","TNFRSF11A","TNFRSF11B","TRPV4","TYMS","USB1","VDR","WRAP53"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HIGH_FREQUENCY_HEARING_IMPAIRMENT":{"collection":"C5:HPO","systematicName":"M36636","pmid":"","exactSource":"HP:0005101","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005101","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HIGH_FREQUENCY_HEARING_IMPAIRMENT","geneSymbols":["AP1S2","DSPP","GJB3","LMX1A","MYH9","POLRMT","RPGR","SMPX"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_NASAL_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M47101","pmid":"","exactSource":"HP:0005105","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005105","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_NASAL_MORPHOLOGY","geneSymbols":["AARS1","AASS","ABCA12","ABCA4","ABCA5","ABCC8","ABCC9","ABCD1","ABL1","ACAN","ACER3","ACOX1","ACP5","ACSL4","ACTB","ACTG1","ACTG2","ACTL6B","ACVRL1","ACY1","ADA2","ADAMTS10","ADAMTS18","ADAMTS2","ADAMTS3","ADAMTSL1","ADAMTSL2","ADAR","ADAT3","ADGRG6","ADNP","ADSL","AFF2","AFF3","AFF4","AGA","AGBL5","AGL","AGO1","AGO2","AHDC1","AHI1","AHR","AHSG","AIFM1","AIMP2","AIP","AKT1","AKT3","ALDH18A1","ALDH1A2","ALDH6A1","ALG12","ALG13","ALG2","ALG3","ALG9","ALX1","ALX3","ALX4","AMER1","AMMECR1","ANK1","ANKH","ANKRD11","ANKRD17","ANTXR1","AP1S2","AP2M1","AP3B1","AP4B1","AP4E1","AP4M1","AP4S1","APC","APC2","ARHGEF18","ARID1A","ARID1B","ARID2","ARL13B","ARL2BP","ARL3","ARL6","ARMC9","ARSB","ARSK","ARSL","ARVCF","ARX","ASH1L","ASNS","ASPH","ASXL1","ASXL2","ASXL3","ATAD3A","ATIC","ATN1","ATP6V0A2","ATP6V1A","ATP6V1B2","ATP6V1E1","ATP7A","ATPAF2","ATR","ATRIP","ATRX","AUTS2","AVP","B3GALT6","B3GAT3","B3GLCT","B4GALT1","B4GALT7","B9D1","B9D2","BANF1","BAP1","BAZ1B","BBIP1","BBS1","BBS10","BBS12","BBS2","BBS4","BBS5","BBS7","BBS9","BCAP31","BCAS3","BCL11A","BCL11B","BCL7B","BCOR","BCORL1","BCR","BEST1","BICRA","BLM","BLTP1","BMP2","BMPER","BMPR1A","BMPR1B","BNC2","BPNT2","BPTF","BRAF","BRCA1","BRCC3","BRD4","BRF1","BRPF1","BTNL2","BUB1","BUB1B","BUB3","BUD23","C12orf57","C2CD3","CA4","CACNA1B","CACNA1C","CACNA1G","CAMKMT","CAMSAP1","CAMTA1","CANT1","CAPN15","CARS1","CASK","CASZ1","CAV1","CBL","CBY1","CC2D2A","CCBE1","CCDC103","CCDC22","CCDC39","CCDC40","CCDC47","CCDC65","CCDC8","CCDC88A","CCND2","CCNK","CCNO","CCNQ","CD96","CDC42","CDC42BPB","CDCA7","CDH11","CDH2","CDHR1","CDK10","CDK13","CDK19","CDK5RAP2","CDKL5","CDKN1C","CDON","CEACAM3","CEACAM6","CENPE","CENPF","CENPJ","CENPT","CEP104","CEP120","CEP152","CEP19","CEP290","CEP41","CEP55","CEP57","CERKL","CERT1","CFAP221","CFAP298","CFAP300","CFAP418","CFAP74","CFTR","CHD2","CHD3","CHD5","CHD7","CHD8","CHMP1A","CHN1","CHRNA1","CHRNA7","CHRND","CHRNG","CHST14","CHST3","CHSY1","CILK1","CIT","CITED2","CKAP2L","CLCA4","CLCF1","CLCN3","CLIC2","CLIP2","CLP1","CLPB","CLRN1","CLTCL1","CNGA1","CNGB1","CNOT1","CNOT2","CNOT3","COG1","COG4","COG5","COG6","COG7","COG8","COL11A1","COL11A2","COL18A1","COL1A1","COL1A2","COL27A1","COL2A1","COL3A1","COL5A1","COL9A3","COLEC10","COLEC11","COMT","COX4I1","COX7B","CPLANE1","CPLX1","CPSF3","CPT2","CRB1","CREBBP","CRIPT","CRKL","CRLF1","CRX","CSF1R","CSGALNACT1","CSNK2A1","CSPP1","CTBP1","CTCF","CTNNB1","CTNND2","CTSD","CTSK","CTU2","CUL4B","CUL7","CUX1","CWC27","DCAF17","DCHS1","DCPS","DCTN4","DDB1","DDB2","DDR2","DDX3X","DEAF1","DENND5A","DGCR2","DGCR6","DGCR8","DHCR24","DHCR7","DHDDS","DHPS","DHX30","DHX37","DHX38","DICER1","DIS3L2","DISP1","DLK1","DLL1","DLL3","DLX4","DMXL2","DNA2","DNAAF1","DNAAF11","DNAAF2","DNAAF3","DNAAF4","DNAAF5","DNAAF6","DNAH1","DNAH11","DNAH5","DNAH9","DNAI1","DNAI2","DNAJB13","DNAJC30","DNAL1","DNMT3A","DNMT3B","DOCK3","DOCK6","DOCK7","DOK7","DONSON","DPF2","DPH1","DPH2","DPH5","DPM1","DPM2","DPYD","DPYSL5","DRC1","DSE","DUOX2","DUOXA2","DUSP6","DVL1","DVL3","DYNC1I2","DYNC2H1","DYNC2I1","DYNC2I2","DYNC2LI1","DYRK1A","DZIP1L","EBF3","EBP","ECE1","ECEL1","ECM1","EDA","EDA2R","EDAR","EDARADD","EDEM3","EDN3","EDNRA","EDNRB","EED","EEF1A2","EFEMP2","EFNB1","EFTUD2","EHMT1","EIF2AK3","EIF2S3","EIF4A3","EIF4H","EIF5A","ELN","EMG1","ENG","EP300","EPG5","ERCC1","ERCC2","ERCC3","ERCC4","ERCC5","ERCC6","ERCC8","ERF","ESCO2","ESS2","ETFA","ETFB","ETFDH","EXOC2","EXOSC1","EXOSC2","EXOSC5","EXT1","EXT2","EXTL3","EYA1","EYS","EZH2","FAM149B1","FAM161A","FAM20C","FANCL","FAR1","FAT4","FBN1","FBXL3","FBXL4","FBXO28","FBXO31","FCGR2A","FDFT1","FGD1","FGF17","FGF20","FGF3","FGF8","FGFR1","FGFR2","FGFR3","FGFRL1","FH","FHL1","FIG4","FKBP6","FLCN","FLI1","FLII","FLNA","FLNB","FLT4","FMR1","FOCAD","FOXA2","FOXC1","FOXG1","FOXH1","FOXJ1","FOXL2","FOXP1","FOXP2","FRA10AC1","FRAS1","FREM1","FREM2","FRMD4A","FRMPD4","FSCN2","FTO","FTSJ1","FUCA1","FUT8","FZD2","G6PC3","GABRA3","GABRD","GAD1","GALNT2","GAS1","GAS2L2","GAS8","GATA1","GATA4","GATA5","GATA6","GATAD2B","GBA1","GCLC","GDF1","GDF11","GDF5","GFRA1","GGCX","GH1","GHR","GJA1","GJA5","GJA8","GLB1","GLI2","GLI3","GLIS3","GLUL","GMNN","GMPPA","GNAI1","GNAO1","GNAS","GNB2","GNE","GNPAT","GNPTAB","GNRH1","GNRHR","GNS","GOLGA2","GP1BB","GPAA1","GPC3","GPC4","GPC6","GPR101","GPRASP2","GPX4","GREB1L","GRIN1","GRIN2A","GRIP1","GRM7","GSTM3","GTF2I","GTF2IRD1","GTF2IRD2","GTPBP2","GUCA1B","H3-3A","H3-3B","H4C11","H4C3","H4C5","H4C9","HBA1","HBA2","HBB","HCCS","HDAC4","HDAC6","HDAC8","HEATR3","HECTD4","HECW2","HELLS","HEPACAM","HERC1","HERC2","HES7","HESX1","HFE","HGSNAT","HIC1","HIRA","HIVEP2","HK1","HLA-DRB1","HMGA2","HMOX1","HNRNPH1","HNRNPH2","HNRNPK","HNRNPR","HOXB1","HPDL","HRAS","HS2ST1","HS6ST1","HSD17B4","HSPA9","HSPG2","HUWE1","HYAL1","HYDIN","HYLS1","HYMAI","HYOU1","IARS2","IDH3A","IDH3B","IDS","IDUA","IER3IP1","IFIH1","IFT122","IFT140","IFT172","IFT27","IFT43","IFT52","IFT57","IFT74","IFT80","IFT81","IFT88","IGBP1","IGF1","IGF1R","IL11RA","IL1RAPL1","IL2RA","IL6ST","IMPDH1","IMPG1","IMPG2","INPP5E","INPPL1","INSR","INTS1","INTU","IPO8","IQSEC2","IRF6","IRX5","ITCH","ITGA3","ITGA8","ITGB6","IYD","JAG1","JARID2","JMJD1C","KANSL1","KAT5","KAT6A","KAT6B","KAT8","KATNB1","KATNIP","KCNA1","KCNAB2","KCNE5","KCNH1","KCNJ11","KCNJ2","KCNJ5","KCNJ6","KCNJ8","KCNK9","KCNMA1","KCNN3","KCNN4","KCTD1","KDF1","KDM1A","KDM3B","KDM4B","KDM5B","KDM5C","KDM6A","KDM6B","KDR","KIAA0586","KIAA0753","KIAA1549","KIF11","KIF14","KIF15","KIF1A","KIF21A","KIF7","KIFBP","KISS1","KISS1R","KIT","KIZ","KLHL15","KLHL7","KMT2A","KMT2B","KMT2D","KMT5B","KNL1","KNSTRN","KPTN","KRAS","KREMEN1","KYNU","LAMA5","LARP7","LAS1L","LBR","LEMD2","LEMD3","LETM1","LFNG","LHX3","LHX4","LIFR","LIG4","LIMK1","LINS1","LMBR1","LMBRD2","LMNA","LMNB1","LMX1B","LONP1","LRAT","LRP2","LRP4","LRPPRC","LRRC56","LSM11","LSS","LTBP1","LTBP3","LTBP4","LUZP1","LZTFL1","MAB21L1","MACF1","MADD","MAF","MAFB","MAGEL2","MAK","MAN1B1","MAN2B1","MAN2C1","MAP2K1","MAP2K2","MAP3K7","MAPK1","MAPK8IP3","MAPKAPK5","MAPRE2","MARS2","MASP1","MBD5","MBTPS2","MCIDAS","MCOLN1","MCTP2","MDH1","MDM2","MECP2","MED12","MED12L","MED13","MED13L","MED25","MED27","MEF2C","MEG3","MEGF8","MEIS2","MERTK","MESD","MESP2","METTL23","METTL27","METTL5","MGAT2","MGP","MIA3","MICU1","MID1","MIF","MINPP1","MIPEP","MIR140","MITF","MKKS","MKRN3","MKS1","MLXIPL","MMP2","MMP23B","MN1","MOCS1","MOCS2","MOGS","MPDZ","MPLKIP","MRAS","MRPS14","MSL3","MSX1","MTHFR","MTOR","MTX2","MUSK","MVK","MYCN","MYH3","MYMK","MYMX","MYO18B","MYOD1","MYRF","MYT1L","NAA10","NACC1","NAGA","NALCN","NANS","NARS2","NBN","NCAPG2","NCF1","NDE1","NDP","NDUFB11","NECTIN1","NEDD4L","NEK1","NEK10","NEK2","NEK9","NELFA","NEPRO","NEU1","NEUROD2","NEXMIF","NF1","NFASC","NFIA","NFIB","NFIX","NFKBIA","NGLY1","NHEJ1","NHLH2","NHS","NIN","NIPBL","NKX2-5","NKX2-6","NME5","NME8","NMNAT1","NODAL","NOG","NONO","NOTCH2","NOTCH3","NOVA2","NPAP1","NPHP1","NPR2","NR2E3","NR2F1","NRAS","NRCAM","NRL","NSD1","NSD2","NSDHL","NSMCE3","NSMF","NSRP1","NSUN2","NUAK2","NUDT2","NUP188","NUP85","NUP88","NXN","OBSL1","OCLN","ODAD1","ODAD2","ODAD3","ODAD4","ODC1","OFD1","OPHN1","ORC4","ORC6","OTUD6B","OTX2","P4HTM","PACS1","PACS2","PAFAH1B1","PAH","PAICS","PAK2","PAK3","PAM16","PARS2","PAX1","PAX3","PAX7","PBX1","PCARE","PCDHGC4","PCGF2","PCLO","PCNT","PDE4D","PDE6A","PDE6B","PDE6D","PDE6G","PDGFRB","PDHA1","PDPN","PEPD","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PEX7","PGAP1","PGAP2","PGAP3","PGM2L1","PHF21A","PHF8","PHGDH","PHIP","PIBF1","PIEZO2","PIGA","PIGB","PIGF","PIGG","PIGL","PIGN","PIGO","PIGP","PIGQ","PIGS","PIGT","PIGU","PIGV","PIGW","PIGY","PIK3C2A","PIK3CA","PIK3CD","PIK3R1","PIK3R2","PITX1","PITX2","PKDCC","PKHD1","PLA2G6","PLAA","PLAGL1","PLCB3","PLCH1","PLEC","PLK4","PLOD1","PLOD3","PLXNA1","PMM2","PNKP","POC1A","POGZ","POLA1","POLD1","POLE","POLG2","POLR1A","POLR1B","POLR1C","POLR1D","POLR3A","POLRMT","POMGNT1","POR","PORCN","POU1F1","POU4F1","PPM1B","PPM1D","PPP1CB","PPP1R12A","PPP1R15B","PPP1R21","PPP2CA","PPP2R1A","PPP2R3C","PPP2R5D","PPP3CA","PQBP1","PRCD","PRDM16","PREPL","PRIM1","PRKACA","PRKACB","PRKAR1A","PRKAR1B","PRKCZ","PRKD1","PRKDC","PRKG2","PRMT7","PROK2","PROKR2","PROM1","PROP1","PRPF3","PRPF31","PRPF4","PRPF6","PRPF8","PRPH2","PRPS1","PRRX1","PSAT1","PSMB8","PSMC1","PSMD12","PTCH1","PTCH2","PTEN","PTF1A","PTGER2","PTH1R","PTPN11","PTPRF","PUF60","PUM1","PURA","PUS1","PUS7","PWAR1","PWRN1","PYCR1","PYCR2","QARS1","QRICH1","RAB18","RAB23","RAB3GAP1","RAB3GAP2","RAC1","RAC3","RAD21","RAF1","RAI1","RALA","RALGAPA1","RAPSN","RARB","RARS2","RB1","RBBP8","RBL2","RBM10","RBM8A","RBMX","RBP3","RDH11","RDH12","RECQL","RECQL4","REEP6","RELN","RERE","RET","RFC2","RFX7","RGR","RHO","RHOA","RHOBTB2","RIC1","RIN2","RIPK4","RIPPLY2","RLBP1","RLIM","RMRP","RNASEH2A","RNASEH2B","RNASEH2C","RNF125","RNF13","RNF135","RNF2","RNU4ATAC","RNU7-1","ROM1","ROR2","RP1","RP1L1","RP2","RP9","RPE65","RPGR","RPGRIP1","RPGRIP1L","RPL10","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS23","RPS24","RPS26","RPS27","RPS28","RPS29","RPS6KA3","RPS7","RREB1","RSPH1","RSPH3","RSPH4A","RSPH9","RSPO2","RSPRY1","RSRC1","RTL1","RTTN","RUNX2","RUSC2","RYR1","RYR3","SAG","SALL4","SAMHD1","SATB2","SC5D","SCAPER","SCARF2","SCLT1","SCN1A","SCN1B","SCN2A","SCN4A","SCNM1","SCO2","SCUBE3","SCYL2","SDCCAG8","SEC23A","SEC24C","SEMA3E","SEMA4A","SEMA5A","SEPTIN9","SERPINA1","SET","SETBP1","SETD1A","SETD2","SETD5","SF3B4","SH2B1","SH3PXD2B","SHANK3","SHH","SHOC2","SHOX","SHROOM4","SIK1","SIM1","SIN3A","SIX2","SIX3","SKI","SKIC2","SKIC3","SLC11A1","SLC12A6","SLC17A5","SLC18A3","SLC1A4","SLC25A22","SLC25A24","SLC25A46","SLC26A2","SLC26A9","SLC29A3","SLC2A1","SLC2A10","SLC32A1","SLC35A2","SLC35C1","SLC35D1","SLC37A4","SLC39A13","SLC3A1","SLC45A1","SLC5A5","SLC6A1","SLC6A14","SLC6A9","SLC7A14","SLC9A3","SLC9A6","SLF2","SLX4","SMAD4","SMARCA2","SMARCA4","SMARCAL1","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SMC1A","SMC3","SMC5","SMCHD1","SMG8","SMG9","SMO","SMOC1","SMPD4","SMS","SNAI2","SNAP29","SNIP1","SNORD115-1","SNORD116-1","SNRNP200","SNRPN","SNX14","SON","SOS1","SOST","SOX10","SOX11","SOX18","SOX3","SOX4","SOX5","SOX6","SOX9","SP7","SPAG1","SPART","SPATA5","SPATA5L1","SPATA7","SPECC1L","SPEF2","SPEN","SPOP","SPRED2","SPRTN","SPRY4","SPTBN1","SRCAP","SRD5A3","STAG1","STAG2","STAMBP","STAT3","STAT5B","STIL","STIM1","STING1","STK11","STK36","STRA6","STRADA","STT3A","STX16","STX1A","STXBP1","SUFU","SUMF1","SUPT16H","SUZ12","SVBP","SYNE1","SYNGAP1","SYT1","TAB2","TAC3","TACR3","TAF1","TAF6","TALDO1","TAOK1","TAP1","TAP2","TAPBP","TAPT1","TASP1","TBC1D20","TBC1D23","TBC1D24","TBCD","TBCE","TBCK","TBL1XR1","TBL2","TBX1","TBX2","TBX21","TBX4","TBX6","TCF20","TCF3","TCF4","TCOF1","TCTN1","TCTN2","TCTN3","TDGF1","TENT5A","TFAP2A","TFAP2B","TFE3","TG","TGDS","TGFB1","TGFB3","TGIF1","THOC6","THSD1","THUMPD1","TLK2","TMCO1","TMEM107","TMEM138","TMEM147","TMEM216","TMEM218","TMEM231","TMEM237","TMEM270","TMEM53","TMEM67","TMEM70","TMEM94","TMLHE","TNNI2","TNNT3","TNPO2","TOE1","TOGARAM1","TONSL","TOPORS","TOR1A","TP63","TPM2","TPO","TPR","TRAF6","TRAIP","TRAPPC9","TREX1","TRIM32","TRIM37","TRIM8","TRIO","TRIP11","TRIP12","TRIP13","TRMT1","TRMT10A","TRPM3","TRPS1","TRPV4","TRPV6","TRRAP","TSHB","TSPEAR","TSR2","TTC12","TTC26","TTC5","TTC8","TTI2","TUB","TUBA1A","TUBB","TUBGCP2","TUBGCP4","TUBGCP6","TULP1","TWIST1","TWIST2","TXNDC15","TXNL4A","UBA1","UBE2A","UBE3B","UBE4B","UBR1","UFC1","UFD1","UGP2","UMPS","UNC119","UNC80","UPF3B","UQCC2","USB1","USH1G","USH2A","USP9X","VAC14","VANGL2","VARS1","VDR","VPS13B","VPS33A","VPS35L","VPS37D","VPS51","VPS53","WAC","WARS1","WARS2","WASHC4","WASHC5","WBP11","WDPCP","WDR11","WDR19","WDR26","WDR35","WDR37","WDR4","WDR62","WDR73","WLS","WNT3","WNT5A","WNT7A","WNT9B","WRN","WWOX","XPA","XPC","XRCC4","XYLT1","YARS1","YARS2","YWHAE","YY1","ZBTB18","ZBTB20","ZBTB24","ZC4H2","ZDHHC9","ZEB2","ZFPM2","ZIC2","ZMIZ1","ZMPSTE24","ZMYM2","ZMYND10","ZNF148","ZNF292","ZNF335","ZNF341","ZNF408","ZNF423","ZNF462","ZNF513","ZNF526","ZNF668","ZNF699","ZNHIT3","ZPR1","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_VERTEBRAL_ENDPLATES":{"collection":"C5:HPO","systematicName":"M36638","pmid":"","exactSource":"HP:0005106","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005106","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_VERTEBRAL_ENDPLATES","geneSymbols":["ACP5","B3GALT6","CCN6","CHST3","CLCN7","COG4","COL10A1","COL2A1","COL9A1","COL9A2","COL9A3","COMP","DMP1","DYM","EIF2AK3","ENPP1","EXOC6B","FN1","GNPAT","GORAB","IDH1","KIF22","LRRK1","MMP13","NANS","PAPSS2","PDE4D","POLR3A","RNU4ATAC","SLC10A7","SLC29A3","SLC39A13","SOST","TCIRG1","TNFRSF11A","TONSL","TRAPPC2","ZBTB20"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_SACRUM_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M36639","pmid":"","exactSource":"HP:0005107","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005107","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SACRUM_MORPHOLOGY","geneSymbols":["AEBP1","AFF3","ANK1","APC2","ARID1B","ASXL1","B3GLCT","B9D2","BAP1","BAZ1B","BCL7B","BICD2","BMPER","BUD23","CAMK2G","CAPN15","CCL2","CD96","CDK10","CLIP2","COL2A1","COLEC10","COX7B","CPLX1","CTBP1","CTCF","DCHS1","DEAF1","DHCR7","DHPS","DICER1","DMP1","DNAJC30","DVL1","DVL3","DYRK1A","EBP","EIF4H","ELN","ENPP1","ERF","EXTL3","FANCB","FANCF","FANCL","FAT4","FGF20","FGFR2","FGFR3","FGFRL1","FKBP6","FLNB","FUCA1","FUZ","FZD2","GDF3","GDF6","GFRA1","GNB2","GNS","GREB1L","GTF2I","GTF2IRD1","GTF2IRD2","H4C5","HAAO","HCCS","HIC1","HLA-B","HNRNPK","HOXA13","HOXD13","IL6ST","ITGA8","KANSL1","KCNK9","KIF15","KMT2A","LBR","LETM1","LIFR","LIG4","LIMK1","MAN2C1","MASP1","MED12","MEOX1","METTL27","MLXIPL","MNX1","NADSYN1","NCAPG2","NCF1","NDUFB11","NELFA","NODAL","NOTCH3","NSD1","NSD2","NSUN2","NXN","ODC1","OTUD6B","PAFAH1B1","PAM16","PDGFRB","PHEX","PIGG","POC1A","POLA1","PRMT7","PRR12","PSMD12","PTH1R","RAB23","RET","RFC2","RMRP","ROR2","RPL10","RPS19","RTTN","RUNX2","SCARF2","SETBP1","SETD2","SETD5","SHANK3","SLC26A2","SMC5","SMG9","SMOC1","SPOP","SRD5A3","STX1A","SUGCT","TAF1","TBL2","TBX1","TBX4","TBX6","TBXT","TCF4","TMCO1","TMEM270","TNFRSF1A","TP63","TRIP11","TWIST2","USP9X","VANGL1","VANGL2","VPS37D","WLS","WNT5A","WNT7A","WNT9B","YWHAE","ZIC3","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_INTERVERTEBRAL_DISK_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M36640","pmid":"","exactSource":"HP:0005108","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005108","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_INTERVERTEBRAL_DISK_MORPHOLOGY","geneSymbols":["ACP5","ANKH","BPNT2","CHST3","COL2A1","COL9A1","DLL3","EXTL3","FN1","GON7","HES7","HGD","HOXD13","LAGE3","LFNG","LMNA","LTBP3","MAP3K7","MATN3","MESP2","MT-ATP8","MT-TL1","NT5E","NUP107","NUP133","OSGEP","PLCB3","PPP1CB","RIPPLY2","RNU4ATAC","RRM2B","SHOC2","SLC26A2","SMAD2","SMAD3","TBX1","TMEM53","TNFRSF11B","TP53RK","TPRKB","TRAPPC2","TRPV4","WDR4","WDR73","XYLT2","YRDC"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_ACHILLES_TENDON":{"collection":"C5:HPO","systematicName":"M36641","pmid":"","exactSource":"HP:0005109","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005109","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_ACHILLES_TENDON","geneSymbols":["ABCC9","ABHD12","ACTA1","ADAT3","ALS2","ARL6IP1","BICD2","COL12A1","COL6A1","COL6A2","COL6A3","CRPPA","CYP27A1","DMD","EMD","FHL1","FKRP","FKTN","GAN","GJB1","GNS","HGD","HINT1","HRAS","JAG2","KL","KRT1","KY","LARGE1","LMNA","LMX1B","MARS1","MEGF10","MT-TE","MYOT","NGLY1","NSUN2","OPA1","PLEC","POMT1","POU3F4","PRKCG","PTRH2","PYROXD1","SCN4A","SGCA","SGCG","SLC12A6","SLC25A4","SLC39A14","SYNE1","SYNE2","TFG","TMEM43","TNNT1","TTN","UFC1","ZC4H2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABDOMINAL_AORTIC_ANEURYSM":{"collection":"C5:HPO","systematicName":"M36642","pmid":"","exactSource":"HP:0005112","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005112","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABDOMINAL_AORTIC_ANEURYSM","geneSymbols":["ACTA2","ELN","FBN1","FOXE3","HEY2","HLA-B","HLA-DRB1","LOX","MAT2A","MFAP5","MYH11","MYLK","NSMCE2","P4HA2","PRKG1","PTPN22","SMAD2","SMAD3","SMAD4","TGFB2","TGFB3","TGFBR1","TGFBR2","THSD4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_AORTIC_ARCH_ANEURYSM":{"collection":"C5:HPO","systematicName":"M36643","pmid":"","exactSource":"HP:0005113","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005113","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AORTIC_ARCH_ANEURYSM","geneSymbols":["ACTA2","BAZ1B","BCL7B","BUD23","CASZ1","CHD7","CLIP2","DNAJC30","EIF4H","ELN","FKBP6","GABRD","GATA5","GTF2I","GTF2IRD1","GTF2IRD2","HSPG2","KCNAB2","KCNH1","LIMK1","LOX","LUZP1","METTL27","MLXIPL","MMP23B","NCF1","NKX2-5","NOTCH1","PDPN","PRDM16","PRKCZ","RERE","RFC2","SEMA3E","SKI","SMAD6","SPEN","STX1A","TBL2","TGFBR2","TMEM270","UBE4B","VPS37D"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SUPRAVENTRICULAR_ARRHYTHMIA":{"collection":"C5:HPO","systematicName":"M36644","pmid":"","exactSource":"HP:0005115","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005115","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUPRAVENTRICULAR_ARRHYTHMIA","geneSymbols":["ABCC9","ACTC1","ACTN2","AKAP9","ANK2","APRT","BMP2","CACNA1C","CACNA1S","CACNA2D1","CACNB2","CASQ2","CAVIN1","CDH23","CITED2","CIZ1","CLIC2","COL4A1","COX7B","CSRP3","DBH","DES","DMPK","DNMT3A","DTNA","EMD","FHL1","FHOD3","FLAD1","FLNC","GATA4","GATA5","GATA6","GATAD1","GJA5","GNB2","GPD1L","HCCS","HCN4","JPH2","KCNA5","KCND3","KCNE1","KCNE2","KCNE3","KCNE5","KCNH2","KCNJ2","KCNJ3","KCNJ5","KCNJ8","KCNK3","KCNQ1","KCTD1","KIF20A","LAMP2","LMNA","LMOD2","LRP12","MFAP5","MT-ATP6","MT-CYB","MYH6","MYH7","MYL2","MYL4","MYOZ2","MYPN","NAA10","NDUFB11","NEXN","NKX2-5","NKX2-6","NODAL","NPPA","NUP155","PITX2","PKP2","PLN","POLG","POLG2","PRKAG2","PSEN2","RANGRF","RRM2B","RYR1","RYR2","SCN10A","SCN1B","SCN2B","SCN3B","SCN4B","SCN5A","SCNN1A","SEMA3A","SGO1","SLC19A2","SLC25A4","SLC4A3","SLMAP","SMAD3","SPRED1","SYNE1","SYNE2","TAB2","TBX20","TBX5","TLL1","TMEM43","TNNC1","TNNI3","TNNI3K","TNNT2","TPM1","TRDN","TRPM4","TTN","TTR","TWNK","XK"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CARDIAC_ATRIUM_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M36646","pmid":"","exactSource":"HP:0005120","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005120","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CARDIAC_ATRIUM_MORPHOLOGY","geneSymbols":["ABCC6","ABCD4","ABL1","ACADVL","ACTA2","ACTC1","ACVR2B","ADA2","ADAT3","ADK","ADNP","AFF4","AGGF1","AGO2","AGR2","AHI1","ALG12","ALG9","AMER1","AMMECR1","ANAPC7","ANK1","APC2","ARHGAP31","ARID1A","ARID1B","ARID2","ARSL","ARVCF","ASCC1","ASXL1","ASXL2","ATIC","ATN1","ATP2B1","ATP6V1A","ATP6V1E1","ATP9A","AUTS2","B3GALT6","B3GAT3","B3GLCT","BANF1","BAZ1B","BBS2","BCL7B","BCOR","BCR","BICRA","BMP2","BMPR1A","BRAF","BRCA1","BRCA2","BRD4","BRIP1","BUB1","BUB1B","BUB3","BUD23","C2CD3","CACNA1C","CACNA1D","CARS1","CCBE1","CCDC103","CCDC22","CCDC39","CCDC40","CCDC65","CCNO","CCNQ","CDC42BPB","CDC45","CDK10","CDK13","CDK8","CEP290","CEP57","CFAP221","CFAP298","CFAP300","CFAP45","CFAP53","CFAP74","CFC1","CHD3","CHD4","CHD7","CHMP1A","CHRM3","CHST14","CHST3","CIROP","CITED2","CLCN3","CLIP2","COG6","COG7","COL11A1","COL1A1","COL1A2","COMT","COX7B","CPE","CPLX1","CREBBP","CRKL","CSGALNACT1","CTBP1","CTCF","CTU2","CUL3","CUX1","DACT1","DCPS","DDX6","DEF6","DHCR7","DLK1","DNA2","DNAAF1","DNAAF11","DNAAF2","DNAAF3","DNAAF4","DNAAF5","DNAAF6","DNAH1","DNAH11","DNAH5","DNAH9","DNAI1","DNAI2","DNAJB13","DNAJC19","DNAJC30","DNAL1","DNMT3A","DOHH","DPF2","DPH1","DPH2","DPH5","DPYSL5","DRC1","DSE","DVL3","DYNC2LI1","ECE1","EFTUD2","EIF2AK3","EIF4H","ELN","EOGT","EP300","EPG5","EPHB4","ERCC4","ESCO2","EVC","EVC2","EXT2","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FBN2","FBXW11","FGF13","FGFR1","FGFR2","FGFR3","FGFRL1","FHL1","FHOD3","FIG4","FKBP6","FKTN","FLCN","FLNA","FLNB","FLNC","FOCAD","FOXC1","FOXF1","FOXJ1","FOXP2","FRA10AC1","FRMD5","FTCD","FUT8","G6PC3","GAS2L2","GAS8","GATA1","GATA4","GATA5","GATA6","GDF1","GET3","GJA1","GJA5","GJA8","GLI1","GLI3","GNB5","GNPTAB","GP1BB","GPC3","GPC4","GPC6","GPX4","GTF2I","GTF2IRD1","GTF2IRD2","GYS1","H3-3A","H3-3B","H4C3","H4C9","HAAO","HACD1","HCCS","HDAC8","HEATR3","HIRA","HNRNPH2","HNRNPK","HRAS","HSPA9","HYDIN","IDH1","IFT172","IFT27","IGF1R","INSR","IPO8","IRX5","JAG1","JMJD1C","KANSL1","KAT6A","KAT6B","KAT8","KATNB1","KCNH1","KDM1A","KDM5B","KDM6A","KIAA0586","KIF11","KIF15","KIF20A","KMT2A","KMT2D","KRAS","LAMA5","LARP7","LETM1","LIMK1","LMBRD1","LMNA","LMNB1","LMOD2","LONP1","LRRC56","LTBP4","LZTR1","MAD2L2","MAGEL2","MAP2K1","MAP2K2","MAP3K7","MAPK1","MAPKAPK5","MASP1","MBTPS2","MCIDAS","MCM10","MED11","MED12","MED13L","MED23","MED25","MEG3","MEGF8","MEIS2","METTL27","METTL5","MID1","MKKS","MLXIPL","MMP14","MMP2","MMP21","MOGS","MPDZ","MRAS","MRPL3","MTX2","MYBPC3","MYH6","MYH7","MYL2","MYL3","MYOCD","MYPN","MYRF","NAA10","NCAPG2","NCF1","NDE1","NDUFB11","NDUFB7","NEK1","NEK10","NEK9","NELFA","NF1","NFE2L2","NFIX","NIPA1","NIPA2","NIPBL","NKAP","NKX2-1","NKX2-5","NKX2-6","NME5","NME8","NODAL","NONO","NOTCH1","NOTCH2","NPHP3","NPPA","NR2F2","NSD1","NSD2","NUP155","NXN","OCLN","ODAD1","ODAD2","ODAD3","ODAD4","OFD1","OTUD6B","PACS1","PACS2","PALB2","PAX3","PCGF2","PCNT","PEX19","PEX2","PGAP1","PGAP2","PHGDH","PIEZO1","PIGA","PIGF","PIGG","PIGN","PIGO","PIGT","PIK3R2","PKD1L1","PKDCC","PLD1","PLXND1","POGZ","POLA1","POLR3A","POR","PPFIBP1","PPP1CB","PPP1R21","PPP2CA","PPP2R5D","PQBP1","PRDM13","PRIM1","PRKACA","PRKACB","PRR12","PRRX1","PTEN","PTF1A","PTPN11","RAB23","RAC1","RAD21","RAD51","RAD51C","RAF1","RAI1","RARB","RBM10","RBM8A","RELN","RERE","RFC2","RFWD3","RIPK4","RIT1","RNU4ATAC","ROBO1","ROBO4","ROR2","RPGR","RPL10","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL3L","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS7","RREB1","RSPH1","RSPH3","RSPH4A","RSPH9","RSPRY1","RTL1","SALL1","SALL4","SCN1B","SCN5A","SCUBE3","SDHD","SEC24C","SETBP1","SETD1A","SETD2","SGO1","SH2B1","SH3PXD2B","SHMT2","SHOC2","SIAH1","SIK3","SKIC2","SKIC3","SLC19A2","SLC25A24","SLC25A36","SLC29A3","SLC35A2","SLC38A3","SLF2","SLX4","SMAD2","SMAD3","SMAD4","SMAD6","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SMC1A","SMC3","SMG8","SMN1","SNRPB","SNRPN","SNX14","SON","SOS1","SOX11","SOX4","SPAG1","SPATA5","SPECC1L","SPEF2","SRCAP","STAG2","STAMBP","STAT1","STK36","STK4","STRA6","STRADA","STX1A","SUCLG1","SYT1","SZT2","TALDO1","TASP1","TBC1D24","TBL2","TBX1","TBX2","TBX20","TBX22","TBX4","TBX5","TGDS","TGFB3","TGFBR1","TGFBR2","THOC6","THSD1","TKT","TLL1","TMCO1","TMEM147","TMEM260","TMEM270","TMEM94","TNNI3","TNNT2","TOM1","TRAIP","TRIO","TRIP13","TRIP4","TRRAP","TSFM","TSR2","TTC12","TTC26","TUBG1","TWIST1","TXNL4A","UBE2A","UBE2T","UBE3B","UBR1","UBR7","UFC1","UFD1","UMPS","UPF3B","UQCRC2","USP18","USP9X","VAC14","VEZF1","VPS33A","VPS33B","VPS35L","VPS37D","WASHC5","WDR35","WDR37","WLS","WT1","XRCC2","XYLT2","YY1","ZBTB7A","ZDHHC9","ZEB2","ZIC3","ZMPSTE24","ZMYM2","ZMYND10","ZNF341","ZNF668","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RIGHT_VENTRICULAR_DILATATION":{"collection":"C5:HPO","systematicName":"M41307","pmid":"","exactSource":"HP:0005133","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005133","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RIGHT_VENTRICULAR_DILATATION","geneSymbols":["ACTC1","ALG9","CDH2","CITED2","CTNNA3","FNIP1","GATA4","GATA6","IPO8","MYH6","NKX2-5","SCN5A","SGCG","TBX20","TLL1","TRAPPC11"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_T_WAVE":{"collection":"C5:HPO","systematicName":"M36647","pmid":"","exactSource":"HP:0005135","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005135","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_T_WAVE","geneSymbols":["AKAP9","ALG10B","ANK2","ATP1A2","ATP1A3","BRF1","CACNA1A","CACNA1C","CALM1","CALM2","CALM3","CAV3","CLCNKB","CLN3","DCAF17","GYG1","JUP","KCNE1","KCNE2","KCNH2","KCNJ2","KCNJ5","KCNQ1","MECP2","MYL2","MYL3","NOS1AP","PRKAG2","RYR1","SCN10A","SCN4B","SCN5A","SLC12A3","SLC1A3","SNTA1","TBX5","TRDN"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_VENTRICULAR_SEPTAL_HYPERTROPHY":{"collection":"C5:HPO","systematicName":"M36648","pmid":"","exactSource":"HP:0005144","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005144","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VENTRICULAR_SEPTAL_HYPERTROPHY","geneSymbols":["ALPK3","BSCL2","CSRP3","GLA","GYG1","LEMD2","MAP2K2","MTFMT","MYBPC3","MYL2","MYPN","SYNE1","TNNT2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CORONARY_ARTERY_STENOSIS":{"collection":"C5:HPO","systematicName":"M36649","pmid":"","exactSource":"HP:0005145","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005145","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CORONARY_ARTERY_STENOSIS","geneSymbols":["ABCA1","DYRK1B","ELN","MLXIPL","PNPLA2","YY1AP1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CARDIAC_VALVE_CALCIFICATION":{"collection":"C5:HPO","systematicName":"M36650","pmid":"","exactSource":"HP:0005146","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005146","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CARDIAC_VALVE_CALCIFICATION","geneSymbols":["FBN1","GATA5","GBA1","HGD","IFIH1","LMNA","MTX2","NKX2-5","NOTCH1","RIGI","SLC34A2","SMAD6","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_ATRIOVENTRICULAR_CONDUCTION":{"collection":"C5:HPO","systematicName":"M36651","pmid":"","exactSource":"HP:0005150","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005150","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ATRIOVENTRICULAR_CONDUCTION","geneSymbols":["ABCC9","ACADVL","ACTC1","ACTN2","AGXT","AKAP9","BVES","CACNA1C","CACNA1D","CACNA1S","CACNA2D1","CACNB2","CALM1","CALM2","CALM3","CASQ2","CDC45","CITED2","CTNNA3","DEF6","DES","DMPK","DOHH","DTNA","EMD","FHL1","FLNC","GABRA3","GATA4","GATA6","GJA5","GLA","GNB2","GPD1L","GPX4","GRIN1","HCN4","KCND3","KCNE3","KCNE5","KCNH2","KCNJ18","KCNJ2","KCNJ5","KCNJ8","KCNK3","KCNQ1","LAMP2","LARS2","LMNA","MMP14","MMP2","MT-ATP8","MT-CYB","MT-TL1","MYBPC3","MYH6","MYL4","MYPN","NKX2-5","NPPA","PKP2","PRKAG2","PRKG2","PSEN1","PSEN2","PTPN11","RANGRF","RNASEH1","RRM2B","RYR2","SCN10A","SCN1B","SCN2B","SCN3B","SCN4B","SCN5A","SCNN1A","SDHA","SDHAF1","SDHB","SDHD","SEMA3A","SLC25A20","SLC4A3","SLMAP","SYNE1","SYNE2","TBX20","TBX5","TLL1","TMEM43","TRDN","TRPM4","TTN","TTR","VEZF1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_VENTRICULAR_ESCAPE_RHYTHM":{"collection":"C5:HPO","systematicName":"M36652","pmid":"","exactSource":"HP:0005155","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005155","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VENTRICULAR_ESCAPE_RHYTHM","geneSymbols":["EMD","FHL1","GJA5","GNB5","LMNA","NPPA","SCN5A","SGO1","SYNE1","SYNE2","TMEM43"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CONCENTRIC_HYPERTROPHIC_CARDIOMYOPATHY":{"collection":"C5:HPO","systematicName":"M36653","pmid":"","exactSource":"HP:0005157","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005157","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONCENTRIC_HYPERTROPHIC_CARDIOMYOPATHY","geneSymbols":["ALPK3","CLN3","DES","FHOD3","MT-CO1","MT-CO2","MT-CO3","MT-ND1","MT-ND4","MT-ND5","MT-ND6","MT-TF","MT-TH","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TW","NDUFS4","TNNC1","TSFM"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_TOTAL_ANOMALOUS_PULMONARY_VENOUS_RETURN":{"collection":"C5:HPO","systematicName":"M36654","pmid":"","exactSource":"HP:0005160","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005160","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TOTAL_ANOMALOUS_PULMONARY_VENOUS_RETURN","geneSymbols":["ACVR2B","CDC42","CFAP53","DHCR24","GDF1","GPC3","GPC4","MMP21","NIPA1","NIPA2","NODAL","RPS15A","TUBG1","WT1","ZIC3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SHORTENED_PR_INTERVAL":{"collection":"C5:HPO","systematicName":"M36656","pmid":"","exactSource":"HP:0005165","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005165","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORTENED_PR_INTERVAL","geneSymbols":["CACNA1S","DOHH","GAA","GABRA3","KCNJ18","MT-CYB","MTFMT","PRKAG2","TRPM4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PREMATURE_ARTERIOSCLEROSIS":{"collection":"C5:HPO","systematicName":"M36657","pmid":"","exactSource":"HP:0005177","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005177","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PREMATURE_ARTERIOSCLEROSIS","geneSymbols":["ABCG5","ABCG8","APOB","LDLR","LDLRAP1","LMNA","PCSK9","WRN"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PREMATURE_CORONARY_ARTERY_ATHEROSCLEROSIS":{"collection":"C5:HPO","systematicName":"M36658","pmid":"","exactSource":"HP:0005181","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005181","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PREMATURE_CORONARY_ARTERY_ATHEROSCLEROSIS","geneSymbols":["ABCA1","ABCG5","ABCG8","ACTA2","APOA1","APOB","APOE","CEP19","CYP27A1","ERCC6","ERCC8","GPIHBP1","LDLR","LDLRAP1","LIPC","LMNA","LRP6","MEF2A","PCSK9"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PROLONGED_QTC_INTERVAL":{"collection":"C5:HPO","systematicName":"M36659","pmid":"","exactSource":"HP:0005184","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005184","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROLONGED_QTC_INTERVAL","geneSymbols":["AKAP9","ALG10B","ANK2","CACNA1C","CALM1","CALM2","CALM3","CAV3","FLNC","HCN4","KCNA5","KCNE1","KCNE2","KCNH2","KCNJ2","KCNJ5","KCNQ1","MECP2","NOS1AP","SCN10A","SCN4B","SCN5A","SNTA1","SVIL","TANGO2","TBX5","TECRL","TNNI3K","TRDN"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SYNOVIAL_LINING_HYPERPLASIA":{"collection":"C5:HPO","systematicName":"M43304","pmid":"","exactSource":"HP:0005186","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005186","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SYNOVIAL_LINING_HYPERPLASIA","geneSymbols":["ANKRD55","CD247","IL2RA","IL2RB","PRG4","PTPN2","PTPN22","STAT4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_POLYARTICULAR_ARTHROPATHY":{"collection":"C5:HPO","systematicName":"M36660","pmid":"","exactSource":"HP:0005195","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005195","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POLYARTICULAR_ARTHROPATHY","geneSymbols":["CCN6","CD244","CIITA","DMP1","ENPP1","IL10","IL36RN","MEFV","NFKBIL1","NLRP1","NLRP3","NOD2","PIK3CD","PRG4","PTPN22","SLC22A4","STAT3","TNFAIP3","TNFRSF1A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HELICOBACTER_PYLORI_INFECTION":{"collection":"C5:HPO","systematicName":"M41308","pmid":"","exactSource":"HP:0005202","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005202","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HELICOBACTER_PYLORI_INFECTION","geneSymbols":["CARMIL2","CORIN","FLT1","IFNGR1","STOX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PANCREATIC_PSEUDOCYST":{"collection":"C5:HPO","systematicName":"M36661","pmid":"","exactSource":"HP:0005206","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005206","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PANCREATIC_PSEUDOCYST","geneSymbols":["CFTR","CTRC","PRSS1","PRSS2","SPINK1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SECRETORY_DIARRHEA":{"collection":"C5:HPO","systematicName":"M36662","pmid":"","exactSource":"HP:0005208","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005208","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SECRETORY_DIARRHEA","geneSymbols":["ACSL5","DEF6","EGFR","EPCAM","FOXP3","NLRC4","PERCC1","PLVAP","SLC26A3","SLC9A3","SLCO2A1","SPINT2","STX3","UNC45A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PANCREATIC_CALCIFICATION":{"collection":"C5:HPO","systematicName":"M36663","pmid":"","exactSource":"HP:0005213","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005213","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PANCREATIC_CALCIFICATION","geneSymbols":["ABCC6","CASR","CFTR","CPA1","CTRC","ENPP1","PRSS1","PRSS2","SPINK1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_IMPAIRED_MASTICATION":{"collection":"C5:HPO","systematicName":"M36664","pmid":"","exactSource":"HP:0005216","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005216","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRED_MASTICATION","geneSymbols":["ACTA1","ADNP","ADSS1","ALS2","AXIN2","CHRNA1","COLQ","EDA","EDARADD","FARS2","FGFR1","GNAI3","GRIN1","H4C5","HACD1","HLA-B","HLA-DRB1","HOXB1","IDS","IRF6","ITGA7","KANSL1","LAMA2","LAMB2","LPIN1","LRP6","MAP3K20","MSX1","MT-CO1","MT-CO3","MTRFR","MYL2","NAA20","NECTIN1","OBSCN","P4HA2","PAX9","PPP2R5D","PTPN22","PYGM","PYROXD1","SELENON","SLC39A14","SUMO1","TGFA","TP63","TPM2","TPM3","TUBB3","WNT10A","WNT10B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BOWEL_DIVERTICULOSIS":{"collection":"C5:HPO","systematicName":"M36665","pmid":"","exactSource":"HP:0005222","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005222","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BOWEL_DIVERTICULOSIS","geneSymbols":["AKT1","ALDH18A1","BAZ1B","BCL7B","BUD23","CLIP2","COL5A1","DNAJC30","EFEMP2","EIF4H","ELN","ERBB3","FBLN5","FKBP6","GTF2I","GTF2IRD1","GTF2IRD2","LIMK1","LTBP1","METTL27","MLH1","MLXIPL","MSH2","NCF1","PIK3CA","PKD1","POLG","PTEN","RET","RFC2","STX1A","TBL2","TMEM270","TYMP","UBR1","VPS37D"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RECTAL_ABSCESS":{"collection":"C5:HPO","systematicName":"M36666","pmid":"","exactSource":"HP:0005224","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005224","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECTAL_ABSCESS","geneSymbols":["CYBA","CYBB","IGHM","ITGB2","NCF1","NCF2","PI4KA","RAC2","TTC7A","VANGL1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ADENOMATOUS_COLONIC_POLYPOSIS":{"collection":"C5:HPO","systematicName":"M36667","pmid":"","exactSource":"HP:0005227","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005227","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ADENOMATOUS_COLONIC_POLYPOSIS","geneSymbols":["APC","AXIN2","BMPR1A","ENG","EPCAM","GREM1","MBD4","MLH1","MSH3","MUTYH","NTHL1","PMS2","POLD1","POLE","PTEN","RNF43","SMAD4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CHRONIC_GASTRITIS":{"collection":"C5:HPO","systematicName":"M46108","pmid":"","exactSource":"HP:0005231","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005231","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHRONIC_GASTRITIS","geneSymbols":["ELF4","FOCAD","IGHG2","IGKC","IPO8"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_GASTROINTESTINAL_INFARCTIONS":{"collection":"C5:HPO","systematicName":"M36668","pmid":"","exactSource":"HP:0005244","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005244","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GASTROINTESTINAL_INFARCTIONS","geneSymbols":["B2M","CALR","COL3A1","F5","HLA-B","HLA-DRB1","IL12B","JAK2","MEFV","MLX","P4HA2","PTPN22","STK11","TEK"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INTESTINAL_HYPOPLASIA":{"collection":"C5:HPO","systematicName":"M36669","pmid":"","exactSource":"HP:0005245","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005245","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTESTINAL_HYPOPLASIA","geneSymbols":["ACTG2","AP1S1","CLMP","DOK7","FLNA","GATA6","GUCY2C","KIF21A","LMNA","LMOD1","MUSK","MYH11","MYLK","MYOD1","NUP88","RAPSN","SLC18A3","SOX10","TUBA1A","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INTRAHEPATIC_BILIARY_ATRESIA":{"collection":"C5:HPO","systematicName":"M46109","pmid":"","exactSource":"HP:0005248","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005248","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTRAHEPATIC_BILIARY_ATRESIA","geneSymbols":["CC2D2A","CLDN1","INPP5E","RPGRIP1L","TCTN3","TMEM67","VPS33B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FUNCTIONAL_INTESTINAL_OBSTRUCTION":{"collection":"C5:HPO","systematicName":"M43306","pmid":"","exactSource":"HP:0005249","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005249","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FUNCTIONAL_INTESTINAL_OBSTRUCTION","geneSymbols":["BRCA1","BRCA2","CDKN2A","ERBB3","KRAS","PALB2","PALLD","RABL3","SMAD4","TP53"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_THORACIC_HYPOPLASIA":{"collection":"C5:HPO","systematicName":"M36670","pmid":"","exactSource":"HP:0005257","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005257","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THORACIC_HYPOPLASIA","geneSymbols":["ABCC9","ACTA1","ACTG2","ADAMTS3","AGRN","ATP7A","B3GAT3","B4GALT7","BCOR","BMPER","CANT1","CASR","CCBE1","CCDC47","CEP120","CFAP410","CFL2","CHST3","CILK1","CLCN7","COL11A1","COL11A2","COL1A1","COL1A2","COL2A1","CREB3L1","CRTAP","CSPP1","CTSK","DCHS1","DDR2","DDRGK1","DDX3X","DLG3","DLK1","DNAJC21","DONSON","DYNC2H1","DYNC2I1","DYNC2I2","DYNC2LI1","DYNLT2B","EVC","EVC2","FAM20C","FAT4","FBN1","FGFR2","FGFR3","FLNA","FLNB","GAD1","GBA1","GLI1","GNE","GNPTAB","GPX4","HHAT","HSD17B4","HSPG2","IFT122","IFT140","IFT172","IFT43","IFT52","IFT80","IFT81","IHH","IL6ST","INPPL1","INTU","ITGA3","KAT6A","KBTBD13","KCNJ8","KIAA0586","KIAA0753","KLHL41","KYNU","LBR","LMNA","LMOD3","MATN3","MBTPS2","MED12","MEG3","MESD","MTOR","MUSK","MYOD1","MYPN","NAA10","NEB","NEK1","NEK9","NEPRO","ORC6","PAM16","PCGF2","PCNT","PIGA","PIGN","PIK3C2A","PLCB3","POLR3A","POR","PRKACA","PRKACB","PTH1R","PUF60","RMRP","RPS19","RTL1","RUNX2","SBDS","SCN4A","SEC23A","SERPINH1","SKI","SLC10A7","SLC26A2","SLC35D1","SLC37A4","SLC9A6","SNRPB","SNX10","SOX9","SRP54","TAPT1","TCIRG1","TCTN2","TMCO1","TNFSF11","TPM2","TPM3","TRIP11","TRPV4","TRPV6","TTC21B","TWIST1","UPF3B","WDR11","WDR19","WDR35","XYLT1","ZBTB20","ZC4H2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PECTORAL_MUSCLE_HYPOPLASIA_APLASIA":{"collection":"C5:HPO","systematicName":"M36671","pmid":"","exactSource":"HP:0005258","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005258","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PECTORAL_MUSCLE_HYPOPLASIA_APLASIA","geneSymbols":["ALX1","ALX3","MYMK","MYMX","PLXND1","REV3L","SALL4","TBX3","TBX5"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_JOINT_HEMORRHAGE":{"collection":"C5:HPO","systematicName":"M36672","pmid":"","exactSource":"HP:0005261","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005261","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_JOINT_HEMORRHAGE","geneSymbols":["F10","F11","F13A1","F13B","F2","F5","F7","F8","F9","GGCX","LMAN1","MCFD2","PLAU","SERPINE1","SERPINF2","VWF","WAS"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_SYNOVIAL_MEMBRANE_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M36673","pmid":"","exactSource":"HP:0005262","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005262","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SYNOVIAL_MEMBRANE_MORPHOLOGY","geneSymbols":["ANKRD55","BRAF","CD247","F8","HYAL1","IL2RA","IL2RB","LPIN2","MAP2K1","NOD2","POLR3A","PRG4","PTPN11","PTPN2","PTPN22","STAT4","TRAPPC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_GASTRITIS":{"collection":"C5:HPO","systematicName":"M36674","pmid":"","exactSource":"HP:0005263","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005263","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GASTRITIS","geneSymbols":["AIRE","CARD8","CASP10","CDH1","CTLA4","DEF6","ELF4","FAS","FASLG","FOCAD","FOXP3","IFIH1","IGHG2","IGKC","IPO8","LRBA","NFKB1","PRKCD","RASGRP1","RIPK1","SKIC2","SKIC3","SYK"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_GALLBLADDER":{"collection":"C5:HPO","systematicName":"M36675","pmid":"","exactSource":"HP:0005264","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005264","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_GALLBLADDER","geneSymbols":["ABCB11","ABCB4","ABCG8","ACVRL1","AIRE","ALAS2","ALDOA","AMACR","ANK1","ARSA","ARVCF","ASXL1","ATP8B1","B3GLCT","BAZ1B","BCL7B","BLVRA","BUD23","CALR","CC2D2A","CCDC47","CLIP2","CNOT1","COMT","CPLX1","CTBP1","CYP27A1","CYP7A1","DHCR7","DMPK","DNAJC30","EIF4H","ELN","ENG","EPB41","EPB42","F5","FECH","FKBP6","FOXF1","FUCA1","GATA6","GBA1","GCGR","GDF2","GNE","GP1BB","GPI","GPR35","GTF2I","GTF2IRD1","GTF2IRD2","GYPC","HBB","HIRA","HK1","HOXD13","IGHG2","IGKC","INTU","JAK2","JMJD1C","KCNN4","KDM5C","LETM1","LIMK1","MECP2","MED25","METTL27","MLXIPL","MST1","NCF1","NELFA","NR1H4","NSD2","PEX19","PFKM","PIEZO1","PIGG","PKHD1","PKLR","PNPLA2","PSAP","RFC2","RFX6","RREB1","SC5D","SCNN1A","SCNN1B","SCNN1G","SEC23B","SEC24C","SEMA4D","SLC4A1","SMAD4","SMPD1","SON","SPTA1","SPTB","STK11","STX1A","TBL2","TBX1","TCF4","TFE3","TMEM270","TPI1","UFD1","UQCRFS1","UROS","VPS37D","VPS4A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_JEJUNUM_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M41310","pmid":"","exactSource":"HP:0005265","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005265","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_JEJUNUM_MORPHOLOGY","geneSymbols":["AP1S1","CENPF","MIR17HG","MYCN","PI4KA","PPP1R12A","RFX6","SLC25A12","TTC7A","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INTESTINAL_POLYP":{"collection":"C5:HPO","systematicName":"M36676","pmid":"","exactSource":"HP:0005266","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005266","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTESTINAL_POLYP","geneSymbols":["ABCD1","ACVRL1","AKT1","APC","ATP7A","AXIN2","BMPR1A","BUB1","BUB1B","BUB3","CDKN2A","CEP57","CHEK2","CTNNB1","DICER1","ECE1","EDN3","EDNRB","ENG","EPCAM","ERBB2","ERBB3","FAN1","FLCN","GDF2","GDNF","GNAS","GREM1","HEPACAM","KEAP1","KLLN","KRAS","MBD4","MDM2","MLH1","MLH3","MSH2","MSH3","MSH6","MTOR","MUTYH","NRTN","NTHL1","PDGFRA","PIK3CA","PMS1","PMS2","POLD1","POLE","PTCH1","PTEN","RET","RNF43","SDHB","SDHC","SDHD","SEC23B","SEMA3C","SEMA3D","SMAD4","SMO","SREBF1","STK11","TGFBR2","TP53","TRIP13","USF3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MISCARRIAGE":{"collection":"C5:HPO","systematicName":"M36677","pmid":"","exactSource":"HP:0005268","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005268","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MISCARRIAGE","geneSymbols":["ALB","BIN1","CLN8","DLK1","DNM2","ENG","FCGR3B","FGA","FGB","FGG","HBB","HOXA13","HSPG2","JAK2","MEG3","MGP","MPL","MTMR14","MYF6","NLRP7","NSD2","PLIN1","PLXND1","RAD51C","REC114","RHAG","RHCE","RHD","RTL1","RYR1","SERPINC1","SERPINE1","THPO","WRN"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PROMINENT_NASOLABIAL_FOLD":{"collection":"C5:HPO","systematicName":"M47102","pmid":"","exactSource":"HP:0005272","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005272","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROMINENT_NASOLABIAL_FOLD","geneSymbols":["ATP6V0A2","ATP6V1A","ATP6V1E1","CHST14","DSE","FOXP1","GNB2","LTBP1","MYBPC1","NAA10","NALCN","NF1","SPRED2","TNNI2","TOR1A","USP9X"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PROMINENT_NASAL_TIP":{"collection":"C5:HPO","systematicName":"M36678","pmid":"","exactSource":"HP:0005274","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005274","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROMINENT_NASAL_TIP","geneSymbols":["ASNS","AUTS2","BCL11A","BICRA","CCDC8","CHD5","CHRNA7","CSGALNACT1","DPYD","FLCN","KCNJ6","MADD","MED25","OBSL1","PCGF2","PDE4D","PGM2L1","PPP3CA","PRKACB","RFX7","SPEN","SYT1","WDR26","ZEB2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DEPRESSED_NASAL_BRIDGE":{"collection":"C5:HPO","systematicName":"M36679","pmid":"","exactSource":"HP:0005280","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005280","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEPRESSED_NASAL_BRIDGE","geneSymbols":["ABCC9","ACAN","ACOX1","ACSL4","ADA2","ADAMTS10","ADAMTS2","ADAMTS3","ADAMTSL2","ADAT3","ADGRG6","ADNP","AGA","AGL","AHDC1","AIFM1","AKT1","AKT3","ALDH6A1","ALG3","ALG9","ALX4","AMMECR1","ANK1","ANKH","ANTXR1","ARID1A","ARID1B","ARID2","ARL3","ARSB","ARSL","ARX","ASH1L","ASXL1","ASXL3","ATRX","AUTS2","B3GALT6","B3GAT3","B3GLCT","BBS7","BICRA","BLTP1","BMP2","BMPER","BMPR1A","BRAF","BRD4","BUB1B","CACNA1C","CAMKMT","CANT1","CASK","CASZ1","CBL","CCBE1","CCDC22","CCND2","CCNQ","CD96","CDC42BPB","CDCA7","CDH11","CDH2","CDK10","CDKL5","CDKN1C","CEP57","CHD7","CHD8","CHST3","CLIC2","CNOT1","COG8","COL11A1","COL11A2","COL18A1","COL1A1","COL1A2","COL2A1","COL9A3","CREBBP","CRIPT","CRLF1","CSGALNACT1","CSPP1","CTU2","CUL4B","CUL7","DDB1","DDR2","DEAF1","DHCR24","DHCR7","DHX30","DICER1","DIS3L2","DLK1","DLL3","DMXL2","DNMT3B","DOCK6","DOK7","DPF2","DPH1","DPH2","DPM1","DPYD","DPYSL5","DUOX2","DUOXA2","DUSP6","DVL1","DVL3","DYNC2H1","DYNC2I1","DYNC2I2","DYNC2LI1","EBP","EDA","EDAR","EDARADD","EED","EEF1A2","EFEMP2","EIF2AK3","ELN","EP300","EPG5","ERF","ETFA","ETFB","ETFDH","EXOSC1","EXTL3","EYA1","EZH2","FAM20C","FAR1","FAT4","FBN1","FBXO28","FDFT1","FGF17","FGF8","FGFR1","FGFR2","FGFR3","FH","FLII","FLNA","FLNB","FOCAD","FOXC1","FOXG1","FOXL2","FRAS1","FREM1","FREM2","FTSJ1","FUCA1","FZD2","GABRD","GAD1","GATA1","GATAD2B","GBA1","GJA1","GJA5","GJA8","GLB1","GLI2","GLI3","GLIS3","GLUL","GMNN","GNAO1","GNAS","GNB2","GNPAT","GNPTAB","GNRH1","GNRHR","GNS","GOLGA2","GPC3","GPC4","GPC6","GPX4","GRIN1","GRIP1","GRM7","GTPBP2","H3-3A","H4C11","H4C9","HBB","HDAC4","HDAC8","HEATR3","HECW2","HELLS","HEPACAM","HES7","HESX1","HNRNPR","HOXB1","HRAS","HS6ST1","HSD17B4","HSPG2","HUWE1","HYAL1","IARS2","IDUA","IFT140","IFT52","IFT74","IFT80","IFT81","IL11RA","IL6ST","INPPL1","INTU","IPO8","IQSEC2","IYD","JAG1","JARID2","KAT5","KAT6B","KAT8","KCNA1","KCNAB2","KCNE5","KCNH1","KCTD1","KDM6B","KIAA0586","KIAA0753","KIF11","KIF21A","KIF7","KISS1","KISS1R","KLHL7","KMT2D","KNSTRN","KRAS","KREMEN1","KYNU","LAMA5","LARP7","LBR","LFNG","LHX3","LHX4","LIG4","LINS1","LONP1","LRP2","LTBP3","LUZP1","MACF1","MADD","MAF","MAN2B1","MAP2K1","MAP2K2","MAP3K7","MAPRE2","MARS2","MDH1","MECP2","MED12","MED12L","MED13L","MED27","MEF2C","MEG3","MEGF8","MESP2","METTL23","MGP","MINPP1","MIPEP","MLXIPL","MMP23B","MN1","MRAS","MRPS14","MTHFR","MTOR","MTX2","MUSK","MYMK","MYOD1","NAA10","NAGA","NANS","NBN","NEPRO","NEUROD2","NEXMIF","NF1","NFIX","NHLH2","NIPBL","NMNAT1","NPR2","NRAS","NRCAM","NSD1","NSD2","NSDHL","NSMCE3","NSMF","NSRP1","NSUN2","NUP88","NXN","OBSL1","P4HTM","PAICS","PAK2","PAM16","PAX1","PAX3","PCLO","PDE4D","PDGFRB","PDPN","PEPD","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PEX7","PGAP1","PGM2L1","PIGA","PIGG","PIGL","PIGN","PIGP","PIGQ","PIGT","PIGU","PIGY","PIK3C2A","PIK3CA","PIK3CD","PIK3R2","PITX1","PITX2","PLCB3","PLOD1","PLXNA1","PMM2","PNKP","POGZ","POLA1","POLE","POLG2","POLR3A","POLRMT","POR","POU1F1","PPM1B","PRDM16","PREPL","PRIM1","PRKAR1A","PRKAR1B","PRKCZ","PRKD1","PRMT7","PROK2","PROKR2","PROP1","PRPS1","PSAT1","PTEN","PTH1R","PURA","QARS1","RAB23","RAB3GAP1","RAB3GAP2","RAD21","RAF1","RAI1","RALGAPA1","RAPSN","RECQL4","RERE","RHOBTB2","RIPK4","RIPPLY2","RMRP","RNF2","ROR2","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS23","RPS24","RPS26","RPS27","RPS28","RPS29","RPS6KA3","RPS7","RSPRY1","RTL1","RUNX2","RYR3","SCARF2","SCN1B","SCN2A","SCO2","SCYL2","SEMA3E","SEPTIN9","SETBP1","SETD5","SH3PXD2B","SHH","SHOX","SHROOM4","SIK1","SIM1","SIN3A","SIX2","SKI","SKIC2","SLC18A3","SLC1A4","SLC25A22","SLC25A24","SLC26A2","SLC32A1","SLC35C1","SLC39A13","SLC3A1","SLC45A1","SLC5A5","SLC6A9","SMARCA4","SMARCAL1","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SMC1A","SMC3","SMG9","SMO","SMOC1","SMPD4","SNAP29","SNX14","SON","SOS1","SOST","SOX11","SOX4","SOX5","SOX9","SP7","SPATA5","SPATA5L1","SPECC1L","SPEN","SPOP","SPRY4","SRD5A3","STAG2","STX16","SUFU","SUMF1","SUPT16H","SYNE1","TAC3","TACR3","TAF1","TALDO1","TAOK1","TBCE","TBX2","TBX4","TCF20","TCF3","TFAP2A","TFAP2B","TFE3","TG","TGIF1","THSD1","TMEM107","TMEM147","TMEM216","TMEM94","TOE1","TONSL","TP63","TPO","TRIM37","TRIM8","TRIO","TRIP11","TRIP12","TRPM3","TRPV4","TRPV6","TRRAP","TSHB","TSR2","TTC26","TUBA1A","TUBB","TWIST1","TWIST2","UBE2A","UBE3B","UBE4B","UGP2","UQCC2","USB1","USP9X","VANGL2","VARS1","VPS35L","WAC","WASHC5","WDR11","WDR26","WDR35","WDR4","WNT5A","XYLT1","YARS1","ZBTB18","ZBTB20","ZBTB24","ZIC2","ZMPSTE24","ZNF292","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_NASOLABIAL_REGION":{"collection":"C5:HPO","systematicName":"M36680","pmid":"","exactSource":"HP:0005289","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005289","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_NASOLABIAL_REGION","geneSymbols":["ATP6V0A2","ATP6V1A","ATP6V1E1","CHST14","DSE","FOXP1","GNB2","LTBP1","MAN1B1","MYBPC1","NAA10","NALCN","NF1","PGM2L1","SNRPN","SPRED2","TNNI2","TOR1A","USP9X"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_VENOUS_INSUFFICIENCY":{"collection":"C5:HPO","systematicName":"M36681","pmid":"","exactSource":"HP:0005293","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005293","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VENOUS_INSUFFICIENCY","geneSymbols":["AEBP1","AGGF1","ANGPT2","ARVCF","ATP7A","CLCNKB","COL3A1","COMT","ENG","EPHB4","FIBP","FLT4","FOXC2","G6PC3","GBA1","GJC2","GNAQ","GP1BB","HIRA","JMJD1C","KIF5A","NDP","NOTCH3","PIEZO1","PIK3CA","PROC","PROS1","PTEN","RASA1","RREB1","SEC24C","SLC12A3","SLC29A3","SMAD2","SMAD3","SMOC1","TBX1","UFD1","VHL"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ARTERIAL_DISSECTION":{"collection":"C5:HPO","systematicName":"M36682","pmid":"","exactSource":"HP:0005294","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005294","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ARTERIAL_DISSECTION","geneSymbols":["COL1A1","COL3A1","COL5A1","COL5A2","IPO8","PLOD1","SMAD3","TGFBR1","TGFBR2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CEREBRAL_VENOUS_THROMBOSIS":{"collection":"C5:HPO","systematicName":"M36684","pmid":"","exactSource":"HP:0005305","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005305","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CEREBRAL_VENOUS_THROMBOSIS","geneSymbols":["F13A1","F2","HABP2","MTHFR","PGM1","PROC","PROS1","SERPINC1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CAPILLARY_HEMANGIOMA":{"collection":"C5:HPO","systematicName":"M36685","pmid":"","exactSource":"HP:0005306","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005306","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CAPILLARY_HEMANGIOMA","geneSymbols":["AKT1","ANTXR1","ARL6IP6","ATP6V1B2","CCND1","CD96","CREBBP","DHCR7","DIS3L2","DVL1","DVL3","EIF2AK4","EP300","EPHB4","ESCO2","EXTL3","FGFR1","FLT4","FZD2","GLI3","GNA11","GNAQ","HS2ST1","KDR","KRAS","MGAT2","POR","PTEN","PUF60","RASA1","RBM8A","RECQL4","SEC23A","TBC1D24","TRPM3","VHL","WNT5A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INCREASED_PULMONARY_VASCULAR_RESISTANCE":{"collection":"C5:HPO","systematicName":"M41312","pmid":"","exactSource":"HP:0005317","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005317","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_PULMONARY_VASCULAR_RESISTANCE","geneSymbols":["ACTC1","BMPR2","CAV1","CITED2","GATA4","GATA6","KCNK3","MYH6","NKX2-5","SLC34A2","SMAD9","TBX20","TLL1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DISTURBANCE_OF_FACIAL_EXPRESSION":{"collection":"C5:HPO","systematicName":"M36686","pmid":"","exactSource":"HP:0005324","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005324","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DISTURBANCE_OF_FACIAL_EXPRESSION","geneSymbols":["ALDH7A1","ATP1A2","ATXN8OS","CACNA1A","CP","CREBBP","DNM2","EP300","GABRA1","GABRG2","GATAD2B","GLI3","IRF6","KCNQ2","KCNQ3","LRIG2","MECP2","MSX1","MTMR14","NECTIN1","PANK2","PCDH19","PDE2A","PLA2G6","PLPBP","PMP22","PNKD","PNPT1","PRRT2","SCN1A","SCN1B","SCN2A","SCN9A","TP63","TTR"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PROGEROID_FACIAL_APPEARANCE":{"collection":"C5:HPO","systematicName":"M36687","pmid":"","exactSource":"HP:0005328","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005328","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROGEROID_FACIAL_APPEARANCE","geneSymbols":["ATP6V0A2","B4GALT7","BANF1","CAV1","COG4","ELN","ERCC1","ERCC3","ERCC4","ERCC6","ERCC8","EXOSC2","FBN1","GJB2","GJB6","GORAB","KCNJ6","LMNA","LMNB2","LTBP4","MTX2","PCNA","POLR3A","PSMB8","RECQL","RNF113A","SLC2A10","STUB1","WRN","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SPARSE_LATERAL_EYEBROW":{"collection":"C5:HPO","systematicName":"M36688","pmid":"","exactSource":"HP:0005338","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005338","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPARSE_LATERAL_EYEBROW","geneSymbols":["ATR","CDC42BPB","COG6","EDARADD","H4C5","HEPHL1","HNRNPK","IRX5","KAT5","KDF1","KDM6A","KMT2D","KMT5B","KRT25","KRT71","KRT74","LIG4","LIPH","LMBRD2","LPAR6","MAN1B1","MESD","NECTIN1","NSUN2","PIGK","PIGL","PLXNA1","PPP1CB","PQBP1","PURA","TBX3","TRPS1","TWIST2","USB1","WDR26","WLS"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_COMPLEMENT_SYSTEM":{"collection":"C5:HPO","systematicName":"M36689","pmid":"","exactSource":"HP:0005339","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005339","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_COMPLEMENT_SYSTEM","geneSymbols":["BANK1","BLK","C1QA","C1QB","C1QC","C1S","C3","C4A","C4B","C5","C6","C7","C8A","C8B","C9","CD46","CFB","CFD","CFH","CFHR1","CFHR3","CFI","CFP","CR2","CTLA4","DNASE1","DNASE1L3","ETS1","FCGR2B","FCGR3B","GALK1","HLA-DRB1","IGHG1","IL10","IRAK1","IRF5","ITGAM","JAZF1","KIAA0319L","LMNA","LMNB2","MASP2","MECP2","PACS1","PDCD1","PRKCD","PTPN22","PXK","SAT1","SERPING1","SLC7A7","SPP1","STAT4","THBD","TLR7","TNFAIP3","TNFSF4","TNIP1","TREX1","UBE2L3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SPASTIC_HYPERACTIVE_BLADDER":{"collection":"C5:HPO","systematicName":"M36690","pmid":"","exactSource":"HP:0005340","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005340","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPASTIC_HYPERACTIVE_BLADDER","geneSymbols":["DARS2","DNAJC13","EIF4G1","GBA1","GIGYF2","KIF5A","LRIG2","LRRK2","PLP1","SNCA","VPS35"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPOPLASIA_OF_THE_BLADDER":{"collection":"C5:HPO","systematicName":"M43307","pmid":"","exactSource":"HP:0005343","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005343","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASIA_OF_THE_BLADDER","geneSymbols":["ALG9","CCNQ","GRIP1","MBTPS2","MED12","MKS1","ROBO1","WNT4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CAROTID_ARTERY_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M36691","pmid":"","exactSource":"HP:0005344","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005344","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CAROTID_ARTERY_MORPHOLOGY","geneSymbols":["ABCA1","ABCG5","ABCG8","ACTA2","AEBP1","APOB","ATP7A","BAZ1B","BCL7B","BRCA1","BRCA2","BRIP1","BUD23","CLIP2","COL3A1","COL5A1","DCDC2","DNAJC30","EIF4H","ELN","ERCC4","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FBN1","FKBP6","FOXE3","GTF2I","GTF2IRD1","GTF2IRD2","HEY2","HOXA1","HTRA1","IPO8","LDLR","LDLRAP1","LIMK1","LMNA","LMX1B","LOX","MAD2L2","MAT2A","METTL27","MFAP5","MLXIPL","MYH11","MYLK","NCF1","NDE1","NF1","NKX2-6","PALB2","PCGF2","PCSK9","PLXND1","PRKG1","RAD51","RAD51C","RFC2","RFWD3","SDHD","SLC2A10","SLX4","SMAD2","SMAD3","SMAD4","SON","STAT1","STX1A","TBL2","TGFB2","TGFB3","TGFBR1","TGFBR2","THSD1","THSD4","TMEM270","TMEM67","TOM1","UBE2T","VPS37D","XRCC2","YY1AP1","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_VENA_CAVA_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M36692","pmid":"","exactSource":"HP:0005345","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005345","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_VENA_CAVA_MORPHOLOGY","geneSymbols":["ACVR2B","ADH5","ATN1","BAP1","CCDC103","CCDC39","CCDC40","CCDC65","CCNO","CFAP221","CFAP298","CFAP300","CFAP74","CFC1","CIROP","CREBBP","CWC27","DNAAF1","DNAAF11","DNAAF2","DNAAF3","DNAAF4","DNAAF5","DNAAF6","DNAH1","DNAH11","DNAH5","DNAH9","DNAI1","DNAI2","DNAJB13","DNAL1","DRC1","EP300","ERCC8","FADD","FANCB","FOXF1","FOXJ1","GAS2L2","GAS8","GNB2","HYDIN","KDM3B","LRPPRC","LRRC56","MCIDAS","MED25","MID1","MMP21","NCAPG2","NEK10","NKX2-6","NME5","NME8","ODAD1","ODAD2","ODAD3","ODAD4","OFD1","PLXND1","PRKACB","PRKCD","RAI1","RBM10","RPGR","RSPH1","RSPH3","RSPH4A","RSPH9","SLC29A3","SMAD2","SMG8","SMOC1","SPAG1","SPEF2","SRCAP","STK36","TMEM260","TTC12","UBE2A","UQCRFS1","WT1","ZIC3","ZMYND10","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_FACIAL_EXPRESSION":{"collection":"C5:HPO","systematicName":"M36693","pmid":"","exactSource":"HP:0005346","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005346","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FACIAL_EXPRESSION","geneSymbols":["ACTA1","ADH1C","ALDH7A1","ASXL3","ATP13A2","ATP1A2","ATP1A3","ATP6AP2","ATP6V1A","ATP7A","ATXN2","ATXN8OS","BCL11B","CACNA1A","CC2D1A","CCDC174","CERT1","CLTC","CNTNAP1","COL25A1","CP","CREBBP","DCTN1","DDHD2","DLK1","DMXL2","DNA2","DNAJC13","DNAJC6","DNM2","DNMT3B","DPM2","DUX4","DUX4L1","EBF3","EIF2AK2","EIF4G1","EP300","ERGIC1","FA2H","FBXO7","FKRP","FKTN","FMR1","FRG1","FTL","GABRA1","GABRG2","GATAD2B","GBA1","GFM2","GIGYF2","GIPC1","GLE1","GLI3","GLUD2","GMPPB","GOSR2","HACD1","HLA-DQB1","HOXB1","HPSE2","HSPG2","IRF6","ITGA7","ITPR1","JAM2","KCNH1","KCNJ6","KCNK9","KCNQ2","KCNQ3","KDM6A","KLHL41","KMT2D","KNSTRN","LAMA2","LARGE1","LRIG2","LRP12","LRRK2","MAP3K20","MAPT","MECP2","MEG3","MRE11","MSTO1","MSX1","MT-TT","MTMR14","MYH2","MYH3","MYH7","MYL1","MYL2","MYMX","NEB","NECTIN1","NOTCH2NLC","NR4A2","OGDHL","PABPN1","PANK2","PAX6","PCDH19","PDE2A","PDGFB","PDGFRB","PIEZO2","PIK3CD","PLA2G6","PLAA","PLPBP","PLXND1","PMP22","PNKD","PNPT1","PODXL","POLG","POLG2","POMT1","POMT2","PRDX3","PRNP","PRRT2","PTRH2","PURA","PYROXD1","REV3L","RILPL1","RIPK4","RRM2B","RTL1","RYR1","SCN1A","SCN1B","SCN2A","SCN9A","SCYL2","SELENON","SGCB","SLC16A2","SLC18A2","SLC20A2","SLC25A4","SLC30A10","SLC39A14","SLC52A3","SLC6A3","SLC6A8","SLC6A9","SLC9A7","SMCHD1","SNCA","SNCAIP","SPR","SPTBN4","STAC3","SYNJ1","TAFAZZIN","TANGO2","TBP","TECPR2","TH","TK2","TNNT1","TNPO2","TP63","TPM2","TPM3","TRIM32","TTR","TWNK","TXNL4A","UBA1","UBA5","UBE3A","UFC1","VAMP1","VPS35","VPS41"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INSPIRATORY_STRIDOR":{"collection":"C5:HPO","systematicName":"M36694","pmid":"","exactSource":"HP:0005348","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005348","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INSPIRATORY_STRIDOR","geneSymbols":["AGTPBP1","D2HGDH","EXOSC3","EXOSC8","EXOSC9","IGHMBP2","KIF22","MIR140","NFASC","PLP1","SCN4A","SCO2","SERPING1","SLC25A46","SLC52A3","VRK1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPOPLASIA_OF_THE_EPIGLOTTIS":{"collection":"C5:HPO","systematicName":"M36695","pmid":"","exactSource":"HP:0005349","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005349","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASIA_OF_THE_EPIGLOTTIS","geneSymbols":["CILK1","FGF10","FGFR2","FGFR3","FREM2","GLI3","NEK1","PRRX1","SETBP1","SF3B4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LACK_OF_T_CELL_FUNCTION":{"collection":"C5:HPO","systematicName":"M36697","pmid":"","exactSource":"HP:0005354","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005354","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LACK_OF_T_CELL_FUNCTION","geneSymbols":["ADA","AK2","CIITA","JAK3","RFX5","RFXANK","RFXAP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DECREASED_CIRCULATING_COMPLEMENT_FACTOR_I_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M36698","pmid":"","exactSource":"HP:0005356","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005356","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_CIRCULATING_COMPLEMENT_FACTOR_I_CONCENTRATION","geneSymbols":["C1QA","CFH","CFHR1","CFHR3","CFI"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SEVERE_B_LYMPHOCYTOPENIA":{"collection":"C5:HPO","systematicName":"M36699","pmid":"","exactSource":"HP:0005365","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005365","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEVERE_B_LYMPHOCYTOPENIA","geneSymbols":["ADA","DCLRE1C","NFKB2","PRIM1","RAG1","RAG2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_HUMORAL_IMMUNITY":{"collection":"C5:HPO","systematicName":"M36700","pmid":"","exactSource":"HP:0005368","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005368","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_HUMORAL_IMMUNITY","geneSymbols":["AARS1","ADA","ADA2","ADAM17","ADAMTS3","AICDA","AK2","ALB","ALG12","ARHGEF1","ATM","ATP6AP1","ATP6AP2","B2M","BACH2","BANK1","BCL10","BLK","BLM","BLNK","BTK","C1QA","C1QB","C1QC","C1S","C3","C4A","C4B","C5","C6","C7","C8A","C8B","C9","CARD10","CARD11","CARD9","CARMIL2","CARS1","CASP10","CASP8","CAVIN1","CCBE1","CCND1","CD19","CD247","CD27","CD28","CD3D","CD3E","CD3G","CD40","CD40LG","CD46","CD55","CD70","CD79A","CD79B","CD81","CDCA7","CDSN","CFB","CFD","CFH","CFHR1","CFHR3","CFI","CFP","CIITA","CISD2","CNBP","COG6","COL1A1","COL7A1","CORO1A","CR2","CSNK2A1","CTLA4","CTNNBL1","CTPS1","CXCR4","DCLRE1C","DNASE1","DNASE1L3","DNMT3B","DOCK8","DSG1","EGFR","ELANE","EPG5","ERCC2","ERCC3","ETS1","EXTL3","FAS","FASLG","FAT4","FCGR2B","FCGR3B","FLNA","FNIP1","FOXP3","GALK1","GBA1","GPC3","GPC4","GPR35","GTF2E2","GTF2H5","HELLS","HLA-DQA1","HLA-DQB1","HLA-DRB1","HYOU1","ICOS","IFIH1","IFNGR1","IGHG1","IGHG2","IGHM","IGKC","IGLL1","IKBKB","IKBKG","IKZF1","IL10","IL12A","IL12RB1","IL21","IL21R","IL2RA","IL2RB","IL2RG","IL4R","IL6R","IL6ST","IL7R","IPO8","IRAK1","IRAK4","IRF2BP2","IRF5","IRF8","ITCH","ITGAM","ITK","IVNS1ABP","JAK3","JAZF1","KIAA0319L","KLHDC8B","KNSTRN","KRAS","KRT14","KRT5","KRT74","KRT9","LAMTOR2","LAT","LCK","LIG1","LIG4","LMNA","LMNB2","LRBA","LRRC8A","MAGT1","MALT1","MAN2B1","MASP2","MECP2","MGAT2","MMEL1","MOGS","MPLKIP","MS4A1","MS4A2","MSN","MST1","MTHFD1","MTOR","MUC5B","MVK","MYD88","MYSM1","NAE1","NBN","NCKAP1L","NFE2L2","NFKB1","NFKB2","NFKBIA","NHEJ1","NHLRC2","NLRP1","NRAS","NSMCE3","NTRK1","OAS1","ORAI1","OTULIN","PACS1","PDCD1","PEPD","PGM3","PIGT","PIK3CD","PIK3CG","PIK3R1","PLA2G7","PLCG2","PLVAP","PMM2","POLE","POMP","POU2AF1","PRF1","PRIM1","PRKCD","PSMB4","PSMB8","PSMB9","PSTPIP1","PTEN","PTPN22","PTPRC","PXK","RAC2","RAD50","RAG1","RAG2","RASGRP1","RBM8A","REL","RFX5","RFXANK","RFXAP","RIPK1","RMRP","RNF113A","RNF168","RNU4ATAC","RPA1","RTEL1","SAMD9L","SASH3","SAT1","SCARB2","SEMA4D","SERPING1","SETX","SFTPA2","SFTPC","SH2D1A","SH3KBP1","SIK3","SKIC2","SKIC3","SLC25A13","SLC35C1","SLC39A7","SLC46A1","SLC5A6","SLC7A7","SMARCAL1","SON","SP110","SPI1","SPIB","SPINK5","SPP1","SPPL2A","SRP54","STAT2","STAT3","STAT4","STAT5B","STIM1","STING1","STX11","STXBP2","SYK","TARS1","TCF3","TCF4","TCN2","TERT","TFRC","TGFB1","THBD","TIMM8A","TLR7","TLR8","TNFAIP3","TNFRSF11A","TNFRSF13B","TNFRSF13C","TNFRSF1B","TNFRSF9","TNFSF12","TNFSF15","TNFSF4","TNIP1","TNPO3","TOM1","TONSL","TP53","TPP2","TREX1","TRMU","TRNT1","TTC7A","TYK2","TYMS","UBE2L3","UNC13D","UNG","VPS33A","VPS45","WAS","XIAP","ZAP70","ZBTB24","ZEB2","ZNF341"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CELLULAR_IMMUNODEFICIENCY":{"collection":"C5:HPO","systematicName":"M36701","pmid":"","exactSource":"HP:0005374","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005374","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CELLULAR_IMMUNODEFICIENCY","geneSymbols":["ACP5","AK2","AKT1","ATM","CDCA7","CREBBP","CTC1","DKC1","DNMT3B","EP300","EPG5","FOXN1","FRAS1","HELLS","KLLN","NHP2","NOP10","NPM1","PARN","PIK3CA","PTEN","RMRP","RTEL1","SDHB","SDHC","SDHD","SEC23B","SMARCAL1","TBCE","TERC","TERT","TINF2","TYMS","USB1","USF3","WRAP53","ZBTB24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RECURRENT_HAEMOPHILUS_INFLUENZAE_INFECTIONS":{"collection":"C5:HPO","systematicName":"M36702","pmid":"","exactSource":"HP:0005376","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005376","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_HAEMOPHILUS_INFLUENZAE_INFECTIONS","geneSymbols":["CEACAM3","CEACAM6","CFI","CFTR","CLCA4","DCTN4","EDNRA","GCLC","GSTM3","HFE","HMOX1","IL2RG","KCNN4","MIF","RPGR","SCNN1A","SCNN1B","SCNN1G","SERPINA1","SLC11A1","SLC26A9","SLC6A14","SLC9A3","STX1A","TGFB1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RECURRENT_PROTOZOAN_INFECTIONS":{"collection":"C5:HPO","systematicName":"M43308","pmid":"","exactSource":"HP:0005386","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005386","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_PROTOZOAN_INFECTIONS","geneSymbols":["CIITA","IL12RB1","RFX5","RFXANK","RFXAP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_COMBINED_IMMUNODEFICIENCY":{"collection":"C5:HPO","systematicName":"M36704","pmid":"","exactSource":"HP:0005387","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005387","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_COMBINED_IMMUNODEFICIENCY","geneSymbols":["ACP5","ADA","AK2","BCL11B","BUB1B","CD19","CD3D","CHD7","CR2","DCLRE1C","DOCK2","EXTL3","ICOS","IKZF1","IL2RG","IL7R","IRF2BP2","JAK3","KNSTRN","LIG4","MGAT2","MS4A1","MTHFD1","NFKB1","NFKB2","PGM3","PI4KA","PIK3CD","PNP","PRKDC","RAG1","RAG2","RMRP","TNFRSF13B","TNFRSF13C","TTC7A","XRCC4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RECURRENT_OPPORTUNISTIC_INFECTIONS":{"collection":"C5:HPO","systematicName":"M41313","pmid":"","exactSource":"HP:0005390","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005390","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_OPPORTUNISTIC_INFECTIONS","geneSymbols":["ADA","DCLRE1C","IL2RG","IL7R","JAK3","NHP2","PNP","RAG1","RAG2","ZAP70"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RECURRENT_CANDIDA_INFECTIONS":{"collection":"C5:HPO","systematicName":"M36705","pmid":"","exactSource":"HP:0005401","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005401","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_CANDIDA_INFECTIONS","geneSymbols":["BTD","CD247","CD3D","CD3E","CIITA","CTLA4","DOCK8","GJB2","GJB6","IL12RB1","IL7R","RFX5","RFXANK","RFXAP","SLC39A4","ZAP70","ZBTB24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_T_LYMPHOCYTOPENIA":{"collection":"C5:HPO","systematicName":"M36706","pmid":"","exactSource":"HP:0005403","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005403","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_T_LYMPHOCYTOPENIA","geneSymbols":["ACP5","ADA","ATM","BCL11B","BTK","CASP10","CD247","CD3D","CD3G","CD8A","CIITA","DNMT3B","DOCK2","DOCK8","EPG5","EXTL3","FAS","FASLG","FCHO1","FOXN1","IKBKB","IL2RA","IL2RG","IL7","IL7R","ITK","IVNS1ABP","JAK3","KNSTRN","LCK","LEP","LEPR","MAGT1","MCM10","MYC","MYD88","NBN","NHEJ1","NSMCE3","PGM3","PIK3CD","PIK3CG","PRKCD","PRKDC","PTPRC","RAC2","RAG1","RAG2","RASGRP1","RFX5","RFXANK","RFXAP","RIPK1","SASH3","SP110","STAT1","SYK","TBX2","TOM1","UNC119","WAS","WIPF1","ZAP70"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INCREASED_B_CELL_COUNT":{"collection":"C5:HPO","systematicName":"M41315","pmid":"","exactSource":"HP:0005404","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005404","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_B_CELL_COUNT","geneSymbols":["CARD11","CASP10","FAS","FASLG","IKBKG","NCKAP1L","NFKBIA","PRKCD","PTPRC","RASGRP1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RECURRENT_BACTERIAL_SKIN_INFECTIONS":{"collection":"C5:HPO","systematicName":"M36707","pmid":"","exactSource":"HP:0005406","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005406","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_BACTERIAL_SKIN_INFECTIONS","geneSymbols":["ADAM17","BTK","CARMIL2","CTSC","CYBA","CYBB","DOCK8","EGFR","EPHB4","GATA1","GJB2","GJB6","IL10RA","IL17RA","IL2RG","LAMA3","LAMB3","LAMC2","LCP2","LYST","MYD88","NCF1","NCF2","OTULIN","PSEN1","PSENEN","UBE2A","UROD","UROS","ZAP70"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DECREASED_PROPORTION_OF_CD4_POSITIVE_HELPER_T_CELLS":{"collection":"C5:HPO","systematicName":"M43309","pmid":"","exactSource":"HP:0005407","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005407","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_PROPORTION_OF_CD4_POSITIVE_HELPER_T_CELLS","geneSymbols":["ATM","CASP10","CIITA","DOCK8","EPG5","EXTL3","FAS","FASLG","IKBKB","IL2RG","IL7R","ITK","IVNS1ABP","KNSTRN","LCK","LEP","LEPR","MAGT1","MYC","NSMCE3","PGM3","PIK3CD","PRKCD","RASGRP1","RFX5","RFXANK","RFXAP","SASH3","TOM1","UNC119","WAS"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DECREASED_PROPORTION_OF_CD8_POSITIVE_T_CELLS":{"collection":"C5:HPO","systematicName":"M36708","pmid":"","exactSource":"HP:0005415","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005415","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_PROPORTION_OF_CD8_POSITIVE_T_CELLS","geneSymbols":["CD3G","CD8A","EXTL3","IKBKB","IL2RG","IL7R","NSMCE3","PIK3CG","WAS","WIPF1","ZAP70"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DECREASED_CIRCULATING_COMPLEMENT_FACTOR_B_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M36709","pmid":"","exactSource":"HP:0005416","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005416","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_CIRCULATING_COMPLEMENT_FACTOR_B_CONCENTRATION","geneSymbols":["CFB","CFH","CFHR1","CFHR3","CFI"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DECREASED_T_CELL_ACTIVATION":{"collection":"C5:HPO","systematicName":"M47103","pmid":"","exactSource":"HP:0005419","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005419","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_T_CELL_ACTIVATION","geneSymbols":["CARMIL2","CASP8","CD40LG","EPG5","LEP","LEPR","MAGT1","RNU4ATAC","TGFB1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RECURRENT_GRAM_NEGATIVE_BACTERIAL_INFECTIONS":{"collection":"C5:HPO","systematicName":"M36710","pmid":"","exactSource":"HP:0005420","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005420","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_GRAM_NEGATIVE_BACTERIAL_INFECTIONS","geneSymbols":["C5","C6","C7","C8B","CEACAM3","CEACAM6","CFB","CFI","CFTR","CLCA4","CYBA","CYBB","DCTN4","EDNRA","GCLC","GSTM3","HFE","HMOX1","IL12RB1","IL2RG","ITGB2","KCNN4","MBL2","MIF","NCF1","NCF2","RPGR","SCNN1A","SCNN1B","SCNN1G","SERPINA1","SLC11A1","SLC26A9","SLC6A14","SLC9A3","STX1A","TGFB1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DECREASED_CIRCULATING_COMPLEMENT_C3_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M36711","pmid":"","exactSource":"HP:0005421","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005421","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_CIRCULATING_COMPLEMENT_C3_CONCENTRATION","geneSymbols":["BANK1","BLK","C3","C4A","C4B","CD46","CFH","CFHR1","CFHR3","CFI","CR2","CTLA4","DNASE1","DNASE1L3","ETS1","FCGR2B","FCGR3B","HLA-DRB1","IGHG1","IL10","IRAK1","IRF5","ITGAM","JAZF1","KIAA0319L","LMNB2","MECP2","PACS1","PDCD1","PRKCD","PTPN22","PXK","SAT1","SPP1","STAT4","THBD","TLR7","TNFAIP3","TNFSF4","TNIP1","TREX1","UBE2L3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RECURRENT_SINOPULMONARY_INFECTIONS":{"collection":"C5:HPO","systematicName":"M36712","pmid":"","exactSource":"HP:0005425","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005425","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_SINOPULMONARY_INFECTIONS","geneSymbols":["ATP6V0A2","BACH2","CASP8","CCDC103","CCDC39","CCDC40","CCDC65","CCNO","CFAP221","CFAP298","CFAP300","CFAP74","CFTR","CLPB","CTNNBL1","DNAAF1","DNAAF11","DNAAF2","DNAAF3","DNAAF4","DNAAF5","DNAAF6","DNAH1","DNAH11","DNAH5","DNAH9","DNAI1","DNAI2","DNAJB13","DNAL1","DOCK8","DRC1","ELANE","FOXJ1","GAS2L2","GAS8","GFI1","HYDIN","LRRC56","MCIDAS","NBN","NEK10","NFKB1","NME5","NME8","ODAD1","ODAD2","ODAD3","ODAD4","OFD1","PIK3CD","PIK3CG","PLCG2","RPGR","RSPH1","RSPH3","RSPH4A","RSPH9","SPAG1","SPEF2","SRP19","SRP54","STAT3","STK36","TCIRG1","TFRC","TNFRSF13B","TTC12","ZMYND10"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RECURRENT_SYSTEMIC_PYOGENIC_INFECTIONS":{"collection":"C5:HPO","systematicName":"M47104","pmid":"","exactSource":"HP:0005429","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005429","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_SYSTEMIC_PYOGENIC_INFECTIONS","geneSymbols":["GPR35","LYST","MST1","SEMA4D","TCF4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RECURRENT_NEISSERIAL_INFECTIONS":{"collection":"C5:HPO","systematicName":"M36713","pmid":"","exactSource":"HP:0005430","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005430","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_NEISSERIAL_INFECTIONS","geneSymbols":["C5","C6","C7","C8B","CFB","CFI","MBL2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_IMPAIRED_T_CELL_FUNCTION":{"collection":"C5:HPO","systematicName":"M36714","pmid":"","exactSource":"HP:0005435","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005435","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRED_T_CELL_FUNCTION","geneSymbols":["AK2","ARVCF","CD19","CD3E","COG6","COMT","CR2","CTPS1","DGCR2","DGCR6","DGCR8","ESS2","GP1BB","HIRA","ICOS","JMJD1C","LIG1","MRTFA","PNP","RASGRP1","RREB1","SEC24C","SLC39A4","SMARCAL1","TBX1","TGFB1","TNFRSF13B","TNFRSF13C","UFD1","UMPS","WIPF1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ENLARGED_POSTERIOR_FOSSA":{"collection":"C5:HPO","systematicName":"M41316","pmid":"","exactSource":"HP:0005445","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005445","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ENLARGED_POSTERIOR_FOSSA","geneSymbols":["ABCC9","ACADVL","AFF3","ALDH18A1","ALDH7A1","ALG3","AP1S2","APC2","ARID1A","ARID1B","ARID2","ARMC9","ASXL1","ATP6V0A2","ATP6V1A","ATP6V1B2","ATP6V1E1","B3GALNT2","B4GALT1","B4GAT1","B9D1","B9D2","BANF1","BCOR","BLTP1","BRF1","BUB1","BUB1B","BUB3","C2CD3","CAMSAP1","CC2D2A","CCDC22","CDC42","CDH2","CDKN1C","CEP120","CEP290","CEP57","CHD7","CLP1","CNOT3","COG1","COL4A1","CPLANE1","CPT2","CRPPA","CSF1R","CSPP1","CTU2","DAG1","DDX3X","DENND5A","DHCR7","DOK7","DPF2","DPH1","DPH2","DPH5","DPYSL5","DYNC2H1","DYNC2I1","DYNC2I2","EBP","EDEM3","ESCO2","EVC","EVC2","EXOSC8","FAR1","FBXO28","FGFR1","FKRP","FKTN","FLNB","FLVCR2","FOXC1","FTO","GJB2","GJB6","GLI3","GPC3","GPC4","GTPBP2","HRAS","HYLS1","IFT80","IGF2","IL6ST","KATNB1","KCNQ1","KCNQ1OT1","KIAA0586","KIF21A","KIF5A","KIF7","KRAS","LARGE1","MAB21L1","MAN2B1","MAPKAPK5","MBD5","MID1","MKS1","MTM1","MUSK","MYOD1","NDUFC2","NEK8","NPHP3","NRAS","NSD1","NUP88","OFD1","OPHN1","PACS2","PGAP2","PHGDH","PIEZO2","PIGN","PIGU","PITX1","PLCH1","PLG","PLPBP","PMM2","PMPCA","POGZ","POLR2A","POLR3A","POMGNT1","POMGNT2","POMK","POMT1","POMT2","PPP1CB","PRX","RAB18","RAC1","RAPSN","RNF113A","RNU12","RPGRIP1","RPGRIP1L","RXYLT1","SEMA3E","SETD2","SH2B1","SH3PXD2B","SLC18A3","SLC31A1","SLC35A2","SLC5A6","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SMG9","SOX11","SOX4","SUFU","TBC1D24","TCTN1","TCTN2","TCTN3","TIMMDC1","TMEM107","TMEM138","TMEM216","TMEM231","TMEM237","TMEM67","TRIP13","TUBA1A","TUBB","TUBB2A","TXNDC15","USP9X","VPS35L","VPS51","VRK1","WASHC5","WDR35","WDR73","WDR81","ZIC1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CALVARIAL_OSTEOSCLEROSIS":{"collection":"C5:HPO","systematicName":"M43310","pmid":"","exactSource":"HP:0005450","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005450","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CALVARIAL_OSTEOSCLEROSIS","geneSymbols":["ANKH","AP1S2","DVL1","FAM111A","KL","LRP5","TBCE","TCIRG1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABSENT_HYPOPLASTIC_PARANASAL_SINUSES":{"collection":"C5:HPO","systematicName":"M36715","pmid":"","exactSource":"HP:0005453","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005453","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_HYPOPLASTIC_PARANASAL_SINUSES","geneSymbols":["AMER1","FUCA1","RUNX2","SFRP4","SIX2","SMCHD1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CRANIOFACIAL_DISPROPORTION":{"collection":"C5:HPO","systematicName":"M45419","pmid":"","exactSource":"HP:0005461","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005461","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CRANIOFACIAL_DISPROPORTION","geneSymbols":["CA2","FIG4","IGF2","KCNA1","LMNA","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CALCIFICATION_OF_FALX_CEREBRI":{"collection":"C5:HPO","systematicName":"M41317","pmid":"","exactSource":"HP:0005462","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005462","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CALCIFICATION_OF_FALX_CEREBRI","geneSymbols":["ABCC6","COL11A1","DDR2","PTCH1","SUFU","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CRANIOFACIAL_OSTEOSCLEROSIS":{"collection":"C5:HPO","systematicName":"M36716","pmid":"","exactSource":"HP:0005464","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005464","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CRANIOFACIAL_OSTEOSCLEROSIS","geneSymbols":["AMER1","ANKH","AP1S2","CLCN7","CSF1R","DVL1","FAM111A","KL","LRP5","PLEKHM1","SLC39A14","SOST","TBCE","TCIRG1","TGFB1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FACIAL_HYPEROSTOSIS":{"collection":"C5:HPO","systematicName":"M36717","pmid":"","exactSource":"HP:0005465","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005465","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FACIAL_HYPEROSTOSIS","geneSymbols":["AKT1","AMER1","GJA1","PTDSS1","SOST"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FLAT_OCCIPUT":{"collection":"C5:HPO","systematicName":"M36718","pmid":"","exactSource":"HP:0005469","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005469","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FLAT_OCCIPUT","geneSymbols":["ADSL","AMER1","ASPM","CYP27B1","CYP2R1","DPM1","EHMT1","EZH2","FGFR2","FIG4","HK1","IL11RA","INPPL1","KIF11","MAN1B1","MAN2B1","MCTP2","METTL23","OCA2","OCRL","OTUD6B","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PPP1R21","PTCH1","RALGAPA1","RPS23","SATB2","SETD1B","SH3PXD2B","SLC25A12","SLC34A3","SLC35A1","SNRPN","SYNE1","TAF1","TMEM70","TUBB3","TWIST1","UBE3A","UBE3B","UFC1","VDR","WDR73","ZIC1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DECREASED_CALVARIAL_OSSIFICATION":{"collection":"C5:HPO","systematicName":"M36719","pmid":"","exactSource":"HP:0005474","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005474","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_CALVARIAL_OSSIFICATION","geneSymbols":["ALPL","COL1A1","COL1A2","CREB3L1","CRTAP","FGFR2","FIG4","IFT43","INTU","LAMA5","P3H1","PPIB","PPP3CA","SERPINH1","TXNDC15","WNT7A","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DECREASED_CIRCULATING_IGE":{"collection":"C5:HPO","systematicName":"M45420","pmid":"","exactSource":"HP:0005479","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005479","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_CIRCULATING_IGE","geneSymbols":["BACH2","BTK","CD40","CD40LG","IL2RG","LCK","TCF3","TOM1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_EPIGLOTTIS_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M36720","pmid":"","exactSource":"HP:0005483","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005483","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_EPIGLOTTIS_MORPHOLOGY","geneSymbols":["ASAH1","C2CD3","CILK1","DYNC2H1","DYNC2I1","DYNC2I2","DYNC2LI1","EIF4A3","FGF10","FGFR2","FGFR3","FOXE1","FREM2","GLI3","IFT80","KRT14","KRT5","NEK1","PRRX1","SERPING1","SETBP1","SF3B4","WDR35"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SECONDARY_MICROCEPHALY":{"collection":"C5:HPO","systematicName":"M36721","pmid":"","exactSource":"HP:0005484","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005484","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SECONDARY_MICROCEPHALY","geneSymbols":["ACBD5","ACO2","ACTG1","ADAM22","AGTPBP1","ALG1","ALG12","ALG9","AMPD2","ARFGEF2","ARNT2","ASNS","ATP10A","ATP1A2","ATP5PO","ATP6V0A2","ATP6V1A","ATP6V1E1","ATP9A","BRAT1","C2orf69","CACNA1B","CARS2","CASK","CC2D1A","CCDC88A","CDC42","CDC45","CDKL5","CERT1","CHMP1A","CLP1","CLPB","CLTC","CNP","COG1","COG2","COG6","COG7","COG8","COQ9","CREBBP","CRLS1","CTNNA2","DCX","DEGS1","DHFR","DIAPH1","DNM1","DOLK","DPM1","DPM2","EEF1A2","EFTUD2","EIF2B1","EMC1","EP300","ERCC6","ERCC8","EXOC2","EXOSC3","EXOSC8","EXOSC9","EXTL3","FAR1","FGF12","FOXG1","FOXRED1","FRA10AC1","FTO","GABBR2","GABRA5","GABRB2","GLS","GLYCTK","GOLGA2","GON7","GOT2","GPT2","GRIA2","GRIN2A","HIKESHI","HNRNPH2","HNRNPR","HSPD1","HTRA2","IARS1","IQSEC2","JAM3","KIF5C","LAMB2","LGI3","MBD5","MDH1","MECP2","MED17","MFF","MFSD2A","MGAT2","MICOS13","MPC1","NACC1","NAPB","NAT8L","NDUFA11","NDUFS1","NEXMIF","NGLY1","NTNG1","NTRK2","OCA2","PAFAH1B1","PARS2","PCDH12","PCLO","PIGA","PLAA","PLEKHG2","PLPBP","PMPCB","PNKP","PNPO","POMK","PPP1R12A","PPT1","PRORP","PSAT1","PTRH2","PUF60","PUS3","PYCR2","QARS1","RAB18","RAB3GAP2","RARS2","RNASEH2A","RNASEH2C","RNF113A","RUSC2","SATB1","SCN1A","SCN8A","SDHD","SEPSECS","SLC12A5","SLC18A2","SLC1A4","SLC25A12","SLC25A22","SLC25A46","SLC2A1","SLC39A14","SMC1A","SMC3","SMPD4","SNAP29","SNRPN","SPTAN1","STAMBP","TAF2","TBC1D20","TBC1D24","TBCD","TCF4","TMEM165","TOE1","TRAPPC12","TRAPPC2L","TRAPPC6B","TRAPPC9","TREX1","TRIO","TSEN15","TSEN2","TSEN34","TSEN54","TUBGCP2","UBA5","UBE3A","UBTF","UFC1","VARS1","VPS11","VPS50","VPS53","VRK1","WARS1","WDR37","WDR73","WWOX","YRDC","ZEB2","ZNHIT3","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PROMINENT_METOPIC_RIDGE":{"collection":"C5:HPO","systematicName":"M36722","pmid":"","exactSource":"HP:0005487","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005487","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROMINENT_METOPIC_RIDGE","geneSymbols":["ABCC8","ACTB","ACTG1","ADAMTSL1","ADARB1","ADSL","ALG9","ASXL1","ATIC","CAMSAP1","CDC6","CDKN1C","CLCN3","COL25A1","ERCC1","ERCC2","ERCC5","ERCC6","ERMARD","FOXG1","GCK","GJA5","GJA8","GNPTAB","H3-3B","HNRNPK","HNRNPU","IFT140","IGF2","IL11RA","INS","INTU","KANSL1","KCNJ11","KCNQ1","KCNQ1OT1","KDM4B","KDM5B","LMX1B","MAF","MAP1B","MAPK1","MID1","NAA10","NARS2","NOTCH3","NSRP1","NUP188","PDX1","PPP2R1A","PURA","RNU4ATAC","RTTN","SC5D","SMARCD1","SMG9","SRCAP","STAT3","STXBP1","TBCK","TOGARAM1","TWIST1","ZFHX4","ZNF292","ZNF462"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_POSTNATAL_MACROCEPHALY":{"collection":"C5:HPO","systematicName":"M46111","pmid":"","exactSource":"HP:0005490","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005490","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POSTNATAL_MACROCEPHALY","geneSymbols":["FAM111A","GNB1","MED12","PAK1","PTEN","SETD2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_REFRACTORY_ANEMIA":{"collection":"C5:HPO","systematicName":"M36723","pmid":"","exactSource":"HP:0005505","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005505","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REFRACTORY_ANEMIA","geneSymbols":["BMPR1A","CP","DDX41","GREM1","PTEN","TBXAS1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CHRONIC_MYELOGENOUS_LEUKEMIA":{"collection":"C5:HPO","systematicName":"M36724","pmid":"","exactSource":"HP:0005506","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005506","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHRONIC_MYELOGENOUS_LEUKEMIA","geneSymbols":["ABL1","BCR","JAK2","MPL","THPO"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INCREASED_MEGAKARYOCYTE_COUNT":{"collection":"C5:HPO","systematicName":"M36725","pmid":"","exactSource":"HP:0005513","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005513","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_MEGAKARYOCYTE_COUNT","geneSymbols":["CALR","JAK2","MPL","SF3B1","SH2B3","TET2","TP53"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DISSEMINATED_INTRAVASCULAR_COAGULATION":{"collection":"C5:HPO","systematicName":"M36727","pmid":"","exactSource":"HP:0005521","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005521","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DISSEMINATED_INTRAVASCULAR_COAGULATION","geneSymbols":["BCOR","CD46","CFH","CFI","FIP1L1","HELLPAR","IL6ST","IRF2BP2","LIPA","LPIN1","MT-CO1","MT-CO3","NABP1","NFS1","NLRC4","NPM1","NUMA1","OBSCN","PML","PRKAR1A","PROS1","RARA","RASA1","RYR1","SERPIND1","STAT3","STAT5B","TBL1XR1","ZBTB16"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PYRIDOXINE_RESPONSIVE_SIDEROBLASTIC_ANEMIA":{"collection":"C5:HPO","systematicName":"M41318","pmid":"","exactSource":"HP:0005522","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005522","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PYRIDOXINE_RESPONSIVE_SIDEROBLASTIC_ANEMIA","geneSymbols":["BRCA1","BRCA2","BRIP1","ERCC4","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","MAD2L2","PALB2","PNPO","RAD51","RAD51C","RFWD3","SLX4","UBE2T","XRCC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LYMPHOPROLIFERATIVE_DISORDER":{"collection":"C5:HPO","systematicName":"M36728","pmid":"","exactSource":"HP:0005523","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005523","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LYMPHOPROLIFERATIVE_DISORDER","geneSymbols":["ADA2","CD27","CD70","CTPS1","IL2RG","ITK","KRAS","LRBA","MAGT1","MCM4","MYD88","NRAS","PRKCD","SMARCAL1","STK4","WAS","ZAP70"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SPONTANEOUS_HEMOLYTIC_CRISES":{"collection":"C5:HPO","systematicName":"M36729","pmid":"","exactSource":"HP:0005525","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005525","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPONTANEOUS_HEMOLYTIC_CRISES","geneSymbols":["ANK1","EPB42","GPI","SLC2A1","SLC4A1","SPTA1","SPTB"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BONE_MARROW_HYPOCELLULARITY":{"collection":"C5:HPO","systematicName":"M36730","pmid":"","exactSource":"HP:0005528","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005528","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BONE_MARROW_HYPOCELLULARITY","geneSymbols":["ACD","ADA2","ADH5","BRCA2","BRIP1","CA2","CASP10","CLCN7","CLPB","CTC1","DCLRE1B","DDX41","DKC1","DNAJC21","EFL1","ERCC4","ERCC6L2","FANCC","FANCD2","FANCF","FANCI","FANCL","FAS","FASLG","FLI1","GATA1","GATA2","GNAS","IFNG","IVD","LBR","MAD2L2","MDM4","MYSM1","NBN","NHP2","NOP10","NPM1","PARN","PGM3","PRF1","PRKCD","RAD51","RASGRP1","RPA1","RPL26","RPS14","RTEL1","SAMD9","SBDS","SF3B1","SMARCAL1","SRP54","SRP72","STN1","TBXAS1","TERC","TERT","TET2","TGFB1","TINF2","TLR8","TYMS","UBE2T","USB1","VPS33A","WDR19","WRAP53","ZCCHC8"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_REDUCED_PROTEIN_C_ACTIVITY":{"collection":"C5:HPO","systematicName":"M43311","pmid":"","exactSource":"HP:0005543","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005543","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_PROTEIN_C_ACTIVITY","geneSymbols":["ALG12","ALG6","ALG8","B4GALT1","DPM1","GGCX","MPI","NGLY1","PROC"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MYELOPROLIFERATIVE_DISORDER":{"collection":"C5:HPO","systematicName":"M36731","pmid":"","exactSource":"HP:0005547","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005547","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MYELOPROLIFERATIVE_DISORDER","geneSymbols":["ABL1","ALAD","ASXL1","BCR","CALR","GATA1","GATA2","JAK2","KIT","MPL","PDGFRA","PDGFRB","RUNX1","SH2B3","SRSF2","TET2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MEGAKARYOCYTOPENIA":{"collection":"C5:HPO","systematicName":"M46112","pmid":"","exactSource":"HP:0005548","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005548","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MEGAKARYOCYTOPENIA","geneSymbols":["GNA14","HOXA11","KIF15","MPL","ZNFX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CHRONIC_LYMPHATIC_LEUKEMIA":{"collection":"C5:HPO","systematicName":"M41319","pmid":"","exactSource":"HP:0005550","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005550","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHRONIC_LYMPHATIC_LEUKEMIA","geneSymbols":["ADAR","ASXL1","IFIH1","KIT","LSM11","MEFV","PIK3R1","RNASEH2A","RNASEH2B","RNASEH2C","RNU7-1","SAMHD1","SRSF2","TET2","TREX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_METOPIC_SUTURE":{"collection":"C5:HPO","systematicName":"M36732","pmid":"","exactSource":"HP:0005556","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005556","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_METOPIC_SUTURE","geneSymbols":["ABCC8","ACTB","ACTG1","ADAMTSL1","ADARB1","ADSL","ALG9","ASXL1","ASXL3","ATIC","CAMSAP1","CDC6","CDK8","CDKN1C","CLCN3","COL25A1","DDB1","DIAPH1","ERCC1","ERCC2","ERCC5","ERCC6","ERF","ERMARD","FGFR1","FGFR2","FOXG1","FREM1","GCK","GJA5","GJA8","GLI3","GNPTAB","GPC3","GPC4","H3-3B","HERC1","HNRNPK","HNRNPU","IFT140","IGF2","IL11RA","INS","INTU","KANSL1","KCNJ11","KCNQ1","KCNQ1OT1","KDM4B","KDM5B","LMX1B","MAF","MAP1B","MAPK1","MID1","MSX2","NAA10","NARS2","NFIA","NOTCH3","NSRP1","NUP188","OTUD5","PCDHGC4","PDX1","PIGA","PIGT","PPFIBP1","PPP2R1A","PTCH1","PURA","RNU4ATAC","RTTN","SC5D","SETBP1","SIX2","SMARCD1","SMG9","SON","SRCAP","STAT3","STXBP1","TBCK","TMEM216","TOGARAM1","TWIST1","WDR35","ZFHX4","ZNF292","ZNF462"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CHRONIC_LEUKEMIA":{"collection":"C5:HPO","systematicName":"M36733","pmid":"","exactSource":"HP:0005558","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005558","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHRONIC_LEUKEMIA","geneSymbols":["ABL1","ADAR","ASXL1","BCR","IFIH1","JAK2","KIT","LSM11","MEFV","MPL","PIK3R1","RNASEH2A","RNASEH2B","RNASEH2C","RNU7-1","SAMHD1","SRSF2","TET2","THPO","TREX1","WAS","WIPF1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_BONE_MARROW_CELL_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M36735","pmid":"","exactSource":"HP:0005561","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005561","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_BONE_MARROW_CELL_MORPHOLOGY","geneSymbols":["ACD","ACP5","ADA2","ADH5","ALPK1","AMN","ANAPC1","ANKRD26","ASXL1","ATM","ATR","BACH2","BCOR","BRCA2","BRIP1","CA2","CALR","CARD11","CASP10","CBL","CCND1","CD27","CD28","CIITA","CLCN7","CLPB","COG6","COQ2","CSF3R","CTC1","CTLA4","CUBN","CXCR2","CXCR4","DCLRE1B","DDX41","DHFR","DKC1","DNAJC21","DNASE2","DPP9","DUT","DYNC2LI1","EFL1","ELANE","ERCC4","ERCC6L2","EVC","EVC2","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCI","FANCL","FARSB","FAS","FASLG","FIP1L1","FLI1","FLNA","FYB1","GATA1","GATA2","GBA1","GFI1","GFI1B","GLI1","GNA14","GNAS","GP1BA","GP1BB","GP9","HAVCR2","HLA-DRB1","HOXA11","HPGD","IFIH1","IFNG","IKZF1","IRF2BP2","IRF8","ITCH","ITK","IVD","JAGN1","JAK2","KIF15","KIT","KRAS","LBR","LIG4","LMBRD1","LPIN2","LRBA","LYST","MAD2L2","MAN2B1","MDM4","MMAA","MMAB","MMADHC","MPIG6B","MPL","MRPS7","MTHFD1","MTRR","MYC","MYH9","MYSM1","NABP1","NAXD","NBEAL2","NBN","NHP2","NLRC4","NOP10","NPM1","NRAS","NUMA1","OSTM1","PALB2","PARN","PCCA","PCCB","PGM3","PIGA","PIGM","PML","PRF1","PRKACA","PRKACB","PRKAR1A","PRKCD","PSTPIP1","PTPRC","RAB27A","RAC2","RAD51","RARA","RASGRP1","RECQL4","RFWD3","RFX5","RFXANK","RFXAP","RNASEH2A","RPA1","RPL18","RPL26","RPS14","RTEL1","RUNX1","SAMD9","SAMD9L","SARS2","SBDS","SCARB2","SF3B1","SH2B3","SH2D1A","SHOC2","SLC35A1","SLC46A1","SLC7A7","SLCO2A1","SLX4","SMARCAL1","SMARCD2","SP110","SRC","SRP19","SRP54","SRP72","SRSF2","STAT3","STAT5B","STN1","STX11","STXBP2","TALDO1","TBL1XR1","TBXAS1","TCF3","TCIRG1","TCN2","TERC","TERT","TET2","TGFB1","TINF2","TLR8","TNFRSF1B","TNFRSF4","TNFRSF9","TNFSF11","TP53","TYMS","UBA1","UBE2T","UNC13D","USB1","VPS33A","WAS","WDR19","WRAP53","XIAP","XRCC4","ZBTB16","ZCCHC8","ZNF699","ZNFX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MULTIPLE_RENAL_CYSTS":{"collection":"C5:HPO","systematicName":"M36736","pmid":"","exactSource":"HP:0005562","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005562","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MULTIPLE_RENAL_CYSTS","geneSymbols":["ALG5","ARVCF","BAZ1B","BCL7B","BMPER","BUD23","CCND1","CLIP2","COL4A1","COMT","DACT1","DHX16","DNAJC30","EIF4H","ELN","FKBP6","FLNB","GP1BB","GTF2I","GTF2IRD1","GTF2IRD2","HIRA","JMJD1C","LIMK1","LRP5","METTL27","MLXIPL","NCF1","NOTCH2","OCRL","PEX13","PKD2","PMM2","PRKCSH","RFC2","RREB1","SALL1","SEC24C","SEC63","STK11","STX1A","TBL2","TBX1","TMEM270","TSC1","TSC2","UFD1","VHL","VPS37D"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABSENCE_OF_RENAL_CORTICOMEDULLARY_DIFFERENTIATION":{"collection":"C5:HPO","systematicName":"M46113","pmid":"","exactSource":"HP:0005564","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005564","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENCE_OF_RENAL_CORTICOMEDULLARY_DIFFERENTIATION","geneSymbols":["H4C3","IFNG","INVS","PAX2","PBX1","PKHD1","TSC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_REDUCED_RENAL_CORTICOMEDULLARY_DIFFERENTIATION":{"collection":"C5:HPO","systematicName":"M41320","pmid":"","exactSource":"HP:0005565","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005565","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_RENAL_CORTICOMEDULLARY_DIFFERENTIATION","geneSymbols":["ACTN4","BSND","CEP290","CLCN7","DCDC2","DHX16","DZIP1L","IFT140","NIPBL","PDCD6IP","PKHD1","TMEM67","TULP3","VPS33B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RENAL_MAGNESIUM_WASTING":{"collection":"C5:HPO","systematicName":"M36737","pmid":"","exactSource":"HP:0005567","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005567","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RENAL_MAGNESIUM_WASTING","geneSymbols":["ATP1A1","CLDN16","CLDN19","FXYD2","IFT122","KCNJ10","SLC12A3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HEMOLYTIC_UREMIC_SYNDROME":{"collection":"C5:HPO","systematicName":"M36738","pmid":"","exactSource":"HP:0005575","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005575","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEMOLYTIC_UREMIC_SYNDROME","geneSymbols":["ADAMTS13","C3","CD46","CFB","CFH","CFHR1","CFHR3","CFI","COG1","DGKE","MMACHC","MTRR","PRDX1","THBD","TMEM165","ZNFX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DUPLICATION_OF_RENAL_PELVIS":{"collection":"C5:HPO","systematicName":"M41321","pmid":"","exactSource":"HP:0005580","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005580","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DUPLICATION_OF_RENAL_PELVIS","geneSymbols":["GPC3","GPC4","KCTD1","SLC6A17","ZEB2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RENAL_CELL_CARCINOMA":{"collection":"C5:HPO","systematicName":"M36739","pmid":"","exactSource":"HP:0005584","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005584","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RENAL_CELL_CARCINOMA","geneSymbols":["AAGAB","AKT1","APC","ARMC5","AURKA","AXIN2","BAP1","BAX","BRAF","BUB1","BUB1B","CCND1","CDC73","CHEK2","COL14A1","CTNNB1","DCC","DICER1","DLC1","DLST","EP300","FGFR3","FH","FLCN","FOXE1","GNAS","HABP2","HNF1A","HNF1B","IFNG","KEAP1","KIF1B","KLLN","LMNA","MAX","MCC","MDH2","MET","MINPP1","MLH3","NF1","NOD2","NRAS","OGG1","PBRM1","PDGFRL","PIK3CA","PLA2G2A","PRCC","PTEN","PTPN12","PTPRJ","RAD54B","RET","RNF139","SDHA","SDHAF2","SDHB","SDHC","SDHD","SEC23B","SLC25A11","SRC","STK11","TFE3","TLR2","TMEM127","TP53","TSC1","TSC2","USF3","VHL"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SPOTTY_HYPERPIGMENTATION":{"collection":"C5:HPO","systematicName":"M36740","pmid":"","exactSource":"HP:0005585","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005585","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPOTTY_HYPERPIGMENTATION","geneSymbols":["BANF1","CRIPT","FERMT1","KRT14","KRT5","LYST","PDE11A","PRKAR1A","SRD5A3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPERPIGMENTATION_IN_SUN_EXPOSED_AREAS":{"collection":"C5:HPO","systematicName":"M36741","pmid":"","exactSource":"HP:0005586","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005586","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERPIGMENTATION_IN_SUN_EXPOSED_AREAS","geneSymbols":["DSTYK","HPS1","KRT14","MC1R","OCA2","POLH","UROD"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PATCHY_PALMOPLANTAR_HYPERKERATOSIS":{"collection":"C5:HPO","systematicName":"M36742","pmid":"","exactSource":"HP:0005588","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005588","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PATCHY_PALMOPLANTAR_HYPERKERATOSIS","geneSymbols":["DSP","GJA1","GJB3","GJB4","KDSR","TRPV3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SPOTTY_HYPOPIGMENTATION":{"collection":"C5:HPO","systematicName":"M36743","pmid":"","exactSource":"HP:0005590","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005590","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPOTTY_HYPOPIGMENTATION","geneSymbols":["ABCB6","ABCC9","BLM","CRIPT","EBP","FERMT1","KRT14","KRT5","UBE2A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_GENERALIZED_HYPERKERATOSIS":{"collection":"C5:HPO","systematicName":"M36744","pmid":"","exactSource":"HP:0005595","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005595","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENERALIZED_HYPERKERATOSIS","geneSymbols":["AKT1","FUCA1","GJB3","KLLN","KRT10","LMNA","PIK3CA","PTEN","SDHB","SDHC","SDHD","SEC23B","USF3","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPOPIGMENTATION_OF_HAIR":{"collection":"C5:HPO","systematicName":"M47105","pmid":"","exactSource":"HP:0005599","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005599","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPIGMENTATION_OF_HAIR","geneSymbols":["ABCA2","ACD","AP3B1","AP3D1","ATM","ATP10A","ATP7A","BLOC1S3","BLOC1S5","CACNA1F","CHN1","CLCN7","CTC1","CTNS","DCT","DHCR7","DKC1","DPP9","DSTYK","DTNBP1","EDN3","EDNRB","EPG5","FAS","FGFR3","GJB6","GNPTAB","HERC2","HPS1","HPS3","HPS4","HPS5","HPS6","HRAS","IFT140","KANSL1","KIT","KITLG","KRT25","KRT71","KRT74","LAMTOR2","LIPH","LMNA","LPAR6","LRMDA","LRPPRC","LYST","MAFB","MAGEL2","MC1R","MITF","MKRN3","MLPH","MOGS","MYO5A","NDN","NHP2","NOP10","NPAP1","NPM1","OCA2","PADI3","PAH","PARN","PAX3","PDE4D","PEPD","PIGN","PTPN22","PWAR1","PWRN1","RAB27A","RMRP","RTEL1","SALL4","SIM1","SKIC2","SKIC3","SLC17A5","SLC24A5","SLC45A2","SNAI2","SNORD115-1","SNORD116-1","SNRPN","SOX10","TAFAZZIN","TERC","TERT","TFAP2A","TGM3","TINF2","TMCO1","TP63","TYMS","TYR","TYRP1","UBE3A","UBR1","USB1","WDR45","WRAP53","WRN","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LARGE_CAFE_AU_LAIT_MACULES_WITH_IRREGULAR_MARGINS":{"collection":"C5:HPO","systematicName":"M41322","pmid":"","exactSource":"HP:0005605","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005605","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LARGE_CAFE_AU_LAIT_MACULES_WITH_IRREGULAR_MARGINS","geneSymbols":["CDKN1A","CDKN1B","CDKN2B","CDKN2C","GNAS","MEN1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_TRACHEOBRONCHIAL_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M36745","pmid":"","exactSource":"HP:0005607","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005607","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_TRACHEOBRONCHIAL_MORPHOLOGY","geneSymbols":["ABCA3","ADAMTSL2","AFF4","AGR2","AHDC1","ALDH18A1","AMER1","ARHGEF1","ARL2BP","ARNT2","ARSL","ATM","ATP11A","B2M","B3GALT6","BACH2","BAZ1B","BCL7B","BLM","BLNK","BMPER","BRAF","BRCA1","BRCA2","BRIP1","BTK","BTNL2","BUB1","BUD23","C1QB","CARD10","CARD11","CARMIL2","CASP8","CCDC103","CCDC39","CCDC40","CCDC65","CCNO","CD19","CD79A","CD79B","CD81","CD8A","CEACAM3","CEACAM6","CFAP221","CFAP298","CFAP300","CFAP74","CFTR","CHD7","CLCA4","CLIP2","COL2A1","COL4A5","COL4A6","CR2","CTC1","CTLA4","CXCR4","CYBA","CYBB","CYBC1","CYP2A6","DCHS1","DCTN4","DDR2","DDRGK1","DEAF1","DHCR7","DIAPH1","DICER1","DKC1","DNAAF1","DNAAF11","DNAAF2","DNAAF3","DNAAF4","DNAAF5","DNAAF6","DNAH1","DNAH11","DNAH5","DNAH9","DNAI1","DNAI2","DNAJB13","DNAJC30","DNAL1","DNMT3B","DOCK8","DPP9","DRC1","DSP","EBP","EDNRA","EGFR","EHMT1","EIF4H","ELN","EMC1","EMILIN1","ERBB2","ERCC4","ERCC6","ERF","EXTL3","FAM13A","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FASLG","FAT4","FBLN5","FBN2","FCGR2A","FCHO1","FGF20","FGFR1","FGFR2","FKBP6","FLII","FLNB","FNIP1","FOXF1","FOXI1","FOXJ1","FRAS1","FREM2","GAS2L2","GAS8","GCLC","GFRA1","GLMN","GMNN","GNPTAB","GREB1L","GRIP1","GSTM3","GTF2I","GTF2IRD1","GTF2IRD2","HDAC4","HESX1","HFE","HK1","HLA-DPB1","HLA-DRB1","HMOX1","HOXD13","HRAS","HYDIN","HYLS1","ICOS","IDS","IDUA","IGHG2","IGHM","IGKC","IGLL1","IL10RB","IL17RA","IL21R","IL2RG","IL6ST","IQSEC2","IRF1","IRF2BP2","IRF8","IRF9","ITGA8","KANSL1","KAT6A","KCNJ10","KCNN4","KEAP1","KIF22","KIF7","KMT2C","KRAS","KRT14","KRT5","LAT","LBR","LIMK1","LMBRD1","LRBA","LRRC56","LRRC8A","LTBP3","LTBP4","MAD2L2","MAGT1","MALT1","MAP3K7","MAP3K8","MCIDAS","METTL27","MGP","MID1","MIF","MLXIPL","MPEG1","MS4A1","MUC5B","MYCN","MYH11","MYRF","NBN","NCF1","NCF2","NCF4","NCKAP1L","NDUFA6","NEK10","NFKB1","NFKB2","NHP2","NME5","NME8","NOP10","NOTCH3","NPM1","ODAD1","ODAD2","ODAD3","ODAD4","OFD1","ORC4","ORC6","OTX2","PAICS","PAK2","PALB2","PARN","PAX3","PCNT","PDGFRB","PGM3","PI4KA","PIK3CA","PIK3CD","PIK3R1","POLA1","POLE","POLG","POLR1B","POLR1C","POLR1D","POR","PPP2R1B","PRKCD","PRKN","PROKR2","PRRX1","PTEN","RAB3GAP2","RAC1","RAC2","RAD51","RAD51C","RAI1","RALGAPA1","RASGRP1","RET","RFC2","RFWD3","RFX7","RIN2","RIPK1","RMRP","RPGR","RPL5","RSPH1","RSPH3","RSPH4A","RSPH9","RSPO2","RTEL1","SALL1","SASH3","SCNN1A","SCNN1B","SCNN1G","SCUBE3","SEMA3E","SERPINA1","SETD2","SFTPA1","SFTPA2","SFTPC","SLC11A1","SLC12A2","SLC22A18","SLC26A2","SLC26A4","SLC26A9","SLC29A3","SLC34A2","SLC39A7","SLC41A1","SLC6A14","SLC9A3","SLF2","SLX4","SMAD4","SMARCA2","SNRPB","SOX2","SOX3","SOX9","SPAG1","SPEF2","SPI1","STAT1","STK36","STK4","STN1","STX1A","STX3","SYK","TAFAZZIN","TAP1","TAP2","TAPBP","TBL2","TCF3","TCOF1","TERC","TERT","TET2","TGFB1","TINF2","TMEM270","TNFRSF13B","TNFRSF13C","TNFRSF9","TNFSF12","TOM1","TONSL","TP73","TPP2","TRIM2","TRRAP","TTC12","TTC26","TYMS","UBA2","UBE2T","UNC119","USB1","USP26","USP9X","VPS37D","WBP11","WDR1","WDR26","WNT3","WNT7A","WNT9B","WRAP53","XRCC2","ZEB2","ZIC3","ZMYND10","ZNF341","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APLASIA_HYPOPLASIA_OF_THE_FEMUR":{"collection":"C5:HPO","systematicName":"M36746","pmid":"","exactSource":"HP:0005613","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005613","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_FEMUR","geneSymbols":["AGPS","AIFM1","ALG12","AMMECR1","B3GALT6","BHLHA9","BMPR1B","CAMK2A","CANT1","CCN6","CFAP410","CHD4","CHST3","COL11A1","COL2A1","COMP","CPLANE1","CTC1","DDRGK1","DLK1","EXOC6B","FGFR3","FLNB","FN1","GDF5","IDUA","IFNGR1","IFT140","IHH","LBR","MATN3","MBTPS1","MEG3","MMP9","MTHFS","MTX2","NANS","PEX5","PIK3C2A","POC1A","POLR3A","POP1","PRG4","PUF60","RAD21","RNU4ATAC","RSPRY1","RTL1","RUNX2","SALL4","SERPINH1","SHOX","SLC10A7","SLC26A2","SLC31A1","SLC39A13","SUCLG1","TAPT1","TBX15","TBX4","TGDS","TMEM67","TNFRSF11A","TONSL","TRAF3IP1","TRAPPC2","TRPV4","TRPV6","WNT7A","XYLT1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ACCELERATED_SKELETAL_MATURATION":{"collection":"C5:HPO","systematicName":"M36747","pmid":"","exactSource":"HP:0005616","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005616","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACCELERATED_SKELETAL_MATURATION","geneSymbols":["ABCC9","ACAN","AGPAT2","AIP","ALMS1","APC2","ARCN1","ASXL2","B3GAT3","B4GALT7","BSCL2","CANT1","CAV1","CAVIN1","CDKN1C","CHST3","CSGALNACT1","CYP11B1","CYP19A1","DDOST","DDX6","EED","EZH2","FOS","GLI3","GNAS","GPC3","GPC4","GPR101","GPX4","GUSB","H1-4","HSD11B1","IGF2","INPPL1","INSR","KCNJ8","KCNQ1","KCNQ1OT1","KMT2A","LEP","LEPR","LHCGR","MC2R","MEN1","MKRN3","NFIX","NSD1","PDE4D","PPARG","PRKAR1A","PRKG2","PTCH1","PTH1R","RMRP","RNF135","SETD2","SHANK3","SLC10A7","SLC26A2","SLC35D1","SMARCA2","SUZ12","TCF20","TET3","TRPS1","TSHR","UBE3C","XYLT1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BILATERAL_CAMPTODACTYLY":{"collection":"C5:HPO","systematicName":"M43312","pmid":"","exactSource":"HP:0005617","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005617","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BILATERAL_CAMPTODACTYLY","geneSymbols":["APC2","FBXO28","NSD1","POLR3GL","SETD2","ZNF407"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_THORACOLUMBAR_KYPHOSIS":{"collection":"C5:HPO","systematicName":"M36748","pmid":"","exactSource":"HP:0005619","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005619","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THORACOLUMBAR_KYPHOSIS","geneSymbols":["AMER1","CCN6","CDH11","COL2A1","EXTL3","FBXO28","FGFR3","FLNB","GBA1","GLB1","GNPTAB","GUSB","KIF22","LBR","LHX3","MAN2B1","MED12L","MGAT2","NEPRO","NPR2","POP1","SLC26A2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BROAD_LONG_BONES":{"collection":"C5:HPO","systematicName":"M36749","pmid":"","exactSource":"HP:0005622","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005622","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BROAD_LONG_BONES","geneSymbols":["ABCC9","ACAN","ADAMTS10","ADNP","ALX4","AMMECR1","ARX","B3GALT6","B3GAT3","BGN","BICRA","BMP2","BMPR1A","BPTF","CASK","CBFB","CDKL5","CHST3","COL10A1","COL11A1","COL1A1","COL1A2","COL2A1","CREBBP","CTCF","DACT1","DDR2","DHX30","DLK1","DMXL2","DNM1L","DNMT3A","DVL1","DVL3","EED","EFNB1","EP300","EXOSC2","EXTL3","EZH2","FBN1","FGF9","FGFR1","FGFR2","FGFR3","FLI1","FLNA","FLNB","G6PC3","GATA4","GATAD2B","GDF5","GJA1","GJA5","GJA8","GLI3","GNAO1","GNAS","GPC3","GPC4","GPC6","GRIN1","GRM7","H3-3A","H3-3B","HHAT","HNRNPR","HOXD13","HPGD","HS2ST1","HSPG2","IFIH1","IFT122","INPPL1","KCNA1","KCNH1","KCNJ8","KCTD1","KIF22","KNSTRN","LIG4","LMBR1","LYSET","MAN2C1","MAP3K7","MED12","MED25","MEG3","MEGF8","MEIS2","MSX2","NEPRO","NEUROD2","NOG","NPR2","NSD1","NSUN2","NXN","OFD1","OTUD6B","PACS1","PCDHGC4","PDE4D","PIGP","PIGQ","PIK3CD","PNKP","POGZ","PRKD1","PRKG2","PSMD12","PTEN","PUF60","PYCR2","RAB23","RAB33B","RBM8A","RLIM","RNU4ATAC","ROR2","RTL1","SALL1","SALL4","SATB2","SCN1B","SCN2A","SETD5","SHOX","SIAH1","SIK1","SLC25A22","SLC26A2","SLC32A1","SLC35D1","SMARCA2","SMO","SMOC1","SNIP1","SRCAP","SUMF1","SUZ12","TBX5","TRIM8","TRPM3","TTC26","TWIST1","USP9X","WDR19","WLS","WNT5A","XYLT1","ZNF141","ZNF668"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_VERTEBRAL_SEGMENTATION_AND_FUSION":{"collection":"C5:HPO","systematicName":"M36751","pmid":"","exactSource":"HP:0005640","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005640","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_VERTEBRAL_SEGMENTATION_AND_FUSION","geneSymbols":["BMPER","CHN1","FGD1","FLNA","FUZ","GDF3","GDF6","MAFB","MEOX1","SALL4","VANGL1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CORTICAL_SCLEROSIS":{"collection":"C5:HPO","systematicName":"M47106","pmid":"","exactSource":"HP:0005652","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005652","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CORTICAL_SCLEROSIS","geneSymbols":["CLCN7","PLEKHM1","SLC4A2","SOST","TCIRG1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_POSITIONAL_FOOT_DEFORMITY":{"collection":"C5:HPO","systematicName":"M36752","pmid":"","exactSource":"HP:0005656","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005656","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POSITIONAL_FOOT_DEFORMITY","geneSymbols":["ABHD16A","ACTA1","ADAT3","ADGRG6","ALDH18A1","ALDH1A2","ALG12","ALG14","ALG3","ALG8","ALG9","AMER1","AMMECR1","ANK1","AP4B1","AP4E1","AP4M1","AP4S1","APC2","ARHGAP31","ARSI","ARVCF","ATAD1","ATAD3A","ATP6V0A2","ATP6V1A","ATP6V1E1","ATR","ATRX","B3GALT6","B3GAT3","B4GALT7","B9D1","B9D2","BAP1","BCOR","BICD2","BIN1","BLTP1","BMPER","BMPR1B","BRD4","BRPF1","C12orf57","CACNA1B","CACNA1C","CANT1","CC2D2A","CCBE1","CCDC47","CCNQ","CD96","CEP290","CEP55","CHD7","CHMP1A","CHN1","CHRM3","CHRNG","CHST14","CHST3","CILK1","CLCN3","CLTCL1","CNTNAP1","COASY","COG1","COG4","COG8","COL12A1","COL1A1","COL1A2","COL2A1","COL3A1","COL5A1","COL5A2","COL6A1","COL6A2","COL6A3","COLQ","COMT","COQ8A","CPLX1","CREBBP","CRIPT","CRLF1","CSPP1","CTBP1","CTDP1","CTH","CTNNA2","CTU2","DCHS1","DES","DGCR2","DGCR6","DGCR8","DHCR24","DHCR7","DHX16","DLAT","DLL4","DMPK","DOCK6","DOK7","DONSON","DPYS","DSE","DST","DYM","DYNC1H1","DYNC2H1","EBP","ECEL1","EDEM3","EED","EEF1A2","EHMT1","EIF2S3","EIF4A3","ELN","ENTPD1","EOGT","EP300","ERBB2","ERCC1","ERCC2","ERCC5","ERCC6","ERGIC1","ERMARD","ESCO2","ESS2","EVC","EVC2","EXT1","EZH2","FA2H","FANCL","FAT4","FBLN5","FBN1","FBN2","FBXO7","FGD1","FGD4","FGFRL1","FHL1","FIBP","FKBP10","FKBP14","FKTN","FLI1","FLNA","FLNB","FLVCR2","FOXG1","FUZ","GAD1","GAN","GCH1","GDAP1","GDF5","GJA5","GJA8","GLB1","GLDN","GLE1","GLI3","GNPTAB","GORAB","GP1BB","GPC3","GPC4","GPX4","GRIA2","GSC","GTPBP2","GUSB","GZF1","H1-4","HAAO","HACD1","HACE1","HBA1","HBA2","HDAC8","HIRA","HK1","HNRNPK","HRAS","HSD17B4","HSPB1","HSPG2","HYLS1","IFIH1","IGHMBP2","IHH","IL6ST","IMPDH2","IPO8","IRF6","ITGA7","ITGA8","JMJD1C","JPH1","KANSL1","KAT6B","KDM5C","KIDINS220","KIF1A","KMT5B","KY","KYNU","L1CAM","LAMA5","LAMB2","LBR","LETM1","LGI4","LIFR","LIMS2","LMBR1","LMBRD1","LMNA","LMX1B","LONP1","MAFB","MAN2B1","MAN2C1","MAP3K20","MAP3K7","MAPK1","MCTP2","MED13L","MEGF10","MEGF8","MET","MFN2","MFSD2A","MKS1","MPZ","MSX1","MTMR2","MTRFR","MTTP","MUSK","MYBPC1","MYH3","MYH7","MYH8","MYL11","MYL2","MYMK","MYMX","MYO9A","MYPN","MYT1L","NADSYN1","NALCN","NDE1","NDRG1","NEB","NECTIN1","NEDD4L","NEFL","NEK8","NEK9","NELFA","NIPBL","NKAP","NKX3-2","NOTCH1","NR4A2","NSD1","NSD2","NT5C2","ORC1","ORC6","OTUD5","OTUD6B","PAICS","PDHA1","PEX1","PEX2","PEX26","PEX5","PI4KA","PIEZO2","PIGB","PIGG","PIGL","PITX1","PLA2G6","PLEKHG5","PLK4","PLOD1","PLOD2","PLOD3","PLXND1","PMP22","POLR3A","POLR3GL","POLRMT","POR","PPP3CA","PRUNE1","PSAT1","PTEN","PTRH2","PUF60","PYCR1","RAB11B","RAB23","RAB3GAP2","RAD21","RAI1","RBM10","RBM8A","RBPJ","RECQL4","REEP1","REV3L","RINT1","RIPK4","ROBO1","RPGRIP1","RPGRIP1L","RREB1","RSPO2","RUSC2","RYR1","RYR3","SALL1","SALL4","SAMD9","SATB2","SBF2","SC5D","SCARF2","SCN4A","SCYL1","SEC24C","SEC31A","SELENON","SEMA3E","SETBP1","SETD2","SF3B4","SH3PXD2B","SH3TC2","SHROOM4","SKI","SLC25A19","SLC26A2","SLC31A1","SLC35A2","SLC35D1","SLC6A9","SMAD3","SMARCA2","SMARCAL1","SMC1A","SMC3","SMOC1","SMS","SNCA","SNIP1","SNRPN","SNX14","SOX9","SPECC1L","SPEG","SPTBN1","STAC3","STXBP1","SUZ12","SYNE1","SYT1","TAF1","TAF8","TAFAZZIN","TBC1D23","TBX1","TBX15","TBX4","TCTN1","TCTN2","TCTN3","TFE3","TGDS","TGFB2","TGFB3","TGFBR1","TGFBR2","TH","TMCO1","TMEM107","TMEM216","TMEM231","TMEM237","TMEM67","TMTC3","TNNI2","TNNT3","TOR1A","TP63","TPM2","TPM3","TRAIP","TRIM2","TRIP11","TRPM3","TRPS1","TRPV4","TSPOAP1","TTN","TWIST1","TWIST2","TXNDC15","UBE2A","UFD1","UNC80","USP8","VANGL1","VAPB","VIPAS39","VPS33B","VRK1","VWA1","WARS2","WDR73","WNT7A","YME1L1","ZC4H2","ZFYVE27","ZIC3","ZNF148","ZNF699","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_THORACIC_KYPHOSCOLIOSIS":{"collection":"C5:HPO","systematicName":"M36753","pmid":"","exactSource":"HP:0005659","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005659","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THORACIC_KYPHOSCOLIOSIS","geneSymbols":["ADGRG6","AGRN","AK9","CHRNA1","CHRNB1","CHRND","CHRNE","COL13A1","DES","DOK7","IARS2","ITCH","LMNA","LRP4","MUSK","NKX3-2","PCGF2","PLOD1","PYCR2","RAPSN","SCN4A","SOX5","SPRTN","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_JUVENILE_RHEUMATOID_ARTHRITIS":{"collection":"C5:HPO","systematicName":"M36754","pmid":"","exactSource":"HP:0005681","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005681","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_JUVENILE_RHEUMATOID_ARTHRITIS","geneSymbols":["ACP5","DCLRE1C","HLA-DRB1","IL6","LACC1","MIF"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DISTAL_ARTHROGRYPOSIS":{"collection":"C5:HPO","systematicName":"M36755","pmid":"","exactSource":"HP:0005684","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005684","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DISTAL_ARTHROGRYPOSIS","geneSymbols":["ACADM","ADCY6","ADGRG1","ATAD1","CCDC47","CHST14","CNTNAP1","FBN2","FIG4","GLDN","GLI3","LGI4","MED13L","MYBPC1","MYH8","MYO9A","MYOD1","NRCAM","PI4KA","PIEZO2","REEP1","SRPX2","TNNI2","YY1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_JOINT_HYPERFLEXIBILITY":{"collection":"C5:HPO","systematicName":"M36756","pmid":"","exactSource":"HP:0005692","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005692","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_JOINT_HYPERFLEXIBILITY","geneSymbols":["ABCC6","ADAMTS2","ADAMTSL2","ALDH18A1","ANTXR1","ARVCF","ATP7A","ATR","ATRIP","B4GALT7","BAZ1B","BCL7B","BCR","BUD23","C1R","C1S","CANT1","CBL","CCDC8","CDC45","CDC6","CDT1","CENPE","CENPJ","CEP152","CLIP2","COL18A1","COL1A1","COL1A2","COL2A1","COL3A1","COL9A1","COL9A2","COL9A3","COMT","CRKL","CRTAP","CSGALNACT1","CTNND2","CUL4B","CUL7","DNA2","DNAJC30","EED","EFNB1","EIF4H","ELN","ENPP1","EXT1","EZH2","FBN1","FGD1","FGFR3","FKBP6","FLNA","FLNB","GDF5","GMNN","GORAB","GP1BB","GTF2I","GTF2IRD1","GTF2IRD2","HDAC4","HIRA","HNF1B","HOXD13","HRAS","IFT122","IFT43","IFT52","IL6ST","IPO8","JMJD1C","KAT6B","KDM6A","KMT2D","KRAS","LBR","LIG4","LIMK1","LMNA","LONP1","LZTR1","MAPK1","MED12","METTL27","MLXIPL","MRAS","NCF1","NFIX","NOTCH2","NOTCH3","NPR2","NRAS","NSD1","NSUN2","NUP85","OBSL1","OCRL","ORC1","ORC4","ORC6","P4HB","PAK2","PAX2","PCNT","PHF6","PIK3CA","PIK3R1","PLK4","PLOD1","PRDM5","PTCH1","PTDSS1","PTEN","PTHLH","PTPN11","PYCR1","RAD21","RAF1","RASA2","RBBP8","RFC2","RIT1","RMRP","RPS6KA3","RRAS","RRAS2","RREB1","RYR1","SATB2","SEC23A","SEC24C","SEC24D","SEMA5A","SKI","SLC26A2","SLC2A10","SLC6A8","SLC9A6","SMOC1","SOS1","SOS2","SPRED2","STAT3","STX1A","SUZ12","TAB2","TBL2","TBX1","TGDS","TGFB2","TGFBR1","TGFBR2","TMEM270","TNXB","TRAIP","TRIP11","TRPS1","UBE3A","UFD1","UPF3B","USP9X","VPS13B","VPS37A","VPS37D","WASF1","WDR19","WDR35","XYLT1","XYLT2","ZDHHC9","ZNF469"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MULTIPLE_ENCHONDROMATOSIS":{"collection":"C5:HPO","systematicName":"M36757","pmid":"","exactSource":"HP:0005701","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005701","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MULTIPLE_ENCHONDROMATOSIS","geneSymbols":["COL2A1","IDH1","IDH2","MAD1L1","POLR1B","POLR1C","POLR1D","PTH1R","PTPN11","TCOF1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_2_3_TOE_CUTANEOUS_SYNDACTYLY":{"collection":"C5:HPO","systematicName":"M43313","pmid":"","exactSource":"HP:0005709","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005709","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_2_3_TOE_CUTANEOUS_SYNDACTYLY","geneSymbols":["ATP9A","BCOR","CACNA1C","CAMTA1","DEAF1","DHCR7","FGF16","GABRA3","IQCE","MCTP2","MECP2","NECTIN4","PRKD1","RPL10","SCARF2","SMOC1","TP63","TRRAP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LETHAL_SKELETAL_DYSPLASIA":{"collection":"C5:HPO","systematicName":"M36758","pmid":"","exactSource":"HP:0005716","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005716","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LETHAL_SKELETAL_DYSPLASIA","geneSymbols":["COL2A1","DYNC2H1","DYNC2I1","DYNC2I2","IFT80","LBR","PTH1R","SLC26A2","TRIP11","WDR35"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SHORT_TIBIA":{"collection":"C5:HPO","systematicName":"M43314","pmid":"","exactSource":"HP:0005736","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005736","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_TIBIA","geneSymbols":["ALG12","BMPR1B","CEP120","DLK1","DONSON","EIF4A3","FLNB","GDF5","GLI3","GPC6","HYLS1","IHH","INTU","LAMA5","LIFR","LMBR1","MEG3","NEK1","RTL1","SHH","SHOX","SLC31A1","SLC35A2","SMOC1","TCTN3","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_AVASCULAR_NECROSIS_OF_THE_CAPITAL_FEMORAL_EPIPHYSIS":{"collection":"C5:HPO","systematicName":"M36760","pmid":"","exactSource":"HP:0005743","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005743","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AVASCULAR_NECROSIS_OF_THE_CAPITAL_FEMORAL_EPIPHYSIS","geneSymbols":["ADAMTS2","ADAMTSL2","ATP7A","COL1A1","COL1A2","COL2A1","COMP","CREBBP","DVL1","DVL3","EP300","EXT1","FN1","FZD2","INPP5K","MATN3","NEK9","RAB3GAP2","RAD21","SIL1","SKIC3","SLC2A10","SRCAP","TINF2","TONSL","TREX1","TRPS1","TRPV4","UFSP2","UNC45A","WNT5A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LOWER_LIMB_JOINT_CONTRACTURE":{"collection":"C5:HPO","systematicName":"M36761","pmid":"","exactSource":"HP:0005750","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005750","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOWER_LIMB_JOINT_CONTRACTURE","geneSymbols":["ABCC8","ABCC9","ABCD1","ABHD12","ACTA1","ADAT3","ALAD","ALG14","ALG2","ALS2","AMER1","ANKLE2","ANO5","APC2","ATP5F1D","ATP6V1E1","BAG3","BCAS3","BCOR","BICD2","BIN1","BRF1","C18orf32","C19orf12","CAPN3","CAV1","CCN2","CCR6","CFL2","CHRNB1","CHRNG","CNTNAP1","COL12A1","COL25A1","COL2A1","COL6A1","COL6A2","COL6A3","COL7A1","CPT2","CRPPA","DAG1","DDHD2","DDR2","DHX16","DMD","DPAGT1","DPM1","DSP","DYRK1A","EIF5A","EMD","ERCC1","ERCC4","ERCC6","ERCC8","ERGIC1","ERLIN1","ERLIN2","ESCO2","F8","FBN1","FBN2","FDFT1","FGFR3","FHL1","FIG4","FKBP10","FKRP","FKTN","FLNA","FUS","GARS1","GCK","GFM2","GFPT1","GJB1","GJB2","GJB6","GLI3","GMPPB","GNB2","GNPTAB","GNS","HACD1","HINT1","HLA-DRB1","HRAS","HS2ST1","HSPG2","IL6ST","INS","IPO8","IRF5","ITGA7","JAG2","JUP","KAT6B","KCNJ11","KCNK9","KIAA0319L","KLHL9","KY","LARGE1","LBR","LGI4","LIFR","LMBRD2","LMNA","LMX1B","MAP3K20","MAP3K7","MARS1","MEGF10","MEGF8","MMP1","MMP2","MT-TE","MUSK","MYBPC1","MYH3","MYL1","MYL11","MYL2","MYO9A","MYOT","NALCN","NEB","NEDD4L","NFATC2","NGLY1","NOD2","NSD1","NSUN2","NT5C2","OPA1","ORAI1","P4HTM","PDX1","PHF6","PI4KA","PIEZO2","PIGA","PIGN","PIGY","PIK3R2","PLEC","PLOD2","PNPT1","POMT1","PPP2R5D","PRG4","PSAT1","PSMB8","PSTPIP1","PTDSS1","PTH1R","PTRH2","PYROXD1","REEP1","RMRP","RNU4ATAC","RPL10","RTTN","RYR1","SCARF2","SCN4A","SCYL2","SDHA","SDHAF1","SDHB","SDHD","SELENON","SETD2","SGCA","SGCG","SIGMAR1","SIK3","SLC10A7","SLC12A6","SLC18A3","SLC1A4","SLC25A19","SLC25A4","SLC25A46","SLC26A2","SLC29A3","SLC39A14","SLC39A8","SLC6A9","SNAP25","SPEG","SPG11","SPTBN4","SPTLC1","SRD5A3","STAT3","SVIL","SYNE1","SYNE2","SYT2","TBC1D2B","TELO2","TGFB3","TMEM43","TNNT1","TOR1AIP1","TPM2","TPM3","TRIM2","TRPV4","TTN","UBA1","UFC1","UNC80","VARS1","WDR26","ZBTB20","ZC4H2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BASILAR_IMPRESSION":{"collection":"C5:HPO","systematicName":"M36762","pmid":"","exactSource":"HP:0005758","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005758","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BASILAR_IMPRESSION","geneSymbols":["COL1A1","COL1A2","DKK1","NOTCH2","ZBTB20"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APLASIA_HYPOPLASIA_OF_THE_TIBIA":{"collection":"C5:HPO","systematicName":"M36763","pmid":"","exactSource":"HP:0005772","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005772","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_TIBIA","geneSymbols":["ALG12","ATP7A","BHLHA9","BMPR1B","CEP120","CHD7","DLK1","DONSON","DYNC2H1","EIF4A3","FLNB","GDF5","GLI3","GPC6","HYLS1","IHH","INTU","LAMA5","LIFR","LMBR1","MEG3","NEK1","PITX1","RTL1","SHH","SHOX","SLC31A1","SLC35A2","SMOC1","TCTN3","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_GENERALIZED_OSTEOSCLEROSIS":{"collection":"C5:HPO","systematicName":"M36764","pmid":"","exactSource":"HP:0005789","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005789","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENERALIZED_OSTEOSCLEROSIS","geneSymbols":["CLCN7","CTSK","DHCR24","LRP5","PHEX","PLEKHM1","PTH1R","SOST","TCIRG1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CORTICAL_THICKENING_OF_LONG_BONE_DIAPHYSES":{"collection":"C5:HPO","systematicName":"M36765","pmid":"","exactSource":"HP:0005791","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005791","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CORTICAL_THICKENING_OF_LONG_BONE_DIAPHYSES","geneSymbols":["COL1A1","FAM111A","MAN2B1","TBCE","TGFB1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABSENT_DISTAL_PHALANGES":{"collection":"C5:HPO","systematicName":"M43316","pmid":"","exactSource":"HP:0005807","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005807","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_DISTAL_PHALANGES","geneSymbols":["CHUK","DOCK6","KCNN3","LBR","NOG","SLC25A24","TGFBR2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MULTIPLE_PRENATAL_FRACTURES":{"collection":"C5:HPO","systematicName":"M36767","pmid":"","exactSource":"HP:0005855","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005855","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MULTIPLE_PRENATAL_FRACTURES","geneSymbols":["ACTA1","ASCC1","CCDC134","COL1A1","COL1A2","CRTAP","KLHL40","KLHL41","LBR","LMOD3","MBTPS2","MESD","NEB","P3H1","PPIB","TAPT1","TPM3","TRIP4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_TYPE_E_BRACHYDACTYLY":{"collection":"C5:HPO","systematicName":"M47107","pmid":"","exactSource":"HP:0005863","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005863","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TYPE_E_BRACHYDACTYLY","geneSymbols":["COL2A1","HDAC4","HOXD13","PDE3A","PTHLH"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PSEUDOARTHROSIS":{"collection":"C5:HPO","systematicName":"M36768","pmid":"","exactSource":"HP:0005864","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005864","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PSEUDOARTHROSIS","geneSymbols":["CBFB","CCDC134","EFNB1","FGFR1","MET","MYF5","NF1","WNT7A","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_METAPHYSEAL_CHONDRODYSPLASIA":{"collection":"C5:HPO","systematicName":"M36769","pmid":"","exactSource":"HP:0005871","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005871","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_METAPHYSEAL_CHONDRODYSPLASIA","geneSymbols":["AIFM1","ALG3","COL10A1","CWC27","DNAJC21","EFL1","FGFR3","GPX4","HDAC6","MMP13","PTH1R","RMRP","SBDS","SRP54"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PROGRESSIVE_FLEXION_CONTRACTURES":{"collection":"C5:HPO","systematicName":"M36770","pmid":"","exactSource":"HP:0005876","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005876","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROGRESSIVE_FLEXION_CONTRACTURES","geneSymbols":["ANTXR2","ESCO2","GCH1","IMPDH2","MED12","NR4A2","SYT1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CONGENITAL_FINGER_FLEXION_CONTRACTURES":{"collection":"C5:HPO","systematicName":"M36771","pmid":"","exactSource":"HP:0005879","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005879","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONGENITAL_FINGER_FLEXION_CONTRACTURES","geneSymbols":["ADAT3","CAPN3","COL12A1","FBN2","KCNK9","MORC2","PIEZO2","PRG4","SCN4A","TGFB3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CERVICAL_CURVATURE":{"collection":"C5:HPO","systematicName":"M36772","pmid":"","exactSource":"HP:0005905","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005905","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CERVICAL_CURVATURE","geneSymbols":["ARSL","CHRNA1","CHRND","CHRNG","CHST14","DSE","FLNB","GZF1","HSPG2","RIPPLY2","SLC26A2","SOX9"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BILIARY_ATRESIA":{"collection":"C5:HPO","systematicName":"M36773","pmid":"","exactSource":"HP:0005912","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005912","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BILIARY_ATRESIA","geneSymbols":["CC2D2A","CLDN1","ERCC4","GATA6","INPP5E","LONP1","RFX6","RPGRIP1L","TCTN3","TMEM67","VPS33B","ZIC3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_METACARPAL_EPIPHYSIS_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M36774","pmid":"","exactSource":"HP:0005913","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005913","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_METACARPAL_EPIPHYSIS_MORPHOLOGY","geneSymbols":["BGN","BPNT2","COG4","COL9A1","COL9A2","COL9A3","CPLX1","CTBP1","FGFRL1","GPX4","IHH","LETM1","NPR3","NSD2","PCNT","POR","RPS6KA3","SALL1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APLASIA_HYPOPLASIA_INVOLVING_THE_METACARPAL_BONES":{"collection":"C5:HPO","systematicName":"M36775","pmid":"","exactSource":"HP:0005914","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005914","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_INVOLVING_THE_METACARPAL_BONES","geneSymbols":["ACVR1","ADAMTSL2","ANAPC1","ASXL2","B3GALT6","B3GLCT","BGN","BMP2","BMPR1B","BPNT2","BRD4","CANT1","CD96","CHST3","CHSY1","COG4","COL11A2","COL2A1","COL9A3","COMP","CWC27","DCHS1","DDR2","DLK1","DNMT3A","DONSON","DYM","EIF4A3","EXT1","EXT2","EXTL3","FANCD2","FANCI","FAT4","FBN1","FBXL3","FERMT1","FGF16","FGFR1","FIG4","FLNA","FLNB","FZD2","GDF5","GLI3","GNAS","GNAS-AS1","GPX4","HDAC4","HDAC8","HHAT","HOXA13","HOXD13","IFT52","IFT80","IHH","INPPL1","KCNJ2","KNSTRN","LAMA5","LBR","LMBR1","LONP1","LTBP3","MAP3K7","MATN3","MEG3","MYSM1","NEPRO","NHS","NIPBL","NOG","NPR2","P3H1","PCNT","PCYT1A","PDE3A","PDE4D","PEX7","PHYH","PIGS","PIK3CD","PLXND1","POC1A","POR","PORCN","PRKAR1A","PRKG2","PRMT7","PTCH1","PTH1R","PTHLH","RAB33B","RAB3GAP2","RAD21","RECQL4","REV3L","RIPK4","RMRP","RNU4ATAC","ROBO1","ROR2","RPS6KA3","RSPRY1","RTL1","RUNX2","SALL4","SETBP1","SHH","SHOX","SIL1","SLC26A2","SLC39A13","SMARCA2","SMC1A","SMC3","SOX9","SRCAP","SRY","STX16","SVBP","TBX3","TGDS","TP63","TRIO","TRIP11","TRPS1","TWIST2","VAC14","VPS13B","VPS35L","WNT7A","XRCC2","XYLT1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_METACARPAL_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M36776","pmid":"","exactSource":"HP:0005916","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005916","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_METACARPAL_MORPHOLOGY","geneSymbols":["ACVR1","ADAMTS10","ADAMTSL2","AKT1","ANAPC1","ANKRD55","APC","ARHGAP31","ASXL1","ASXL2","B3GALT6","B3GAT3","B3GLCT","BGN","BHLHA9","BMP2","BMP6","BMPR1B","BPNT2","BRD4","CANT1","CD247","CD96","CHST3","CHSY1","CLCN7","COG4","COL11A2","COL2A1","COL3A1","COL9A1","COL9A2","COL9A3","COMP","CPLANE1","CPLX1","CSPP1","CTBP1","CWC27","DCHS1","DDR2","DHCR7","DLK1","DLL4","DNMT3A","DOCK6","DONSON","DYM","EIF4A3","EOGT","ESCO2","EXT1","EXT2","EXTL3","FAM149B1","FANCD2","FANCI","FAT4","FBLN1","FBN1","FBXL3","FERMT1","FGF16","FGF9","FGFR1","FGFR3","FGFRL1","FIG4","FLNA","FLNB","FMR1","FZD2","GALNS","GDF5","GJB6","GLB1","GLI3","GNAS","GNAS-AS1","GPX4","GUSB","HDAC4","HDAC8","HFE","HHAT","HOXA13","HOXD13","IFIH1","IFT140","IFT27","IFT52","IFT80","IHH","IL2RA","IL2RB","INPP5K","INPPL1","INTU","KCNJ2","KIAA0586","KIAA0753","KIF22","KIF7","KL","KNSTRN","LAMA5","LBR","LETM1","LMBR1","LONP1","LRP4","LRP5","LTBP3","MAFB","MAP3K7","MATN3","MEG3","MKKS","MMP14","MMP2","MYL11","MYSM1","NEK1","NEPRO","NFIX","NHS","NIPBL","NOG","NONO","NOTCH1","NPR2","NPR3","NSD1","NSD2","OFD1","P3H1","PCNT","PCYT1A","PDE3A","PDE4D","PDE6D","PEX7","PHYH","PIGS","PIK3CD","PLXND1","POC1A","POR","PORCN","PQBP1","PRG4","PRKAR1A","PRKG2","PRMT7","PTCH1","PTDSS1","PTEN","PTH1R","PTHLH","PTPN2","PTPN22","RAB33B","RAB3GAP2","RAD21","RBPJ","RECQL4","REV3L","RIPK4","RMRP","RNF13","RNU4ATAC","ROBO1","ROR2","RPS6KA3","RSPRY1","RTL1","RUNX2","SALL1","SALL4","SCARF2","SETBP1","SH3PXD2B","SHH","SHOX","SIL1","SLC25A24","SLC26A2","SLC39A13","SMARCA2","SMC1A","SMC3","SMOC1","SOX9","SPARC","SRCAP","SRY","STAT4","STX16","SVBP","TBX3","TBX5","TCF12","TCTN3","TFE3","TGDS","TMEM216","TOPORS","TP63","TRIO","TRIP11","TRPS1","TWIST1","TWIST2","VAC14","VPS13B","VPS35L","WNT7A","XRCC2","XYLT1","ZIC1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_FINGER_PHALANX_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M36777","pmid":"","exactSource":"HP:0005918","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005918","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FINGER_PHALANX_MORPHOLOGY","geneSymbols":["ABCA12","ABCC9","ACAN","ACOX1","ACP5","ACTB","ACTG1","ACTG2","ACTL6B","ACVR1","ADA2","ADAMTS10","ADAMTS2","ADAMTS3","ADAMTSL2","ADAT3","ADNP","AEBP1","AHI1","AKT3","ALG6","ALX1","ALX3","ALX4","AMMECR1","ANAPC1","ANTXR2","APC2","ARHGAP31","ARID1A","ARID1B","ARL13B","ARL3","ARL6","ARMC9","ARPC4","ARSL","ARVCF","ASAH1","ASPN","ASXL3","ATL3","ATP6V1B2","ATR","B3GALT6","B3GAT3","B4GALT7","B9D1","B9D2","BANF1","BBIP1","BBS1","BBS10","BBS12","BBS2","BBS4","BBS5","BBS7","BBS9","BCOR","BCR","BGN","BHLHA9","BICRA","BLM","BMP2","BMP4","BMPR1A","BMPR1B","BPTF","BRD4","BRF1","C2CD3","CANT1","CAPN3","CASZ1","CBFB","CBY1","CC2D2A","CCBE1","CCDC22","CCDC28B","CCN6","CCND2","CD244","CD96","CDC45","CDC6","CDH11","CDKL5","CDT1","CEP104","CEP120","CEP152","CEP19","CEP290","CEP41","CFAP418","CFTR","CHD7","CHN1","CHRNG","CHST11","CHST3","CHSY1","CHUK","CIBAR1","CIITA","CLCF1","CLCN7","CNOT1","COG4","COG5","COL10A1","COL11A1","COL11A2","COL12A1","COL1A1","COL2A1","COL3A1","COL5A1","COL5A2","COL6A1","COL6A2","COL6A3","COMP","COMT","CPLANE1","CPLX1","CREBBP","CRIPT","CRKL","CRLF1","CSGALNACT1","CSPP1","CTBP1","CTDP1","CTSC","CTSK","CUL4B","CWC27","DACT1","DDR2","DDX59","DEAF1","DHCR7","DHODH","DHX30","DLK1","DLL3","DLL4","DNM1L","DNMT3A","DOCK6","DOK7","DPYS","DPYSL5","DSP","DVL1","DVL3","DYM","DYNC2H1","DYNC2I1","DYNC2I2","DYNC2LI1","DYNLT2B","EBP","EDA","EDA2R","EED","EFNB1","EFTUD2","EIF2AK3","EIF4A3","EMG1","EOGT","EP300","ERCC1","ERCC2","ERCC5","ERCC6","ERCC8","ESCO2","EVC","EVC2","EXOSC2","EXT1","EXTL3","EZH2","FAM149B1","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCI","FAT4","FBN1","FBN2","FBXO28","FERMT1","FGD1","FGF10","FGF9","FGFR1","FGFR2","FGFR3","FGFRL1","FIG4","FKTN","FLI1","FLII","FLNA","FLNB","FN1","FRAS1","FTO","FTSJ1","FZD2","G6PC3","GABRD","GATA1","GATA4","GATAD2B","GDAP1","GDF5","GGCX","GJA1","GJA5","GJA8","GLI1","GLI2","GLI3","GMNN","GNAS","GNB2","GNPTAB","GON7","GP1BB","GPC3","GPC4","GPKOW","GPX4","H3-3A","H3-3B","H4C9","HDAC4","HDAC8","HEATR3","HEPACAM","HES7","HESX1","HHAT","HINT1","HIRA","HNRNPR","HOXA13","HOXD13","HPGD","HS2ST1","HSPG2","HYLS1","IARS1","IDH1","IDS","IDUA","IFIH1","IFT122","IFT140","IFT172","IFT27","IFT43","IFT52","IFT57","IFT74","IFT80","IGF2","IGHMBP2","IHH","IKBKG","IL10","IL11RA","IL6ST","INPP5E","INPPL1","INTU","IPO8","IQCE","IQSEC2","JAG1","JMJD1C","KAT6A","KAT6B","KATNIP","KCNAB2","KCNH1","KCNJ2","KCNJ8","KCNK9","KCNN3","KCTD1","KDM5B","KDM5C","KDM6A","KIAA0586","KIAA0753","KIAA0825","KIF15","KIF1A","KIF21A","KIF22","KIF7","KMT2A","KMT2D","KNSTRN","KRT14","L1CAM","LAGE3","LAMA5","LAMB3","LBR","LEMD3","LETM1","LFNG","LHX3","LHX4","LIFR","LIG4","LMBR1","LMNA","LONP1","LRP4","LUZP1","LZTFL1","MACROH2A1","MAFB","MAN2C1","MAP3K20","MAP3K7","MAPK1","MATN3","MBD5","MBTPS2","MCTP2","MECOM","MED12","MED25","MEG3","MEGF10","MEGF8","MEIS2","MESP2","MGP","MIA3","MIR17HG","MKKS","MKS1","MMP2","MMP23B","MORC2","MRPS28","MSX2","MTOR","MTX2","MUSK","MYBPC1","MYCN","MYH3","MYH8","MYL11","MYOD1","NAA10","NALCN","NEDD4L","NEK1","NELFA","NEPRO","NFIX","NFKBIL1","NGLY1","NHS","NIN","NIPBL","NLRP3","NOD2","NOG","NONO","NOTCH1","NOTCH2","NPHP1","NPR2","NPR3","NSD1","NSD2","NSDHL","NSUN2","NUP107","NUP133","NUP88","NXN","OCRL","OFD1","ORC1","ORC4","ORC6","OSGEP","OTUD5","OTUD6B","PACS1","PAH","PAX3","PCDHGC4","PCGF2","PCNT","PCYT1A","PDE3A","PDE4D","PDE6D","PDGFRB","PDPN","PEX1","PEX6","PGAP2","PGAP3","PHF6","PHF8","PIBF1","PIEZO2","PIGB","PIGF","PIGG","PIGL","PIGN","PIGO","PIGS","PIGV","PIGW","PIGY","PIK3CA","PIK3CD","PIK3R2","PITX1","PLAA","PLOD3","PNPLA6","POC1A","POGZ","POLA1","POLR3A","POLR3GL","POR","PORCN","POU1F1","PPP2R3C","PQBP1","PRDM16","PRG4","PRKACA","PRKACB","PRKAR1A","PRKCZ","PRKD1","PRKG2","PRMT7","PROP1","PSMB8","PSMD12","PTCH1","PTDSS1","PTEN","PTH1R","PTHLH","PTPN22","PUF60","PYCR2","RAB23","RAB33B","RAB3GAP1","RAB3GAP2","RAD21","RAI1","RAPSN","RBBP8","RBM10","RBM8A","RBPJ","RECQL4","RERE","RETREG1","RIGI","RIPK4","RIPPLY2","RLIM","RMRP","RNU4ATAC","ROBO1","ROR2","RPGRIP1","RPGRIP1L","RPL10","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS6KA3","RPS7","RREB1","RTL1","RTTN","RUNX2","SALL1","SALL4","SATB2","SC5D","SCAPER","SCARF2","SCLT1","SCN4A","SCN9A","SCNM1","SDCCAG8","SEC24C","SETBP1","SETD2","SETD5","SF3B2","SH2B1","SH3PXD2B","SHH","SHMT2","SIAH1","SKI","SLC18A3","SLC22A4","SLC25A24","SLC26A2","SLC29A3","SLC35A2","SLC35A3","SLC39A13","SMAD3","SMARCA2","SMARCA4","SMARCAD1","SMARCB1","SMARCE1","SMC1A","SMC3","SMG9","SMO","SMOC1","SNIP1","SOST","SOX11","SOX9","SPEN","SPTBN1","SRCAP","STAMBP","SUFU","SUMF1","SUZ12","TBC1D24","TBC1D2B","TBR1","TBX1","TBX2","TBX3","TBX5","TCTN1","TCTN2","TCTN3","TDO2","TFAP2A","TFAP2B","TGDS","TGFB3","TGFBR1","TGFBR2","TLK2","TMCO1","TMEM107","TMEM138","TMEM216","TMEM218","TMEM231","TMEM237","TMEM67","TMEM70","TNNI2","TNNT3","TOGARAM1","TONSL","TOPORS","TOR1AIP1","TP53RK","TP63","TPM2","TPRKB","TRAPPC2","TRIM32","TRIO","TRIP11","TRPM3","TRPS1","TRPV4","TSR2","TTC21B","TTC26","TTC8","TUBA1A","TUBB3","TWIST1","TWIST2","TXNDC15","UBE2T","UBE4B","UFD1","UNC80","UPF3B","USP9X","VAC14","VPS35L","WASHC5","WDPCP","WDR19","WDR35","WDR4","WDR73","WFS1","WLS","WNK1","WNT5A","WNT7A","XRCC2","XYLT1","YRDC","ZBTB20","ZDHHC9","ZIC3","ZMPSTE24","ZNF141","ZNF407","ZNF423","ZNF668","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_EPIPHYSIS_MORPHOLOGY_OF_THE_PHALANGES_OF_THE_HAND":{"collection":"C5:HPO","systematicName":"M36778","pmid":"","exactSource":"HP:0005920","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005920","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_EPIPHYSIS_MORPHOLOGY_OF_THE_PHALANGES_OF_THE_HAND","geneSymbols":["ARSL","ATR","BGN","BMPR1B","COG4","COL2A1","COMP","DYM","EIF2AK3","ERCC6","ERCC8","EVC","EVC2","EXT1","FGFR3","FLNA","GDF5","GPX4","IFT140","IFT172","IFT52","IHH","KCNH1","KIF15","MGP","MIA3","MRPS28","NEK1","NPR2","NPR3","PRKAR1A","RAB23","RAD21","RMRP","RUNX2","SRCAP","TONSL","TRAPPC2","TRIP11","TRPS1","TRPV4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_HAND_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M36779","pmid":"","exactSource":"HP:0005922","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005922","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_HAND_MORPHOLOGY","geneSymbols":["ABCA12","ABCC6","ABCC8","ABCC9","ABL1","ACAN","ACOX1","ACP5","ACTB","ACTG1","ACTL6B","ACVR1","ADA2","ADAMTS10","ADAMTSL2","ADGRG6","ADNP","AFF2","AFF4","AGO2","AGPAT2","AHI1","AHSG","AIFM1","AIP","AKT1","AKT3","ALDH18A1","ALDH1A2","ALG12","ALG13","ALG6","ALG9","ALMS1","ALOX12B","ALOXE3","ALX1","ALX3","AMER1","AMMECR1","ANAPC1","ANKRD11","ANKRD55","ANTXR2","AP1G1","APC","APC2","ARCN1","ARHGAP31","ARID1A","ARID1B","ARID2","ARL13B","ARL3","ARL6","ARMC9","ARSB","ARSL","ARVCF","ARX","ASAH1","ASNS","ASPH","ASXL1","ASXL2","ASXL3","ATG7","ATL1","ATL3","ATN1","ATP2B1","ATP6V1B2","ATP6V1E1","ATP7A","ATR","ATRIP","ATRX","AUTS2","B3GALT6","B3GAT3","B3GLCT","B9D1","B9D2","BANF1","BAP1","BAZ1B","BBIP1","BBS1","BBS10","BBS12","BBS2","BBS4","BBS5","BBS7","BBS9","BCL7B","BCOR","BCR","BGN","BHLHA9","BICD2","BICRA","BLM","BLTP1","BMP2","BMP4","BMP6","BMPR1B","BPNT2","BPTF","BRAF","BRAT1","BRCA1","BRCA2","BRD4","BRF1","BRIP1","BSCL2","BTRC","BUB1","BUB1B","BUB3","BUD23","C2CD3","CACNA2D1","CAMK2G","CAMTA1","CANT1","CASK","CASZ1","CAV1","CAVIN1","CBFB","CBL","CBY1","CC2D2A","CCBE1","CCDC22","CCDC28B","CCDC32","CCDC47","CCDC8","CCND2","CCNK","CCNQ","CD247","CD96","CDC42","CDC42BPB","CDC45","CDC6","CDH11","CDH3","CDK10","CDK5","CDKL5","CDKN1C","CDT1","CENPE","CENPJ","CEP104","CEP120","CEP152","CEP19","CEP290","CEP41","CEP55","CEP57","CFAP418","CHD7","CHN1","CHRNA1","CHRNA7","CHRND","CHRNG","CHST11","CHST3","CHSY1","CHUK","CIBAR1","CILK1","CITED2","CKAP2L","CLCN3","CLCN7","CLIP2","CNOT1","CNOT2","CNOT3","CNTN1","CNTNAP1","COASY","COG1","COG4","COG5","COG7","COG8","COL10A1","COL11A1","COL11A2","COL17A1","COL25A1","COL27A1","COL2A1","COL3A1","COL7A1","COL9A1","COL9A2","COL9A3","COMP","COMT","COX4I1","CPLANE1","CPLX1","CREBBP","CRIPT","CRKL","CRLF1","CSGALNACT1","CSNK2A1","CSPP1","CTBP1","CTCF","CTDP1","CTNND2","CTSC","CTSD","CTSK","CTU2","CUL3","CUL4B","CUL7","CWC27","DACT1","DCHS1","DDR2","DDX11","DDX59","DEAF1","DHCR7","DHODH","DHPS","DLK1","DLL4","DLX3","DLX5","DLX6","DMXL2","DNA2","DNAJC30","DNMT3A","DOCK6","DOK7","DONSON","DPAGT1","DPF2","DPH1","DPH2","DPM1","DPYSL5","DSP","DST","DVL1","DVL3","DYM","DYNC1H1","DYNC2H1","DYNC2I1","DYNC2I2","DYNC2LI1","DYNLT2B","EBP","EDA","EDA2R","EED","EFNB1","EFTUD2","EGR2","EIF2AK3","EIF4A3","EIF4H","ELN","EMG1","EN1","ENPP1","EOGT","EP300","EPB41L1","EPS15L1","ERCC4","ERCC6","ERCC8","ESCO2","EVC","EVC2","EXOC6B","EXT1","EXT2","EXTL3","EZH2","FAM149B1","FAM50A","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FAT4","FBLN1","FBN1","FBN2","FBXL3","FBXO11","FBXO28","FBXW4","FERMT1","FGD1","FGF10","FGF16","FGF9","FGFR1","FGFR2","FGFR3","FGFRL1","FIBP","FIG4","FKBP6","FLI1","FLII","FLNA","FLNB","FLT4","FMR1","FN1","FOS","FOXP2","FRA10AC1","FRAS1","FTSJ1","FZD2","GABBR2","GABRD","GALNS","GALNT2","GAN","GATA1","GATA4","GATA5","GATA6","GDAP1","GDF1","GDF5","GGCX","GJA1","GJA5","GJA8","GJB2","GJB6","GLB1","GLE1","GLI1","GLI2","GLI3","GMNN","GNAO1","GNAS","GNAS-AS1","GNB1","GNB2","GNPTAB","GP1BB","GPC3","GPC4","GPR101","GPX4","GRB10","GRIK2","GRIN1","GRM7","GTF2I","GTF2IRD1","GTF2IRD2","GTPBP2","GUSB","H19","H3-3B","H4C3","HDAC4","HDAC6","HDAC8","HEATR3","HEPACAM","HERC1","HERC2","HESX1","HFE","HHAT","HIC1","HINT1","HIRA","HMGA2","HNRNPA1","HNRNPH1","HNRNPK","HNRNPR","HOXA11","HOXA13","HOXD13","HPGD","HRAS","HSD17B4","HSPB1","HSPG2","HTT","HUWE1","HYLS1","IDH1","IDS","IFIH1","IFT122","IFT140","IFT172","IFT27","IFT43","IFT52","IFT57","IFT74","IFT80","IGF1","IGF1R","IGF2","IHH","IKBKG","IL2RA","IL2RB","INPP5E","INPP5K","INPPL1","INSR","INTU","IQCE","IQSEC2","IRF6","IRX5","ITGB4","ITGB6","JAG1","JMJD1C","JPH1","JUP","KAT6B","KAT8","KATNIP","KCNA1","KCNAB2","KCNH1","KCNJ11","KCNJ2","KCNJ5","KCNJ8","KCNK4","KCNN3","KCTD1","KDM1A","KDM4B","KDM5C","KDM6A","KDM6B","KDR","KIAA0586","KIAA0753","KIAA0825","KIDINS220","KIF15","KIF1A","KIF21A","KIF22","KIF5C","KIF7","KIFBP","KIT","KL","KLF13","KLHL15","KMT2A","KMT2B","KMT2D","KNSTRN","KPTN","KRAS","KRT1","KRT5","L1CAM","LAMA3","LAMA5","LAMB3","LAMC2","LAS1L","LBR","LEMD3","LETM1","LHX3","LHX4","LIFR","LIG4","LIMK1","LMBR1","LMNA","LMNB2","LMX1B","LONP1","LRP4","LRP5","LSS","LTBP1","LTBP2","LTBP3","LUZP1","LZTFL1","LZTR1","MACROH2A1","MAD2L2","MADD","MAF","MAFB","MAGEL2","MAN1B1","MAN2C1","MAP1B","MAP2K1","MAP3K20","MAP3K7","MAPK1","MAPK8IP3","MAPRE2","MAPT","MASP1","MATN3","MBD5","MBTPS1","MBTPS2","MCM3AP","MCTP2","MECOM","MECP2","MED12","MED25","MEF2C","MEG3","MEGF8","MEIS2","MEN1","METTL27","MGAT2","MGP","MIA3","MIR140","MIR17HG","MITF","MKKS","MKRN3","MKS1","MLXIPL","MMP1","MMP14","MMP2","MMP23B","MOGS","MORC2","MPV17","MPZ","MRAS","MRPS28","MSL3","MTFMT","MTOR","MTX2","MUSK","MYBPC1","MYCN","MYH3","MYL11","MYMK","MYMX","MYOD1","MYSM1","NAA10","NAA20","NALCN","NANS","NARS2","NCF1","NDN","NDRG1","NEB","NEDD4L","NEFL","NEK1","NEK9","NELFA","NEPRO","NEUROD2","NEXMIF","NF1","NFIX","NGLY1","NHS","NIN","NIPBL","NKX2-5","NKX2-6","NKX3-2","NOG","NONO","NOTCH1","NOTCH2","NPAP1","NPHP1","NPR2","NPR3","NRAS","NSD1","NSD2","NSDHL","NSUN2","NTNG1","NTRK1","NUP107","NUP37","NUP85","NXN","OBSL1","OCA2","ODC1","OFD1","OGT","OPA3","ORC1","ORC4","ORC6","OTUD5","P3H1","PACS1","PACS2","PAFAH1B1","PAH","PAICS","PALB2","PAX3","PCDHGC4","PCGF2","PCNT","PCYT1A","PDE3A","PDE4D","PDE6D","PDGFRB","PDPN","PEX1","PEX6","PEX7","PGAP2","PGAP3","PHF21A","PHF6","PHF8","PHGDH","PHIP","PHOX2A","PHYH","PI4KA","PIBF1","PIEZO2","PIGB","PIGF","PIGG","PIGH","PIGL","PIGN","PIGO","PIGP","PIGQ","PIGS","PIGV","PIGW","PIGY","PIK3C2A","PIK3CA","PIK3CD","PIK3R1","PIK3R2","PITX1","PKDCC","PLAA","PLAG1","PLK4","PLOD3","PLXND1","PMP22","PNKP","PNPLA6","POC1A","POLA1","POLR3A","POR","PORCN","POU1F1","PPARG","PPM1D","PPP1R21","PPP2R1A","PPP2R3C","PQBP1","PRDM16","PRG4","PRIM1","PRKACA","PRKACB","PRKAR1A","PRKCZ","PRKDC","PRKG2","PRMT7","PROP1","PRR12","PRX","PSMD12","PTCH1","PTDSS1","PTEN","PTF1A","PTH1R","PTHLH","PTPN11","PTPN2","PTPN22","PTRH2","PUF60","PUM1","PWAR1","PWRN1","QRICH1","RAB11B","RAB18","RAB23","RAB33B","RAB3GAP1","RAB3GAP2","RAC1","RAD21","RAD51","RAD51C","RAF1","RAI1","RASA2","RB1","RBBP8","RBM10","RBM28","RBM8A","RBPJ","RECQL","RECQL4","RERE","RETREG1","REV3L","RFC2","RFWD3","RIGI","RIPK4","RIT1","RMRP","RNF13","RNF2","RNF216","RNU4ATAC","ROBO1","ROR2","RPGRIP1","RPGRIP1L","RPL10","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS6KA3","RPS7","RRAS","RRAS2","RREB1","RSPO2","RSPRY1","RTL1","RUNX2","RYR3","SALL1","SALL4","SAMD9","SATB1","SATB2","SBF2","SC5D","SCAPER","SCARF2","SCLT1","SCN1B","SCN2A","SCN9A","SCNM1","SCUBE3","SCYL2","SDCCAG8","SDHB","SDHC","SEC24C","SEM1","SEMA3E","SEMA5A","SETBP1","SETD2","SF3B2","SF3B4","SH2B1","SH3PXD2B","SHANK3","SHH","SHMT2","SHOX","SIAH1","SIK1","SIK3","SIL1","SIM1","SIN3A","SKI","SLC10A7","SLC25A22","SLC25A24","SLC26A2","SLC2A10","SLC32A1","SLC34A2","SLC35B2","SLC35D1","SLC39A13","SLC52A2","SLC6A17","SLC6A9","SLC9A7","SLCO2A1","SLX4","SMAD4","SMARCA2","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SMC1A","SMC3","SMG9","SMO","SMOC1","SNIP1","SNORD115-1","SNORD116-1","SNRPB","SNRPN","SON","SOS1","SOS2","SOST","SOX11","SOX4","SOX6","SOX9","SPARC","SPART","SPECC1L","SPEN","SPOP","SPRED1","SPRED2","SPTLC2","SRCAP","SRY","STAG1","STAG2","STAMBP","STAT4","STX16","STX1A","SUFU","SUZ12","SVBP","SYNE1","TBC1D24","TBCE","TBL1XR1","TBL2","TBR1","TBX1","TBX15","TBX22","TBX3","TBX4","TBX5","TCF12","TCF20","TCF4","TCTN1","TCTN2","TCTN3","TELO2","TFAP2A","TFAP2B","TFE3","TGDS","TGFBR1","TGM1","TMCO1","TMEM107","TMEM138","TMEM147","TMEM216","TMEM218","TMEM231","TMEM237","TMEM270","TMEM53","TMEM67","TMEM94","TNNI2","TNNT3","TOGARAM1","TONSL","TOPORS","TOR1A","TP63","TPM2","TPR","TRAIP","TRAPPC2","TRAPPC9","TREX1","TRIM32","TRIM8","TRIO","TRIP11","TRIP13","TRPM3","TRPS1","TRPV3","TRPV4","TRRAP","TSR2","TTC21B","TTC8","TUBA1A","TUBB2B","TUBB3","TWIST1","TWIST2","TXNDC15","UBA2","UBE2T","UBE3A","UBE3B","UBE4B","UBR1","UFD1","UFSP2","UNC80","USP7","USP9X","VAC14","VPS13B","VPS33B","VPS35L","VPS37D","WAC","WASHC5","WDPCP","WDR11","WDR19","WDR35","WDR4","WDR73","WDR81","WIPI2","WNK1","WNT10B","WNT5A","WNT7A","WRN","WWOX","XRCC2","XRCC4","XYLT1","YWHAE","YY1AP1","ZBTB20","ZC4H2","ZEB2","ZFPM2","ZIC1","ZIC3","ZMIZ1","ZMPSTE24","ZMYM2","ZNF141","ZNF292","ZNF423","ZNF462","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_EPIPHYSIS_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M36780","pmid":"","exactSource":"HP:0005930","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005930","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_EPIPHYSIS_MORPHOLOGY","geneSymbols":["ACAN","ADAMTS2","ADAMTSL2","AGPS","AIFM1","ARSB","ARSL","ATP7A","ATR","ATRIP","B3GALT6","BGN","BMPR1B","BPNT2","BRF1","CANT1","CCN6","CDC42BPB","CDC45","CDC6","CDKN1C","CDT1","CENPE","CENPJ","CEP120","CEP152","CEP164","CEP290","CHST3","CKAP2L","CLCN5","CLCN7","COG1","COG4","COL10A1","COL11A1","COL11A2","COL1A1","COL1A2","COL2A1","COL9A1","COL9A2","COL9A3","COMP","CPLX1","CREBBP","CSPP1","CTBP1","CYP19A1","CYP27B1","CYP2R1","DDR2","DDRGK1","DHCR7","DLK1","DNA2","DNAJC21","DPYD","DUOX2","DUOXA2","DVL1","DVL3","DYM","DYNC2H1","DYNC2I1","DYNC2I2","DYNC2LI1","EBP","EFL1","EIF2AK3","EP300","ERCC6","ERCC8","ESR1","EVC","EVC2","EXT1","EXTL3","FBN1","FGF9","FGFR2","FGFR3","FGFRL1","FLNA","FLNB","FN1","FZD2","GALNS","GDF5","GEMIN4","GGCX","GLB1","GMNN","GNPAT","GNPTG","GNS","GORAB","GPX4","GUSB","HESX1","HOXA13","HPGD","HS2ST1","HSPA9","HSPG2","IARS2","IDUA","IFIH1","IFT122","IFT140","IFT172","IFT52","IFT80","IHH","INPP5K","INPPL1","INVS","IQCB1","IYD","KCNH1","KIAA0586","KIAA0753","KIF15","KIF1A","KIF22","KIF7","KNSTRN","LBR","LETM1","LHX3","LHX4","LMBR1","LONP1","LTBP3","MAFB","MAP3K7","MATN3","MEG3","MGP","MIA3","MIR140","MMP13","MMP9","MRPS28","NANS","NEK1","NEK9","NEU1","NKX3-2","NMNAT1","NOG","NPHP1","NPHP3","NPHP4","NPR2","NPR3","NSD2","NSDHL","NSMCE2","NUP85","OCRL","OFD1","ORC1","ORC4","ORC6","PAM16","PCNT","PCYT1A","PDE3A","PDE4D","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PEX7","PHEX","PHYH","PIGL","PIK3C2A","PIK3CD","PIK3R1","PISD","PLK4","PLOD3","POC1A","POR","PORCN","POU1F1","PRDM5","PRKAR1A","PROP1","PTH1R","PTPN11","PYCR1","RAB23","RAB33B","RAB3GAP2","RAD21","RBBP8","RET","RETREG1","RINT1","RMRP","RNU4ATAC","RPL13","RPS6KA3","RSPRY1","RTL1","RUNX2","SALL1","SBDS","SCN9A","SDCCAG8","SHOX","SIK3","SIL1","SKIC3","SLC10A7","SLC26A2","SLC2A10","SLC34A3","SLC35B2","SLC39A13","SLC5A5","SLCO2A1","SMAD4","SMARCA2","SMARCAL1","SNRPB","SNX10","SOX9","SRCAP","SRP54","TBC1D2B","TBX4","TCIRG1","TG","TGDS","THRB","TINF2","TMEM165","TMEM67","TNFSF11","TONSL","TPO","TRAF3IP1","TRAIP","TRAPPC2","TREM2","TREX1","TRIP11","TRPS1","TRPV4","TSHB","TSHR","TTC21B","TYROBP","UFSP2","UNC45A","VDR","VPS35L","WDR19","WNK1","WNT5A","XYLT1","ZMIZ1","ZNF469"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_RENAL_CORTICOMEDULLARY_DIFFERENTIATION":{"collection":"C5:HPO","systematicName":"M36781","pmid":"","exactSource":"HP:0005932","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005932","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RENAL_CORTICOMEDULLARY_DIFFERENTIATION","geneSymbols":["ACTN4","BSND","CEP290","CLCN7","COQ7","DCDC2","DHX16","DZIP1L","H4C3","IFNG","IFT140","INVS","NIPBL","PAX2","PBX1","PDCD6IP","PKHD1","TMEM67","TSC2","TULP3","USP18","VPS33B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_RESPIRATORY_MOTILE_CILIUM_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M36782","pmid":"","exactSource":"HP:0005938","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005938","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RESPIRATORY_MOTILE_CILIUM_MORPHOLOGY","geneSymbols":["ARMC2","CCDC103","CCDC39","CCDC40","CFAP298","CFAP300","DNAAF1","DNAAF11","DNAAF2","DNAAF3","DNAAF5","DNAH11","DNAH7","DNAH9","DNAI1","DNAI2","DNAJB13","DNAL1","NME5","NME8","ODAD1","ODAD3","RSPH3","RSPH4A","RSPH9","SPAG1","TTC12","ZMYND10"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RESPIRATORY_ARREST":{"collection":"C5:HPO","systematicName":"M36783","pmid":"","exactSource":"HP:0005943","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005943","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RESPIRATORY_ARREST","geneSymbols":["ACADVL","ADGRG6","AFF3","AGRN","CHAT","COL13A1","COL2A1","CPT2","DCTN1","DDC","GET3","GPX4","HTRA2","KIT","LAMP2","MTFMT","MYL2","MYO9A","SLC18A3","SLC25A1","SLC25A20","SLC2A10","SLC5A7","SLC6A5","SNAP25","SYT2","TSPYL1","TXNDC15","VAMP1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_VENTILATOR_DEPENDENCE_WITH_INABILITY_TO_WEAN":{"collection":"C5:HPO","systematicName":"M43317","pmid":"","exactSource":"HP:0005946","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005946","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VENTILATOR_DEPENDENCE_WITH_INABILITY_TO_WEAN","geneSymbols":["ALAD","IGHMBP2","MT-TE","TK2","TRMU"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MULTIPLE_PULMONARY_CYSTS":{"collection":"C5:HPO","systematicName":"M47108","pmid":"","exactSource":"HP:0005948","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005948","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MULTIPLE_PULMONARY_CYSTS","geneSymbols":["ABCA3","ATP11A","DPP9","DSP","FAM13A","FLCN","MUC5B","PARN","PI4KA","RTEL1","SFTPA1","SFTPA2","SFTPC","SREBF1","STN1","TERC","TERT","TTC7A","WNT4","YARS1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APNEIC_EPISODES_IN_INFANCY":{"collection":"C5:HPO","systematicName":"M36785","pmid":"","exactSource":"HP:0005949","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005949","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APNEIC_EPISODES_IN_INFANCY","geneSymbols":["ACADSB","CC2D2A","FBP1","FGF13","HACD1","NACC1","NDUFS8","PLA2G6","SCN4A","SCN5A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BREATHING_DYSREGULATION":{"collection":"C5:HPO","systematicName":"M36787","pmid":"","exactSource":"HP:0005957","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005957","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BREATHING_DYSREGULATION","geneSymbols":["ACTC1","AHI1","ASCL1","CEP290","CITED2","ELP1","GATA4","GATA6","INPP5E","KYNU","MYH6","NDUFS6","NKX2-5","PHOX2B","RET","RPGRIP1L","TBX20","TLL1","TMEM216","TMEM67"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPOARGININEMIA":{"collection":"C5:HPO","systematicName":"M47109","pmid":"","exactSource":"HP:0005961","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005961","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOARGININEMIA","geneSymbols":["ALDH18A1","ASL","ASS1","ATP5F1A","CA5A","CPS1","PNPO"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_TEMPERATURE_INSTABILITY":{"collection":"C5:HPO","systematicName":"M36788","pmid":"","exactSource":"HP:0005968","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005968","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TEMPERATURE_INSTABILITY","geneSymbols":["ALG11","CDON","DDC","DISP1","DLL1","FCGR3B","FGF8","FGFR1","FOXH1","GALC","GAS1","GLI2","HERC2","LMNB1","MAGEL2","MKRN3","MYO1H","NODAL","NPAP1","PLA2G6","PLCH1","PSAP","PTCH1","PWAR1","PWRN1","SHH","SHQ1","SIX3","SLC18A2","SLC25A19","SLC31A1","SMC1A","SNORD115-1","SNORD116-1","SPR","STAG2","STIL","TDGF1","TGIF1","VPS11","ZIC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_TYPE_II_DIABETES_MELLITUS":{"collection":"C5:HPO","systematicName":"M36789","pmid":"","exactSource":"HP:0005978","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005978","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TYPE_II_DIABETES_MELLITUS","geneSymbols":["ABCA4","ABCC8","AGBL5","AHI1","AHR","AIP","AKT2","ALMS1","AMACR","AR","ARHGEF18","ARL2BP","ARL3","ARL6","ATM","BAZ1B","BBS1","BBS2","BCL7B","BEST1","BLM","BMP6","BRAF","BSCL2","BUD23","CA4","CARS1","CAT","CC2D2A","CDHR1","CELA2A","CEP19","CERKL","CFAP418","CLCNKB","CLIP2","CLRN1","CNBP","CNGA1","CNGB1","CPE","CRB1","CRX","CTNNB1","CTRC","CYP19A1","DHDDS","DHX38","DMXL2","DNAJC30","DNMT1","DYRK1B","EIF4H","ELN","ENPP1","EYS","FAM161A","FBN1","FKBP6","FSCN2","GCGR","GCK","GLRX5","GPD2","GTF2I","GTF2IRD1","GTF2IRD2","GUCA1B","HERC2","HGSNAT","HMGA1","HNF1A","HNF1B","HNF4A","IDH3A","IDH3B","IFT140","IFT172","IFT88","IGF2BP2","IL6","IMPDH1","IMPG1","IMPG2","INSR","IRS1","IRS2","KCNJ11","KIAA1549","KIZ","KLF11","KLHL7","LIG4","LIMK1","LIPC","LMF1","LMNA","LRAT","LRP6","MAFA","MAGEL2","MAK","MAPK8IP1","MC4R","MEN1","MERTK","METTL27","MKRN3","MLXIPL","MOG","MT-CO1","MT-CO2","MT-CO3","MT-ND1","MT-ND4","MT-ND5","MT-ND6","MT-TE","MT-TF","MT-TH","MT-TK","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TW","MTNR1B","NCF1","NEK2","NEUROD1","NPAP1","NR2E3","NRL","OFD1","PAX4","PCARE","PCNT","PDE6A","PDE6B","PDE6G","PDX1","PEX10","PLCD1","PNPLA6","POLA1","POLR3A","POMGNT1","PPARG","PPP1R3A","PRCD","PROM1","PRPF3","PRPF31","PRPF4","PRPF6","PRPF8","PRPH2","PTPN1","PWAR1","PWRN1","RBP3","RDH12","REEP6","RETN","RFC2","RGR","RHO","RLBP1","ROM1","RP1","RP1L1","RP2","RP9","RPE65","RPGR","SAG","SCAPER","SEMA4A","SIM1","SIN3A","SLC12A3","SLC2A2","SLC30A8","SLC7A14","SNORD115-1","SNORD116-1","SNRNP200","SPATA7","SPINK1","STUB1","STX1A","TBL2","TCF7L2","THRB","TMEM270","TOPORS","TTC8","TUB","TULP1","USH2A","VPS37D","WFS1","WRN","XRCC4","ZNF408","ZNF513"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LIMITATION_OF_NECK_MOTION":{"collection":"C5:HPO","systematicName":"M36790","pmid":"","exactSource":"HP:0005986","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005986","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIMITATION_OF_NECK_MOTION","geneSymbols":["ACVR1","ATP1A2","CACNA1A","COL2A1","COL6A2","DKK1","ERLIN2","FHL1","GABRA1","GABRG2","GDF6","IRF3","LMNA","MEOX1","MYH3","MYH7","MYL11","NDE1","NDUFS3","NEK9","NOG","PCDH19","PRRT2","SCN1A","SCN1B","SCN2A","SCN9A","SELENON","TBK1","TICAM1","TLR3","TRAF3","TTN","UNC93B1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MULTINODULAR_GOITER":{"collection":"C5:HPO","systematicName":"M47110","pmid":"","exactSource":"HP:0005987","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005987","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MULTINODULAR_GOITER","geneSymbols":["ALMS1","DICER1","KEAP1","MAD1L1","SASH1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CONGENITAL_MUSCULAR_TORTICOLLIS":{"collection":"C5:HPO","systematicName":"M36791","pmid":"","exactSource":"HP:0005988","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005988","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONGENITAL_MUSCULAR_TORTICOLLIS","geneSymbols":["COL12A1","COL6A1","COL6A2","COL6A3","GDF3","GDF6","MEOX1","PPP2R5D","SYNGAP1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_REDUNDANT_NECK_SKIN":{"collection":"C5:HPO","systematicName":"M36792","pmid":"","exactSource":"HP:0005989","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005989","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUNDANT_NECK_SKIN","geneSymbols":["ALDH18A1","ATP6V0A2","ATP6V1A","ATP6V1E1","B4GALT1","CDK13","CEP55","CSPP1","DLK1","EBP","ELN","FBLN5","FGFR2","FIG4","GATA1","HRAS","KIAA0586","MEG3","MRPS16","MRPS22","NAA10","NDUFB10","OTUD5","PEX1","PRMT7","RTL1","SH3PXD2B","TBX15","TRAF7","VAC14","WDR37","WDR81"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NODULAR_GOITER":{"collection":"C5:HPO","systematicName":"M36794","pmid":"","exactSource":"HP:0005994","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0005994","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NODULAR_GOITER","geneSymbols":["ALMS1","DICER1","FOXE1","HABP2","KEAP1","MAD1L1","MINPP1","MMP14","MMP2","RET","SASH1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_URETERAL_OBSTRUCTION":{"collection":"C5:HPO","systematicName":"M36795","pmid":"","exactSource":"HP:0006000","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006000","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_URETERAL_OBSTRUCTION","geneSymbols":["APC2","ATP7A","BRF1","CDH11","CTLA4","DHCR7","DSTYK","EYA1","FLNA","GNB1","GRHPR","HLA-DPA1","HLA-DPB1","HNF1B","HOXA13","KDM6A","KMT2D","LAMA3","LAMB3","LAMC2","MAP3K7","MYOD1","NODAL","NSD1","PIGL","PIGT","PRTN3","PTPN22","SETBP1","SETD2","SF3B2","SIX1","SIX5","SLC26A1","SLC35A2","SOX17","TBX18","YY1","ZMYM2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALLY_SHAPED_CARPAL_BONES":{"collection":"C5:HPO","systematicName":"M43318","pmid":"","exactSource":"HP:0006014","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006014","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALLY_SHAPED_CARPAL_BONES","geneSymbols":["COMP","DYM","EIF2AK3","GDF5","GNPTAB","IDH1","KIF22"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_Y_SHAPED_METACARPALS":{"collection":"C5:HPO","systematicName":"M36796","pmid":"","exactSource":"HP:0006042","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006042","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_Y_SHAPED_METACARPALS","geneSymbols":["CPLANE1","FAM149B1","GLI3","HOXD13","IFT27","INTU","KIAA0753","KIF7","NEK1","OFD1","PDE6D","TCTN3","TMEM216","TOPORS"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_METACARPOPHALANGEAL_JOINT_CONTRACTURE":{"collection":"C5:HPO","systematicName":"M43319","pmid":"","exactSource":"HP:0006070","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006070","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_METACARPOPHALANGEAL_JOINT_CONTRACTURE","geneSymbols":["ASXL1","FLNA","MAP3K7","MYL11","RNF13"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PALMAR_HYPERHIDROSIS":{"collection":"C5:HPO","systematicName":"M36797","pmid":"","exactSource":"HP:0006089","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006089","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PALMAR_HYPERHIDROSIS","geneSymbols":["CDSN","CFTR","CTSB","KRT16","KRT17","KRT6A","KRT6B","LAMB3","MBTPS2","PERP","PLAA","RSPO1","SERPINB7","TRPV3","WNT10A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_3_4_FINGER_SYNDACTYLY":{"collection":"C5:HPO","systematicName":"M43320","pmid":"","exactSource":"HP:0006097","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006097","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_3_4_FINGER_SYNDACTYLY","geneSymbols":["BHLHA9","CDH3","CPLANE1","DSP","EFNB1","GLI3","HOXD13","JUP","MAB21L2","PORCN","SALL1","TMEM53"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FINGER_SYNDACTYLY":{"collection":"C5:HPO","systematicName":"M36798","pmid":"","exactSource":"HP:0006101","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006101","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FINGER_SYNDACTYLY","geneSymbols":["ABCC9","ADAMTS3","AKT1","ALDH1A2","APC","ARHGAP31","ARL6","ARL6IP6","BAP1","BBIP1","BBS1","BBS10","BBS12","BBS2","BBS4","BBS5","BBS7","BBS9","BCOR","BHLHA9","BMP4","BMS1","BRCA1","BRCA2","BRIP1","BTRC","CACNA1C","CCBE1","CCDC22","CDC45","CDH1","CDH11","CDH3","CEP19","CEP290","CFAP418","CHRNG","CHSY1","CHUK","CKAP2L","CPLANE1","CTNND1","CTNND2","DCHS1","DHCR7","DHODH","DLL3","DLL4","DLX5","DLX6","DOCK6","DPYSL5","DSP","DVL1","DVL3","EED","EFNB1","EOGT","EPS15L1","ERCC4","ESCO2","EZH2","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FAT4","FBXW4","FERMT1","FGD1","FGF10","FGFR1","FGFR2","FGFR3","FLI1","FLNB","FRAS1","FREM2","FZD2","GDF5","GJA1","GLI3","GNA11","GPC3","GPC4","GRIP1","H4C9","HDAC4","HES7","HOXA11","HOXD13","IFT122","IFT172","IFT27","IFT43","IFT52","IFT74","IKBKG","IRF6","ITGB4","JUP","KAT6A","KCNJ8","KCTD1","KIF7","KIFBP","LFNG","LMBR1","LRP4","LZTFL1","MAB21L2","MAD2L2","MECOM","MED12","MED25","MEGF8","MESP2","MKKS","MKS1","MYH3","NAA10","NECTIN1","NECTIN4","NEDD4L","NEK1","NEK9","NOG","NOTCH1","NPHP1","NSD1","NSDHL","NXN","OFD1","ORC1","PALB2","PAX3","PHGDH","PIEZO2","PIK3CA","PITX1","PLEC","PLXND1","PNPLA6","PORCN","PPP2R3C","PSAT1","PTDSS1","PTEN","RAB23","RAD51","RAD51C","RB1","RBM10","RBM8A","RBPJ","REV3L","RFWD3","RIPK4","RIPPLY2","ROR2","RPL10","RTTN","SALL1","SALL4","SCAPER","SCLT1","SDCCAG8","SEM1","SEMA5A","SETBP1","SF3B4","SHH","SLX4","SMO","SMOC1","SOST","SPECC1L","SUZ12","TBX5","TCTN3","TMEM53","TP63","TRIM32","TTC8","TWIST1","TWIST2","UBA2","UBE2T","UBE3A","VPS13B","VPS35L","WASHC5","WDPCP","WDR19","WDR35","WNT10B","WNT5A","WNT7A","XRCC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABSENT_PHALANGEAL_CREASE":{"collection":"C5:HPO","systematicName":"M36799","pmid":"","exactSource":"HP:0006109","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006109","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_PHALANGEAL_CREASE","geneSymbols":["COL1A2","HOXD13","IHH","LMX1B","MASP1","MET","MYH3","NOG","PIEZO2","RBBP8","ROR2","TBX15","TLK2","TNNI2","TPM2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SHORTENING_OF_ALL_MIDDLE_PHALANGES_OF_THE_FINGERS":{"collection":"C5:HPO","systematicName":"M36800","pmid":"","exactSource":"HP:0006110","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006110","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORTENING_OF_ALL_MIDDLE_PHALANGES_OF_THE_FINGERS","geneSymbols":["COL2A1","EIF2AK3","FGFR1","FGFR2","GDF5","HOXA13","PHF6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SHORTENING_OF_ALL_DISTAL_PHALANGES_OF_THE_FINGERS":{"collection":"C5:HPO","systematicName":"M36801","pmid":"","exactSource":"HP:0006118","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006118","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORTENING_OF_ALL_DISTAL_PHALANGES_OF_THE_FINGERS","geneSymbols":["ALG6","BRF1","MGP","PGAP2","PGAP3","PHF6","PIGL","PIGO","PIGV","PIGW","PIGY","POR","VPS35L"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ACRAL_ULCERATION":{"collection":"C5:HPO","systematicName":"M36802","pmid":"","exactSource":"HP:0006121","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006121","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACRAL_ULCERATION","geneSymbols":["CCT5","KIF1A","MPV17","NGF","NTRK1","RETREG1","SCN9A","SPTLC1","WNK1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_FINGER_FLEXION_CREASE":{"collection":"C5:HPO","systematicName":"M36803","pmid":"","exactSource":"HP:0006143","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006143","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FINGER_FLEXION_CREASE","geneSymbols":["ATR","CHST11","COL1A2","GDF5","HOXD13","IHH","LMX1B","MASP1","MET","MYH3","NOG","PIEZO2","RBBP8","ROR2","TBX15","TLK2","TNNI2","TPM2","WNT7A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CENTRAL_Y_SHAPED_METACARPAL":{"collection":"C5:HPO","systematicName":"M36804","pmid":"","exactSource":"HP:0006145","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006145","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CENTRAL_Y_SHAPED_METACARPAL","geneSymbols":["CPLANE1","FAM149B1","INTU","KIAA0753","KIF7","OFD1","PDE6D","TCTN3","TMEM216","TOPORS"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INCREASED_LAXITY_OF_FINGERS":{"collection":"C5:HPO","systematicName":"M41323","pmid":"","exactSource":"HP:0006149","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006149","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_LAXITY_OF_FINGERS","geneSymbols":["COL12A1","COL6A1","COL6A2","COL6A3","COMP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SWAN_NECK_LIKE_DEFORMITIES_OF_THE_FINGERS":{"collection":"C5:HPO","systematicName":"M41324","pmid":"","exactSource":"HP:0006150","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006150","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SWAN_NECK_LIKE_DEFORMITIES_OF_THE_FINGERS","geneSymbols":["CD244","CIITA","IL10","NFKBIL1","PCDHGC4","PEX5","PTPN22","SACS","SLC22A4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MESOAXIAL_HAND_POLYDACTYLY":{"collection":"C5:HPO","systematicName":"M36805","pmid":"","exactSource":"HP:0006159","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006159","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MESOAXIAL_HAND_POLYDACTYLY","geneSymbols":["CHSY1","CPLANE1","FAM149B1","FGFR2","GLI3","HOXD13","IFT27","LZTFL1","MAP3K20","MKKS","TFAP2B","TWIST1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DECREASED_PALMAR_CREASES":{"collection":"C5:HPO","systematicName":"M36806","pmid":"","exactSource":"HP:0006184","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006184","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_PALMAR_CREASES","geneSymbols":["AUTS2","CHST14","DSE","PIEZO2","PLOD3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DEEP_PALMAR_CREASE":{"collection":"C5:HPO","systematicName":"M36807","pmid":"","exactSource":"HP:0006191","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006191","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEEP_PALMAR_CREASE","geneSymbols":["AIP","ASXL1","ASXL2","ASXL3","ATP6V0A2","ATP6V1B2","BRAF","CDK10","DPYD","GPR101","HNRNPK","HRAS","KCNH1","KCNMA1","KCNN3","KRAS","LTBP1","MAP2K1","MAP2K2","MTOR","MTX2","OTUD5","PGM2L1","PRR12","RBM10","SHOC2","SLC25A24","SPECC1L","SPRED2","TBL1XR1","VPS33A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PROMINENT_INTERPHALANGEAL_JOINTS":{"collection":"C5:HPO","systematicName":"M47111","pmid":"","exactSource":"HP:0006237","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006237","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROMINENT_INTERPHALANGEAL_JOINTS","geneSymbols":["ARID1B","COL11A2","PCGF2","SMARCA2","SMARCA4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PHALANGEAL_DISLOCATION":{"collection":"C5:HPO","systematicName":"M41325","pmid":"","exactSource":"HP:0006243","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006243","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PHALANGEAL_DISLOCATION","geneSymbols":["AEBP1","B3GALT6","B4GALT7","CANT1","COL1A1","COL5A1","COL5A2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ENLARGED_INTERPHALANGEAL_JOINTS":{"collection":"C5:HPO","systematicName":"M41326","pmid":"","exactSource":"HP:0006247","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006247","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ENLARGED_INTERPHALANGEAL_JOINTS","geneSymbols":["CCN6","COL2A1","HOXD13","KAT6A","MATN3","RAB33B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LIMITED_WRIST_MOVEMENT":{"collection":"C5:HPO","systematicName":"M36808","pmid":"","exactSource":"HP:0006248","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006248","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIMITED_WRIST_MOVEMENT","geneSymbols":["COLQ","FLNA","GDAP1","GNE","GNPTAB","LAMB2","LMNA","LTBP3","MAP3K7","OPA3","PIEZO2","SALL4","SHOX","TRAPPC2","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INTERPHALANGEAL_JOINT_EROSIONS":{"collection":"C5:HPO","systematicName":"M41327","pmid":"","exactSource":"HP:0006252","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006252","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTERPHALANGEAL_JOINT_EROSIONS","geneSymbols":["CD244","CIITA","IL10","MMP2","NFKBIL1","PTPN22","SLC22A4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_HAND_JOINT_MOBILITY":{"collection":"C5:HPO","systematicName":"M36810","pmid":"","exactSource":"HP:0006256","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006256","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_HAND_JOINT_MOBILITY","geneSymbols":["ASAH1","BRAF","CBL","CCN6","COL12A1","COL1A1","COL1A2","COL3A1","COL5A1","COL6A1","COL6A2","COL6A3","COMP","CSGALNACT1","FBN1","FGD1","FLNC","GNB2","GNPTAB","GORAB","HDAC4","HNRNPDL","HRAS","HYAL1","IFITM5","KCNH1","KRT1","LMX1B","MED12","NFASC","NLRP1","OTUD6B","P4HTM","PIGG","PKDCC","PLAA","PROKR2","PRR12","PTDSS1","RAB3GAP2","RNF13","RPS6KA3","SMS","SP7","TMCO1","YY1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_PHALANGEAL_JOINT_MORPHOLOGY_OF_THE_HAND":{"collection":"C5:HPO","systematicName":"M41328","pmid":"","exactSource":"HP:0006261","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006261","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PHALANGEAL_JOINT_MORPHOLOGY_OF_THE_HAND","geneSymbols":["ACTG2","ADAMTS3","ADAMTSL2","ADAT3","ALX1","ALX3","ANTXR2","APC2","ARID1B","ARPC4","ASPN","ASXL3","BCOR","BCR","CANT1","CAPN3","CASZ1","CCBE1","CCDC22","CCN6","CD244","CDC45","CDC6","CDT1","CFTR","CHRNG","CHST3","CIITA","CLCF1","COG5","COL11A1","COL11A2","COL12A1","COL1A1","COL2A1","COL6A1","COL6A2","COL6A3","CRKL","CRLF1","CSGALNACT1","CTDP1","CUL4B","DHODH","DLL3","DOK7","DVL1","DVL3","EED","EFNB1","EMG1","ERCC1","ERCC2","ERCC5","ERCC6","EZH2","FAT4","FBN1","FBN2","FBXO28","FERMT1","FGD1","FGF9","FGFR1","FGFR3","FKTN","FLNA","FZD2","GABRD","GDAP1","GDF5","GJA1","GMNN","GNPTAB","GON7","GPC3","GPC4","GPKOW","H4C9","HES7","HINT1","HOXD13","HSPG2","IDS","IDUA","IGHMBP2","IKBKG","IL10","IL6ST","IPO8","KAT6A","KAT6B","KCNAB2","KCNK9","KDM5B","KDM5C","KIF21A","KRT14","L1CAM","LAGE3","LAMB3","LFNG","LIFR","LMBR1","LMNA","LUZP1","MAFB","MAP3K7","MAPK1","MATN3","MBTPS2","MED12","MED25","MEGF10","MESP2","MKS1","MMP2","MMP23B","MORC2","MUSK","MYBPC1","MYH3","MYL11","MYOD1","NAA10","NALCN","NEDD4L","NFKBIL1","NLRP3","NOD2","NOG","NSD1","NUP107","NUP133","NUP88","NXN","OCRL","ORC1","ORC4","ORC6","OSGEP","PAX3","PCGF2","PDPN","PEX1","PEX6","PIEZO2","PIGL","PLOD3","POLR3A","POLR3GL","PORCN","PRDM16","PRG4","PRKCZ","PSMB8","PTPN22","RAB33B","RAB3GAP1","RAPSN","RERE","RIPPLY2","ROR2","RPL10","RTTN","SALL4","SCARF2","SCN4A","SETD2","SH3PXD2B","SHH","SKI","SLC18A3","SLC22A4","SLC26A2","SLC29A3","SLC35A2","SLC35A3","SLC39A13","SMAD3","SMARCA2","SMARCA4","SMARCAD1","SMC1A","SMG9","SMOC1","SPEN","SUZ12","TBC1D2B","TBR1","TBX2","TBX3","TCTN3","TDO2","TGDS","TGFB3","TGFBR1","TGFBR2","TLK2","TMEM70","TNNI2","TNNT3","TOR1AIP1","TP53RK","TPM2","TPRKB","TRAPPC2","TRPS1","TRPV4","TUBA1A","TUBB3","TWIST2","UBE4B","UPF3B","WDR4","WDR73","WFS1","WNT5A","XYLT1","YRDC","ZDHHC9","ZMPSTE24","ZNF407"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APLASIA_HYPOPLASIA_OF_THE_5TH_FINGER":{"collection":"C5:HPO","systematicName":"M36812","pmid":"","exactSource":"HP:0006262","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006262","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_5TH_FINGER","geneSymbols":["ARID1A","ARID1B","ARID2","ATP6V1B2","BMP2","BMPR1B","CDKN1C","CNOT2","COL2A1","COX4I1","CUL7","DPF2","DVL1","EIF4A3","FGD1","GATA1","GDF5","GJA1","GNAS","GNB2","HMGA2","HNRNPR","HOXA13","HOXD13","IFT140","IGF2","KDM6A","KIF15","KMT2A","KMT2D","MAPK8IP3","MASP1","MEIS2","MYCN","NIN","NOG","OBSL1","PIK3C2A","PKDCC","PLAG1","PUF60","RAC1","RBBP8","ROR2","RUNX2","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SMC3","SOX11","SOX4","SRCAP","TBC1D24","TBX3","TFAP2B","WNT5A","WNT7A","ZMYM2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APLASIA_HYPOPLASIA_OF_THE_2ND_FINGER":{"collection":"C5:HPO","systematicName":"M36813","pmid":"","exactSource":"HP:0006264","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006264","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_2ND_FINGER","geneSymbols":["BMP2","BMPR1B","COL2A1","FIG4","GDF5","GPC3","GPC4","HOXD13","IFT140","INTU","IRX5","KIF15","MEIS2","MYCN","NSDHL","RUNX2","SRCAP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APLASIA_HYPOPLASIA_OF_FINGERS":{"collection":"C5:HPO","systematicName":"M36814","pmid":"","exactSource":"HP:0006265","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006265","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_FINGERS","geneSymbols":["ABCA12","ABCC9","ACAN","ACP5","ACTL6B","ACVR1","ADA2","ADAMTS10","AIFM1","ALG6","ALMS1","ALOX12B","ALOXE3","AP1G1","APC","ARHGAP31","ARID1A","ARID1B","ARID2","ARSL","ARX","ASAH1","ASPH","ATP6V1B2","BCOR","BCR","BHLHA9","BICRA","BMP2","BMP4","BMPR1B","BRCA1","BRCA2","BRD4","BRF1","BRIP1","CANT1","CASK","CBFB","CCDC22","CDC42BPB","CDKL5","CDKN1C","CEP152","CHD7","CHN1","CHRNA1","CHRND","CHRNG","CHST11","CHST3","CLCN7","CNOT2","COG4","COL10A1","COL25A1","COL2A1","COMP","COX4I1","CPLX1","CREBBP","CRIPT","CRKL","CTBP1","CTSK","CUL3","CUL7","CWC27","DDR2","DHCR7","DHODH","DLK1","DLL4","DLX5","DMXL2","DOCK6","DONSON","DPF2","DVL1","DYNC2LI1","EDA","EDA2R","EIF2AK3","EIF4A3","EN1","EOGT","EP300","ERCC4","ESCO2","EVC","EVC2","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FBN1","FGD1","FGF10","FGFR1","FGFR2","FGFR3","FGFRL1","FIG4","FLNA","FLNB","FN1","FRAS1","FTSJ1","FZD2","GATA1","GDF5","GGCX","GJA1","GJA5","GJA8","GLI1","GMNN","GNAO1","GNAS","GNB2","GPC3","GPC4","GPX4","GRIN1","GRM7","HDAC8","HEATR3","HESX1","HMGA2","HNRNPR","HOXA13","HOXD13","IFT122","IFT140","IFT43","IFT52","IFT57","IGF1R","IGF2","IHH","INTU","IRX5","JAG1","KCNA1","KCNH1","KCNJ2","KCNJ8","KCNN3","KDM1A","KDM5C","KDM6A","KIF15","KIF21A","KMT2A","KMT2D","KNSTRN","LAMA5","LBR","LETM1","LHX3","LHX4","LIG4","LMBR1","LMNA","LMNB2","LRP4","LTBP2","MAD2L2","MAFB","MAP3K7","MAPK1","MAPK8IP3","MASP1","MBD5","MCTP2","MECOM","MED12","MEG3","MEGF8","MEIS2","MGP","MIR17HG","MTOR","MYCN","NEK1","NELFA","NEPRO","NEUROD2","NFIX","NIN","NIPBL","NOG","NOTCH1","NOTCH2","NSD2","NSDHL","NSUN2","NXN","OBSL1","OFD1","PALB2","PCNT","PCYT1A","PDE4D","PDGFRB","PGAP2","PGAP3","PHF6","PHOX2A","PIGB","PIGF","PIGG","PIGL","PIGN","PIGO","PIGP","PIGQ","PIGS","PIGV","PIGW","PIGY","PIK3C2A","PIK3CD","PKDCC","PLAG1","PLXND1","PNKP","POC1A","POLA1","POR","PORCN","POU1F1","PRKACA","PRKACB","PRKG2","PRMT7","PROP1","PSMD12","PTCH1","PTH1R","PTHLH","PUF60","RAC1","RAD21","RAD51","RAD51C","RB1","RBBP8","RBM8A","RBPJ","RECQL4","REV3L","RFWD3","RIPK4","RMRP","RNU4ATAC","ROBO1","ROR2","RPL10","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS6KA3","RPS7","RSPO2","RTL1","RUNX2","RYR3","SALL4","SCN1B","SCN2A","SETBP1","SF3B4","SHH","SIK1","SIN3A","SLC25A22","SLC25A24","SLC26A2","SLC32A1","SLX4","SMAD4","SMARCA2","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SMC1A","SMC3","SMOC1","SON","SOX11","SOX4","SOX9","SRCAP","STAMBP","SVBP","TBC1D24","TBL1XR1","TBX3","TBX5","TCTN3","TFAP2A","TFAP2B","TP63","TRIM8","TRIO","TRPM3","TRPS1","TRPV4","TSR2","TUBA1A","TUBB2B","TUBB3","TWIST1","UBE2T","VAC14","VPS35L","WDR19","WDR35","WIPI2","WNT10B","WNT5A","WNT7A","XRCC2","ZBTB20","ZMIZ1","ZMPSTE24","ZMYM2","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SMALL_PLACENTA":{"collection":"C5:HPO","systematicName":"M36815","pmid":"","exactSource":"HP:0006266","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006266","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SMALL_PLACENTA","geneSymbols":["CDKN1C","HMGA2","IGF1","IGF2","LMNA","MUSK","PHGDH","PLAG1","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LARGE_PLACENTA":{"collection":"C5:HPO","systematicName":"M41329","pmid":"","exactSource":"HP:0006267","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006267","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LARGE_PLACENTA","geneSymbols":["DLK1","LBR","LMNA","MEG3","MKS1","RTL1","SKIC3","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPOPLASTIC_SPLEEN":{"collection":"C5:HPO","systematicName":"M43321","pmid":"","exactSource":"HP:0006270","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006270","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASTIC_SPLEEN","geneSymbols":["FAM111A","KATNB1","MCM10","NDE1","RELN","SAMD9","STIM1","STRA6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_REDUCED_PANCREATIC_BETA_CELLS":{"collection":"C5:HPO","systematicName":"M36816","pmid":"","exactSource":"HP:0006274","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006274","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_PANCREATIC_BETA_CELLS","geneSymbols":["ABCC8","EIF2AK3","GCK","INS","KCNJ11","PDX1","STAT3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPERECHOGENIC_PANCREAS":{"collection":"C5:HPO","systematicName":"M47112","pmid":"","exactSource":"HP:0006276","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006276","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERECHOGENIC_PANCREAS","geneSymbols":["ASXL1","DNAJC21","EFL1","NPHP3","PTRH2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CHRONIC_PANCREATITIS":{"collection":"C5:HPO","systematicName":"M47113","pmid":"","exactSource":"HP:0006280","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006280","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHRONIC_PANCREATITIS","geneSymbols":["GK","PNPLA2","SLC37A4","SPINK1","XPNPEP3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ENAMEL_HYPOMINERALIZATION":{"collection":"C5:HPO","systematicName":"M36818","pmid":"","exactSource":"HP:0006285","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006285","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ENAMEL_HYPOMINERALIZATION","geneSymbols":["AMTN","DIAPH1","DLX3","ENAM","GPR68","KLK4","ODAPH","PHEX","RELT","WDR72"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_YELLOW_BROWN_DISCOLORATION_OF_THE_TEETH":{"collection":"C5:HPO","systematicName":"M36819","pmid":"","exactSource":"HP:0006286","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006286","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_YELLOW_BROWN_DISCOLORATION_OF_THE_TEETH","geneSymbols":["CNNM4","DLX3","DSPP","ENAM","FAM20A","ITGB6","KLK4","KRT14","MMP20","RELT","ROGDI","SATB1","SLC13A5","SLC24A4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ADVANCED_ERUPTION_OF_TEETH":{"collection":"C5:HPO","systematicName":"M36820","pmid":"","exactSource":"HP:0006288","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006288","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ADVANCED_ERUPTION_OF_TEETH","geneSymbols":["ADNP","AMER1","BCL11B","C2CD3","CEP120","CILK1","CREBBP","DHCR7","DPH1","DSP","EHMT1","EP300","EVC","EVC2","FAM20C","FGFR2","FLNA","GLI3","GTF2H5","INSR","INTU","JUP","KDF1","KDM6A","KMT2C","KMT2D","KRT16","KRT17","KRT6A","KRT6B","LMNA","MID1","MKS1","NEK1","NFIX","NSD1","POLR3A","POLR3B","PTH1R","RPS6KA3","SPECC1L","VARS1","ZMPSTE24","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_AGENESIS_OF_CENTRAL_INCISOR":{"collection":"C5:HPO","systematicName":"M43322","pmid":"","exactSource":"HP:0006289","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006289","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AGENESIS_OF_CENTRAL_INCISOR","geneSymbols":["AXIN2","EDA","EDARADD","EIF4A3","FGFR1","IRF6","LRP6","MSX1","NEK1","PAX9","SUMO1","TGFA","WNT10A","WNT10B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_DENTAL_ERUPTION":{"collection":"C5:HPO","systematicName":"M36821","pmid":"","exactSource":"HP:0006292","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006292","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_DENTAL_ERUPTION","geneSymbols":["ABCA5","ACP5","ADAMTS3","ADAMTSL1","ADNP","AMER1","AMMECR1","ANAPC1","ANTXR1","APC","APC2","ARHGAP29","ARHGEF38","ARID1A","ARID1B","ARID2","ARSB","ATP6V0A2","ATP6V1B2","AXIN2","BCL11B","BCOR","BMP4","BRD4","C2CD3","CA2","CAMK2B","CBFB","CCBE1","CCDC8","CDH1","CDH11","CEP120","CHD7","CHST3","CILK1","CLCN7","COBLL1","CREBBP","CRTAP","CTSK","CUL7","CYP27B1","CYP2R1","DEAF1","DHCR7","DLG1","DLX4","DMP1","DNAJC21","DPF2","DPH1","DPYD","DSP","DVL1","DYNC2LI1","EDA","EDA2R","EDARADD","EDNRA","EFL1","EHMT1","ELMO2","ENPP1","EP300","ERCC1","ERCC4","ERCC6","ERCC8","EVC","EVC2","FAM111A","FAM20A","FAM20C","FAT4","FGD1","FGF3","FGFR1","FGFR2","FLII","FLNA","FLNB","GDF5","GHR","GJA1","GLI1","GLI3","GNAS","GNB2","GRHL2","GTF2H5","HDAC4","HDAC8","HOXD13","IDS","IFIH1","IGF1","IKBKG","IL11RA","IL6ST","INSR","INTU","IQSEC2","IRF6","JUP","KAT6B","KCNH1","KCNJ2","KCNJ5","KCTD1","KDF1","KDM6A","KIF7","KMT2C","KMT2D","KRT16","KRT17","KRT6A","KRT6B","LEMD2","LIG4","LMNA","LONP1","LRP6","MAP3K7","MIA3","MID1","MKS1","MMP2","MSX1","MYSM1","NAA10","NDUFB11","NECTIN1","NEK1","NFIX","NIPBL","NPHS1","NSD1","NSUN2","OBSL1","OCRL","P4HB","PAPPA2","PAX9","PDE4D","PDGFRA","PDGFRB","PIGA","PIGF","PIGL","PIK3R1","POLR3A","POLR3B","PORCN","PRKACA","PRKACB","PRKAR1A","PTCH1","PTH1R","PTHLH","PUS7","RAB23","RAD21","RAI1","RECQL","RECQL4","RHOA","RIC1","ROR2","RPS6KA3","RUNX2","SATB1","SBDS","SEC23A","SEC24D","SEMA3E","SETBP1","SETD2","SFRP4","SH3BP2","SH3PXD2B","SLC13A5","SLC1A2","SLC29A3","SLC37A4","SLC39A13","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SMC1A","SMC3","SMCHD1","SNX10","SNX14","SOX11","SOX4","SP7","SPECC1L","SRCAP","SRP54","STAT3","STX16","SUMO1","SUOX","TBC1D24","TCF4","TCIRG1","TEKT3","TFAP2B","TGFA","TGFB1","THRA","TNFRSF11A","TNFSF11","TONSL","TP63","TRIO","TRIP11","TRPS1","TWIST2","UBR1","VARS1","VDR","WNT10A","WNT10B","WNT5A","ZBTB7A","ZEB2","ZMPSTE24","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ENAMEL_HYPOPLASIA":{"collection":"C5:HPO","systematicName":"M36822","pmid":"","exactSource":"HP:0006297","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006297","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ENAMEL_HYPOPLASIA","geneSymbols":["AARS1","ACP4","AIRE","ALDH3A2","AMBN","AMELX","ATR","AXIN2","CARS1","CEP152","CHD3","CLDN1","COG6","COL17A1","COL7A1","CREBBP","CTBP1","CTSK","CYP27B1","CYP2R1","DDX59","DLX3","DNAJC21","EDA","EDARADD","EP300","ERCC1","ERCC2","ERCC3","ERCC4","ERCC6","ERCC8","FAM20C","FBXO28","FGF10","FGFR1","FGFR2","FGFR3","FLNB","GALNT3","GJA1","GNAS","GNB2","GRHL2","GTF2E2","GTF2H5","HLA-DQA1","HLA-DQB1","IFT122","IRF6","IRX5","ITGA6","ITGB4","ITGB6","KCNJ2","KRT14","KRT5","LAMA3","LAMB3","LAMC2","LMX1B","LONP1","LRP4","LRP6","MMP1","MPLKIP","MSX1","NECTIN4","NF1","NUP133","OCRL","ODAPH","OFD1","PAK2","PAX9","PCNT","PEX1","PGAP1","PIK3C2A","PLEC","PORCN","PTDSS1","RHOA","RNF113A","ROGDI","RUNX2","SATB1","SCUBE3","SLC10A7","SLC35A2","SMARCA2","SMOC2","SP6","STX16","SUMO1","TARS1","TGFA","TP63","TRIM37","TTC7A","VDR","WNT10A","WNT10B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PROLONGED_BLEEDING_AFTER_DENTAL_EXTRACTION":{"collection":"C5:HPO","systematicName":"M36823","pmid":"","exactSource":"HP:0006298","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006298","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROLONGED_BLEEDING_AFTER_DENTAL_EXTRACTION","geneSymbols":["DTNBP1","F10","F11","F13A1","F13B","F2","F5","F7","F8","FGA","FGB","FGG","GP1BA","GP1BB","GP9","ITGB3","LMAN1","MCFD2","RASGRP2","SERPINE1","VWF"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ATROPHY_OF_ALVEOLAR_RIDGES":{"collection":"C5:HPO","systematicName":"M41330","pmid":"","exactSource":"HP:0006308","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006308","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ATROPHY_OF_ALVEOLAR_RIDGES","geneSymbols":["C1R","C1S","CTSC","ELANE","LYST"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_WIDELY_SPACED_PRIMARY_TEETH":{"collection":"C5:HPO","systematicName":"M41331","pmid":"","exactSource":"HP:0006313","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006313","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WIDELY_SPACED_PRIMARY_TEETH","geneSymbols":["ERCC1","ERCC4","ERCC6","ERCC8","RNF113A","WNT10A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SOLITARY_MEDIAN_MAXILLARY_CENTRAL_INCISOR":{"collection":"C5:HPO","systematicName":"M36824","pmid":"","exactSource":"HP:0006315","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006315","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SOLITARY_MEDIAN_MAXILLARY_CENTRAL_INCISOR","geneSymbols":["ANKRD11","BCOR","CDON","CNOT1","DISP1","DLL1","EVC","EVC2","FGF8","FGFR1","FOXH1","GAS1","GLI2","MID1","NODAL","PLCH1","PTCH1","SHH","SIX3","SMAD2","SMC1A","STAG2","STIL","SUFU","TDGF1","TGIF1","ZIC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PREMATURE_LOSS_OF_PRIMARY_TEETH":{"collection":"C5:HPO","systematicName":"M36825","pmid":"","exactSource":"HP:0006323","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006323","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PREMATURE_LOSS_OF_PRIMARY_TEETH","geneSymbols":["ALPL","C1R","C1S","CLCN7","COL3A1","CSTB","CTSC","EDAR","EDARADD","FERMT1","FIG4","GJA1","KDF1","PRKD1","SNX10","TCIRG1","TNFSF11","TRAF6","VAC14","VDR","WNT10A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SUPERNUMERARY_MAXILLARY_INCISOR":{"collection":"C5:HPO","systematicName":"M36826","pmid":"","exactSource":"HP:0006332","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006332","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUPERNUMERARY_MAXILLARY_INCISOR","geneSymbols":["IRF6","MSX1","NECTIN1","NHS","TP63"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPOPLASIA_OF_THE_PRIMARY_TEETH":{"collection":"C5:HPO","systematicName":"M41332","pmid":"","exactSource":"HP:0006334","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006334","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASIA_OF_THE_PRIMARY_TEETH","geneSymbols":["ERCC1","ERCC4","ERCC6","ERCC8","GJA1","PCGF2","UBR1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PERSISTENCE_OF_PRIMARY_TEETH":{"collection":"C5:HPO","systematicName":"M36827","pmid":"","exactSource":"HP:0006335","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006335","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERSISTENCE_OF_PRIMARY_TEETH","geneSymbols":["BCOR","CA2","CTSK","DVL1","EHMT1","FAM111A","FLNA","IL6ST","KCNJ2","KCNJ5","KIF7","LMNA","PTH1R","PUS7","RAB23","RHOA","SFRP4","SRCAP","STAT3","TFAP2B","TNFSF11","WNT5A","ZBTB7A","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PEG_SHAPED_MAXILLARY_LATERAL_INCISORS":{"collection":"C5:HPO","systematicName":"M36828","pmid":"","exactSource":"HP:0006342","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006342","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PEG_SHAPED_MAXILLARY_LATERAL_INCISORS","geneSymbols":["ARHGAP29","ARHGEF38","AXIN2","BMP4","CDH1","COBLL1","DLG1","DLX4","EDA","EDARADD","FGF3","FGFR1","IRF6","KAT6A","LRP6","MSX1","NECTIN1","NEK1","PAX9","PDGFRA","RIC1","SUMO1","TGFA","TP63","WNT10A","WNT10B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_AGENESIS_OF_PERMANENT_TEETH":{"collection":"C5:HPO","systematicName":"M36829","pmid":"","exactSource":"HP:0006349","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006349","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AGENESIS_OF_PERMANENT_TEETH","geneSymbols":["C1R","C1S","CREBBP","DVL3","EP300","GNB2","KCTD1","LRP6","MESD","MSX1","OFD1","RAB23","RAD51","RECQL4","RIPK4","SATB2","UBR1","WDR35","WNT10A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FAILURE_OF_ERUPTION_OF_PERMANENT_TEETH":{"collection":"C5:HPO","systematicName":"M36830","pmid":"","exactSource":"HP:0006352","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006352","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FAILURE_OF_ERUPTION_OF_PERMANENT_TEETH","geneSymbols":["FLNB","MAP3K7","PTH1R","SMCHD1","TCF4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PREMATURE_LOSS_OF_PERMANENT_TEETH":{"collection":"C5:HPO","systematicName":"M41333","pmid":"","exactSource":"HP:0006357","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006357","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PREMATURE_LOSS_OF_PERMANENT_TEETH","geneSymbols":["ALPL","CAT","ELANE","ITGB4","LRP4","RSPO1","TP63"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_IRREGULAR_FEMORAL_EPIPHYSIS":{"collection":"C5:HPO","systematicName":"M36831","pmid":"","exactSource":"HP:0006361","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006361","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IRREGULAR_FEMORAL_EPIPHYSIS","geneSymbols":["ADAMTSL2","CDC6","COL11A1","COL2A1","COL9A1","PEX5","RNU4ATAC","RPL13","TRPV4","UFSP2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CRUMPLED_LONG_BONES":{"collection":"C5:HPO","systematicName":"M36832","pmid":"","exactSource":"HP:0006367","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006367","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CRUMPLED_LONG_BONES","geneSymbols":["COL1A1","COL1A2","CRTAP","LRP5","P4HB","SEC24D"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LIMITED_ELBOW_FLEXION":{"collection":"C5:HPO","systematicName":"M36833","pmid":"","exactSource":"HP:0006376","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006376","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIMITED_ELBOW_FLEXION","geneSymbols":["ASXL1","CHST3","FZD2","GPC6","KCNK9","LMX1B","MYOT","PTH1R","SLC26A2","STXBP1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SHORT_LOWER_LIMBS":{"collection":"C5:HPO","systematicName":"M36835","pmid":"","exactSource":"HP:0006385","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006385","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_LOWER_LIMBS","geneSymbols":["ADNP","ALPL","ARL6IP6","COL2A1","EXT1","EXT2","FN1","GNA11","LAMA5","MMP13","NOG","PPIB","SLC26A2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LIMITED_KNEE_FLEXION":{"collection":"C5:HPO","systematicName":"M46115","pmid":"","exactSource":"HP:0006389","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006389","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIMITED_KNEE_FLEXION","geneSymbols":["ECEL1","FLNA","FLNC","GPC6","VCP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_OVERTUBULATED_LONG_BONES":{"collection":"C5:HPO","systematicName":"M36837","pmid":"","exactSource":"HP:0006391","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006391","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OVERTUBULATED_LONG_BONES","geneSymbols":["ATP6V1B2","COG4","KCNH1","KCNMA1","KCNN3","LMNA","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INCREASED_DENSITY_OF_LONG_BONES":{"collection":"C5:HPO","systematicName":"M36838","pmid":"","exactSource":"HP:0006392","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006392","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_DENSITY_OF_LONG_BONES","geneSymbols":["ANO5","CA2","CSF1R","FLNA","GNAS","MTAP","SETBP1","SOST","STX16","TGFB1","TNFRSF11A","TNFSF11"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LIMITED_PRONATION_SUPINATION_OF_FOREARM":{"collection":"C5:HPO","systematicName":"M36839","pmid":"","exactSource":"HP:0006394","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006394","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIMITED_PRONATION_SUPINATION_OF_FOREARM","geneSymbols":["COLEC10","COLEC11","HOXA11","IFITM5","LMX1B","MASP1","MECOM","MET","SMAD6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BROAD_FEMORAL_NECK":{"collection":"C5:HPO","systematicName":"M36840","pmid":"","exactSource":"HP:0006429","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006429","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BROAD_FEMORAL_NECK","geneSymbols":["ACVR1","ARCN1","CANT1","CCN6","COG1","COL10A1","COMP","DYM","FZD2","MATN3","PTH1R","RAB33B","RAB3GAP2","SLC26A2","SLC39A13","TMEM53","UFSP2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PROXIMAL_FEMORAL_METAPHYSEAL_ABNORMALITY":{"collection":"C5:HPO","systematicName":"M36841","pmid":"","exactSource":"HP:0006431","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006431","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROXIMAL_FEMORAL_METAPHYSEAL_ABNORMALITY","geneSymbols":["CFAP410","COL10A1","CSPP1","DNAJC21","KIAA0586","SBDS","SRP54","TRPV4","UFSP2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PATELLAR_APLASIA":{"collection":"C5:HPO","systematicName":"M36842","pmid":"","exactSource":"HP:0006443","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006443","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PATELLAR_APLASIA","geneSymbols":["ANAPC1","BHLHA9","CDC45","CDC6","CDT1","CHRNG","DONSON","ESCO2","GMNN","KAT6B","LMBR1","LMX1B","ORC1","ORC4","ORC6","RBM8A","RECQL4","SHH","SHOX","STXBP1","TBX4","WNT7A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INCREASED_LAXITY_OF_ANKLES":{"collection":"C5:HPO","systematicName":"M36843","pmid":"","exactSource":"HP:0006460","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006460","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_LAXITY_OF_ANKLES","geneSymbols":["COL6A1","COL6A2","COL6A3","COMP","GLI3","MFN2","PYCR2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PROXIMAL_FEMORAL_EPIPHYSIOLYSIS":{"collection":"C5:HPO","systematicName":"M36844","pmid":"","exactSource":"HP:0006461","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006461","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROXIMAL_FEMORAL_EPIPHYSIOLYSIS","geneSymbols":["BRF1","DNAJC21","EFL1","PCNT","RET","RSPRY1","SBDS","SRP54"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_ALVEOLAR_RIDGES":{"collection":"C5:HPO","systematicName":"M36847","pmid":"","exactSource":"HP:0006477","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006477","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_ALVEOLAR_RIDGES","geneSymbols":["ARX","ASXL1","ATP6V1B2","BRF1","C1R","C1S","CD96","CPLANE1","CTSC","DHCR24","DHCR7","DIS3L2","DPH5","ELANE","EVC","EVC2","FAM149B1","FIG4","FTO","GJA1","GNPTAB","GNS","IRF6","KIAA0753","KIF7","LYST","NTRK1","OFD1","PDE6D","PIGA","RBM10","RERE","SETBP1","SH3BP2","SH3PXD2B","SNRPN","TBC1D24","TBX15","TCTN3","TMEM216","TOPORS","VAC14","WDR4","ZC4H2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_DENTAL_PULP_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M41334","pmid":"","exactSource":"HP:0006479","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006479","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_DENTAL_PULP_MORPHOLOGY","geneSymbols":["AXIN2","BRF1","CHD3","COL1A1","COL5A1","COL5A2","CTC1","DEAF1","DKC1","DLX3","DSPP","EDA","EDARADD","ENAM","FAM20A","FGF3","FGFR1","FLII","GALNT3","GJA1","GREM2","IFT122","IFT43","IFT52","IQSEC2","IRF6","LAMB3","LRP6","MSX1","NEK1","NF1","NHP2","NOP10","NPM1","OCRL","PARN","PAX9","PEX1","PEX6","RAI1","RTEL1","SMOC2","SUMO1","TERC","TERT","TGFA","TINF2","TP63","TYMS","USB1","WDR19","WDR35","WNT10A","WNT10B","WRAP53"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PREMATURE_LOSS_OF_TEETH":{"collection":"C5:HPO","systematicName":"M36848","pmid":"","exactSource":"HP:0006480","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006480","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PREMATURE_LOSS_OF_TEETH","geneSymbols":["AEBP1","ALPL","C1R","C1S","CAT","CDH11","CLCN7","CLPB","COL3A1","CSTB","CTSC","CYP27A1","DKC1","EDAR","EDARADD","ELANE","ERCC4","FERMT1","FIG4","GFI1","GJA1","ITGB4","KDF1","KRT14","LMNA","LRP4","MIA3","NOTCH2","NTRK1","PARN","PIGT","PLEKHM1","POLR3A","PRKD1","RBM28","RSPO1","RUNX2","SASH1","SEC23A","SH3PXD2B","SLC35C1","SNX10","SRP19","SRP54","TCIRG1","TERC","TERT","TINF2","TNFRSF11A","TNFRSF11B","TNFSF11","TP63","TRAF6","VAC14","VDR","WNT10A","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_PRIMARY_TEETH":{"collection":"C5:HPO","systematicName":"M36849","pmid":"","exactSource":"HP:0006481","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006481","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_PRIMARY_TEETH","geneSymbols":["ALPL","AXIN2","B4GALT7","BCOR","C1R","C1S","CA2","CAMK2B","CBFB","CLCN7","COL3A1","CSTB","CTSC","CTSK","DEAF1","DVL1","EDA","EDAR","EDARADD","EDNRA","EHMT1","ERCC1","ERCC4","ERCC6","ERCC8","FAM111A","FERMT1","FGFR1","FGFR2","FIG4","FLII","FLNA","GJA1","HNRNPK","IL6ST","IQSEC2","IRF6","KCNJ2","KCNJ5","KDF1","KIF7","LEMD2","LMNA","LRP6","MSX1","NDUFB11","PAX9","PCGF2","PRKD1","PTH1R","PURA","PUS7","RAB23","RAI1","RHOA","RNF113A","RUNX2","SFRP4","SMARCAL1","SNRPN","SNX10","SRCAP","STAT3","SUMO1","TCIRG1","TFAP2B","TGFA","TMCO1","TNFSF11","TRAF6","UBR1","VAC14","VDR","WNT10A","WNT10B","WNT5A","ZBTB7A","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_DENTAL_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M36850","pmid":"","exactSource":"HP:0006482","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006482","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_DENTAL_MORPHOLOGY","geneSymbols":["ABCC9","ADAMTS10","ADAMTS3","ADGRV1","ADNP","ALX4","ANAPC1","ANKRD11","ANTXR2","ARHGAP29","ARHGEF38","ARID1B","ATP6V0A2","ATP6V1B2","ATR","AXIN2","B3GALT6","B3GAT3","B3GLCT","BAZ1B","BCL11B","BCL7B","BCOR","BMP4","BRCA1","BRF1","BUD23","C1R","C1S","CACNA1C","CACNA1I","CCBE1","CCDC47","CDH1","CDH11","CDH3","CDK10","CDK13","CHD3","CHST3","CHSY1","CKAP2L","CLCN7","CLIP2","COBLL1","COL11A1","COL3A1","CREBBP","CSTB","CTC1","CTCF","CTNND1","DCHS1","DEAF1","DHCR7","DHODH","DHX37","DKC1","DLG1","DLX3","DLX4","DNAJC21","DNAJC30","DPF2","DPH2","DYNC2LI1","EDA","EDA2R","EDAR","EDARADD","EIF4H","ELN","ENAM","EP300","EVC","EVC2","EYA1","FAM20C","FARS2","FAT4","FBN1","FBXO28","FGF10","FGF3","FGFR1","FGFR2","FGFR3","FKBP6","FLII","FOXC1","GALNT3","GHR","GJA1","GJA5","GJA8","GJB2","GLI1","GRB10","GREM2","GRIA3","GTF2I","GTF2IRD1","GTF2IRD2","H4C5","HEPHL1","HRAS","HS2ST1","IDS","IDUA","IFIH1","IFT122","IFT140","IFT43","IFT52","IKBKG","IQSEC2","IRF6","KANSL1","KAT6A","KAT6B","KCNK9","KCNMA1","KDF1","KDM6A","KIAA0753","KMT2D","KRAS","KRT14","KRT71","LAMB3","LIMK1","LMBRD2","LONP1","LRP6","LTBP3","MAPK1","MAPK8IP3","MAPRE2","MBD5","MCOLN1","MED12","METTL27","MGAT2","MLXIPL","MSX1","MYO7A","NAA10","NCF1","NECTIN1","NECTIN4","NEK1","NFIX","NFKBIA","NHP2","NHS","NMNAT1","NOP10","NPM1","NRAS","OCRL","ORC1","P4HB","PACS2","PARN","PAX9","PCGF2","PCNT","PDGFRA","PDZD7","PEX1","PEX6","PIGA","PIGF","PIGL","PIK3C2A","PIK3R1","PITX2","PKP1","PLEKHM1","PLXNA1","PLXND1","POLR1B","POLR1C","POLR1D","PORCN","PQBP1","PRIM1","PRKACA","PRKACB","PRKD1","PURA","RAI1","RBBP8","RECQL4","REV3L","RFC2","RHOA","RIC1","RIN2","RMRP","RNU12","RPS6KA3","RTEL1","RUSC2","SATB1","SATB2","SCNM1","SEC23A","SH3BP2","SIX1","SLC25A24","SLC35A2","SMARCA2","SMARCAL1","SMARCD2","SMC3","SMOC1","SMOC2","SNRPN","SOX9","SRCAP","ST14","STX1A","SUMO1","TBC1D24","TBL2","TCF12","TCIRG1","TCOF1","TERC","TERT","TFAP2A","TGFA","TINF2","TMCO1","TMEM231","TMEM270","TNFRSF11A","TONSL","TP63","TRAF6","TRPS1","TSPEAR","TWIST2","TYMS","UBE3B","UBR1","USB1","USH2A","VPS13B","VPS37D","VPS51","WDR19","WDR35","WDR4","WHRN","WNT10A","WNT10B","WRAP53","ZEB2","ZNF141"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_NUMBER_OF_TEETH":{"collection":"C5:HPO","systematicName":"M36851","pmid":"","exactSource":"HP:0006483","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006483","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_NUMBER_OF_TEETH","geneSymbols":["AARS1","ACOX1","ACSL4","ACTL6B","ADAMTS2","ADAMTS3","ADNP","AKT1","ALMS1","AMMECR1","ANAPC1","ANKRD11","ANOS1","AP3B2","APC","APC2","ARHGAP29","ARHGEF38","ARL6","ARV1","ATP1A2","ATP1A3","ATP6V1A","ATP6V1B2","ATR","ATRIP","AXIN2","B3GLCT","BAZ1B","BBS1","BCL11B","BCL7B","BCOR","BLM","BMP4","BUD23","C1R","C1S","C2CD3","CACNA1A","CACNA1B","CACNA2D1","CAMTA1","CBFB","CCBE1","CCDC141","CCDC28B","CDC42BPB","CDH1","CDH11","CDH3","CDK19","CDON","CELF2","CENPE","CENPJ","CEP152","CEP85L","CFAP418","CHD7","CHSY1","CKAP2L","CLDN1","CLIP2","CLTC","CNKSR2","CNOT1","COBLL1","COL9A2","CPLX1","CREB3L1","CREBBP","CTBP1","CTC1","CTNND1","CTSC","CTSK","CUX1","CYFIP2","DALRD3","DCAF17","DCC","DDX59","DHCR7","DHDDS","DHX37","DISP1","DKC1","DLG1","DLL1","DLX3","DLX4","DNA2","DNAJC21","DNAJC30","DNM1","DPP6","DSP","DUSP6","DVL1","DVL3","DYNC2LI1","DYRK1A","EDA","EDAR","EDARADD","EEF1A2","EIF4A3","EIF4H","ELN","EP300","ERCC1","ERCC3","ERCC4","ERCC6","ERCC8","EVC","EVC2","EXT1","FAT4","FBXO28","FEZF1","FGD1","FGF10","FGF12","FGF13","FGF17","FGF3","FGF8","FGFR1","FGFR2","FGFR3","FGFRL1","FKBP6","FLNA","FLNB","FLRT3","FOXC1","FOXH1","FZD2","FZR1","GABBR2","GABRA2","GABRA5","GABRB2","GABRG2","GAS1","GDF5","GHR","GJA1","GLI1","GLI2","GNB2","GREM2","GRHL2","GRHL3","GRIN2D","GTF2I","GTF2IRD1","GTF2IRD2","HCN1","HECTD4","HESX1","HMGA2","HNRNPK","HS6ST1","HSPA9","HSPG2","HUWE1","IFT122","IFT43","IFT52","IKBKG","IL11RA","IL17RD","IL6ST","IRF6","IRX5","KCNA2","KCNB1","KCNE5","KCNH1","KCNJ2","KCNJ5","KCNMA1","KCNN3","KCTD1","KDF1","KDM6A","KIF1C","KIFBP","KMT2A","KMT2D","KREMEN1","KRT14","LAMB3","LEMD2","LEMD3","LETM1","LIMK1","LMNA","LMNB1","LRP4","LRP6","LTBP3","MAF","MAP3K7","MAPK8IP3","MBTPS2","MESD","METTL27","MID1","MLXIPL","MSX1","MSX2","MTX2","NAA10","NCF1","NDNF","NECAP1","NECTIN1","NEK1","NELFA","NEPRO","NFKBIA","NHP2","NHS","NKX2-1","NODAL","NOP10","NPM1","NSD1","NSD2","NTRK2","NUP85","NUS1","NXN","OCRL","OFD1","OTUD5","PACS2","PARN","PARS2","PAX9","PCNT","PDGFRA","PERP","PIGG","PIGL","PIK3C2A","PIK3R1","PITX2","PLCH1","PLK4","PLXND1","POLR1B","POLR1C","POLR1D","POLR3A","POLR3B","POLR3GL","POLR3K","POP1","PORCN","POU4F1","PPP1R15B","PPP2R3C","PPP3CA","PRKACA","PRKACB","PRKAR1A","PROK2","PROKR2","PTCH1","PTEN","PTH1R","PTHLH","PUF60","PUS7","RAB23","RAD21","RAD51","RBBP8","RBM28","RECQL4","REV3L","RFC2","RHOA","RIC1","RIPK4","RMRP","RNF13","ROR2","RPS23","RPS6KA3","RTEL1","RUNX2","SATB2","SCN3A","SCN8A","SCNM1","SCUBE3","SEMA3A","SETD2","SH3BP2","SHH","SIX3","SLC10A7","SLC13A5","SLC1A2","SLC25A24","SLC37A4","SLC38A3","SLC39A13","SMAD2","SMARCAL1","SMC1A","SMG8","SMOC2","SOX10","SPRY4","SRCAP","SRD5A3","STAG2","STIL","STX1A","SUFU","SUMO1","SYNGAP1","SYNJ1","SZT2","TACR3","TBL2","TBX3","TCF12","TCOF1","TDGF1","TERC","TERT","TFAP2A","TGFA","TGIF1","TINF2","TMEM270","TP63","TRAF6","TRAIP","TRAK1","TRIM37","TRIO","TRMT10A","TRPS1","TRPV3","TSPEAR","TWIST2","TYMS","UBA5","UBE3C","UBR1","USB1","VPS13B","VPS37D","WDR11","WDR19","WDR35","WNT10A","WNT10B","WNT5A","WRAP53","WWOX","XYLT1","YWHAG","ZIC2","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_AGENESIS_OF_INCISOR":{"collection":"C5:HPO","systematicName":"M36852","pmid":"","exactSource":"HP:0006485","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006485","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AGENESIS_OF_INCISOR","geneSymbols":["ARHGAP29","ARHGEF38","AXIN2","B3GLCT","BCOR","BLM","BMP4","CDC42BPB","CDH1","CDH11","COBLL1","DLG1","DLX3","DLX4","EDA","EDARADD","EIF4A3","ERCC3","FGFR1","GLI2","IRF6","LRP6","MSX1","NAA10","NECTIN1","NEK1","PAX9","PDGFRA","RIC1","RIPK4","SUMO1","TGFA","TP63","WNT10A","WNT10B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_DENTAL_ROOT_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M47114","pmid":"","exactSource":"HP:0006486","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006486","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_DENTAL_ROOT_MORPHOLOGY","geneSymbols":["AXIN2","BCOR","BRF1","CDH11","CHD3","CTC1","DEAF1","DKC1","DLX3","EDA","EDARADD","ENAM","FGF3","FGFR1","FLII","GALNT3","GJA1","GREM2","IFIH1","IFT122","IFT43","IFT52","IQSEC2","IRF6","LAMB3","LRP6","MSX1","NEK1","NHP2","NOP10","NPM1","OCRL","PARN","PAX9","PEX1","PEX6","RAI1","RTEL1","SMOC2","SUMO1","TERC","TERT","TGFA","TINF2","TONSL","TP63","TYMS","USB1","WDR19","WDR35","WNT10A","WNT10B","WRAP53"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BOWING_OF_THE_ARM":{"collection":"C5:HPO","systematicName":"M36853","pmid":"","exactSource":"HP:0006488","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006488","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BOWING_OF_THE_ARM","geneSymbols":["B2M","B3GALT6","CHST3","CILK1","COL11A1","COL2A1","FGF23","FGFR2","FGFR3","FLNA","FLNB","GDF5","GLI3","HOXA11","IFT43","IHH","KDELR2","KIAA0753","LAMA5","LBR","MBTPS2","MMP13","NPR2","P3H1","PCNT","POR","PRKG2","RBM8A","RECQL4","RIPK4","RNU4ATAC","ROR2","RSPO2","SCARF2","SHOX","SLC26A2","SP7","SPARC","TMEM67","TRIP11","TRPV4","VPS35L","WNT7A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_LOWER_LIMB_METAPHYSIS_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M36854","pmid":"","exactSource":"HP:0006490","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006490","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LOWER_LIMB_METAPHYSIS_MORPHOLOGY","geneSymbols":["AIFM1","BMP1","CFAP410","CHEK2","COL10A1","COL11A2","COMP","CSPP1","DNAJC21","EZH2","FGFR3","KIAA0586","PAM16","PHEX","RASA1","RB1","SBDS","SETBP1","SRP54","TP53","TRIP11","TRPV4","UFSP2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APLASIA_HYPOPLASIA_OF_THE_FIBULA":{"collection":"C5:HPO","systematicName":"M36855","pmid":"","exactSource":"HP:0006492","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006492","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_FIBULA","geneSymbols":["AFF3","AFF4","AMER1","ATR","BHLHA9","BMPR1B","CEP120","COG4","COL11A1","CPLANE1","DYNC2H1","EIF4A3","FLNA","FLNB","FZD2","GDF5","GPC6","IFT122","INPPL1","INTU","LMBR1","MET","PTH1R","RBM8A","SF3B4","SHOX","SLC35D1","SMOC1","SOX9","TBX15","WNT7A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APLASIA_HYPOPLASIA_INVOLVING_BONES_OF_THE_LOWER_LIMBS":{"collection":"C5:HPO","systematicName":"M36856","pmid":"","exactSource":"HP:0006493","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006493","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_INVOLVING_BONES_OF_THE_LOWER_LIMBS","geneSymbols":["ABCC9","ACVR1","ADA","ADAMTS2","ADAMTSL2","ADNP","AFF3","AFF4","AGPS","AIFM1","ALG12","ALMS1","ALOX12B","ALOXE3","ALPL","AMER1","AMMECR1","ANAPC1","APC","ARHGAP31","ARID1B","ARL6","ARL6IP6","ARSL","ASAH1","ASXL1","ATP6V1B2","ATP7A","ATR","B3GALT6","B3GLCT","BBS1","BGN","BHLHA9","BMP2","BMPR1B","BPNT2","BRD4","C12orf57","CAMK2A","CAMK2G","CANT1","CASZ1","CCBE1","CCDC28B","CCDC47","CCN6","CDC42BPB","CDC45","CDC6","CDH11","CDKL5","CDT1","CENPE","CEP120","CERT1","CFAP410","CHD4","CHD7","CHRNG","CHST11","CHST3","CHSY1","CHUK","COG1","COG4","COL11A1","COL2A1","COL3A1","COMP","COX4I1","CPLANE1","CPLX1","CTBP1","CTC1","CTSK","CUL4B","DACT1","DCHS1","DCLRE1C","DDRGK1","DHCR7","DLK1","DLL4","DLX5","DNMT3A","DOCK6","DONSON","DYM","DYNC1H1","DYNC2H1","DYNC2I1","DYNC2I2","DYNC2LI1","DYRK1A","EIF4A3","EOGT","EP300","ESCO2","EXOC6B","EXT1","EXT2","EZH2","FAM50A","FAT4","FBN1","FBXL4","FBXO11","FGD1","FGFR1","FGFR2","FGFR3","FGFRL1","FIG4","FKBP10","FLI1","FLNA","FLNB","FMR1","FN1","FZD2","GABBR2","GABRD","GALNT2","GDF5","GHR","GJA1","GJB2","GJB6","GLI3","GMNN","GNA11","GNAS","GPC3","GPC4","GPC6","GPX4","GRIP1","H4C3","HBA1","HBA2","HDAC4","HDAC6","HDAC8","HEATR3","HEPHL1","HERC2","HINT1","HNRNPR","HOXA13","HOXD13","HSPG2","HTT","HUWE1","HYLS1","IDUA","IFNGR1","IFT122","IFT140","IFT172","IFT52","IFT80","IGF1R","IHH","IL2RG","IL7R","INPPL1","INTU","IQCE","KAT6A","KAT6B","KCNAB2","KCNH1","KCNJ2","KCNJ5","KCNJ8","KCNN3","KDM4B","KDM5C","KIAA0753","KIF5C","KMT2A","KNSTRN","LAMA5","LAS1L","LBR","LETM1","LIFR","LIG4","LMBR1","LMNA","LMX1B","LRP4","LTBP3","LUZP1","LZTFL1","MAGEL2","MAP3K20","MAP3K7","MAPK8IP3","MASP1","MATN3","MBD5","MBTPS1","MECP2","MEG3","MET","MGP","MIA3","MKRN3","MMP13","MMP23B","MMP9","MSL3","MTHFS","MTX2","MYCN","NANS","NDN","NEK1","NELFA","NGLY1","NIPBL","NOG","NOTCH1","NOTCH2","NPAP1","NPR2","NSD2","NSDHL","NSUN2","NTNG1","OCA2","OFD1","ORC1","ORC4","ORC6","PAPSS2","PDE4D","PDGFRB","PDPN","PEX5","PEX7","PHF6","PHYH","PIGF","PIGG","PIGL","PIGN","PIGS","PIGV","PIK3C2A","PIK3CD","PITX1","POC1A","POLR3A","POP1","PORCN","PPIB","PPM1D","PRDM16","PRG4","PRKAR1A","PRKCZ","PRKG2","PRMT7","PTH1R","PTHLH","PUF60","PWAR1","PWRN1","RAB23","RAB33B","RAB3GAP2","RAD21","RAG1","RAG2","RBM8A","RBPJ","RECQL4","RERE","RIPK4","RMRP","RNF2","RNU4ATAC","ROBO1","ROR2","RSPRY1","RTL1","RUNX2","SALL1","SALL4","SATB1","SATB2","SERPINH1","SF3B4","SHH","SHOX","SIL1","SIM1","SIN3A","SKI","SLC10A7","SLC26A2","SLC31A1","SLC35A2","SLC35C1","SLC35D1","SLC39A13","SMAD4","SMARCA2","SMARCA4","SMC1A","SMC3","SMOC1","SNORD115-1","SNORD116-1","SNRPN","SON","SOX9","SPART","SPECC1L","SPEN","SRY","STXBP1","SUCLG1","SVBP","TAPT1","TBC1D24","TBCE","TBL1XR1","TBX15","TBX22","TBX3","TBX4","TCF4","TCTN3","TELO2","TGDS","TMEM67","TNFRSF11A","TNNT3","TONSL","TP63","TPR","TRAF3IP1","TRAPPC2","TRIP11","TRPS1","TRPV4","TRPV6","TRRAP","TTC21B","TUBB3","TWIST1","UBE2A","UBE4B","UBR7","USP7","USP9X","VAC14","VPS13B","VPS35L","WASF1","WDR19","WDR35","WDR81","WLS","WNT10B","WNT7A","XYLT1","ZMIZ1","ZMYM2","ZNF407","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APLASIA_HYPOPLASIA_INVOLVING_BONES_OF_THE_FEET":{"collection":"C5:HPO","systematicName":"M36857","pmid":"","exactSource":"HP:0006494","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006494","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_INVOLVING_BONES_OF_THE_FEET","geneSymbols":["ABCC9","ACVR1","ADA","ADAMTS2","ADAMTSL2","ADNP","ALMS1","ALOX12B","ALOXE3","APC","ARHGAP31","ARID1B","ARL6","ARSL","ASAH1","ASXL1","ATP6V1B2","B3GLCT","BBS1","BGN","BHLHA9","BMP2","BMPR1B","BPNT2","BRD4","C12orf57","CAMK2G","CANT1","CASZ1","CCBE1","CCDC28B","CCDC47","CDC42BPB","CDKL5","CENPE","CEP120","CERT1","CHD7","CHST11","CHSY1","COG1","COG4","COL11A1","COL2A1","COL3A1","COX4I1","CPLX1","CTBP1","CTSK","CUL4B","DACT1","DCHS1","DCLRE1C","DHCR7","DLK1","DLL4","DLX5","DNMT3A","DOCK6","DYM","DYNC1H1","DYNC2H1","DYNC2I1","DYNC2I2","DYNC2LI1","DYRK1A","EIF4A3","EOGT","EP300","EZH2","FAM50A","FAT4","FBN1","FBXL4","FBXO11","FGD1","FGFR1","FGFR2","FGFR3","FGFRL1","FIG4","FLI1","FLNA","FLNB","FMR1","GABBR2","GABRD","GALNT2","GDF5","GHR","GJA1","GLI3","GNAS","GPC3","GPC4","GPX4","GRIP1","H4C3","HBA1","HBA2","HDAC4","HDAC6","HDAC8","HEATR3","HEPHL1","HERC2","HINT1","HNRNPR","HOXA13","HOXD13","HSPG2","HTT","HUWE1","IFT122","IFT140","IFT172","IFT52","IFT80","IGF1R","IHH","IL2RG","IL7R","INPPL1","IQCE","KAT6A","KCNAB2","KCNH1","KCNJ2","KCNJ5","KCNJ8","KCNN3","KDM4B","KDM5C","KIAA0753","KIF5C","KMT2A","KNSTRN","LAS1L","LBR","LETM1","LIG4","LMBR1","LMNA","LRP4","LTBP3","LUZP1","LZTFL1","MAGEL2","MAP3K20","MAP3K7","MAPK8IP3","MASP1","MBD5","MECP2","MEG3","MGP","MIA3","MKRN3","MMP23B","MSL3","MYCN","NDN","NEK1","NELFA","NGLY1","NIPBL","NOG","NOTCH1","NOTCH2","NPAP1","NPR2","NSD2","NSDHL","NSUN2","NTNG1","OCA2","OFD1","PDE4D","PDGFRB","PDPN","PEX7","PHF6","PHYH","PIGF","PIGG","PIGL","PIGN","PIGS","PIGV","PIK3CD","POC1A","PORCN","PPM1D","PRDM16","PRKAR1A","PRKCZ","PRKG2","PRMT7","PTH1R","PTHLH","PUF60","PWAR1","PWRN1","RAB23","RAB33B","RAB3GAP2","RAD21","RAG1","RAG2","RBPJ","RECQL4","RERE","RIPK4","RMRP","RNF2","RNU4ATAC","ROBO1","ROR2","RSPRY1","RTL1","SALL1","SALL4","SATB1","SATB2","SF3B4","SHOX","SIL1","SIM1","SIN3A","SKI","SLC26A2","SLC35C1","SMAD4","SMARCA2","SMARCA4","SMC1A","SMC3","SMOC1","SNORD115-1","SNORD116-1","SNRPN","SON","SOX9","SPART","SPECC1L","SPEN","SRY","SVBP","TBC1D24","TBCE","TBL1XR1","TBX22","TBX3","TCF4","TELO2","TGDS","TNNT3","TONSL","TP63","TPR","TRIP11","TRPS1","TRPV4","TRRAP","TTC21B","TUBB3","TWIST1","UBE2A","UBE4B","USP7","USP9X","VAC14","VPS13B","VPS35L","WASF1","WDR19","WDR35","WDR81","WLS","WNT10B","WNT7A","ZMIZ1","ZMYM2","ZNF407"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APLASIA_HYPOPLASIA_OF_THE_ULNA":{"collection":"C5:HPO","systematicName":"M36858","pmid":"","exactSource":"HP:0006495","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006495","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_ULNA","geneSymbols":["APC","B2M","BHLHA9","BMPR1B","BRCA1","BRCA2","BRIP1","CCDC8","CHD7","CHST3","COL2A1","CUL7","DHODH","DYNC2H1","ERCC4","ESCO2","EXOC6B","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FGFR2","FLNB","GDF5","GSC","IHH","JAG1","LMBR1","LRP4","MAD2L2","NOG","OBSL1","PALB2","PDE4D","PIGT","PRKAR1A","RAD51","RAD51C","RBM8A","RECQL4","RFWD3","ROR2","RPL26","SALL4","SCARF2","SF3B4","SHOX","SLX4","TBX3","TBX5","UBE2T","VPS35L","WNT7A","XRCC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APLASIA_HYPOPLASIA_INVOLVING_BONES_OF_THE_UPPER_LIMBS":{"collection":"C5:HPO","systematicName":"M36859","pmid":"","exactSource":"HP:0006496","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006496","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_INVOLVING_BONES_OF_THE_UPPER_LIMBS","geneSymbols":["ABCA12","ABCC9","ACAN","ACP5","ACTL6B","ACVR1","ADA2","ADAMTS10","ADAMTSL2","ADNP","AFF4","AGPS","AIFM1","ALDH18A1","ALG12","ALG13","ALG6","ALMS1","ALOX12B","ALOXE3","ANAPC1","ANKRD11","ANTXR2","AP1G1","APC","ARHGAP31","ARID1A","ARID1B","ARID2","ARSL","ARX","ASAH1","ASPH","ASXL2","ATP6V1B2","ATP7A","ATR","B2M","B3GALT6","B3GLCT","BCOR","BCR","BGN","BHLHA9","BICRA","BMP2","BMP4","BMPR1B","BPNT2","BPTF","BRCA1","BRCA2","BRD4","BRF1","BRIP1","BTRC","CACNA2D1","CAMK2G","CAMTA1","CANT1","CASK","CBFB","CCBE1","CCDC22","CCDC8","CCNQ","CD96","CDC42BPB","CDH11","CDK10","CDKL5","CDKN1C","CENPE","CEP152","CHD7","CHN1","CHRNA1","CHRND","CHRNG","CHST11","CHST3","CHSY1","CHUK","CLCN7","CNOT2","CNOT3","COG1","COG4","COL10A1","COL11A1","COL11A2","COL25A1","COL2A1","COL3A1","COL9A2","COL9A3","COMP","COX4I1","CPLX1","CREBBP","CRIPT","CRKL","CRLF1","CSGALNACT1","CTBP1","CTNND2","CTSK","CUL3","CUL4B","CUL7","CWC27","DCHS1","DDR2","DHCR7","DHODH","DLK1","DLL4","DLX5","DLX6","DMXL2","DNMT3A","DOCK6","DONSON","DPF2","DPH1","DPH2","DPM1","DVL1","DVL3","DYM","DYNC1H1","DYNC2H1","DYNC2I1","DYNC2I2","DYNC2LI1","EDA","EDA2R","EIF2AK3","EIF4A3","EN1","EOGT","EP300","EPS15L1","ERCC4","ESCO2","EVC","EVC2","EXOC6B","EXT1","EXT2","EXTL3","FAM50A","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FAT4","FBN1","FBXL3","FBXO11","FBXO28","FBXW4","FERMT1","FGD1","FGF10","FGF16","FGF9","FGFR1","FGFR2","FGFR3","FGFRL1","FIG4","FKBP10","FLNA","FLNB","FMR1","FN1","FRAS1","FTSJ1","FZD2","GABBR2","GALNT2","GATA1","GDF5","GGCX","GJA1","GJA5","GJA8","GLI1","GLI3","GMNN","GNAO1","GNAS","GNAS-AS1","GNB2","GNPAT","GNPTAB","GPC3","GPC4","GPC6","GPX4","GRIN1","GRM7","GSC","HDAC4","HDAC6","HDAC8","HEATR3","HERC2","HESX1","HHAT","HMGA2","HNRNPR","HOXA13","HOXD13","HPGD","HTT","HUWE1","HYLS1","IFT122","IFT140","IFT43","IFT52","IFT57","IFT80","IFT81","IGF1R","IGF2","IHH","IKBKG","INPP5K","INPPL1","INTU","IRX5","JAG1","KAT6B","KCNA1","KCNH1","KCNJ2","KCNJ5","KCNJ8","KCNN3","KDM1A","KDM4B","KDM5C","KDM6A","KIAA0753","KIF15","KIF21A","KIF22","KIF5C","KIFBP","KLHL15","KMT2A","KMT2D","KNSTRN","KRAS","LAMA5","LAS1L","LBR","LETM1","LHX3","LHX4","LIG4","LMBR1","LMNA","LMNB2","LONP1","LRP4","LTBP2","LTBP3","MACROH2A1","MAD2L2","MAFB","MAGEL2","MAP3K7","MAPK1","MAPK8IP3","MAPRE2","MASP1","MATN3","MBD5","MCTP2","MECOM","MECP2","MED12","MEG3","MEGF8","MEIS2","MGP","MIR140","MIR17HG","MKRN3","MMP13","MMP9","MRPS28","MSL3","MTFMT","MTHFS","MTOR","MYCN","MYH3","MYSM1","NALCN","NANS","NDN","NEK1","NELFA","NEPRO","NEUROD2","NFIX","NGLY1","NHS","NIN","NIPBL","NOG","NOTCH1","NOTCH2","NPAP1","NPR2","NSD2","NSDHL","NSUN2","NTNG1","NXN","OBSL1","OCA2","OFD1","ORC1","P3H1","PALB2","PCGF2","PCNT","PCYT1A","PDE3A","PDE4D","PDGFRB","PEX5","PEX7","PGAP2","PGAP3","PHF6","PHOX2A","PHYH","PIGB","PIGF","PIGG","PIGL","PIGN","PIGO","PIGP","PIGQ","PIGS","PIGT","PIGV","PIGW","PIGY","PIK3C2A","PIK3CD","PIK3R1","PITX1","PKDCC","PLAG1","PLXND1","PNKP","POC1A","POLA1","POLR3A","POR","PORCN","POU1F1","PPM1D","PPP2R3C","PRIM1","PRKACA","PRKACB","PRKAR1A","PRKG2","PRMT7","PROP1","PSMD12","PTCH1","PTDSS1","PTH1R","PTHLH","PUF60","PUM1","PWAR1","PWRN1","RAB33B","RAB3GAP2","RAC1","RAD21","RAD51","RAD51C","RAI1","RB1","RBBP8","RBM10","RBM8A","RBPJ","RECQL4","REV3L","RFWD3","RIPK4","RMRP","RNF2","RNU4ATAC","ROBO1","ROR2","RPL10","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS6KA3","RPS7","RSPO2","RSPRY1","RTL1","RUNX2","RYR3","SALL4","SATB1","SATB2","SCARF2","SCN1B","SCN2A","SCUBE3","SEM1","SEMA5A","SETBP1","SF3B4","SH3PXD2B","SHH","SHOX","SIK1","SIL1","SIM1","SIN3A","SLC25A22","SLC25A24","SLC26A2","SLC32A1","SLC39A13","SLC6A17","SLCO2A1","SLX4","SMAD4","SMARCA2","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SMC1A","SMC3","SMOC1","SNIP1","SNORD115-1","SNORD116-1","SNRPB","SNRPN","SON","SOX11","SOX4","SOX9","SPECC1L","SRCAP","SRY","STAMBP","STX16","SUCLG1","SVBP","TBC1D24","TBCE","TBL1XR1","TBX3","TBX5","TCF4","TCTN3","TELO2","TFAP2A","TFAP2B","TGDS","TGFB1","TMEM53","TNFRSF11B","TNNI2","TNNT3","TONSL","TP63","TPM2","TRIM8","TRIO","TRIP11","TRPM3","TRPS1","TRPV4","TSR2","TUBA1A","TUBB2B","TUBB3","TWIST1","TWIST2","UBE2T","UNC80","USP7","USP9X","VAC14","VPS13B","VPS35L","WAC","WDR19","WDR35","WDR81","WIPI2","WNT10B","WNT5A","WNT7A","WRN","XRCC2","XYLT1","YY1AP1","ZBTB20","ZIC3","ZMIZ1","ZMPSTE24","ZMYM2","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APLASIA_HYPOPLASIA_OF_THE_PATELLA":{"collection":"C5:HPO","systematicName":"M36860","pmid":"","exactSource":"HP:0006498","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006498","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_PATELLA","geneSymbols":["ANAPC1","ARID1B","BHLHA9","CDC45","CDC6","CDT1","CHRNG","DONSON","ESCO2","FKBP10","GDF5","GJB2","GJB6","GMNN","KAT6B","LMBR1","LMX1B","ORC1","ORC4","ORC6","PITX1","PRMT7","RBM8A","RECQL4","SHH","SHOX","SOX9","STXBP1","TBX4","UBR7","WNT7A","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_LOWER_LIMB_EPIPHYSIS_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M36861","pmid":"","exactSource":"HP:0006500","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006500","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_LOWER_LIMB_EPIPHYSIS_MORPHOLOGY","geneSymbols":["ACAN","ADAMTS2","ADAMTSL2","AIFM1","ARSL","ATP7A","B3GALT6","BRF1","CANT1","CCN6","CDC6","CHST3","COG1","COL10A1","COL11A1","COL11A2","COL1A1","COL1A2","COL2A1","COL9A1","COL9A2","COL9A3","COMP","CREBBP","CSPP1","DLK1","DNAJC21","DUOX2","DUOXA2","DVL1","DVL3","DYM","EFL1","EIF2AK3","EP300","EXT1","EXTL3","FN1","FZD2","GLB1","GNPTG","HESX1","HS2ST1","HSPG2","IFT140","IHH","INPP5K","IYD","KIAA0586","KIF22","LHX3","LHX4","MATN3","MEG3","NEK9","PCNT","PEX5","PIK3C2A","PLOD3","POU1F1","PROP1","RAB3GAP2","RAD21","RET","RINT1","RNU4ATAC","RPL13","RSPRY1","RTL1","SBDS","SIL1","SKIC3","SLC26A2","SLC2A10","SLC39A13","SLC5A5","SMARCAL1","SRCAP","SRP54","TBC1D2B","TBX4","TG","TINF2","TONSL","TPO","TRAPPC2","TREX1","TRPS1","TRPV4","TSHB","TSHR","UFSP2","UNC45A","WNT5A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APLASIA_HYPOPLASIA_OF_THE_RADIUS":{"collection":"C5:HPO","systematicName":"M36862","pmid":"","exactSource":"HP:0006501","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006501","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_RADIUS","geneSymbols":["AFF4","ALG12","APC","ATR","BRCA1","BRCA2","BRIP1","CCNQ","CHD7","CHN1","DHCR7","DHODH","DONSON","EIF4A3","ERCC4","ESCO2","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FGF10","FGFR1","FGFR2","FGFR3","FKBP10","FLNB","GDF5","GLI3","HOXD13","IFT81","IHH","LMBR1","LRP4","MACROH2A1","MAD2L2","MAFB","MMP13","MMP9","MYH3","NALCN","NIPBL","NPR2","PALB2","PDE4D","PITX1","PLXND1","PRKAR1A","RAD51","RAD51C","RBM10","RBM8A","RECQL4","REV3L","RFWD3","RIPK4","ROR2","RPL26","RPS19","SALL4","SF3B4","SHH","SHOX","SLX4","TBX3","TBX5","TGFB1","TNNI2","TNNT3","TPM2","TRIO","TRIP11","UBE2T","WNT7A","XRCC2","ZIC3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APLASIA_HYPOPLASIA_INVOLVING_THE_CARPAL_BONES":{"collection":"C5:HPO","systematicName":"M36863","pmid":"","exactSource":"HP:0006502","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006502","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_INVOLVING_THE_CARPAL_BONES","geneSymbols":["ALDH18A1","COMP","DYM","EIF2AK3","EXOC6B","GNPTAB","KIF22","LMBR1","NANS","RBM8A","RECQL4","RSPRY1","SALL4","TRPV4","WNT7A","XRCC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APLASIA_HYPOPLASIA_INVOLVING_FOREARM_BONES":{"collection":"C5:HPO","systematicName":"M36864","pmid":"","exactSource":"HP:0006503","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006503","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_INVOLVING_FOREARM_BONES","geneSymbols":["AFF4","ALG12","APC","ATR","B2M","BHLHA9","BMPR1B","BRCA1","BRCA2","BRIP1","CCDC8","CCNQ","CHD7","CHN1","CHST3","COL2A1","CUL7","DHCR7","DHODH","DONSON","DYNC2H1","EIF4A3","ERCC4","ESCO2","EXOC6B","EXT1","EXT2","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FGF10","FGFR1","FGFR2","FGFR3","FKBP10","FLNB","GDF5","GLI3","GSC","HOXD13","IFT81","IHH","JAG1","LMBR1","LRP4","MACROH2A1","MAD2L2","MAFB","MMP13","MMP9","MYH3","NALCN","NIPBL","NOG","NPR2","OBSL1","PALB2","PDE4D","PIGT","PITX1","PLXND1","PRKAR1A","RAD51","RAD51C","RBM10","RBM8A","RECQL4","REV3L","RFWD3","RIPK4","ROR2","RPL26","RPS19","SALL4","SCARF2","SF3B4","SHH","SHOX","SLX4","TBX3","TBX5","TGFB1","TNNI2","TNNT3","TPM2","TRIO","TRIP11","UBE2T","VPS35L","WNT7A","XRCC2","ZIC3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_LIMB_EPIPHYSIS_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M36865","pmid":"","exactSource":"HP:0006505","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006505","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LIMB_EPIPHYSIS_MORPHOLOGY","geneSymbols":["ACAN","ADAMTS2","ADAMTSL2","AIFM1","ARSL","ATP7A","ATR","B3GALT6","BGN","BMPR1B","BPNT2","BRF1","CANT1","CCN6","CDC6","CHST3","COG1","COG4","COL10A1","COL11A1","COL11A2","COL1A1","COL1A2","COL2A1","COL9A1","COL9A2","COL9A3","COMP","CPLX1","CREBBP","CSPP1","CTBP1","DLK1","DNAJC21","DUOX2","DUOXA2","DVL1","DVL3","DYM","EFL1","EIF2AK3","EP300","ERCC6","ERCC8","EVC","EVC2","EXT1","EXTL3","FGFR3","FGFRL1","FLNA","FLNB","FN1","FZD2","GDF5","GLB1","GNPAT","GNPTG","GPX4","HESX1","HS2ST1","HSPG2","IFIH1","IFT140","IFT172","IFT52","IHH","INPP5K","IYD","KCNH1","KIAA0586","KIF15","KIF22","LETM1","LHX3","LHX4","MATN3","MEG3","MGP","MIA3","MRPS28","NEK1","NEK9","NKX3-2","NPR2","NPR3","NSD2","PCNT","PEX5","PIK3C2A","PLOD3","POR","POU1F1","PRKAR1A","PROP1","RAB23","RAB3GAP2","RAD21","RET","RINT1","RMRP","RNU4ATAC","RPL13","RPS6KA3","RSPRY1","RTL1","RUNX2","SALL1","SBDS","SIL1","SKIC3","SLC26A2","SLC2A10","SLC39A13","SLC5A5","SMARCAL1","SRCAP","SRP54","TBC1D2B","TBX4","TG","TINF2","TONSL","TPO","TRAPPC2","TREX1","TRIP11","TRPS1","TRPV4","TSHB","TSHR","UFSP2","UNC45A","WNT5A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APLASIA_HYPOPLASIA_OF_THE_HUMERUS":{"collection":"C5:HPO","systematicName":"M36866","pmid":"","exactSource":"HP:0006507","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006507","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_HUMERUS","geneSymbols":["AGPS","ALG12","ATP7A","ESCO2","FANCB","FLNA","FLNB","FZD2","GDF5","GNPAT","GPC6","GSC","IFT122","IHH","KIAA0753","LMBR1","LONP1","MTHFS","MYSM1","NOG","PEX5","POLR3A","RBM8A","RECQL4","RNU4ATAC","SALL4","SNRPB","SUCLG1","TBX3","TBX5","TGDS","TNFRSF11B","ZIC3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_TIBIAL_EPIPHYSES":{"collection":"C5:HPO","systematicName":"M43326","pmid":"","exactSource":"HP:0006508","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006508","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_TIBIAL_EPIPHYSES","geneSymbols":["COL11A1","COL2A1","DLK1","MEG3","RTL1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CHRONIC_PULMONARY_OBSTRUCTION":{"collection":"C5:HPO","systematicName":"M36867","pmid":"","exactSource":"HP:0006510","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006510","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHRONIC_PULMONARY_OBSTRUCTION","geneSymbols":["ALMS1","ARVCF","BLM","CARMIL2","COMT","CTLA4","CYBA","CYBB","CYBC1","DNAAF4","GLA","GP1BB","HIRA","HLA-DPA1","HLA-DPB1","HMOX1","JMJD1C","MCIDAS","MMP1","MPEG1","NCF1","NCF2","NCF4","NFKB1","PRTN3","PTPN22","RAC2","RREB1","RSPH1","RSPH3","RSPH9","SEC24C","SERPINA1","TBX1","THSD4","UFD1","WAS","WIPF1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LARYNGEAL_STRIDOR":{"collection":"C5:HPO","systematicName":"M36868","pmid":"","exactSource":"HP:0006511","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006511","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LARYNGEAL_STRIDOR","geneSymbols":["ASAH1","BRF1","BTD","PLP1","TAF1","UBE3B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INTERSTITIAL_PNEUMONITIS":{"collection":"C5:HPO","systematicName":"M36869","pmid":"","exactSource":"HP:0006515","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006515","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTERSTITIAL_PNEUMONITIS","geneSymbols":["ABCA3","DOCK2","FOXP3","HCK","HLA-DPB1","IL2RB","PLCG2","RAG1","SFTPA1","SFTPB","SFTPC","STAT3","STAT5B","TERC","TERT","TINF2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INTRAALVEOLAR_PHOSPHOLIPID_ACCUMULATION":{"collection":"C5:HPO","systematicName":"M41336","pmid":"","exactSource":"HP:0006517","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006517","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTRAALVEOLAR_PHOSPHOLIPID_ACCUMULATION","geneSymbols":["ABCA3","CSF2RA","CSF2RB","HLA-DRB1","MARS1","OAS1","SFTPB","SFTPC","SLC7A7"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ALVEOLAR_CELL_CARCINOMA":{"collection":"C5:HPO","systematicName":"M43327","pmid":"","exactSource":"HP:0006519","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006519","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ALVEOLAR_CELL_CARCINOMA","geneSymbols":["BRAF","CASP8","CYP2A6","EGFR","ERBB2","ERCC6","FASLG","IRF1","KRAS","MAP3K8","MUC5B","PIK3CA","PPP2R1B","PRKN","SFTPA2","SFTPC","SLC22A18","TERT"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PROGRESSIVE_PULMONARY_FUNCTION_IMPAIRMENT":{"collection":"C5:HPO","systematicName":"M36870","pmid":"","exactSource":"HP:0006520","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006520","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROGRESSIVE_PULMONARY_FUNCTION_IMPAIRMENT","geneSymbols":["AKT1","BAP1","NF2","PDGFB","PIK3CA","SLC34A2","SMARCB1","SMARCE1","SMO","SMPD1","SUFU","TERT","TRAF7"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PULMONARY_LYMPHANGIECTASIA":{"collection":"C5:HPO","systematicName":"M41337","pmid":"","exactSource":"HP:0006521","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006521","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PULMONARY_LYMPHANGIECTASIA","geneSymbols":["ADAMTS3","CCBE1","FAT4","FOXF1","SOX18"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CHRONIC_LUNG_DISEASE":{"collection":"C5:HPO","systematicName":"M36871","pmid":"","exactSource":"HP:0006528","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006528","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHRONIC_LUNG_DISEASE","geneSymbols":["AFF4","BLM","CDON","CFTR","CSPP1","CTCF","DISP1","DLL1","FCGR2A","FGF8","FGFR1","FOXE1","FOXH1","GAS1","GLI2","HABP2","ITCH","KIAA0586","LAT","LRBA","LRRC56","MINPP1","NODAL","PEPD","PIGY","PLCH1","PRIM1","PTCH1","RIPK1","SERPINH1","SFTPB","SHH","SIX3","SMC1A","STAG2","STIL","TDGF1","TGFB1","TGIF1","THSD1","ZIC2","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_PULMONARY_INTERSTITIAL_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M36872","pmid":"","exactSource":"HP:0006530","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006530","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PULMONARY_INTERSTITIAL_MORPHOLOGY","geneSymbols":["ABCA3","AGR2","AP3B1","AP3D1","ASAH1","ATP11A","BACH2","BMP15","BMPR2","BNC1","BTK","BTNL2","CASP10","CAV1","CCDC103","CCDC39","CCDC40","CCDC65","CCN2","CCNO","CCR6","CFAP221","CFAP298","CFAP300","CFAP74","COL3A1","COPA","CSF2RA","CSF2RB","CTC1","CTLA4","CYBC1","DKC1","DNAAF1","DNAAF11","DNAAF2","DNAAF3","DNAAF4","DNAAF5","DNAAF6","DNAH1","DNAH11","DNAH5","DNAH9","DNAI1","DNAI2","DNAJB13","DNAJB4","DNAL1","DOCK2","DPP9","DRC1","DSP","EHHADH","EIF2AK4","ERF","FAM111B","FAM13A","FARSA","FARSB","FAS","FASLG","FOXJ1","FOXP3","FSHR","GAS2L2","GAS8","GATM","GBA1","HCK","HLA-B","HLA-DPA1","HLA-DPB1","HLA-DRB1","HPS1","HPS4","HPS6","HYDIN","IL1RN","IL2RA","IL2RB","IRF5","ITGA3","KIAA0319L","LRRC56","MARS1","MCIDAS","MRPS22","MSH4","MUC5B","NAF1","NDUFAF6","NEK10","NHLRC2","NHP2","NKX2-1","NME5","NME8","NOP10","NPC2","NR5A1","NSMCE3","NUP107","ODAD1","ODAD2","ODAD3","ODAD4","OFD1","PAK2","PARN","PIK3CG","PLCG2","PLEC","POLR3H","PRKCD","PRTN3","PSMC3IP","PTPN22","RAC2","RAG1","RASGRP1","RCBTB1","RNF168","RPA1","RPGR","RSPH1","RSPH3","RSPH4A","RSPH9","RTEL1","SCARB2","SFTPA1","SFTPA2","SFTPB","SFTPC","SLC34A1","SLC34A2","SMPD1","SP110","SPAG1","SPEF2","SPIDR","STAT3","STAT5B","STING1","STK36","STN1","STXBP2","TERC","TERT","THOC2","TINF2","TOM1","TP53","TTC12","UNC119","ZCCHC8","ZMYND10","ZNFX1","ZSWIM7"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RECURRENT_PNEUMONIA":{"collection":"C5:HPO","systematicName":"M36873","pmid":"","exactSource":"HP:0006532","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006532","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_PNEUMONIA","geneSymbols":["AASS","ADA","ALG12","ALMS1","AP3B1","ARPC1B","B3GALT6","BLNK","BTK","C3","C4B","CARMIL2","CAVIN1","CCDC39","CCDC40","CD19","CD247","CD27","CD3D","CD3E","CD79B","CFAP410","CFTR","CLPB","COL11A2","CR2","CXCR4","CYBA","CYBB","CYBC1","DDR2","DNAAF4","DNAH11","DOCK2","DOCK8","DRC1","DZIP1L","EFEMP2","EGFR","ERCC6","EXTL3","FBLN5","FBXW7","FCGR2A","FCHO1","FMO3","GALNS","GAS8","GNPTAB","HYDIN","ICOS","IDH1","IDS","IFIH1","IGBP1","IGHG2","IGHM","IGKC","IGLL1","IL21R","IL2RG","IL6ST","JAK3","KCNJ6","KPTN","LAT","LEP","LMNB1","LRBA","LTBP1","LTBP4","MASP2","MED25","MEGF10","MTHFD1","NBN","NCF1","NCF2","NFKB1","NFKB2","NKX2-1","NME5","ODAD1","ODAD2","ODAD4","ORC6","P4HTM","PEPD","PGM3","PIK3CD","PKHD1","PKP1","PLOD1","POLA1","PURA","RAC1","RAC2","RELB","RFX7","RNF125","RNF168","RNU4ATAC","SERPINH1","SETBP1","SFTPC","SIAH1","SLC35C1","SMARCA2","SMARCD2","SREBF1","STAT3","STK36","STK4","TBCD","TBX1","TCF3","TGFB1","TK2","TNFRSF11A","TNFRSF13B","TNFRSF13C","TONSL","UNC119","USB1","USP26","VPS33A","WAS","WDR1","WDR19","WDR35","ZBTB7A","ZNF341","ZNFX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RECURRENT_INTRAPULMONARY_HEMORRHAGE":{"collection":"C5:HPO","systematicName":"M36874","pmid":"","exactSource":"HP:0006535","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006535","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_INTRAPULMONARY_HEMORRHAGE","geneSymbols":["COL3A1","CTLA4","HLA-DPA1","HLA-DPB1","PRTN3","PTPN22","WAS","WIPF1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_AIRWAY_OBSTRUCTION":{"collection":"C5:HPO","systematicName":"M36875","pmid":"","exactSource":"HP:0006536","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006536","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AIRWAY_OBSTRUCTION","geneSymbols":["ACTC1","AHDC1","ALMS1","APC","ARVCF","BLM","BTNL2","CARMIL2","CCDC103","CCDC39","CCDC40","CCDC65","CCNO","CEACAM3","CEACAM6","CFAP221","CFAP298","CFAP300","CFAP74","CFTR","CITED2","CLCA4","COL11A1","COMT","CTLA4","CYBA","CYBB","CYBC1","DCTN4","DDRGK1","DNAAF1","DNAAF11","DNAAF2","DNAAF3","DNAAF4","DNAAF5","DNAAF6","DNAH1","DNAH11","DNAH5","DNAH9","DNAI1","DNAI2","DNAJB13","DNAL1","DNASE1L3","DRC1","EDNRA","ENG","F12","FGFR2","FGFR3","FOXJ1","GAS2L2","GAS8","GATA4","GATA6","GCLC","GLA","GNE","GP1BB","GSTM3","GUSB","HFE","HIRA","HLA-DPA1","HLA-DPB1","HLA-DRB1","HMOX1","HYDIN","IDS","JMJD1C","KCNJ6","KCNN4","KIF22","LMNA","LRRC56","MCIDAS","MGP","MIF","MMP1","MPEG1","MYH6","NCF1","NCF2","NCF4","NEK10","NFIX","NFKB1","NKX2-5","NME5","NME8","ODAD1","ODAD2","ODAD3","ODAD4","OFD1","POGLUT1","POR","PRTN3","PTPN22","RAC2","RPGR","RREB1","RSPH1","RSPH3","RSPH4A","RSPH9","SCNN1A","SCNN1B","SCNN1G","SEC24C","SERPINA1","SH3BP2","SLC11A1","SLC26A9","SLC6A14","SLC9A3","SOX9","SPAG1","SPEF2","STK36","STX1A","TBX1","TBX20","TGFB1","THSD4","TLL1","TTC12","UFD1","VPS33A","WAS","WIPF1","XPNPEP2","ZMPSTE24","ZMYND10","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RECURRENT_BRONCHOPULMONARY_INFECTIONS":{"collection":"C5:HPO","systematicName":"M36876","pmid":"","exactSource":"HP:0006538","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006538","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_BRONCHOPULMONARY_INFECTIONS","geneSymbols":["AARS1","CARS1","CFTR","ERCC2","ERCC3","FCGR2A","GTF2E2","GTF2H5","LAMTOR2","MPLKIP","RNF113A","TARS1","TGFB1","USB1","VPS33A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CARDIORESPIRATORY_ARREST":{"collection":"C5:HPO","systematicName":"M36877","pmid":"","exactSource":"HP:0006543","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006543","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CARDIORESPIRATORY_ARREST","geneSymbols":["ADGRG6","COL2A1","DDC","GET3","GPX4","KIT","LAMP2","MYL2","SLC25A20","SLC2A10","TSPYL1","TXNDC15"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_UNILATERAL_PRIMARY_PULMONARY_DYSGENESIS":{"collection":"C5:HPO","systematicName":"M36878","pmid":"","exactSource":"HP:0006549","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006549","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UNILATERAL_PRIMARY_PULMONARY_DYSGENESIS","geneSymbols":["DGCR2","DGCR6","DGCR8","ESS2","TBX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ACUTE_HEPATIC_FAILURE":{"collection":"C5:HPO","systematicName":"M36879","pmid":"","exactSource":"HP:0006554","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006554","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACUTE_HEPATIC_FAILURE","geneSymbols":["ACAD9","ATP7B","CACNA1S","CALR","CYC1","EIF2AK3","F5","FAH","GFM1","GPR35","HADH","HLA-B","IKZF1","IL18BP","ITCH","JAK2","KRT18","LARS1","LIPA","MEFV","MPV17","MST1","NBAS","POLG","POLG2","PORCN","RINT1","RYR1","SCYL1","SEMA4D","SH2D1A","TCF4","TRMU","XIAP","ZNFX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_POLYCYSTIC_LIVER_DISEASE":{"collection":"C5:HPO","systematicName":"M36880","pmid":"","exactSource":"HP:0006557","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006557","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POLYCYSTIC_LIVER_DISEASE","geneSymbols":["ALG5","ALG9","BICC1","DNAJB11","GANAB","IFT140","LRP5","PKD1","PKD2","PRKCSH","SEC63"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_VIRAL_HEPATITIS":{"collection":"C5:HPO","systematicName":"M36882","pmid":"","exactSource":"HP:0006562","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006562","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VIRAL_HEPATITIS","geneSymbols":["APC","AXIN1","BTK","CASP8","CIITA","CTNNB1","IGF2R","IGHG2","IGKC","MET","PDGFRL","PIK3CA","RFX5","RFXANK","RFXAP","TP53"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MALFORMATION_OF_THE_HEPATIC_DUCTAL_PLATE":{"collection":"C5:HPO","systematicName":"M46116","pmid":"","exactSource":"HP:0006563","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006563","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MALFORMATION_OF_THE_HEPATIC_DUCTAL_PLATE","geneSymbols":["B9D2","DCDC2","IFT122","MKS1","NEK8","NPHP3","TMEM67","ZFYVE19"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INCREASED_HEPATOCELLULAR_LIPID_DROPLETS":{"collection":"C5:HPO","systematicName":"M47115","pmid":"","exactSource":"HP:0006565","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006565","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_HEPATOCELLULAR_LIPID_DROPLETS","geneSymbols":["LRPPRC","MT-TN","MT-TS1","SAR1B","SURF1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INCREASED_HEPATIC_GLYCOGEN_CONTENT":{"collection":"C5:HPO","systematicName":"M41338","pmid":"","exactSource":"HP:0006568","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006568","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_HEPATIC_GLYCOGEN_CONTENT","geneSymbols":["AKT2","FARS2","FOCAD","HNF4A","PGM1","PHKB","PHKG2","PYGL","SDHA","SLC2A2","SLC37A4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_REDUCED_NUMBER_OF_INTRAHEPATIC_BILE_DUCTS":{"collection":"C5:HPO","systematicName":"M47116","pmid":"","exactSource":"HP:0006571","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006571","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_NUMBER_OF_INTRAHEPATIC_BILE_DUCTS","geneSymbols":["DCDC2","JAG1","LMBRD1","PEX14","TMEM67"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SUBACUTE_PROGRESSIVE_VIRAL_HEPATITIS":{"collection":"C5:HPO","systematicName":"M36884","pmid":"","exactSource":"HP:0006572","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006572","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUBACUTE_PROGRESSIVE_VIRAL_HEPATITIS","geneSymbols":["APC","AXIN1","CASP8","CTNNB1","IGF2R","MET","PDGFRL","PIK3CA","TP53"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PROLONGED_NEONATAL_JAUNDICE":{"collection":"C5:HPO","systematicName":"M36885","pmid":"","exactSource":"HP:0006579","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006579","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROLONGED_NEONATAL_JAUNDICE","geneSymbols":["ADAMTS13","ADAR","AKR1D1","AMACR","APC2","ARL13B","ATP6AP1","ATP7A","CASK","CCDC115","CDAN1","CPOX","CTCF","CYP27A1","DUOX2","DUOXA2","EPB41","G6PD","GALK1","GALM","GH1","GYPC","HESX1","HYOU1","IFIH1","IYD","JAG1","KMT2D","KMT2E","LHX3","LHX4","LSM11","MED12","MPV17","NPC1","NPC2","NSD1","PARS2","PEPD","PEX1","PEX10","PKLR","POU1F1","PROP1","PRPS1","RHAG","RNASEH2A","RNASEH2B","RNASEH2C","RNU4ATAC","RNU7-1","SAMHD1","SETD2","SLC10A1","SLC16A2","SLC37A4","SLC44A1","SLC51B","SLC5A5","SMPD1","SPOP","SPTA1","SPTB","TBX19","TG","TPI1","TPO","TREX1","TRHR","TSHB","TSHR","TTC26","UGT1A1","UNC45A","YARS1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PORTAL_FIBROSIS":{"collection":"C5:HPO","systematicName":"M36886","pmid":"","exactSource":"HP:0006580","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006580","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PORTAL_FIBROSIS","geneSymbols":["ABCB4","ABCD3","ADK","ARG1","ATP7B","CC2D2A","CEP83","DCDC2","MYO5B","PHKA2","PHKG2","PYGL","RPGRIP1L","SLC25A13","UNC45A","WDR35"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DIAPHRAGMATIC_PARALYSIS":{"collection":"C5:HPO","systematicName":"M36888","pmid":"","exactSource":"HP:0006597","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006597","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DIAPHRAGMATIC_PARALYSIS","geneSymbols":["BAG3","GAA","IGHMBP2","MEGF10","MORC2","REEP1","TPI1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABSENT_STERNAL_OSSIFICATION":{"collection":"C5:HPO","systematicName":"M36890","pmid":"","exactSource":"HP:0006628","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006628","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_STERNAL_OSSIFICATION","geneSymbols":["FIG4","ORC1","ORC6","SOX9","VAC14"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MULTIPLE_RIB_FRACTURES":{"collection":"C5:HPO","systematicName":"M46117","pmid":"","exactSource":"HP:0006640","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006640","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MULTIPLE_RIB_FRACTURES","geneSymbols":["CREB3L1","CRTAP","SERPINH1","TAPT1","TNFRSF11A","TRIP11"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_THORACIC_DYSPLASIA":{"collection":"C5:HPO","systematicName":"M36891","pmid":"","exactSource":"HP:0006644","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006644","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THORACIC_DYSPLASIA","geneSymbols":["DYNC2I1","DYNC2I2","IFT172","NEK1","WDR19","WDR35"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_THIN_CLAVICLES":{"collection":"C5:HPO","systematicName":"M36892","pmid":"","exactSource":"HP:0006645","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006645","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THIN_CLAVICLES","geneSymbols":["COL11A1","HHAT","LMNA","PCNT","TBCE","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RIB_SEGMENTATION_ABNORMALITIES":{"collection":"C5:HPO","systematicName":"M36893","pmid":"","exactSource":"HP:0006655","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006655","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RIB_SEGMENTATION_ABNORMALITIES","geneSymbols":["CPLX1","CTBP1","DLL3","FGFRL1","HES7","LETM1","LFNG","MESP2","NELFA","NSD2","PIGG","RIPPLY2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APLASTIC_CLAVICLE":{"collection":"C5:HPO","systematicName":"M36894","pmid":"","exactSource":"HP:0006660","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006660","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASTIC_CLAVICLE","geneSymbols":["ATP7A","CBFB","CDC45","CDC6","CDT1","CTSK","FIG4","GMNN","KIAA0586","ORC1","ORC4","ORC6","PIGL","PTDSS1","PTH1R","RNU12","RNU4ATAC","RUNX2","SALL4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_IMPAIRED_MYOCARDIAL_CONTRACTILITY":{"collection":"C5:HPO","systematicName":"M46118","pmid":"","exactSource":"HP:0006670","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006670","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRED_MYOCARDIAL_CONTRACTILITY","geneSymbols":["ABCC9","ALPK3","CACNA1S","CSRP3","DSP","GABRA3","JUP","KCNE3","KCNJ18","SCN4A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_REDUCED_SYSTOLIC_FUNCTION":{"collection":"C5:HPO","systematicName":"M36895","pmid":"","exactSource":"HP:0006673","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006673","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_SYSTOLIC_FUNCTION","geneSymbols":["ABCC9","ALPK3","CACNA1S","CASQ2","CSRP3","DES","DSP","GABRA3","JPH2","JUP","KCNE3","KCNJ18","LIMS2","MYPN","PLN","RYR2","SCN4A","SCN5A","SGCD","TKFC","TPM2","TPM3","TRDN"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PROLONGED_QRS_COMPLEX":{"collection":"C5:HPO","systematicName":"M47117","pmid":"","exactSource":"HP:0006677","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006677","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROLONGED_QRS_COMPLEX","geneSymbols":["GJA5","IRX5","JUP","PKP2","PRKAG2","TMEM43"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PREMATURE_VENTRICULAR_CONTRACTION":{"collection":"C5:HPO","systematicName":"M36896","pmid":"","exactSource":"HP:0006682","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006682","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PREMATURE_VENTRICULAR_CONTRACTION","geneSymbols":["CACNA1S","CALM1","CALM2","CASQ2","CDH2","CNBP","DOHH","DPP6","DSG2","DSP","JUP","KCNE1","KCNJ2","KCNJ5","NAA10","NFIX","PKP2","RYR1","RYR2","SCN5A","SLC25A20","TECRL","TMEM43","TNNI3K","TOR1AIP1","TRDN","VEZF1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ENDOCARDIAL_FIBROSIS":{"collection":"C5:HPO","systematicName":"M36897","pmid":"","exactSource":"HP:0006685","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006685","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ENDOCARDIAL_FIBROSIS","geneSymbols":["ACTN2","LDB3","MYL3","PDGFRA","SP110","VCL"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_AORTIC_TORTUOSITY":{"collection":"C5:HPO","systematicName":"M45421","pmid":"","exactSource":"HP:0006687","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006687","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AORTIC_TORTUOSITY","geneSymbols":["IPO8","MFAP5","SLC2A10","SMAD3","SMAD6","TGFB2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ATRIOVENTRICULAR_CANAL_DEFECT":{"collection":"C5:HPO","systematicName":"M36899","pmid":"","exactSource":"HP:0006695","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006695","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ATRIOVENTRICULAR_CANAL_DEFECT","geneSymbols":["ACVR2B","BRAF","CCDC22","CCDC32","CDC45","CDH2","CFAP45","CFAP53","CFC1","CIROP","CRELD1","DEF6","DHCR7","DNAH9","DOHH","DPYSL5","DYNC2LI1","ERCC4","EVC","EVC2","FANCB","FOXF1","GATA1","GATA4","GATA6","GDF1","GLI1","GLI3","HYLS1","IFT27","INTU","IRX5","KAT6B","KDM6A","LONP1","LZTR1","MMP21","NEK1","NKX2-5","NKX2-6","NODAL","NR2F2","PKD1L1","PLXND1","PRKACA","PRKACB","PRKD1","PTPN11","PUF60","RAF1","RBM8A","SMAD2","SUPT16H","TBX1","TBX5","TRIO","TTC26","VPS35L","WASHC5","WDPCP","ZIC3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DILATATION_OF_THE_VENTRICULAR_CAVITY":{"collection":"C5:HPO","systematicName":"M36900","pmid":"","exactSource":"HP:0006698","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006698","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DILATATION_OF_THE_VENTRICULAR_CAVITY","geneSymbols":["ALDH18A1","EFEMP2","ELN","FBLN5","FOCAD","GMPPB","LTBP1","NDE1","NPPA","PKP2","RPL10"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PREMATURE_ATRIAL_CONTRACTIONS":{"collection":"C5:HPO","systematicName":"M41339","pmid":"","exactSource":"HP:0006699","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006699","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PREMATURE_ATRIAL_CONTRACTIONS","geneSymbols":["CITED2","GJA5","KCNA5","KCNE2","NAA10","SCN5A","TTN"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APLASIA_HYPOPLASIA_OF_THE_LUNGS":{"collection":"C5:HPO","systematicName":"M36901","pmid":"","exactSource":"HP:0006703","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006703","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_LUNGS","geneSymbols":["AARS2","ACE","ACTA1","ADGRG6","AGT","AGTR1","ALDH1A2","ALG3","ALG9","ASCC1","ATP5F1A","B3GALT6","BCOR","BMPER","CC2D2A","CDC45","CEP120","CEP55","CHRM3","CHRNA1","CHRND","CHRNG","COL2A1","COQ7","CPLX1","CSPP1","CTBP1","CTNNA2","DHCR7","DLK1","DOK7","DONSON","DPAGT1","DYNC2H1","DYNC2I1","DYNC2I2","DYNC2LI1","DZIP1L","ETFA","ETFB","ETFDH","EVC","EVC2","FAM20C","FANCB","FGF20","FGFR3","FLNA","FLNB","FRAS1","FREM2","FUZ","GATA6","GBA1","GFRA1","GLDN","GLE1","GLI1","GPKOW","GREB1L","GRIP1","HOXD13","HSPG2","IFT140","IFT172","IFT80","IFT81","INTU","INVS","ITGA8","KAT6B","KIAA0586","KIAA0753","KIF21A","KLHL40","KLHL41","LBR","LETM1","LGI4","LIFR","LMNA","LMOD3","LONP1","LTBP4","MCTP2","MEG3","MKKS","MKS1","MUSK","MYH11","MYH3","MYOD1","MYRF","NAA10","NDUFB10","NEB","NEK1","NEK8","NEK9","NELFA","NKX2-6","NPHP3","NSD2","NSDHL","NUP88","PEX1","PHGDH","PI4KA","PIEZO2","PIGG","PIGN","PKHD1","PLXND1","PORCN","PRKACA","PRKACB","PRRX1","PTH1R","RAPSN","RARB","RBM10","REN","RET","RLIM","RSPO2","RTL1","RYR1","SCN4A","SETBP1","SF3B2","SLC18A3","SLC25A24","SLC26A2","SLC31A1","SMO","SON","SPECC1L","STRA6","TAPT1","TCTN3","TMEM94","TRIP11","TRIP4","TRPV4","TTC21B","TUBA1A","TXNDC15","VANGL1","WDR19","WDR35","WNT3","WNT4","WNT7B","WNT9B","WT1","ZFPM2","ZIC3","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CORONARY_ARTERY_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M36902","pmid":"","exactSource":"HP:0006704","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006704","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CORONARY_ARTERY_MORPHOLOGY","geneSymbols":["ABCA1","ABCC6","ABCG5","ABCG8","ACTA2","ANAPC7","APOA1","APOA2","APOB","APOE","BRCC3","CELA2A","CEP19","CIROP","CYP27A1","CYP7A1","DYRK1B","ELN","ENPP1","EPHX2","ERCC6","ERCC8","ESR1","FBN1","FOXE3","GHR","GLB1","GPIHBP1","HEY2","HGD","LDLR","LDLRAP1","LIPC","LMNA","LMX1B","LOX","LRP6","LZTR1","MAT2A","MEF2A","MFAP5","MLXIPL","MYH11","MYLK","NADSYN1","NKX2-6","NT5E","PCSK9","PLXND1","PNPLA2","PPARG","PPFIBP1","PPP1R17","PRKG1","SERPIND1","SMAD2","SMAD3","SMAD4","SMPD1","TGFB2","TGFB3","TGFBR1","TGFBR2","THSD4","TKT","XYLT1","XYLT2","YY1AP1","ZNF687"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_ATRIOVENTRICULAR_VALVE_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M36903","pmid":"","exactSource":"HP:0006705","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006705","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ATRIOVENTRICULAR_VALVE_MORPHOLOGY","geneSymbols":["ABCC6","ACTC1","ADNP","AEBP1","AGGF1","AGR2","ALG5","ALG9","ANK1","ARVCF","ATP6V1E1","B3GALT6","B3GAT3","BAZ1B","BCL7B","BCOR","BGN","BICC1","BRAF","BRF1","BUD23","CBS","CCDC22","CCNQ","CHD7","CHST14","CHST3","CITED2","CLIC2","CLIP2","COL1A1","COL1A2","COL2A1","COL3A1","COL5A1","COL5A2","COMT","COX7B","CREBBP","DCHS1","DNAJB11","DNAJC30","DPYSL5","DSE","DZIP1","EIF4H","ELN","ENPP1","EP300","EXTL3","FBN1","FBN2","FGFR1","FIBP","FKBP6","FLNA","FMN2","FMR1","FOXF1","FREM1","GANAB","GATA1","GATA4","GATA6","GBA1","GJA1","GNB2","GNPTAB","GP1BB","GTF2I","GTF2IRD1","GTF2IRD2","HCCS","HCN4","HEXB","HGD","HIRA","HNRNPH2","HRAS","IDS","IFIH1","IFT140","IPO8","JMJD1C","JPH2","KRAS","LIMK1","LMNA","LRPPRC","LTBP3","LZTR1","MAP3K7","MAPK1","MCTP2","MED12","METTL27","MFAP5","MLXIPL","MMP14","MMP2","MMP21","MTX2","MYCN","MYH6","MYH7","MYPN","MYRF","NCF1","NDUFB11","NF1","NKX2-5","NONO","NOTCH1","NPR3","NXN","PCGF2","PKD1","PKD2","PLD1","PLOD1","PLXND1","POLG","PRDM5","PRG4","PTPN11","RAF1","RFC2","ROBO1","ROR2","RPL5","RPS6KA3","RREB1","RYR1","SACS","SEC24C","SELENON","SH3PXD2B","SKI","SLC29A3","SLC34A2","SLC6A6","SMAD3","SMAD4","SMARCA4","SPRED1","SPRED2","STX1A","TAB2","TBL2","TBX1","TBX20","TGFB2","TGFBR1","TGFBR2","TLL1","TMEM260","TMEM270","TMEM94","TNXB","TPM1","TPM2","TPM3","TRAF7","TTN","TWNK","UFD1","VPS13B","VPS35L","VPS37D","VWF","WASHC5","XYLT1","XYLT2","YY1","ZIC3","ZMPSTE24","ZNF469"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CYSTIC_LIVER_DISEASE":{"collection":"C5:HPO","systematicName":"M36904","pmid":"","exactSource":"HP:0006706","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006706","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CYSTIC_LIVER_DISEASE","geneSymbols":["ALG5","ALG8","ALG9","B9D1","B9D2","BICC1","CC2D2A","CEP290","CSPP1","DNAJB11","EXTL3","GANAB","IFNG","IFT122","IFT140","JAK1","LRP5","MKS1","NEK8","NPHP3","OFD1","PKD1","PKD2","PKHD1","PRKCSH","RPGRIP1","RPGRIP1L","SEC63","TCTN1","TCTN2","TCTN3","TMEM107","TMEM216","TMEM231","TMEM237","TMEM67","TSC1","TSC2","TTC21B","TXNDC15","WDR19"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_HEPATIC_VASCULATURE":{"collection":"C5:HPO","systematicName":"M36905","pmid":"","exactSource":"HP:0006707","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006707","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_HEPATIC_VASCULATURE","geneSymbols":["ABCD3","ACTG2","ACVRL1","ADA2","ALMS1","ARHGAP31","ASXL1","BMP6","BTNL2","CALR","CBL","CC2D2A","CLDN1","CORIN","CTNNB1","DCDC2","DGUOK","DLL4","DOCK6","DZIP1L","ELN","ENG","EOGT","F5","FARSB","FLT1","GBE1","GDF2","GIMAP5","GLIS3","GNB2","GPR35","HFE","HLA-DRB1","IL12A","IL12RB1","INPP5E","IRF5","ITCH","JAK2","KCNN4","KIF12","KIF20A","KRIT1","LIPA","MED12","MET","MLXIPL","MMEL1","MPI","MPL","MST1","NAF1","NEUROG3","NOTCH1","NPHP3","PIEZO1","PIGM","PKHD1","POU2AF1","PRIM1","RBPJ","RECQL4","RNU7-1","RPGRIP1L","RUNX1","SEMA4D","SERPINC1","SHPK","SLC30A10","SLC4A1","SMAD4","SOX10","SP110","SPIB","SRSF2","STN1","STOX1","TCF4","TET2","TJP2","TMEM67","TNFSF15","TNPO3","TREX1","TTC26","TULP3","UBR1","ZFYVE19"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APLASIA_HYPOPLASIA_OF_THE_NIPPLES":{"collection":"C5:HPO","systematicName":"M36906","pmid":"","exactSource":"HP:0006709","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006709","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_NIPPLES","geneSymbols":["ALG9","ANTXR1","BRD4","CCDC22","CCDC47","CDH11","CHRNG","CPLX1","CTBP1","DLK1","DPYSL5","EDA","EDARADD","EFNB1","FAT4","FIG4","GNE","HDAC8","IKBKG","KCTD1","KDM6B","KIF15","KMT2D","KRT10","LETM1","MEG3","MEGF8","MGAT2","NELFA","NIPBL","NSD2","PEX2","PIGG","PIGL","PIGN","PORCN","PTPRF","RAD21","RSPO2","RTL1","SETBP1","SLC25A24","SMC1A","SMC3","TBX3","TP63","TUBB","TWIST2","UBR1","USP9X","VAC14","VPS35L","WASHC5","WNT3","WNT7A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APLASIA_HYPOPLASIA_OF_THE_CLAVICLES":{"collection":"C5:HPO","systematicName":"M36907","pmid":"","exactSource":"HP:0006710","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006710","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_CLAVICLES","geneSymbols":["ALX4","ATP7A","B4GALT7","BCOR","BGN","BMPR1A","CBFB","CDC42BPB","CDC45","CDC6","CDT1","CHD4","CTSK","DCHS1","DYNC2LI1","EFNB1","FAT4","FBXL3","FGFR2","FIG4","FLNA","GMNN","HOXD13","IDUA","KIAA0586","LEMD2","LMNA","MSX2","NAA10","NSDHL","ORC1","ORC4","ORC6","PIGL","PORCN","PTDSS1","PTEN","PTH1R","RNU12","RNU4ATAC","RSPO2","RUNX2","SALL4","SCARF2","SRCAP","TBX3","TBX5","TRIP11","TWIST1","VAC14","WNT7A","XYLT1","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APLASIA_HYPOPLASIA_INVOLVING_BONES_OF_THE_THORAX":{"collection":"C5:HPO","systematicName":"M36908","pmid":"","exactSource":"HP:0006711","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006711","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_INVOLVING_BONES_OF_THE_THORAX","geneSymbols":["ACTB","ALDH1A2","ALG12","ALPL","ALX4","ARID1B","ATP6V1B2","ATP7A","ATR","B3GALT6","B3GAT3","B4GALT7","B4GAT1","BCOR","BGN","BMP2","BMPER","BMPR1A","BUB1B","C2CD3","CASZ1","CBFB","CCDC22","CDC42BPB","CDC45","CDC6","CDT1","CENPJ","CEP120","CEP152","CHD4","CHST3","COL11A1","COL11A2","COL2A1","CPLANE1","CSPP1","CTSK","CUL7","DCHS1","DDR2","DDRGK1","DLK1","DNMT3A","DONSON","DPYSL5","DYM","DYNC2H1","DYNC2I1","DYNC2I2","DYNC2LI1","DYNLT2B","EFNB1","ERMARD","EVC","EVC2","EZH2","FAT4","FBN1","FBXL3","FGFR1","FGFR2","FGFR3","FIG4","FLI1","FLNA","FLNB","FRA10AC1","FRAS1","FUZ","GABRD","GMNN","GNPTAB","GPC3","GPC4","GPX4","GSC","HDAC6","HES7","HNRNPR","HOXD13","HSPG2","IDUA","IFT122","IFT140","IFT172","IFT43","IFT80","IFT81","IHH","INPPL1","INTU","KCNAB2","KIAA0586","KMT2A","KYNU","LAMA5","LBR","LEMD2","LMNA","LMX1B","LRP2","LUZP1","MEG3","MMP23B","MSX2","MYF5","NAA10","NALCN","NEK1","NFASC","NFIX","NIPBL","NKX3-2","NOG","NSDHL","NUP88","ORC1","ORC4","ORC6","PAICS","PAM16","PCGF2","PCNT","PDPN","PIGL","PLCB3","POR","PORCN","PRDM16","PRIM1","PRKCZ","PSMB8","PTCH1","PTDSS1","PTEN","PTH1R","PTPN11","PUF60","RBM10","RERE","RIPK4","RNU12","RNU4ATAC","ROR2","RPS19","RRAS2","RSPO2","RTL1","RUNX2","SALL4","SCARF2","SCUBE3","SETBP1","SF3B4","SIX6","SKI","SLC26A2","SLC35D1","SMO","SNRPB","SOX2","SOX9","SPEN","SRCAP","TAPT1","TBC1D24","TBCK","TBX15","TBX3","TBX5","TBX6","TMEM231","TOR1A","TRIP11","TRPV4","TRPV6","TWIST1","UBA1","UBE4B","VAC14","VANGL1","VPS35L","WASHC5","WDR35","WNT3","WNT7A","XYLT1","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APLASIA_HYPOPLASIA_OF_THE_RIBS":{"collection":"C5:HPO","systematicName":"M36909","pmid":"","exactSource":"HP:0006712","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006712","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_RIBS","geneSymbols":["ALDH1A2","ALG12","ALPL","ATP6V1B2","ATR","B3GALT6","B3GAT3","B4GAT1","BMP2","BMPER","C2CD3","CASZ1","CCDC22","CENPJ","CEP120","CEP152","CHST3","COL11A1","COL11A2","COL2A1","CPLANE1","CSPP1","CUL7","DDR2","DDRGK1","DLK1","DNMT3A","DONSON","DPYSL5","DYNC2H1","DYNC2I1","DYNC2I2","DYNC2LI1","DYNLT2B","ERMARD","EVC","EVC2","EZH2","FBN1","FGFR3","FIG4","FLI1","FLNA","FLNB","FUZ","GABRD","GNPTAB","GPC3","GPC4","GPX4","HDAC6","HES7","HNRNPR","HSPG2","IFT122","IFT140","IFT172","IFT43","IFT80","IFT81","IHH","INPPL1","INTU","KCNAB2","KIAA0586","KMT2A","KYNU","LAMA5","LBR","LMX1B","LUZP1","MEG3","MMP23B","MYF5","NALCN","NEK1","NFASC","NKX3-2","NSDHL","NUP88","ORC1","ORC6","PAICS","PAM16","PDPN","PLCB3","PORCN","PRDM16","PRIM1","PRKCZ","PTCH1","PTH1R","PTPN11","PUF60","RERE","RNU12","RNU4ATAC","ROR2","RPS19","RRAS2","RSPO2","RTL1","RUNX2","SCARF2","SCUBE3","SETBP1","SF3B4","SIX6","SKI","SLC26A2","SLC35D1","SMO","SNRPB","SOX2","SOX9","SPEN","SRCAP","TAPT1","TBC1D24","TBCK","TBX6","TOR1A","TRIP11","TRPV4","TRPV6","UBA1","UBE4B","VAC14","VANGL1","VPS35L","WASHC5","WDR35","WNT3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APLASIA_HYPOPLASIA_OF_THE_SCAPULAE":{"collection":"C5:HPO","systematicName":"M36910","pmid":"","exactSource":"HP:0006713","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006713","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_SCAPULAE","geneSymbols":["ACTB","COL11A1","COL11A2","COL2A1","DLK1","DYM","FGFR1","FGFR3","FIG4","FLNA","GNPTAB","GSC","INPPL1","MEG3","NSDHL","PCNT","POR","PSMB8","RIPK4","RSPO2","RTL1","RUNX2","SCARF2","SLC35D1","SOX9","TBX15","TBX3","TRIP11","VAC14","WDR35"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APLASIA_HYPOPLASIA_OF_THE_STERNUM":{"collection":"C5:HPO","systematicName":"M36911","pmid":"","exactSource":"HP:0006714","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006714","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_STERNUM","geneSymbols":["ARID1B","BUB1B","FIG4","FRA10AC1","FRAS1","GPC3","GPC4","LAMA5","LRP2","NFIX","NIPBL","NOG","ORC1","ORC6","PCGF2","RBM10","SETBP1","SOX9","TMEM231","VAC14"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HEREDITARY_NONPOLYPOSIS_COLORECTAL_CARCINOMA":{"collection":"C5:HPO","systematicName":"M36912","pmid":"","exactSource":"HP:0006716","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006716","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEREDITARY_NONPOLYPOSIS_COLORECTAL_CARCINOMA","geneSymbols":["AKT1","APC","AURKA","AXIN2","BAX","BRAF","BUB1","BUB1B","CCND1","CHEK2","CTNNB1","DCC","DLC1","EP300","EPCAM","FGFR3","FLCN","MCC","MLH3","MSH6","NRAS","PDGFRL","PIK3CA","PLA2G2A","PMS2","POLD1","PTPN12","PTPRJ","RAD54B","SRC","TGFBR2","TLR2","TP53"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ACUTE_LYMPHOBLASTIC_LEUKEMIA":{"collection":"C5:HPO","systematicName":"M36913","pmid":"","exactSource":"HP:0006721","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006721","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACUTE_LYMPHOBLASTIC_LEUKEMIA","geneSymbols":["ABL1","APC2","ATM","BAX","BCR","BLM","BRCA2","BUB1","BUB1B","BUB3","CDKN2A","CEP57","CHEK2","CLPB","DUT","ELANE","ETV6","FLT3","GFI1","GNB1","HAX1","IKZF1","LIG4","MDM2","MSH2","NBN","NSD1","NSUN2","NUP214","PIGL","SETD2","SRP19","SRP54","TAL1","TAL2","TCF3","TCIRG1","TP53","TRIP13"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INTESTINAL_CARCINOID":{"collection":"C5:HPO","systematicName":"M41340","pmid":"","exactSource":"HP:0006723","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006723","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTESTINAL_CARCINOID","geneSymbols":["CDKN1A","CDKN1B","CDKN2B","CDKN2C","MEN1","SDHD"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PANCREATIC_ADENOCARCINOMA":{"collection":"C5:HPO","systematicName":"M36914","pmid":"","exactSource":"HP:0006725","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006725","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PANCREATIC_ADENOCARCINOMA","geneSymbols":["AAGAB","BMPR1A","BRCA1","BRCA2","CDC73","CDKN2A","COL14A1","CTRC","EPCAM","FAN1","KRAS","MLH1","MLH3","MSH2","MSH6","NTHL1","PALB2","PALLD","PIK3CA","PMS1","PMS2","RABL3","RNF43","RPS20","SEMA4A","SMAD4","SPINK1","STK11","TGFBR2","TP53"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FOLLICULAR_THYROID_CARCINOMA":{"collection":"C5:HPO","systematicName":"M36915","pmid":"","exactSource":"HP:0006731","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006731","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOLLICULAR_THYROID_CARCINOMA","geneSymbols":["AKT1","FOXE1","HABP2","HRAS","KLLN","MINPP1","NRAS","PDE11A","PIK3CA","PRKAR1A","PTEN","SDHB","SDHC","SDHD","SEC23B","SRGAP1","USF3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SQUAMOUS_CELL_CARCINOMA_OF_THE_SKIN":{"collection":"C5:HPO","systematicName":"M36916","pmid":"","exactSource":"HP:0006739","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006739","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SQUAMOUS_CELL_CARCINOMA_OF_THE_SKIN","geneSymbols":["DDB2","ERCC2","ERCC3","ERCC4","ERCC5","IL7","KRT14","KRT5","LMNA","MC1R","NAF1","OCA2","RSPO1","SMARCAD1","TERC","TERT","TINF2","TMC8","TYMS","TYR","XPA","XPC"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ADRENOCORTICAL_CARCINOMA":{"collection":"C5:HPO","systematicName":"M36917","pmid":"","exactSource":"HP:0006744","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006744","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ADRENOCORTICAL_CARCINOMA","geneSymbols":["APC","CDKN1A","CDKN1B","CDKN1C","CDKN2A","CDKN2B","CDKN2C","CHEK2","CTNNB1","IGF2","KCNQ1","KCNQ1OT1","MDM2","MEN1","PRKAR1A","TERT","TP53","ZNRF3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_GANGLIONEUROBLASTOMA":{"collection":"C5:HPO","systematicName":"M43330","pmid":"","exactSource":"HP:0006747","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006747","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GANGLIONEUROBLASTOMA","geneSymbols":["BDNF","EDN3","GDNF","KIF1B","LBX1","MYO1H","PHOX2B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NEOPLASM_OF_THE_STOMACH":{"collection":"C5:HPO","systematicName":"M36918","pmid":"","exactSource":"HP:0006753","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006753","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_STOMACH","geneSymbols":["AAGAB","ACD","AKT1","APC","AURKA","AXIN2","BAP1","BAX","BCL10","BLM","BMPR1A","BRAF","BUB1","BUB1B","BUB3","CASP10","CCND1","CDH1","CDK4","CDKN2A","CDKN2B","CEP57","CHEK2","COL14A1","CTNNB1","DCC","DLC1","ENG","EP300","ERBB2","FGFR2","FGFR3","FLCN","IL1B","IL1RN","IRF1","KIT","KLF6","KRAS","MC1R","MCC","MDM2","MGMT","MITF","MLH1","MLH3","MSH2","MSH3","MSH6","MUTYH","NRAS","PDE11A","PDGFRA","PDGFRL","PIK3CA","PLA2G2A","POT1","PRKAR1A","PTCH1","PTPN12","PTPRJ","RAD54B","RPS20","SDHA","SDHB","SDHC","SEMA4A","SMAD4","SRC","STK11","TERF2IP","TERT","TLR2","TP53","TREX1","TRIP13"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MALIGNANT_GENITOURINARY_TRACT_TUMOR":{"collection":"C5:HPO","systematicName":"M41341","pmid":"","exactSource":"HP:0006758","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006758","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MALIGNANT_GENITOURINARY_TRACT_TUMOR","geneSymbols":["ADA2","BLM","GATA1","HEATR3","MLH1","MSH2","MSH6","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS7","TSR2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CHONDROSARCOMA":{"collection":"C5:HPO","systematicName":"M36919","pmid":"","exactSource":"HP:0006765","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006765","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHONDROSARCOMA","geneSymbols":["EXT1","EXT2","IDH1","IDH2","NR4A3","PTH1R","TAF15"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PAPILLARY_RENAL_CELL_CARCINOMA":{"collection":"C5:HPO","systematicName":"M36920","pmid":"","exactSource":"HP:0006766","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006766","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PAPILLARY_RENAL_CELL_CARCINOMA","geneSymbols":["CDC73","FH","FOXE1","HABP2","LMNA","MET","MINPP1","PRCC"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PITUITARY_PROLACTIN_CELL_ADENOMA":{"collection":"C5:HPO","systematicName":"M36921","pmid":"","exactSource":"HP:0006767","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006767","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PITUITARY_PROLACTIN_CELL_ADENOMA","geneSymbols":["AIP","CDKN1A","CDKN1B","CDKN2B","CDKN2C","GPR101","MEN1","YY1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DUODENAL_ADENOCARCINOMA":{"collection":"C5:HPO","systematicName":"M36922","pmid":"","exactSource":"HP:0006771","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006771","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DUODENAL_ADENOCARCINOMA","geneSymbols":["APC","BMPR1A","GREM1","MLH1","MSH2","NTHL1","SMAD4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RENAL_ANGIOMYOLIPOMA":{"collection":"C5:HPO","systematicName":"M41342","pmid":"","exactSource":"HP:0006772","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006772","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RENAL_ANGIOMYOLIPOMA","geneSymbols":["CDKN1B","IFNG","MVK","TSC1","TSC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_OVARIAN_PAPILLARY_ADENOCARCINOMA":{"collection":"C5:HPO","systematicName":"M36923","pmid":"","exactSource":"HP:0006774","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006774","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OVARIAN_PAPILLARY_ADENOCARCINOMA","geneSymbols":["AKT1","CDH1","CTNNB1","ERBB2","OPCML","PIK3CA","PRKN"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MULTIPLE_MYELOMA":{"collection":"C5:HPO","systematicName":"M43331","pmid":"","exactSource":"HP:0006775","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006775","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MULTIPLE_MYELOMA","geneSymbols":["ASXL1","CCND1","GBA1","KIT","LIG4","SRSF2","TET2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ALVEOLAR_RHABDOMYOSARCOMA":{"collection":"C5:HPO","systematicName":"M36924","pmid":"","exactSource":"HP:0006779","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006779","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ALVEOLAR_RHABDOMYOSARCOMA","geneSymbols":["DICER1","FOXO1","KEAP1","PAX3","PAX7"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PARATHYROID_CARCINOMA":{"collection":"C5:HPO","systematicName":"M41343","pmid":"","exactSource":"HP:0006780","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006780","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PARATHYROID_CARCINOMA","geneSymbols":["CDC73","CDKN1A","CDKN1B","CDKN2B","CDKN2C","GCM2","MEN1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_POSTERIOR_PHARYNGEAL_CLEFT":{"collection":"C5:HPO","systematicName":"M36925","pmid":"","exactSource":"HP:0006783","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006783","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POSTERIOR_PHARYNGEAL_CLEFT","geneSymbols":["CD19","CD81","CR2","ICOS","IRF2BP2","MID1","MS4A1","NFKB1","NFKB2","PRKCD","TNFRSF13B","TNFRSF13C","TNFSF12"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LIMB_GIRDLE_MUSCULAR_DYSTROPHY":{"collection":"C5:HPO","systematicName":"M36926","pmid":"","exactSource":"HP:0006785","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006785","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIMB_GIRDLE_MUSCULAR_DYSTROPHY","geneSymbols":["ACTA1","ANO5","CRPPA","DAG1","DPM3","EMD","FHL1","HNRNPA1","HNRNPDL","LMNA","POGLUT1","POMT2","SGCA","SYNE1","SYNE2","TMEM43","TRAPPC11"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BASAL_GANGLIA_CYSTS":{"collection":"C5:HPO","systematicName":"M36927","pmid":"","exactSource":"HP:0006799","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006799","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BASAL_GANGLIA_CYSTS","geneSymbols":["ADAR","CPT2","GFM1","LONP1","MT-ATP6","NUP54","NUP62","PDHA1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPERACTIVE_DEEP_TENDON_REFLEXES":{"collection":"C5:HPO","systematicName":"M36928","pmid":"","exactSource":"HP:0006801","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006801","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERACTIVE_DEEP_TENDON_REFLEXES","geneSymbols":["ATP6AP2","ATXN1","ATXN2","BEAN1","DNM1L","GALC","GJA1","KCNC3","MAB21L1","MECP2","MRE11","PMP22","PRNP","PRPS1","PRRT2","PRSS12","SAMD9L","SDHA","SDHAF1","SDHB","SDHD","SLC2A1","SMG9","STUB1","TANGO2","TIMM8A","UROC1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CEREBRAL_HYPOMYELINATION":{"collection":"C5:HPO","systematicName":"M36930","pmid":"","exactSource":"HP:0006808","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006808","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CEREBRAL_HYPOMYELINATION","geneSymbols":["ADSL","ALG2","BCAP31","CYB5A","CYB5R3","EIF2B1","GJC2","HYCC1","MTHFS","PGAP2","PGAP3","PHGDH","PIGL","PIGO","PIGV","PIGW","PIGY","PLP1","POLR3B","RARS1","SLC1A4","SLC25A12","SOX10","SPATA5","STXBP1","TBCD","TMTC3","TUBB4A","VPS11","WDR26"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FOCAL_HEMICLONIC_SEIZURE":{"collection":"C5:HPO","systematicName":"M36931","pmid":"","exactSource":"HP:0006813","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006813","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOCAL_HEMICLONIC_SEIZURE","geneSymbols":["ATP1A3","CACNA2D1","CUX2","FRRS1L","FZR1","GABRA1","GABRG2","GNB1","GRIN2A","KANSL1","KCNQ2","KCNT1","PCDH19","PIGA","PLCB1","SCN1A","SCN1B","SCN2A","SCN8A","SCN9A","SLC12A5","SLC25A22","SMARCAL1","TBC1D24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APLASIA_HYPOPLASIA_OF_THE_CEREBELLAR_VERMIS":{"collection":"C5:HPO","systematicName":"M36932","pmid":"","exactSource":"HP:0006817","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006817","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_CEREBELLAR_VERMIS","geneSymbols":["ACY1","ADGRG1","AFF3","AHI1","AIPL1","ALG3","ALX4","AP1S2","APC2","ARHGEF2","ARID1A","ARID1B","ARID2","ARL13B","ARL3","ARMC9","ASNS","ASXL1","ASXL3","ATN1","ATP2B3","ATP6V0A2","ATP6V1A","ATP6V1B2","ATP6V1E1","ATP9A","ATR","B3GALNT2","B4GALT1","B4GAT1","B9D1","B9D2","BCOR","BICD2","BLTP1","BMP4","BRF1","BUB1","BUB1B","BUB3","C2CD3","CBY1","CC2D2A","CCDC22","CCDC32","CDC42","CDC42BPB","CDKN1C","CENPF","CEP104","CEP120","CEP164","CEP290","CEP41","CEP57","CHD7","COG1","COL4A1","CPLANE1","CPSF3","CPT2","CRB1","CRPPA","CRX","CSF1R","CSPP1","CWF19L1","DAG1","DCHS1","DDX3X","DENND5A","DHCR7","DOK7","DPF2","DPH1","DPH2","DPH5","DPYSL5","DYNC1H1","DYNC2H1","DYNC2I1","DYNC2I2","EBF3","EBP","EPG5","ESCO2","EVC","EVC2","EXOC2","EXOSC8","FAM149B1","FAR1","FAT4","FDXR","FGFR1","FIG4","FKRP","FKTN","FLVCR2","FOXC1","FRMD4A","FTO","GDF6","GEMIN4","GJB2","GJB6","GLI3","GMPPB","GOT2","GPC3","GPC4","GRIA3","GRM1","GTPBP2","GUCY2D","H3-3A","HHAT","HNRNPH1","HNRNPR","HRAS","HYLS1","IFT140","IFT172","IFT74","IFT80","IGF2","IMPDH1","INPP5E","INTS1","IQCB1","ITPR1","KATNIP","KCNJ13","KCNQ1","KCNQ1OT1","KIAA0586","KIAA0753","KIF14","KIF21A","KIF5A","KIF7","KNL1","KPNA3","KRAS","L1CAM","LAMA1","LAMB1","LARGE1","LCA5","LETM1","LNPK","LRAT","LRPPRC","LRRC32","MAB21L1","MACF1","MAN2C1","MAPKAPK5","MAST1","MBD5","MDH1","MED11","MEF2C","MID1","MKS1","MPL","MRE11","MTM1","MUSK","MVK","MYOD1","NCAPG2","NEK1","NMNAT1","NPHP1","NPHP3","NRAS","NSD1","NSRP1","NUP37","NUP88","OFD1","OPHN1","PACS1","PACS2","PAFAH1B1","PCGF2","PCYT1A","PDE6D","PGAP1","PGAP2","PHGDH","PI4KA","PIBF1","PIEZO2","PIGN","PIGU","PLCH1","PLG","PMM2","POLR3A","POMGNT1","POMGNT2","POMK","POMT1","POMT2","PPFIBP1","PPP1CB","PPP1R21","PRDM13","PRKDC","PSAT1","PTEN","PTF1A","RAB11B","RAB18","RAB3GAP1","RAB3GAP2","RAC1","RAPSN","RARS2","RBM10","RBM8A","RD3","RDH12","RERE","RFX7","RNF113A","RNU4ATAC","ROBO1","RPE65","RPGRIP1","RPGRIP1L","RXYLT1","SACS","SASS6","SEMA3E","SEMA6B","SEPSECS","SETD2","SLC18A3","SLC25A19","SLC25A24","SLC35A2","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SMG9","SOX11","SOX4","SPATA7","SRD5A3","SRPX2","SUFU","SYT2","TAF1","TBC1D20","TBC1D24","TBCK","TCTN1","TCTN2","TCTN3","TFAP2A","THG1L","THOC2","TMCO1","TMEM107","TMEM138","TMEM216","TMEM218","TMEM231","TMEM237","TMEM67","TOGARAM1","TOPORS","TRAPPC9","TRIP13","TRRAP","TSEN15","TSEN2","TSEN34","TSEN54","TUBA1A","TUBB","TUBB2A","TUBB2B","TUBB3","TUBB4B","TULP1","TXNDC15","USP45","USP9X","VLDLR","VPS35L","VPS4A","VPS51","WARS2","WASHC5","WDR35","WDR73","WDR81","WLS","ZEB2","ZIC1","ZNF423"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FRONTAL_POLYMICROGYRIA":{"collection":"C5:HPO","systematicName":"M46119","pmid":"","exactSource":"HP:0006821","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006821","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FRONTAL_POLYMICROGYRIA","geneSymbols":["ADGRG1","AHI1","ARHGEF9","DYNC1H1","PPFIBP1","TUBB3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SEVERE_MUSCULAR_HYPOTONIA":{"collection":"C5:HPO","systematicName":"M36934","pmid":"","exactSource":"HP:0006829","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006829","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEVERE_MUSCULAR_HYPOTONIA","geneSymbols":["ACTA1","AIFM1","ALG14","ASCC1","B3GALNT2","B4GAT1","BICD2","BMP4","CARS2","CCDC174","DMXL2","DOLK","DPM2","FKBP14","FKRP","FKTN","GCDH","GCH1","GPT2","GRIN1","IBA57","ITPA","KIF1A","KLHL40","KLHL41","LARGE1","LMOD3","MPLKIP","MPZ","MTM1","MYMK","NDUFS6","NEB","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PGAP2","PIGG","PIGN","PNPT1","POMGNT1","POMT1","POMT2","PURA","RMND1","SLC25A1","SLC25A12","SLC39A8","SNRPN","SPTBN4","STRADA","TBC1D24","TBCK","TPM3","TRIP4","UBA1","VAMP1","ZNHIT3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABSENT_PATELLAR_REFLEXES":{"collection":"C5:HPO","systematicName":"M46120","pmid":"","exactSource":"HP:0006844","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006844","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_PATELLAR_REFLEXES","geneSymbols":["ERLIN1","FBLN5","GNB4","HSPB3","IL6ST","KLHL9","LIFR","MFN2","MYH14","PMP2","PSMC1","SMN1","SMN2","WARS1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ACUTE_ENCEPHALOPATHY":{"collection":"C5:HPO","systematicName":"M36935","pmid":"","exactSource":"HP:0006846","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006846","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACUTE_ENCEPHALOPATHY","geneSymbols":["ACY1","ATP5F1A","COG8","MYRF","NDUFS4","PCCA","PCCB","RANBP2","SLC22A5","SLC25A15","SQOR","TRAF3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPOPLASIA_OF_THE_VENTRAL_PONS":{"collection":"C5:HPO","systematicName":"M41344","pmid":"","exactSource":"HP:0006850","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006850","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASIA_OF_THE_VENTRAL_PONS","geneSymbols":["SEPSECS","TSEN15","TSEN2","TSEN34","TSEN54","VRK1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CEREBELLAR_VERMIS_ATROPHY":{"collection":"C5:HPO","systematicName":"M36936","pmid":"","exactSource":"HP:0006855","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006855","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CEREBELLAR_VERMIS_ATROPHY","geneSymbols":["ADPRS","ARF1","ATXN8OS","BCL11A","CACNA1A","CACNA1G","CACNA2D2","CHP1","CNTNAP2","COX20","CUL4B","DAB1","DLG4","ELOVL5","FA2H","FAR1","GJB1","GRID2","GTPBP2","HTT","ITPR1","KIF1A","LMX1B","MARS2","MME","NPTX1","OPA1","PEX16","PEX2","PIGS","PIK3R5","PLP1","PMPCA","POLR3B","PRKCG","PUM1","QARS1","RFC1","RNU12","SACS","SCYL1","SEPSECS","SETX","SLC39A8","SLC9A1","STXBP1","SYT14","TDP1","TMEM240","TRPC3","TUBB","VPS41","WDR4","XRCC4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_IMPAIRED_DISTAL_PROPRIOCEPTION":{"collection":"C5:HPO","systematicName":"M36937","pmid":"","exactSource":"HP:0006858","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006858","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRED_DISTAL_PROPRIOCEPTION","geneSymbols":["BSCL2","CYP7B1","DARS2","GDAP1","KIF1A","MORC2","MTTP","NDRG1","PDYN","POLG","POLR3A","POLR3B","SPTLC1","TDP1","TWNK","XRCC1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SEVERE_EXPRESSIVE_LANGUAGE_DELAY":{"collection":"C5:HPO","systematicName":"M36938","pmid":"","exactSource":"HP:0006863","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006863","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEVERE_EXPRESSIVE_LANGUAGE_DELAY","geneSymbols":["ARID1B","ASXL1","DPYD","EHMT1","GRIA3","HERC1","KMT2C","POGZ","RSPRY1","SH2B1","SPATA5","TAF1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LOBAR_HOLOPROSENCEPHALY":{"collection":"C5:HPO","systematicName":"M36939","pmid":"","exactSource":"HP:0006870","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006870","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOBAR_HOLOPROSENCEPHALY","geneSymbols":["B9D1","B9D2","CC2D2A","CEP290","CNOT1","CSPP1","FGFR1","MKS1","PTCH1","RAD21","RPGRIP1","RPGRIP1L","RTTN","TCTN1","TCTN2","TCTN3","TMEM107","TMEM216","TMEM231","TMEM237","TMEM67","TXNDC15","ZIC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CEREBRAL_HYPOPLASIA":{"collection":"C5:HPO","systematicName":"M36940","pmid":"","exactSource":"HP:0006872","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006872","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CEREBRAL_HYPOPLASIA","geneSymbols":["ANKLE2","ARHGEF9","ASPM","ATP1A1","BRAF","BUB1B","C2CD3","CDK5RAP2","CDK6","CENPE","CENPJ","CEP135","CEP152","CEP63","CIT","CNNM2","COASY","COPB2","CSPP1","DHCR7","DPM1","FDXR","FH","FIG4","GCDH","HHAT","HSD17B4","KIAA0586","KIF14","KNL1","MBD5","MCM7","MCPH1","METTL5","MFSD2A","MKS1","MYSM1","NCAPD3","NUP37","PHC1","PHGDH","PYCR2","RNU4ATAC","RTTN","SARS1","SASS6","SLC35C1","STIL","TAF13","TRAPPC10","TRAPPC14","VAC14","WARS1","WDR45B","WDR62"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PONTOCEREBELLAR_ATROPHY":{"collection":"C5:HPO","systematicName":"M36941","pmid":"","exactSource":"HP:0006879","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006879","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PONTOCEREBELLAR_ATROPHY","geneSymbols":["CCDC88C","CLTC","DPM1","FA2H","LAMA2","RORA","SETX","VPS4A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_IMPAIRED_DISTAL_VIBRATION_SENSATION":{"collection":"C5:HPO","systematicName":"M36942","pmid":"","exactSource":"HP:0006886","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006886","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRED_DISTAL_VIBRATION_SENSATION","geneSymbols":["ABCD1","ALDH18A1","AMPD2","APTX","ATP1A1","B4GALNT1","CACNA1G","CADM3","CHCHD10","CHP1","CPT1C","DCAF8","DHH","DHTKD1","EGR2","FMR1","GBA2","GCH1","GDAP1","JAG1","KCNC3","KCND3","KIF1A","KIF5A","LMNB1","LRSAM1","MAG","MORC2","MPZ","MTRFR","NDRG1","NEFL","PDK3","PDXK","PDYN","PEX10","PMP2","PMP22","POLG","POLR3B","PRKCG","PRX","REEP2","SETX","SH3TC2","SPART","SPAST","SPG11","TWNK","UCHL1","VCP","XK","XRCC1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INTELLECTUAL_DISABILITY_PROGRESSIVE":{"collection":"C5:HPO","systematicName":"M36943","pmid":"","exactSource":"HP:0006887","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006887","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTELLECTUAL_DISABILITY_PROGRESSIVE","geneSymbols":["ACOX1","AIFM1","AP4M1","ARX","ATRX","B3GLCT","CTSD","DDB2","DMPK","ERCC2","ERCC3","ERCC4","ERCC5","GCH1","KAT6B","KCNH1","L2HGDH","MECP2","MTRR","NDE1","NDP","NKX2-5","PEX1","PTS","RAB3GAP2","SLC16A2","SLC35C1","SLC9A6","SNAP29","SNRPN","SUCLA2","TCF4","TK2","TONSL","TSHB","UBE3A","WDR81","XPA","XPC"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MENINGOENCEPHALOCELE":{"collection":"C5:HPO","systematicName":"M36944","pmid":"","exactSource":"HP:0006888","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006888","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MENINGOENCEPHALOCELE","geneSymbols":["FKRP","FKTN","LARGE1","POMT1","POMT2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INTELLECTUAL_DISABILITY_BORDERLINE":{"collection":"C5:HPO","systematicName":"M36945","pmid":"","exactSource":"HP:0006889","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006889","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTELLECTUAL_DISABILITY_BORDERLINE","geneSymbols":["AASS","ALOX12B","ALOXE3","CLDN11","CPLX1","ENTPD1","GABRG2","GRIN2A","IFT172","KCNMA1","MAGEL2","NDN","NRAS","NUDT2","OCA2","POMK","SCN3A","SCN8A","SNRPN","SRPX2","TBC1D24","TONSL","TRAPPC11","TRIO","YY1AP1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_THICK_CEREBRAL_CORTEX":{"collection":"C5:HPO","systematicName":"M41345","pmid":"","exactSource":"HP:0006891","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006891","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THICK_CEREBRAL_CORTEX","geneSymbols":["APC2","ATP6V0A2","ATP6V1A","ATP6V1E1","CPLX1","NIPA1","NIPA2","PAFAH1B1","RELN","TBC1D24","TUBG1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FRONTOTEMPORAL_CEREBRAL_ATROPHY":{"collection":"C5:HPO","systematicName":"M36946","pmid":"","exactSource":"HP:0006892","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006892","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FRONTOTEMPORAL_CEREBRAL_ATROPHY","geneSymbols":["ATP1A3","CHMP2B","COG4","GABRA5","GRN","HSD17B10","MAPT","PLA2G6","PRKAR1B","PSEN1","SPG21","SQSTM1","TMEM106B","TREM2","TTC26","VCP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LOWER_LIMB_HYPERTONIA":{"collection":"C5:HPO","systematicName":"M36947","pmid":"","exactSource":"HP:0006895","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006895","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOWER_LIMB_HYPERTONIA","geneSymbols":["AFG3L2","ALDH18A1","ASXL1","ATL1","ATRX","CLDN11","FA2H","FAR1","GDAP2","KAT6A","KDM1A","KDM5C","KIDINS220","KIF5A","LBR","MTPAP","MTRR","PIGA","PNPT1","RARS1","RNU7-1","SDHA","SDHAF1","SDHB","SDHD","SEPSECS","SLC33A1","SLC35C1","SLC39A14","SMG9","SPG7","TSEN15","TSEN2","TSEN34","TSEN54","VPS37A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABDUCENS_PALSY":{"collection":"C5:HPO","systematicName":"M36948","pmid":"","exactSource":"HP:0006897","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006897","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABDUCENS_PALSY","geneSymbols":["AIP","CCDC174","CDH23","MEN1","MYMK","NAXE","PSAP","TBC1D2B","TMEM67","TRPV4","WDR26"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FUSION_OF_THE_CEREBELLAR_HEMISPHERES":{"collection":"C5:HPO","systematicName":"M41346","pmid":"","exactSource":"HP:0006899","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006899","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FUSION_OF_THE_CEREBELLAR_HEMISPHERES","geneSymbols":["FKRP","GMPPB","POMGNT1","POMK","POMT1","POMT2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FRONTAL_CORTICAL_ATROPHY":{"collection":"C5:HPO","systematicName":"M36949","pmid":"","exactSource":"HP:0006913","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006913","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FRONTAL_CORTICAL_ATROPHY","geneSymbols":["CYB5A","CYB5R3","GRIA3","HIVEP2","MEF2C","OPHN1","PARS2","POMT2","SCYL2","SPG11","VCP","VPS13A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_AGGRESSIVE_IMPULSIVE_OR_VIOLENT_BEHAVIOR":{"collection":"C5:HPO","systematicName":"M36951","pmid":"","exactSource":"HP:0006919","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006919","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_AGGRESSIVE_IMPULSIVE_OR_VIOLENT_BEHAVIOR","geneSymbols":["ABCA12","ABCA2","ADAT3","ADNP","ADSL","AFF2","AGO1","AGO2","ALDH4A1","ALDH5A1","ALG13","ALG14","AMT","ANK3","AP1G1","AP1S2","APC2","ARID1A","ARID1B","ARID2","ARPC4","ARX","ASXL3","ATG7","ATP13A2","ATP1A1","ATP1A2","ATP1A3","ATP6V0A1","ATP7B","ATP9A","ATRX","ATXN10","AUH","BCAP31","BCL11A","BCOR","BCORL1","BPTF","BRF1","C12orf4","C12orf57","CACNA1A","CACNB4","CAMK2B","CAMK2G","CAMTA1","CASK","CASZ1","CDC42BPB","CDH2","CDKL5","CEP104","CEP152","CEP290","CEP85L","CHD2","CHD5","CHD7","CHD8","CHKA","CHMP2B","CILK1","CLCN2","CLCN3","CLCN4","CLN3","CLN5","CLTCL1","CNTNAP2","CRB1","CRBN","CREBBP","CTNNB1","CUL4B","CUX2","CYP27A1","DCDC2","DCHS1","DDX3X","DEAF1","DGCR2","DGCR6","DGCR8","DHCR7","DMXL2","DNM1","DNM1L","DNMT3A","DPAGT1","DPF2","DPYD","DPYSL5","DYNC1I2","DYRK1A","EBP","ECM1","EEF1A2","EFHC1","EHMT1","EIF2S3","ELP2","ENTPD1","EP300","ESS2","FAT4","FBXL3","FBXW11","FGF14","FIG4","FLII","FMO3","FMR1","FOXG1","FOXP1","FRMPD4","FRRS1L","FTSJ1","GABBR2","GABRA1","GABRB3","GABRD","GAMT","GATAD2B","GDAP2","GJA5","GJA8","GJB2","GLDC","GLS","GNAO1","GNB1","GNS","GRIA1","GRIA2","GRIA3","GRIK2","GRIN1","GRIN2A","GRM7","GRN","GUCY2D","H4C5","HDAC4","HDC","HECTD4","HECW2","HEPHL1","HERC2","HIVEP2","HNRNPH2","HPRT1","HSD17B10","HSPG2","HTR2A","HTRA1","HTT","IFNG","IMPA1","INPP5E","IQSEC1","IQSEC2","JARID2","JRK","KARS1","KAT5","KCNA1","KCNAB2","KCNQ3","KCNT1","KDM3B","KDM4B","KDM5B","KDM5C","KIF11","KIF15","KIF5C","KMT2A","KMT2C","KMT2E","KMT5B","KNL1","KPTN","LARP7","LEPR","LINGO1","LINS1","LMAN2L","LUZP1","MAB21L1","MADD","MAGEL2","MAN1B1","MANBA","MAOA","MAPK1","MAPK10","MAPT","MBD5","MECP2","MED12","MED12L","MED13L","MED25","METTL5","MGAT2","MKRN3","MMP23B","MYT1L","NAA10","NAGLU","NAGS","NALCN","NAT8L","NAXD","NBEA","NDE1","NDN","NDP","NDST1","NEUROD2","NEXMIF","NFASC","NFIB","NFIX","NIPA1","NIPA2","NIPBL","NKAP","NMNAT1","NONO","NPAP1","NRCAM","NSD1","NSD2","NSDHL","NTNG2","NTRK1","OCA2","OCRL","ODC1","OPHN1","PACS1","PAH","PAK3","PANK2","PCDH19","PDE2A","PDPN","PGM2L1","PHIP","PIDD1","PIGF","PIGH","PIGL","PIGP","PIGQ","PIGY","PLA2G6","PNKP","POGZ","POU4F1","PPP2CA","PPP2R5D","PRDM16","PRKAR1B","PRKCZ","PRNP","PRODH","PRRT2","PSEN1","PSMB1","PSMD12","PTCHD1","PUS3","PUS7","PWAR1","PWRN1","PYCR2","RAI1","RBBP8","RBL2","RERE","RFX7","RHOBTB2","RLIM","RNU7-1","RORB","RPE65","RPL10","RPS6KA3","RTTN","RUSC2","SARS1","SASS6","SATB2","SCN1A","SCN1B","SCN2A","SETBP1","SETD1A","SETD2","SH2B1","SHANK3","SHMT2","SHQ1","SIK1","SIM1","SIN3A","SKI","SLC1A3","SLC1A4","SLC25A13","SLC25A22","SLC2A1","SLC2A3","SLC32A1","SLC52A2","SLC6A17","SLC6A4","SLC6A8","SLITRK1","SLITRK2","SMARCA2","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SMG8","SNORD115-1","SNORD116-1","SNRPN","SOX11","SOX4","SOX5","SPAST","SPATA5","SPEN","SPOP","SPR","SPTBN1","SQSTM1","SRCAP","STEEP1","STT3A","SUCLG1","SUPT16H","SVBP","SYN1","SYT1","TAOK1","TBC1D23","TBP","TBX1","TCF20","TCF4","TDO2","TFE3","THOC2","TIMM50","TKT","TMCO1","TMEM106B","TMEM147","TMEM222","TMEM231","TMEM240","TMEM67","TRAPPC10","TREM2","TREX1","TRIM8","TRIO","TRIP12","TSC1","TSC2","TTC19","TTC5","TTI2","TUBG1","TULP1","TYROBP","UBE2A","UBE3C","UBE4A","UBE4B","UBTF","UNC80","UQCC2","UROC1","USP7","USP9X","VAMP2","VCP","VPS13A","VPS16","WAC","WARS2","WASF1","WASHC4","WDR45","WDR62","ZBTB20","ZMIZ1","ZMYND11"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CONGENITAL_NYSTAGMUS":{"collection":"C5:HPO","systematicName":"M36952","pmid":"","exactSource":"HP:0006934","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006934","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONGENITAL_NYSTAGMUS","geneSymbols":["ADAR","ARHGEF2","ATP6V1B2","CNGB3","EXOSC9","FRMD7","GRIK2","HMX1","HPS3","KRT14","KRT5","LRP5","MT-ATP6","NUP54","NUP62","PAX6","PGAP1","ROBO1","TBC1D24","TMEM106B","TRPV6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_IMPAIRED_DISTAL_TACTILE_SENSATION":{"collection":"C5:HPO","systematicName":"M36953","pmid":"","exactSource":"HP:0006937","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006937","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRED_DISTAL_TACTILE_SENSATION","geneSymbols":["ADA2","ATL1","ATL3","ATXN1","BSCL2","DCAF8","DHH","GDAP1","HARS1","KLHL9","MORC2","MPV17","MTRFR","NDRG1","PNPT1","POLG","RAB7A","SETX","SPTLC1","SPTLC2","TWNK","VCP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_IMPAIRED_VIBRATION_SENSATION_AT_ANKLES":{"collection":"C5:HPO","systematicName":"M36954","pmid":"","exactSource":"HP:0006938","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006938","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRED_VIBRATION_SENSATION_AT_ANKLES","geneSymbols":["ABCD1","ALDH18A1","AMPD2","B4GALNT1","CACNA1G","GBA2","KCND3","PRKCG","REEP2","SPART","SPAST","UCHL1","XK"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RECURRENT_MENINGITIS":{"collection":"C5:HPO","systematicName":"M47118","pmid":"","exactSource":"HP:0006946","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006946","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_MENINGITIS","geneSymbols":["C1QC","CFI","IL2RG","MYD88","WAS"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RETROCEREBELLAR_CYST":{"collection":"C5:HPO","systematicName":"M36955","pmid":"","exactSource":"HP:0006951","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006951","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETROCEREBELLAR_CYST","geneSymbols":["AHDC1","DOCK6","GRIA3","GRM1","OPHN1","PDGFRB","SNX14","TMTC3","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_OLIVOPONTOCEREBELLAR_HYPOPLASIA":{"collection":"C5:HPO","systematicName":"M36956","pmid":"","exactSource":"HP:0006955","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006955","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OLIVOPONTOCEREBELLAR_HYPOPLASIA","geneSymbols":["ATXN2","FKRP","GMPPB","MINPP1","PMM2","POMGNT1","POMK","POMT1","POMT2","PPP2R1A","RTTN","TOE1","TSEN54"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LATERAL_VENTRICLE_DILATATION":{"collection":"C5:HPO","systematicName":"M36957","pmid":"","exactSource":"HP:0006956","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006956","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LATERAL_VENTRICLE_DILATATION","geneSymbols":["AARS2","ADNP","AHI1","ALDH6A1","ALG2","ASXL3","ATP6AP2","BICD2","CCDC174","CLCN3","CLTC","COASY","COG1","COG5","CSPP1","CUX1","D2HGDH","DCX","DOCK6","DTYMK","EIF2B5","EML1","EZH2","FBXW11","GAN","GCDH","GFM2","GLUL","GRIN1","GRN","HS6ST2","KCNJ6","KCTD1","KDM6A","KIAA0586","KIAA0753","KIDINS220","KLHL15","KMT2D","LARGE1","LIPT2","LONP1","MAPKAPK5","MED25","MEF2C","MTHFS","NDUFB11","NEK1","NFIX","ODC1","PDHA1","PGAP3","PIGA","PPP2R5D","PSAT1","PTPN23","PUS3","RAB3GAP1","RAC1","RNU4ATAC","RNU7-1","SATB1","SLC35A2","SMG9","SNRPN","SON","SPG11","SPRED2","TAF8","TAOK1","TMEM147","TNFRSF11A","TTC26","TTC5","TUBB2B","TUBB3","TYROBP","USP18","VPS13A","VPS51","VRK1","WARS2","YIPF5","YY1","ZEB2","ZIC1","ZIC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_AUDITORY_EVOKED_POTENTIALS":{"collection":"C5:HPO","systematicName":"M36959","pmid":"","exactSource":"HP:0006958","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006958","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_AUDITORY_EVOKED_POTENTIALS","geneSymbols":["ARHGEF2","CYP27A1","DIAPH3","EBP","EDNRB","ERCC4","ERCC6","ERCC8","GALC","GJC2","HIKESHI","KARS1","LMNB1","MOGS","MTMR2","MYH3","NDRG1","NEFL","NMNAT1","OPA1","OTOF","PSAP","RIPOR2","SH3TC2","SOX10","SPTBN4","TIMM8A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_JERKY_HEAD_MOVEMENTS":{"collection":"C5:HPO","systematicName":"M36960","pmid":"","exactSource":"HP:0006961","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006961","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_JERKY_HEAD_MOVEMENTS","geneSymbols":["CACNA1H","DLAT","GABRA1","GABRB3","GABRG2","JRK","MAPT","PIGT","PRNP","SLC2A1","VAMP1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PERIVENTRICULAR_LEUKOMALACIA":{"collection":"C5:HPO","systematicName":"M36961","pmid":"","exactSource":"HP:0006970","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006970","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERIVENTRICULAR_LEUKOMALACIA","geneSymbols":["AARS1","AARS2","AMPD2","ARHGAP31","ARID2","BRF1","CARS1","CDK13","CLCN4","CNTNAP2","DDHD2","DLL4","DOCK6","EDEM3","EOGT","ERCC2","ERCC3","FCSK","GTF2E2","GTF2H5","HK1","LONP1","MORC2","MPLKIP","NDUFC2","NOTCH1","NRCAM","NRROS","OGDHL","OPA1","PC","PDHA1","PDHB","PPFIBP1","PRR12","PUF60","RBPJ","RNF113A","SON","SPATA5L1","TARS1","TBCK","TET3","TPRKB","TRMT1","USP7"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DEFICIT_IN_GRAMMAR":{"collection":"C5:HPO","systematicName":"M41348","pmid":"","exactSource":"HP:0006977","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006977","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEFICIT_IN_GRAMMAR","geneSymbols":["CHMP2B","FOXP2","GALT","GRN","MAPT","PSEN1","TMEM106B","TREM2","VCP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SLEEP_WAKE_CYCLE_DISTURBANCE":{"collection":"C5:HPO","systematicName":"M36962","pmid":"","exactSource":"HP:0006979","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006979","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SLEEP_WAKE_CYCLE_DISTURBANCE","geneSymbols":["APOE","ATP10A","CAMK2A","CDKL5","CDON","CHD8","CSNK1D","DHCR7","DISP1","DLL1","FBXL3","FGF8","FGFR1","FOXH1","GABBR2","GAS1","GLI2","GNS","GRIA3","KIF15","NODAL","PER2","PER3","PLCH1","PSEN2","PTCH1","RAI1","SHH","SIX3","SMC1A","SNRPN","STAG2","STIL","TAF1","TDGF1","TELO2","TGIF1","TIMELESS","UBE3A","ZIC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PROGRESSIVE_LEUKOENCEPHALOPATHY":{"collection":"C5:HPO","systematicName":"M36963","pmid":"","exactSource":"HP:0006980","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006980","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROGRESSIVE_LEUKOENCEPHALOPATHY","geneSymbols":["AARS2","COA8","KIF5A","PLAA","SDHA"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_UPPER_LIMB_SPASTICITY":{"collection":"C5:HPO","systematicName":"M36965","pmid":"","exactSource":"HP:0006986","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006986","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UPPER_LIMB_SPASTICITY","geneSymbols":["ACTL6B","ALS2","B4GALNT1","CLCN4","CYP7B1","DDHD2","ERLIN2","FUS","GBA2","GJC2","HEPACAM","KIF5A","PIGA","RARS2","RNF170","SATB1","SELENOI","SIGMAR1","SPART","SPG11","SPTLC1","TBCD","THOC2","TMEM63C","UBAP1","WASHC5","ZFYVE26"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ALOBAR_HOLOPROSENCEPHALY":{"collection":"C5:HPO","systematicName":"M46121","pmid":"","exactSource":"HP:0006988","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006988","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ALOBAR_HOLOPROSENCEPHALY","geneSymbols":["FGFR1","PLCH1","PTCH1","SIX3","STAG2","ZIC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DYSPLASTIC_CORPUS_CALLOSUM":{"collection":"C5:HPO","systematicName":"M36966","pmid":"","exactSource":"HP:0006989","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006989","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DYSPLASTIC_CORPUS_CALLOSUM","geneSymbols":["AGTPBP1","ATAD3A","ATPAF2","C2orf69","DCHS1","DDB1","DENND5A","EARS2","FAT4","GPSM2","HSPA9","KAT5","KIAA0586","LMNB1","MCOLN1","NDUFB7","NONO","NSRP1","NT5C2","ODC1","PIGH","PIK3C2A","PLXNA1","PPP1R12A","PRORP","PTDSS1","PUS3","RTTN","SEPSECS","SIN3A","SIN3B","SON","STXBP1","SVBP","TBCK","THOC6","TSEN15","TSEN2","TSEN34","TSEN54","TUBA1A","TUBA8","WARS1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BASAL_GANGLIA_GLIOSIS":{"collection":"C5:HPO","systematicName":"M36967","pmid":"","exactSource":"HP:0006999","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0006999","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BASAL_GANGLIA_GLIOSIS","geneSymbols":["ADAR","FARS2","LONP1","MT-ATP6","NUP54","NUP62","PDHA1","PRNP","SCO2","VRK1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MORNING_MYOCLONIC_JERKS":{"collection":"C5:HPO","systematicName":"M36968","pmid":"","exactSource":"HP:0007000","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007000","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MORNING_MYOCLONIC_JERKS","geneSymbols":["CACNB4","CILK1","CLCN2","CSTB","EFHC1","GABRA1","GABRD","JRK","KCNQ3","PRICKLE1","SCARB2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LOSS_OF_PURKINJE_CELLS_IN_THE_CEREBELLAR_VERMIS":{"collection":"C5:HPO","systematicName":"M36969","pmid":"","exactSource":"HP:0007001","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007001","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOSS_OF_PURKINJE_CELLS_IN_THE_CEREBELLAR_VERMIS","geneSymbols":["ATXN1","CACNA1G","NOP56","SACS","TSEN54"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MOTOR_AXONAL_NEUROPATHY":{"collection":"C5:HPO","systematicName":"M36970","pmid":"","exactSource":"HP:0007002","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007002","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MOTOR_AXONAL_NEUROPATHY","geneSymbols":["AAAS","AGTPBP1","AIFM1","ATL1","ATL3","C19orf12","COASY","CTDP1","EXOSC9","GAN","GMPPA","HARS1","HINT1","HMBS","HNRNPA1","HNRNPA2B1","KCNK9","KLC2","KPNA3","LMNA","MORC2","OPA1","PEX10","PLEKHG4","PNPLA6","SLC12A6","SPG7","SPTLC1","SPTLC2","TBCD","TRAPPC11","VCP","VWA1","WARS1","WDR48","XK"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_POOR_FINE_MOTOR_COORDINATION":{"collection":"C5:HPO","systematicName":"M36971","pmid":"","exactSource":"HP:0007010","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007010","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POOR_FINE_MOTOR_COORDINATION","geneSymbols":["ACTA1","ADGRV1","ALMS1","ATP9A","CUX1","CXCR4","DARS2","DCC","DLK1","DMPK","DNAL4","EZH2","FMR1","FOCAD","FOXP2","FXN","GABRA1","GABRD","GABRG2","GDAP1","GNB5","GNE","HCN1","HERC2","HTT","KBTBD13","KLHL41","MAGEL2","MEG3","MFN2","MKRN3","MMACHC","MTRFR","MYPN","NEB","NPAP1","NTN1","PCDH19","PDHX","PIEZO2","PPP2R2B","PRNP","PWAR1","PWRN1","RAD51","RAI1","RDH11","RNU12","RTL1","SBF2","SCN1A","SCN1B","SCN2A","SCN9A","SLC2A3","SLC30A10","SNORD115-1","SNORD116-1","STX1B","THG1L","TPM2","TPM3","VCP","ZEB2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_POOR_GROSS_MOTOR_COORDINATION":{"collection":"C5:HPO","systematicName":"M36972","pmid":"","exactSource":"HP:0007015","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007015","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POOR_GROSS_MOTOR_COORDINATION","geneSymbols":["CAMTA1","CLN5","DCX","FKRP","FOXP2","GDAP1","GMPPB","HERC2","KCNQ2","LARGE1","MAGEL2","MKRN3","NPAP1","PDHX","POMT1","POMT2","PWAR1","PWRN1","SNORD115-1","SNORD116-1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CORTICOSPINAL_TRACT_HYPOPLASIA":{"collection":"C5:HPO","systematicName":"M36973","pmid":"","exactSource":"HP:0007016","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007016","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CORTICOSPINAL_TRACT_HYPOPLASIA","geneSymbols":["DEAF1","FLII","IQSEC2","L1CAM","PDHB","RAI1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ATTENTION_DEFICIT_HYPERACTIVITY_DISORDER":{"collection":"C5:HPO","systematicName":"M36974","pmid":"","exactSource":"HP:0007018","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007018","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ATTENTION_DEFICIT_HYPERACTIVITY_DISORDER","geneSymbols":["AARS1","ABCD1","ACTL6B","ADGRL1","ADH5","ADNP","AGO1","AGO2","ALKBH8","ANAPC1","ANKRD11","ANKRD17","AP2M1","AP3B2","APC2","ARID2","ARPC4","ARV1","ARVCF","ASPM","ATP1A2","ATP1A3","ATP6V0A1","ATP6V1A","ATP9A","AUTS2","BAP1","BAZ1B","BCL7B","BCORL1","BCR","BMPR1A","BRD4","BUD23","C12orf4","CABP4","CACNA1A","CACNA1B","CACNA1C","CACNA1H","CACNA2D1","CAMTA1","CARS1","CDC42BPB","CDH11","CDH2","CDK19","CDK8","CDKN1C","CDON","CELF2","CHD2","CHD3","CHD5","CHD7","CHD8","CHRNA2","CHRNA4","CHRNA7","CHRNB2","CIC","CLIP2","CLTC","CNKSR2","CNTNAP2","COMT","CORO1A","CRBN","CRH","CRKL","CSGALNACT1","CSNK2A1","CYFIP2","CYP27A1","DALRD3","DCDC2","DDB1","DEAF1","DEPDC5","DHCR7","DHDDS","DHTKD1","DISP1","DLG3","DLL1","DNAJC12","DNAJC30","DNM1","DPH1","DPH2","DRD4","DRD5","DYNC1I2","DYRK1A","EEF1A2","EIF2AK1","EIF4H","ELN","EPCAM","FAN1","FANCD2","FANCL","FBXO28","FGD1","FGF12","FGF13","FGF8","FGFR1","FGFR3","FKBP6","FLG","FLI1","FLII","FMR1","FOXG1","FOXH1","FOXP1","FZR1","GABBR2","GABRA1","GABRA2","GABRA5","GABRB2","GABRB3","GABRG2","GALC","GALT","GAS1","GATA4","GLI2","GLUD1","GNAQ","GNB1","GNB5","GNE","GP1BB","GRIA1","GRIK2","GRIN2A","GRIN2D","GTF2I","GTF2IRD1","GTF2IRD2","H4C5","HCN1","HDAC4","HDAC8","HDC","HEPACAM","HERC2","HIRA","HMGA2","HNRNPH2","HNRNPK","HNRNPR","HOXA2","HSPG2","IFNG","IGF1","IGF2","IKBKG","IQSEC1","IQSEC2","JARID2","JMJD1C","JRK","KANSL1","KAT5","KAT8","KCNA2","KCNA4","KCNB1","KCNN2","KCNT1","KDM3B","KDM4B","KIF11","KIF14","KMT2B","KMT5B","KPNA3","KRAS","LGI3","LHCGR","LIG4","LIMK1","LMAN2L","MADD","MAGEL2","MAP1B","MAPK1","MCTP2","MED12","MED12L","MED13","METTL27","METTL5","MKRN3","MLH1","MLH3","MLXIPL","MSH2","MSH6","NAA15","NBEA","NBN","NCF1","NDP","NECAP1","NEXMIF","NF1","NFIA","NFIB","NIPA1","NIPA2","NIPBL","NKAP","NLGN1","NODAL","NOP56","NPAP1","NR2F1","NSD1","NSUN2","NTRK2","NUS1","OCRL","ODC1","OPHN1","PACS2","PAH","PANK2","PARS2","PCDH19","PCGF2","PCNT","PDGFRB","PDZD8","PHF21A","PHIP","PIDD1","PIEZO2","PIK3CA","PLAG1","PLCH1","PMS1","PMS2","POLA1","PPM1D","PPP1R12A","PPP1R21","PPP2CA","PPP3CA","PRKAR1B","PRKCG","PRKD1","PRNP","PRR12","PSMB1","PTCH1","PTCHD1","PTEN","PUS7","PWAR1","PWRN1","RAD21","RAI1","RERE","RFC2","RFX7","RIC1","RPS20","RREB1","RSRC1","SATB2","SCAPER","SCN1A","SCN3A","SCN8A","SEC24C","SEMA3E","SEMA4A","SETBP1","SETD2","SETD5","SH2B1","SH3KBP1","SHH","SHMT2","SHOC2","SIM1","SIN3A","SIX3","SLC13A5","SLC1A2","SLC25A36","SLC2A1","SLC38A3","SLC6A1","SLC6A19","SLC6A8","SLC7A6OS","SLC9A7","SLF2","SLITRK1","SMARCA2","SMC1A","SMC3","SMC5","SMPD1","SNORD115-1","SNORD116-1","SNRPN","SOX5","SOX6","SPEN","SPG7","SPRED1","SPTBN1","SRCAP","SRPX2","STAG2","STEEP1","STIL","STS","STX1A","SUPT16H","SYNGAP1","SYNJ1","SZT2","TAF1","TANC2","TAOK1","TBC1D23","TBL1X","TBL2","TBX1","TBX2","TDGF1","TET3","TGFBR2","TGIF1","THRB","TIAM1","TIMM8A","TKT","TLK2","TMCO1","TMEM270","TMEM67","TNIK","TNPO2","TNRC6B","TPH2","TRAK1","TRAPPC14","TRIO","TSC1","TSC2","TSHB","TUBA1A","TUBB2B","TUBB3","TUBG1","UBA5","UBE3A","UBE4A","UFD1","UPF3B","USP7","VPS37D","WAC","WBP11","WWOX","YME1L1","YWHAG","YY1","ZBTB20","ZDHHC9","ZIC2","ZMIZ1","ZMYM2","ZNF292"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PROGRESSIVE_SPASTIC_PARAPLEGIA":{"collection":"C5:HPO","systematicName":"M36975","pmid":"","exactSource":"HP:0007020","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007020","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROGRESSIVE_SPASTIC_PARAPLEGIA","geneSymbols":["AP4B1","AP4E1","AP4M1","AP4S1","AP5Z1","ARSI","ATP13A2","CCT5","CPT1C","FA2H","FARS2","FLRT1","HACE1","IBA57","KDM5C","KIDINS220","KIF1A","KLC2","KPNA3","KY","MARS1","MT-ATP6","PGAP1","PLP1","PNPLA6","RAB3GAP2","RTN2","SELENOI","SLC33A1","UBAP1","WASHC5","ZFR"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PAIN_INSENSITIVITY":{"collection":"C5:HPO","systematicName":"M36976","pmid":"","exactSource":"HP:0007021","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007021","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PAIN_INSENSITIVITY","geneSymbols":["ATL1","ATL3","CACNA2D1","CLTCL1","DDHD1","DEAF1","DNM1L","EBF3","GRIA3","HDAC4","IARS2","KDM5C","MECP2","MPV17","NGF","NGLY1","NTRK1","PRDM12","RFX7","SCN11A","SCN9A","SPTLC1","SPTLC2","TDP1","TMEM218","TRIO","TRPM3","ZFHX2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PSEUDOBULBAR_PARALYSIS":{"collection":"C5:HPO","systematicName":"M36977","pmid":"","exactSource":"HP:0007024","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007024","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PSEUDOBULBAR_PARALYSIS","geneSymbols":["ACTB","ADGRG1","ALDH18A1","ALS2","B4GALNT1","CYP27A1","DCTN1","FIG4","HMBS","HTRA1","LMNB1","NEFH","NONO","NOTCH3","NUS1","PI4KA","PRPH","RARS1","SEC31A","SOD1","SRPX2","TGM6","ZFYVE26"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CEREBRAL_BERRY_ANEURYSM":{"collection":"C5:HPO","systematicName":"M36978","pmid":"","exactSource":"HP:0007029","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007029","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CEREBRAL_BERRY_ANEURYSM","geneSymbols":["ANGPTL6","COL3A1","ENG","PKD1","TGFBR3","THSD1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CEREBELLAR_DYSPLASIA":{"collection":"C5:HPO","systematicName":"M36979","pmid":"","exactSource":"HP:0007033","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007033","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CEREBELLAR_DYSPLASIA","geneSymbols":["ADGRG1","ARMC9","B3GALNT2","BLTP1","CDC42","COG1","FKRP","FKTN","GPSM2","IDH1","KIAA0586","LAMA1","LARGE1","MICU1","PI4KA","POMGNT1","POMT1","POMT2","PTEN","RAC1","RXYLT1","SRPX2","THOC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_GENERALIZED_HYPERREFLEXIA":{"collection":"C5:HPO","systematicName":"M36980","pmid":"","exactSource":"HP:0007034","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007034","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENERALIZED_HYPERREFLEXIA","geneSymbols":["AARS1","ABCD1","CARS1","EEF2","ERCC2","ERCC3","GTF2E2","GTF2H5","MPLKIP","NADK2","RNF113A","SLC25A12","SLC2A1","SLC52A3","SPG7","TARS1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPOPLASIA_OF_OLFACTORY_TRACT":{"collection":"C5:HPO","systematicName":"M36981","pmid":"","exactSource":"HP:0007036","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007036","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASIA_OF_OLFACTORY_TRACT","geneSymbols":["CPLANE1","FAM149B1","KIAA0753","KIF7","OFD1","PDE6D","SOX9","TCTN3","TMEM216","TOPORS"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CHRONIC_LYMPHOCYTIC_MENINGITIS":{"collection":"C5:HPO","systematicName":"M41350","pmid":"","exactSource":"HP:0007041","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007041","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHRONIC_LYMPHOCYTIC_MENINGITIS","geneSymbols":["CIITA","RFX5","RFXANK","RFXAP","SLC35C1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FOCAL_WHITE_MATTER_LESIONS":{"collection":"C5:HPO","systematicName":"M36982","pmid":"","exactSource":"HP:0007042","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007042","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOCAL_WHITE_MATTER_LESIONS","geneSymbols":["ADNP","MTOR","MTRFR","PDP1","PIK3C2A","POLG","POLG2","RNASET2","RRM2B","SLC25A4","TREX1","TSC1","TSC2","TWNK","ZEB2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MULTIFOCAL_CEREBRAL_WHITE_MATTER_ABNORMALITIES":{"collection":"C5:HPO","systematicName":"M36984","pmid":"","exactSource":"HP:0007052","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007052","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MULTIFOCAL_CEREBRAL_WHITE_MATTER_ABNORMALITIES","geneSymbols":["ADAR","D2HGDH","GAA","IFIH1","LSM11","NOTCH3","PUS3","RNASEH2A","RNASEH2B","RNASEH2C","RNU7-1","SAMHD1","SLC25A15","TRAPPC9","TREX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PROXIMAL_HYPERREFLEXIA":{"collection":"C5:HPO","systematicName":"M46122","pmid":"","exactSource":"HP:0007054","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007054","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROXIMAL_HYPERREFLEXIA","geneSymbols":["ABCC9","ALDH18A1","ANO10","ARL6IP1","ATP13A2","CAPN1","COX4I1","CYP2U1","ERLIN2","FAR1","FLRT1","FTL","HARS1","HEXB","HSPD1","IBA57","KIF5A","KLC2","KPNA3","MTPAP","NONO","PGM3","REEP1","RTN2","SACS","SDHA","SDHAF1","SDHB","SDHD","SIGMAR1","SPAST","SPG11","SPTLC2","TMEM63C","TNR","UBAP1","VPS37A","WASHC5"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_GENERALIZED_CEREBRAL_ATROPHY_HYPOPLASIA":{"collection":"C5:HPO","systematicName":"M36985","pmid":"","exactSource":"HP:0007058","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007058","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENERALIZED_CEREBRAL_ATROPHY_HYPOPLASIA","geneSymbols":["ADGRV1","CLN3","GABRD","GABRG2","HCN1","PLA2G6","SCN1A","SCN1B","SCN2A","SCN9A","STX1B","TBP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DISTAL_PERIPHERAL_SENSORY_NEUROPATHY":{"collection":"C5:HPO","systematicName":"M36986","pmid":"","exactSource":"HP:0007067","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007067","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DISTAL_PERIPHERAL_SENSORY_NEUROPATHY","geneSymbols":["DKK1","GSN","HADHA","HADHB","IBA57","MT-CO1","MT-CO2","MT-CO3","MT-ND1","MT-ND4","MT-ND5","MT-ND6","MT-TF","MT-TH","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TW","SPG11"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INFERIOR_CEREBELLAR_VERMIS_HYPOPLASIA":{"collection":"C5:HPO","systematicName":"M36987","pmid":"","exactSource":"HP:0007068","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007068","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INFERIOR_CEREBELLAR_VERMIS_HYPOPLASIA","geneSymbols":["ASXL3","BMP4","BRF1","GEMIN4","GRM1","INTS1","KIAA0753","L1CAM","LAMA1","MDH1","MED11","PIEZO2","TRAPPC9","VLDLR"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_THICK_CORPUS_CALLOSUM":{"collection":"C5:HPO","systematicName":"M36988","pmid":"","exactSource":"HP:0007074","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007074","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THICK_CORPUS_CALLOSUM","geneSymbols":["ATP1A2","ATP1A3","C12orf57","CAMK2A","CCND2","CNOT3","HERC1","KDM3B","MAST1","NONO","ODC1","PIK3R2","PRMT7","SZT2","TBC1D7","TUBG1","VPS13B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_EXTRAPYRAMIDAL_MUSCULAR_RIGIDITY":{"collection":"C5:HPO","systematicName":"M36989","pmid":"","exactSource":"HP:0007076","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007076","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EXTRAPYRAMIDAL_MUSCULAR_RIGIDITY","geneSymbols":["ADAR","ATP6AP2","CLN3","HLA-DQB1","IFIH1","LSM11","MAPT","MICU1","OPA3","PRNP","RNASEH2A","RNASEH2B","RNASEH2C","RNU7-1","SAMHD1","TAF1","TREX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DECREASED_AMPLITUDE_OF_SENSORY_ACTION_POTENTIALS":{"collection":"C5:HPO","systematicName":"M45422","pmid":"","exactSource":"HP:0007078","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007078","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_AMPLITUDE_OF_SENSORY_ACTION_POTENTIALS","geneSymbols":["ATL1","ATL3","ATXN1","CCT5","DHX16","FXN","GDAP1","HK1","HSPB8","LITAF","LMNA","MORC2","MPV17","NDRG1","NEFL","RFC1","SBF2","SORD","SPTLC1","SPTLC2","TRPV4","UQCRC1","VPS13A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPERACTIVE_PATELLAR_REFLEX":{"collection":"C5:HPO","systematicName":"M36992","pmid":"","exactSource":"HP:0007083","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007083","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERACTIVE_PATELLAR_REFLEX","geneSymbols":["ALDH18A1","ANO10","ARL6IP1","ATP13A2","COX4I1","HARS1","HEXB","IBA57","MTPAP","NONO","PGM3","SACS","SDHA","SDHAF1","SDHB","SDHD","SIGMAR1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SOCIAL_AND_OCCUPATIONAL_DETERIORATION":{"collection":"C5:HPO","systematicName":"M36993","pmid":"","exactSource":"HP:0007086","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007086","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SOCIAL_AND_OCCUPATIONAL_DETERIORATION","geneSymbols":["APOL2","APOL4","CHI3L1","COMT","CREBBP","DAOA","DRD3","EP300","GRIN2A","HTR2A","MAPT","MTHFR","RTN4R","SYN2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CHIARI_TYPE_I_MALFORMATION":{"collection":"C5:HPO","systematicName":"M36994","pmid":"","exactSource":"HP:0007099","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007099","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHIARI_TYPE_I_MALFORMATION","geneSymbols":["CDC45","CREBBP","CSF1R","CWC27","DHCR7","DHDDS","DKK1","DNMT3A","DPF2","ELN","EP300","ERF","FGFR2","H3-3A","HRAS","KANSL1","KRAS","MAF","MLXIPL","NFIA","NFKB2","NONO","NOTCH3","NOVA2","PAX2","PIEZO2","POLR3A","POLR3B","PPP1CB","RAD51","SETBP1","SETD2","SH2B1","SKI","SLC39A14","SMO","SPRED1","STAG1","TAOK1","TMEM94","TRPM3","ZEB2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPOINTENSITY_OF_CEREBRAL_WHITE_MATTER_ON_MRI":{"collection":"C5:HPO","systematicName":"M36995","pmid":"","exactSource":"HP:0007103","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007103","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOINTENSITY_OF_CEREBRAL_WHITE_MATTER_ON_MRI","geneSymbols":["ADORA2A","ADSL","FDXR","GALC","GFM2","KARS1","LAMA2","POLG","PSAP","SAMHD1","TREX1","TYMP","UBE2A","ZEB2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INFANTILE_ENCEPHALOPATHY":{"collection":"C5:HPO","systematicName":"M36996","pmid":"","exactSource":"HP:0007105","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007105","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INFANTILE_ENCEPHALOPATHY","geneSymbols":["CCDC88A","D2HGDH","GCDH","SLC19A3","STXBP1","TK2","TSEN54","ZNHIT3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DEMYELINATING_PERIPHERAL_NEUROPATHY":{"collection":"C5:HPO","systematicName":"M36997","pmid":"","exactSource":"HP:0007108","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007108","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEMYELINATING_PERIPHERAL_NEUROPATHY","geneSymbols":["ABHD12","ACO2","ADAR","AFG3L2","BAG3","COA7","DEGS1","DMXL2","DNAJC3","ERCC2","ERCC3","ERCC4","ERCC5","ERCC6","ERCC8","GDAP1","GJC2","HARS1","HK1","IFIH1","LIG3","LSM11","MANBA","MOGS","MPZ","MT-ATP6","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND5","MT-ND6","MT-TK","MT-TL1","MT-TV","MT-TW","NDRG1","NEFL","NRCAM","PLP1","PMP22","POLG","POLR3B","PTRH2","RFC1","RNASEH1","RNASEH2A","RNASEH2B","RNASEH2C","RNF168","RNU7-1","RRM2B","SACS","SAMHD1","SELENOI","SH3TC2","SLC12A6","SOX10","SPTBN4","TFG","TREX1","TYMP","VRK1","ZFYVE26"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PERIVENTRICULAR_CYSTS":{"collection":"C5:HPO","systematicName":"M36998","pmid":"","exactSource":"HP:0007109","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007109","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERIVENTRICULAR_CYSTS","geneSymbols":["CPLX1","CTBP1","FARSA","FGFRL1","GFAP","LETM1","LIPT2","NSD2","OCRL","ODC1","PDHB","PDHX","UQCC3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CENTRAL_HYPOVENTILATION":{"collection":"C5:HPO","systematicName":"M36999","pmid":"","exactSource":"HP:0007110","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007110","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CENTRAL_HYPOVENTILATION","geneSymbols":["ASCL1","CRLS1","DCTN1","HOXA1","LBX1","MECP2","MYPN","NDUFAF2","PHOX2B","RET","TPM2","TPM3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_TEMPORAL_CORTICAL_ATROPHY":{"collection":"C5:HPO","systematicName":"M37000","pmid":"","exactSource":"HP:0007112","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007112","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TEMPORAL_CORTICAL_ATROPHY","geneSymbols":["ABCA7","ADARB1","BICRA","CAMTA1","CHMP2B","COG1","CPA6","CYB5A","CYB5R3","GRM7","GRN","MAPT","NEK1","OPHN1","PDE6D","PSEN1","RNU4ATAC","SLITRK2","TMEM106B","TREM2","VCP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PROXIMAL_AMYOTROPHY":{"collection":"C5:HPO","systematicName":"M37001","pmid":"","exactSource":"HP:0007126","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007126","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROXIMAL_AMYOTROPHY","geneSymbols":["ADSS1","ANO5","ARMC5","ATRX","BRAF","CAPN3","CDH23","CRPPA","DNM2","DOK7","DYNC1H1","DYSF","EMD","FHL1","FKRP","FKTN","FUS","GFPT1","GNAS","HNRNPDL","INPP5K","LMNA","MGME1","MORC2","MT-TE","MTMR14","MYH7","NEFL","NR3C1","PEX6","POMT1","POMT2","REEP1","RYR1","SGCB","SGCD","SLC12A6","SMN1","SMN2","SPG11","SPTLC1","STIM1","SYNE1","SYNE2","SYT2","TCAP","TFG","TMEM43","TNNT1","TNXB","TP53","TRIM32","TRPV4","USP48","USP8","VAPB","VMA21"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PROGRESSIVE_PERIPHERAL_NEUROPATHY":{"collection":"C5:HPO","systematicName":"M37002","pmid":"","exactSource":"HP:0007133","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007133","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROGRESSIVE_PERIPHERAL_NEUROPATHY","geneSymbols":["ABCA1","ARSA","COA8","LYST","PSAP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SENSORIMOTOR_NEUROPATHY":{"collection":"C5:HPO","systematicName":"M37003","pmid":"","exactSource":"HP:0007141","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007141","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SENSORIMOTOR_NEUROPATHY","geneSymbols":["ABCD1","ABHD12","AFG3L2","AHCY","AIFM1","AMACR","ATP1A1","B2M","B4GALNT1","CLCF1","CLP1","COA3","COA8","DHH","DNAJC3","DNM1L","EMILIN1","FDX2","GALC","GBA2","GDAP1","GET4","GJB1","HADHA","HADHB","HSD17B4","IARS2","IFRD1","IGHMBP2","KIF1A","KIF5A","LAMA2","LIG3","LITAF","MCM3AP","MME","MPV17","MPZ","MRE11","MT-ATP6","MT-CO1","MT-CO2","MT-CO3","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND5","MT-ND6","MT-TF","MT-TH","MT-TK","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TV","MT-TW","NEFH","NEFL","NGLY1","OPA1","PDK3","PDYN","PEX6","PEX7","PHYH","PIGB","PIK3R5","PLA2G6","PMP22","PNKP","POLG","PPP2R2B","PSAP","RAB7A","RFC1","RNASEH1","RPIA","RRM2B","SACS","SCO2","SCYL1","SETX","SH3TC2","SLC25A46","SLC30A10","SLC52A2","SPG11","SPTLC2","TDP1","TFG","TYMP","UCHL1","VCP","VPS13D","VPS41","VRK1","XRCC1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PROGRESSIVE_EXTRAPYRAMIDAL_MOVEMENT_DISORDER":{"collection":"C5:HPO","systematicName":"M37005","pmid":"","exactSource":"HP:0007153","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007153","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROGRESSIVE_EXTRAPYRAMIDAL_MOVEMENT_DISORDER","geneSymbols":["ATP13A2","CLPB","FA2H","GAMT","MICU1","PLA2G6","RARS1","WDR73","ZNF592"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FLUCTUATIONS_IN_CONSCIOUSNESS":{"collection":"C5:HPO","systematicName":"M37006","pmid":"","exactSource":"HP:0007159","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007159","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FLUCTUATIONS_IN_CONSCIOUSNESS","geneSymbols":["ALAD","GBA1","MEN1","MT-CO1","MT-CO2","MT-CO3","MT-ND1","MT-ND4","MT-ND5","MT-ND6","MT-TF","MT-TH","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TW","SLC25A13","SNCA","SNCB","YY1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SLOWED_SLURRED_SPEECH":{"collection":"C5:HPO","systematicName":"M37007","pmid":"","exactSource":"HP:0007164","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007164","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SLOWED_SLURRED_SPEECH","geneSymbols":["DNAJC6","MAPT","PIDD1","PODXL","SPG7","SYNJ1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PERIVENTRICULAR_HETEROTOPIA":{"collection":"C5:HPO","systematicName":"M37008","pmid":"","exactSource":"HP:0007165","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007165","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERIVENTRICULAR_HETEROTOPIA","geneSymbols":["ADGRL1","ALDH6A1","ANKRD11","APC2","ARF1","ARFGEF2","C2CD3","CDH2","CPLANE1","CPLX1","CSF1R","CSGALNACT1","DCHS1","DHCR7","DHX16","ERMARD","FAT4","FLNA","FMR1","INTS8","KAT6B","KAT8","KATNB1","MAN1B1","MAP1B","MAST1","NEDD4L","NRCAM","PDHB","PLCH1","PLK4","PRORP","RTTN","SLC25A24","TBC1D24","TMTC3","TUBA1A","VPS35L","ZEB2","ZMIZ1","ZNF292","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PAROXYSMAL_DYSKINESIA":{"collection":"C5:HPO","systematicName":"M37009","pmid":"","exactSource":"HP:0007166","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007166","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PAROXYSMAL_DYSKINESIA","geneSymbols":["ADCY5","ATP1A2","ATP1A3","CACNA1A","GRIN1","KCNMA1","MECR","PDE2A","PNKD","PRRT2","SCN8A","SH2B1","SLC1A3","SLC2A1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MOTOR_POLYNEUROPATHY":{"collection":"C5:HPO","systematicName":"M37010","pmid":"","exactSource":"HP:0007178","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007178","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MOTOR_POLYNEUROPATHY","geneSymbols":["AGRN","AIFM1","ALAD","ALDH18A1","ARL6IP1","BSCL2","CHAT","COL13A1","CPOX","CPSF3","CTDP1","GARS1","GJC2","HINT1","HMBS","LYST","MYO9A","NEFL","PPOX","PRPS1","REEP1","RNASEH1","SCO2","SELENOI","SLC12A6","SLC18A3","SLC25A1","SLC5A7","SNAP25","SPG11","SYNE1","SYT2","TFG","TRPV4","UBA1","VAMP1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INTEROSSEUS_MUSCLE_ATROPHY":{"collection":"C5:HPO","systematicName":"M46123","pmid":"","exactSource":"HP:0007181","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007181","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTEROSSEUS_MUSCLE_ATROPHY","geneSymbols":["BSCL2","GARS1","REEP1","SLC5A6","TOR1AIP1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PERIPHERAL_HYPOMYELINATION":{"collection":"C5:HPO","systematicName":"M37011","pmid":"","exactSource":"HP:0007182","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007182","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERIPHERAL_HYPOMYELINATION","geneSymbols":["ADCY6","CTDP1","DHX16","EGR2","FGD4","FIG4","HK1","KCNJ10","SOX10"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FOCAL_T2_HYPERINTENSE_BASAL_GANGLIA_LESION":{"collection":"C5:HPO","systematicName":"M41351","pmid":"","exactSource":"HP:0007183","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007183","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOCAL_T2_HYPERINTENSE_BASAL_GANGLIA_LESION","geneSymbols":["ALG2","ETHE1","GFAP","LRPPRC","MECR","MT-ATP6","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND5","MT-ND6","MT-TK","MT-TL1","MT-TV","MT-TW","NDUFS1","NDUFS4","PDE10A","PDSS2","PRNP","SPG11","SUCLG1","TACO1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LOSS_OF_CONSCIOUSNESS":{"collection":"C5:HPO","systematicName":"M37012","pmid":"","exactSource":"HP:0007185","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007185","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOSS_OF_CONSCIOUSNESS","geneSymbols":["ABCC8","ACADM","ADORA2A","CPT1A","GCDH","GK","GLYCTK","HNF1A","KCNE1","KCNJ11","KCNQ1","MT-CYB","MTRR","NAB2","NAGS","NOTCH2NLC","NOTCH3","RNU4ATAC","SLC19A3","STAT6","TBK1","TICAM1","TLR3","TRAF3","UCP2","UNC93B1","UPB1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NEURONAL_LOSS_IN_THE_CEREBRAL_CORTEX":{"collection":"C5:HPO","systematicName":"M37013","pmid":"","exactSource":"HP:0007190","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007190","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEURONAL_LOSS_IN_THE_CEREBRAL_CORTEX","geneSymbols":["CHCHD10","FUS","PC","PIGA","SQSTM1","TARDBP","TBK1","VCP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PROGRESSIVE_SPASTIC_PARAPARESIS":{"collection":"C5:HPO","systematicName":"M37014","pmid":"","exactSource":"HP:0007199","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007199","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROGRESSIVE_SPASTIC_PARAPARESIS","geneSymbols":["ABCD1","CPT1C","FA2H","GALC","SELENOI","SPG7","TBCE"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DIFFUSE_WHITE_MATTER_ABNORMALITIES":{"collection":"C5:HPO","systematicName":"M37015","pmid":"","exactSource":"HP:0007204","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007204","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DIFFUSE_WHITE_MATTER_ABNORMALITIES","geneSymbols":["ARX","CASK","CDKL5","DMXL2","FKRP","GLB1","GMPPB","GNAO1","GRIN1","GRM7","HEPACAM","HERC1","HTRA1","KCNA1","NEUROD2","OSTM1","PIGP","PIGQ","PLEKHG2","PLP1","PNKP","POMGNT1","POMK","POMT1","POMT2","RIN2","SCN1B","SCN2A","SIK1","SLC12A6","SLC25A22","SLC32A1","TIMM50","TRIM8","VPS11"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HEMIMEGALENCEPHALY":{"collection":"C5:HPO","systematicName":"M37016","pmid":"","exactSource":"HP:0007206","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007206","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEMIMEGALENCEPHALY","geneSymbols":["AKT3","DEPDC5","HRAS","IFNG","KRAS","MTOR","NPRL2","NPRL3","NRAS","PIK3CA","PTEN","SMO","TSC1","TSC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PHOTOSENSITIVE_TONIC_CLONIC_SEIZURE":{"collection":"C5:HPO","systematicName":"M43332","pmid":"","exactSource":"HP:0007207","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007207","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PHOTOSENSITIVE_TONIC_CLONIC_SEIZURE","geneSymbols":["CACNB4","CILK1","CLCN2","EFHC1","GABRA1","GABRD","GABRG2","JRK","KCNQ3","PCDH19","SCN1A","SCN1B","SCN2A","SCN9A","SLC9A6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FACIAL_PARALYSIS":{"collection":"C5:HPO","systematicName":"M41352","pmid":"","exactSource":"HP:0007209","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007209","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FACIAL_PARALYSIS","geneSymbols":["ATP1A2","CACNA1A","CLCN7","COL4A1","MTRFR","NFU1","PRRT2","SCN1A","SH3TC2","TCIRG1","TNFSF11"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LOWER_LIMB_AMYOTROPHY":{"collection":"C5:HPO","systematicName":"M37017","pmid":"","exactSource":"HP:0007210","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007210","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOWER_LIMB_AMYOTROPHY","geneSymbols":["AARS1","ADSS1","AIFM1","AIMP1","ALS2","ANO5","ARSI","ATAD3A","ATL1","ATXN3","B4GALNT1","BICD2","BSCL2","CADM3","CPT1C","CUL4B","CYP7B1","DNAJB2","DYSF","FARS2","FBLN5","FBXO38","FGD4","FITM2","FLNC","FLRT1","GIPC1","GJB1","GNB4","GNE","HINT1","HK1","HSPB1","HSPB3","HYCC1","INF2","KAT6A","KDM5C","KIF1A","KIF5A","KLC2","KRT14","KRT5","KY","LAMP2","LMNA","LRP12","MAG","MFN2","MME","MORC2","MT-TE","MTRFR","MYH7","MYPN","NDRG1","NEFH","NEFL","NEXMIF","NOTCH2NLC","PDK3","PDXK","PLP1","PMP22","RAB7A","RILPL1","RTN2","RYR1","SLC12A6","SLC33A1","SPG11","TCAP","TFG","TPM2","TPM3","TRPV4","UBAP1","VWA1","WARS1","YY1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DEMYELINATING_MOTOR_NEUROPATHY":{"collection":"C5:HPO","systematicName":"M47119","pmid":"","exactSource":"HP:0007220","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007220","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEMYELINATING_MOTOR_NEUROPATHY","geneSymbols":["GJC2","NEFL","RNASEH1","SELENOI","TFG"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MACROGYRIA":{"collection":"C5:HPO","systematicName":"M37018","pmid":"","exactSource":"HP:0007227","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007227","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MACROGYRIA","geneSymbols":["ACTB","ACTG1","B3GALNT2","B4GAT1","CASK","COL4A1","CRPPA","DAG1","DHCR24","FKRP","FKTN","LARGE1","NFIX","PEX2","PLP1","POMGNT1","POMGNT2","POMK","POMT1","POMT2","RXYLT1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INTRACEREBRAL_PERIVENTRICULAR_CALCIFICATIONS":{"collection":"C5:HPO","systematicName":"M46124","pmid":"","exactSource":"HP:0007229","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007229","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTRACEREBRAL_PERIVENTRICULAR_CALCIFICATIONS","geneSymbols":["CPT2","IFIH1","SAMHD1","SLC2A1","SNORD118","TREX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DECREASED_DISTAL_SENSORY_NERVE_ACTION_POTENTIAL":{"collection":"C5:HPO","systematicName":"M45423","pmid":"","exactSource":"HP:0007230","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007230","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_DISTAL_SENSORY_NERVE_ACTION_POTENTIAL","geneSymbols":["GDAP1","HK1","LITAF","MORC2","MPV17","NEFL","RFC1","SBF2","TRPV4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PROGRESSIVE_GAIT_ATAXIA":{"collection":"C5:HPO","systematicName":"M37019","pmid":"","exactSource":"HP:0007240","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007240","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROGRESSIVE_GAIT_ATAXIA","geneSymbols":["ALDH18A1","ANO10","ARSA","ATP13A2","ATP1A2","ATXN3","CACNA1A","EEF2","FA2H","GABRA1","GABRG2","GJB1","MT-ATP6","MTPAP","PCDH19","PEX10","POLG","PRRT2","PSAP","SACS","SCN1A","SCN1B","SCN2A","SCN9A","SETX","SNRPN","SPTBN2","TPP1","TWNK","UBE3A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_PYRAMIDAL_SIGN":{"collection":"C5:HPO","systematicName":"M37020","pmid":"","exactSource":"HP:0007256","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007256","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PYRAMIDAL_SIGN","geneSymbols":["AAAS","AARS1","AARS2","ABCB7","ABCD1","ABHD12","ABHD16A","ACADS","ACOX1","ADAR","ADD3","ADGRG1","ADPRS","AFG3L2","AIFM1","AIMP1","ALDH18A1","ALDH3A2","ALG13","ALS2","AMPD2","ANO10","ANXA11","AP2M1","AP4B1","AP4E1","AP4M1","AP4S1","APOE","ARSA","ARX","ASPA","ATG5","ATL1","ATP13A2","ATP1A2","ATP1A3","ATP2B3","ATP6AP2","ATP7A","ATXN1","ATXN10","ATXN2","ATXN3","ATXN7","ATXN8OS","B4GALNT1","BCAP31","BCAT2","BICD2","BMPR1A","BRAT1","BSCL2","C19orf12","C4A","CACNA1A","CACNA1G","CAMSAP1","CAMTA1","CAPN1","CARS1","CAV1","CCR1","CCT5","CHCHD10","CHD2","CHMP2B","CHP1","CLDN11","CLPB","CNP","CNTNAP1","COA8","COL4A1","COQ2","COQ8A","COX20","CPT1C","CTC1","CTDP1","CTSF","CWF19L1","CYP27A1","CYP2U1","CYP7B1","DARS1","DARS2","DDC","DDHD1","DDHD2","DEGS1","DKK1","DLAT","DMXL2","DNAJC3","DNAJC6","DNM1L","DNMT1","DPM3","DPYS","DSTYK","DTYMK","EARS2","EEF2","EIF2AK2","EIF2S3","ELOVL1","ELOVL4","EPCAM","EPRS1","ERAP1","ERCC2","ERCC3","ERCC6","ERLIN1","ERLIN2","ETHE1","FA2H","FAN1","FAR1","FARS2","FAS","FBXO7","FGF13","FKRP","FTL","FUCA1","FUS","FXN","GALC","GAN","GBA2","GBE1","GCH1","GFAP","GFM2","GJB1","GJC2","GLRX5","GM2A","GMPPB","GPT2","GRIA3","GRID2","GRM1","GTF2E2","GTF2H5","HADHA","HADHB","HEXB","HLA-B","HPDL","HSPD1","HTRA1","HTT","HYCC1","IBA57","IDUA","IFIH1","IFNGR1","IL10","IL12A","IL12A-AS1","IL23R","IMPDH2","IREB2","IRF2BPL","IRF4","JAM2","KARS1","KCNA1","KCNA4","KCNC3","KDM5C","KIF1A","KIF1C","KIF5A","KLC2","KLRC4","KMT2B","KPNA3","KRAS","KY","L2HGDH","LARGE1","LETM1","LIG3","LMNB1","LSM11","LYRM7","MAG","MAN2B1","MAPT","MCOLN1","MDH2","MECP2","MECR","MEFV","MFN2","MLH1","MLH3","MORC2","MPLKIP","MPZ","MSH2","MSH6","MT-ATP6","MT-TE","MTFMT","MTPAP","MTRFR","MTTP","MYORG","NAGA","NALCN","NDE1","NDUFA13","NDUFA4","NDUFS1","NDUFS2","NDUFS4","NDUFS7","NEFH","NEFL","NEXMIF","NFASC","NIPA1","NKX6-2","NOP56","NR4A2","NT5C2","NUBPL","NUP54","NUP62","OPA1","OPA3","PANK2","PARS2","PCYT2","PDGFB","PDGFRB","PDYN","PET117","PEX10","PEX16","PEX7","PGAP1","PHYH","PI4KA","PIGA","PIGT","PIK3CA","PIK3R5","PLA2G6","PLAA","PLP1","PMP2","PMP22","PMS1","PMS2","PNKP","PNPLA6","PNPT1","PODXL","POLG","POLR3A","POLR3B","POMGNT1","POMK","POMT1","POMT2","POU4F1","PPP2R2B","PRICKLE1","PRKRA","PRNP","PRPS1","PRSS12","PSAP","PSEN1","PTEN","PYCR2","RARS1","REEP1","REEP2","RFC1","RNASEH1","RNASEH2A","RNASEH2B","RNASEH2C","RNF113A","RNF170","RNU7-1","RORA","RPS20","RRM2B","RTN2","RTTN","RUSC2","SACS","SAMD9L","SAMHD1","SCN1A","SCN1B","SDHA","SDHAF1","SDHB","SDHD","SELENOI","SEMA4A","SEPSECS","SETX","SHMT2","SIGMAR1","SLC12A5","SLC16A2","SLC19A3","SLC1A2","SLC1A3","SLC1A4","SLC20A2","SLC25A15","SLC25A46","SLC2A1","SLC2A3","SLC33A1","SLC39A14","SLC44A1","SLC6A1","SLC6A3","SLC9A7","SNCA","SNORD118","SNX14","SOD1","SOX10","SPART","SPAST","SPG11","SPG21","SPG7","SQSTM1","STAT4","STUB1","SYNE1","SYNGAP1","SYNJ1","TACO1","TAF2","TANGO2","TARDBP","TARS1","TBC1D20","TBC1D24","TBK1","TBP","TFG","TGFBR2","TGM6","TH","THG1L","TIMM8A","TLR4","TMEM106B","TMEM63A","TMEM63C","TOR1A","TPP1","TREM2","TREX1","TRMT5","TSEN15","TSEN2","TSEN34","TSEN54","TSPOAP1","TTBK2","TTC19","TTPA","TTR","TWNK","TYROBP","UBAC2","UBAP1","UBTF","UCHL1","UFC1","UGDH","VAMP1","VAPB","VCP","VPS13C","VPS13D","VPS41","VWA3B","WASHC5","WWOX","ZFR","ZFYVE26","ZFYVE27"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SEVERE_DEMYELINATION_OF_THE_WHITE_MATTER":{"collection":"C5:HPO","systematicName":"M37021","pmid":"","exactSource":"HP:0007258","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007258","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEVERE_DEMYELINATION_OF_THE_WHITE_MATTER","geneSymbols":["L2HGDH","MMACHC","PIGG","PPP1R15B","PRPS1","PYCR2","TRMT10A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_TYPE_II_LISSENCEPHALY":{"collection":"C5:HPO","systematicName":"M37022","pmid":"","exactSource":"HP:0007260","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007260","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TYPE_II_LISSENCEPHALY","geneSymbols":["B3GALNT2","B4GAT1","CRPPA","FKRP","FKTN","GMPPB","LAMB1","LARGE1","POMGNT1","POMGNT2","POMK","POMT1","POMT2","RXYLT1","TMTC3","TUBB3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CEREBRAL_DYSMYELINATION":{"collection":"C5:HPO","systematicName":"M37023","pmid":"","exactSource":"HP:0007266","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007266","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CEREBRAL_DYSMYELINATION","geneSymbols":["AARS1","ABCD1","ADGRG1","CARS1","CTSK","ERCC2","ERCC3","GTF2E2","GTF2H5","HSD17B4","MCOLN1","MPLKIP","PHGDH","PLP1","PSAP","PTEN","RNF113A","SOX10","TARS1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CHRONIC_AXONAL_NEUROPATHY":{"collection":"C5:HPO","systematicName":"M37024","pmid":"","exactSource":"HP:0007267","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007267","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHRONIC_AXONAL_NEUROPATHY","geneSymbols":["COG8","GDAP1","HSPB1","KCNJ10","SETX","SPTLC1","SYNE1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SPINAL_MUSCULAR_ATROPHY":{"collection":"C5:HPO","systematicName":"M37025","pmid":"","exactSource":"HP:0007269","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007269","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPINAL_MUSCULAR_ATROPHY","geneSymbols":["ASAH1","ASCC1","ATP7A","BICD2","CHCHD10","DNAJB2","DYNC1H1","EXOSC8","FBXO38","IGHMBP2","KCNK9","MORC2","PLEKHG5","SIGMAR1","SMN1","SMN2","TBCE","TK2","TRIP4","TRPV4","UBA1","VAPB","VRK1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ATYPICAL_ABSENCE_SEIZURE":{"collection":"C5:HPO","systematicName":"M37026","pmid":"","exactSource":"HP:0007270","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007270","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ATYPICAL_ABSENCE_SEIZURE","geneSymbols":["AP2M1","CACNA1A","CACNB4","CEP85L","CHD2","CLPB","CUX2","DNM1","EPM2A","FRRS1L","GABRA1","GABRB3","GABRG2","GRIN2A","HNRNPU","KCNB1","KCNMA1","KCNT2","MAPK10","NHLRC1","PAFAH1B1","PCDH19","PPP3CA","SCN1A","SCN1B","SCN2A","SCN9A","SRPX2","SZT2","TRIM8","UBE3A","ZEB2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_OCCIPITAL_MYELOMENINGOCELE":{"collection":"C5:HPO","systematicName":"M46125","pmid":"","exactSource":"HP:0007271","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007271","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OCCIPITAL_MYELOMENINGOCELE","geneSymbols":["ARVCF","COMT","GP1BB","HIRA","INPP5E","JMJD1C","RREB1","SEC24C","TBX1","UFD1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PROGRESSIVE_PSYCHOMOTOR_DETERIORATION":{"collection":"C5:HPO","systematicName":"M37027","pmid":"","exactSource":"HP:0007272","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007272","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROGRESSIVE_PSYCHOMOTOR_DETERIORATION","geneSymbols":["ARSA","BSCL2","CYP27A1","GLB1","HEXB","KCTD7","PMPCA","PSAP","SDHA","SDHAF1","SDHB","SDHD"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DEVELOPMENTAL_STAGNATION":{"collection":"C5:HPO","systematicName":"M37028","pmid":"","exactSource":"HP:0007281","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007281","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEVELOPMENTAL_STAGNATION","geneSymbols":["ACAN","ACER3","CDKL5","GABBR2","GLB1","MCOLN1","MECP2","NTNG1","NUP62","PHGDH","POLR2A","PTPN23","RARS1","SATB1","SCN1B","SMC1A","ST3GAL5","VPS11","ZNHIT3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LIMB_FASCICULATIONS":{"collection":"C5:HPO","systematicName":"M37029","pmid":"","exactSource":"HP:0007289","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007289","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIMB_FASCICULATIONS","geneSymbols":["ATXN10","HINT1","HSPB1","SMN1","SMN2","TFG","TTC19","VCP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_POSTERIOR_FOSSA_CYST":{"collection":"C5:HPO","systematicName":"M37030","pmid":"","exactSource":"HP:0007291","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007291","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POSTERIOR_FOSSA_CYST","geneSymbols":["ABAT","CSPP1","DPH1","DPH2","ERCC5","FGFR2","FKRP","FKTN","GDF6","LARGE1","PDGFRB","PLCH1","POMT1","POMT2","PUF60","SNORD118","VSX1","WASHC5"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_OROMOTOR_APRAXIA":{"collection":"C5:HPO","systematicName":"M37031","pmid":"","exactSource":"HP:0007301","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007301","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OROMOTOR_APRAXIA","geneSymbols":["ADGRG1","CDON","CLTC","DDOST","DISP1","DLL1","FGF8","FGFR1","FOXH1","FOXP1","FOXP2","GAS1","GLI2","NODAL","PI4KA","PLCH1","PTCH1","SHH","SIX3","SMC1A","SRPX2","STAG2","STIL","TDGF1","TGIF1","TUBB2B","VPS11","ZIC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CNS_DEMYELINATION":{"collection":"C5:HPO","systematicName":"M37032","pmid":"","exactSource":"HP:0007305","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007305","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CNS_DEMYELINATION","geneSymbols":["ABCD1","ACOX1","ADAT3","ALDH3A2","ASPA","ATXN2","CSF1R","CYP27A1","EIF2B1","ERCC1","ERCC6","ERCC8","GALC","GFAP","GLS","HLA-DQB1","HLA-DRB1","HTRA1","INSR","L2HGDH","LRPPRC","MAT1A","MMACHC","MTTP","NDUFAF4","PDCD1","PDYN","PEX19","PIGG","PPFIBP1","PPP1R15B","PRF1","PRPS1","PSAP","PYCR2","RERE","SUMF1","TNR","TREM2","TREX1","TRMT10A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_EXTRAPYRAMIDAL_DYSKINESIA":{"collection":"C5:HPO","systematicName":"M37033","pmid":"","exactSource":"HP:0007308","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007308","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EXTRAPYRAMIDAL_DYSKINESIA","geneSymbols":["ACAT1","C9orf72","DPYS","SLC2A1","TSEN2","TSEN54"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SHORT_STEPPED_SHUFFLING_GAIT":{"collection":"C5:HPO","systematicName":"M37034","pmid":"","exactSource":"HP:0007311","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007311","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_STEPPED_SHUFFLING_GAIT","geneSymbols":["ADH1C","ATXN2","ATXN8OS","COL2A1","DCTN1","DNAJC6","GBA1","GLUD2","MAPT","MT-TT","NR4A2","PODXL","PRKAR1B","SNCAIP","SYNJ1","TBP","TRPV4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_GENERALIZED_DYSTONIA":{"collection":"C5:HPO","systematicName":"M37035","pmid":"","exactSource":"HP:0007325","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007325","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENERALIZED_DYSTONIA","geneSymbols":["ACTB","ALS2","AOPEP","ATP5F1A","C19orf12","DLAT","FA2H","GCH1","HPCA","IMPDH2","JAM2","KMT2B","LRPPRC","MRPS25","NAXD","NDUFA2","NDUFAF6","NR4A2","PANK2","PLP1","PRKRA","SLC39A14","SUOX","TH","THAP1","TIMM8A","TNR","TOR1A","TSPOAP1","TUBB4A","UFC1","VPS41"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MIXED_DEMYELINATING_AND_AXONAL_POLYNEUROPATHY":{"collection":"C5:HPO","systematicName":"M37036","pmid":"","exactSource":"HP:0007327","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007327","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MIXED_DEMYELINATING_AND_AXONAL_POLYNEUROPATHY","geneSymbols":["ATP7B","MORC2","MT-CO1","MT-CO2","MT-CO3","MT-ND1","MT-ND4","MT-ND5","MT-ND6","MT-TF","MT-TH","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TW","NEFL"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_IMPAIRED_PAIN_SENSATION":{"collection":"C5:HPO","systematicName":"M37037","pmid":"","exactSource":"HP:0007328","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007328","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRED_PAIN_SENSATION","geneSymbols":["ABCA1","AIFM1","ATL1","ATL3","ATXN1","CACNA2D1","CCT5","CDKL5","CHAMP1","CLTCL1","DDHD1","DEAF1","DNM1L","EBF3","ELP1","FBN1","FLII","GABBR2","GDAP1","GJB1","GNB4","GRIA3","H19","HARS1","HDAC4","HERC2","HK1","HNRNPK","HSPB1","IARS2","IGF2","IL6ST","IQSEC2","JAG1","KCNQ1OT1","KDM5C","LIFR","LMX1B","MADD","MAGEL2","MCM3AP","MECP2","MFN2","MKRN3","MPV17","MPZ","NEFL","NGF","NGLY1","NPAP1","NTNG1","NTRK1","PDK3","PDXK","PMP2","PMP22","PNPT1","PRDM12","PRPS1","PWAR1","PWRN1","RAI1","RFX7","SCN11A","SCN9A","SCYL1","SH3TC2","SHANK3","SMC1A","SNORD115-1","SNORD116-1","SORD","SPTLC1","SPTLC2","TDP1","TMEM218","TRIO","TRPM3","UBTF","VCP","ZEB2","ZFHX2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPOPLASIA_OF_THE_FRONTAL_LOBES":{"collection":"C5:HPO","systematicName":"M37038","pmid":"","exactSource":"HP:0007333","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007333","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASIA_OF_THE_FRONTAL_LOBES","geneSymbols":["ANKLE2","ARHGEF9","ASPM","BRAF","CDK5RAP2","CDK6","CENPE","CENPJ","CEP135","CEP152","CEP63","CIT","COPB2","DHCR7","DPM1","FDXR","FIG4","KIF14","KNL1","MBD5","MCM7","MCPH1","METTL5","MFSD2A","NCAPD3","NUP37","PHC1","PYCR2","RNU4ATAC","RTTN","SARS1","SASS6","SLC35C1","STIL","TAF13","TRAPPC10","TRAPPC14","VAC14","WARS1","WDR62"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BILATERAL_TONIC_CLONIC_SEIZURE_WITH_FOCAL_ONSET":{"collection":"C5:HPO","systematicName":"M37039","pmid":"","exactSource":"HP:0007334","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007334","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BILATERAL_TONIC_CLONIC_SEIZURE_WITH_FOCAL_ONSET","geneSymbols":["ADAM22","ATP1A2","CEP85L","CNTNAP2","DEPDC5","EPM2A","FIG4","GABRG2","GAL","GRIN2A","IER3IP1","KCNB1","KCNJ11","KCNMA1","KCNQ2","KCNQ3","KCNT1","KCTD7","KDM6A","KMT2D","LGI1","MAST3","MICAL1","MTFMT","NHLRC1","PACS2","PDSS2","PIGA","PLCB1","POLG","PPFIBP1","PPP2CA","PRRT2","PSAP","PUS3","RELN","SCN1A","SCN2A","SCN8A","SLC12A5","SLC22A5","SLC25A22","SLC38A3","SRPX2","STXBP1","SZT2","TBC1D24","TRIM8"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPERMETRIC_SACCADES":{"collection":"C5:HPO","systematicName":"M37040","pmid":"","exactSource":"HP:0007338","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007338","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERMETRIC_SACCADES","geneSymbols":["ANO10","ATXN1","GDAP2","GRM1","KCNN2","PRDX3","TMEM240","TPP1","VPS13D","VPS41","XRCC1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LOWER_LIMB_MUSCLE_WEAKNESS":{"collection":"C5:HPO","systematicName":"M37041","pmid":"","exactSource":"HP:0007340","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007340","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOWER_LIMB_MUSCLE_WEAKNESS","geneSymbols":["AARS1","ABCD1","ADAR","ADSS1","AFG3L2","AGRN","AIFM1","AKT1","ANO5","AP5Z1","ASAH1","ATL1","ATP5MC3","B4GALNT1","BAG3","BAP1","BICD2","BSCL2","CACNA1S","CAPN1","CAPN3","CAV1","CCND1","CHAT","CHCHD10","CHRNA1","COL13A1","COL25A1","CPT1C","CRPPA","CRYAB","CYP27A1","CYP7B1","DCTN1","DDHD1","DDHD2","DES","DGUOK","DHTKD1","DNM2","DSTYK","DYSF","EGR2","EIF2B2","EIF2B3","EMILIN1","ERGIC1","ERLIN2","EXTL3","FARS2","FBLN5","FBXO38","FDX2","FGD4","FHL1","FKTN","FLI1","FLNC","GABRA3","GALC","GARS1","GBA2","GDAP1","GIPC1","GJB1","GMPPB","GNB1","GNB4","GNE","GYG1","HADHA","HADHB","HARS1","HINT1","HK1","HSPB1","HSPB3","HSPB8","HSPD1","HYCC1","IBA57","IGHMBP2","JAG2","KCNJ10","KCNJ18","KIF1A","KIF5A","KPNA3","L1CAM","LIPE","LMNA","LPIN1","LRP12","MAPT","MATR3","MFN2","MME","MORC2","MPZ","MRPS2","MT-ATP6","MT-CO1","MT-CO3","MTHFR","MTMR14","MTRFR","MTTP","MYH14","MYH7","MYO9A","MYPN","NDRG1","NEFH","NEFL","NF1","NF2","NIPA1","NOTCH2NLC","NUP54","NUP62","OBSCN","PDGFB","PDK3","PDXK","PHKA1","PI4KA","PIEZO2","PIK3CA","PLEC","PLP1","PMP2","PMP22","PNKP","PNPLA6","PRNP","PRORP","PRX","RAB7A","RASA1","REEP1","RILPL1","RNASEH1","RNF170","RTN2","SARDH","SBF1","SBF2","SCO2","SCYL1","SCYL2","SECISBP2","SIGMAR1","SLC12A6","SLC18A3","SLC25A1","SLC33A1","SLC5A6","SLC5A7","SMARCB1","SMARCE1","SMN1","SMN2","SMO","SMPX","SNAP25","SORD","SPART","SPAST","SPG11","SPG21","SPG7","SPTLC1","SPTLC2","SUFU","SYNE1","SYT2","TCAP","TDP1","TERT","TFG","TNNT1","TPM2","TPM3","TRAF7","TRPV4","TTN","UBAP1","VAMP1","VAPB","VCP","VHL","VPS13D","VWA1","WARS1","WASHC5","ZFYVE26","ZFYVE27"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_MORPHOLOGY_OF_THE_LIMBIC_SYSTEM":{"collection":"C5:HPO","systematicName":"M37042","pmid":"","exactSource":"HP:0007343","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007343","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MORPHOLOGY_OF_THE_LIMBIC_SYSTEM","geneSymbols":["ABCA7","ATP1A3","BICRA","CAMTA1","CARS2","CEP85L","CLCN3","CNPY3","CNTN2","CPA6","CPLX1","DCC","DNAL4","DPYSL5","EML1","FGFR2","GABRA1","GABRG2","GRIN1","GRM7","KDM4B","MACF1","MTHFD1","NDE1","NEK1","NR2F1","NTN1","OSTM1","PCDH19","POU4F1","RAD51","RNU4ATAC","SCN1A","SCN1B","SCN2A","SCN9A","SLC35A2","SLITRK2","STAMBP","TBC1D24","TCF4","TUBA1A","TUBB3","VAX1","VPS13A","VPS51","ZEB2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ATROPHY_DEGENERATION_INVOLVING_THE_SPINAL_CORD":{"collection":"C5:HPO","systematicName":"M37043","pmid":"","exactSource":"HP:0007344","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007344","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ATROPHY_DEGENERATION_INVOLVING_THE_SPINAL_CORD","geneSymbols":["ABCD1","ALDH18A1","CCT5","CYP7B1","DNAJC3","FA2H","FXN","GFAP","LMNB1","LYST","MMACHC","MORC2","MTHFR","NEFL","PI4KA","PNPLA6","POLG","SETX","SPG11","SPG7","TWNK"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SUBCORTICAL_WHITE_MATTER_CALCIFICATIONS":{"collection":"C5:HPO","systematicName":"M47120","pmid":"","exactSource":"HP:0007346","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007346","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUBCORTICAL_WHITE_MATTER_CALCIFICATIONS","geneSymbols":["ERCC1","ERCC6","ERCC8","KARS1","SNORD118"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPERREFLEXIA_IN_UPPER_LIMBS":{"collection":"C5:HPO","systematicName":"M37044","pmid":"","exactSource":"HP:0007350","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007350","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERREFLEXIA_IN_UPPER_LIMBS","geneSymbols":["ABCC9","ALDH18A1","ANO10","ATP13A2","CAPN1","CYP2U1","ERLIN2","FAR1","FTL","HSPD1","KIF5A","KPNA3","REEP1","RTN2","SDHA","SDHAF1","SDHB","SDHD","SPAST","SPG11","SPTLC2","TMEM63C","TNR","UBAP1","VPS37A","WASHC5"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_UPPER_LIMB_POSTURAL_TREMOR":{"collection":"C5:HPO","systematicName":"M37045","pmid":"","exactSource":"HP:0007351","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007351","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UPPER_LIMB_POSTURAL_TREMOR","geneSymbols":["ANO3","CACNA1G","CARS2","COL6A3","ITPR1","LMNB1","MPZ","PLA2G6","PMP22","TUBB4A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CEREBELLAR_CALCIFICATIONS":{"collection":"C5:HPO","systematicName":"M37046","pmid":"","exactSource":"HP:0007352","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007352","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CEREBELLAR_CALCIFICATIONS","geneSymbols":["ERCC6","ERCC8","JAM2","PDGFB","PDGFRB","SLC20A2","SNORD118","TREX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_AMYOTROPHIC_LATERAL_SCLEROSIS":{"collection":"C5:HPO","systematicName":"M37047","pmid":"","exactSource":"HP:0007354","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007354","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AMYOTROPHIC_LATERAL_SCLEROSIS","geneSymbols":["ALS2","ANG","ANXA11","ATXN2","C9orf72","CCNF","CFAP410","CHCHD10","CHMP2B","CYLD","DAO","DCTN1","EPHA4","ERBB4","FIG4","FUS","GLE1","GLT8D1","HNRNPA1","HNRNPA2B1","KIF5A","MAPT","MATR3","NEFH","NEK1","OPTN","PFN1","PON1","PON2","PON3","PPARGC1A","PRPH","PSEN1","SETX","SIGMAR1","SOD1","SPG11","SPTLC1","SQSTM1","TAF15","TARDBP","TBK1","TIA1","TREM2","TRPM7","TUBA4A","UBQLN2","UNC13A","VAPB","VCP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FOCAL_ONSET_SEIZURE":{"collection":"C5:HPO","systematicName":"M37048","pmid":"","exactSource":"HP:0007359","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007359","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOCAL_ONSET_SEIZURE","geneSymbols":["ACO2","ACSF3","ADAM22","ADGRG1","ADGRV1","ADPRS","ADRA2B","AFF3","AGO1","AKT1","AKT3","ALDH7A1","AMACR","AP2M1","AP3D1","AP4S1","APC2","ARF1","ARFGEF2","ARHGEF9","ARV1","ARX","ATP1A2","ATP1A3","ATP5PO","ATP6V0A1","ATP6V1A","ATP6V1B2","ATXN10","BAP1","BRAT1","BTD","CABP4","CACNA1A","CACNA1C","CACNA1D","CACNA2D1","CAMK2B","CAMTA1","CARS2","CASK","CDC40","CDH2","CDKL5","CEP85L","CHD2","CHRNA2","CHRNA4","CHRNB2","CIC","CLCN3","CLCN4","CLCNKB","CLN3","CLN5","CLN6","CLN8","CNOT1","CNPY3","CNTN2","CNTNAP2","COL4A1","COL4A2","COPB1","COX11","CPA6","CPLX1","CRH","CRIPT","CSF1R","CTNND2","CTSF","CUX2","CYP26C1","DCX","DEPDC5","DMXL2","DNM1","DNM1L","DOCK7","DOLK","DPAGT1","DPYD","DPYSL5","DYNC1H1","EN1","EPM2A","ERMARD","EXOC7","EXTL3","FA2H","FAR1","FBP2","FBXO28","FGF12","FGF13","FGFR3","FIG4","FLNA","FMN2","FRRS1L","FZR1","GABBR2","GABRA1","GABRA3","GABRA5","GABRB3","GABRD","GABRG2","GAL","GALNT2","GAMT","GJC2","GLI3","GLYCTK","GNAI1","GNAO1","GNB1","GNB2","GOLGA2","GOSR2","GRIA2","GRIA3","GRIK2","GRIN1","GRIN2A","GRIN2B","GRM7","H4C5","HACE1","HCN1","HHAT","HID1","HTT","IER3IP1","IFNG","ITPR1","KANSL1","KCNA1","KCNB1","KCNC2","KCNJ11","KCNK4","KCNMA1","KCNQ2","KCNQ3","KCNQ5","KCNT1","KCTD7","KDM6A","KDM6B","KMT2D","LAMA2","LAMC3","LGI1","LGI4","LRP5","MACF1","MAP1B","MAPK10","MARCHF6","MAST3","MBOAT7","MDH2","METTL23","MICAL1","MT-CO1","MT-CO2","MT-CO3","MT-ND1","MT-ND4","MT-ND5","MT-ND6","MT-TF","MT-TH","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TW","MTFMT","MTHFR","MTHFS","MTOR","MYT1L","NACC1","NARS1","NBEA","NCDN","NDUFA2","NDUFAF6","NECAP1","NEDD4L","NEUROD2","NEXMIF","NF1","NF2","NFU1","NGLY1","NHLRC1","NPRL2","NPRL3","NR4A2","NSD1","NUS1","OPHN1","PACS1","PACS2","PAFAH1B1","PCDH12","PCDH19","PCYT2","PDE2A","PDGFB","PDSS2","PEX3","PHGDH","PI4KA","PIGA","PIGP","PIGQ","PIGS","PIGW","PIK3CA","PLCB1","PLPBP","PNKP","PNPLA8","POGZ","POLG","POLR3A","POLRMT","POU4F1","PPFIBP1","PPIL1","PPP2CA","PPP2R5D","PPP3CA","PRMT7","PRRT2","PSAP","PTPN23","PURA","PUS3","PYCR2","RARS1","RELN","RNU12","ROGDI","RPL10","SAMD12","SATB1","SCN1A","SCN1B","SCN2A","SCN3A","SCN8A","SCN9A","SDHA","SDHAF1","SDHB","SDHD","SEC31A","SETD2","SIK1","SLC12A3","SLC12A5","SLC13A5","SLC1A2","SLC1A3","SLC22A5","SLC25A10","SLC25A22","SLC2A1","SLC31A1","SLC32A1","SLC35A3","SLC38A3","SLC6A1","SMARCAL1","SMARCB1","SMARCE1","SMC1A","SMO","SMS","SNORD118","SPATA5L1","SPTBN1","SRPX2","ST3GAL3","STRADA","STX1B","STXBP1","SUFU","SUPT16H","SYN1","SYNGAP1","SZT2","TANGO2","TBC1D24","TBCK","TBK1","TERT","TFE3","TGFB1","TICAM1","TLR3","TMEM231","TMEM94","TMTC3","TRAF3","TRAF7","TREX1","TRIM8","TSC1","TSC2","TUBA1A","TUBB2B","TUBB3","UFSP2","UNC93B1","VAMP2","VARS1","VARS2","VPS11","VPS35L","WARS2","WDR45B","YEATS2","YWHAG","ZEB2","ZNFX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APLASIA_HYPOPLASIA_OF_THE_CEREBELLUM":{"collection":"C5:HPO","systematicName":"M37049","pmid":"","exactSource":"HP:0007360","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007360","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_CEREBELLUM","geneSymbols":["ABAT","ACD","ACY1","ADGRG1","ADGRV1","AFF3","AFG3L2","AGTPBP1","AHCY","AHI1","AIPL1","ALG12","ALG3","ALG6","ALX4","AMPD2","AP1S2","APC2","ARHGEF2","ARID1A","ARID1B","ARID2","ARL13B","ARL3","ARMC9","ARNT2","ARSI","ASNS","ASPM","ASXL1","ASXL3","ATAD3A","ATCAY","ATG5","ATG7","ATN1","ATP2B3","ATP5F1A","ATP6V0A1","ATP6V0A2","ATP6V1A","ATP6V1B2","ATP6V1E1","ATP9A","ATR","ATXN2","B3GALNT2","B4GALT1","B4GAT1","B9D1","B9D2","BCOR","BICD2","BLTP1","BMP4","BRD4","BRF1","BUB1","BUB1B","BUB3","C2CD3","CACNA1G","CAMSAP1","CAMTA1","CARS2","CASK","CBY1","CC2D2A","CCDC22","CCDC32","CCDC47","CDC40","CDC42","CDC42BPB","CDH23","CDK5","CDKN1C","CENPE","CENPF","CEP104","CEP120","CEP164","CEP290","CEP41","CEP55","CEP57","CEP85L","CHD7","CHMP1A","CIB2","CILK1","CIT","CLCN3","COASY","COG1","COL3A1","COL4A1","COQ4","CPLANE1","CPLX1","CPSF3","CPT2","CRB1","CRPPA","CRX","CSF1R","CSPP1","CTBP1","CTNNA2","CWF19L1","DAG1","DCHS1","DDX3X","DENND5A","DHCR7","DHFR","DHX37","DISC1","DKC1","DMXL2","DOCK6","DOK7","DPAGT1","DPF2","DPH1","DPH2","DPH5","DPM2","DPYSL5","DYNC1H1","DYNC2H1","DYNC2I1","DYNC2I2","EBF3","EBP","EHMT1","ELN","EN1","EOMES","EPG5","ERCC1","ERCC2","ERCC5","ERCC6","ERF","ERMARD","ESCO2","ESPN","EVC","EVC2","EXOC2","EXOC7","EXOSC1","EXOSC2","EXOSC3","EXOSC8","EXOSC9","EZH2","FAM149B1","FANCB","FANCL","FAR1","FAT4","FDXR","FGFR1","FGFR2","FGFR3","FIG4","FKRP","FKTN","FLNA","FLVCR2","FOXC1","FRMD4A","FTO","GDF6","GEMIN4","GFM2","GJA1","GJB2","GJB6","GLI3","GMPPB","GOT2","GPAA1","GPC3","GPC4","GPHN","GPKOW","GPSM2","GPX4","GRIA3","GRM1","GTPBP2","GUCY2D","H3-3A","HDAC6","HDAC8","HERC1","HESX1","HHAT","HNRNPH1","HNRNPH2","HNRNPR","HRAS","HYLS1","IER3IP1","IFT140","IFT172","IFT74","IFT80","IGF2","IMPDH1","INPP5E","INPP5K","INTS1","INTS8","IQCB1","ITPR1","JAM3","KARS1","KATNIP","KCNJ13","KCNQ1","KCNQ1OT1","KIAA0586","KIAA0753","KIDINS220","KIF14","KIF21A","KIF5A","KIF7","KMT2C","KNL1","KPNA3","KRAS","L1CAM","L2HGDH","LAMA1","LAMB1","LARGE1","LCA5","LETM1","LMNB1","LNPK","LRAT","LRPPRC","LRRC32","MAB21L1","MACF1","MAN1B1","MAN2C1","MAP2K2","MAPK8IP3","MAPKAPK5","MARS2","MAST1","MBD5","MBTPS2","MDH1","MED11","MEF2C","MFSD2A","MGAT2","MICOS13","MID1","MINPP1","MKS1","MLXIPL","MPL","MRE11","MSTO1","MT-TE","MT-TK","MT-TL1","MTHFR","MTM1","MUSK","MVK","MYMK","MYMX","MYO5A","MYO7A","MYOD1","NAGA","NCAPG2","NDE1","NDP","NDUFA6","NEK1","NELFA","NFIX","NIPBL","NMNAT1","NODAL","NONO","NPHP1","NPHP3","NRAS","NSD1","NSD2","NSRP1","NUP37","NUP88","OCLN","OFD1","OPHN1","OTUD5","OTX2","OXR1","PACS1","PACS2","PAFAH1B1","PARN","PCDH15","PCGF2","PCLO","PCYT1A","PDE6D","PDHB","PDZD7","PEX2","PGAP1","PGAP2","PHGDH","PI4KA","PIBF1","PIEZO2","PIGA","PIGG","PIGN","PIGT","PIGU","PIK3CA","PLCH1","PLG","PLK4","PLP1","PMM2","PMPCA","POLR3A","POMGNT1","POMGNT2","POMK","POMT1","POMT2","POU4F1","PPFIBP1","PPIL1","PPP1CB","PPP1R15B","PPP1R21","PPP2R1A","PRDM13","PRKDC","PROKR2","PRRX1","PSAT1","PTEN","PTF1A","PTRH2","RAB11B","RAB18","RAB3GAP1","RAB3GAP2","RAC1","RAD21","RAPSN","RARS2","RBBP8","RBM10","RBM8A","RD3","RDH12","RELN","RERE","RFX7","RHOBTB2","RNF113A","RNU12","RNU4ATAC","ROBO1","ROBO3","ROGDI","RORA","RPE65","RPGRIP1","RPGRIP1L","RPL10","RPS6KA3","RTEL1","RTTN","RXYLT1","SACS","SAMD9L","SASS6","SEMA3E","SEMA6B","SEPSECS","SETD2","SHQ1","SIL1","SIX3","SLC18A3","SLC1A3","SLC25A1","SLC25A19","SLC25A24","SLC25A46","SLC35A2","SLC9A6","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SMC1A","SMC3","SMG9","SMPD4","SNX14","SON","SOX11","SOX2","SOX3","SOX4","SPATA7","SPTBN2","SRD5A3","SRPX2","STAG2","STAT2","STUB1","SUFU","SUOX","SYT2","TAF1","TAPT1","TBC1D20","TBC1D23","TBC1D24","TBCK","TCTN1","TCTN2","TCTN3","TERC","TERT","TFAP2A","THG1L","THOC2","TINF2","TKFC","TMCO1","TMEM107","TMEM138","TMEM216","TMEM218","TMEM231","TMEM237","TMEM67","TMTC3","TNPO2","TOE1","TOGARAM1","TOPORS","TP53RK","TRAPPC12","TRAPPC9","TRIP13","TRMT10A","TRRAP","TSEN15","TSEN2","TSEN34","TSEN54","TUBA1A","TUBB","TUBB2A","TUBB2B","TUBB3","TUBB4B","TUBGCP4","TUBGCP6","TULP1","TWIST1","TXNDC15","UBE3C","UFC1","UFSP2","USH1C","USH1G","USH2A","USP18","USP45","USP9X","VAC14","VANGL2","VARS2","VLDLR","VPS13B","VPS35L","VPS4A","VPS51","VRK1","WAC","WARS2","WASHC5","WDR26","WDR35","WDR73","WDR81","WHRN","WLS","WNT1","YME1L1","ZBTB11","ZEB2","ZIC1","ZIC3","ZNF292","ZNF335","ZNF423","ZNF592"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_PONS_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M37050","pmid":"","exactSource":"HP:0007361","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007361","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PONS_MORPHOLOGY","geneSymbols":["ADGRG1","AGTPBP1","AHCY","AHI1","ALG3","AMPD2","APC2","ARHGEF2","ARL3","ASNS","ATXN2","ATXN8OS","B3GALNT2","BRF1","CASK","CCDC88C","CDON","CEP290","CLCN3","CLTC","CSPP1","DAG1","DCC","DISP1","DLL1","DOCK7","DPM1","EPG5","EXOSC1","EXOSC3","EXOSC8","EXOSC9","FA2H","FGF8","FKRP","FLI1","FOXH1","GALC","GAS1","GLI2","GMPPB","GPHN","IDH1","INPP5E","KIAA0586","LAMA1","LAMA2","LARGE1","MAB21L1","MACF1","MARS2","MDH1","MED23","MINPP1","NODAL","NPHP1","PCLO","PI4KA","PIGA","PIGS","PLK4","PMM2","POGZ","POMGNT1","POMK","POMT1","POMT2","PPIL1","PPP2R1A","PRDM13","PTCH1","PTEN","RELN","RERE","ROBO1","ROBO3","RORA","RTTN","SACS","SEPSECS","SETD2","SETX","SHH","SIX3","SLC25A46","SLC5A6","SMARCA2","SNX14","STIL","STUB1","TBC1D23","TDGF1","TGIF1","TMEM216","TMEM67","TOE1","TRAPPC12","TSEN15","TSEN2","TSEN34","TSEN54","TUBA1A","TUBB2B","TUBB3","UBE2A","VPS4A","VPS51","VRK1","WNT1","ZIC1","ZIC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ATROPHY_DEGENERATION_AFFECTING_THE_BRAINSTEM":{"collection":"C5:HPO","systematicName":"M37052","pmid":"","exactSource":"HP:0007366","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007366","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ATROPHY_DEGENERATION_AFFECTING_THE_BRAINSTEM","geneSymbols":["ATP1A3","ATP6V0A1","ATXN1","CACNA1G","CERS1","COG5","COG8","DEGS1","DNAJC19","DNAJC3","DNM1L","DNMT1","ECHS1","ELOVL5","FA2H","FARS2","GET4","GFM2","GNAO1","KIF1A","LMNB1","LYRM7","OPA1","PCLO","PMPCB","PNKP","PRDX3","RARS2","RNASEH1","SLC35A2","SPTAN1","SYNE1","TBCD","TBP","TRAPPC6B","TRRAP","TWNK","ZNHIT3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ATROPHY_DEGENERATION_AFFECTING_THE_CENTRAL_NERVOUS_SYSTEM":{"collection":"C5:HPO","systematicName":"M37053","pmid":"","exactSource":"HP:0007367","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007367","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ATROPHY_DEGENERATION_AFFECTING_THE_CENTRAL_NERVOUS_SYSTEM","geneSymbols":["AARS1","AARS2","ABCA7","ABCD1","ABCD4","ABHD5","ACD","ACER3","ACO2","ACTB","ACTG1","ACTL6B","ACY1","ADAM22","ADAR","ADARB1","ADAT3","ADGRV1","ADH1C","ADK","ADNP","ADPRS","ADSL","AFF3","AGA","AGTPBP1","AIFM1","AIMP1","AIMP2","ALDH18A1","ALDH7A1","ALG1","ALG11","ALG13","ALG14","ALG3","ALG8","ALG9","ALS2","AMPD2","ANG","ANXA11","AP1B1","AP1S2","AP3B2","AP3D1","AP4B1","AP4E1","AP4M1","AP4S1","APC2","APOE","APP","ARV1","ARX","ASAH1","ASNS","ASPA","ATAD1","ATG7","ATL1","ATN1","ATP11A","ATP13A2","ATP1A2","ATP1A3","ATP5F1A","ATP5F1D","ATP5F1E","ATP5MK","ATP5PO","ATP6AP2","ATP6V0A1","ATP6V1A","ATP8A2","ATPAF1","ATPAF2","ATRX","ATXN1","ATXN2","ATXN3","ATXN7","ATXN8OS","AUH","B3GLCT","B4GALNT1","BAZ1B","BCAP31","BCAS3","BCL7B","BCS1L","BICD2","BICRA","BMP4","BRAF","BRAT1","BRD4","BSCL2","BTD","BUB1","BUD23","C19orf12","C9orf72","CACNA1A","CACNA1B","CACNA1E","CACNA1G","CACNA1I","CACNA2D1","CAD","CAMTA1","CARS1","CARS2","CASK","CASZ1","CCDC47","CCNF","CCT5","CDC42","CDH23","CDK19","CDKL5","CELF2","CEP126","CERS1","CFAP410","CHAMP1","CHCHD10","CHMP2B","CIB2","CISD2","CIZ1","CLCN4","CLIP2","CLN3","CLN5","CLN6","CLN8","CLP1","CLPB","CLTC","CNKSR2","CNPY3","CNTNAP1","COASY","COG1","COG2","COG4","COG5","COG6","COG7","COG8","COL18A1","COLGALT1","COPB1","COQ2","COQ9","COX11","COX16","COX4I1","COX8A","CPA6","CPLANE1","CPLX1","CPSF3","CPT1C","CRLS1","CSF1R","CTDP1","CTNS","CTSD","CTSF","CWC27","CYB5A","CYB5R3","CYFIP2","CYLD","CYP27A1","CYP7B1","DALRD3","DAO","DARS2","DCDC2","DCTN1","DDB2","DDX3X","DEGS1","DGUOK","DHCR7","DHDDS","DHFR","DHX30","DKC1","DLAT","DMPK","DMXL2","DNAJB4","DNAJC13","DNAJC19","DNAJC3","DNAJC30","DNAJC5","DNAJC6","DNM1","DNM1L","DNMT1","DOCK6","DOCK7","DOHH","DPAGT1","DPH5","DPM1","DPYD","DSE","DTYMK","DYNC1I2","DYRK1A","ECHS1","EEF1A2","EHMT1","EIF2AK2","EIF2B4","EIF4G1","EIF4H","ELN","ELOVL4","ELOVL5","EMC1","EMX2","EPG5","EPHA4","EPM2A","EPRS1","ERBB4","ERCC1","ERCC2","ERCC3","ERCC4","ERCC5","ERCC6","ERCC8","ESPN","EXOC7","EXOC8","EXOSC1","EXOSC2","EXOSC3","EXOSC5","EXOSC8","EXOSC9","FA2H","FADD","FAR1","FARS2","FARSB","FASTKD2","FBLN1","FBXL4","FBXO28","FDXR","FGF12","FGF13","FGFR1","FGFR3","FH","FIG4","FKBP6","FKRP","FLI1","FMR1","FOLR1","FOXP2","FRMPD4","FRRS1L","FTL","FTO","FUCA1","FUS","FXN","FZR1","GABBR2","GABRA1","GABRA2","GABRA5","GABRB2","GABRD","GABRG2","GAD1","GALC","GBA1","GBA2","GCDH","GDAP2","GEMIN4","GET4","GFAP","GFM1","GFM2","GIGYF2","GJC2","GLB1","GLE1","GLT8D1","GLUD2","GLUL","GLYCTK","GM2A","GMPPB","GNAO1","GNAQ","GNB1","GNPTAB","GOLGA2","GON7","GOT2","GPKOW","GRIA2","GRIA3","GRIA4","GRID2","GRIN1","GRIN2A","GRIN2D","GRM7","GRN","GTF2E2","GTF2H5","GTF2I","GTF2IRD1","GTF2IRD2","GUF1","GUSB","H3-3A","HACE1","HCN1","HDAC4","HDAC8","HECW2","HEPACAM","HERC1","HEXB","HIC1","HID1","HIVEP2","HNF1B","HNRNPA1","HNRNPA2B1","HRAS","HSD17B10","HSD17B4","HSPG2","HTRA1","HTRA2","HTT","HUWE1","IARS2","IBA57","IDS","IDUA","IFIH1","IGHMBP2","IKBKG","IRF2BPL","ITPA","JPH3","KANK1","KARS1","KCNA1","KCNA2","KCNAB2","KCNB1","KCNMA1","KCNQ2","KCNQ5","KCNT1","KCTD7","KDM6A","KIDINS220","KIF1A","KIF1C","KIF26A","KIF5A","KIF7","KMT2D","KPNA3","KRAS","KY","L2HGDH","LAGE3","LARGE1","LHX1","LIAS","LIMK1","LIPT2","LMNB1","LONP1","LRP12","LRRK2","LSM11","LUZP1","LYRM7","LYST","MAF","MAG","MAGEL2","MAN2B1","MAP2K1","MAP2K2","MAPK8IP3","MAPT","MARS2","MATR3","MBTPS2","MDH2","MECP2","MECR","MED11","MED17","MED25","MED27","MEF2C","METTL27","MFSD8","MGAT2","MINPP1","MLXIPL","MMACHC","MMADHC","MMP23B","MOCS1","MOCS2","MOGS","MORC2","MPDU1","MPLKIP","MRM2","MT-ATP6","MT-ATP8","MT-CO1","MT-CO2","MT-CO3","MT-ND1","MT-ND4","MT-ND5","MT-ND6","MT-TF","MT-TH","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TT","MT-TW","MTHFR","MTR","MTRR","MUC1","MVK","MYO5A","MYO7A","MYORG","MYT1L","NAA10","NACC1","NADK2","NAE1","NAGA","NALCN","NANS","NARS1","NARS2","NAXD","NAXE","NBN","NCF1","NDE1","NDN","NDP","NDUFA11","NDUFA2","NDUFA8","NDUFA9","NDUFAF5","NDUFB8","NDUFS1","NDUFS2","NDUFV1","NDUFV2","NECAP1","NEFH","NEFL","NEK1","NEUROD2","NEXMIF","NFIX","NGLY1","NHLRC1","NHLRC2","NIPA1","NIPBL","NKX6-2","NMNAT1","NODAL","NOTCH3","NOVA2","NPC1","NR4A2","NRROS","NSD1","NTNG2","NTRK2","NUP133","NUP214","NUP54","NUP62","NUS1","NUTM2B-AS1","OCA2","OCLN","OFD1","OGDHL","OPA1","OPHN1","OPTN","OSGEP","OSTM1","OTUD5","OTUD6B","PACS2","PAFAH1B1","PANK2","PARN","PARS2","PCCA","PCCB","PCDH15","PCDH19","PCDHGC4","PCK1","PCLO","PCNA","PCYT2","PDE10A","PDE6D","PDE8B","PDHA1","PDHX","PDPN","PDYN","PDZD7","PEX1","PEX16","PEX19","PEX7","PFN1","PGAP1","PGAP2","PHACTR1","PHGDH","PI4KA","PIGA","PIGG","PIGL","PIGN","PIGP","PIGQ","PIGS","PIGT","PIGU","PIGV","PITRM1","PLA2G6","PLAA","PLCB1","PLK4","PLP1","PLPBP","PMPCA","PMPCB","PNKP","PNPLA6","PNPO","PODXL","POGZ","POLA1","POLG","POLG2","POLR3A","POLR3B","POLR3K","POMT1","POMT2","PON1","PON2","PON3","POU4F1","PPARGC1A","PPFIBP1","PPP2R2B","PPP3CA","PPT1","PQBP1","PRDM16","PRDX1","PRDX3","PRKAR1B","PRKCZ","PRKDC","PRKN","PRNP","PRPH","PRUNE1","PSAP","PSEN1","PSEN2","PSPH","PTCD3","PTDSS1","PUF60","PURA","PUS3","PUS7","PYCR2","QARS1","RAB18","RAB23","RAB3GAP1","RAB3GAP2","RAD21","RALGAPA1","RARS1","RARS2","RBL2","RBM28","REPS1","RERE","RFC2","RFT1","RHOBTB2","RMND1","RNASEH1","RNASEH2A","RNASEH2B","RNASEH2C","RNF113A","RNF125","RNF216","RNU12","RNU4ATAC","RNU7-1","ROGDI","RPS6KA3","RTEL1","RTN2","RTTN","RUSC2","SACS","SAMHD1","SATB1","SBF1","SC5D","SCN1A","SCN1B","SCN2A","SCN3A","SCN8A","SCN9A","SCO1","SCO2","SCYL2","SEPSECS","SERAC1","SERPINI1","SETBP1","SETD2","SETX","SHH","SHPK","SHQ1","SIGMAR1","SIK1","SIX3","SKI","SLC12A5","SLC13A5","SLC16A2","SLC17A5","SLC1A2","SLC1A4","SLC25A15","SLC25A22","SLC25A46","SLC2A1","SLC2A3","SLC31A1","SLC32A1","SLC33A1","SLC35A2","SLC35B2","SLC35C1","SLC38A3","SLC39A14","SLC39A4","SLC39A8","SLC5A6","SLC9A6","SLITRK2","SMARCC2","SMC1A","SMC3","SMG8","SMG9","SMN1","SMN2","SNCA","SNCAIP","SNORD118","SNRPN","SNX14","SOD1","SON","SORL1","SOX10","SPAST","SPATA5","SPEN","SPG11","SPG21","SPG7","SPTAN1","SPTBN1","SPTLC1","SQSTM1","ST3GAL5","STAG1","STAMBP","STUB1","STX1A","STX1B","STXBP1","SUCLA2","SUCLG1","SUMF1","SUOX","SYNE1","SYNGAP1","SYNJ1","SYT2","SZT2","TAF15","TAF2","TANGO2","TARDBP","TARS1","TARS2","TBC1D20","TBC1D24","TBCD","TBCK","TBK1","TBL1XR1","TBL2","TBP","TCTN3","TDP1","TECPR2","TERT","TFG","TGFB1","TIA1","TIAM1","TIMM50","TIMM8A","TINF2","TK2","TMCO1","TMEM106B","TMEM147","TMEM270","TMEM67","TMEM70","TMX2","TOE1","TOMM40","TP53RK","TPI1","TPK1","TPP1","TPRKB","TRAF7","TRAK1","TRAPPC11","TRAPPC12","TRAPPC2L","TRAPPC4","TRAPPC6B","TRAPPC9","TREM2","TREX1","TRIM8","TRIT1","TRMT5","TRNT1","TRPM7","TRRAP","TSEN15","TSEN2","TSEN54","TTC19","TTC26","TTC5","TUBA4A","TUBGCP4","TUBGCP6","TWNK","TXN2","TYROBP","UBA1","UBA5","UBAP1","UBE3A","UBE4B","UBQLN2","UBTF","UCHL1","UFM1","UGP2","UNC13A","UNC80","UQCRC1","USH1C","USH1G","USH2A","USP9X","VAC14","VAPB","VARS1","VCP","VPS11","VPS13A","VPS13C","VPS16","VPS33A","VPS35","VPS37D","VPS41","VPS4A","VPS53","VRK1","WARS2","WASHC5","WDR45","WDR73","WDR81","WFS1","WHRN","WIPI2","WWOX","XPA","XPC","YIF1B","YME1L1","YRDC","YWHAE","YWHAG","ZBTB20","ZC4H2","ZMIZ1","ZNF335","ZNF592","ZNF668","ZNHIT3","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ATROPHY_DEGENERATION_AFFECTING_THE_CEREBRUM":{"collection":"C5:HPO","systematicName":"M43333","pmid":"","exactSource":"HP:0007369","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007369","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ATROPHY_DEGENERATION_AFFECTING_THE_CEREBRUM","geneSymbols":["AARS1","ABCA7","ABCD4","ACD","ACER3","ACO2","ACTB","ACTG1","ACTL6B","ACY1","ADAM22","ADAR","ADARB1","ADGRV1","ADK","ADNP","ADPRS","ADSL","AGA","AGTPBP1","AIFM1","AIMP1","AIMP2","ALDH18A1","ALG1","ALG11","ALG13","ALG14","ALG3","ALG8","ALG9","ALS2","AMPD2","AP1B1","AP1S2","AP3B2","AP3D1","AP4B1","AP4E1","AP4M1","AP4S1","APC2","APOE","APP","ARV1","ARX","ASNS","ATAD1","ATG7","ATN1","ATP11A","ATP13A2","ATP1A2","ATP1A3","ATP5F1A","ATP5F1D","ATP5F1E","ATP5MK","ATP6AP2","ATP6V1A","ATP8A2","ATPAF1","ATPAF2","ATRX","ATXN2","ATXN7","AUH","B3GLCT","B4GALNT1","BAZ1B","BCAP31","BCAS3","BCL7B","BCS1L","BICD2","BICRA","BMP4","BRAF","BRD4","BSCL2","BTD","BUB1","BUD23","C9orf72","CACNA1A","CACNA1B","CACNA1E","CACNA2D1","CAMTA1","CARS1","CARS2","CASK","CASZ1","CCDC47","CDC42","CDH23","CDK19","CDKL5","CELF2","CHCHD10","CHMP2B","CIB2","CISD2","CIZ1","CLCN4","CLIP2","CLN3","CLN5","CLN6","CLN8","CLP1","CLPB","CLTC","CNKSR2","CNTNAP1","COASY","COG1","COG2","COG4","COG5","COG6","COG7","COL18A1","COLGALT1","COQ2","COQ9","COX4I1","CPA6","CPLX1","CPSF3","CRLS1","CSF1R","CTDP1","CTNS","CTSD","CTSF","CWC27","CYB5A","CYB5R3","CYFIP2","CYP27A1","DALRD3","DARS2","DCDC2","DDB2","DDX3X","DGUOK","DHCR7","DHDDS","DHFR","DHX30","DKC1","DMPK","DMXL2","DNAJC13","DNAJC3","DNAJC30","DNM1","DNM1L","DNMT1","DOCK6","DOCK7","DPAGT1","DPM1","DPYD","DSE","DTYMK","DYNC1I2","DYRK1A","EEF1A2","EHMT1","EIF2AK2","EIF2B4","EIF4G1","EIF4H","ELN","ELOVL4","EMC1","EMX2","EPG5","EPRS1","ERCC1","ERCC2","ERCC3","ERCC4","ERCC5","ERCC6","ERCC8","ESPN","EXOC7","EXOSC1","EXOSC2","EXOSC3","EXOSC5","EXOSC8","EXOSC9","FA2H","FADD","FAR1","FARS2","FARSB","FASTKD2","FBLN1","FBXL4","FBXO28","FDXR","FGF12","FGF13","FGFR1","FH","FKBP6","FKRP","FLI1","FMR1","FOXP2","FRMPD4","FRRS1L","FTL","FUCA1","FZR1","GABBR2","GABRA2","GABRA5","GABRB2","GABRD","GABRG2","GAD1","GALC","GBA1","GBA2","GCDH","GDAP2","GET4","GFM2","GIGYF2","GJC2","GLB1","GLE1","GLYCTK","GM2A","GMPPB","GNAO1","GNAQ","GNPTAB","GOLGA2","GON7","GOT2","GPKOW","GRIA2","GRIA3","GRIA4","GRIN1","GRIN2A","GRIN2D","GRM7","GRN","GTF2E2","GTF2H5","GTF2I","GTF2IRD1","GTF2IRD2","GUF1","H3-3A","HACE1","HCN1","HDAC4","HDAC8","HECW2","HEPACAM","HERC1","HEXB","HIC1","HIVEP2","HNF1B","HRAS","HSD17B10","HSD17B4","HSPG2","HTRA1","HTRA2","HTT","HUWE1","IARS2","IBA57","IFIH1","IKBKG","IRF2BPL","ITPA","JPH3","KANK1","KARS1","KCNA1","KCNA2","KCNAB2","KCNB1","KCNMA1","KCNQ2","KCNT1","KCTD7","KDM6A","KIDINS220","KIF1A","KIF1C","KIF26A","KIF7","KMT2D","KRAS","KY","L2HGDH","LAGE3","LARGE1","LHX1","LIAS","LIMK1","LIPT2","LMNB1","LONP1","LRRK2","LSM11","LUZP1","LYRM7","MAF","MAG","MAGEL2","MAN2B1","MAP2K1","MAP2K2","MAPK8IP3","MAPT","MARS2","MBTPS2","MDH2","MECP2","MECR","MED11","MED17","MED25","MED27","MEF2C","METTL27","MFSD8","MINPP1","MLXIPL","MMACHC","MMADHC","MMP23B","MOCS1","MOCS2","MOGS","MORC2","MPDU1","MPLKIP","MRM2","MT-ATP6","MT-ATP8","MT-CO1","MT-CO2","MT-CO3","MT-ND1","MT-ND4","MT-ND5","MT-ND6","MT-TF","MT-TH","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TW","MTR","MTRR","MUC1","MVK","MYO5A","MYO7A","MYT1L","NAA10","NACC1","NADK2","NAGA","NALCN","NANS","NAXD","NCF1","NDE1","NDN","NDP","NDUFA2","NDUFA8","NDUFA9","NDUFAF5","NDUFB8","NECAP1","NEK1","NEUROD2","NEXMIF","NFIX","NGLY1","NIPBL","NKX6-2","NMNAT1","NODAL","NOVA2","NRROS","NSD1","NTRK2","NUP133","NUP214","NUP54","NUP62","NUS1","NUTM2B-AS1","OCA2","OCLN","OFD1","OGDHL","OPA1","OPHN1","OSGEP","OSTM1","OTUD6B","PACS2","PAFAH1B1","PANK2","PARN","PARS2","PCCA","PCCB","PCDH15","PCDHGC4","PCK1","PCLO","PCYT2","PDE6D","PDHA1","PDHX","PDPN","PDZD7","PEX1","PEX16","PEX19","PEX7","PGAP1","PHACTR1","PIGA","PIGG","PIGL","PIGN","PIGP","PIGQ","PIGS","PIGT","PIGU","PIGV","PITRM1","PLA2G6","PLAA","PLCB1","PLK4","PMPCA","PNKP","POGZ","POLA1","POLG","POLG2","POLR3A","POLR3B","POLR3K","POMT1","POMT2","POU4F1","PPFIBP1","PPP2R2B","PPP3CA","PPT1","PQBP1","PRDM16","PRDX1","PRKAR1B","PRKCZ","PRKN","PRNP","PRUNE1","PSAP","PSEN1","PSEN2","PSPH","PTCD3","PTDSS1","PUF60","PUS3","PYCR2","QARS1","RAB18","RAB23","RAB3GAP1","RAB3GAP2","RAD21","RALGAPA1","RARS1","RARS2","RBL2","REPS1","RERE","RFC2","RFT1","RHOBTB2","RMND1","RNASEH1","RNASEH2A","RNASEH2B","RNF113A","RNF125","RNF216","RNU12","RNU4ATAC","RNU7-1","ROGDI","RPS6KA3","RTEL1","RTTN","SACS","SC5D","SCN1A","SCN1B","SCN2A","SCN3A","SCN8A","SCN9A","SCO2","SCYL2","SEPSECS","SERPINI1","SETBP1","SETD2","SHH","SHPK","SHQ1","SIK1","SIX3","SKI","SLC12A5","SLC13A5","SLC17A5","SLC1A2","SLC1A4","SLC25A15","SLC25A22","SLC25A46","SLC2A1","SLC2A3","SLC31A1","SLC32A1","SLC33A1","SLC35A2","SLC35B2","SLC35C1","SLC38A3","SLC39A14","SLC39A4","SLC39A8","SLC5A6","SLC9A6","SLITRK2","SMARCC2","SMC1A","SMC3","SMG9","SNCA","SNORD118","SNRPN","SNX14","SORL1","SOX10","SPATA5","SPEN","SPG11","SPG21","SPG7","SPTAN1","SQSTM1","STAG1","STAMBP","STUB1","STX1A","STX1B","STXBP1","SUCLA2","SUCLG1","SUMF1","SUOX","SYNGAP1","SYNJ1","SYT2","SZT2","TAF2","TANGO2","TARS1","TARS2","TBC1D20","TBC1D24","TBCD","TBCK","TBK1","TBL2","TBP","TCTN3","TDP1","TECPR2","TERT","TGFB1","TIAM1","TIMM50","TIMM8A","TINF2","TK2","TMCO1","TMEM106B","TMEM147","TMEM270","TMEM67","TMEM70","TMX2","TOE1","TOMM40","TP53RK","TPI1","TPP1","TRAF7","TRAK1","TRAPPC11","TRAPPC12","TRAPPC2L","TRAPPC6B","TRAPPC9","TREM2","TREX1","TRIM8","TRIT1","TRNT1","TRPM7","TRRAP","TSEN15","TSEN2","TSEN54","TTC19","TTC26","TTC5","TUBGCP4","TUBGCP6","TWNK","TYROBP","UBA5","UBE3A","UBE4B","UBTF","UCHL1","UFM1","UGP2","UNC80","UQCRC1","USH1C","USH1G","USH2A","VARS1","VCP","VPS13A","VPS13C","VPS16","VPS35","VPS37D","VPS41","VPS4A","VPS53","VRK1","WARS2","WDR45","WDR73","WFS1","WHRN","WIPI2","WWOX","XPA","XPC","YIF1B","YRDC","YWHAE","YWHAG","ZC4H2","ZMIZ1","ZNF335","ZNHIT3","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APLASIA_HYPOPLASIA_OF_THE_CORPUS_CALLOSUM":{"collection":"C5:HPO","systematicName":"M46127","pmid":"","exactSource":"HP:0007370","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007370","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_CORPUS_CALLOSUM","geneSymbols":["AARS1","ABAT","ACER3","ACO2","ACTB","ACTG1","ACTL6B","ACY1","ADAR","ADARB1","ADAT3","ADNP","AHCY","AHDC1","AHI1","AIFM1","AIMP2","AKT3","ALDH6A1","ALDH7A1","ALG12","ALG2","ALG3","ALG8","ALX1","ALX3","ALX4","AMER1","AMPD2","AMT","ANKLE2","ANKRD11","AP1G1","AP3B2","AP4B1","AP4E1","AP4M1","AP4S1","AP5Z1","APC2","ARFGEF2","ARHGAP31","ARID1A","ARID1B","ARID2","ARL13B","ARL3","ARMC9","ARNT2","ARSI","ARX","ASNS","ASPM","ASXL1","ASXL3","ATL1","ATN1","ATP13A2","ATP6AP2","ATP6V1A","ATP9A","ATRX","B3GALNT2","B3GLCT","B4GAT1","B9D1","B9D2","BCL11B","BCOR","BICD2","BLTP1","BMP4","BRAF","BRAT1","BRF1","BUB1","BUB1B","BUB3","C12orf57","C2CD3","CACNA1I","CACNA2D1","CAMSAP1","CARS1","CARS2","CASK","CASZ1","CBY1","CC2D2A","CCDC174","CCDC88A","CD96","CDC40","CDC42","CDC42BPB","CDH2","CDK10","CDK13","CDK5","CDK5RAP2","CDK6","CDK8","CDKL5","CDON","CENPE","CENPF","CENPJ","CEP104","CEP120","CEP135","CEP152","CEP290","CEP41","CEP57","CEP63","CFC1","CHMP1A","CILK1","CIT","CLCN3","CLCN4","CLP1","CNOT1","CNOT3","CNP","CNTNAP1","COASY","COG2","COG4","COG6","COG7","COL4A1","COPB2","COX7B","CPLANE1","CPLX1","CPT2","CREBBP","CRIPT","CRPPA","CSF1R","CSPP1","CTBP1","CTNNA2","CTNNB1","CTU2","CUL4B","CWF19L1","CYP11A1","CYP2U1","DACT1","DAG1","DARS1","DARS2","DCC","DCHS1","DCX","DDHD2","DDX3X","DDX59","DDX6","DEAF1","DHCR24","DHCR7","DHX16","DIAPH1","DIS3L2","DISC1","DISP1","DLL1","DMXL2","DNAL4","DNM1","DOCK7","DONSON","DPAGT1","DPF2","DPH1","DPH2","DPYD","DPYSL5","DYNC1H1","DYNC1I2","DYNC2H1","DYNC2I1","DYNC2I2","DYRK1A","EARS2","EBP","EFNB1","EHMT1","EIF2AK2","EIF2S3","EMC1","EML1","EMX2","EOMES","EP300","EPG5","EPRS1","ERCC2","ERCC3","ERCC5","ERCC6","ERLIN2","ERMARD","EXOC2","EXOC7","EXOC8","EXOSC1","EXOSC8","EXTL3","FA2H","FAM149B1","FANCB","FANCD2","FANCI","FAT4","FBXL4","FBXW11","FCSK","FDFT1","FDXR","FGF8","FGFR1","FGFR2","FGFR3","FGFRL1","FH","FIG4","FKRP","FKTN","FLCN","FLI1","FLII","FLNA","FLVCR2","FOXA2","FOXG1","FOXH1","FRA10AC1","FRMD4A","FRMPD4","GABRA5","GABRB1","GABRD","GAD1","GAS1","GBA1","GBA2","GDF1","GET4","GFER","GFM1","GFM2","GGT1","GJC2","GLDC","GLI2","GLI3","GLRX5","GLUL","GLYCTK","GMPPB","GNAO1","GOT2","GPC3","GPC4","GPKOW","GPSM2","GPT2","GPX4","GRIA3","GRIA4","GRIN1","GRIN2A","GRM7","GTF2E2","GTF2H5","GTPBP2","H3-3A","HACE1","HCCS","HECTD4","HESX1","HIBCH","HIC1","HIVEP2","HK1","HNRNPK","HNRNPR","HNRNPU","HPDL","HRAS","HS2ST1","HSD17B4","HSPA9","HSPG2","HTRA2","HUWE1","HYLS1","IBA57","IER3IP1","IFIH1","IFT140","IFT27","IFT52","IFT74","IFT80","IGBP1","IGF1R","INPP5E","IQSEC2","KANSL1","KAT5","KAT6B","KAT8","KATNB1","KATNIP","KCNA1","KCNAB2","KCNK4","KCNQ2","KCNT1","KCNT2","KCTD7","KDM1A","KDM4B","KDM5B","KIAA0586","KIAA0753","KIDINS220","KIF14","KIF15","KIF26A","KIF2A","KIF5A","KIF5C","KIF7","KIFBP","KMT2C","KNL1","KRAS","L1CAM","LAMB1","LARGE1","LETM1","LHX3","LHX4","LIG4","LMBR1","LMNB1","LMNB2","LNPK","LONP1","LRP2","LRPPRC","LRRC32","LSM11","LSS","LUZP1","MACF1","MAF","MAN2C1","MAP1B","MAPK8IP3","MAPKAPK5","MAPRE2","MBTPS2","MCM7","MCPH1","MDH1","MED12","MED12L","MED25","MEF2C","METTL5","MFSD2A","MID1","MINPP1","MKS1","MLH1","MMP23B","MOCS1","MOCS2","MOGS","MPDZ","MPLKIP","MRPS16","MRPS22","MRPS25","MT-CO1","MT-CO2","MT-CO3","MT-CYB","MT-ND1","MT-ND4","MT-ND5","MT-ND6","MT-TF","MT-TH","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TW","MTHFR","MTHFS","MTOR","MTRFR","NAA10","NADK2","NAE1","NALCN","NANS","NARS1","NARS2","NCAPD3","NDE1","NDUFA2","NDUFAF5","NDUFB11","NEDD4L","NELFA","NEUROD2","NEXMIF","NF1","NFIA","NFIB","NFIX","NHLRC2","NKX2-1","NKX6-2","NMNAT1","NODAL","NONO","NOVA2","NPHP1","NR2F1","NRAS","NRROS","NSD1","NSD2","NSUN2","NT5C2","NTN1","NUP188","NUP37","OCA2","OFD1","OGDHL","OSGEP","OSTM1","OTUD5","OTUD6B","OTX2","PAFAH1B1","PAH","PARS2","PAX6","PCGF2","PCLO","PCNT","PDE6D","PDHA1","PDHB","PDHX","PDPN","PDYN","PEX1","PEX2","PGAP1","PGAP2","PHC1","PHGDH","PIBF1","PIEZO2","PIGA","PIGB","PIGG","PIGN","PIGP","PIGQ","PIGU","PIK3R2","PITX1","PLAA","PLCH1","PLK4","PLPBP","PLXNA1","PMS2","PNKP","POGZ","POLG2","POLR1C","POLR2A","POLR3A","POLR3B","POLR3GL","POMGNT1","POMGNT2","POMK","POMT1","POMT2","PORCN","POU1F1","POU3F3","PPFIBP1","PPIL1","PPP1R12A","PPP1R15B","PPP1R21","PPP2CA","PPP2R1A","PPP2R3C","PRDM16","PRKCZ","PRKDC","PRMT7","PROKR2","PROP1","PRPS1","PRRX1","PRUNE1","PSAP","PSAT1","PTCH1","PTDSS1","PTPN23","PUF60","PUS3","PYCR1","PYCR2","QARS1","RAB18","RAB23","RAB3GAP1","RAB3GAP2","RAC1","RAC3","RAD51","RAI1","RALGAPA1","RARS1","RB1","RECQL4","RELN","REPS1","RERE","RHOBTB2","RMND1","RNASEH2A","RNASEH2B","RNASEH2C","RNF113A","RNF13","RNU4ATAC","RNU7-1","ROBO1","RORA","RPGRIP1","RPGRIP1L","RPS6KA3","RSPO2","RSPRY1","RTTN","RUSC2","RXYLT1","SACS","SALL1","SAMHD1","SARS1","SASS6","SCN1B","SCN2A","SCN3A","SCYL2","SEC31A","SEPSECS","SETBP1","SETD2","SF3B2","SH3PXD2B","SHANK3","SHH","SHMT2","SHOC2","SIK1","SIN3A","SIX3","SIX6","SKI","SLC12A2","SLC12A6","SLC1A2","SLC1A4","SLC25A1","SLC25A10","SLC25A19","SLC25A22","SLC25A24","SLC30A9","SLC32A1","SLC35A2","SLC35B2","SLC5A6","SLC6A8","SLC6A9","SLC9A6","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SMC1A","SMG9","SMO","SNIP1","SON","SOX11","SOX2","SOX3","SOX4","SPATA5","SPATA5L1","SPEN","SPG11","SPG21","SPTAN1","SRPX2","SSR4","STAG2","STAMBP","STIL","STXBP1","SUFU","SUPT16H","SUZ12","SVBP","TAF1","TAF13","TAF2","TARS1","TARS2","TBC1D20","TBC1D23","TBCD","TBCE","TBCK","TCF12","TCF4","TCTN1","TCTN2","TCTN3","TDGF1","TECPR2","TGFB1","TGIF1","THUMPD1","TMCO1","TMEM106B","TMEM107","TMEM138","TMEM216","TMEM218","TMEM231","TMEM237","TMEM260","TMEM67","TMEM70","TMTC3","TMX2","TNR","TOE1","TOGARAM1","TOPORS","TP73","TRAPPC10","TRAPPC12","TRAPPC14","TRAPPC6B","TRAPPC9","TREM2","TREX1","TRIM8","TRIP13","TRMT10A","TRRAP","TSEN15","TSEN2","TSEN34","TSEN54","TTC5","TTI2","TUBA1A","TUBA8","TUBB","TUBB2A","TUBB2B","TUBB3","TUBGCP2","TXNDC15","TYROBP","UBA5","UBE3A","UBE3B","UBE4B","UBTF","UGP2","UNC80","UPF3B","USP7","USP9X","VAC14","VAMP2","VANGL2","VARS1","VARS2","VAX1","VPS11","VPS50","VPS51","VPS53","VWA3B","WAC","WARS1","WDR26","WDR35","WDR4","WDR45B","WDR62","WDR73","WDR81","WLS","WNT3","WT1","WWOX","YARS1","YIF1B","YWHAE","YY1","ZBTB18","ZBTB20","ZDHHC9","ZEB2","ZFR","ZFYVE26","ZIC1","ZIC2","ZMIZ1","ZNF148","ZNF335","ZNF423","ZNF462","ZNF699","ZNHIT3","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CORPUS_CALLOSUM_ATROPHY":{"collection":"C5:HPO","systematicName":"M37054","pmid":"","exactSource":"HP:0007371","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007371","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CORPUS_CALLOSUM_ATROPHY","geneSymbols":["AIMP1","ALDH18A1","ATP8A2","BCAP31","CACNA1E","CLN5","CPSF3","CSF1R","DNM1L","EIF2B4","EMC1","FA2H","FAR1","GBA2","GFM2","HSD17B4","IRF2BPL","L2HGDH","LMNB1","MAG","MAN2B1","MDH2","NDUFA8","OPA1","PEX16","POLR3K","SLITRK2","STUB1","TTC5","VPS41"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ATROPHY_DEGENERATION_INVOLVING_THE_CORTICOSPINAL_TRACTS":{"collection":"C5:HPO","systematicName":"M37055","pmid":"","exactSource":"HP:0007372","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007372","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ATROPHY_DEGENERATION_INVOLVING_THE_CORTICOSPINAL_TRACTS","geneSymbols":["ABCD1","ATL1","BAZ1B","BCL7B","BUD23","CHCHD10","CLIP2","CPT1C","DCTN1","DNAJC30","EIF4H","ELN","FKBP6","FUS","GTF2I","GTF2IRD1","GTF2IRD2","KPNA3","LIMK1","METTL27","MLXIPL","MT-ATP6","NCF1","NEFH","NIPA1","PLP1","PRPH","RFC2","RTN2","SLC33A1","SOD1","SPAST","SPG11","SPG7","SQSTM1","STX1A","TARDBP","TBK1","TBL2","TMEM270","UBAP1","VCP","VPS37D","WASHC5"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MOTOR_NEURON_ATROPHY":{"collection":"C5:HPO","systematicName":"M37056","pmid":"","exactSource":"HP:0007373","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007373","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MOTOR_NEURON_ATROPHY","geneSymbols":["AGTPBP1","ALS2","ANG","ANXA11","ASAH1","ATXN2","ATXN3","C9orf72","CCNF","CEP126","CFAP410","CHCHD10","CHMP2B","CPLANE1","CYLD","DAO","DCTN1","EPHA4","ERBB4","EXOSC3","EXOSC8","EXOSC9","FIG4","FUS","GLE1","GLT8D1","HNRNPA1","HNRNPA2B1","IGHMBP2","KIF5A","MAPT","MATR3","NEFH","NEK1","OPTN","PFN1","PON1","PON2","PON3","PPARGC1A","PRKAR1B","PRPH","PSEN1","RBM28","SETX","SIGMAR1","SLC25A46","SMN1","SMN2","SOD1","SPG11","SPTLC1","SQSTM1","TAF15","TARDBP","TBK1","TFG","TIA1","TREM2","TRPM7","TUBA4A","UBA1","UBQLN2","UNC13A","VAPB","VCP","VRK1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ATROPHY_DEGENERATION_INVOLVING_THE_CAUDATE_NUCLEUS":{"collection":"C5:HPO","systematicName":"M37057","pmid":"","exactSource":"HP:0007374","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007374","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ATROPHY_DEGENERATION_INVOLVING_THE_CAUDATE_NUCLEUS","geneSymbols":["ADAR","ASNS","BSCL2","FOXP2","FTL","HTT","JPH3","MT-ATP6","NDUFAF5","NEK1","NUP54","NUP62","OPHN1","SLC2A3","TIMM8A","TREM2","TYROBP","VPS13A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_SEPTUM_PELLUCIDUM_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M37058","pmid":"","exactSource":"HP:0007375","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007375","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SEPTUM_PELLUCIDUM_MORPHOLOGY","geneSymbols":["ALG12","APC2","ARNT2","B3GALNT2","B4GAT1","BANF1","CDC42BPB","CDON","CILK1","CNOT1","COL18A1","COL4A1","COX7B","CPLX1","CRPPA","CSGALNACT1","CSPP1","CTBP1","DAG1","DHCR24","DISP1","DLL1","DYNC1I2","EHMT1","EZH2","FANCI","FGF8","FGFR1","FGFR2","FGFRL1","FKRP","FKTN","FOXA2","FOXH1","GAS1","GLI2","GPR161","HCCS","HESX1","HYLS1","IDH1","KIAA0586","KIF7","KRAS","L1CAM","LARGE1","LETM1","LHX4","LRRC32","MAPK1","MAPKAPK5","MBTPS2","MED25","MITF","MUSK","NDUFB11","NFIX","NKX2-1","NODAL","NSD1","NSD2","OTX2","PACS1","PAFAH1B1","PCGF2","PIEZO2","PIGA","PIK3CA","PLCH1","POMGNT1","POMGNT2","POMK","POMT1","POMT2","POU1F1","PPP1R12A","PPP1R21","PPP2R5D","PROKR2","PROP1","PTCH1","PTDSS1","RAB5IF","RBM8A","RNF125","ROBO1","RSPO2","RXYLT1","SETD2","SHH","SIX3","SMG8","SOX2","SOX3","SSR4","STAG2","STIL","STT3A","TAF1","TDGF1","TGIF1","TUBB2B","WDR11","WNT3","ZIC2","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CHOROID_PLEXUS_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M37059","pmid":"","exactSource":"HP:0007376","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007376","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CHOROID_PLEXUS_MORPHOLOGY","geneSymbols":["CDKN2A","CHEK2","CTSC","EXOC8","FH","FOXF1","GNAS","IFT43","MDM2","NEDD4L","NPHP3","NRAS","PHGDH","SETBP1","SMARCB1","TP53","ZBTB18","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_SOMATOSENSORY_EVOKED_POTENTIALS":{"collection":"C5:HPO","systematicName":"M37060","pmid":"","exactSource":"HP:0007377","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007377","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_SOMATOSENSORY_EVOKED_POTENTIALS","geneSymbols":["ABCD1","ATXN1","CYP27A1","EPM2A","GJC2","LMNB1","MARCHF6","MORC2","NHLRC1","PLP1","PRPS1","SAMD12","SEMA6B","STARD7","TBC1D24","TIMM8A","TTPA","YEATS2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NEOPLASM_OF_THE_GENITOURINARY_TRACT":{"collection":"C5:HPO","systematicName":"M37062","pmid":"","exactSource":"HP:0007379","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007379","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_GENITOURINARY_TRACT","geneSymbols":["AAGAB","ADA2","AKT1","ALX4","APC","APC2","AR","ARMC5","ASXL1","ATP7A","AURKA","AXIN2","B3GALT6","BAP1","BARD1","BAX","BCL10","BLM","BMPER","BMPR1A","BRAF","BRCA1","BRCA2","BRIP1","BUB1","BUB1B","BUB3","C1S","CCND1","CDC73","CDH1","CDKN1B","CDKN1C","CDKN2A","CEP57","CHEK2","COL14A1","COL4A5","COL4A6","COQ6","CREBBP","CTNNB1","CXCR4","CYP11B1","DCC","DHH","DHX37","DICER1","DIS3L2","DLC1","DLST","DMRT3","DOCK8","EP300","EPCAM","EPHB2","ERBB2","EWSR1","EXT2","FAN1","FERMT1","FGFR2","FGFR3","FH","FIBP","FLCN","FLI1","FOXE1","GATA1","GATA2","GATA4","GNAS","GPC3","GPC4","GREM1","H19","HABP2","HDAC4","HEATR3","HNF1A","HNF1B","HRAS","IDH1","IDH2","IFNG","IGF2","KANSL1","KCNQ1","KCNQ1OT1","KEAP1","KIF1B","KIT","KLF6","KLLN","KRAS","LMNA","LZTR1","MAD1L1","MAP3K1","MAX","MBD4","MC2R","MCC","MDH2","MDM2","MET","MINPP1","MLH1","MLH3","MNX1","MRAP","MRE11","MSH2","MSH3","MSH6","MVK","MXI1","NAB2","NBN","NF1","NF2","NNT","NOD2","NR0B1","NR5A1","NRAS","NSD1","NTHL1","OGG1","OPCML","PALB2","PALLD","PAX6","PBRM1","PDE11A","PDGFRL","PHF21A","PIK3CA","PLA2G2A","PMS1","PMS2","POLD1","POLE","POT1","POU6F2","PRCC","PRKAR1A","PRKN","PTCH1","PTEN","PTPN12","PTPRJ","RABL3","RAD50","RAD51","RAD51C","RAD51D","RAD54B","RB1","RELA","REST","RET","RNASEL","RNF139","RNF43","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS7","SDHA","SDHAF2","SDHB","SDHC","SDHD","SEC23B","SEMA4A","SETBP1","SETD2","SLC25A11","SLC6A17","SMAD4","SMARCA4","SMARCB1","SOX9","SPRED1","SRC","SRY","STAG3","STAR","STAT6","STK11","STS","TFE3","TGFBR2","TLR2","TMEM127","TP53","TRIM28","TRIM37","TRIP13","TSC1","TSC2","TSR2","TXNRD2","USF3","VAMP7","VHL","WNT10A","WRN","WT1","WWOX","ZFHX3","ZFPM2","ZFTA"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FACIAL_TELANGIECTASIA":{"collection":"C5:HPO","systematicName":"M37063","pmid":"","exactSource":"HP:0007380","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007380","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FACIAL_TELANGIECTASIA","geneSymbols":["ACVRL1","ARPC4","ARX","ATR","ATRX","BLM","CAST","DAXX","GNPTAB","POLE","SDHD","SLC29A3","SLC2A10","SOX18","VPS53","WNT10A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CONGENITAL_LOCALIZED_ABSENCE_OF_SKIN":{"collection":"C5:HPO","systematicName":"M37064","pmid":"","exactSource":"HP:0007383","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007383","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONGENITAL_LOCALIZED_ABSENCE_OF_SKIN","geneSymbols":["BMS1","COL7A1","DLL4","ITGB4","LAMA3","LAMB3","LAMC2","PLEC","UBA2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APLASIA_CUTIS_CONGENITA_OF_SCALP":{"collection":"C5:HPO","systematicName":"M37065","pmid":"","exactSource":"HP:0007385","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007385","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_CUTIS_CONGENITA_OF_SCALP","geneSymbols":["ALG9","ALX4","ARHGAP31","BMS1","CDH1","CPLX1","CTBP1","DLL4","FGFRL1","ITGA6","ITGB4","LETM1","MCTP2","MSX2","NELFA","NSD2","PIGG","PLEC","UBA2","UBR1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_EXCESSIVE_WRINKLED_SKIN":{"collection":"C5:HPO","systematicName":"M37066","pmid":"","exactSource":"HP:0007392","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007392","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EXCESSIVE_WRINKLED_SKIN","geneSymbols":["ABCC6","ACD","ADAMTS2","ADAMTSL2","ATP6V0A2","ATP6V1A","ATP6V1E1","BRAF","C1R","CFTR","COG7","COL3A1","CSTA","DKC1","ENPP1","FGFR2","FGFR3","H4C5","KRAS","LZTR1","MAP2K1","MAP2K2","MRAS","PARN","PIK3R1","PLOD1","PTEN","PTPN11","PYCR1","RAF1","RIT1","RTEL1","SMARCA2","TBL1XR1","TERT","TGM5","TINF2","TWIST2","ZNF469"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PROMINENT_SUPERFICIAL_BLOOD_VESSELS":{"collection":"C5:HPO","systematicName":"M37067","pmid":"","exactSource":"HP:0007394","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007394","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROMINENT_SUPERFICIAL_BLOOD_VESSELS","geneSymbols":["AEBP1","AGPAT2","ALDH18A1","ANTXR1","ATP6V0A2","ATP6V1A","ATP6V1E1","BANF1","BSCL2","C1R","C1S","CAV1","CAVIN1","COG4","FLT4","FOS","G6PC3","GPR35","IPO8","LEMD2","LMNA","MST1","PDGFRB","PIK3R1","POLR3A","PPARG","PPP1R15B","PTDSS1","PYCR1","RASA1","SEMA4D","SLC25A24","SLC39A13","TCF4","VEGFC","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_IRREGULAR_HYPERPIGMENTATION":{"collection":"C5:HPO","systematicName":"M37068","pmid":"","exactSource":"HP:0007400","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007400","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IRREGULAR_HYPERPIGMENTATION","geneSymbols":["ABCB6","ABCC9","ABCD1","ACP5","ACTB","AKT1","ANAPC1","ANKLE2","APC","ARL6IP6","ATM","ATP2A2","BANF1","BLM","BRAF","BRCA1","BRCA2","BRIP1","BUB1","BUB1B","BUB3","C1R","C1S","CARD14","CASR","CBL","CD28","CDKN1A","CDKN1B","CDKN1C","CDKN2B","CDKN2C","CEP57","CHN1","CIB1","CLCN7","CLTRN","COL17A1","COL25A1","COL3A1","COL7A1","COPB1","CREBBP","CRIPT","CTC1","CTLA4","CWC27","CYBA","CYBB","CYBC1","DDB2","DDX11","DHX30","DKC1","DNASE1L3","DSTYK","EP300","ERCC1","ERCC2","ERCC3","ERCC4","ERCC5","ERCC6","ERCC8","ESCO2","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FERMT1","FGFR1","FGFR3","GJA1","GJB3","GJB4","GNA11","GNAQ","GNAS","GNB2","GPNMB","H4C5","HEPACAM","HGD","HMGA2","HRAS","IFNG","IGF1","IGF2","IKBKG","IL6","IL7","INSR","KANSL1","KDM5C","KDM6A","KDM6B","KDSR","KIT","KITLG","KLLN","KMT2D","KRAS","KRT14","KRT5","LBR","LMNA","LYST","LZTR1","MAD2L2","MAFB","MAN1B1","MAP2K1","MAP2K2","MAPK1","MAPRE2","MAX","MED12","MEN1","MLH1","MMP2","MSH2","MSH6","MTOR","NBN","NCF1","NCF2","NCF4","NDUFB11","NF1","NF2","NHP2","NOP10","NOTCH3","NPM1","NRAS","PALB2","PARN","PCNT","PDE11A","PDGFRA","PDGFRB","PHIP","PIK3CA","PLAG1","PLEC","PLXND1","PMS2","POFUT1","POGLUT1","POLA1","POLE","PORCN","PPP1CB","PRKAR1A","PSENEN","PTEN","PTPN11","RAD51","RAD51C","RAF1","RBBP8","RERE","RET","REV3L","RFWD3","RFX7","RPA1","RTEL1","SALL4","SASH1","SDHA","SDHB","SDHC","SDHD","SEC23A","SEC23B","SET","SETBP1","SH3PXD2B","SHOC2","SKIC2","SKIC3","SLC6A19","SLC9A1","SLF2","SLX4","SMARCA2","SMARCAD1","SMARCAL1","SOX10","SPINK5","SPRED1","SRD5A3","ST3GAL5","STEAP3","STK11","SVBP","TERC","TERT","TINF2","TMC6","TMC8","TMEM127","TNFRSF1A","TNFRSF1B","TOP3A","TP53","TP53RK","TP63","TRIP13","TSC1","TSC2","TUBB","TWIST2","TYMS","UBE2T","UBR1","USB1","USF3","VHL","WASF1","WBP11","WRAP53","XPA","XPC","XRCC2","ZFHX4","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MACULAR_ATROPHY":{"collection":"C5:HPO","systematicName":"M37069","pmid":"","exactSource":"HP:0007401","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007401","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MACULAR_ATROPHY","geneSymbols":["AIPL1","ARL2BP","ATF6","C1QTNF5","CFAP418","CFH","CFI","CNNM4","DHX38","DRAM2","EFEMP1","ELOVL4","EPG5","GBA1","GUCA1A","GUCY2D","HK1","HLA-A","IFT140","KCNV2","LZTFL1","MAPKAPK3","MERTK","NMNAT1","NRL","PCYT1A","PLK4","PRPF31","PRPH2","RAX2","RDH5","RHO","RLBP1","RP9","RS1","SH3BP2","SIX6","SLC24A1","SLC6A6","TNFRSF11B","UNC119","WDR19","YARS1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NEVUS_FLAMMEUS_OF_THE_FOREHEAD":{"collection":"C5:HPO","systematicName":"M46128","pmid":"","exactSource":"HP:0007413","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007413","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEVUS_FLAMMEUS_OF_THE_FOREHEAD","geneSymbols":["ASXL2","CDK10","CDK13","FRA10AC1","LBR","MED25","PLP1","RBM8A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DISCOID_LUPUS_RASH":{"collection":"C5:HPO","systematicName":"M37072","pmid":"","exactSource":"HP:0007417","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007417","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DISCOID_LUPUS_RASH","geneSymbols":["BANK1","BLK","C1QB","C1QC","C4A","C4B","CR2","CTLA4","CYBA","CYBB","DNASE1","ETS1","FCGR2B","FCGR3B","HLA-DRB1","IGHG1","IL10","IRAK1","IRF5","ITGAM","JAZF1","KIAA0319L","LEMD3","MECP2","NCF1","NCF2","PDCD1","PTPN22","PXK","SAT1","SPP1","STAT4","TLR7","TNFAIP3","TNFSF4","TNIP1","TREX1","UBE2L3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ALOPECIA_TOTALIS":{"collection":"C5:HPO","systematicName":"M37073","pmid":"","exactSource":"HP:0007418","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007418","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ALOPECIA_TOTALIS","geneSymbols":["ALX4","ANAPC1","DSP","FOXN1","GJB6","JUP","LMNA","LSS","MBTPS2","NFKB2","RECQL4","RIPK4","UQCRFS1","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SPONTANEOUS_HEMATOMAS":{"collection":"C5:HPO","systematicName":"M37074","pmid":"","exactSource":"HP:0007420","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007420","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPONTANEOUS_HEMATOMAS","geneSymbols":["ACVRL1","ATP7A","CD109","COG8","ENG","F10","F13A1","F13B","F5","F8","GDF2","GP1BA","GP1BB","GP9","ITGA2","ITGA2B","ITGB3","PRKACG","SERPINE1","SMAD4","WAS","WIPF1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RETICULATED_SKIN_PIGMENTATION":{"collection":"C5:HPO","systematicName":"M37075","pmid":"","exactSource":"HP:0007427","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007427","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETICULATED_SKIN_PIGMENTATION","geneSymbols":["DKC1","KRT14","KRT5","NHP2","TERT","TINF2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FEW_CAFE_AU_LAIT_SPOTS":{"collection":"C5:HPO","systematicName":"M46129","pmid":"","exactSource":"HP:0007429","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007429","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FEW_CAFE_AU_LAIT_SPOTS","geneSymbols":["BRAF","GNB2","RBBP8","RFX7","SET","TRIP13"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_GENERALIZED_EDEMA":{"collection":"C5:HPO","systematicName":"M37076","pmid":"","exactSource":"HP:0007430","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007430","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENERALIZED_EDEMA","geneSymbols":["ARHGDIA","CALCRL","CD46","CD55","CFH","CFI","DEF6","DOK7","DPAGT1","FARSB","FSHR","HELLPAR","MOGS","MYLK","NOS1AP","PHGDH","PIEZO1","PLVAP","PMM2","POLG","PRF1","PRKAG2","SCARB2","TMEM260","TTC26","UBR1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CONGENITAL_ICHTHYOSIFORM_ERYTHRODERMA":{"collection":"C5:HPO","systematicName":"M37077","pmid":"","exactSource":"HP:0007431","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007431","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONGENITAL_ICHTHYOSIFORM_ERYTHRODERMA","geneSymbols":["ABCA12","ABHD5","ALOX12B","ALOXE3","ASPRV1","CERS3","CYP4F22","EBP","ELOVL4","ERCC2","ERCC3","GBA1","GJB2","GJB6","GTF2H5","KDSR","KRT1","KRT10","KRT16","KRT2","LORICRIN","NIPAL4","NSDHL","PNPLA1","POMP","SPINK5","ST14","STS","SULT2B1","TARS1","TGM1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_GENERALIZED_HYPERPIGMENTATION":{"collection":"C5:HPO","systematicName":"M37079","pmid":"","exactSource":"HP:0007440","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007440","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENERALIZED_HYPERPIGMENTATION","geneSymbols":["AAAS","ACD","AIP","AKT1","ALDH3A2","ATP6V1B2","BMP6","BRAF","CYP11A1","DKC1","GMPPA","GPNMB","GPR101","HAMP","HFE","HJV","HRAS","INSR","IRF4","KCNH1","KCNMA1","KCNN3","KRAS","KRT14","KRT5","MAP2K1","MAP2K2","MC2R","MRAP","MYO5A","NNT","PARN","PAX6","POLA1","PTEN","RTEL1","STAR","TERT","TINF2","TRAPPC11","TXNRD2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPERPIGMENTED_HYPOPIGMENTED_MACULES":{"collection":"C5:HPO","systematicName":"M47121","pmid":"","exactSource":"HP:0007441","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007441","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERPIGMENTED_HYPOPIGMENTED_MACULES","geneSymbols":["ADAR","DPP9","KRT5","PIGN","SASH1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PARTIAL_ALBINISM":{"collection":"C5:HPO","systematicName":"M37080","pmid":"","exactSource":"HP:0007443","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007443","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PARTIAL_ALBINISM","geneSymbols":["KIT","LAMTOR2","MITF","MLPH","MYO5A","PAX3","RAB27A","TYRP1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PALMOPLANTAR_BLISTERING":{"collection":"C5:HPO","systematicName":"M41353","pmid":"","exactSource":"HP:0007446","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007446","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PALMOPLANTAR_BLISTERING","geneSymbols":["COL7A1","DSG1","KRT1","KRT14","KRT16","KRT17","KRT5","KRT6A","KRT6B","PKP1","PLEC"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DIFFUSE_PALMOPLANTAR_HYPERKERATOSIS":{"collection":"C5:HPO","systematicName":"M43334","pmid":"","exactSource":"HP:0007447","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007447","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DIFFUSE_PALMOPLANTAR_HYPERKERATOSIS","geneSymbols":["AQP5","JUP","KLHL24","KRT1","KRT16","KRT9","RHBDF2","SERPINA12","SLURP1","SNAP29"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CONFETTI_LIKE_HYPOPIGMENTED_MACULES":{"collection":"C5:HPO","systematicName":"M37081","pmid":"","exactSource":"HP:0007449","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007449","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONFETTI_LIKE_HYPOPIGMENTED_MACULES","geneSymbols":["CDKN1A","CDKN1B","CDKN2B","CDKN2C","IFNG","MEN1","NONO","TSC1","TSC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PROMINENT_VEINS_ON_TRUNK":{"collection":"C5:HPO","systematicName":"M37082","pmid":"","exactSource":"HP:0007457","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007457","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROMINENT_VEINS_ON_TRUNK","geneSymbols":["AEBP1","ATP6V0A2","ATP6V1A","ATP6V1E1","PPARG"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_AUTOAMPUTATION_OF_DIGITS":{"collection":"C5:HPO","systematicName":"M47122","pmid":"","exactSource":"HP:0007460","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007460","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AUTOAMPUTATION_OF_DIGITS","geneSymbols":["ATL1","GJB2","KIF1A","KRT1","MPV17","NTRK1","RETREG1","SCN9A","SPTLC2","TGM1","TREX1","TRPV3","VPS33B","WNK1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HEMANGIOMATOSIS":{"collection":"C5:HPO","systematicName":"M37084","pmid":"","exactSource":"HP:0007461","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007461","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEMANGIOMATOSIS","geneSymbols":["ACVRL1","AKT1","CCND1","EIF2AK4","ENG","FGFR1","FGFR2","GDF2","GNAQ","IDH1","IDH2","KRAS","PIK3CA","PTEN","PTH1R","RASA1","SLC26A2","SMAD4","TEK","VHL"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_DERMATOGLYPHICS":{"collection":"C5:HPO","systematicName":"M37085","pmid":"","exactSource":"HP:0007477","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007477","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_DERMATOGLYPHICS","geneSymbols":["ADAMTSL1","ADNP","AFF3","AIP","ALDH6A1","ANKRD11","APC","ARID1B","ARL3","ASXL1","ASXL2","ASXL3","ATP6V0A2","ATP6V1B2","ATR","AUTS2","B3GLCT","B4GALT7","BAZ1B","BCL7B","BCOR","BHLHA9","BICD2","BMP4","BMPR1B","BRAF","BRD4","BRF1","BUD23","CBL","CCBE1","CCDC32","CCNQ","CD96","CDC42BPB","CDK10","CDK19","CEP55","CEP57","CHD7","CHST14","CHST3","CILK1","CKAP2L","CLCN7","CLIP2","COG1","COL17A1","COL25A1","COX14","COX7B","CPLX1","CREBBP","CSGALNACT1","CSNK2A1","CTBP1","CTCF","DDX11","DHCR7","DHODH","DHX30","DIS3L2","DLK1","DLX4","DNAJC30","DOCK6","DOK7","DPAGT1","DPH1","DPH2","DPYD","DSE","EHMT1","EIF4H","ELN","EP300","ERGIC1","ESCO2","EXT1","EXTL3","EYA1","EZH2","FBXO28","FGD1","FGF9","FGFR2","FGFR3","FGFRL1","FIG4","FKBP6","FLNA","FOXP1","G6PC3","GATA1","GDF5","GJA5","GJA8","GLE1","GLYCTK","GNB2","GPKOW","GPR101","GRIN1","GTF2I","GTF2IRD1","GTF2IRD2","H3-3A","H4C9","HCCS","HDAC4","HDAC8","HNRNPK","HOXA13","HRAS","IFT122","IFT43","IFT57","IGF1","ITCH","JARID2","KAT6B","KATNB1","KCNH1","KCNK9","KCNMA1","KCNN3","KDM4B","KDM6A","KIF21A","KMT2D","KRAS","KRT14","LETM1","LIFR","LIMK1","LMX1B","LONP1","LRP4","LTBP1","LTBP4","LZTR1","MAP1B","MAP2K1","MAP2K2","MAP3K7","MCTP2","MED12","MED25","MEF2C","MEG3","MEGF8","METTL27","MLXIPL","MRAS","MSL3","MTFMT","MTOR","MTX2","MUSK","MYH3","MYOD1","NAA10","NAA20","NALCN","NBAS","NCF1","NDUFB11","NECTIN1","NEXMIF","NGLY1","NIPBL","NOG","NRAS","NSD2","NSDHL","NUP107","NUP188","NUP88","NXN","OTUD5","PACS1","PAX1","PDHA1","PEPD","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PGM2L1","PIEZO2","PIGL","PIGS","PKDCC","PLAA","PLOD3","PNPLA6","POLRMT","PORCN","PPP2CA","PPP2R3C","PPP3CA","PRR12","PTPN11","PTPRF","PUF60","RAB11B","RAB3GAP1","RAB3GAP2","RAD21","RAF1","RAPSN","RASA2","RB1","RBM10","RFC2","RIN2","RIPK4","RIT1","RNU4ATAC","ROR2","RPL10","RPS23","RPS6KA3","RRAS","RRAS2","RTL1","SALL4","SCYL2","SEPSECS","SET","SETBP1","SHOC2","SLC18A3","SLC25A12","SLC25A24","SLC39A13","SMAD2","SMARCA2","SMARCAD1","SMC1A","SMC3","SMC5","SMOC1","SMPD4","SMS","SOS1","SOS2","SPECC1L","SPRED2","SPRTN","SPTBN1","STAG1","STX1A","STXBP1","TAF6","TASP1","TBL1XR1","TBL2","TBX4","TCF12","TCF4","TELO2","TFAP2A","TGDS","THOC2","TMEM147","TMEM270","TNNI2","TNNT3","TOE1","TP63","TPM2","TRIM37","TRIM8","TRIO","TRPS1","TSEN15","TSEN2","TSEN34","TSEN54","TUBA1A","TWIST1","TYMS","UBE3B","UBR1","UBR7","UFC1","VAC14","VPS13B","VPS33A","VPS37D","VPS51","WAC","WDR37","XYLT1","YY1","ZMYM2","ZNF292","ZNF462"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CONGENITAL_NONBULLOUS_ICHTHYOSIFORM_ERYTHRODERMA":{"collection":"C5:HPO","systematicName":"M37086","pmid":"","exactSource":"HP:0007479","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007479","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONGENITAL_NONBULLOUS_ICHTHYOSIFORM_ERYTHRODERMA","geneSymbols":["ABCA12","ABHD5","ALOX12B","ALOXE3","ASPRV1","CERS3","CYP4F22","EBP","ELOVL4","ERCC2","ERCC3","GBA1","GTF2H5","KDSR","KRT10","LORICRIN","NIPAL4","PNPLA1","POMP","SPINK5","SULT2B1","TARS1","TGM1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABSENCE_OF_SUBCUTANEOUS_FAT":{"collection":"C5:HPO","systematicName":"M37087","pmid":"","exactSource":"HP:0007485","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007485","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENCE_OF_SUBCUTANEOUS_FAT","geneSymbols":["AARS1","CARS1","CAV1","ERCC2","ERCC3","ERCC4","FBN1","GTF2E2","GTF2H5","KCNJ6","LMNA","MPLKIP","PIK3R1","POLR3A","PRIM1","RNF113A","TARS1","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LINEAR_ARRAYS_OF_MACULAR_HYPERKERATOSES_IN_FLEXURAL_AREAS":{"collection":"C5:HPO","systematicName":"M41354","pmid":"","exactSource":"HP:0007490","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007490","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LINEAR_ARRAYS_OF_MACULAR_HYPERKERATOSES_IN_FLEXURAL_AREAS","geneSymbols":["KRT16","KRT17","KRT6A","KRT6B","POMP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PREMATURELY_AGED_APPEARANCE":{"collection":"C5:HPO","systematicName":"M37088","pmid":"","exactSource":"HP:0007495","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007495","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PREMATURELY_AGED_APPEARANCE","geneSymbols":["AARS1","ABCC6","ACD","ADAMTS2","ADAMTSL2","AEBP1","ALDH18A1","ALG8","ANTXR1","AP2M1","ATM","ATP6V0A2","ATP6V1A","ATP6V1E1","ATR","ATRIP","B4GALT7","BANF1","BAZ1B","BCL7B","BRAF","BRCC3","BUD23","C1R","CARS1","CAV1","CDH11","CENPE","CENPJ","CEP152","CFTR","CHD2","CLIP2","COG4","COG5","COG7","COL1A1","COL3A1","COL5A1","COL5A2","CSTA","CTC1","CYP27A1","DKC1","DNA2","DNAJC30","DPP9","DSTYK","EDA","EDAR","EDARADD","EDN3","EDNRB","EIF4H","ELN","ENPP1","ERCC1","ERCC2","ERCC3","ERCC4","ERCC5","ERCC6","ERCC8","EXOSC2","FAS","FBLN5","FBN1","FGFR2","FGFR3","FKBP6","GHR","GJB2","GJB6","GORAB","GTF2E2","GTF2H5","GTF2I","GTF2IRD1","GTF2IRD2","H4C5","INSR","KCNJ6","KITLG","KRAS","LIFR","LIMK1","LMNA","LMNB2","LTBP4","LZTR1","MAP2K1","MAP2K2","MDM2","MED12","METTL27","MITF","MLXIPL","MPLKIP","MRAS","MRPS2","MTAP","MTX2","MYO5A","NAA10","NAF1","NCF1","NEXMIF","NHP2","NOP10","NPM1","NUP85","PARN","PAX3","PCNA","PCNT","PDGFRB","PIK3R1","PLK4","PLOD1","POLR3A","PSMB8","PTDSS1","PTEN","PTPN11","PTPN22","PYCR1","RAB27A","RAB3GAP1","RAB3GAP2","RAF1","RBBP8","RECQL","RECQL4","RFC2","RIT1","RNF113A","RPA1","RTEL1","SCN1A","SLC25A24","SLC2A1","SLC2A10","SLC5A6","SLC6A1","SMARCA2","SNAI2","SOX10","SPRTN","STN1","STUB1","STX1A","SYNGAP1","TALDO1","TARS1","TBL1XR1","TBL2","TERC","TERT","TFAP2A","TGM5","TINF2","TMEM270","TOR1A","TRAIP","TWIST2","TYMS","TYR","USB1","VPS37D","WRAP53","WRN","ZMPSTE24","ZNF469","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RECURRENT_STAPHYLOCOCCAL_INFECTIONS":{"collection":"C5:HPO","systematicName":"M37089","pmid":"","exactSource":"HP:0007499","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007499","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_STAPHYLOCOCCAL_INFECTIONS","geneSymbols":["CEACAM3","CEACAM6","CFTR","CIITA","CLCA4","CYBA","CYBB","DCTN4","EDNRA","FCN3","GCLC","GSTM3","HFE","HMOX1","IL17RA","IRAK4","ITGB2","KCNN4","LYST","MIF","NCF1","NCF2","NTRK1","PGM3","RFX5","RFXANK","RFXAP","SERPINA1","SLC11A1","SLC26A9","SLC6A14","SLC9A3","STAT3","STX1A","TGFB1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FOLLICULAR_HYPERKERATOSIS":{"collection":"C5:HPO","systematicName":"M37090","pmid":"","exactSource":"HP:0007502","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007502","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOLLICULAR_HYPERKERATOSIS","geneSymbols":["CAST","COL6A1","COL6A2","COL6A3","DDR2","DSC3","DSG4","FKBP14","GJB2","GJB6","KRT16","KRT17","KRT6A","KRT6B","KRT81","KRT83","KRT86","LRP1","MBTPS2","NLRP1","PKP1","PLOD1","POFUT1","PSENEN","RBP4","RHBDF2","SLC27A4","SREBF1","TARS1","TRIP4","WNT10A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_GENERALIZED_ICHTHYOSIS":{"collection":"C5:HPO","systematicName":"M46130","pmid":"","exactSource":"HP:0007503","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007503","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENERALIZED_ICHTHYOSIS","geneSymbols":["LORICRIN","NIPAL4","PHGDH","PNPLA1","SLC27A4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_GENERALIZED_HYPOPIGMENTATION":{"collection":"C5:HPO","systematicName":"M37091","pmid":"","exactSource":"HP:0007513","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007513","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENERALIZED_HYPOPIGMENTATION","geneSymbols":["AP3B1","AP3D1","BLOC1S3","BLOC1S5","CACNA1F","DTNBP1","EDNRB","EPG5","HERC2","HPS1","HPS3","HPS4","HPS5","HPS6","KRT5","LRMDA","LYST","MAGEL2","MC1R","MITF","MKRN3","NPAP1","OCA2","OCRL","PAH","PWAR1","PWRN1","SKIC2","SKIC3","SLC24A5","SLC45A2","SNORD115-1","SNORD116-1","TP63","TYR","TYRP1","WDR45","ZPR1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_EDEMA_OF_THE_DORSUM_OF_HANDS":{"collection":"C5:HPO","systematicName":"M37092","pmid":"","exactSource":"HP:0007514","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007514","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EDEMA_OF_THE_DORSUM_OF_HANDS","geneSymbols":["ACTA1","ANGPT1","EPHB4","HS3ST6","KLHL40","KLHL41","KNG1","LMOD3","NEB","PLAA","RBM8A","RNF13","SERPING1","TGM1","ZNHIT3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PALMOPLANTAR_CUTIS_LAXA":{"collection":"C5:HPO","systematicName":"M37093","pmid":"","exactSource":"HP:0007517","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007517","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PALMOPLANTAR_CUTIS_LAXA","geneSymbols":["ATP6V0A2","C1R","FGFR2","FGFR3","LZTR1","MRAS","PLOD1","RIT1","ZNF469"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INCREASED_NUMBER_OF_SKIN_FOLDS":{"collection":"C5:HPO","systematicName":"M45424","pmid":"","exactSource":"HP:0007522","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007522","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_NUMBER_OF_SKIN_FOLDS","geneSymbols":["ALDH18A1","ELN","FBLN5","GGCX","MAPRE2","TUBB"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PUNCTATE_PALMOPLANTAR_HYPERKERATOSIS":{"collection":"C5:HPO","systematicName":"M46131","pmid":"","exactSource":"HP:0007530","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007530","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PUNCTATE_PALMOPLANTAR_HYPERKERATOSIS","geneSymbols":["AAGAB","ATP2A2","CAST","ENPP1","KRT14","KRT5"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SEVERE_PHOTOSENSITIVITY":{"collection":"C5:HPO","systematicName":"M43335","pmid":"","exactSource":"HP:0007537","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007537","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEVERE_PHOTOSENSITIVITY","geneSymbols":["DHCR7","EPM2A","GATA1","NHLRC1","UROD","UROS"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_EPIDERMAL_HYPERKERATOSIS":{"collection":"C5:HPO","systematicName":"M43336","pmid":"","exactSource":"HP:0007543","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007543","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EPIDERMAL_HYPERKERATOSIS","geneSymbols":["BRAF","ELOVL4","GJA1","KRT1","KRT16","KRT9","LMNA","SOX18","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_SUBCUTANEOUS_FAT_TISSUE_DISTRIBUTION":{"collection":"C5:HPO","systematicName":"M37095","pmid":"","exactSource":"HP:0007552","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007552","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SUBCUTANEOUS_FAT_TISSUE_DISTRIBUTION","geneSymbols":["AKT1","ATP6V0A2","ATP6V1A","ATP6V1E1","PMM2","PTEN","TBL1XR1","TGFB1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MULTIPLE_CAFE_AU_LAIT_SPOTS":{"collection":"C5:HPO","systematicName":"M37097","pmid":"","exactSource":"HP:0007565","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007565","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MULTIPLE_CAFE_AU_LAIT_SPOTS","geneSymbols":["ABCB6","AKT1","ARL6IP6","ATM","BRAF","BRCA1","BRCA2","BRIP1","BUB1","BUB1B","BUB3","CEP57","CIB1","ERCC4","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","GNA11","IL7","KDM5C","KLLN","KRAS","MAD2L2","MAN1B1","MAP2K1","MAP2K2","MLH1","MSH2","MSH6","NF1","PALB2","PCNT","PDE11A","PIK3CA","PLXND1","PMS2","PRKAR1A","PTEN","RAD51","RAD51C","RERE","REV3L","RFWD3","SDHB","SDHC","SDHD","SEC23B","SLX4","SPRED1","TMC6","TMC8","TP63","TRIP13","TWIST2","UBE2T","USF3","XRCC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NUMEROUS_PIGMENTED_FRECKLES":{"collection":"C5:HPO","systematicName":"M37098","pmid":"","exactSource":"HP:0007587","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007587","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NUMEROUS_PIGMENTED_FRECKLES","geneSymbols":["AARS1","CARS1","ERCC2","ERCC3","ERCC4","ERCC5","GTF2E2","GTF2H5","MITF","MPLKIP","RNF113A","TARS1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RETICULAR_HYPERPIGMENTATION":{"collection":"C5:HPO","systematicName":"M37099","pmid":"","exactSource":"HP:0007588","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007588","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETICULAR_HYPERPIGMENTATION","geneSymbols":["KRT14","NHP2","NOP10","POFUT1","POLA1","PORCN","RPA1","TERC","TERT","TINF2","TP53","USB1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APLASIA_CUTIS_CONGENITA_ON_TRUNK_OR_LIMBS":{"collection":"C5:HPO","systematicName":"M43337","pmid":"","exactSource":"HP:0007589","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007589","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_CUTIS_CONGENITA_ON_TRUNK_OR_LIMBS","geneSymbols":["ARHGAP31","ITGA6","ITGB4","KRT14","KRT5","PLEC"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BILATERAL_SINGLE_TRANSVERSE_PALMAR_CREASES":{"collection":"C5:HPO","systematicName":"M37100","pmid":"","exactSource":"HP:0007598","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007598","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BILATERAL_SINGLE_TRANSVERSE_PALMAR_CREASES","geneSymbols":["BMPR1B","BRD4","CCBE1","CD96","CHST3","CKAP2L","DIS3L2","DPH1","DPH2","ESCO2","EXT1","FGF9","FGFR2","FGFR3","FIG4","GDF5","HDAC4","HDAC8","KAT6B","MYH3","NALCN","NECTIN1","NIPBL","NOG","NUP188","NXN","PEPD","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PNPLA6","PTPRF","RAD21","RNU4ATAC","ROR2","SEPSECS","SMAD2","SMC1A","SMC3","SMOC1","TBX4","TELO2","TNNI2","TNNT3","TPM2","TRPS1","TSEN15","TSEN2","TSEN34","TSEN54","TWIST1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_EXCESSIVE_WRINKLING_OF_PALMAR_SKIN":{"collection":"C5:HPO","systematicName":"M37101","pmid":"","exactSource":"HP:0007605","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007605","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EXCESSIVE_WRINKLING_OF_PALMAR_SKIN","geneSymbols":["ATP6V0A2","C1R","CSTA","FGFR2","FGFR3","LZTR1","MRAS","PLOD1","RIT1","TBL1XR1","TGM5","ZNF469"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BILATERAL_MICROPHTHALMOS":{"collection":"C5:HPO","systematicName":"M37102","pmid":"","exactSource":"HP:0007633","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007633","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BILATERAL_MICROPHTHALMOS","geneSymbols":["AARS1","CAPN15","CARS1","ERCC1","ERCC2","ERCC3","FAM111A","FIG4","FRAS1","GDF3","GDF6","GTF2E2","GTF2H5","MED13L","MPLKIP","PAX6","PTCH1","PUF60","RNF113A","RTTN","SHH","STRA6","TARS1","TCOF1","VAC14"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DYSCHROMATOPSIA":{"collection":"C5:HPO","systematicName":"M37103","pmid":"","exactSource":"HP:0007641","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007641","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DYSCHROMATOPSIA","geneSymbols":["ACO2","AFG3L2","BEST1","C1QTNF5","CEP78","CNGB3","DNM1L","FGF14","GRK1","GUCA1A","GUCY2D","IMPG1","MFSD8","MORC2","MTRFR","NR2E3","OPA1","OPA3","OPN1LW","OPN1MW","OPN1SW","PDE6C","PDE6H","POC1B","POLG","PROM1","PRPH2","RBP4","SAG","TK2","TMEM126A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CONGENITAL_STATIONARY_NIGHT_BLINDNESS":{"collection":"C5:HPO","systematicName":"M37104","pmid":"","exactSource":"HP:0007642","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007642","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONGENITAL_STATIONARY_NIGHT_BLINDNESS","geneSymbols":["CABP4","CACNA1F","CACNA2D4","FGFR2","GNAT1","GNB3","GPR179","GRK1","GRM6","LRIT3","MYO6","NYX","PDE6B","PRPH2","RDH5","RHO","RLBP1","SAG","SLC24A1","TRAPPC9","TRPM1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PUNCTATE_CATARACT":{"collection":"C5:HPO","systematicName":"M37105","pmid":"","exactSource":"HP:0007648","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007648","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PUNCTATE_CATARACT","geneSymbols":["BEST1","CRYBB1","CRYBB2","CRYGC","FTL","GJA5","GJA8","HSF4","LIM2","MAF","OPA3","RTN4IP1","SEC23A","VIM"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ECTROPION_OF_LOWER_EYELIDS":{"collection":"C5:HPO","systematicName":"M43338","pmid":"","exactSource":"HP:0007651","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007651","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ECTROPION_OF_LOWER_EYELIDS","geneSymbols":["ADNP","CDH1","CTNND1","DHODH","DLX4","MEGF8","RNF2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_EVERSION_OF_LATERAL_THIRD_OF_LOWER_EYELIDS":{"collection":"C5:HPO","systematicName":"M41355","pmid":"","exactSource":"HP:0007655","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007655","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EVERSION_OF_LATERAL_THIRD_OF_LOWER_EYELIDS","geneSymbols":["CDC42","GRIA3","HNRNPK","KDM6A","KMT2A","KMT2D"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_CHORIORETINAL_PIGMENTATION":{"collection":"C5:HPO","systematicName":"M37106","pmid":"","exactSource":"HP:0007661","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007661","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_CHORIORETINAL_PIGMENTATION","geneSymbols":["BEST1","DCT","IFNG","MAGEL2","MICOS13","OAT","PAX6","SIM1","SLC25A15","TSC1","TSC2","VPS33A","WT1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_REDUCED_VISUAL_ACUITY":{"collection":"C5:HPO","systematicName":"M37107","pmid":"","exactSource":"HP:0007663","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007663","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_VISUAL_ACUITY","geneSymbols":["ABCA4","ABCC6","ABCD1","ACO2","ACTB","ACVRL1","ADAMTS10","ADAMTSL4","ADNP","AFF4","AFG3L2","AGBL1","AGBL5","AHI1","AHR","AIP","AIPL1","AIRE","AKT1","ALDH3A2","ALG3","ALMS1","ANKRD55","AP1G1","AP1S2","AP3B1","AP4B1","AP4E1","AP4M1","AP4S1","APC","ARHGEF18","ARHGEF2","ARL2","ARL2BP","ARL3","ARL6","ARMC9","ARNT2","ARSA","ASNS","ASPA","ASPH","ATF6","ATIC","ATOH7","ATP1A3","ATP5F1A","ATP5F1D","ATP5F1E","ATP5MK","ATPAF1","ATPAF2","ATRX","ATXN7","B3GALNT2","B3GAT3","B4GAT1","BAP1","BBS1","BBS2","BBS5","BCOR","BEST1","BLOC1S3","BLOC1S5","BMP4","BRAF","BTNL2","C1QBP","C1QTNF5","C4A","CA4","CABP4","CACNA1F","CACNA2D4","CAPN5","CBS","CC2D2A","CCDC28B","CCR1","CD109","CD247","CDC42","CDC42BPB","CDH23","CDH3","CDHR1","CEP164","CEP250","CEP290","CERKL","CFAP410","CFAP418","CHN1","CHP1","CHRDL1","CHST3","CHST6","CLCC1","CLCN6","CLCN7","CLEC3B","CLN3","CLRN1","CNGA1","CNGA3","CNGB1","CNGB3","COL11A1","COL25A1","COL2A1","COL4A1","COL8A2","COL9A1","COL9A2","COL9A3","COX7B","CRB1","CREBBP","CRLS1","CRX","CRYAA","CRYBB1","CRYGC","CTC1","CTNNA1","CTNNB1","CTNS","CYP4V2","DCT","DHDDS","DHX37","DHX38","DLD","DNAJC30","DNM1L","DNMBP","DPP6","DRAM2","DTNBP1","DYRK1A","EBP","EIF2B1","ELN","ELOVL1","ELOVL4","ELP4","ENG","EPRS1","ERAP1","ERCC4","ERF","EYS","FAM161A","FAS","FBN1","FBN2","FDXR","FGFR2","FGFR3","FKRP","FKTN","FLNA","FLVCR1","FOXE3","FOXL2","FOXRED1","FRAS1","FREM2","FRMD7","FSCN2","FXN","FZD4","GALC","GATA1","GDF2","GDF6","GJB2","GLB1","GM2A","GMPPB","GNAQ","GNAS","GNAT1","GNAT2","GNB3","GP1BA","GP1BB","GPR143","GPR179","GRHL2","GRIP1","GRK1","GRM6","GUCA1A","GUCA1B","GUCY2D","H1-4","H4C3","H4C9","HCCS","HDAC4","HEXA","HEXB","HGSNAT","HK1","HLA-B","HLA-DRB1","HMX1","HPS1","HPS3","HPS4","HPS5","HPS6","HSD17B10","IDH3A","IDH3B","IFNGR1","IFT140","IFT172","IFT43","IFT88","IL10","IL12A","IL12A-AS1","IL23R","IL2RA","IL2RB","IMPDH1","IMPG1","IMPG2","INPP5E","IQCB1","ITGA2","ITGA2B","ITGB3","ITM2B","KAT6A","KCNJ13","KCNN2","KCNV2","KERA","KIAA1549","KIDINS220","KIF11","KIF14","KIF1C","KIF21A","KIZ","KLHL7","KLRC4","KMT2D","KRT12","LAMA1","LAMB2","LARGE1","LCA5","LIM2","LMBRD2","LONP1","LRAT","LRIT3","LRMDA","LRP5","LRPAP1","LYST","MAFB","MAG","MAK","MAP3K7","MAPKAPK3","MARK3","MC1R","MECR","MED12","MED25","MEFV","MEN1","MERTK","MFRP","MFSD8","MICU1","MIR184","MIR204","MLXIPL","MMACHC","MMP19","MT-ATP6","MT-ATP8","MT-ND1","MT-ND2","MT-ND3","MTFMT","MTR","MTRFR","MTRR","MTTP","NAA10","NBAS","NDE1","NDP","NDUFA1","NDUFA11","NDUFA6","NDUFAF1","NDUFAF2","NDUFAF3","NDUFAF4","NDUFAF5","NDUFAF8","NDUFB10","NDUFB11","NDUFB3","NDUFB9","NDUFS1","NDUFS2","NDUFS3","NDUFS4","NDUFS6","NDUFS7","NDUFS8","NDUFV1","NDUFV2","NEK2","NF1","NF2","NFIX","NHS","NLRP3","NMNAT1","NOG","NPHP4","NR2E3","NR2F1","NRL","NSMCE2","NUBPL","NYX","OAT","OCA2","OCRL","OFD1","OGT","OPA1","OPA3","OPN1LW","OPN1MW","OPN1SW","OSTM1","OVOL2","P3H2","P4HTM","PANK2","PANK4","PAX2","PAX6","PCARE","PCYT1A","PCYT2","PDE6A","PDE6B","PDE6C","PDE6G","PDE6H","PDGFB","PDHA1","PDXK","PDZD8","PEX6","PEX7","PGK1","PHOX2A","PI4KA","PIGN","PIK3CA","PIK3R2","PITPNM3","PITX2","PITX3","PLA2G6","PLG","PLOD1","PNPT1","POC1B","POGZ","POLG","POLR3GL","POMGNT1","POMK","POMT1","POMT2","PORCN","POU3F4","PPT1","PQBP1","PRCD","PRDX1","PRIMPOL","PROM1","PROS1","PRPF3","PRPF31","PRPF4","PRPF6","PRPF8","PRPH2","PRPS1","PRR12","PRSS56","PSAP","PTPN2","PTPN22","PUF60","PXDN","RAB28","RAC1","RAX2","RBP3","RBP4","RCBTB1","RD3","RDH12","REEP6","RFT1","RGR","RGS9BP","RHO","RHOA","RIC1","RIMS2","RLBP1","RNASEH1","RNU12","ROM1","RORA","RP1","RP1L1","RP2","RP9","RPE65","RPGR","RPGRIP1","RRAS2","RTN4IP1","SAG","SALL2","SALL4","SARDH","SCAPER","SCN1A","SCN8A","SCYL1","SDCCAG8","SDHA","SDHAF1","SDHB","SDHD","SELENOI","SEMA4A","SEPSECS","SF3B2","SH3BP2","SLC1A3","SLC24A1","SLC24A5","SLC38A8","SLC39A14","SLC45A2","SLC4A11","SLC4A2","SLC7A14","SMAD4","SMARCB1","SMARCE1","SMCHD1","SMO","SNRNP200","SOBP","SPATA7","SREBF1","SSBP1","STAT4","STX3","SUFU","TACSTD2","TANGO2","TASP1","TBC1D24","TBC1D2B","TBX1","TCF4","TCIRG1","TENM3","TERT","TFE3","TGFBI","TIMM8A","TIMMDC1","TIMP3","TLCD3B","TLR4","TMEM126A","TMEM126B","TMEM138","TMEM216","TMEM231","TMEM237","TMEM67","TMEM98","TNFSF11","TOPORS","TRAF7","TRIM44","TRIO","TRPM1","TSEN15","TSEN2","TSEN34","TSEN54","TSPAN12","TTC8","TTLL5","TUB","TUBA1A","TUBA3D","TUBB2B","TUBB3","TUBB4B","TUBGCP4","TULP1","TWIST1","TYR","UBAC2","UCHL1","UFC1","UFM1","UNC119","UROD","UROS","USH2A","USP45","VPS11","VPS13B","VSX1","WAC","WARS2","WASF1","WDR19","WDR26","WDR45","WFS1","XRCC4","XYLT1","XYLT2","YME1L1","ZEB1","ZFHX4","ZFYVE26","ZMIZ1","ZNF408","ZNF423","ZNF513"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CURLY_EYELASHES":{"collection":"C5:HPO","systematicName":"M37108","pmid":"","exactSource":"HP:0007665","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007665","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CURLY_EYELASHES","geneSymbols":["ABCC9","BRD4","DVL1","DVL3","FZD2","HDAC8","KCNJ8","NIPBL","RAD21","SMARCA2","SMC1A","SMC3","ST14","STAG2","WNT5A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_VESTIBULO_OCULAR_REFLEX":{"collection":"C5:HPO","systematicName":"M37109","pmid":"","exactSource":"HP:0007670","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007670","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_VESTIBULO_OCULAR_REFLEX","geneSymbols":["CACNA1A","CLIC5","ESPN","FGF14","FXN","KARS1","RFC1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PROGRESSIVE_NIGHT_BLINDNESS":{"collection":"C5:HPO","systematicName":"M37110","pmid":"","exactSource":"HP:0007675","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007675","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROGRESSIVE_NIGHT_BLINDNESS","geneSymbols":["ABCA4","AGBL5","AHI1","AHR","ARHGEF18","ARL2BP","ARL3","ARL6","BBS1","BBS2","BEST1","CA4","CC2D2A","CDHR1","CERKL","CFAP418","CLRN1","CNGA1","CNGB1","CRB1","CRX","CYP4V2","DHDDS","DHX38","EYS","FAM161A","FSCN2","GUCA1B","GUCY2D","HGSNAT","IDH3A","IDH3B","IFT140","IFT172","IFT88","IMPDH1","IMPG1","IMPG2","INPP5E","KIAA1549","KIZ","KLHL7","LRAT","MAK","MERTK","NEK2","NR2E3","NRL","OAT","OFD1","PCARE","PDE6A","PDE6B","PDE6G","POMGNT1","POU3F4","PRCD","PROM1","PRPF3","PRPF31","PRPF4","PRPF6","PRPF8","PRPH2","RBP3","RDH11","RDH12","RDH5","REEP6","RGR","RHO","RLBP1","ROM1","RP1","RP1L1","RP2","RP9","RPE65","RPGR","SAG","SCAPER","SEMA4A","SLC7A14","SNRNP200","SPATA7","TOPORS","TTC8","TUB","TULP1","USH2A","ZNF408","ZNF513"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPOPLASIA_OF_THE_IRIS":{"collection":"C5:HPO","systematicName":"M37111","pmid":"","exactSource":"HP:0007676","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007676","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASIA_OF_THE_IRIS","geneSymbols":["ADAMTSL1","CHN1","COL4A1","CPAMD8","CPLX1","CTBP1","ERCC6","FBN1","FGFR1","FGFRL1","FOXC1","HHAT","HS2ST1","IGF1R","ITPR1","LAMB2","LETM1","LRP2","MAFB","MIR184","MITF","NDP","NSD2","PAX3","PAX6","PIK3R1","PITX2","PORCN","SALL4","SOX10","STIM1","VSX1","WDR73","WT1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LACRIMAL_DUCT_STENOSIS":{"collection":"C5:HPO","systematicName":"M37112","pmid":"","exactSource":"HP:0007678","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007678","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LACRIMAL_DUCT_STENOSIS","geneSymbols":["CD151","EYA1","KAT6A","KNSTRN","MED12","PAX1","PIK3CD","PPP1CB","PTDSS1","SIX1","SPRED2","TCOF1","TET3","TP63","YY1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PERIPHERAL_RETINAL_AVASCULARIZATION":{"collection":"C5:HPO","systematicName":"M41356","pmid":"","exactSource":"HP:0007685","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007685","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERIPHERAL_RETINAL_AVASCULARIZATION","geneSymbols":["CTNNB1","DLK1","FZD4","LRP5","MEG3","NDP","RTL1","TSPAN12","ZNF408"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_PUPILLARY_FUNCTION":{"collection":"C5:HPO","systematicName":"M37113","pmid":"","exactSource":"HP:0007686","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007686","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PUPILLARY_FUNCTION","geneSymbols":["ACTA2","AIMP1","ATF6","ATP1A2","ATP1A3","BAP1","CACNA1A","CHRDL1","CHRM3","CHRNA3","CNGA3","CNGB3","COL18A1","COL25A1","COLQ","CYSLTR2","DDC","DNMBP","ERCC6","GALC","GNA11","GNAQ","GNAT2","GNB2","HHAT","KIF1B","KIF21A","LAMB2","LCA5","LOXL1","LRAT","MPZ","MYH11","MYL9","NOTCH2NLC","ORAI1","OSTM1","PDE6C","PDE6H","PEX10","PEX7","PHOX2A","PHYH","PMP22","PRNP","PRORP","PRPS1","PSAP","RAB18","RPE65","RPGR","SF3B1","SH3TC2","SIX6","SLC1A3","SPATA7","STIM1","TMEM53","TUBA1A","TUBB2B","TUBB3","TULP1","ZFHX4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_UNILATERAL_PTOSIS":{"collection":"C5:HPO","systematicName":"M43339","pmid":"","exactSource":"HP:0007687","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007687","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UNILATERAL_PTOSIS","geneSymbols":["ANAPC7","CAPN15","COL25A1","DDX59","GPC4","HEATR3","HOXB1","MED12L","MID2","PUF60","SMC1A","SMS","WDR35","ZFHX4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_UNDETECTABLE_LIGHT_AND_DARK_ADAPTED_ELECTRORETINOGRAM":{"collection":"C5:HPO","systematicName":"M37114","pmid":"","exactSource":"HP:0007688","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007688","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UNDETECTABLE_LIGHT_AND_DARK_ADAPTED_ELECTRORETINOGRAM","geneSymbols":["ADAR","AIPL1","CERKL","CLRN1","IMPDH1","MT-ATP6","NR2E3","NUP54","NUP62","PCYT1A","RP1","RP9","RPE65","RPGRIP1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_PUPILLARY_LIGHT_REFLEX":{"collection":"C5:HPO","systematicName":"M37115","pmid":"","exactSource":"HP:0007695","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007695","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PUPILLARY_LIGHT_REFLEX","geneSymbols":["AIMP1","ATF6","CHRM3","CHRNA3","CNGA3","CNGB3","COL18A1","COL25A1","COLQ","GALC","GNAT2","KIF21A","LAMB2","LCA5","LRAT","MPZ","PDE6C","PDE6H","PHOX2A","PMP22","PRPS1","PSAP","RPE65","RPGR","SH3TC2","SPATA7","TUBA1A","TUBB2B","TUBB3","TULP1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_OCULAR_ANTERIOR_SEGMENT_DYSGENESIS":{"collection":"C5:HPO","systematicName":"M37116","pmid":"","exactSource":"HP:0007700","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007700","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OCULAR_ANTERIOR_SEGMENT_DYSGENESIS","geneSymbols":["AARS1","ABCA2","ADA2","ADAMTS10","ADAMTSL1","ADAR","AGK","AKT1","ALDH18A1","ANAPC1","ARPC4","ATAD3A","ATOH7","B3GAT3","B3GLCT","B9D1","B9D2","BAZ1B","BCL7B","BCOR","BDNF","BEST1","BFSP2","BRCA1","BRCA2","BRIP1","BTRC","BUD23","CANT1","CARS1","CAV1","CC2D2A","CDH2","CENPF","CEP290","CHN1","CHST3","CLIP2","COL18A1","COL2A1","COL4A1","COL4A5","COX7B","CPAMD8","CPLX1","CRPPA","CRYAA","CRYAB","CRYBA1","CRYBA2","CRYBB1","CRYBB2","CRYBB3","CRYGB","CRYGC","CRYGD","CSPP1","CTBP1","CTDP1","CYP1B1","DAG1","DIS3L2","DLST","DLX5","DLX6","DNAJC30","DOCK6","DPAGT1","EHMT1","EIF4H","ELN","ELP4","ENTPD1","EPG5","EPHA2","EPS15L1","ERCC1","ERCC2","ERCC3","ERCC4","ERCC6","ERCC8","ETFA","ETFB","ETFDH","FAM111A","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FAR1","FBLN5","FBN1","FBXW11","FBXW4","FGF3","FGFR1","FGFR2","FGFRL1","FH","FKBP6","FKRP","FKTN","FLNA","FOXC1","FOXE3","FUT8","FZD4","GATA1","GCNT2","GFAP","GFER","GLIS3","GNAQ","GPC3","GTF2E2","GTF2H5","GTF2I","GTF2IRD1","GTF2IRD2","H19","HCCS","HEATR3","HHAT","HMX1","HS2ST1","HSPG2","HYCC1","IARS2","IDH1","IFIH1","IGF1R","ITPR1","JAG1","KANSL1","KCNA4","KCTD1","KIF1B","KMT2C","LAMB2","LARGE1","LDHD","LETM1","LIMK1","LMNA","LMX1B","LONP1","LRP2","LSM11","LSS","LTBP2","MAB21L1","MAD2L2","MAF","MAFA","MAFB","MAX","MDH2","MED13L","MED25","METTL27","MIR184","MIR204","MITF","MKS1","MLXIPL","MPLKIP","MSMO1","MT-CO1","MT-CO2","MT-CO3","MT-CYB","MT-ND1","MT-ND5","MT-ND6","MT-TC","MT-TF","MT-TK","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TV","MT-TW","NCAPG2","NCF1","NDP","NDUFB11","NEU1","NF1","NHS","NSD2","NUP188","OCRL","PALB2","PAX3","PAX6","PEX11B","PEX5","PEX7","PHGDH","PIEZO2","PIGY","PIK3C2A","PIK3R1","PITX2","PITX3","PNPT1","POMGNT1","POMT1","POMT2","PORCN","POU6F2","PRDM5","PRR12","PSMC3","PTEN","PXDN","PYCR1","RAB18","RAB3GAP1","RAB3GAP2","RAD51","RAD51C","RBP4","RECQL4","RERE","REST","RET","RFC2","RFWD3","RIC1","RNASEH2A","RNASEH2B","RNASEH2C","RNF113A","RNU7-1","RPGRIP1","RPGRIP1L","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS7","SALL4","SAMHD1","SBF2","SDHA","SDHAF2","SDHB","SDHC","SDHD","SEC31A","SEM1","SH3PXD2B","SIL1","SIPA1L3","SIX6","SLC25A11","SLC2A10","SLC33A1","SLC38A8","SLX4","SMC5","SOX10","SRY","STIM1","STX1A","TARS1","TBC1D20","TBL2","TCTN1","TCTN2","TCTN3","TEK","TELO2","TENM3","TKT","TMEM107","TMEM127","TMEM216","TMEM231","TMEM237","TMEM270","TMEM67","TONSL","TP63","TREX1","TRIM28","TRIM44","TRIP13","TSR2","TWIST1","TXNDC15","UBE2A","UBE2T","VHL","VPS37D","VPS4A","VSX1","WDR37","WDR73","WNT10B","WT1","XRCC2","XYLT2","ZEB2","ZNF469"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_RETINAL_PIGMENTATION":{"collection":"C5:HPO","systematicName":"M37117","pmid":"","exactSource":"HP:0007703","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007703","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_RETINAL_PIGMENTATION","geneSymbols":["ABCA4","ACOX1","ADAM9","AGBL5","AHI1","AHR","AIPL1","AIRE","AKT1","ALDH1A3","ALDH3A2","ALDH6A1","ALMS1","AMACR","APC","ARHGEF18","ARL13B","ARL2BP","ARL3","ARL6","ARSG","ATF6","ATXN7","BBIP1","BBS1","BBS10","BBS12","BBS2","BBS4","BBS5","BBS7","BBS9","BEST1","CA4","CABP4","CACNA1F","CACNA2D4","CAV1","CBS","CC2D2A","CCDC28B","CDH3","CDHR1","CEP120","CEP164","CEP19","CEP290","CERKL","CFAP410","CFAP418","CFH","CFI","CHM","CLCC1","CLCN3","CLDN19","CLN3","CLRN1","CNGA1","CNGA3","CNGB1","CNGB3","CNNM4","COA8","COX7B","COX8A","CP","CRB1","CRX","CTNNB1","CTNS","CYP4V2","DHDDS","DHX16","DHX38","DRAM2","DYNC2H1","DYNC2I1","DYNC2I2","DYNC2LI1","EDN3","EDNRB","EFEMP1","ELMO2","ELOVL4","EPG5","ERCC1","ERCC2","ERCC3","ERCC4","ERCC5","ERCC6","ERCC8","EYS","FAM161A","FKRP","FLCN","FLNB","FLVCR1","FSCN2","GDF6","GMPPB","GNAT1","GNAT2","GNB3","GPR179","GRK1","GRM6","GSS","GUCA1A","GUCA1B","GUCY2D","HADH","HADHA","HADHB","HCCS","HGSNAT","HK1","HKDC1","IDH3A","IDH3B","IDS","IFT140","IFT172","IFT27","IFT43","IFT52","IFT74","IFT80","IFT88","IMPDH1","IMPG1","IMPG2","INVS","IQCB1","ISCA1","JAG1","KCNJ13","KIAA0753","KIAA1549","KIF11","KIZ","KLHL7","LARGE1","LCA5","LMNA","LRAT","LRIT3","LYST","LZTFL1","MAK","MC1R","MCOLN1","MECR","MED12","MERTK","MFRP","MFSD8","MITF","MKKS","MKS1","MMACHC","MORC2","MSTO1","MT-ATP6","MT-ATP8","MT-CO1","MT-CO2","MT-CO3","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND5","MT-ND6","MT-TF","MT-TH","MT-TK","MT-TL1","MT-TN","MT-TQ","MT-TS1","MT-TS2","MT-TV","MT-TW","MTTP","NBN","NCAPG2","NDUFAF1","NDUFB11","NEK2","NGLY1","NMNAT1","NOTCH2NLC","NPHP1","NPHP3","NPHP4","NR2E3","NRL","NYX","OCA2","OFD1","OPN1LW","OPN1MW","OTX2","PANK2","PAX6","PCARE","PCYT1A","PDE6A","PDE6B","PDE6C","PDE6G","PDE6H","PEPD","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PEX7","PHYH","PIEZO2","PISD","PITPNM3","PLK4","PNPLA6","POC1B","POLG","POLR3A","POMGNT1","POMT1","POMT2","PRCD","PRDX1","PROM1","PRPF3","PRPF31","PRPF4","PRPF6","PRPF8","PRPH2","PRSS56","PTEN","PUS1","RAB18","RAB28","RAB3GAP1","RAB3GAP2","RAX","RAX2","RBP3","RD3","RDH11","RDH12","RDH5","REEP6","RGR","RHO","RIMS1","RLBP1","RMRP","RNASEH1","RNF216","RNU4ATAC","ROM1","RP1","RP1L1","RP2","RP9","RPE65","RPGR","RPGRIP1","RPS6KA3","RRM2B","SAG","SCAPER","SCLT1","SDCCAG8","SDHA","SDHAF1","SDHB","SDHD","SELENOI","SEMA4A","SIX6","SLC12A6","SLC24A1","SLC45A2","SLC6A6","SLC7A14","SNRNP200","SOX10","SOX2","SPATA7","SUMF1","SURF1","TAF2","TBC1D20","TIMP3","TLCD3B","TMEM98","TNFRSF11A","TNFRSF11B","TOPORS","TRAF3IP1","TRIM32","TRIM37","TRPM1","TTC21B","TTC8","TTLL5","TTPA","TUB","TUBB4B","TUBGCP4","TUBGCP6","TULP1","TWNK","TYR","UNC119","USH2A","USP45","VPS13B","VPS33A","VPS41","WDPCP","WDR19","WFS1","WRN","ZFYVE26","ZNF408","ZNF513"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PAROXYSMAL_INVOLUNTARY_EYE_MOVEMENTS":{"collection":"C5:HPO","systematicName":"M37118","pmid":"","exactSource":"HP:0007704","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007704","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PAROXYSMAL_INVOLUNTARY_EYE_MOVEMENTS","geneSymbols":["ABCA4","CNGB3","ELOVL4","FOXRED1","MT-ND1","MT-ND2","MT-ND3","NDUFA1","NDUFA11","NDUFA6","NDUFAF1","NDUFAF2","NDUFAF3","NDUFAF4","NDUFAF5","NDUFAF8","NDUFB10","NDUFB11","NDUFB3","NDUFB9","NDUFS1","NDUFS2","NDUFS3","NDUFS4","NDUFS6","NDUFS7","NDUFS8","NDUFV1","NDUFV2","NKX6-2","NUBPL","PROM1","PRPH2","PSAT1","SLC2A1","SLC35A2","TIMMDC1","TMEM126B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_WEAK_EXTRAOCULAR_MUSCLES":{"collection":"C5:HPO","systematicName":"M47123","pmid":"","exactSource":"HP:0007715","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007715","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WEAK_EXTRAOCULAR_MUSCLES","geneSymbols":["ACTN2","AKT1","BAP1","NF2","PDGFB","PIK3CA","SMARCB1","SMARCE1","SMO","SUFU","TERT","TRAF7"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_UVEAL_MELANOMA":{"collection":"C5:HPO","systematicName":"M37119","pmid":"","exactSource":"HP:0007716","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007716","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UVEAL_MELANOMA","geneSymbols":["BAP1","BRAF","CYSLTR2","GNA11","GNAQ","MBD4","SF3B1","STK11"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FLAT_CORNEA":{"collection":"C5:HPO","systematicName":"M37120","pmid":"","exactSource":"HP:0007720","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007720","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FLAT_CORNEA","geneSymbols":["BAZ1B","BCL7B","BUD23","CLIP2","DNAJC30","EIF4H","ELN","FKBP6","GTF2I","GTF2IRD1","GTF2IRD2","KERA","LIMK1","MARK3","METTL27","MLXIPL","NCF1","PRDM5","RFC2","STX1A","TBL2","TGFB2","TMEM270","VPS37D"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RETINAL_PIGMENT_EPITHELIAL_ATROPHY":{"collection":"C5:HPO","systematicName":"M37121","pmid":"","exactSource":"HP:0007722","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007722","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETINAL_PIGMENT_EPITHELIAL_ATROPHY","geneSymbols":["ABCA4","ALDH3A2","ALMS1","ATF6","BEST1","C1QTNF5","CDHR1","CNGA3","CNGB3","CRX","CYP4V2","ELOVL4","GNAT2","IDH3A","IFT43","IMPG2","KIAA1549","LCA5","LRAT","MFRP","OFD1","PDE6C","PDE6H","PROM1","PRPF6","PRPH2","RDH11","RLBP1","RPE65","RPGR","RS1","SNRNP200","SPATA7","TIMP3","TLCD3B","TOPORS","TRNT1","TUB","VCAN","ZNF408"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_IRIS_HYPOPIGMENTATION":{"collection":"C5:HPO","systematicName":"M37122","pmid":"","exactSource":"HP:0007730","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007730","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IRIS_HYPOPIGMENTATION","geneSymbols":["ADGRV1","AP3B1","AP3D1","ARSG","ATP10A","BEST1","BLOC1S3","BLOC1S5","BLOC1S6","CASZ1","CDH23","CEP78","CIB2","CLRN1","DTNBP1","EPG5","ESPN","GABRD","GPR143","HARS1","HERC2","HPS1","HPS4","HPS5","HPS6","HSPG2","IMPG1","IMPG2","KANSL1","KCNAB2","LUZP1","LYST","MAGEL2","MC1R","MKRN3","MLPH","MMP23B","MT-TS2","MYO5A","MYO7A","NDN","NPAP1","OCA2","PCDH15","PDPN","PDZD7","PITX2","PRDM16","PRKCZ","PRPH2","PWAR1","PWRN1","RAB27A","RERE","SKI","SLC45A2","SNORD115-1","SNORD116-1","SNRPN","SOX10","SPEN","TYR","TYRP1","UBE3A","UBE4B","USH1C","USH1G","USH2A","WHRN","XYLT2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CHORIORETINAL_DYSPLASIA":{"collection":"C5:HPO","systematicName":"M37123","pmid":"","exactSource":"HP:0007731","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007731","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHORIORETINAL_DYSPLASIA","geneSymbols":["B3GALNT2","B4GAT1","COL4A1","COX7B","CRPPA","DAG1","FKRP","FKTN","HCCS","KIF11","LARGE1","NDUFB11","OCRL","POMGNT1","POMGNT2","POMK","POMT1","POMT2","RXYLT1","TUBGCP4","TUBGCP6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BONE_SPICULE_PIGMENTATION_OF_THE_RETINA":{"collection":"C5:HPO","systematicName":"M37124","pmid":"","exactSource":"HP:0007737","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007737","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BONE_SPICULE_PIGMENTATION_OF_THE_RETINA","geneSymbols":["ABCA4","AGBL5","ARL3","ARL6","ARSG","BBS1","BBS9","CCDC28B","CFAP410","CFAP418","CHM","CLCC1","CLRN1","CNGA1","CNGB1","CNNM4","CRB1","CRX","DHX38","EYS","FAM161A","FLVCR1","FSCN2","GRM6","GUCY2D","HGSNAT","HK1","IDH3A","IFT140","IFT43","IMPDH1","IMPG2","KIAA1549","LCA5","LRAT","LZTFL1","MAK","MFRP","MKS1","NMNAT1","NRL","PCARE","PDE6A","PDE6B","PDE6G","PISD","POC1B","POMGNT1","PRCD","PROM1","PRPF31","PRPF6","PRPF8","RAX2","RBP3","RDH11","RDH12","REEP6","RHO","RLBP1","RP1","RP1L1","RP9","RPE65","RPGR","RRM2B","SAG","SCAPER","SEMA4A","SLC7A14","SNRNP200","SPATA7","TTC8","TULP1","USH2A","VPS13B","ZNF408","ZNF513"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_UNCONTROLLED_EYE_MOVEMENTS":{"collection":"C5:HPO","systematicName":"M37125","pmid":"","exactSource":"HP:0007738","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007738","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UNCONTROLLED_EYE_MOVEMENTS","geneSymbols":["ADORA2A","CACNA1H","GABRA1","GABRB3","GABRG2","JRK","POMGNT1","SLC2A1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MACULAR_DYSTROPHY":{"collection":"C5:HPO","systematicName":"M37127","pmid":"","exactSource":"HP:0007754","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007754","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MACULAR_DYSTROPHY","geneSymbols":["BBS5","BEST1","CCNQ","CDH3","CFH","CFI","CHST6","EFEMP1","ELOVL4","IMPG1","IMPG2","MFSD8","MT-TE","MT-TK","MT-TL1","MYO5A","PEX1","PROM1","PRPH2","RP1L1","SYCE1","TIMP3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RETINAL_TELANGIECTASIA":{"collection":"C5:HPO","systematicName":"M37128","pmid":"","exactSource":"HP:0007763","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007763","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETINAL_TELANGIECTASIA","geneSymbols":["ACVRL1","CTC1","CTNNB1","DNAJC30","ENG","FRG1","FZD4","GDF2","LRP5","MT-ATP6","MT-CO1","MT-CO3","MT-CYB","MT-ND1","MT-ND2","MT-ND4","MT-ND4L","MT-ND5","MT-ND6","NDP","NDUFS2","PCNA","SETD2","SMAD4","STN1","TSPAN12","ZNF408"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_OPTIC_DISC_HYPOPLASIA":{"collection":"C5:HPO","systematicName":"M37129","pmid":"","exactSource":"HP:0007766","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007766","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OPTIC_DISC_HYPOPLASIA","geneSymbols":["APC","ARSL","CHN1","DDHD2","EXOC2","FANCB","GDF3","GDF6","HESX1","HNRNPU","MAFB","NFIX","NR2F1","PLXNA1","POLR3A","SALL4","SNAP29","SRD5A3","TRIT1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CENTRAL_RETINAL_VESSEL_VASCULAR_TORTUOSITY":{"collection":"C5:HPO","systematicName":"M47124","pmid":"","exactSource":"HP:0007768","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007768","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CENTRAL_RETINAL_VESSEL_VASCULAR_TORTUOSITY","geneSymbols":["DNAJC30","MT-ATP6","MT-CO3","MT-CYB","MT-ND1","MT-ND2","MT-ND4","MT-ND4L","MT-ND5","MT-ND6","NEK1","SELENOI"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PERIPHERAL_RETINAL_DEGENERATION":{"collection":"C5:HPO","systematicName":"M43341","pmid":"","exactSource":"HP:0007769","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007769","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERIPHERAL_RETINAL_DEGENERATION","geneSymbols":["CFH","CFI","COL2A1","EFEMP1","KCNJ13","P3H2","POU3F4","RS1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_IMPAIRED_SMOOTH_PURSUIT":{"collection":"C5:HPO","systematicName":"M37130","pmid":"","exactSource":"HP:0007772","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007772","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRED_SMOOTH_PURSUIT","geneSymbols":["ATXN1","ATXN10","ATXN2","ATXN3","ATXN8OS","CACNA1A","DPM2","EEF2","ELOVL4","FGF14","FTL","GNB1","INPP5E","ITPR1","KCND3","KCNN2","MAN2B1","MRE11","NOP56","PAFAH1B1","PDHB","PEX10","PLA2G6","POLR3B","PRNP","RARS1","RFC1","SACS","SPTBN2","STT3A","STXBP1","SYNE1","SYT14","TBCD","THG1L","TMEM216","TSEN54","TULP1","WARS2","XRCC4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_VITREORETINOPATHY":{"collection":"C5:HPO","systematicName":"M37131","pmid":"","exactSource":"HP:0007773","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007773","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VITREORETINOPATHY","geneSymbols":["BAP1","CAPN5","COL11A1","COL11A2","COL18A1","COL2A1","COL9A1","COL9A2","COL9A3","CRB1","CTNNB1","ERBB3","FZD4","KCNJ13","LRP5","NDP","NR2E3","P3H2","PAK2","TSPAN12","VCAN","ZNF408"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_POSTERIOR_SUBCAPSULAR_CATARACT":{"collection":"C5:HPO","systematicName":"M37132","pmid":"","exactSource":"HP:0007787","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007787","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POSTERIOR_SUBCAPSULAR_CATARACT","geneSymbols":["ADAMTS18","ALMS1","ARL2BP","ARL3","CFAP410","CHMP4B","CNBP","EYS","GJA8","IDH3B","IMPDH1","IMPG2","LCA5","LRAT","NF2","NR2E3","OAT","OFD1","OPA3","PDE6A","POLR3GL","PRPF6","RBP3","REEP6","RPE65","SCAPER","SPATA7","SPRTN","TONSL","TULP1","UNC45B","XYLT2","ZNF408"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_GRANULAR_MACULAR_APPEARANCE":{"collection":"C5:HPO","systematicName":"M43342","pmid":"","exactSource":"HP:0007793","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007793","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GRANULAR_MACULAR_APPEARANCE","geneSymbols":["CFH","CFI","CHM","EFEMP1","LCA5","LRAT","PROM1","RPE65","SPATA7"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MONOCHROMACY":{"collection":"C5:HPO","systematicName":"M37134","pmid":"","exactSource":"HP:0007803","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007803","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MONOCHROMACY","geneSymbols":["ATF6","CNGA3","CNGB3","CNNM4","GNAT2","NBAS","OPN1LW","OPN1MW","PDE6C","PDE6H","RPGR"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_OPTIC_NERVE_COMPRESSION":{"collection":"C5:HPO","systematicName":"M37135","pmid":"","exactSource":"HP:0007807","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007807","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OPTIC_NERVE_COMPRESSION","geneSymbols":["ATRX","BRAF","CA2","CDH23","CLCN7","NR3C1","SNX10","TCIRG1","TGFB1","TMEM53","TNFRSF11A","TNFSF11","TP53","USP48","USP8"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HORIZONTAL_PENDULAR_NYSTAGMUS":{"collection":"C5:HPO","systematicName":"M37136","pmid":"","exactSource":"HP:0007811","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007811","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HORIZONTAL_PENDULAR_NYSTAGMUS","geneSymbols":["ADAR","ARHGEF2","CNGB3","LRP5","MT-ATP6","NUP54","NUP62","TMEM106B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RETINAL_PIGMENT_EPITHELIAL_MOTTLING":{"collection":"C5:HPO","systematicName":"M37137","pmid":"","exactSource":"HP:0007814","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007814","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETINAL_PIGMENT_EPITHELIAL_MOTTLING","geneSymbols":["ABCA4","ALDH6A1","ATF6","CACNA2D4","CFAP410","CFH","CFI","CHM","CLCN3","CNGA3","CNGB3","CNNM4","CTNS","CYP4V2","DHX16","EFEMP1","ELOVL4","ERCC8","GNAT2","GUCA1A","GUCY2D","IFT52","LCA5","LRAT","MT-ATP6","NBN","NMNAT1","PDE6C","PDE6H","PEX1","PISD","PITPNM3","POLG","PROM1","PRPH2","RDH5","RHO","RLBP1","RPE65","RPGR","SELENOI","SLC6A6","SPATA7","TUBB4B","TWNK","VPS41"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CENTRAL_HETEROCHROMIA":{"collection":"C5:HPO","systematicName":"M37138","pmid":"","exactSource":"HP:0007818","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007818","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CENTRAL_HETEROCHROMIA","geneSymbols":["AKT1","CHN1","MAFB","PNPLA6","PTEN","SALL4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_TOTAL_OPHTHALMOPLEGIA":{"collection":"C5:HPO","systematicName":"M47125","pmid":"","exactSource":"HP:0007824","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007824","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TOTAL_OPHTHALMOPLEGIA","geneSymbols":["CDKL5","GABBR2","GRIN1","MECP2","NTNG1","POLG","SMC1A","TMEM67"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ANTERIOR_CHAMBER_SYNECHIAE":{"collection":"C5:HPO","systematicName":"M37139","pmid":"","exactSource":"HP:0007833","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007833","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANTERIOR_CHAMBER_SYNECHIAE","geneSymbols":["ADAMTS17","ANKRD55","ASPH","ATOH7","B3GLCT","CD247","COL18A1","COL8A2","CYP1B1","FOXC1","FOXE3","GRHL2","HMX1","IL2RA","IL2RB","LARGE1","LCA5","LRAT","MIR204","NDP","OVOL2","PAX6","PITX2","PTPN2","PTPN22","PXDN","RPE65","SPATA7","STAT4","VSX1","ZEB1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PROGRESSIVE_PTOSIS":{"collection":"C5:HPO","systematicName":"M47126","pmid":"","exactSource":"HP:0007838","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007838","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROGRESSIVE_PTOSIS","geneSymbols":["GIPC1","LRP12","NOTCH2NLC","PABPN1","RILPL1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ATTENUATION_OF_RETINAL_BLOOD_VESSELS":{"collection":"C5:HPO","systematicName":"M37140","pmid":"","exactSource":"HP:0007843","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007843","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ATTENUATION_OF_RETINAL_BLOOD_VESSELS","geneSymbols":["ABCA4","AGBL5","AIPL1","ARL3","ARL6","ARV1","ATF6","BBS1","BBS9","BEST1","CCDC28B","CDHR1","CERKL","CFAP410","CFAP418","CHM","CLCC1","CLRN1","CNGA1","CNGA3","CNGB3","CNNM4","COL18A1","CRB1","DHX38","ERCC4","EYS","FGF12","FLVCR1","FSCN2","GGCX","GNAT2","GUCY2D","HARS1","HK1","HLA-A","IDH3A","IDH3B","IFT140","IFT172","IFT43","IMPDH1","IMPG2","KIAA1549","LCA5","LRAT","MAK","MKS1","MVK","NMNAT1","NRL","NUS1","OFD1","PCARE","PDE6A","PDE6B","PDE6C","PDE6G","PDE6H","PRCD","PROM1","PRPF4","PRPF6","PRPF8","PRPH2","RAX2","RDH11","RDH12","RDH5","REEP6","RGR","RHO","RLBP1","ROM1","RP1","RP1L1","RPE65","RPGR","RPGRIP1","RTTN","SCAPER","SEMA4A","SLC24A1","SLC6A6","SNRNP200","SPATA7","SSBP1","TLCD3B","TOPORS","TTC8","TUB","TULP1","UNC119","USH2A","USP45","WDR19","ZNF408","ZNF513"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PUNCTATE_OPACIFICATION_OF_THE_CORNEA":{"collection":"C5:HPO","systematicName":"M43343","pmid":"","exactSource":"HP:0007856","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007856","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PUNCTATE_OPACIFICATION_OF_THE_CORNEA","geneSymbols":["CHST6","CYP4V2","KRT12","PSMB8","UBIAD1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CHOROIDAL_HEMANGIOMA":{"collection":"C5:HPO","systematicName":"M47127","pmid":"","exactSource":"HP:0007872","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007872","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHOROIDAL_HEMANGIOMA","geneSymbols":["CCM2","GNAQ","KRIT1","PDCD10","PIK3CA"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CONGENITAL_BLINDNESS":{"collection":"C5:HPO","systematicName":"M37141","pmid":"","exactSource":"HP:0007875","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007875","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONGENITAL_BLINDNESS","geneSymbols":["ATIC","CEP290","LRAT","LRP5","NSMCE2","RD3","SARDH","XRCC4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPOPIGMENTATION_OF_THE_FUNDUS":{"collection":"C5:HPO","systematicName":"M37142","pmid":"","exactSource":"HP:0007894","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007894","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPIGMENTATION_OF_THE_FUNDUS","geneSymbols":["BLOC1S6","CACNA1F","CHM","COL4A1","EDNRB","EPG5","GGCX","GPR143","GUCA1A","GUCY2D","IFNG","KIF7","LAMB2","MC1R","MITF","MTTP","OCA2","PAX3","PRPH2","SLC25A15","SLC45A2","SOX10","TSC1","TSC2","TYR"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RETINAL_NONATTACHMENT":{"collection":"C5:HPO","systematicName":"M37143","pmid":"","exactSource":"HP:0007899","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007899","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETINAL_NONATTACHMENT","geneSymbols":["AKT1","ATOH7","BEST1","IMPG1","IMPG2","PRPH2","PTEN"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_VITREOUS_HEMORRHAGE":{"collection":"C5:HPO","systematicName":"M37144","pmid":"","exactSource":"HP:0007902","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007902","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VITREOUS_HEMORRHAGE","geneSymbols":["BAP1","BEST1","CAPN5","CTNNB1","CYSLTR2","FZD4","GNA11","GNAQ","LRP5","NDP","PROC","RB1","RS1","SF3B1","SMC5","TSPAN12","ZNF408"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_TRACTIONAL_RETINAL_DETACHMENT":{"collection":"C5:HPO","systematicName":"M37145","pmid":"","exactSource":"HP:0007917","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007917","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TRACTIONAL_RETINAL_DETACHMENT","geneSymbols":["ATOH7","CTNNB1","FZD4","LRP5","NDP","TSPAN12","VCAN","ZNF408"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SLOW_DECREASE_IN_VISUAL_ACUITY":{"collection":"C5:HPO","systematicName":"M37146","pmid":"","exactSource":"HP:0007924","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007924","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SLOW_DECREASE_IN_VISUAL_ACUITY","geneSymbols":["AKT1","BAP1","BRAF","CTNNB1","DNAJC30","DNM1L","FA2H","GUCA1A","GUCY2D","MFN2","MT-ATP6","MT-CO1","MT-CO3","MT-CYB","MT-ND1","MT-ND2","MT-ND4","MT-ND4L","MT-ND5","MT-ND6","NDUFS2","NF2","PDGFB","PIK3CA","PRPH2","RAX2","RP1L1","SMARCB1","SMARCE1","SMO","SUFU","TERT","TGFBI","TRAF7"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LACRIMAL_DUCT_APLASIA":{"collection":"C5:HPO","systematicName":"M37147","pmid":"","exactSource":"HP:0007925","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007925","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LACRIMAL_DUCT_APLASIA","geneSymbols":["EYA1","FGF10","FGFR2","FGFR3","FRAS1","FREM2","GRIP1","KMT2D","SIX1","TRRAP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LIMITED_EXTRAOCULAR_MOVEMENTS":{"collection":"C5:HPO","systematicName":"M37149","pmid":"","exactSource":"HP:0007941","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007941","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIMITED_EXTRAOCULAR_MOVEMENTS","geneSymbols":["CHP1","COL25A1","COLQ","HSD17B4","KIF21A","LAMB2","NKX6-2","PHOX2A","SCO2","SYT2","TUBA1A","TUBB2B","TUBB3","VAMP1","VMA21"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_UNILATERAL_NARROW_PALPEBRAL_FISSURE":{"collection":"C5:HPO","systematicName":"M45425","pmid":"","exactSource":"HP:0007946","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007946","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UNILATERAL_NARROW_PALPEBRAL_FISSURE","geneSymbols":["COL25A1","RHOA","SMARCA2","TBL1XR1","ZFHX4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PERIPAPILLARY_CHORIORETINAL_ATROPHY":{"collection":"C5:HPO","systematicName":"M43344","pmid":"","exactSource":"HP:0007950","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007950","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERIPAPILLARY_CHORIORETINAL_ATROPHY","geneSymbols":["CFH","CFI","EFEMP1","NRL","TEAD1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CORNEAL_OPACITY":{"collection":"C5:HPO","systematicName":"M37150","pmid":"","exactSource":"HP:0007957","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007957","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CORNEAL_OPACITY","geneSymbols":["ABCA1","ABCG8","AGBL1","AIRE","ALDH18A1","ALDH3A2","ANKRD55","APOA1","APOA2","APOB","APOE","ARSB","ASAH1","ATAD3A","ATOH7","ATP7B","B3GALNT2","B3GALT6","B3GLCT","B4GAT1","B9D1","B9D2","BAZ1B","BCL7B","BMP4","BUB1","BUB1B","BUB3","BUD23","CC2D2A","CD247","CENPF","CEP290","CEP57","CHRDL1","CHST6","CHUK","CLIP2","COL11A1","COL17A1","COL18A1","COL4A1","COL7A1","COL8A2","COLEC10","COX7B","CPAMD8","CPLX1","CREBBP","CRPPA","CRYAA","CRYBA4","CRYBB1","CRYBB2","CRYGC","CRYGD","CSPP1","CTBP1","CTNS","CTSA","CYP1B1","CYP4V2","DAG1","DDB2","DHCR7","DNAJC30","DST","DYM","DYRK1A","EIF4H","ELN","ELP1","EP300","EPHX2","ERCC2","ERCC3","ERCC4","ERCC5","ERCC6","ERCC8","ESCO2","FBLN5","FERMT1","FGFR1","FIG4","FKBP6","FKRP","FKTN","FLG","FLNB","FOXC1","FOXE3","FRAS1","FUCA1","FZD4","GALNS","GBA1","GHR","GJA1","GJA8","GJB2","GJB3","GJB4","GLA","GLB1","GNAS","GNPTAB","GNPTG","GRHL2","GTF2I","GTF2IRD1","GTF2IRD2","GUSB","HCCS","HMX1","HRAS","IDS","IDUA","IKBKG","IL2RA","IL2RB","JAG1","JAM2","KDSR","KERA","KIF11","KRAS","KRT12","KRT14","KRT5","LARGE1","LCAT","LDLR","LETM1","LIFR","LIMK1","LIPC","LMNA","LRP5","LTBP2","MAB21L2","MAF","MAFB","MAN2B1","MAPKAPK5","MBTPS2","MCOLN1","METTL27","MKS1","MLXIPL","MMP1","MMP14","MMP2","MPV17","MT-CYB","MYORG","NAGA","NCAPG2","NCF1","NDP","NDUFB11","NELFA","NEU1","NGLY1","NLRP3","NOD2","NRAS","NSD2","NTRK1","OCLN","OCRL","OTUD5","OVOL2","PAX6","PCSK9","PCYT1A","PDGFB","PDGFRB","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PIGG","PIGL","PIGN","PIK3R1","PITX2","PITX3","PLCB3","PLXND1","POLA1","POLR3A","POMGNT1","POMGNT2","POMK","POMT1","POMT2","PORCN","PPP1R17","PRDM12","PRDM5","PSMB8","PTPN2","PTPN22","PXDN","RAB23","RAX","RBM8A","REV3L","RFC2","RIPK4","RPGRIP1","RPGRIP1L","RXYLT1","SC5D","SCARF2","SIX6","SLC20A2","SLC25A24","SLC29A3","SLC4A11","SLC4A4","SMARCAL1","SOX2","SREBF1","ST14","STAT4","STS","STX1A","SUMF1","TACSTD2","TAT","TBCE","TBCK","TBL2","TBX1","TCF4","TCTN1","TCTN2","TCTN3","TENM3","TGFBI","TMEM107","TMEM216","TMEM231","TMEM237","TMEM270","TMEM67","TRAPPC2","TRIP13","TRPV3","TRPV4","TWIST2","TXNDC15","UBIAD1","UROS","VAC14","VPS37D","VSX1","VSX2","WDR73","WT1","XPA","XPC","XPR1","YAP1","ZEB1","ZFHX2","ZMPSTE24","ZNF469"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_UNDETECTABLE_VISUAL_EVOKED_POTENTIALS":{"collection":"C5:HPO","systematicName":"M37151","pmid":"","exactSource":"HP:0007965","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007965","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UNDETECTABLE_VISUAL_EVOKED_POTENTIALS","geneSymbols":["ATP1A3","COX6B1","MPDU1","NDUFS4","OSTM1","PRPS1","RAB3GAP2","RDH11","ZNHIT3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_REMNANTS_OF_THE_HYALOID_VASCULAR_SYSTEM":{"collection":"C5:HPO","systematicName":"M37152","pmid":"","exactSource":"HP:0007968","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007968","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REMNANTS_OF_THE_HYALOID_VASCULAR_SYSTEM","geneSymbols":["ATOH7","BCOR","CRPPA","FZD4","LAMB2","NDP","NF2","PAX6","PRR12","SIX3","SMC5","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CONGENITAL_PTOSIS":{"collection":"C5:HPO","systematicName":"M41357","pmid":"","exactSource":"HP:0007970","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007970","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONGENITAL_PTOSIS","geneSymbols":["BRCC3","COL25A1","DNA2","IGF1","TRIO","ZFHX4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LAMELLAR_CATARACT":{"collection":"C5:HPO","systematicName":"M46132","pmid":"","exactSource":"HP:0007971","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007971","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LAMELLAR_CATARACT","geneSymbols":["BFSP1","CRYBA4","CRYGB","CRYGS","HSF4","MIP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RETINAL_DYSPLASIA":{"collection":"C5:HPO","systematicName":"M37153","pmid":"","exactSource":"HP:0007973","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007973","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETINAL_DYSPLASIA","geneSymbols":["B3GALNT2","B4GAT1","COL4A1","COX7B","CRPPA","DAG1","DNAJC21","FKRP","FKTN","FLNB","FOXE3","HCCS","INPP5E","KIF11","LARGE1","NDP","NDUFB11","PDE6D","POMGNT1","POMGNT2","POMK","POMT1","POMT2","RXYLT1","TUBB"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_GAZE_EVOKED_HORIZONTAL_NYSTAGMUS":{"collection":"C5:HPO","systematicName":"M37154","pmid":"","exactSource":"HP:0007979","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007979","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GAZE_EVOKED_HORIZONTAL_NYSTAGMUS","geneSymbols":["ATP1A2","BEAN1","CACNA1A","CACNA1G","FGF14","GCH1","GRM1","ITPR1","KCND3","PAX7","PRRT2","RBL2","SACS","SCN1A","SOX3","SYT14","THG1L","UROC1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ELECTRONEGATIVE_ELECTRORETINOGRAM":{"collection":"C5:HPO","systematicName":"M47128","pmid":"","exactSource":"HP:0007984","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007984","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELECTRONEGATIVE_ELECTRORETINOGRAM","geneSymbols":["ABCA4","CABP4","CACNA1F","CACNA2D4","GNAT1","GNB3","GPR179","GRK1","GRM6","LRIT3","NYX","PDE6B","RHO","RLBP1","RS1","SAG","SLC24A1","TRPM1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PROGRESSIVE_VISUAL_FIELD_DEFECTS":{"collection":"C5:HPO","systematicName":"M37155","pmid":"","exactSource":"HP:0007987","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007987","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROGRESSIVE_VISUAL_FIELD_DEFECTS","geneSymbols":["BRAF","CTNNB1","PRPF3","PRPH2","RDH5","RHO","RLBP1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MACULAR_HYPOPIGMENTATION":{"collection":"C5:HPO","systematicName":"M46133","pmid":"","exactSource":"HP:0007988","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007988","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MACULAR_HYPOPIGMENTATION","geneSymbols":["ADAR","IFT74","MC1R","NMNAT1","OCA2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPOPLASTIC_IRIS_STROMA":{"collection":"C5:HPO","systematicName":"M37156","pmid":"","exactSource":"HP:0007990","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007990","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASTIC_IRIS_STROMA","geneSymbols":["CHN1","FOXC1","MAFB","MITF","PAX3","PAX6","PITX2","SALL4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PERIPHERAL_VISUAL_FIELD_LOSS":{"collection":"C5:HPO","systematicName":"M37157","pmid":"","exactSource":"HP:0007994","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0007994","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERIPHERAL_VISUAL_FIELD_LOSS","geneSymbols":["ABCA4","AGBL5","ARL6","BBS1","CCDC28B","CNGA1","CNGB1","CRX","CWC27","CYP1B1","DLAT","EFEMP1","GUCY2D","IDS","IFT140","LCA5","LRAT","MYOC","PDE6A","POU3F4","PROM1","PRPF6","PRPH2","RDH5","RHO","RLBP1","RNU4ATAC","RPE65","RRM2B","SDHA","SEMA4A","SH3TC2","SLC6A6","SPATA7","ZNF513"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_MACULAR_PIGMENTATION":{"collection":"C5:HPO","systematicName":"M37159","pmid":"","exactSource":"HP:0008002","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008002","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_MACULAR_PIGMENTATION","geneSymbols":["ABCA4","ADAR","APOE","CACNA1F","CDH3","CFAP418","CFH","CFHR1","CFHR3","CFI","CHM","CLN3","CNGB3","CRLS1","CRX","CTNNA1","EFEMP1","ELOVL4","HARS1","HMCN1","IFT74","IMPDH1","IMPG1","LCA5","LRAT","MAK","MC1R","MFSD8","MMACHC","NMNAT1","OCA2","OPN1LW","OPN1MW","PAX2","PCYT1A","PROM1","PRPH2","RAB28","RAX2","RD3","RP2","RPE65","SLC38A8","SPATA7","TLCD3B","TMCO1","VPS13B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_JERKY_OCULAR_PURSUIT_MOVEMENTS":{"collection":"C5:HPO","systematicName":"M37160","pmid":"","exactSource":"HP:0008003","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008003","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_JERKY_OCULAR_PURSUIT_MOVEMENTS","geneSymbols":["AARS1","GBA2","GDAP2","KCNC3","PLD3","PRNP","SPTBN2","SYNE1","TTBK2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PRIMARY_CONGENITAL_GLAUCOMA":{"collection":"C5:HPO","systematicName":"M37161","pmid":"","exactSource":"HP:0008007","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008007","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PRIMARY_CONGENITAL_GLAUCOMA","geneSymbols":["ADAMTSL1","CYP1B1","LMX1B","LTBP2","RPS19","TEK"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PERIPHERAL_OPACIFICATION_OF_THE_CORNEA":{"collection":"C5:HPO","systematicName":"M37162","pmid":"","exactSource":"HP:0008011","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008011","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERIPHERAL_OPACIFICATION_OF_THE_CORNEA","geneSymbols":["ABCG8","ALDH18A1","APOA1","APOA2","APOB","APOE","CHRDL1","EPHX2","GHR","KERA","LCAT","LDLR","LIPC","MMP2","PCSK9","PPP1R17","SLC29A3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_IRIS_PIGMENTATION":{"collection":"C5:HPO","systematicName":"M37163","pmid":"","exactSource":"HP:0008034","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008034","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_IRIS_PIGMENTATION","geneSymbols":["ACTB","ACTG1","ADAMTSL4","ADGRV1","AKT1","AP3B1","AP3D1","ARSG","ATP10A","BAZ1B","BCL7B","BEST1","BLOC1S3","BLOC1S5","BLOC1S6","BUD23","C1QTNF5","CASZ1","CDH23","CEP78","CHN1","CHRDL1","CIB2","CLIP2","CLRN1","COL18A1","CPAMD8","DCT","DNAJC30","DTNBP1","EDC3","EDN3","EDNRB","EIF4H","ELN","ELP1","EPG5","ESPN","FKBP6","GABRD","GATA1","GNAQ","GPR143","GTF2I","GTF2IRD1","GTF2IRD2","HARS1","HERC2","HPS1","HPS4","HPS5","HPS6","HRAS","HSPG2","IMPG1","IMPG2","KANSL1","KCNAB2","KIT","KITLG","LIMK1","LMX1B","LRMDA","LUZP1","LYST","MAFB","MAGEL2","MAPK1","MC1R","METTL27","MITF","MKRN3","MLPH","MLXIPL","MMP23B","MT-TS2","MYH11","MYO5A","MYO7A","NCF1","NDN","NPAP1","OCA2","PAH","PAX3","PCDH15","PDE4D","PDPN","PDZD7","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PITX2","PNPLA6","PRDM16","PRKAR1A","PRKCZ","PRPH2","PRR12","PTEN","PWAR1","PWRN1","RAB27A","RERE","RFC2","RLIM","SALL4","SKI","SLC24A5","SLC45A2","SNAI2","SNORD115-1","SNORD116-1","SNRPN","SOS1","SOX10","SPEN","STX1A","TBL2","TMEM270","TP63","TYR","TYRP1","UBE3A","UBE4B","USH1C","USH1G","USH2A","VPS37D","WDR45","WHRN","XYLT2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APLASTIC_HYPOPLASTIC_LACRIMAL_GLANDS":{"collection":"C5:HPO","systematicName":"M37164","pmid":"","exactSource":"HP:0008038","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008038","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASTIC_HYPOPLASTIC_LACRIMAL_GLANDS","geneSymbols":["FGF10","FGFR2","FGFR3","FOXL2","GJB2","GJB6","SLC25A24","SOX10"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_RETINAL_VASCULAR_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M37165","pmid":"","exactSource":"HP:0008046","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008046","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RETINAL_VASCULAR_MORPHOLOGY","geneSymbols":["ABCA4","ABCC6","ACVRL1","AGBL5","AHI1","AHR","AIPL1","ANTXR1","APOC2","ARHGEF18","ARL2BP","ARL3","ARL6","ARV1","ARVCF","ASAH1","ATF6","BAZ1B","BBS1","BBS2","BBS9","BCL7B","BEST1","BUD23","CA4","CAPN5","CC2D2A","CCDC28B","CCM2","CCND1","CDHR1","CENPF","CERKL","CFAP410","CFAP418","CHM","CLCC1","CLCNKB","CLIP2","CLRN1","CNGA1","CNGA3","CNGB1","CNGB3","CNNM4","COL18A1","COL4A1","COMT","CRB1","CRX","CTC1","CTNNB1","CTSA","CYP1B1","CYP27A1","DARS1","DGCR2","DGCR6","DGCR8","DHDDS","DHX38","DLK1","DLST","DNAJC30","DNMT3A","DNMT3B","DUX4","DUX4L1","EFEMP1","EIF4H","ELN","ENG","ENPP1","EPAS1","ERCC4","ESS2","ETHE1","EYS","F12","FAM161A","FGF12","FH","FKBP6","FLVCR1","FRG1","FSCN2","FUCA1","FZD4","G6PC1","GALC","GDF2","GGCX","GLB1","GM2A","GNAQ","GNAT2","GP1BB","GPIHBP1","GTF2I","GTF2IRD1","GTF2IRD2","GUCA1B","GUCY2D","HARS1","HEXA","HEXB","HGSNAT","HIRA","HK1","HLA-A","HSD11B2","IDH3A","IDH3B","IFT140","IFT172","IFT43","IFT88","IGFBP7","IKBKG","IMPDH1","IMPG1","IMPG2","IVNS1ABP","JMJD1C","KIAA1549","KIF1B","KIZ","KLHL7","KRIT1","LAMB2","LCA5","LCK","LIMK1","LOXL1","LPL","LRAT","LRP5","LRRC32","MAK","MAX","MDH2","MEG3","MERTK","METTL27","MKS1","MLXIPL","MT-ATP6","MT-CO1","MT-CO3","MT-CYB","MT-ND1","MT-ND2","MT-ND4","MT-ND4L","MT-ND5","MT-ND6","MVK","MYD88","MYOC","NCF1","NDP","NDUFS2","NEK1","NEK2","NEU1","NF1","NMNAT1","NOD2","NR2E3","NRL","NUS1","OFD1","PAX6","PCARE","PCNA","PDCD10","PDE6A","PDE6B","PDE6C","PDE6G","PDE6H","PIK3CA","POMGNT1","PRCD","PROM1","PRPF3","PRPF31","PRPF4","PRPF6","PRPF8","PRPH2","PSAP","RAX2","RBP3","RDH11","RDH12","RDH5","REEP6","RET","RFC2","RGR","RHO","RLBP1","ROM1","RP1","RP1L1","RP2","RP9","RPE65","RPGR","RPGRIP1","RREB1","RTL1","RTTN","SAG","SCAPER","SDHA","SDHAF2","SDHB","SDHC","SDHD","SEC24C","SELENOI","SEMA4A","SERPINC1","SETD2","SLC24A1","SLC25A11","SLC37A4","SLC6A6","SLC7A14","SMAD4","SMCHD1","SMPD1","SNRNP200","SPATA7","SSBP1","STN1","STX1A","TBL2","TBX1","TLCD3B","TMEM127","TMEM231","TMEM270","TOPORS","TREX1","TSPAN12","TTC8","TUB","TULP1","UFD1","UNC119","USH2A","USP45","VHL","VPS37D","WDR19","WT1","YME1L1","ZNF408","ZNF513"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_VASCULATURE_OF_THE_EYE":{"collection":"C5:HPO","systematicName":"M37166","pmid":"","exactSource":"HP:0008047","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008047","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_VASCULATURE_OF_THE_EYE","geneSymbols":["AARS1","ABCA4","ABCC6","ACVRL1","AEBP1","AGBL5","AHI1","AHR","AIPL1","AIRE","ANO10","ANTXR1","AP1B1","AP1G1","APOC2","ARHGEF18","ARL2BP","ARL3","ARL6","ARV1","ARVCF","ASAH1","ATF6","ATM","BAZ1B","BBS1","BBS2","BBS9","BCL7B","BEST1","BLNK","BTD","BTK","BTNL2","BUD23","C4A","CA4","CAPN5","CARS1","CC2D2A","CCDC28B","CCM2","CCND1","CCR1","CD19","CD79A","CD79B","CDHR1","CENPF","CERKL","CFAP410","CFAP418","CHM","CLCC1","CLCNKB","CLIP2","CLRN1","CNGA1","CNGA3","CNGB1","CNGB3","CNNM4","COL17A1","COL18A1","COL4A1","COL7A1","COMT","CR2","CRB1","CRX","CTC1","CTNNB1","CTSA","CYP1B1","CYP27A1","DARS1","DDB2","DGCR2","DGCR6","DGCR8","DHDDS","DHX38","DKC1","DLK1","DLST","DNAJC30","DNASE1L3","DNMT3A","DNMT3B","DUX4","DUX4L1","EFEMP1","EIF4H","ELN","ENG","ENPP1","EPAS1","ERAP1","ERCC1","ERCC2","ERCC3","ERCC4","ERCC5","ERCC6","ERCC8","ERF","ESS2","ETHE1","EYS","F12","FAM161A","FAS","FBN1","FERMT1","FGF10","FGF12","FGFR2","FGFR3","FH","FKBP6","FLVCR1","FOXC1","FOXC2","FRG1","FSCN2","FUCA1","FZD4","G6PC1","GALC","GATA1","GDF2","GGCX","GJB2","GJB6","GLA","GLB1","GM2A","GNAQ","GNAS","GNAT2","GP1BB","GPIHBP1","GSN","GTF2E2","GTF2H5","GTF2I","GTF2IRD1","GTF2IRD2","GUCA1B","GUCY2D","HARS1","HEXA","HEXB","HGSNAT","HIRA","HK1","HLA-A","HLA-B","HLA-DRB1","HLCS","HSD11B2","IARS2","ICOS","IDH3A","IDH3B","IFNGR1","IFT140","IFT172","IFT43","IFT88","IGFBP7","IGHM","IGLL1","IGSF3","IKBKG","IKZF1","IL10","IL12A","IL12A-AS1","IL23R","IMPDH1","IMPG1","IMPG2","IVNS1ABP","JMJD1C","KAT6A","KIAA1549","KIF1B","KIZ","KLHL7","KLRC4","KRIT1","LAMB2","LBR","LCA5","LCK","LIG1","LIMK1","LOXL1","LPL","LRAT","LRBA","LRP5","LRRC32","LRRC8A","MAB21L1","MAK","MANBA","MAPT","MASP1","MAX","MBTPS2","MDH2","MEFV","MEG3","MERTK","METTL27","MKS1","MLXIPL","MMP1","MPLKIP","MT-ATP6","MT-CO1","MT-CO3","MT-CYB","MT-ND1","MT-ND2","MT-ND4","MT-ND4L","MT-ND5","MT-ND6","MTTP","MVK","MYD88","MYOC","NAGA","NBN","NCF1","NDP","NDUFS2","NEK1","NEK2","NEU1","NF1","NLRP1","NLRP3","NMNAT1","NOD2","NR2E3","NRL","NUS1","OFD1","PAX1","PAX6","PCARE","PCNA","PDCD10","PDE6A","PDE6B","PDE6C","PDE6G","PDE6H","PEX6","PIK3CA","PIK3R1","PLG","POLH","POMGNT1","PRCD","PROM1","PRPF3","PRPF31","PRPF4","PRPF6","PRPF8","PRPH2","PSAP","PSMB4","PSMB8","PSMB9","RAG1","RAG2","RAX2","RBP3","RDH11","RDH12","RDH5","RECQL","REEP6","RET","RFC2","RGR","RHO","RLBP1","RNF113A","RNF125","RNF168","ROM1","RP1","RP1L1","RP2","RP9","RPE65","RPGR","RPGRIP1","RREB1","RTL1","RTTN","SAG","SAMD9","SASH1","SCAPER","SCN9A","SDHA","SDHAF2","SDHB","SDHC","SDHD","SEC24C","SELENOI","SEMA4A","SERPINC1","SETD2","SETX","SHMT2","SLC24A1","SLC25A11","SLC37A4","SLC39A4","SLC39A7","SLC6A6","SLC7A14","SMAD4","SMCHD1","SMPD1","SNRNP200","SPATA7","SPI1","SREBF1","SSBP1","STAT4","STN1","STX11","STX16","STX1A","TARS1","TBL2","TBX1","TCF3","TFRC","TGFBI","TKT","TLCD3B","TLR4","TMEM127","TMEM231","TMEM270","TNFRSF13B","TNFRSF13C","TNFRSF1A","TOPORS","TP63","TREX1","TSPAN12","TTC8","TUB","TULP1","UBAC2","UFD1","UNC119","UROD","UROS","USB1","USH2A","USP45","VHL","VPS33A","VPS37D","WAS","WDR19","WIPF1","WT1","XPA","XPC","YME1L1","ZNF408","ZNF513"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_LINE_OF_SCHWALBE_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M47129","pmid":"","exactSource":"HP:0008048","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008048","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LINE_OF_SCHWALBE_MORPHOLOGY","geneSymbols":["ARVCF","BAZ1B","BCL7B","BUD23","CLIP2","COMT","COX7B","DGCR2","DGCR6","DGCR8","DNAJC30","EIF4H","ELN","ESS2","FKBP6","FOXC1","GP1BB","GTF2I","GTF2IRD1","GTF2IRD2","HCCS","HIRA","HMX1","HS2ST1","JAG1","JMJD1C","LIMK1","METTL27","MLXIPL","NCF1","NDUFB11","NOTCH2","PAX6","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PIK3R1","PITX2","RFC2","RREB1","SEC24C","SLC38A8","STX1A","TBL2","TBX1","TMEM270","UFD1","VPS37D","YAP1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_EXTRAOCULAR_MUSCLES":{"collection":"C5:HPO","systematicName":"M37167","pmid":"","exactSource":"HP:0008049","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008049","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_EXTRAOCULAR_MUSCLES","geneSymbols":["COL25A1","KIF21A","LIG3","MATR3","PHOX2A","POLG","RRM2B","TUBA1A","TUBB2B","TUBB3","TYMP","ZFHX4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_PALPEBRAL_FISSURES":{"collection":"C5:HPO","systematicName":"M37168","pmid":"","exactSource":"HP:0008050","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008050","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_PALPEBRAL_FISSURES","geneSymbols":["AARS1","ABAT","ABCA5","ABL1","ACSL4","ACTB","ACTG1","ACTL6B","ADAMTS2","ADAMTS3","ADAMTSL2","ADARB1","ADAT3","ADNP","AFF3","AFF4","AGO1","AGO2","AGR2","AHDC1","AKT1","ALDH1A2","ALDH1A3","ALDH6A1","ALG14","ALG2","ALX4","AMMECR1","AMPD2","ANK1","ANKLE2","ANKRD11","ANKRD17","AP1S1","AP3B1","AP3B2","AP4E1","APC","APC2","ARCN1","ARHGEF2","ARID1B","ARID2","ARL6","ARV1","ARVCF","ARX","ASPH","ASPM","ASXL1","ASXL3","ATAD3A","ATP1A2","ATP1A3","ATP6V0A2","ATP6V1A","ATP6V1B2","ATP6V1E1","ATP7A","ATR","ATRIP","ATRX","AUTS2","B3GAT3","B3GLCT","B9D2","BAP1","BAZ1B","BBIP1","BBS1","BBS10","BBS12","BBS2","BBS4","BBS5","BBS7","BBS9","BCL11A","BCL11B","BCL7B","BCOR","BCORL1","BCR","BGN","BICRA","BLTP1","BMP1","BMP2","BMPR1A","BPTF","BRAF","BRCA1","BRCA2","BRF1","BRIP1","BRPF1","BUB1","BUB1B","BUB3","BUD23","C12orf57","C2CD3","CACNA1A","CACNA1B","CACNA1G","CACNA2D1","CAMK2A","CAMK2G","CAMTA1","CASK","CBL","CCDC115","CCDC22","CCDC32","CCDC47","CCNK","CD96","CDC42","CDC42BPB","CDH11","CDH2","CDK10","CDK13","CDK19","CDK5RAP2","CDK6","CELF2","CENPE","CENPJ","CENPT","CEP135","CEP152","CEP19","CEP290","CEP55","CEP57","CEP63","CERT1","CFAP418","CHAMP1","CHD1","CHD4","CHD5","CHD7","CHD8","CHN1","CHRNA7","CHRNG","CHST14","CHST3","CIT","CKAP2L","CLCN3","CLCN4","CLIP2","CLP1","CLTC","CLTCL1","CNKSR2","CNOT2","CNOT3","CNTNAP2","COG1","COG7","COL11A1","COL11A2","COL25A1","COL3A1","COL5A1","COL9A3","COLEC10","COLEC11","COMT","COPB1","COPB2","CPLX1","CREBBP","CRKL","CRTAP","CSGALNACT1","CTBP1","CTNND2","CTU2","CUL4B","CUX1","CWC27","CYFIP2","DACT1","DALRD3","DCHS1","DDB1","DDR2","DDX3X","DDX59","DDX6","DEAF1","DGCR2","DGCR6","DGCR8","DHCR24","DHCR7","DHDDS","DHODH","DHX30","DLG3","DLK1","DLX4","DMXL2","DNA2","DNAJC21","DNAJC30","DNM1","DNMT3A","DOCK3","DOCK6","DOK7","DONSON","DPF2","DPH1","DPH2","DPH5","DPM1","DPP9","DPYD","DPYSL5","DSE","DVL1","DVL3","DYNC1H1","DYNC1I2","DYNC2LI1","DYRK1A","EBF3","EBP","EDEM3","EED","EEF1A2","EFEMP2","EFNB1","EFTUD2","EHMT1","EIF2AK3","EIF4H","EIF5A","ELN","EP300","ERCC1","ERCC4","ERCC6","ERMARD","ESCO2","ESS2","EXOC2","EXOSC2","EZH2","FAM20C","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FAT4","FBLN5","FBN1","FBXL4","FBXO11","FBXO28","FBXO31","FGD1","FGF12","FGF13","FGF3","FGFR1","FGFR2","FGFR3","FHL1","FIBP","FIG4","FKBP6","FLCN","FLI1","FLII","FLNA","FOXG1","FOXL2","FOXP1","FOXP2","FRA10AC1","FREM1","FTSJ1","FZD2","FZR1","GABBR2","GABRA2","GABRA3","GABRA5","GABRB2","GABRG2","GAD1","GALNT2","GATA1","GATA4","GATAD2B","GJA1","GJA5","GJA8","GLE1","GLI3","GMNN","GNB2","GON7","GORAB","GP1BB","GPC3","GPC4","GPC6","GPKOW","GRIN2D","GSC","GTF2I","GTF2IRD1","GTF2IRD2","H3-3A","H4C11","H4C3","H4C5","H4C9","HBA1","HBA2","HBB","HCN1","HDAC4","HEATR3","HECTD4","HERC1","HERC2","HHAT","HIRA","HIVEP2","HNRNPH1","HNRNPH2","HNRNPK","HNRNPR","HNRNPU","HRAS","HS2ST1","HS6ST2","HSD17B4","HSPG2","HUWE1","IDH1","IFT140","IFT172","IFT27","IFT57","IFT74","IGBP1","IGF1R","IL11RA","IL1RAPL1","IL6ST","INPPL1","INTS1","IPO8","IQSEC2","IRX5","JAG1","JARID2","JMJD1C","KANSL1","KAT5","KAT6B","KAT8","KATNB1","KCNA2","KCNB1","KCNE5","KCNH1","KCNJ2","KCNJ5","KCNMA1","KCNN3","KCTD1","KDM1A","KDM4B","KDM5B","KDM5C","KDM6A","KIF11","KIF14","KIF15","KIF26A","KIF7","KIFBP","KLF13","KMT2A","KMT2C","KMT2D","KMT2E","KNL1","KPTN","KRAS","KREMEN1","LARP7","LDHD","LETM1","LIFR","LIG4","LIMK1","LMBRD2","LMNA","LMNB1","LMX1B","LRP2","LRP4","LTBP1","LZTFL1","LZTR1","MAD2L2","MADD","MAF","MAFB","MAGEL2","MAN1B1","MAP2K1","MAP2K2","MAP3K7","MAPK1","MAPK8IP3","MAPKAPK5","MAPRE2","MASP1","MCM7","MCPH1","MCTP2","MECP2","MED12","MED12L","MED13","MED13L","MED25","MEF2C","MEG3","MEGF8","MEIS2","METTL27","METTL5","MFSD2A","MGAT2","MID1","MINPP1","MKKS","MKRN3","MKS1","MLXIPL","MN1","MOGS","MPDZ","MRAS","MRPS2","MSL3","MTOR","MTSS2","MUSK","MVK","MYCN","MYH3","MYL11","MYMK","MYMX","MYOD1","NAA10","NAA20","NALCN","NARS1","NBN","NCAPD3","NCF1","NDN","NDUFS4","NECAP1","NECTIN1","NEK9","NELFA","NEXMIF","NF1","NFIA","NFIB","NFIX","NOG","NONO","NOTCH2","NOTCH3","NOVA2","NPAP1","NPHP1","NR2F1","NRAS","NRCAM","NSD1","NSD2","NSDHL","NSRP1","NSUN2","NTRK2","NUAK2","NUP37","NUP85","NUS1","NXN","OCA2","OCRL","ODC1","OFD1","OGDHL","ORC1","ORC6","OSGEP","OTUD5","OTUD6B","P4HB","PACS1","PACS2","PAFAH1B1","PAK3","PALB2","PARS2","PAX3","PCDHGC4","PCGF2","PCLO","PCNT","PDE4D","PDGFRB","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PEX7","PGAP1","PGAP2","PGAP3","PGM2L1","PGM3","PHC1","PHF6","PHF8","PHIP","PHOX2B","PIEZO2","PIGA","PIGB","PIGG","PIGL","PIGN","PIGO","PIGT","PIGV","PIGW","PIGY","PIK3CA","PIK3R2","PITX1","PKDCC","PLK4","PLOD1","PLPBP","PMM2","POGZ","POLA1","POLR1A","POLR1B","POLR1C","POLR1D","POLR3A","POLR3GL","PPP1CB","PPP1R12A","PPP1R15B","PPP1R21","PPP2R1A","PPP2R5D","PPP3CA","PQBP1","PRDM13","PRIM1","PRKAR1B","PRMT7","PRPS1","PRR12","PRRX1","PSMD12","PTCH1","PTEN","PTPN11","PUF60","PURA","PUS7","PWAR1","PWRN1","PYCR1","PYCR2","QRICH1","RAB11B","RAB18","RAB3GAP2","RAC1","RAD21","RAD51","RAD51C","RAF1","RAI1","RAPSN","RASA2","RBBP8","RBM10","RBMX","RBPJ","RDH11","RECQL4","RERE","RFC2","RFWD3","RFX7","RHOA","RIN2","RIPK4","RIT1","RLIM","RNF135","RNF2","RNU4ATAC","ROR2","RPL10","RPS19","RPS28","RPS6KA3","RRAS","RRAS2","RREB1","RTL1","RTTN","RYR1","SALL1","SALL4","SARS1","SASS6","SATB1","SATB2","SC5D","SCAPER","SCARF2","SCLT1","SCN3A","SCN4A","SCN8A","SCNM1","SDCCAG8","SEC24C","SEC24D","SEMA5A","SEPTIN9","SET","SETBP1","SETD1A","SETD1B","SETD2","SETD5","SF3B2","SF3B4","SH3PXD2B","SHOC2","SIAH1","SIM1","SIN3A","SKI","SKIC3","SLC13A5","SLC19A3","SLC1A2","SLC25A24","SLC29A3","SLC2A10","SLC30A9","SLC38A3","SLC39A13","SLC45A1","SLC6A17","SLC9A7","SLF2","SLX4","SMAD4","SMARCA2","SMC1A","SMC5","SMO","SMOC1","SMPD4","SMS","SNAP29","SNORD115-1","SNORD116-1","SNRPB","SNRPN","SNX14","SON","SOS1","SOS2","SOX11","SOX5","SOX6","SOX9","SPART","SPATA5L1","SPECC1L","SPEN","SPOP","SPRED1","SPRED2","SPTBN1","SRCAP","STAC3","STAG2","STEEP1","STIL","STRA6","STT3A","STX1A","STXBP1","SUPT16H","SUZ12","SYNGAP1","SYNJ1","SYT1","SZT2","TAF1","TAF13","TASP1","TBC1D2B","TBCD","TBCK","TBL1XR1","TBL2","TBR1","TBX1","TBX15","TBX6","TCF4","TCOF1","TELO2","TENM3","TFAP2A","TFAP2B","TFE3","TGDS","TGFB2","TGFB3","THOC6","THUMPD1","TLK2","TMCO1","TMEM107","TMEM147","TMEM237","TMEM270","TNNI2","TNRC6B","TOE1","TOR1A","TP63","TRAIP","TRAK1","TRAPPC10","TRAPPC14","TRIM32","TRIO","TRIP12","TRIP13","TRMT1","TRMT10A","TRPM3","TRRAP","TSPEAR","TSR2","TTC26","TTC8","TUBB","TUBB3","TUBGCP2","TWIST1","TWIST2","TXNL4A","UBA5","UBE2A","UBE2T","UBE3A","UBE3B","UBR1","UBR7","UFD1","UGDH","UMPS","UNC80","UQCC2","USP9X","VAC14","VPS13B","VPS35L","VPS37D","WAC","WARS1","WASF1","WASHC5","WDPCP","WDR35","WDR62","WNT5A","WWOX","XRCC2","XRCC4","YWHAE","YWHAG","YY1","ZBTB18","ZBTB20","ZC4H2","ZEB2","ZFHX4","ZIC1","ZIC2","ZMIZ1","ZMPSTE24","ZMYM2","ZMYND11","ZNF148","ZNF292","ZNF462","ZNF526","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RETINAL_FOLD":{"collection":"C5:HPO","systematicName":"M37169","pmid":"","exactSource":"HP:0008052","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008052","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETINAL_FOLD","geneSymbols":["ATOH7","CTNNB1","FZD4","KIF11","LRP5","NDP","PIEZO2","PRSS56","TSPAN12","TUBGCP6","ZNF408"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_MORPHOLOGY_OF_THE_CONJUNCTIVAL_VASCULATURE":{"collection":"C5:HPO","systematicName":"M37170","pmid":"","exactSource":"HP:0008054","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008054","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MORPHOLOGY_OF_THE_CONJUNCTIVAL_VASCULATURE","geneSymbols":["ACVRL1","ANO10","ATM","CTSA","DDB2","ENG","ERCC2","ERCC3","ERCC4","ERCC5","FUCA1","GDF2","GLA","GNAQ","LIG1","MANBA","MASP1","NAGA","NBN","PCNA","PEX6","RNF168","SASH1","SETX","SMAD4","XPA","XPC"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APLASIA_HYPOPLASIA_AFFECTING_THE_EYE":{"collection":"C5:HPO","systematicName":"M37171","pmid":"","exactSource":"HP:0008056","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008056","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_AFFECTING_THE_EYE","geneSymbols":["AARS1","ABCA4","ABCB6","ACTB","ACTG1","ADAMTS10","ADAMTSL1","ALDH1A2","ALDH1A3","ALDH6A1","ALX1","ALX3","ALX4","ANKRD11","AP2M1","AP3D1","APC","ARHGAP31","ARNT2","ARSL","ARVCF","ARX","ASNS","ASPH","ATAD3A","ATF6","ATN1","ATOH7","B3GALNT2","B4GAT1","B9D1","B9D2","BAZ1B","BCL7B","BCOR","BDNF","BEST1","BLOC1S3","BLOC1S5","BMP4","BRCA1","BRCA2","BRIP1","BTRC","BUB1","BUB1B","BUB3","BUD23","C12orf57","CACNA1C","CACNA1F","CAPN15","CARS1","CASK","CC2D2A","CDC42BPB","CDON","CENPF","CEP120","CEP290","CEP57","CEP85L","CFAP418","CHD2","CHD7","CHN1","CHUK","CLIP2","CNGA3","CNGB3","COL18A1","COL25A1","COL2A1","COL4A1","COMT","COX14","COX7B","CPAMD8","CPLX1","CRB1","CRPPA","CRYAA","CSPP1","CTBP1","CTDP1","CTNNB1","DACT1","DAG1","DCT","DDHD2","DHCR7","DIS3L2","DLL4","DLST","DLX5","DLX6","DNAJC30","DNMT3A","DOCK6","DOCK7","DONSON","DPYD","EBP","EIF4H","ELN","ELOVL4","ELP4","EOGT","EPG5","EPS15L1","ERCC1","ERCC2","ERCC3","ERCC4","ERCC5","ERCC6","ERCC8","ERF","ESCO2","EXOC2","FAM111A","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FBN1","FBXW11","FBXW4","FDFT1","FGF3","FGFR1","FGFRL1","FH","FIG4","FKBP6","FKRP","FKTN","FOXA2","FOXC1","FOXC2","FOXE3","FOXL2","FRAS1","FREM1","FREM2","FZD4","GATAD2B","GDF3","GDF6","GJA1","GJA5","GJA8","GLI2","GLI3","GLYCTK","GMPPB","GNAT2","GNPAT","GP1BB","GPC3","GPR143","GPR161","GPRASP2","GRIA4","GRIP1","GTF2E2","GTF2H5","GTF2I","GTF2IRD1","GTF2IRD2","H19","HCCS","HDAC6","HESX1","HHAT","HIRA","HMGB3","HMX1","HNRNPK","HNRNPU","HPS4","HPS5","HPS6","HRAS","HS2ST1","HSPG2","HYLS1","IFT74","IGF1R","IKBKG","INTS1","INTU","ITPR1","JAM3","JARID2","JMJD1C","KCNK4","KERA","KIF11","KIF14","KIF15","KIF1B","KIF21A","KIF7","KMT2D","KNSTRN","KRAS","LAMB2","LARGE1","LDHD","LETM1","LHX3","LHX4","LIMK1","LMBRD2","LMX1B","LRP2","LRP5","LTBP2","LYST","MAB21L2","MACF1","MAD2L2","MAF","MAFB","MAP2K2","MAPRE2","MAX","MBTPS2","MC1R","MDH2","MED12","MED13L","MED25","MEF2C","METTL27","MFRP","MIR184","MITF","MKS1","MLXIPL","MPDZ","MPLKIP","MT-CYB","MTSS2","MYO5A","NAA10","NCF1","NDE1","NDP","NDUFB11","NEFL","NEU1","NEXMIF","NF1","NFIX","NHS","NOTCH1","NR2F1","NRAS","NSD2","NUAK2","NUP188","OCA2","OCRL","OSGEP","OTUD5","OTX2","PALB2","PAX2","PAX3","PAX6","PCYT1A","PDE6C","PDE6D","PDE6H","PDGFRB","PEX7","PHGDH","PHOX2A","PHYH","PIEZO2","PIGN","PIK3CA","PIK3CD","PIK3R1","PITX2","PITX3","PLK4","PLXNA1","POGZ","POLR1B","POLR1C","POLR1D","POLR3A","POMGNT1","POMGNT2","POMK","POMT1","POMT2","PORCN","POU1F1","POU6F2","PPP1CB","PPP2R1A","PQBP1","PRIM1","PROKR2","PROM1","PROP1","PRPH2","PRPS1","PRR12","PRSS56","PTCH1","PTF1A","PTPN23","PUF60","PXDN","RAB18","RAB3GAP1","RAB3GAP2","RAD51","RAD51C","RARB","RAX","RB1","RBBP8","RBP4","RBPJ","RECQL4","RERE","REST","RET","RFC2","RFWD3","RFX7","RHOA","RIPK4","RMRP","RNF113A","RNF135","ROBO1","RPGR","RPGRIP1","RPGRIP1L","RREB1","RSPO2","RTTN","RXYLT1","SALL1","SALL4","SCN1A","SCN8A","SDHA","SDHAF2","SDHB","SDHC","SDHD","SEC24C","SEM1","SEMA3E","SETD2","SETD5","SF3B2","SHH","SIN3A","SIX3","SIX6","SLC16A12","SLC24A5","SLC25A11","SLC25A19","SLC25A24","SLC2A1","SLC38A8","SLC45A2","SLC6A1","SLX4","SMAD4","SMC5","SMCHD1","SMG9","SMO","SMOC1","SNAP29","SNX10","SON","SOX10","SOX2","SOX3","SPECC1L","SPOP","SRD5A3","STAG2","STIM1","STRA6","STX1A","SYCE1","SYNGAP1","TARS1","TBC1D20","TBCE","TBL1XR1","TBL2","TBR1","TBX1","TBX15","TCOF1","TCTN1","TCTN2","TCTN3","TENM3","TFAP2A","TKFC","TMEM107","TMEM127","TMEM216","TMEM231","TMEM237","TMEM270","TMEM67","TMEM98","TMTC3","TOGARAM1","TONSL","TP63","TRIM28","TRIM44","TRIP13","TRIT1","TSPAN12","TUBA1A","TUBA8","TUBB","TUBB2B","TUBB3","TUBGCP4","TUBGCP6","TXNDC15","TYR","UBE2T","UFD1","UGP2","VAC14","VAX1","VHL","VPS13B","VPS35L","VPS37D","VSX1","VSX2","WDR11","WDR37","WDR73","WNT10B","WNT3","WNT7B","WT1","XRCC2","XYLT2","YAP1","YME1L1","ZEB2","ZIC1","ZNF408","ZNF699","ZPR1","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APLASIA_HYPOPLASIA_AFFECTING_THE_FUNDUS":{"collection":"C5:HPO","systematicName":"M37172","pmid":"","exactSource":"HP:0008057","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008057","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_AFFECTING_THE_FUNDUS","geneSymbols":["ABCA4","ALDH1A2","ALDH1A3","ANKRD11","AP3D1","APC","ARNT2","ARSL","ASNS","ATAD3A","ATF6","ATOH7","B3GALNT2","BLOC1S3","BLOC1S5","CACNA1C","CACNA1F","CASK","CDC42BPB","CDON","CENPF","CEP85L","CFAP418","CHN1","CNGA3","CNGB3","COL18A1","COL25A1","CRPPA","DCT","DDHD2","DNMT3A","DPYD","EBP","ELOVL4","EPG5","ERF","EXOC2","FANCB","FANCI","FDFT1","FGFR1","FKRP","FKTN","FOXA2","FOXC1","FZD4","GATAD2B","GDF3","GDF6","GLI2","GLYCTK","GMPPB","GNAT2","GNPAT","GPR143","GPR161","GRIA4","HESX1","HMX1","HNRNPK","HNRNPU","HPS4","HPS5","HPS6","IFT74","IKBKG","KCNK4","KIF14","KIF21A","KNSTRN","LAMB2","LARGE1","LHX3","LHX4","LYST","MACF1","MAF","MAFB","MAP2K2","MBTPS2","MC1R","MED12","MEF2C","MPDZ","MTSS2","MYO5A","NDE1","NDP","NEFL","NEU1","NFIX","NR2F1","OCA2","OTUD5","OTX2","PAX6","PDE6C","PDE6H","PHOX2A","PIK3CD","PLXNA1","POGZ","POLR3A","POMGNT1","POMK","POMT1","POMT2","POU1F1","PPP1CB","PPP2R1A","PROKR2","PROM1","PROP1","PRPH2","PRPS1","PRR12","PTF1A","PTPN23","PUF60","RECQL4","RFX7","RNF113A","RNF135","ROBO1","RPGR","RSPO2","RTTN","SALL4","SCN8A","SETD2","SIX6","SLC24A5","SLC25A19","SLC38A8","SLC45A2","SNAP29","SON","SOX2","SOX3","SPOP","SRD5A3","STAG2","TRIM44","TRIT1","TUBA1A","TUBA8","TUBB2B","TUBB3","TYR","UGP2","WDR11","WNT3","WT1","YME1L1","ZIC1","ZPR1","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APLASIA_HYPOPLASIA_OF_THE_OPTIC_NERVE":{"collection":"C5:HPO","systematicName":"M37173","pmid":"","exactSource":"HP:0008058","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008058","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_OPTIC_NERVE","geneSymbols":["ALDH1A2","ALDH1A3","ANKRD11","APC","ARNT2","ARSL","ASNS","ATAD3A","B3GALNT2","CACNA1C","CASK","CDC42BPB","CDON","CENPF","CEP85L","CHN1","COL25A1","CRPPA","DDHD2","DNMT3A","ERF","EXOC2","FANCB","FANCI","FDFT1","FGFR1","FKRP","FKTN","FOXA2","GATAD2B","GDF3","GDF6","GLI2","GLYCTK","GMPPB","GNPAT","GPR161","GRIA4","HESX1","HNRNPK","HNRNPU","IFT74","KCNK4","KIF14","KIF21A","KNSTRN","LARGE1","LHX3","LHX4","MACF1","MAFB","MAP2K2","MBTPS2","MED12","MEF2C","NDE1","NEFL","NFIX","NR2F1","OTUD5","OTX2","PAX6","PHOX2A","PIK3CD","PLXNA1","POGZ","POLR3A","POMGNT1","POMK","POMT1","POMT2","POU1F1","PPP1CB","PPP2R1A","PROKR2","PROP1","PRPS1","PTF1A","PTPN23","PUF60","RECQL4","RFX7","RNF113A","RNF135","ROBO1","RSPO2","RTTN","SALL4","SCN8A","SETD2","SIX6","SNAP29","SON","SOX2","SOX3","SPOP","SRD5A3","STAG2","TRIT1","TUBA1A","TUBA8","TUBB2B","TUBB3","WDR11","WNT3","WT1","YME1L1","ZIC1","ZPR1","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APLASIA_HYPOPLASIA_OF_THE_FOVEA":{"collection":"C5:HPO","systematicName":"M47130","pmid":"","exactSource":"HP:0008060","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008060","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_FOVEA","geneSymbols":["AP3D1","ATF6","BLOC1S3","BLOC1S5","CACNA1F","CFAP418","CNGA3","CNGB3","DCT","GDF3","GDF6","GNAT2","GPR143","HPS4","HPS5","IKBKG","MC1R","MTSS2","NEU1","OCA2","PAX6","PDE6C","PDE6H","PRR12","RPGR","SLC24A5","SLC25A19","SLC38A8","SLC45A2","TYR","UGP2","WT1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APLASIA_HYPOPLASIA_OF_THE_RETINA":{"collection":"C5:HPO","systematicName":"M37174","pmid":"","exactSource":"HP:0008061","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008061","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_RETINA","geneSymbols":["ABCA4","AP3D1","ATF6","ATOH7","BLOC1S3","BLOC1S5","CACNA1F","CFAP418","CNGA3","CNGB3","COL18A1","DCT","DPYD","EBP","ELOVL4","EPG5","FOXC1","FZD4","GDF3","GDF6","GNAT2","GPR143","HMX1","HPS4","HPS5","HPS6","IKBKG","LAMB2","LYST","MAF","MC1R","MPDZ","MTSS2","MYO5A","NDP","NEU1","OCA2","PAX6","PDE6C","PDE6H","POMGNT1","PROM1","PRPH2","PRR12","RPGR","SLC24A5","SLC25A19","SLC38A8","SLC45A2","TRIM44","TYR","UGP2","WT1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APLASIA_HYPOPLASIA_AFFECTING_THE_ANTERIOR_SEGMENT_OF_THE_EYE":{"collection":"C5:HPO","systematicName":"M37175","pmid":"","exactSource":"HP:0008062","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008062","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_AFFECTING_THE_ANTERIOR_SEGMENT_OF_THE_EYE","geneSymbols":["ADAMTS10","ADAMTSL1","B9D1","B9D2","BAZ1B","BCL7B","BDNF","BRCA1","BRCA2","BRIP1","BTRC","BUD23","CC2D2A","CEP290","CHN1","CLIP2","COL2A1","COL4A1","CPAMD8","CPLX1","CSPP1","CTBP1","DIS3L2","DLST","DLX5","DLX6","DNAJC30","EIF4H","ELN","ELP4","EPS15L1","ERCC4","ERCC6","FAM111A","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FBN1","FBXW11","FBXW4","FGF3","FGFR1","FGFRL1","FH","FKBP6","FOXC1","FOXE3","GPC3","GTF2I","GTF2IRD1","GTF2IRD2","H19","HHAT","HMX1","HS2ST1","IGF1R","ITPR1","KIF1B","LAMB2","LDHD","LETM1","LIMK1","LMX1B","LRP2","LTBP2","MAD2L2","MAFB","MAX","MDH2","METTL27","MIR184","MITF","MKS1","MLXIPL","MT-CYB","NCF1","NDP","NF1","NSD2","PALB2","PAX3","PAX6","PIK3R1","PITX2","PORCN","POU6F2","PRR12","RAD51","RAD51C","REST","RET","RFC2","RFWD3","RPGRIP1","RPGRIP1L","SALL4","SDHA","SDHAF2","SDHB","SDHC","SDHD","SEM1","SLC25A11","SLX4","SOX10","STIM1","STX1A","TBL2","TCTN1","TCTN2","TCTN3","TMEM107","TMEM127","TMEM216","TMEM231","TMEM237","TMEM270","TMEM67","TONSL","TP63","TRIM28","TRIM44","TRIP13","TXNDC15","UBE2T","VHL","VPS37D","VSX1","WDR73","WNT10B","WT1","XRCC2","XYLT2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APLASIA_HYPOPLASIA_OF_THE_LENS":{"collection":"C5:HPO","systematicName":"M37176","pmid":"","exactSource":"HP:0008063","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008063","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_LENS","geneSymbols":["ADAMTS10","COL2A1","CPAMD8","FBN1","FBXW11","FGF3","FOXE3","HMX1","LMX1B","LTBP2","MT-CYB","NDP","PRR12","TONSL","XYLT2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ICHTHYOSIS":{"collection":"C5:HPO","systematicName":"M37177","pmid":"","exactSource":"HP:0008064","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008064","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ICHTHYOSIS","geneSymbols":["AARS1","ABCA12","ABHD5","AHSG","ALDH3A2","ALOX12B","ALOXE3","ANOS1","AP1B1","AP1S1","ARSL","ASPRV1","BRAF","CARD14","CARMIL2","CARS1","CCDC141","CERS3","CHD7","CHKB","CLDN1","COL4A5","CSTA","CWC27","CYP4F22","DCC","DNAJC21","DOLK","DSG1","DSP","DUSP6","EBP","EFL1","ELOVL1","ELOVL4","EMD","ERCC2","ERCC3","FEZF1","FGF17","FGF8","FGFR1","FHL1","FITM2","FLG","FLRT3","GBA1","GINS1","GJB2","GJB6","GNB2","GTF2E2","GTF2H5","HESX1","HRAS","HS6ST1","IL17RD","IL2RB","ITGB6","KANSL1","KDSR","KRAS","KRT1","KRT10","KRT16","KRT2","KRT9","LIPN","LMNA","LORICRIN","LSS","MAP2K1","MAP2K2","MARS1","MBTPS2","MPDU1","MPLKIP","MSMO1","NDNF","NEK9","NIPAL4","NLRP3","NOD2","NRAS","NSDHL","ORAI1","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PEX7","PHGDH","PHYH","PIGA","PIGL","PNPLA1","PNPLA2","POMP","PROK2","PROKR2","PSAT1","RIN2","RNF113A","SBDS","SDR9C7","SEMA3A","SGPL1","SHOC2","SLC27A4","SLC29A3","SLURP1","SMARCA2","SNAP29","SOX10","SPINK5","SPRY4","SRD5A3","SREBF1","SRP54","ST14","STIM1","STS","SULT2B1","SUMF1","SYNE1","SYNE2","TACR3","TARS1","TGM1","TGM5","TMEM43","TMPRSS6","VIPAS39","VPS33B","WDR11"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APLASIA_HYPOPLASIA_OF_THE_SKIN":{"collection":"C5:HPO","systematicName":"M37178","pmid":"","exactSource":"HP:0008065","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008065","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_SKIN","geneSymbols":["ABCC6","ABL1","ACD","ADA2","ADAMTS2","ADAMTSL2","ADNP","AEBP1","AIP","ALDH18A1","ALG9","ALX4","ANAPC1","ANTXR2","ARF1","ARFGEF2","ARHGAP31","ARL6IP6","ARMC5","ATM","ATP6V1B2","ATRX","B3GALT6","B4GALT7","BGN","BMS1","BRAF","C1R","C1S","CARMIL2","CAV1","CDH1","CDH23","CDKN2A","CHRNG","CHST14","CHUK","COL12A1","COL17A1","COL1A1","COL1A2","COL3A1","COL5A1","COL5A2","COL6A1","COL6A2","COL6A3","COL7A1","COPB1","COX7B","CPLX1","CTBP1","CTC1","CTNNB1","CTSC","CUL4B","DDB2","DDR2","DHCR24","DHX30","DKC1","DLG4","DLL4","DOCK6","DSE","DSP","DST","EDA","EDAR","EDARADD","ENPP1","EOGT","ERCC2","ERCC3","ERCC4","ERCC5","ERCC6","ERMARD","FBN1","FERMT1","FGFRL1","FKBP14","FLNA","FMR1","GNA11","GNAS","GORAB","GSN","HCCS","HSPA9","IFT140","IPO8","ITGA6","ITGB4","KCTD1","KDF1","KLHL24","KRAS","KRT14","KRT2","KRT5","LAMA3","LAMB3","LAMC2","LETM1","LIFR","LMNA","LOX","LRP1","LSS","MAP1B","MCTP2","MGP","MMP1","MSX2","MTAP","MVK","MYH3","NDUFB11","NEDD4L","NELFA","NFIX","NHP2","NOP10","NOTCH1","NPM1","NR3C1","NSD2","ORC1","PARN","PDE11A","PDGFRB","PEPD","PIGG","PIK3R1","PLEC","PLOD1","PMVK","POLD1","POLH","POLR3A","PORCN","PPARG","PPP1CB","PRKAR1A","PRKD1","PROC","PROS1","PTDSS1","PYCR1","RBCK1","RBPJ","RECQL","RECQL4","RTEL1","SATB2","SLC29A3","SLC2A10","SLC39A13","SMAD2","SMAD3","SMARCAD1","SMO","SOX18","SPEN","TAF1","TCIRG1","TERC","TERT","TFAP2A","TGFB2","TGFBR1","TGFBR2","TINF2","TMTC3","TNFRSF11A","TNXB","TP53","TP63","TRAF6","TWIST2","TYMS","UBA2","UBE3B","UBR1","USB1","USP48","USP8","WNT10A","WRAP53","WRN","XPA","XPC","ZMPSTE24","ZNRF3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_BLISTERING_OF_THE_SKIN":{"collection":"C5:HPO","systematicName":"M37179","pmid":"","exactSource":"HP:0008066","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008066","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BLISTERING_OF_THE_SKIN","geneSymbols":["ANAPC1","AQP5","ASXL1","BLM","BRAF","C4A","CAST","CASZ1","CBL","CCR1","CD151","CDSN","CLCN7","CLTRN","COL17A1","COL2A1","COL7A1","CPOX","CSTA","CTC1","CYP26C1","DKC1","DSC3","DSG1","DSG3","DSP","DST","ECM1","ERAP1","EXPH5","FAS","FBXO28","FERMT1","FOXP3","GABRD","GATA1","GJA1","GJB3","GJB4","HLA-B","HLA-DQB1","HLA-DRB1","HSPG2","IFNGR1","IKBKG","IKZF1","IL10","IL12A","IL12A-AS1","IL23R","ITGA3","ITGA6","ITGB4","JUP","KCNAB2","KDSR","KIT","KLHL24","KLRC4","KRT1","KRT10","KRT14","KRT16","KRT17","KRT2","KRT5","KRT6A","KRT6B","KRT9","LAMA3","LAMB3","LAMC2","LUZP1","MEFV","MMP1","MMP23B","NAXD","NHP2","NOP10","NPM1","PARN","PDPN","PKP1","PLEC","PPOX","PRDM16","PRKCZ","RECQL4","RERE","RTEL1","RUNX1","SKI","SLC39A4","SLC6A19","SMARCAD1","SNX10","SPEN","SRSF2","STAT4","TCIRG1","TERC","TERT","TET2","TGM5","TINF2","TLR4","TNFSF11","TYMS","UBAC2","UBE4B","UROD","UROS","USB1","WRAP53"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALLY_LAX_OR_HYPEREXTENSIBLE_SKIN":{"collection":"C5:HPO","systematicName":"M37180","pmid":"","exactSource":"HP:0008067","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008067","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALLY_LAX_OR_HYPEREXTENSIBLE_SKIN","geneSymbols":["AARS1","ABCC6","ACD","ADAMTS2","ADAMTSL2","AEBP1","AKT3","ALDH18A1","ALG12","ALG8","ANTXR1","ASXL1","ATP6AP1","ATP6AP2","ATP6V0A2","ATP6V1A","ATP6V1E1","ATP7A","B3GALT6","B3GAT3","B4GALT1","B4GALT7","BAZ1B","BCL11B","BCL7B","BRAF","BUD23","C1R","C1S","CD96","CDK13","CEP55","CFTR","CHST14","CHST3","CLIP2","COG7","COL12A1","COL1A1","COL1A2","COL3A1","COL5A1","COL5A2","CSPP1","CSTA","DKC1","DLK1","DNAJC30","DSE","EBP","EED","EFEMP2","EHMT1","EIF4H","ELN","ENPP1","EXT1","EZH2","FBLN5","FBN1","FGD1","FGF20","FGFR2","FGFR3","FIG4","FKBP14","FKBP6","FLNA","FOXC1","GATA1","GBA1","GGCX","GNB2","GORAB","GPX4","GSN","GTF2I","GTF2IRD1","GTF2IRD2","H1-4","H4C5","HPGD","HRAS","IARS1","IFT140","IFT43","INSR","IPO8","KIAA0586","KMT2C","KRAS","LIMK1","LTBP1","LTBP4","LZTR1","MAN1B1","MAP2K1","MAP2K2","MAPRE2","MEG3","MEGF8","METTL27","MLXIPL","MRAS","MRPS16","MRPS22","NAA10","NBAS","NCF1","NDUFB10","NDUFB11","NEPRO","NPR2","NSD1","OTUD5","PARN","PAX2","PDGFRB","PEX1","PIK3R1","PITX2","PLOD1","PRDM5","PRMT7","PTDSS1","PTEN","PTPN11","PUF60","PYCR1","RAD21","RAF1","RFC2","RIN2","RIT1","RPS6KA3","RTEL1","RTL1","SH3PXD2B","SHOC2","SKI","SLC25A24","SLC26A2","SLC2A10","SLC39A13","SLC6A8","SLC7A7","SMARCA2","SMARCD2","SON","SPINT2","SRD5A3","STX1A","SUZ12","TBL1XR1","TBL2","TBX15","TERT","TGFB2","TGM5","TINF2","TMEM270","TNXB","TRAF7","TRPS1","TUBB","TWIST2","VAC14","VPS37D","WDR19","WDR35","WDR37","WDR81","WLS","XYLT1","XYLT2","YY1","ZNF469"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NEOPLASM_OF_THE_SKIN":{"collection":"C5:HPO","systematicName":"M37181","pmid":"","exactSource":"HP:0008069","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008069","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_SKIN","geneSymbols":["AAGAB","AARS1","AKT1","ALX3","ANAPC1","ANGPT2","AP3D1","APC","ATP2A2","ATR","BAP1","BLM","BLNK","BMPR1A","BRAF","BRD4","CARMIL2","CARS1","CASP10","CD28","CD4","CD79A","CD79B","CDK4","CDKN1B","CDKN2A","CIB1","COL14A1","COL17A1","COL1A1","COL7A1","COQ6","CREBBP","CTLA4","CTNNB1","CTSC","CXCR4","CYLD","DCLRE1C","DDB2","DICER1","DKC1","DOCK8","ECM1","EP300","EPCAM","ERCC2","ERCC3","ERCC4","ERCC5","FAN1","FAS","FASLG","FCN3","FDPS","FERMT1","FGFR1","FH","FLCN","FLT4","FOXE1","GATA1","GATA2","GJA1","GJB2","GJB3","GJB4","GJB6","GJC2","GNA14","GNAS","GPR143","GTF2E2","GTF2H5","HPGD","HRAS","IFNG","IGHM","IGLL1","IKBKG","IL6","IL7","ING1","IVNS1ABP","KDSR","KEAP1","KIT","KLLN","KRAS","KRT14","KRT16","KRT17","KRT5","KRT6A","KRT6B","LAMA3","LAMB3","LAMC2","LMNA","LRP1","LRRC8A","LZTR1","MAD1L1","MBTPS2","MC1R","MEN1","MITF","MLH1","MLH3","MMP1","MPLKIP","MSH2","MSH3","MSH6","MVD","MVK","NAF1","NF1","NF2","NLRP1","NOTCH3","NRAS","NTHL1","NUTM1","OCA2","OCRL","PDE11A","PDGFB","PDGFRB","PERP","PIEZO1","PIK3CA","PIK3R1","PLCD1","PMS1","PMS2","POFUT1","POGLUT1","POLH","PORCN","PRKAR1A","PRKCD","PSENEN","PTCH1","PTCH2","PTEN","RASA1","RASGRP1","RECQL4","RHOH","RMRP","RNF113A","RPS19","RPS20","RSPO1","SASH1","SASH3","SDHB","SDHC","SDHD","SEC23B","SEMA4A","SLC17A9","SLC39A7","SLC45A2","SLCO2A1","SLX4","SMARCAD1","SMARCB1","SMARCE1","SMO","SNAI2","SPI1","SPRED1","SPTBN1","STAT1","STIM1","STK11","STK4","SUFU","TARS1","TCF3","TERC","TERT","TGFBR2","TINF2","TMC6","TMC8","TNFRSF10B","TNFRSF1B","TNFRSF4","TOM1","TP53","TPP2","TRAF7","TRPV3","TSC1","TSC2","TYMS","TYR","UROS","USF3","WNT10A","WRN","XPA","XPC"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SPARSE_HAIR":{"collection":"C5:HPO","systematicName":"M37182","pmid":"","exactSource":"HP:0008070","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008070","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPARSE_HAIR","geneSymbols":["AARS1","ABCA12","ACD","ADAMTS3","ADNP","AHSG","ALDH18A1","ALDH6A1","ALOX12B","ALOXE3","ALX1","ALX4","ANAPC1","ANOS1","ANTXR1","AP1B1","APC2","APCDD1","AR","ARHGAP31","ARID1A","ARID1B","ARID2","ASPRV1","ASXL3","ATP2B1","ATP6V0A2","ATP6V1A","ATP6V1E1","ATP7A","ATR","ATRIP","ATRX","AXIN2","AXL","B3GALT6","B4GALT7","BANF1","BCORL1","BICRA","BLM","BMP15","BNC1","BRAF","BRCA1","BRF1","C18orf32","C3orf52","CACNA1C","CACNA1G","CAMK2B","CANT1","CARS1","CAV1","CBL","CBS","CCBE1","CCDC141","CDC42BPB","CDH1","CDH23","CDH3","CDSN","CENPE","CENPJ","CEP152","CEP57","CHD7","CKAP2L","CLDN1","CLMP","COL11A1","COL17A1","CREBBP","CRIPT","CSGALNACT1","CST6","CTC1","CTSC","CWC27","CYB5A","CYP17A1","CYP4F22","DCAF17","DCLRE1B","DHX37","DKC1","DLL4","DLX4","DMRT3","DNA2","DNAJC21","DNMT3A","DOCK6","DOLK","DPF2","DPH1","DPH2","DPH5","DSC3","DSG1","DSG4","DSP","DUSP6","EBP","EDA","EDA2R","EDAR","EDARADD","EDNRA","EIF5A","EOGT","EPS8L3","ERCC2","ERCC3","ERCC6","ERCC8","ESCO2","EXOSC2","EXT1","EXT2","EZH2","FAM111B","FAS","FAT4","FEZF1","FGF17","FGF8","FGFR1","FIG4","FLNA","FMR1","FOXL2","FRMD4A","FSHB","FSHR","GATA4","GATAD2B","GJA1","GJB2","GJB6","GNB2","GNPTAB","GNRH1","GNRHR","GSN","GTF2E2","GTF2H5","GTPBP2","H3-3B","HDAC4","HLA-DRA","HOXC13","HPD","HR","HRAS","HRURF","HS6ST1","HSPA9","IFT122","IFT140","IFT43","IFT52","IGF1R","IKBKG","IPO8","IRX5","ITGA3","ITGB4","ITGB6","JUP","KANK2","KAT6B","KCTD1","KDF1","KDM1A","KDM4B","KIFBP","KISS1","KISS1R","KLHL24","KMT2B","KMT2D","KRAS","KREMEN1","KRT17","KRT25","KRT71","KRT74","KRT81","KRT83","KRT85","KRT86","LAMA3","LAMB3","LAMC2","LHB","LIFR","LIG4","LIPH","LIPN","LMNA","LPAR6","LSS","LTV1","MAF","MAP2K1","MAP2K2","MAP3K1","MAPKAPK5","MARS1","MBTPS2","MDM2","MED12","MED25","MESD","MGAT2","MPLKIP","MRPS22","MSH4","MSX1","MTX2","NDUFA6","NECTIN1","NECTIN4","NEPRO","NF1","NFIX","NFKBIA","NHLH2","NHP2","NIPAL4","NOP10","NOTCH1","NPM1","NR0B1","NR3C1","NR5A1","NRAS","NSD1","NSMF","NSRP1","NSUN2","NTRK1","NUP107","NUP85","OCRL","ODC1","OFD1","ORC6","PARN","PCGF2","PCNT","PDGFRB","PERP","PHF6","PI4KA","PIGL","PIK3R1","PKP1","PLK4","PNPLA6","POC1A","POGZ","POLR3A","POLR3H","POP1","PORCN","PPP1CB","PPP1R15B","PPP2R3C","PQBP1","PRIM1","PRKD1","PRMT7","PROK2","PROKR2","PRPS1","PSMB8","PSMC3IP","PTDSS1","PTPN22","PYCR1","RAD21","RBBP8","RBPJ","RECQL4","RIN2","RIPK4","RMRP","RNF113A","RNU12","RNU4ATAC","RPL21","RTEL1","SATB2","SDR9C7","SEC23A","SEMA3E","SETD2","SF3B4","SHOC2","SKIC2","SKIC3","SLC25A24","SLC7A7","SMAD4","SMARCA2","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SNRPE","SOX11","SOX18","SOX4","SOX9","SPIDR","SPINK5","SPRED2","SPRTN","SPRY4","SRA1","SREBF1","SRY","ST14","STING1","SULT2B1","TAC3","TACR3","TAF1","TARS1","TBX3","TCOF1","TERC","TERT","TFAP2A","TGM1","THUMPD1","TINF2","TMEM147","TOGARAM1","TP53","TP63","TRAF6","TRAIP","TRMT10A","TRPS1","TRPV3","TSPEAR","TSR2","TTC7A","TWIST2","TYMS","UBA2","UBE3B","UBR1","USB1","USP48","USP8","VAC14","VAMP7","WDR11","WDR19","WDR35","WLS","WNT10A","WNT10B","WRAP53","WRN","WT1","WWOX","XRCC4","XYLT1","ZBTB20","ZFPM2","ZMPSTE24","ZSWIM7"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HALLUX_VARUS":{"collection":"C5:HPO","systematicName":"M47131","pmid":"","exactSource":"HP:0008080","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008080","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HALLUX_VARUS","geneSymbols":["CHST11","FGF9","FGFR1","FGFR2","HOXA13"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PES_VALGUS":{"collection":"C5:HPO","systematicName":"M37185","pmid":"","exactSource":"HP:0008081","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008081","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PES_VALGUS","geneSymbols":["ANO1","BAG3","BSCL2","CACNA1C","CAPN1","CDC42BPB","COL12A1","COL6A1","COL6A2","COL6A3","COL9A3","FBN1","FLNA","GABRA1","GABRG2","GARS1","GDF5","GNB2","H4C5","HK1","HNRNPR","KDELR2","LARGE1","LONP1","MAP3K7","MAPK8IP3","MBD5","MYMX","MYPN","PCDH19","PIGG","PPP1R15B","PUF60","RAI1","REEP1","RFT1","SCN1A","SCN1B","SCN2A","SCN4A","SCN9A","SH3TC2","SLC16A2","SMG9","SMOC1","SPRED2","SYT1","TCF4","TOR1A","TPM2","TPM3","TRIP4","TRMT10A","WAC","WDR19"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_FIFTH_METATARSAL_BONE":{"collection":"C5:HPO","systematicName":"M43345","pmid":"","exactSource":"HP:0008089","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008089","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_FIFTH_METATARSAL_BONE","geneSymbols":["CDC42BPB","FLNA","GNAS","HEPHL1","HOXD13","IQCE","RIPK4","TCF4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SHORT_4TH_TOE":{"collection":"C5:HPO","systematicName":"M47132","pmid":"","exactSource":"HP:0008093","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008093","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_4TH_TOE","geneSymbols":["ADNP","COX4I1","SVBP","TBX3","WASF1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_EQUINOVARUS_DEFORMITY":{"collection":"C5:HPO","systematicName":"M37186","pmid":"","exactSource":"HP:0008110","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008110","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EQUINOVARUS_DEFORMITY","geneSymbols":["ATP6V1B2","COL25A1","ERCC6","ERGIC1","FARS2","HADHA","HADHB","LMX1B","PMP22","SCYL2","SLC26A2","TBC1D24","VPS13A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DEFORMED_TARSAL_BONES":{"collection":"C5:HPO","systematicName":"M37187","pmid":"","exactSource":"HP:0008119","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008119","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEFORMED_TARSAL_BONES","geneSymbols":["ADAMTSL1","ATP6AP2","COL1A2","ECEL1","EZH2","GDF5","HOXD10","KANSL1","MET","NALCN","PHGDH","TNNI2","TPM2","ZEB2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_EQUINUS_CALCANEUS":{"collection":"C5:HPO","systematicName":"M37188","pmid":"","exactSource":"HP:0008138","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008138","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EQUINUS_CALCANEUS","geneSymbols":["AEBP1","FBN1","GJB2","GJB6","HADHA","HADHB","HOXD10","SYT1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_IMPAIRED_EPINEPHRINE_INDUCED_PLATELET_AGGREGATION":{"collection":"C5:HPO","systematicName":"M43346","pmid":"","exactSource":"HP:0008148","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008148","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRED_EPINEPHRINE_INDUCED_PLATELET_AGGREGATION","geneSymbols":["CALR","GFI1B","ITGA2B","ITGB3","MYH9","PLAU","RASGRP2","SH2B3","THPO"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PERIODIC_HYPOKALEMIC_PARESIS":{"collection":"C5:HPO","systematicName":"M37189","pmid":"","exactSource":"HP:0008153","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008153","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERIODIC_HYPOKALEMIC_PARESIS","geneSymbols":["CA2","CACNA1S","CDH23","GABRA3","KCNE3","KCNJ18","KCNJ2","KCNJ5","SCN4A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MUCOPOLYSACCHARIDURIA":{"collection":"C5:HPO","systematicName":"M47133","pmid":"","exactSource":"HP:0008155","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008155","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MUCOPOLYSACCHARIDURIA","geneSymbols":["ARSB","ARSK","COL2A1","FUCA1","GALNS","GLB1","GNPTAB","GNPTG","GNS","GUSB","HGSNAT","IDS","IDUA","NAGLU","NGLY1","PIK3C2A","RMRP","SGSH","SUMF1","TRPV4","VPS33A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DECREASED_CIRCULATING_CORTISOL_LEVEL":{"collection":"C5:HPO","systematicName":"M37190","pmid":"","exactSource":"HP:0008163","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008163","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_CIRCULATING_CORTISOL_LEVEL","geneSymbols":["AAAS","ABCD1","AKT1","BAP1","CYP11A1","CYP11B1","CYP17A1","GATB","GATC","GLI3","HSD3B2","MC2R","MRAP","NF2","NFKB2","NNT","NR0B1","PCSK1","PDGFB","PIK3CA","POMC","POR","QRSL1","ROBO1","SERPINA6","SMARCB1","SMARCE1","SMO","STAR","SUFU","TBX19","TERT","TRAF7","TXNRD2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_VERY_LONG_CHAIN_FATTY_ACID_ACCUMULATION":{"collection":"C5:HPO","systematicName":"M37191","pmid":"","exactSource":"HP:0008167","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008167","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VERY_LONG_CHAIN_FATTY_ACID_ACCUMULATION","geneSymbols":["ABCD1","ACBD5","ACOX1","HSD17B4","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PNPLA2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_REDUCED_FACTOR_VII_ACTIVITY":{"collection":"C5:HPO","systematicName":"M45426","pmid":"","exactSource":"HP:0008169","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008169","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_FACTOR_VII_ACTIVITY","geneSymbols":["AHCY","F7","GGCX","SLC37A4","VKORC1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MILDLY_ELEVATED_CREATINE_KINASE":{"collection":"C5:HPO","systematicName":"M37192","pmid":"","exactSource":"HP:0008180","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008180","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MILDLY_ELEVATED_CREATINE_KINASE","geneSymbols":["ACTA1","ADSS1","ALG2","BIN1","CACNA1S","CHCHD10","COL12A1","COL25A1","COL6A1","COL6A2","COL6A3","COL9A3","CRPPA","DNM2","DOK7","ERGIC1","FKRP","FKTN","FLNC","GABRA3","GFPT1","GNE","HADH","HNRNPA1","KBTBD13","KCNE3","KCNJ18","KLHL41","LMNA","MATR3","MEGF10","MICU1","MPV17","MSTO1","MT-TE","MT-TL1","MT-TL2","MT-TN","MT-TS1","MTMR14","MYF6","MYH14","MYH7","MYPN","NEB","PEX6","PLEKHG5","POLG","POLRMT","POMT1","QRICH1","RYR1","SCN4A","SCYL2","SQSTM1","TFG","TIA1","TPM2","TPM3","TRIP4","TRMU","TTN","TWNK","UBA1","VCP","YME1L1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABSENCE_OF_SECONDARY_SEX_CHARACTERISTICS":{"collection":"C5:HPO","systematicName":"M37193","pmid":"","exactSource":"HP:0008187","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008187","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENCE_OF_SECONDARY_SEX_CHARACTERISTICS","geneSymbols":["CHD7","CYB5A","CYP11A1","CYP17A1","DHX37","DMRT3","DUSP6","ESR1","FGF17","FGF8","FGFR1","FOXA2","GATA4","GLI2","GNRH1","GNRHR","HESX1","HS6ST1","KISS1","KISS1R","LEP","LEPR","LHX4","MAP3K1","NHLH2","NR0B1","NR5A1","NSMF","OTX2","POLA1","POU1F1","PROK2","PROKR2","PROP1","SOX3","SOX9","SPRY4","SRY","TAC3","TACR3","VAMP7","WDR11","WT1","WWOX","ZFPM2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_THYROID_DYSGENESIS":{"collection":"C5:HPO","systematicName":"M37194","pmid":"","exactSource":"HP:0008188","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008188","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THYROID_DYSGENESIS","geneSymbols":["GLI3","IL6ST","KAT6B","LIFR","NKX2-1","NKX2-5","PAX8"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_THYROID_AGENESIS":{"collection":"C5:HPO","systematicName":"M37195","pmid":"","exactSource":"HP:0008191","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008191","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THYROID_AGENESIS","geneSymbols":["FOXE1","KAT6B","NKX2-1","NKX2-5","PAX8","SLC26A4","TSHR"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PRIMARY_GONADAL_INSUFFICIENCY":{"collection":"C5:HPO","systematicName":"M37196","pmid":"","exactSource":"HP:0008193","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008193","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PRIMARY_GONADAL_INSUFFICIENCY","geneSymbols":["CYB5A","CYP17A1","DHX37","DMRT3","EIF2B1","GATA4","MAP3K1","NR0B1","NR5A1","NSMCE2","SOX9","SRY","VAMP7","WFS1","WT1","WWOX","XRCC4","ZFPM2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABSENCE_OF_PUBERTAL_DEVELOPMENT":{"collection":"C5:HPO","systematicName":"M37197","pmid":"","exactSource":"HP:0008197","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008197","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENCE_OF_PUBERTAL_DEVELOPMENT","geneSymbols":["CHD7","CYP17A1","DCHS1","DHX37","DUSP6","ESR1","FAT4","FGF17","FGF8","FGFR1","GNRH1","GNRHR","HS6ST1","IL17RD","KISS1","KISS1R","LMNA","MAGEL2","NHLH2","NR0B1","NSMF","NUP107","PROK2","PROKR2","RNF216","SIM1","SPRY4","TAC3","TACR3","WDR11","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PRIMARY_HYPERPARATHYROIDISM":{"collection":"C5:HPO","systematicName":"M37198","pmid":"","exactSource":"HP:0008200","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008200","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PRIMARY_HYPERPARATHYROIDISM","geneSymbols":["AP2S1","ARMC5","CASR","CDC73","CDKN1A","CDKN1B","CDKN2B","CDKN2C","GCM2","GNA11","GNAS","MEN1","YY1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_REDUCED_CIRCULATING_PROLACTIN_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M37199","pmid":"","exactSource":"HP:0008202","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008202","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_CIRCULATING_PROLACTIN_CONCENTRATION","geneSymbols":["AKT1","BAP1","DBH","GNAS","HESX1","IGSF1","LHX3","LHX4","NF2","PDGFB","PIK3CA","POU1F1","PROP1","RBM28","SMARCB1","SMARCE1","SMO","SUFU","TERT","TRAF7","TRHR"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PRIMARY_ADRENAL_INSUFFICIENCY":{"collection":"C5:HPO","systematicName":"M37200","pmid":"","exactSource":"HP:0008207","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008207","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PRIMARY_ADRENAL_INSUFFICIENCY","geneSymbols":["AAAS","ABCD1","AIRE","AKT1","BAP1","CYP11A1","CYP11B1","CYP11B2","CYP17A1","GATB","GATC","GLI3","HSD11B2","HSD17B4","HSD3B2","KANSL1","MC2R","MRAP","MRPS7","NF2","NFKB2","NNT","NR0B1","NR3C1","NR3C2","PCSK1","PDGFB","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PIK3CA","POMC","POR","QRSL1","ROBO1","SCNN1A","SCNN1B","SCNN1G","SERPINA6","SMARCB1","SMARCE1","SMO","STAR","SUFU","TBX19","TCTN3","TERT","TRAF7","TXNRD2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PARATHYROID_HYPERPLASIA":{"collection":"C5:HPO","systematicName":"M37201","pmid":"","exactSource":"HP:0008208","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008208","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PARATHYROID_HYPERPLASIA","geneSymbols":["CDKN1A","CDKN1B","CDKN2B","CDKN2C","IFNG","KL","MEN1","RET","TSC1","TSC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PREMATURE_OVARIAN_INSUFFICIENCY":{"collection":"C5:HPO","systematicName":"M37202","pmid":"","exactSource":"HP:0008209","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008209","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PREMATURE_OVARIAN_INSUFFICIENCY","geneSymbols":["AARS2","AGK","AIRE","ANAPC1","ANAPC7","B4GALNT1","BLM","BMP15","BNC1","C14orf39","CASP10","CEP164","CEP290","CHP1","COL25A1","DCAF17","DIAPH2","EIF2B1","EIF2B2","ERAL1","ERCC4","FAS","FASLG","FIGLA","FMR1","FOXL2","FSHR","GALK1","GALT","GGPS1","HFM1","HSF2BP","INVS","IQCB1","LARS2","LMNA","MCM3AP","MCM8","MRPS22","MSH4","NBN","NOBOX","NPHP1","NPHP3","NPHP4","NR5A1","NUP107","PMM2","POF1B","POLG","POLG2","POLR3H","PRKCD","PSMC3IP","RASGRP1","RCBTB1","RIN2","SDCCAG8","SPIDR","STAG3","THOC6","TRAF3IP1","TTI2","TWNK","WDR19","XRCC2","ZFHX4","ZSWIM7"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_GONADOTROPIN_DEFICIENCY":{"collection":"C5:HPO","systematicName":"M37203","pmid":"","exactSource":"HP:0008213","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008213","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GONADOTROPIN_DEFICIENCY","geneSymbols":["CHD7","FGFR1","FSHB","GLI3","LHX3","NKX2-1","PCSK1","POMC"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ADRENAL_HYPERPLASIA":{"collection":"C5:HPO","systematicName":"M37204","pmid":"","exactSource":"HP:0008221","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008221","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ADRENAL_HYPERPLASIA","geneSymbols":["AIRE","ARMC5","ATP6V1B2","ATRX","BRAF","CACNA1D","CDH23","CLCN2","CYP11B1","CYP11B2","CYP17A1","CYP21A2","GNAS","HSD3B2","KCNJ5","NR3C1","PDE8B","POR","PRKACA","STAR","TBC1D24","TP53","USP48","USP8"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FEMALE_INFERTILITY":{"collection":"C5:HPO","systematicName":"M37205","pmid":"","exactSource":"HP:0008222","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008222","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FEMALE_INFERTILITY","geneSymbols":["ASTL","BTG4","C11orf80","CCDC103","CCDC39","CCDC40","CCDC65","CCNO","CDC20","CFAP221","CFAP298","CFAP300","CFAP74","CYP19A1","DNAAF1","DNAAF11","DNAAF2","DNAAF3","DNAAF4","DNAAF5","DNAAF6","DNAH1","DNAH11","DNAH5","DNAH9","DNAI1","DNAI2","DNAJB13","DNAL1","DRC1","FBXO43","FIGLA","FOXJ1","FOXL2","GAS2L2","GAS8","GGPS1","HSF2BP","HYDIN","KPNA7","LRRC56","MCIDAS","MEI1","MOS","MSH4","MSH5","NEK10","NLRP2","NLRP5","NME5","NME8","ODAD1","ODAD2","ODAD3","ODAD4","OFD1","PANX1","PATL2","PGR","POF1B","PRLR","PSMC3IP","REC114","RPGR","RSPH1","RSPH3","RSPH4A","RSPH9","SPAG1","SPEF2","STK36","TLE6","TRIP13","TTC12","TUBB8","WEE2","ZFP36L2","ZMYND10","ZP1","ZP2","ZP3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_COMPENSATED_HYPOTHYROIDISM":{"collection":"C5:HPO","systematicName":"M37206","pmid":"","exactSource":"HP:0008223","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008223","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_COMPENSATED_HYPOTHYROIDISM","geneSymbols":["FOXI1","KCNJ10","NKX2-1","SLC26A4","TANGO2","TG","THRB","TREX1","TSHR"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ANDROGEN_INSUFFICIENCY":{"collection":"C5:HPO","systematicName":"M47134","pmid":"","exactSource":"HP:0008226","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008226","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANDROGEN_INSUFFICIENCY","geneSymbols":["AR","LHB","MAMLD1","PMFBP1","SUN5"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ELEVATED_CIRCULATING_FOLLICLE_STIMULATING_HORMONE_LEVEL":{"collection":"C5:HPO","systematicName":"M37207","pmid":"","exactSource":"HP:0008232","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008232","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELEVATED_CIRCULATING_FOLLICLE_STIMULATING_HORMONE_LEVEL","geneSymbols":["AR","BMPR1B","BNC1","C14orf39","CBX2","CLPP","CNBP","CYB5A","CYP11A1","CYP17A1","DHX37","DIAPH2","DMRT3","ERCC6","ESR2","FANCM","FGD1","FIGLA","FKBP6","FOXL2","GATA4","GCNA","GDF9","HFM1","KISS1R","LHB","MAP3K1","MCM8","MCM9","MRPS22","MSH4","MSH5","NR0B1","NR5A1","NSMCE2","POR","PPP2R3C","PSMC3IP","SHOC1","SOHLH1","SOX9","SPIDR","SRY","STAG3","TP63","VAMP7","WT1","WWOX","XRCC2","ZFPM2","ZMYND15","ZSWIM7"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPOTHALAMIC_HYPOTHYROIDISM":{"collection":"C5:HPO","systematicName":"M37209","pmid":"","exactSource":"HP:0008237","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008237","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOTHALAMIC_HYPOTHYROIDISM","geneSymbols":["AKT1","BAP1","NF2","PDGFB","PIK3CA","SMARCB1","SMARCE1","SMO","SUFU","TERT","TRAF7","TRH"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SECONDARY_GROWTH_HORMONE_DEFICIENCY":{"collection":"C5:HPO","systematicName":"M37210","pmid":"","exactSource":"HP:0008240","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008240","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SECONDARY_GROWTH_HORMONE_DEFICIENCY","geneSymbols":["AIP","AKT1","BAP1","CDH23","GLI3","MEN1","NF2","PDGFB","PIK3CA","SMARCB1","SMARCE1","SMO","SUFU","TERT","TRAF7"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PSEUDOHYPOALDOSTERONISM":{"collection":"C5:HPO","systematicName":"M37211","pmid":"","exactSource":"HP:0008242","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008242","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PSEUDOHYPOALDOSTERONISM","geneSymbols":["CUL3","KLHL3","NR3C2","SCNN1A","WNK1","WNK4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PITUITARY_HYPOTHYROIDISM":{"collection":"C5:HPO","systematicName":"M41358","pmid":"","exactSource":"HP:0008245","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008245","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PITUITARY_HYPOTHYROIDISM","geneSymbols":["AIP","AKT1","ARNT2","BAP1","BRAF","CDH23","CTNNB1","FOXA2","GLI2","GLI3","HESX1","HID1","LEP","LEPR","LHX3","LHX4","MEN1","NF2","OTX2","PCSK1","PDGFB","PIK3CA","POMC","POU1F1","POU3F4","PROP1","RBM28","SMARCB1","SMARCE1","SMO","SOX3","SUFU","TERT","TMEM67","TRAF7","TRHR","TSHB"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_TRANSIENT_NEONATAL_DIABETES_MELLITUS":{"collection":"C5:HPO","systematicName":"M41359","pmid":"","exactSource":"HP:0008255","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008255","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TRANSIENT_NEONATAL_DIABETES_MELLITUS","geneSymbols":["ABCC8","APPL1","BLK","CEL","GCK","HNF1A","HNF4A","HYMAI","INS","KCNJ11","KLF11","NEUROD1","PAX4","PDX1","PLAGL1","ZFP57"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ADRENOCORTICAL_ADENOMA":{"collection":"C5:HPO","systematicName":"M37212","pmid":"","exactSource":"HP:0008256","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008256","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ADRENOCORTICAL_ADENOMA","geneSymbols":["APC","CACNA1S","CDKN1B","CLCN2","CYP11B1","CYP11B2","KCNE3","MEN1","SCN4A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CONGENITAL_ADRENAL_HYPERPLASIA":{"collection":"C5:HPO","systematicName":"M37213","pmid":"","exactSource":"HP:0008258","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008258","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONGENITAL_ADRENAL_HYPERPLASIA","geneSymbols":["CYP11B1","CYP17A1","HSD3B2","POR","STAR"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PANCREATIC_ISLET_CELL_ADENOMA":{"collection":"C5:HPO","systematicName":"M37214","pmid":"","exactSource":"HP:0008261","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008261","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PANCREATIC_ISLET_CELL_ADENOMA","geneSymbols":["CCND1","CDKN1A","CDKN1B","CDKN2B","CDKN2C","KCNJ11","MAFA","MEN1","VHL"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_THYROID_DEFECT_IN_OXIDATION_AND_ORGANIFICATION_OF_IODIDE":{"collection":"C5:HPO","systematicName":"M43347","pmid":"","exactSource":"HP:0008263","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008263","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THYROID_DEFECT_IN_OXIDATION_AND_ORGANIFICATION_OF_IODIDE","geneSymbols":["DUOX2","DUOXA2","IYD","SLC5A5","TG","TPO"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_LIGHT_ADAPTED_ELECTRORETINOGRAM":{"collection":"C5:HPO","systematicName":"M41360","pmid":"","exactSource":"HP:0008275","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008275","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LIGHT_ADAPTED_ELECTRORETINOGRAM","geneSymbols":["ATF6","CACNA1F","CNGA3","CNGB3","GNAT2","KIF3B","OPN1SW","PDE6C","PDE6H","PEX12","RPGR"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_BLOOD_ZINC_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M41361","pmid":"","exactSource":"HP:0008277","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008277","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BLOOD_ZINC_CONCENTRATION","geneSymbols":["COL7A1","IARS1","MMP1","SLC30A2","SLC39A4","SLC39A8","SLC7A7"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CEREBELLAR_CORTICAL_ATROPHY":{"collection":"C5:HPO","systematicName":"M43348","pmid":"","exactSource":"HP:0008278","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008278","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CEREBELLAR_CORTICAL_ATROPHY","geneSymbols":["PLAA","SC5D","SHANK3","SIL1","TWNK","ZPR1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_UNCONJUGATED_HYPERBILIRUBINEMIA":{"collection":"C5:HPO","systematicName":"M37215","pmid":"","exactSource":"HP:0008282","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008282","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UNCONJUGATED_HYPERBILIRUBINEMIA","geneSymbols":["CASK","FARSB","G6PD","GATA1","HBB","KLF1","KMT2D","NHLRC2","PIGA","PKLR","RHAG","SLC10A1","SLC30A10","UGT1A1","UROS"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FASTING_HYPERINSULINEMIA":{"collection":"C5:HPO","systematicName":"M37216","pmid":"","exactSource":"HP:0008283","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008283","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FASTING_HYPERINSULINEMIA","geneSymbols":["CDKN1B","GCK","GLUD1","HADH","INSR","LMNA","MEN1","PAPPA2","YY1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PITUITARY_CORTICOTROPIC_CELL_ADENOMA":{"collection":"C5:HPO","systematicName":"M45427","pmid":"","exactSource":"HP:0008291","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008291","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PITUITARY_CORTICOTROPIC_CELL_ADENOMA","geneSymbols":["ATRX","BRAF","CDH23","CDKN1A","CDKN1B","CDKN2B","CDKN2C","MEN1","NR3C1","TP53","USP48","USP8"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_TRANSIENT_HYPERPHENYLALANINEMIA":{"collection":"C5:HPO","systematicName":"M46134","pmid":"","exactSource":"HP:0008297","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008297","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TRANSIENT_HYPERPHENYLALANINEMIA","geneSymbols":["GCH1","IMPDH2","NR4A2","PCBD1","SPR"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DERMATAN_SULFATE_EXCRETION_IN_URINE":{"collection":"C5:HPO","systematicName":"M46135","pmid":"","exactSource":"HP:0008301","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008301","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DERMATAN_SULFATE_EXCRETION_IN_URINE","geneSymbols":["ARSB","ARSK","GUSB","IDS","IDUA"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_EXERCISE_INDUCED_MYOGLOBINURIA":{"collection":"C5:HPO","systematicName":"M37217","pmid":"","exactSource":"HP:0008305","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008305","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EXERCISE_INDUCED_MYOGLOBINURIA","geneSymbols":["ACADVL","CRPPA","FKRP","LDHA","LPIN1","MT-CO1","MT-CO3","OBSCN","PFKM","PGK1","PHKA1","PYGM"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DECREASED_ACTIVITY_OF_MITOCHONDRIAL_COMPLEX_II":{"collection":"C5:HPO","systematicName":"M37218","pmid":"","exactSource":"HP:0008314","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008314","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_ACTIVITY_OF_MITOCHONDRIAL_COMPLEX_II","geneSymbols":["BOLA3","CHCHD10","FDX2","IBA57","ISCU","MECR","MIEF2","NFS1","NFU1","SDHA","SDHB","SDHD","SLC39A8","UQCC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_MITOCHONDRIA_IN_MUSCLE_TISSUE":{"collection":"C5:HPO","systematicName":"M37219","pmid":"","exactSource":"HP:0008316","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008316","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MITOCHONDRIA_IN_MUSCLE_TISSUE","geneSymbols":["AFG3L2","FOXRED1","MT-ATP6","MT-CO1","MT-CO2","MT-CO3","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND5","MT-ND6","MT-TF","MT-TH","MT-TL1","MT-TL2","MT-TN","MT-TQ","MT-TS1","MT-TS2","MT-TW","MYH7","NDUFA1","NDUFA11","NDUFA6","NDUFAF1","NDUFAF2","NDUFAF3","NDUFAF4","NDUFAF5","NDUFAF8","NDUFB10","NDUFB11","NDUFB3","NDUFB9","NDUFS1","NDUFS2","NDUFS3","NDUFS4","NDUFS6","NDUFS7","NDUFS8","NDUFV1","NDUFV2","NUBPL","SDHA","TIMMDC1","TMEM126B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_IMPAIRED_COLLAGEN_INDUCED_PLATELET_AGGREGATION":{"collection":"C5:HPO","systematicName":"M41362","pmid":"","exactSource":"HP:0008320","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008320","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRED_COLLAGEN_INDUCED_PLATELET_AGGREGATION","geneSymbols":["BLOC1S5","CALR","CISD2","GFI1B","GP6","IKZF5","ITGA2B","ITGB3","LCP2","NBEAL2","SH2B3","THPO"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_MITOCHONDRIAL_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M37220","pmid":"","exactSource":"HP:0008322","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008322","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MITOCHONDRIAL_MORPHOLOGY","geneSymbols":["CHCHD10","CHKB","DNA2","FDXR","FH","FUS","GGPS1","GYG1","HSD17B10","LYRM4","MFF","MGME1","MRPS14","MYH14","PET117","SFXN4","SLC25A3","SPG7","SQSTM1","SUCLG1","TAFAZZIN","TARDBP","TBK1","TMEM126B","VCP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_LIGHT_AND_DARK_ADAPTED_ELECTRORETINOGRAM":{"collection":"C5:HPO","systematicName":"M41363","pmid":"","exactSource":"HP:0008323","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008323","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LIGHT_AND_DARK_ADAPTED_ELECTRORETINOGRAM","geneSymbols":["ACOX1","ADAR","AIPL1","ALG3","BEST1","CACNA1F","CERKL","CLRN1","CYP4V2","GUCY2D","IDH3B","IDS","IMPDH1","LARGE1","LRAT","MCOLN1","MFRP","MT-ATP6","NR2E3","NUP54","NUP62","PCYT1A","PDE6B","POMGNT1","PPT1","PROM1","PRPH2","RDH5","RGR","RHO","RLBP1","RP1","RP9","RPE65","RPGRIP1","SAG","TTC8","USP45","ZNF513"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ELEVATED_CREATINE_KINASE_AFTER_EXERCISE":{"collection":"C5:HPO","systematicName":"M37221","pmid":"","exactSource":"HP:0008331","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008331","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELEVATED_CREATINE_KINASE_AFTER_EXERCISE","geneSymbols":["ACAD9","ALDOA","AMPD1","AMPD3","CACNA1S","CAV3","DNA2","DPM3","LDHA","RYR1","SLC25A20"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DISTAL_RENAL_TUBULAR_ACIDOSIS":{"collection":"C5:HPO","systematicName":"M37222","pmid":"","exactSource":"HP:0008341","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008341","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DISTAL_RENAL_TUBULAR_ACIDOSIS","geneSymbols":["ATP6V0A4","CA2","CLDN16","GATA3","HNF1B","SLC4A1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INCREASED_RED_CELL_SICKLING_TENDENCY":{"collection":"C5:HPO","systematicName":"M46136","pmid":"","exactSource":"HP:0008346","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008346","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_RED_CELL_SICKLING_TENDENCY","geneSymbols":["BCL11A","HBB","HBG1","HBG2","KLF1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DECREASED_ACTIVITY_OF_MITOCHONDRIAL_COMPLEX_IV":{"collection":"C5:HPO","systematicName":"M37223","pmid":"","exactSource":"HP:0008347","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008347","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_ACTIVITY_OF_MITOCHONDRIAL_COMPLEX_IV","geneSymbols":["AARS2","AGK","AIFM1","ATP5F1A","C1QBP","CARS2","CHCHD10","COA3","COA5","COA6","COA8","COX16","COX20","COX4I1","COX5A","COX6A2","CRLS1","DGUOK","EARS2","FBXL4","FLAD1","GATC","GFM1","GFM2","GTPBP3","ISCU","LRPPRC","MECR","MGME1","MIEF2","MPV17","MRM2","MRPL12","MRPS14","MRPS16","MRPS22","MRPS23","MRPS25","MTFMT","MTRFR","NARS2","NDUFA4","NSUN3","PET100","PET117","POLG","PUS1","QRSL1","RARS2","RRM2B","SCO2","SLC25A26","SLC25A4","SLC39A8","SUCLG1","TIMM22","TK2","TRIT1","TRMT5","TSFM","UQCC2","VARS2","YARS2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DECREASED_CIRCULATING_IGG2_LEVEL":{"collection":"C5:HPO","systematicName":"M46137","pmid":"","exactSource":"HP:0008348","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008348","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_CIRCULATING_IGG2_LEVEL","geneSymbols":["ADA","ATM","CD247","CD3G","CTPS1","EPG5","PIK3CD","SH3KBP1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_REDUCED_FACTOR_XIII_ACTIVITY":{"collection":"C5:HPO","systematicName":"M37225","pmid":"","exactSource":"HP:0008357","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008357","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_FACTOR_XIII_ACTIVITY","geneSymbols":["BRAF","F13A1","F13B","MAP2K1","PTPN11","SLC37A4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APLASIA_HYPOPLASIA_OF_THE_HALLUX":{"collection":"C5:HPO","systematicName":"M37226","pmid":"","exactSource":"HP:0008362","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008362","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_HALLUX","geneSymbols":["ABCC9","ACVR1","BHLHA9","BMP2","BMPR1B","CHST11","CHSY1","CPLX1","CTBP1","EIF4A3","FGFR1","FGFR2","FGFRL1","FIG4","FLNA","GDF5","GJA1","GLI3","GPC4","HOXA13","HOXD13","IHH","KAT6A","KCNJ8","LETM1","MAP3K20","MGP","NELFA","NOG","NSD2","PIGG","PTHLH","PUF60","ROBO1","SALL4","TPR","VAC14"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_CALCANEUS":{"collection":"C5:HPO","systematicName":"M37227","pmid":"","exactSource":"HP:0008364","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008364","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_CALCANEUS","geneSymbols":["ADAMTSL1","AEBP1","ATP6AP2","CCDC8","COL1A2","COL2A1","DLK1","DYM","ECEL1","EZH2","FBN1","FLNA","FLNB","GFM2","GJB2","GJB6","HADHA","HADHB","HDAC6","HOXD10","KANSL1","LBR","MEG3","MET","NALCN","OBSL1","PHGDH","RAB33B","RSPRY1","RTL1","SATB2","SYT1","TNNI2","TPM2","ZEB2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_TALUS_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M37228","pmid":"","exactSource":"HP:0008365","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008365","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_TALUS_MORPHOLOGY","geneSymbols":["AARS1","ADAT3","ARID1B","ATPAF2","BAP1","CCDC8","CHRNG","CLTCL1","COASY","COL25A1","CUL7","DOK7","DPH5","EMG1","EN1","EPB41L1","ERCC1","ERCC2","ERCC5","ERCC6","ERGIC1","EXOC7","FGFR2","FIG4","FLNA","GLE1","H4C9","HOXD10","IPO8","KATNB1","KIF14","LMNA","MAF","MAGEL2","MET","MUSK","MYBPC1","MYH3","MYL11","NALCN","NDE1","NUP188","NUP88","OBSL1","OTUD5","PEX1","PHEX","PHGDH","PLAA","POR","PSAT1","PUF60","RBM10","RELN","RSPRY1","SAMD9","SCYL2","SLC29A3","SLC2A10","SMPD4","SOX4","TELO2","TNNI2","TNNT3","TOR1A","TPM2","VAC14","WRN","ZC4H2","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FOOT_JOINT_CONTRACTURE":{"collection":"C5:HPO","systematicName":"M37229","pmid":"","exactSource":"HP:0008366","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008366","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOOT_JOINT_CONTRACTURE","geneSymbols":["ABCC9","ABHD12","ACTA1","ADAT3","ALAD","ALS2","AMER1","ANO5","APC2","ATP5F1D","BCAS3","BCOR","BICD2","BRF1","C18orf32","C19orf12","CAPN3","CAV1","CCN2","CCR6","CHRNG","COL12A1","COL25A1","COL6A1","COL6A2","COL6A3","COL7A1","CRPPA","DAG1","DDHD2","DDR2","DMD","DPM1","DSP","DYRK1A","EIF5A","EMD","ERCC1","ERCC4","ERCC6","ERCC8","ERGIC1","ERLIN2","ESCO2","FBN1","FGFR3","FHL1","FIG4","FKBP10","FKRP","FKTN","FLNA","GJB1","GLI3","GNS","HACD1","HINT1","HLA-DRB1","HRAS","HSPG2","IPO8","IRF5","ITGA7","JAG2","JUP","KCNK9","KIAA0319L","KLHL9","KY","LARGE1","LGI4","LIFR","LMNA","LMX1B","MAP3K20","MARS1","MEGF10","MMP1","MMP2","MT-TE","MYBPC1","MYH3","MYL11","MYL2","MYOT","NEB","NFATC2","NGLY1","NOD2","NSD1","NSUN2","NT5C2","OPA1","ORAI1","PHF6","PI4KA","PIEZO2","PIGN","PLEC","PNPT1","POMT1","PPP2R5D","PRG4","PSAT1","PSMB8","PTRH2","PYROXD1","REEP1","RPL10","RTTN","RYR1","SCARF2","SCN4A","SCYL2","SELENON","SETD2","SGCA","SGCG","SLC12A6","SLC1A4","SLC25A4","SLC29A3","SLC39A14","SPG11","SPTBN4","SVIL","SYNE1","SYNE2","SYT2","TBC1D2B","TGFB3","TMEM43","TNNT1","TOR1AIP1","TPM2","TPM3","TTN","UBA1","UFC1","VARS1","ZC4H2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_TARSAL_SYNOSTOSIS":{"collection":"C5:HPO","systematicName":"M43349","pmid":"","exactSource":"HP:0008368","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008368","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TARSAL_SYNOSTOSIS","geneSymbols":["ATP7A","BMPR1B","CHSY1","FBLN1","FGFR1","FGFR2","FGFR3","FLNA","FLNB","GDF5","GDF6","GLI3","LMBR1","MAP3K7","MKKS","MYH3","NALCN","NOG","OFD1","POR","RNU12","SMOC1","TBX4","TNNI2","TNNT3","TPM2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_TARSAL_OSSIFICATION":{"collection":"C5:HPO","systematicName":"M37230","pmid":"","exactSource":"HP:0008369","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008369","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_TARSAL_OSSIFICATION","geneSymbols":["CANT1","COL2A1","EBP","EIF2AK3","HOXA13","INPPL1","MATN3","PTH1R","SLC35D1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_VITAMIN_A_METABOLISM":{"collection":"C5:HPO","systematicName":"M37231","pmid":"","exactSource":"HP:0008372","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008372","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_VITAMIN_A_METABOLISM","geneSymbols":["APOB","BCO1","CYP7A1","DNAJC21","DZIP1L","EFL1","FARSB","FOCAD","GBA2","GPR35","MST1","MTTP","PKHD1","SBDS","SEMA4D","SLC51B","SRP54","TCF4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PUBERTY_AND_GONADAL_DISORDERS":{"collection":"C5:HPO","systematicName":"M37232","pmid":"","exactSource":"HP:0008373","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008373","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PUBERTY_AND_GONADAL_DISORDERS","geneSymbols":["ABCA4","ABCD1","AGBL5","AGPAT2","AHI1","AHR","AHSG","AIP","AIRE","AKT1","ALDOA","ALG1","ALG6","ALMS1","ALX4","AMACR","ANAPC1","ANK1","ANOS1","ANTXR1","AR","ARHGEF18","ARL2BP","ARL3","ARL6","ARSL","ARX","ASXL3","ATAD3A","ATM","ATP5F1A","ATP5F1D","ATP5F1E","ATP5MK","ATPAF1","ATPAF2","ATRX","AXL","BAP1","BAZ1B","BBIP1","BBS1","BBS10","BBS12","BBS2","BBS4","BBS5","BBS7","BBS9","BCL7B","BCS1L","BEST1","BMP15","BMP2","BMP4","BMP6","BMPR1B","BNC1","BRAF","BRCA1","BRCA2","BRCC3","BRD4","BRIP1","BSCL2","BTK","BUD23","CA4","CAMKMT","CARS1","CASK","CASZ1","CAV1","CAVIN1","CBL","CBX2","CC2D2A","CCDC141","CCDC28B","CDH23","CDHR1","CDKL5","CDKN1C","CDON","CENPT","CEP19","CEP290","CERKL","CFAP418","CHD4","CHD7","CHRNG","CISD2","CLCNKB","CLIP2","CLPP","CLRN1","CNBP","CNGA1","CNGB1","CNTNAP2","COL25A1","COL7A1","COQ2","CPE","CPLX1","CRB1","CREBBP","CRX","CTBP1","CTDP1","CTNNB1","CTNS","CUL4B","CYB5A","CYP11A1","CYP11B1","CYP17A1","CYP19A1","CYP21A2","DACT1","DCAF17","DCC","DCHS1","DDB2","DDX3X","DEAF1","DHCR7","DHDDS","DHH","DHX37","DHX38","DIAPH1","DISP1","DLK1","DLL1","DMPK","DMRT1","DMRT3","DMXL2","DNAJC30","DNAL4","DNM1L","DUSP6","DYRK1A","EHMT1","EIF2B1","EIF2S3","EIF4H","EIF5A","ELN","ENTPD1","EP300","ERCC1","ERCC2","ERCC3","ERCC4","ERCC5","ERCC6","ERCC8","ESR1","EXT2","EYS","FAM111B","FAM161A","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FAT4","FEZF1","FGD1","FGF17","FGF8","FGFR1","FGFRL1","FKBP6","FLI1","FLII","FLRT3","FMR1","FOS","FOXA2","FOXH1","FOXL2","FREM1","FSCN2","FSHB","FSHR","G6PC1","GABRD","GALK1","GALT","GAS1","GATA4","GBA1","GHR","GHSR","GJB2","GLA","GLI2","GLI3","GMNN","GNAO1","GNAS","GNRH1","GNRHR","GPR101","GPR161","GRB10","GRIA1","GRIN1","GRM7","GTF2I","GTF2IRD1","GTF2IRD2","GUCA1B","H4C5","H6PD","HACE1","HAMP","HBB","HDAC8","HERC2","HESX1","HFE","HGSNAT","HJV","HLA-DQA1","HLA-DQB1","HNRNPR","HRAS","HS6ST1","HSD11B1","HSD17B3","HSD3B2","HSPG2","HYMAI","IDH1","IDH2","IDH3A","IDH3B","IER3IP1","IFNG","IFT140","IFT172","IFT27","IFT74","IFT88","IGF1","IGFALS","IL17RD","IMPDH1","IMPG1","IMPG2","INPP5K","INSR","IQSEC2","ITGB6","KANSL1","KCNA1","KCNAB2","KCNQ2","KCNT1","KDM6A","KIAA1549","KIF21A","KISS1","KISS1R","KIZ","KLHL7","KMT2B","KMT2C","KMT2D","KRAS","LAS1L","LEP","LEPR","LETM1","LGR4","LHB","LHCGR","LHX3","LHX4","LIG3","LIMK1","LMNA","LPIN2","LRAT","LRP5","LSS","LUZP1","LZTFL1","LZTR1","MAB21L2","MAD2L2","MAGEL2","MAK","MAMLD1","MAP2K1","MAP3K1","MAP3K7","MC2R","MDM2","MECP2","MEG3","MEN1","MERTK","METTL27","MGME1","MIA3","MKKS","MKRN3","MKS1","MLXIPL","MMP1","MMP14","MMP2","MMP23B","MRAP","MRAS","MRE11","MRPS22","MRPS7","MSH4","MSL3","MSMO1","MT-ATP6","MT-ATP8","MT-CO1","MT-CO2","MT-CO3","MT-ND1","MT-ND4","MT-ND5","MT-ND6","MT-TF","MT-TH","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TW","MYH3","NCF1","NDN","NDNF","NDP","NECTIN1","NEK2","NEUROD2","NF1","NF2","NFIX","NHLH2","NIPBL","NLRP3","NNT","NODAL","NONO","NOTCH2","NPAP1","NPHP1","NR0B1","NR2E3","NR3C1","NR5A1","NRAS","NRL","NSD2","NSMCE2","NSMF","NTN1","NUP107","OCA2","OCRL","OFD1","OPA1","OTX2","PALB2","PAPSS2","PCARE","PCNT","PCSK1","PDE11A","PDE4D","PDE6A","PDE6B","PDE6G","PDGFB","PDPN","PEX1","PEX10","PEX6","PGM1","PHF21A","PHF6","PHGDH","PHKA2","PHKG2","PHOX2A","PIGA","PIGF","PIGP","PIGQ","PIGT","PIK3CA","PLAGL1","PLCB1","PLXND1","PMFBP1","PMM2","PNKP","PNPLA6","POF1B","POLA1","POLD1","POLE","POLG","POLR1C","POLR3A","POLR3B","POLR3GL","POLR3H","POLR3K","POMC","POMGNT1","POR","POU1F1","PPARG","PPM1B","PPP1R15B","PRCD","PRDM13","PRDM16","PREPL","PRKAR1A","PRKCZ","PRLR","PROK2","PROKR2","PROM1","PROP1","PRORP","PRPF3","PRPF31","PRPF4","PRPF6","PRPF8","PRPH2","PSMC3IP","PTCH1","PTCH2","PTDSS1","PTH1R","PTPN11","PTRH2","PUS1","PWAR1","PWRN1","PYGL","RAB18","RAB23","RAB3GAP1","RAB3GAP2","RAD21","RAD51","RAD51C","RAF1","RAI1","RASA2","RBM28","RBP3","RDH12","RECQL4","REEP6","RERE","REV3L","RFC2","RFWD3","RGR","RHO","RIN2","RIT1","RLBP1","RNF216","RNU4ATAC","ROBO1","ROM1","RP1","RP1L1","RP2","RP9","RPE65","RPGR","RPL10","RRAS","RRAS2","RRM2B","RTL1","SAG","SALL1","SAMD9","SCAPER","SCARB2","SCLT1","SCN1A","SCN1B","SCN2A","SCP2","SDCCAG8","SEMA3A","SEMA3E","SEMA4A","SGPL1","SHH","SIK1","SIL1","SIM1","SIX3","SIX6","SKI","SLC12A3","SLC12A5","SLC25A13","SLC25A22","SLC29A3","SLC32A1","SLC35A2","SLC37A4","SLC39A4","SLC3A1","SLC7A14","SLX4","SMAD4","SMARCB1","SMARCE1","SMC1A","SMC3","SMCHD1","SMO","SMPD1","SNAP29","SNORD115-1","SNORD116-1","SNRNP200","SNRPN","SOS1","SOS2","SOX10","SOX11","SOX2","SOX3","SOX6","SOX9","SPATA7","SPEN","SPIDR","SPRED2","SPRTN","SPRY4","SPTBN1","SQSTM1","SRA1","SRCAP","SRY","STAR","STAT1","STAT3","STAT5B","STEAP3","STIL","STK11","STS","STUB1","STX1A","SUFU","SUN5","TAC3","TACR3","TAF13","TANGO2","TBC1D20","TBC1D24","TBL2","TBX3","TCF12","TDGF1","TERT","TFE3","TFR2","TGFB1","TGIF1","TMEM270","TNRC6B","TOM1","TONSL","TOPORS","TP53","TP63","TRAF3IP1","TRAF7","TRIM32","TRIM8","TRIP4","TRMT10A","TSC1","TSC2","TTC8","TUB","TUBA1A","TUBB2B","TUBB3","TULP1","TWNK","TXNRD2","TYMP","UBE2T","UBE4B","USH2A","USP7","USP9X","VAMP7","VPS13B","VPS37D","VPS4A","WDPCP","WDR11","WFS1","WRN","WT1","WWOX","XPA","XPC","XRCC2","XRCC4","YARS2","ZBTB20","ZFPM2","ZIC2","ZMPSTE24","ZNF408","ZNF513","ZNF526","ZSWIM7"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NASAL_DYSARTHIC_SPEECH":{"collection":"C5:HPO","systematicName":"M45428","pmid":"","exactSource":"HP:0008376","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008376","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NASAL_DYSARTHIC_SPEECH","geneSymbols":["GIPC1","GRHL3","LRP12","NOTCH2NLC","RILPL1","SELENOI","UBB"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APLASIA_HYPOPLASIA_OF_THE_NAILS":{"collection":"C5:HPO","systematicName":"M37233","pmid":"","exactSource":"HP:0008386","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008386","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_NAILS","geneSymbols":["AARS1","ACTG2","ACTL6B","ADAMTSL2","AFF4","ALG12","ALG3","ALOX12B","ALOXE3","APC","APC2","ARHGAP31","ARID1A","ARID1B","ARID2","ARX","ATP2A2","ATP6V0A2","ATP6V1B2","B3GALT6","BAZ1B","BCL7B","BCR","BHLHA9","BICRA","BMPER","BUD23","CARS1","CASK","CCDC22","CCDC32","CDH1","CDIN1","CDKL5","CDKN1C","CENPT","CKAP2L","CLIP2","COL11A1","COL11A2","COL17A1","COL7A1","CPT2","CRKL","CTC1","CWC27","DHX37","DKC1","DLK1","DLL4","DMXL2","DNAJC21","DNAJC30","DOCK6","DPF2","DPH1","DPH2","DPYD","DPYSL5","DSP","DYNC2LI1","EED","EIF4H","EIF5A","ELN","EOGT","ERCC2","ERCC3","EVC","EVC2","EZH2","FBXO28","FGFR1","FGFR2","FIG4","FKBP6","FLNB","FRAS1","FTO","GDF5","GJB6","GLI1","GNAO1","GPC3","GPC4","GRHL2","GRIN1","GRM7","GTF2E2","GTF2H5","GTF2I","GTF2IRD1","GTF2IRD2","HEPHL1","HMGA2","HOXA13","HRAS","HUWE1","HYMAI","IFT122","IFT43","IGF2","IHH","IKBKG","INPPL1","ITGB4","JUP","KCNA1","KCNH1","KCNMA1","KCNN3","KDM1A","KIF15","KMT2D","KRT14","KRT5","LAMA3","LAMB3","LAMC2","LIG4","LIMK1","LMNA","LMX1B","LRP4","MAPK1","MBTPS2","MCTP2","MEG3","METTL27","MLXIPL","MMP1","MPLKIP","MSX1","NCF1","NECTIN4","NEPRO","NEUROD2","NHP2","NOG","NOP10","NOTCH1","NOTCH2","NPM1","NPR2","NSD1","NSDHL","NSUN2","ODC1","OTUD5","PARN","PEX2","PGAP2","PGAP3","PIGA","PIGB","PIGF","PIGL","PIGN","PIGO","PIGP","PIGQ","PIGV","PIGW","PIGY","PLAG1","PLAGL1","PLEC","PNKP","POC1A","POLR3A","POP1","PORCN","PPM1D","PPP1CB","PPP2R5D","PRKACA","PRKACB","PRR12","PTDSS1","RAF1","RBBP8","RBPJ","RERE","RFC2","RIPK4","RLIM","RNF113A","ROR2","RPS6KA3","RSPO1","RSPO4","RTEL1","RTL1","SCN1B","SCN2A","SCO2","SET","SETD2","SHANK3","SHOC2","SHOX","SIAH1","SIK1","SLC25A22","SLC25A24","SLC32A1","SLC35D1","SMARCA2","SMARCA4","SMARCAD1","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SOX11","SOX4","SOX9","SPEN","STAMBP","STX1A","SUZ12","TARS1","TBC1D24","TBL2","TBX3","TBX4","TCTN3","TELO2","TERC","TERT","TFAP2A","TINF2","TMEM222","TMEM270","TP63","TRIM8","TRRAP","TSPAN7","TWIST1","TWIST2","TYMS","USB1","VAC14","VPS35L","VPS37D","WASHC5","WDR73","WLS","WNT10A","WNT7A","WRAP53","ZBTB20","ZIC3","ZMPSTE24","ZMYM2","ZNF462"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_TOENAIL_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M37234","pmid":"","exactSource":"HP:0008388","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008388","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_TOENAIL_MORPHOLOGY","geneSymbols":["AFF4","AIP","ANGPT2","APC","ARHGAP31","ARID1A","ARID1B","ARID2","ATP6V1B2","BAZ1B","BCL7B","BCR","BHLHA9","BMP2","BUD23","CKAP2L","CLEC7A","CLIP2","COL11A1","COL17A1","COL7A1","CPT2","CRKL","CSTB","CTC1","DKC1","DLL4","DNAJC30","DOCK6","DPF2","DPH1","DPH2","DSP","DST","DYNC2LI1","EDAR","EDARADD","EED","EIF4H","EIF5A","ELN","EOGT","EVC","EVC2","EZH2","FERMT1","FGFR1","FKBP6","FLT4","FTO","GDF5","GJB2","GJC2","GLI1","GPC4","GPR101","GTF2I","GTF2IRD1","GTF2IRD2","HOXA13","HRAS","IFT122","IFT43","IFT52","IKBKG","IL17F","IL17RA","IL17RC","INPPL1","ITGB4","JUP","KCNH1","KCNN3","KDM1A","KIF11","KIF1A","KLHL24","KRT14","KRT5","KRT74","LIG4","LIMK1","LMNA","LMX1B","LRP4","MAPK1","METTL27","MLXIPL","MSX1","NCF1","NECTIN1","NECTIN4","NHP2","NOG","NOP10","NOTCH1","NPM1","NSD1","NSUN2","ODC1","PARN","PERP","PEX1","PEX6","PIEZO1","PIGF","PLCD1","PORCN","PPP1CB","PPP2R5D","PRKACA","PRKACB","RAB3GAP1","RAB3GAP2","RAB7A","RBPJ","RETREG1","RFC2","RIPK4","RTEL1","RUNX2","SCN9A","SCO2","SET","SHANK3","SHOC2","SHOX","SLC35D1","SMARCA2","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SOX11","SOX4","STX1A","SUZ12","TAF1","TBC1D24","TBL2","TBX3","TBX4","TCTN3","TELO2","TERC","TERT","TINF2","TMEM270","TP63","TRAF3IP2","TYMS","UMPS","USB1","VEGFC","VPS37D","WDR19","WDR35","WLS","WNK1","WNT10A","WNT7A","WRAP53","ZIC3","ZMPSTE24","ZMYM2","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DYSTROPHIC_FINGERNAILS":{"collection":"C5:HPO","systematicName":"M37235","pmid":"","exactSource":"HP:0008391","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008391","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DYSTROPHIC_FINGERNAILS","geneSymbols":["AARS1","BRAF","CARS1","COL17A1","COL7A1","ERCC2","ERCC3","GTF2E2","GTF2H5","HLA-B","HPGD","IL6ST","ITGB4","KIF1A","KRAS","KRT74","LMNA","MAP2K1","MAP2K2","MBTPS2","MPLKIP","NECTIN1","PKP1","RETREG1","RNF113A","RUNX2","SCN9A","STAT3","TARS1","WNK1","WNT10A","ZBTB20","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SUBUNGUAL_HYPERKERATOSIS":{"collection":"C5:HPO","systematicName":"M37236","pmid":"","exactSource":"HP:0008392","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008392","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUBUNGUAL_HYPERKERATOSIS","geneSymbols":["CARD14","JUP","KDF1","KRT14","KRT17","MBTPS2","TRPV3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPOPLASTIC_FIFTH_FINGERNAIL":{"collection":"C5:HPO","systematicName":"M43350","pmid":"","exactSource":"HP:0008398","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008398","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASTIC_FIFTH_FINGERNAIL","geneSymbols":["ARID1A","ARID1B","ARID2","DPF2","PGAP2","PIGF","RBPJ","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SOX11","SOX4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ONYCHOGRYPOSIS_OF_TOENAILS":{"collection":"C5:HPO","systematicName":"M41364","pmid":"","exactSource":"HP:0008401","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008401","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ONYCHOGRYPOSIS_OF_TOENAILS","geneSymbols":["COL7A1","KLHL24","KRT16","KRT17","KRT6A","KRT6B","PLEC"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RIDGED_FINGERNAIL":{"collection":"C5:HPO","systematicName":"M37237","pmid":"","exactSource":"HP:0008402","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008402","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RIDGED_FINGERNAIL","geneSymbols":["DVL1","DVL3","EFNB1","FZD2","IKBKG","MSX1","SLC39A4","TINF2","WNT5A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NAIL_DYSTROPHY":{"collection":"C5:HPO","systematicName":"M37238","pmid":"","exactSource":"HP:0008404","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008404","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NAIL_DYSTROPHY","geneSymbols":["AAGAB","AARS1","ABCA1","ACD","AIRE","ANAPC1","AP1S3","ATL1","ATP2A2","ATP6V1B2","ATR","BANF1","BRAF","CARS1","CD151","CD28","CDSN","COL14A1","COL17A1","COL7A1","COX7B","CSTA","CTC1","CTLA4","CTSC","DCLRE1B","DKC1","DNAJC21","DSG1","DSP","DST","ERCC2","ERCC3","EVC","EVC2","FLNA","FOCAD","FOXN1","FOXP3","GJA1","GJB2","GJB6","GRHL2","GSN","GTF2E2","GTF2H5","HLA-B","HOXC13","HPGD","IKBKG","IL36RN","IL6ST","ITGA3","ITGA6","ITGB4","JUP","KDF1","KIF15","KIF1A","KLHL24","KMT2D","KRAS","KRT1","KRT14","KRT16","KRT17","KRT5","KRT6A","KRT6B","KRT74","KRT81","KRT83","KRT85","KRT86","LAMA3","LAMB3","LAMC2","LMNA","LORICRIN","LSS","MAF","MAP2K1","MAP2K2","MARS1","MBTPS2","MMP1","MPLKIP","MTX2","MVK","NAF1","NECTIN1","NFKB2","NFKBIA","NHP2","NLRP1","NOP10","NOTCH1","NPM1","NTRK1","PARN","PERP","PEX1","PEX6","PI4KA","PKP1","PLEC","POMP","PORCN","PQBP1","RAB7A","RBCK1","RECQL4","RETREG1","RNF113A","RPA1","RSPO1","RTEL1","RUNX2","SASH1","SCN9A","SMARCAD1","SMARCE1","SREBF1","STAT3","STING1","TARS1","TERC","TERT","TGM1","TINF2","TNFRSF1B","TP53","TP63","TRPV3","TTC7A","TYMS","UBE2A","USB1","WNK1","WNT10A","WRAP53","ZBTB20","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INTERVERTEBRAL_DISC_DEGENERATION":{"collection":"C5:HPO","systematicName":"M46138","pmid":"","exactSource":"HP:0008419","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008419","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTERVERTEBRAL_DISC_DEGENERATION","geneSymbols":["HGD","LMNA","MATN3","SMAD2","SMAD3","TBX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_VERTEBRAL_WEDGING":{"collection":"C5:HPO","systematicName":"M37240","pmid":"","exactSource":"HP:0008422","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008422","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VERTEBRAL_WEDGING","geneSymbols":["ARSB","BGN","CANT1","CCN6","COL2A1","FANCC","FKBP10","FN1","FZD2","IFITM5","IFT43","MBTPS2","NPR2","POP1","PTCH1","PTCH2","SEC23A","SUFU","TRPV4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_VERTEBRAL_CLEFTING":{"collection":"C5:HPO","systematicName":"M37241","pmid":"","exactSource":"HP:0008428","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008428","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VERTEBRAL_CLEFTING","geneSymbols":["ALDH1A2","ALG12","ALPL","ARSL","CHRNG","CHST3","COG1","COL11A2","COL2A1","CSGALNACT1","FLNB","FOXF1","GNPAT","HAAO","HSPA9","HSPG2","IARS2","IPO8","KDM6A","KMT2D","LAMA5","LONP1","MBTPS2","MESP2","NKX3-2","OTUD5","PEX7","RAD21","RIPPLY2","SC5D","SIX6","SLC10A7","SLC26A2","SOX2","SOX5","STAG2","TBX6","TBXT","TRIP11","TRPV4","WBP11"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ANTERIOR_BEAKING_OF_LUMBAR_VERTEBRAE":{"collection":"C5:HPO","systematicName":"M46139","pmid":"","exactSource":"HP:0008430","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008430","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANTERIOR_BEAKING_OF_LUMBAR_VERTEBRAE","geneSymbols":["AGA","FUCA1","GALNS","GLB1","GUSB"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPOPLASTIC_CERVICAL_VERTEBRAE":{"collection":"C5:HPO","systematicName":"M43351","pmid":"","exactSource":"HP:0008434","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008434","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASTIC_CERVICAL_VERTEBRAE","geneSymbols":["ARSL","EBP","FLNB","POGZ","SLC26A2","SLC35B2","SOX9","TRPV4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_VERTEBRAL_ARCH_ANOMALY":{"collection":"C5:HPO","systematicName":"M37242","pmid":"","exactSource":"HP:0008438","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008438","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VERTEBRAL_ARCH_ANOMALY","geneSymbols":["ANKRD11","CHST3","DDRGK1","EXOC6B","FGFR3","GNPTAB","HNRNPR","JAG1","KIF22","LTBP3","NPR2","PDE4D","PRKAR1A","RMRP","RNU4ATAC","SLC35D1","SMAD4","TONSL"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_C1_C2_VERTEBRAL_ABNORMALITY":{"collection":"C5:HPO","systematicName":"M37243","pmid":"","exactSource":"HP:0008440","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008440","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_C1_C2_VERTEBRAL_ABNORMALITY","geneSymbols":["ARSL","COL2A1","DDR2","FN1","IDUA","MADD","MMP2","SKI"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NEUROPATHIC_SPINAL_ARTHROPATHY":{"collection":"C5:HPO","systematicName":"M37244","pmid":"","exactSource":"HP:0008443","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008443","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEUROPATHIC_SPINAL_ARTHROPATHY","geneSymbols":["AGRN","CHAT","COL13A1","EBP","EXT1","EXT2","FKRP","GDAP1","GMPPB","GNE","LARGE1","MGME1","MYO9A","POMT1","POMT2","SH3TC2","SLC18A3","SLC25A1","SLC5A7","SNAP25","SNX14","SYT2","VAMP1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CERVICAL_SPINAL_CANAL_STENOSIS":{"collection":"C5:HPO","systematicName":"M37245","pmid":"","exactSource":"HP:0008445","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008445","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CERVICAL_SPINAL_CANAL_STENOSIS","geneSymbols":["ARSL","CSPP1","EXTL3","FGFR3","IARS2","KANSL1","KIAA0586","MYH3","NFATC2","PHF6","TRPM3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NARROW_VERTEBRAL_INTERPEDICULAR_DISTANCE":{"collection":"C5:HPO","systematicName":"M37246","pmid":"","exactSource":"HP:0008450","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008450","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NARROW_VERTEBRAL_INTERPEDICULAR_DISTANCE","geneSymbols":["CHST3","DDRGK1","EXOC6B","FGFR3","GNPTAB","HNRNPR","KIF22","LTBP3","NPR2","PDE4D","PRKAR1A","RMRP","SLC35D1","TONSL"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LUMBAR_KYPHOSIS":{"collection":"C5:HPO","systematicName":"M43352","pmid":"","exactSource":"HP:0008454","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008454","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LUMBAR_KYPHOSIS","geneSymbols":["ATG7","COL2A1","FGFR3","GALNS","POLR3GL","RPS6KA3","SLF2","VPS33A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPOPLASTIC_VERTEBRAL_BODIES":{"collection":"C5:HPO","systematicName":"M37247","pmid":"","exactSource":"HP:0008479","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008479","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASTIC_VERTEBRAL_BODIES","geneSymbols":["ACVR1","CSPP1","FUZ","GLB1","GNS","INPPL1","KIAA0586","LBR","POLR3A","PRKAR1A","RINT1","SLC29A3","SLC35D1","SUMF1","TCIRG1","TNFRSF11A","VANGL1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ASYMMETRY_OF_SPINAL_FACET_JOINTS":{"collection":"C5:HPO","systematicName":"M37248","pmid":"","exactSource":"HP:0008482","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008482","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ASYMMETRY_OF_SPINAL_FACET_JOINTS","geneSymbols":["CCL2","FUZ","TBXT","VANGL1","VANGL2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INFERIOR_LENS_SUBLUXATION":{"collection":"C5:HPO","systematicName":"M37249","pmid":"","exactSource":"HP:0008494","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008494","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INFERIOR_LENS_SUBLUXATION","geneSymbols":["BAP1","CYSLTR2","GNA11","GNAQ","SF3B1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MULTIPLE_ROWS_OF_EYELASHES":{"collection":"C5:HPO","systematicName":"M37250","pmid":"","exactSource":"HP:0008496","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008496","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MULTIPLE_ROWS_OF_EYELASHES","geneSymbols":["CDH1","CTNND1","DLX4","FOXC2","HSPG2","PRR12","PUS1","TWIST2","YARS2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HIGH_HYPERMETROPIA":{"collection":"C5:HPO","systematicName":"M37252","pmid":"","exactSource":"HP:0008499","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008499","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HIGH_HYPERMETROPIA","geneSymbols":["ALDH1A3","ARSG","ARV1","BAZ1B","BCL7B","BEST1","BLOC1S3","BUD23","CASZ1","CDH23","CEP78","CIB2","CLIP2","CLRN1","CNNM4","CRB1","CSTA","DNAJC30","EIF4H","ELN","ESPN","FGF3","FKBP6","GABRD","GJA1","GTF2I","GTF2IRD1","GTF2IRD2","HARS1","HSPG2","IFT122","IFT43","IFT52","KCNAB2","LCA5","LIMK1","LRMDA","LUZP1","MED25","METTL27","MFRP","MLXIPL","MMP23B","MT-TS2","MYO7A","NCF1","NMNAT1","OGT","OTX2","PCDH15","PDPN","PIK3R1","PRDM16","PRKCZ","PRSS56","RAI1","RAX","RERE","RFC2","RMRP","RPGRIP1","SIX6","SKI","SLC6A6","SMAD4","SOX2","SPEN","STX1A","TAOK1","TBL2","TGM5","TMEM270","TMEM98","TUBB4B","UBE4B","USH1C","USH1G","VPS37D","WDR19","WDR35","WDR45","ZMYM2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MEDIAN_CLEFT_LIP_AND_PALATE":{"collection":"C5:HPO","systematicName":"M37253","pmid":"","exactSource":"HP:0008501","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008501","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MEDIAN_CLEFT_LIP_AND_PALATE","geneSymbols":["DVL1","DVL3","FAM20C","FOXA2","FZD2","GLI2","HESX1","LHX4","OTX2","POU1F1","PROP1","PTCH1","SIX3","SLC2A10","TGIF1","WNT5A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BILATERAL_CONDUCTIVE_HEARING_IMPAIRMENT":{"collection":"C5:HPO","systematicName":"M46140","pmid":"","exactSource":"HP:0008513","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008513","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BILATERAL_CONDUCTIVE_HEARING_IMPAIRMENT","geneSymbols":["ANKRD11","EDN1","KMT2D","NFIX","NOG","TELO2","TNFRSF11A","VARS1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APLASIA_HYPOPLASIA_OF_THE_VERTEBRAE":{"collection":"C5:HPO","systematicName":"M47135","pmid":"","exactSource":"HP:0008515","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008515","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_VERTEBRAE","geneSymbols":["ACVR1","ARSL","CLCN3","COL11A1","COL2A1","CSPP1","DDRGK1","EBP","FLNB","FN1","FUZ","GLB1","GNS","INPPL1","KIAA0586","LBR","NOTCH2","NSDHL","POGZ","POLR3A","PRKAR1A","RINT1","RPS19","SF3B2","SIX6","SLC26A2","SLC29A3","SLC35B2","SLC35D1","SOX2","SOX9","SUMF1","TCIRG1","TNFRSF11A","TRPV4","VANGL1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APLASIA_HYPOPLASIA_OF_THE_SACRUM":{"collection":"C5:HPO","systematicName":"M37255","pmid":"","exactSource":"HP:0008517","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008517","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_SACRUM","geneSymbols":["CCL2","FANCB","FANCL","FUCA1","FUZ","HAAO","MNX1","NODAL","POC1A","PTH1R","ROR2","RPS19","TBXT","TP63","TRIP11","VANGL1","VANGL2","WNT7A","ZIC3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APLASIA_HYPOPLASIA_INVOLVING_THE_VERTEBRAL_COLUMN":{"collection":"C5:HPO","systematicName":"M37256","pmid":"","exactSource":"HP:0008518","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008518","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_INVOLVING_THE_VERTEBRAL_COLUMN","geneSymbols":["ACVR1","AIFM1","ARSB","ARSL","BGN","CCL2","CLCN3","COG4","COL11A1","COL2A1","COMP","CSPP1","DDR2","DDRGK1","DYM","EBP","EIF2AK3","EXTL3","FANCB","FANCL","FGD1","FLNB","FN1","FUCA1","FUZ","GALNS","GLB1","GNPTAB","GNS","GUSB","HAAO","IARS2","IDUA","INPPL1","KIAA0586","LBR","LFNG","LONP1","MNX1","NFIX","NODAL","NOG","NOTCH2","NSDHL","POC1A","POGZ","POLR3A","PRKAR1A","PTH1R","RAB33B","RINT1","RMRP","ROR2","RPS19","SF3B2","SIX6","SLC26A2","SLC29A3","SLC35B2","SLC35D1","SOX2","SOX9","SUMF1","TBXT","TCIRG1","TNFRSF11A","TP63","TRAPPC2","TRIP11","TRPV4","VANGL1","VANGL2","WNT7A","ZIC3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_COCCYX_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M37257","pmid":"","exactSource":"HP:0008519","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008519","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_COCCYX_MORPHOLOGY","geneSymbols":["COLEC10","COLEC11","DCHS1","FAT4","MASP1","SH3PXD2B","TAF1","TBX15","TRPV4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_POSTERIOR_HELIX_PIT":{"collection":"C5:HPO","systematicName":"M37258","pmid":"","exactSource":"HP:0008523","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008523","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POSTERIOR_HELIX_PIT","geneSymbols":["CDKN1C","EP300","GPC3","GPC4","IGF2","KCNQ1","KCNQ1OT1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CONGENITAL_SENSORINEURAL_HEARING_IMPAIRMENT":{"collection":"C5:HPO","systematicName":"M37259","pmid":"","exactSource":"HP:0008527","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008527","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONGENITAL_SENSORINEURAL_HEARING_IMPAIRMENT","geneSymbols":["ADGRV1","CHD7","COL25A1","COX16","DUSP6","ESRP1","FGF17","FGF8","FGFR1","FOXI1","GJB2","GJB6","GNRH1","GNRHR","GREB1L","HS6ST1","IGF1","KARS1","KCNE1","KCNJ10","KCNQ1","KIF21A","KISS1","KISS1R","KITLG","KYNU","LRTOMT","MAP3K7","MITF","MRPS7","NHLH2","NSMF","PAX3","PCDH15","PDZD7","PHOX2A","POU3F4","PROK2","PROKR2","PRPH2","PRPS1","RAC1","RDH5","RHO","RLBP1","ROR1","SLC26A4","SPRY4","TAC3","TACR3","TUBA1A","TUBB2B","TUBB3","USH1C","USH2A","WDR11","WFS1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALLY_FOLDED_HELIX":{"collection":"C5:HPO","systematicName":"M37260","pmid":"","exactSource":"HP:0008544","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008544","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALLY_FOLDED_HELIX","geneSymbols":["ACTB","AGO2","AMER1","AMMECR1","ARVCF","ASXL2","BCL11A","BCOR","BHLHA9","BICRA","CBL","CDK13","CHD7","CHUK","CLIC2","COL2A1","COMT","CPT2","CREBBP","CSNK2A1","CSPP1","DACT1","DDX6","EBF3","EBP","EFTUD2","FANCB","FBN2","FGFR2","FN1","FOXP2","FREM1","FZD2","GNAI3","GNB1","GP1BB","HIRA","HOXA2","HSPG2","JMJD1C","KANSL1","KCTD1","KIAA0586","KMT2D","LONP1","MAPRE2","MED12","NAA10","NARS1","NFIA","NFIX","PGM2L1","PIGA","PIGB","PIGL","PIGN","PLCB4","PPP1CB","PPP2R3C","PYCR2","RECQL4","RPS23","RREB1","SALL1","SCARF2","SCNM1","SEC24C","SEMA3E","SLC16A2","SLC26A2","SLC6A8","SMC1A","TASP1","TBX1","TBX2","TCF3","TFAP2A","TGFB3","TMEM94","TRIO","TUBB","TWIST1","UFD1","VPS51","ZMYND11","ZNF462"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_COCHLEAR_MALFORMATION":{"collection":"C5:HPO","systematicName":"M37261","pmid":"","exactSource":"HP:0008554","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008554","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_COCHLEAR_MALFORMATION","geneSymbols":["COL4A6","EYA1","FOXI1","HAAO","KCNJ10","ORC1","PI4KB","SIX1","SLC26A4","SRCAP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_EXTERNAL_EAR_MALFORMATION":{"collection":"C5:HPO","systematicName":"M37262","pmid":"","exactSource":"HP:0008572","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008572","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EXTERNAL_EAR_MALFORMATION","geneSymbols":["ADAMTS3","ANK1","BCOR","BLNK","BRCA1","BRCA2","BRIP1","CCBE1","CD79A","CD79B","CHD7","CHN1","CHST14","CTH","DACT1","DSE","EDN1","ERCC4","ESCO2","EYA1","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FAT4","FGD1","FGFR2","FGFR3","FRAS1","FREM2","GATA4","GJA1","GNAI3","GRIP1","IGHM","IGLL1","KIF1A","LRRC8A","MAD2L2","MAFB","MAPRE2","NAA10","PALB2","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PIK3R1","PLCB4","PURA","RAD51","RAD51C","RFWD3","SALL1","SALL4","SEMA3E","SIX1","SIX5","SLC39A7","SLX4","SPI1","TBCE","TCF3","TP63","TUBB","TWIST1","UBE2T","XRCC2","ZNHIT3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_UNDERFOLDED_HELIX":{"collection":"C5:HPO","systematicName":"M43353","pmid":"","exactSource":"HP:0008577","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008577","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UNDERFOLDED_HELIX","geneSymbols":["COL2A1","FN1","RECQL4","SCNM1","SLC16A2","SLC6A8","TMEM94"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPOPLASIA_OF_THE_COCHLEA":{"collection":"C5:HPO","systematicName":"M43354","pmid":"","exactSource":"HP:0008586","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008586","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASIA_OF_THE_COCHLEA","geneSymbols":["DDX11","EYA1","FOXI1","FOXP2","KCNJ10","SIX1","SIX5","SLC26A4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPOPLASTIC_HELICES":{"collection":"C5:HPO","systematicName":"M37263","pmid":"","exactSource":"HP:0008589","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008589","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASTIC_HELICES","geneSymbols":["AASS","AGO2","FOXP1","FRAS1","GNAI3","HOXA2","PAH","PBX1","PLCB4","TFAP2A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PROMINENT_ANTITRAGUS":{"collection":"C5:HPO","systematicName":"M41365","pmid":"","exactSource":"HP:0008593","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008593","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROMINENT_ANTITRAGUS","geneSymbols":["B3GAT3","CHST3","KAT6A","PGM2L1","PIGK","RAB3GAP2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MORPHOLOGICAL_ABNORMALITY_OF_THE_MIDDLE_EAR":{"collection":"C5:HPO","systematicName":"M37264","pmid":"","exactSource":"HP:0008609","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008609","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MORPHOLOGICAL_ABNORMALITY_OF_THE_MIDDLE_EAR","geneSymbols":["ABCC6","AIRE","APC2","BPTF","COG1","COL1A1","COL1A2","DDR2","EFTUD2","ENPP1","EYA1","FOCAD","FRAS1","GDF6","GJB2","GJB6","IDS","IL11RA","MAP3K7","NFIX","NKX2-1","NOG","NOTCH3","NSD1","POLR1D","POU3F4","PSMD12","RAD21","RAI1","SETBP1","SETD2","SIX1","SIX5","STAG2","SYK","TFAP2A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INFANTILE_SENSORINEURAL_HEARING_IMPAIRMENT":{"collection":"C5:HPO","systematicName":"M46141","pmid":"","exactSource":"HP:0008610","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008610","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INFANTILE_SENSORINEURAL_HEARING_IMPAIRMENT","geneSymbols":["NDE1","PRG4","SARDH","SETBP1","TK2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ADULT_ONSET_SENSORINEURAL_HEARING_IMPAIRMENT":{"collection":"C5:HPO","systematicName":"M41366","pmid":"","exactSource":"HP:0008615","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008615","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ADULT_ONSET_SENSORINEURAL_HEARING_IMPAIRMENT","geneSymbols":["DGUOK","DKK1","ERCC6","ERCC8","GJB6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BILATERAL_SENSORINEURAL_HEARING_IMPAIRMENT":{"collection":"C5:HPO","systematicName":"M37265","pmid":"","exactSource":"HP:0008619","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008619","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BILATERAL_SENSORINEURAL_HEARING_IMPAIRMENT","geneSymbols":["AARS1","ACOX1","ACTG1","ADAMTSL1","ARSA","ATG7","ATP6V0A4","ATP6V1B2","BSND","CARS1","CATSPER2","CD109","CHCHD10","CHSY1","CLCNKA","CLCNKB","COA8","COL4A6","DCAF17","DNAJC19","DNAJC3","DSPP","ERCC2","ERCC3","FUS","GP1BA","GP1BB","GRXCR2","GTF2E2","GTF2H5","IARS2","IGF1","ITGA2","ITGA2B","ITGB3","KCNE1","KCNQ1","LETM1","LHFPL5","LOXHD1","MAP1B","MAP3K20","MARS2","MPEG1","MPLKIP","MRAS","MT-CO1","MT-CO2","MT-CO3","MT-CYB","MT-ND1","MT-ND5","MT-ND6","MT-TC","MT-TF","MT-TK","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TV","MT-TW","MYH14","MYO7A","NARS2","NAXD","POGZ","POLG","POU3F4","PSAP","RBMX","RNF113A","RRM2B","RTTN","SIX6","SLC12A2","SOX2","SPTBN1","SQSTM1","STRC","TARDBP","TARS1","TBC1D24","TBK1","TUBB3","TWNK","VCP","YARS1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_STAPES":{"collection":"C5:HPO","systematicName":"M37266","pmid":"","exactSource":"HP:0008628","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008628","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_STAPES","geneSymbols":["ABCC6","BPTF","COL1A1","COL1A2","ENPP1","GDF6","GJB2","GJB6","IDS","IL11RA","NOG","POU3F4","PSMD12","RAD21","SETBP1","STAG2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APLASIA_HYPOPLASIA_OF_THE_FALLOPIAN_TUBE":{"collection":"C5:HPO","systematicName":"M37267","pmid":"","exactSource":"HP:0008655","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008655","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_FALLOPIAN_TUBE","geneSymbols":["AR","DCAF17","DHH","WNT3","WNT4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_URETHRAL_STENOSIS":{"collection":"C5:HPO","systematicName":"M37269","pmid":"","exactSource":"HP:0008661","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008661","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_URETHRAL_STENOSIS","geneSymbols":["BAZ1B","BCL7B","BNC2","BUD23","CDC45","CLIP2","COL7A1","CTC1","DKC1","DNAJC30","EIF4H","ELN","FERMT1","FKBP6","FLNA","FLT4","GTF2I","GTF2IRD1","GTF2IRD2","ITGA6","ITGB4","LAMA3","LAMB3","LAMC2","LIMK1","MAP3K7","MED25","METTL27","MKKS","MLXIPL","MMP1","NCF1","NHP2","NOP10","NPM1","PARN","PKP1","PLEC","POLA1","PTPRF","RFC2","RIN2","RTEL1","SIN3A","SPRED1","STX1A","TBL2","TBX1","TERC","TERT","TINF2","TMEM270","TP63","TYMS","USB1","VPS37D","WRAP53","ZMYM2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CALCIUM_OXALATE_NEPHROLITHIASIS":{"collection":"C5:HPO","systematicName":"M43355","pmid":"","exactSource":"HP:0008672","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008672","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CALCIUM_OXALATE_NEPHROLITHIASIS","geneSymbols":["ADCY10","AGXT","GRHPR","HOGA1","OPLAH","SLC26A1","SLC36A2","TBC1D7"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RENAL_HYPOPLASIA_APLASIA":{"collection":"C5:HPO","systematicName":"M37271","pmid":"","exactSource":"HP:0008678","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008678","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RENAL_HYPOPLASIA_APLASIA","geneSymbols":["ADA2","AFF3","ALDH18A1","ALKBH8","ANKLE2","ANKRD17","ANOS1","APC","APC2","ARID1B","ARL6","ARVCF","ARX","ASPM","ASXL2","ATN1","ATP5F1A","ATP5F1D","ATP5F1E","ATP5MK","ATPAF1","ATPAF2","ATRX","B3GLCT","BAZ1B","BCL7B","BCOR","BMP4","BRCA1","BRCA2","BRIP1","BUD23","C2CD3","CCDC141","CCNQ","CD96","CDC42","CDK5RAP2","CDK6","CDON","CENPE","CENPF","CENPJ","CEP120","CEP135","CEP152","CEP55","CEP63","CHD7","CIT","CLIP2","COG6","COMT","COPB2","COX14","CPLANE1","CTU2","DACT1","DCC","DCDC2","DCHS1","DEAF1","DHCR24","DHCR7","DISP1","DLL1","DLL4","DNAJC30","DSTYK","DUSP6","DYNC2H1","DYNC2I1","DYNC2I2","DYNC2LI1","DYRK1A","EIF4H","ELN","ERCC4","ERCC6","ERCC8","EVC","EVC2","EYA1","FAM149B1","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FAT4","FBLN5","FBXW11","FEZF1","FGF10","FGF17","FGF20","FGF8","FGFR1","FGFR2","FGFR3","FKBP6","FLII","FLRT3","FOXH1","FRAS1","FREM1","FREM2","FUZ","GAS1","GATA1","GATA3","GDF3","GDF6","GEMIN4","GFRA1","GLI1","GLI2","GLI3","GNB2","GP1BB","GPKOW","GREB1L","GRIP1","GTF2I","GTF2IRD1","GTF2IRD2","H4C3","H4C5","H4C9","HAAO","HEATR3","HESX1","HIRA","HMGA2","HNF1B","HOXD13","HRAS","HS2ST1","HS6ST1","HSPA9","IDH1","IFT27","IFT80","IL17RD","INSL3","INTU","IQSEC2","ITGA8","JAG1","JMJD1C","KCNJ2","KCNJ5","KCTD1","KDM6A","KIAA0753","KIF14","KIF7","KMT2D","KNL1","KNSTRN","KYNU","LEMD3","LHX1","LIMK1","LMBRD1","LRP4","MAD2L2","MBTPS2","MCM5","MCM7","MCPH1","MDM2","MEOX1","METTL27","METTL5","MFSD2A","MKKS","MKS1","MLXIPL","MT-ATP6","MT-ATP8","MUC1","MYOD1","NAA10","NADSYN1","NCAPD3","NCAPG2","NCF1","NDNF","NF1","NFIA","NIPBL","NODAL","NOTCH2","NRIP1","NSD1","NSD2","NSDHL","NUP37","OFD1","PALB2","PAX1","PAX2","PBX1","PDE6D","PHC1","PHGDH","PIEZO2","PIK3C2A","PIK3CA","PIK3CD","PLXNA1","POR","PORCN","PPFIBP1","PPP1R15B","PPP2R1A","PPP2R3C","PQBP1","PRIM1","PRKACA","PRKACB","PRKAR1A","PRMT7","PROK2","PROKR2","PTCH1","PTPN11","PUF60","PYCR2","RAD21","RAD51","RAD51C","RAI1","RARB","REN","RET","RFC2","RFWD3","RIPK4","RMND1","RNU4ATAC","ROBO1","ROBO2","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS7","RREB1","RTTN","SALL1","SALL4","SARS1","SASS6","SDCCAG8","SEC24C","SEMA3A","SETD2","SF3B2","SF3B4","SH2B1","SHH","SIX1","SIX3","SIX5","SKIC2","SKIC3","SLC30A9","SLX4","SON","SOX10","SPRY4","SRCAP","STIL","STRA6","STS","STX1A","SUFU","TACR3","TAF13","TBC1D24","TBL2","TBX1","TBX18","TBX3","TBXT","TCTN3","TDGF1","TFAP2A","TGIF1","THOC6","TMCO1","TMEM216","TMEM270","TMEM67","TNXB","TOPORS","TP63","TRAPPC10","TRAPPC14","TRPV6","TRRAP","TSR2","TXNL4A","UBE2T","UFD1","VANGL1","VPS37D","WARS1","WBP11","WDR11","WDR19","WDR35","WDR62","WLS","WNT3","WNT4","WNT7B","WNT9B","XRCC2","XRCC4","ZIC2","ZIC3","ZMYM2","ZNF699","ZPR1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RENAL_TUBULAR_EPITHELIAL_NECROSIS":{"collection":"C5:HPO","systematicName":"M41367","pmid":"","exactSource":"HP:0008682","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008682","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RENAL_TUBULAR_EPITHELIAL_NECROSIS","geneSymbols":["CPT2","LAMA3","LAMB3","LAMC2","SLC22A12"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APLASIA_HYPOPLASIA_OF_THE_UTERUS":{"collection":"C5:HPO","systematicName":"M37272","pmid":"","exactSource":"HP:0008684","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008684","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_UTERUS","geneSymbols":["ADH5","AR","ARID1B","B3GLCT","BMP15","BMPR1B","BNC1","C14orf39","CHD7","CLPP","COX7B","CPLX1","CTBP1","CYB5A","CYP11A1","CYP11B1","CYP17A1","DCAF17","DHH","DHX37","DUSP6","ERAL1","ESR1","FANCL","FGF17","FGF8","FGFR1","FGFRL1","FIGLA","FOXL2","FSHR","GATA3","GLI3","GNRH1","GNRHR","HCCS","HNF1B","HS6ST1","IRF6","KIF14","KISS1","KISS1R","LARS2","LETM1","MINPP1","MRPS22","MSH4","MSH5","MYRF","NDUFB11","NHLH2","NIN","NR5A1","NSD2","NSMF","NUP107","POLR3H","POR","PPP2R1A","PPP2R3C","PROK2","PROKR2","PSMC3IP","RBM8A","SOHLH1","SOX11","SPIDR","SPRY4","STRA6","TAC3","TACR3","TOE1","TP63","TXNDC15","WDR11","WNT4","WNT7A","ZSWIM7"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BILATERAL_CRYPTORCHIDISM":{"collection":"C5:HPO","systematicName":"M37273","pmid":"","exactSource":"HP:0008689","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008689","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BILATERAL_CRYPTORCHIDISM","geneSymbols":["ALX4","AMH","AMHR2","AR","ASH1L","ATP6V1A","ATP6V1E1","C2CD3","CDH11","COLEC10","COLEC11","CPLANE1","CREBBP","CYP17A1","DNAJC19","EP300","ERCC6","FAM149B1","FARS2","FDFT1","FGD1","GTF2H5","IFT172","IGBP1","KAT6A","KIAA0753","KIF7","KLHL15","LSS","MASP1","MCM5","MEGF8","NFIX","NONO","ODC1","OFD1","PAICS","PDE6D","POLE","RIPK4","RPL10","RYR1","SMARCAL1","SRY","TCTN3","TMEM216","TOPORS","TWIST1","VPS50","WDR37","ZBTB20"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RENAL_HAMARTOMA":{"collection":"C5:HPO","systematicName":"M37274","pmid":"","exactSource":"HP:0008696","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008696","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RENAL_HAMARTOMA","geneSymbols":["CDC73","CDKN1B","DIS3L2","IFNG","MVK","TSC1","TSC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_TESTICULAR_DYSGENESIS":{"collection":"C5:HPO","systematicName":"M37275","pmid":"","exactSource":"HP:0008715","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008715","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TESTICULAR_DYSGENESIS","geneSymbols":["ARX","CBX2","DHH","DHX37","DMRT1","GATA4","MAP3K1","NR0B1","NR5A1","SOX9","SRY","TSPYL1","WT1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_URETHROVAGINAL_FISTULA":{"collection":"C5:HPO","systematicName":"M37276","pmid":"","exactSource":"HP:0008716","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008716","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_URETHROVAGINAL_FISTULA","geneSymbols":["DYNC2H1","DYNC2I1","DYNC2I2","IFT80","UBR1","WDR35"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_URETHRAL_DIVERTICULUM":{"collection":"C5:HPO","systematicName":"M43356","pmid":"","exactSource":"HP:0008722","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008722","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_URETHRAL_DIVERTICULUM","geneSymbols":["AR","EFEMP2","FBLN5","LTBP1","MAMLD1","PLD1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPOPLASIA_OF_THE_VAGINA":{"collection":"C5:HPO","systematicName":"M37277","pmid":"","exactSource":"HP:0008726","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008726","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASIA_OF_THE_VAGINA","geneSymbols":["B3GLCT","CYB5A","CYP11B1","CYP17A1","DHX37","DMRT3","GATA4","IRF6","MAP3K1","NR0B1","NR5A1","SOX9","SRY","VAMP7","WT1","WWOX","ZFPM2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FEMALE_EXTERNAL_GENITALIA_IN_INDIVIDUAL_WITH_46_XY_KARYOTYPE":{"collection":"C5:HPO","systematicName":"M37278","pmid":"","exactSource":"HP:0008730","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008730","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FEMALE_EXTERNAL_GENITALIA_IN_INDIVIDUAL_WITH_46_XY_KARYOTYPE","geneSymbols":["AR","CYB5A","CYP11A1","CYP17A1","DHX37","DMRT3","GATA4","HSD17B3","HSD3B2","MAP3K1","NR0B1","NR5A1","SOX9","SRY","VAMP7","WT1","WWOX","ZFPM2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DECREASED_TESTICULAR_SIZE":{"collection":"C5:HPO","systematicName":"M37279","pmid":"","exactSource":"HP:0008734","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008734","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_TESTICULAR_SIZE","geneSymbols":["ALMS1","ANOS1","ARL6","ARX","ATRX","AXL","B4GAT1","BBS1","BRCC3","CATIP","CCDC141","CCDC28B","CCDC34","CDKN1C","CEP112","CFTR","CHD7","CHRM3","CT55","CTDP1","CUL4B","CUL7","CYB5A","CYP11A1","CYP11B1","CYP17A1","DAZ1","DAZ2","DAZ3","DAZ4","DCAF17","DCC","DDB2","DDX3Y","DHX37","DKC1","DMRT3","DMXL2","DNAH10","DNAJC19","DNHD1","DUSP6","ERCC2","ERCC3","ERCC4","ERCC5","FAM111A","FANCM","FBN1","FBXO43","FEZF1","FGF17","FGF8","FGFR1","FLRT3","FMR1","FOXA2","FSHB","GATA4","GBA2","GLI2","GLI3","GNRH1","GNRHR","HDAC8","HESX1","HS6ST1","HSD3B2","HSPG2","IL17RD","KCNJ6","KDM5C","KISS1","KISS1R","KLHL10","LEP","LEPR","LHCGR","LHX4","MAGEL2","MAP3K1","MAP3K7","MBTPS2","MCM8","MEIOB","MOV10L1","MSH5","NAA10","NANOS1","NDN","NDNF","NHLH2","NR0B1","NR5A1","NSMF","OCA2","OGT","OTX2","PDHA2","PHF6","PHF8","PHGDH","PMM2","PNLDC1","POLA1","POU1F1","PQBP1","PROK2","PROKR2","PROP1","RAB18","RBMY1A1","RLIM","RNF113A","RNF212","RPL10","RPL10L","RSPO1","SAMD9","SATB2","SEMA3A","SEMA3E","SHOC1","SIM1","SLC29A3","SLC39A4","SNRPN","SOHLH1","SOX10","SOX3","SOX9","SPAG17","SPRY4","SRA1","SRY","STAG3","SYCE1","SYCP3","TAC3","TACR3","TAF4B","TBC1D20","TCTN3","TDRD9","TERB1","TERB2","TEX11","TEX14","TEX15","THOC2","TOGARAM1","TSPY1","TYMS","USP9Y","VAMP7","WDR11","WT1","WWOX","XPA","XPC","XRCC2","ZFPM2","ZMYND15","ZPR1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPOPLASIA_OF_PENIS":{"collection":"C5:HPO","systematicName":"M37280","pmid":"","exactSource":"HP:0008736","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008736","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASIA_OF_PENIS","geneSymbols":["ABCA4","ACTA1","ACTB","ADAR","ADAT3","AGBL5","AHI1","AHR","ALG12","ALKBH8","ALMS1","ALX4","ANK1","ANOS1","AR","ARCN1","ARHGEF18","ARL2BP","ARL3","ARL6","ARNT2","ARX","ATAD3A","ATP6V1A","ATP6V1E1","ATRX","AXL","B3GALNT2","B4GAT1","B9D2","BAZ1B","BBIP1","BBS1","BBS10","BBS12","BBS2","BBS4","BBS5","BBS7","BBS9","BCL7B","BEST1","BLTP1","BRD4","BUB1B","BUD23","C2CD3","CA4","CAMK2A","CASK","CASZ1","CC2D2A","CCDC141","CCDC22","CCDC28B","CDC42BPB","CDC45","CDC6","CDH11","CDH2","CDHR1","CDKL5","CDKN1C","CDON","CDT1","CENPT","CEP19","CEP290","CEP41","CERKL","CFAP418","CHD4","CHD7","CHRNG","CILK1","CLIP2","CLRN1","CNGA1","CNGB1","COG5","COL4A1","COLEC10","COX7B","CPE","CRB1","CRPPA","CRX","CTU2","CUL4B","CYB5A","CYP17A1","DACT1","DAG1","DCAF17","DCC","DCX","DDX6","DHCR7","DHDDS","DHODH","DHX37","DHX38","DIS3L2","DISP1","DLL1","DMRT3","DMXL2","DNAJC19","DNAJC30","DPYSL5","DTYMK","DUSP6","DVL1","DVL3","DYNC2H1","DYNC2I1","DYNC2I2","DYRK1A","EBF3","ECE1","EED","EHMT1","EIF2S3","EIF4H","ELN","ERCC2","ERCC6","ERCC8","EXT2","EYS","EZH2","FAM111A","FAM161A","FANCB","FANCD2","FANCF","FANCL","FAT4","FEZF1","FGF17","FGF8","FGFR1","FIG4","FKBP6","FKRP","FKTN","FLRT3","FOXH1","FRAS1","FREM2","FSCN2","FZD2","GABRD","GAS1","GATA4","GH1","GHR","GLI2","GLI3","GLYCTK","GMNN","GMPPB","GNAO1","GNB2","GNRH1","GNRHR","GPC3","GPC4","GPR161","GRIA3","GRIN1","GRIP1","GRM7","GTF2I","GTF2IRD1","GTF2IRD2","GUCA1B","H4C9","HCCS","HDAC8","HERC1","HERC2","HESX1","HGSNAT","HID1","HMGA2","HNRNPR","HOXA13","HOXD13","HS6ST1","HSD3B2","HSPG2","HUWE1","IDH3A","IDH3B","IFIH1","IFT140","IFT172","IFT27","IFT74","IFT80","IFT88","IGF2","IL17RD","IMPDH1","IMPG1","IMPG2","INPP5E","INTU","ISL1","KAT6B","KATNIP","KCNA1","KCNAB2","KDM5C","KDM6A","KIAA0586","KIAA0753","KIAA1549","KIF7","KISS1","KISS1R","KIZ","KLF1","KLHL15","KLHL40","KLHL41","KLHL7","KMT2D","LAMA5","LARGE1","LEP","LHB","LHX4","LIG4","LIMK1","LMNB2","LMOD3","LMX1B","LRAT","LSM11","LSS","LUZP1","LZTFL1","MADD","MAGEL2","MAK","MAMLD1","MAP3K1","MBD5","MCTP2","MED12","MEGF8","MERTK","METTL27","MID1","MINPP1","MKKS","MKRN3","MKS1","MLXIPL","MMP23B","MNX1","MTM1","MYH3","MYRF","NCF1","NDNF","NDUFB11","NEB","NEK1","NEK2","NEUROD2","NHLH2","NIPBL","NODAL","NPAP1","NPHP1","NR0B1","NR2E3","NR5A1","NRL","NSD1","NSMF","NXN","OFD1","OPHN1","ORC1","ORC4","ORC6","OTUD5","OTX2","PAFAH1B1","PBX1","PCARE","PDE6A","PDE6B","PDE6G","PDPN","PHF21A","PHF6","PIEZO2","PIGA","PIGP","PIGQ","PLAG1","PNKP","PNPLA6","POLE","POLR1B","POLR1C","POLR1D","POMGNT1","POMGNT2","POMK","POMT1","POMT2","POR","PPP1R12A","PRCD","PRDM13","PRDM16","PRKCZ","PRKDC","PROK2","PROKR2","PROM1","PRPF3","PRPF31","PRPF4","PRPF6","PRPF8","PRPH2","PRRX1","PSMC1","PSMD12","PTCH1","PTPN11","PWAR1","PWRN1","RAB18","RAB3GAP1","RAB3GAP2","RAD21","RBP3","RDH12","REEP6","RERE","RFC2","RGR","RHO","RIPK4","RLBP1","RLIM","RNASEH2A","RNASEH2B","RNASEH2C","RNF113A","RNU4ATAC","RNU7-1","ROBO1","ROM1","ROR2","RP1","RP1L1","RP2","RP9","RPE65","RPGR","RSPO2","RTTN","RXYLT1","RYR1","SAG","SALL1","SAMD9","SAMHD1","SATB2","SC5D","SCAPER","SCLT1","SCN1B","SCN2A","SDCCAG8","SEMA3A","SEMA3E","SEMA4A","SETBP1","SGPL1","SHH","SIK1","SIM1","SIN3A","SIX3","SIX6","SKI","SLC25A22","SLC25A24","SLC29A3","SLC32A1","SLC7A14","SMC1A","SMC3","SMCHD1","SMO","SNORD115-1","SNORD116-1","SNRNP200","SOX10","SOX2","SOX3","SOX9","SPATA7","SPEN","SPRY4","SPTBN1","SRA1","SRD5A2","SRY","STT3A","STT3B","STX1A","STXBP1","SUFU","SUZ12","TAC3","TACR3","TAPT1","TBC1D20","TBCE","TBL1XR1","TBL2","TBX3","TCF12","TCF4","TCOF1","TDGF1","TGIF1","THOC2","THOC6","TMEM270","TOE1","TOGARAM1","TOPORS","TP63","TREX1","TRIM32","TRIM8","TRPM3","TRRAP","TSPYL1","TTC8","TUB","TULP1","TWIST2","UBA1","UBE2A","UBE4B","UBR1","UBR7","USH2A","USP7","VAC14","VAMP7","VPS35L","VPS37D","WASHC5","WDPCP","WDR11","WDR35","WNT5A","WNT7A","WT1","WWOX","XRCC4","YWHAE","ZEB2","ZFPM2","ZIC2","ZNF408","ZNF513","ZPR1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LARYNGEAL_HYPOPLASIA":{"collection":"C5:HPO","systematicName":"M37281","pmid":"","exactSource":"HP:0008749","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008749","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LARYNGEAL_HYPOPLASIA","geneSymbols":["CILK1","HYLS1","INTU","KRAS","PRRX1","SF3B4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LARYNGEAL_CLEFT":{"collection":"C5:HPO","systematicName":"M43357","pmid":"","exactSource":"HP:0008751","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008751","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LARYNGEAL_CLEFT","geneSymbols":["CAPN15","EDN1","FBXW7","GLI3","MID1","PHIP","SPTBN1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LARYNGOTRACHEOMALACIA":{"collection":"C5:HPO","systematicName":"M37282","pmid":"","exactSource":"HP:0008755","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008755","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LARYNGOTRACHEOMALACIA","geneSymbols":["COL2A1","EMC1","FLNB","HK1","KIF22","TONSL","TRRAP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_REPETITIVE_COMPULSIVE_BEHAVIOR":{"collection":"C5:HPO","systematicName":"M37283","pmid":"","exactSource":"HP:0008762","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008762","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REPETITIVE_COMPULSIVE_BEHAVIOR","geneSymbols":["AUTS2","DNAJC19","FOXP1","GRN","IFNG","MECP2","NR2F1","SPTBN1","SYT1","TRANK1","TSC1","TSC2","WDR26"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NO_SOCIAL_INTERACTION":{"collection":"C5:HPO","systematicName":"M43358","pmid":"","exactSource":"HP:0008763","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008763","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NO_SOCIAL_INTERACTION","geneSymbols":["ACOX1","EXTL3","GFM2","IQSEC2","SH2B1","TRIM8"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_AUDITORY_HALLUCINATIONS":{"collection":"C5:HPO","systematicName":"M37284","pmid":"","exactSource":"HP:0008765","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008765","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AUDITORY_HALLUCINATIONS","geneSymbols":["CACNA1A","CDH2","CEP85L","CLN6","CSF1R","DEPDC5","DNAJC5","FIG4","LGI1","MMACHC","NPRL2","NPRL3","PDGFRB","RELN","SON","TTR"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INAPPROPRIATE_SEXUAL_BEHAVIOR":{"collection":"C5:HPO","systematicName":"M41368","pmid":"","exactSource":"HP:0008768","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008768","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INAPPROPRIATE_SEXUAL_BEHAVIOR","geneSymbols":["ATP7B","GNAS","GRN","MAPT","PSEN1","TDO2","TRANK1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_OBSESSIVE_COMPULSIVE_TRAIT":{"collection":"C5:HPO","systematicName":"M37285","pmid":"","exactSource":"HP:0008770","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008770","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OBSESSIVE_COMPULSIVE_TRAIT","geneSymbols":["ADGRV1","ASH1L","CLN5","DMPK","ELN","FMO3","FMR1","GABRA1","GABRD","GABRG2","GATAD2B","HCN1","MAGEL2","MLXIPL","NDN","OCA2","PANK2","PCDH19","SCN1A","SCN1B","SCN2A","SCN9A","SLC45A1","SNRPN","STX1B","SYNGAP1","TIAM1","TRIO","USP7","YWHAG"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APLASIA_HYPOPLASIA_OF_THE_EAR":{"collection":"C5:HPO","systematicName":"M37286","pmid":"","exactSource":"HP:0008771","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008771","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_EAR","geneSymbols":["ABHD5","ADA2","ADNP","AGA","AMER1","ATRX","B3GAT3","B3GLCT","BMP2","BPTF","CAMK2A","CASZ1","CD96","CDC45","CDC6","CDT1","CENPJ","CHD5","CHD7","CHST3","CNOT1","COG1","CPLX1","CRPPA","CTBP1","DACT1","DCHS1","DDR2","DDX11","DDX3X","DHODH","DLK1","EDN1","EDNRA","EFTUD2","EIF5A","EYA1","FANCB","FANCF","FANCL","FAT4","FBXO11","FGF10","FGF3","FGFR2","FGFR3","FIG4","FKRP","FKTN","FOXI1","FOXP2","GABRD","GATA1","GBA1","GLI3","GMNN","GNAI3","GON7","GREB1L","HDAC8","HEATR3","HECTD4","HIVEP2","HNRNPK","HOXA13","HOXA2","HS6ST2","HSPA9","HSPG2","INTU","ITGA6","ITGB4","KCNAB2","KCNJ10","KCTD1","KIF15","KMT2D","LAGE3","LARGE1","LAS1L","LETM1","LMBRD1","LMNA","LUZP1","MAF","MAN2C1","MAP1B","MAPRE2","MBD5","MCM5","MED12","MEG3","MMP23B","MSX2","NELFA","NFIX","NIN","NSD2","NUP107","NUP133","ORC1","ORC4","ORC6","OSGEP","OTUD6B","PAK1","PAM16","PBX1","PCGF2","PCNT","PDPN","PIGG","PIGN","PIK3CA","PLCB4","PLEC","POC1A","POLA1","POLE","POLR1A","POLR1B","POLR1C","POLR1D","POMT1","POMT2","PRDM16","PRIM1","PRKCZ","PSMD12","RBM10","RECQL","RERE","RIC1","RIPK4","RNU4ATAC","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS7","RSPO2","RSPRY1","RTL1","SALL1","SEMA3E","SETD1A","SF3B2","SF3B4","SIAH1","SIM1","SIX1","SIX5","SKI","SKIC3","SLC26A4","SLC35C1","SLF2","SMAD4","SPEN","SPOP","STAG2","TBX15","TCOF1","TCTN3","TFAP2A","TP53RK","TP63","TPRKB","TSR2","TWIST1","TWIST2","UBE4B","UFC1","UQCRH","WDR4","WDR73","WNT3","YRDC","ZMYM2","ZNF462"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APLASIA_HYPOPLASIA_OF_THE_INNER_EAR":{"collection":"C5:HPO","systematicName":"M37287","pmid":"","exactSource":"HP:0008774","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008774","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_INNER_EAR","geneSymbols":["DDX11","EYA1","FGF3","FOXI1","FOXP2","GREB1L","KCNJ10","SIX1","SIX5","SLC26A4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_PROSTATE_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M37288","pmid":"","exactSource":"HP:0008775","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008775","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PROSTATE_MORPHOLOGY","geneSymbols":["AAGAB","APC","AR","BARD1","BMPR1A","BRCA1","BRCA2","BRIP1","BTK","CDH1","CDKN2A","CHEK2","COL14A1","CTLA4","EPHB2","FOXE1","GREM1","HGD","HLA-DPA1","HLA-DPB1","KLF6","MAD1L1","MDM2","MRE11","MXI1","NAB2","NBN","NTHL1","PALB2","PHF6","PRTN3","PTEN","PTPN22","RAD50","RAD51","RAD51C","RAD51D","RNASEL","RNF43","STAT6","TP53","ZFHX3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_VOCAL_CORD_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M47136","pmid":"","exactSource":"HP:0008777","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008777","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_VOCAL_CORD_MORPHOLOGY","geneSymbols":["GIPC1","LRP12","MATR3","NOTCH2NLC","RILPL1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CONGENITAL_BILATERAL_HIP_DISLOCATION":{"collection":"C5:HPO","systematicName":"M37289","pmid":"","exactSource":"HP:0008780","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008780","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONGENITAL_BILATERAL_HIP_DISLOCATION","geneSymbols":["CLTCL1","COL12A1","COL1A1","FBLN1","PLOD1","SHROOM4","TELO2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DELAYED_PUBIC_BONE_OSSIFICATION":{"collection":"C5:HPO","systematicName":"M45430","pmid":"","exactSource":"HP:0008788","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008788","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DELAYED_PUBIC_BONE_OSSIFICATION","geneSymbols":["CBFB","COL2A1","GJB2","GJB6","NKX3-2","RUNX2","SIK3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LIMITED_HIP_MOVEMENT":{"collection":"C5:HPO","systematicName":"M37290","pmid":"","exactSource":"HP:0008800","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008800","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIMITED_HIP_MOVEMENT","geneSymbols":["CHST3","COL2A1","COMP","DST","DYSF","EXT1","EXT2","FGFR3","GPC6","HGD","KY","LMNA","MATN3","NFIX","NIPA1","PIEZO2","PTH1R","TNNT1","TPM2","TRPV4","TTN","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPOPLASIA_OF_THE_FEMORAL_HEAD":{"collection":"C5:HPO","systematicName":"M37291","pmid":"","exactSource":"HP:0008802","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008802","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASIA_OF_THE_FEMORAL_HEAD","geneSymbols":["IDUA","IFNGR1","POP1","SLC26A2","TRAF3IP1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ACETABULAR_DYSPLASIA":{"collection":"C5:HPO","systematicName":"M37292","pmid":"","exactSource":"HP:0008807","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008807","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACETABULAR_DYSPLASIA","geneSymbols":["AP3B1","AP4B1","AP4E1","AP4M1","AP4S1","B3GALT6","CHRNG","COL25A1","COMP","EIF4A3","ERGIC1","EXTL3","GLB1","GUSB","MYO18B","NRCAM","POLR1A","RPS15A","SCYL2","SLC26A2","SLC35A3","TIMM22","VPS33A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FLATTENED_FEMORAL_HEAD":{"collection":"C5:HPO","systematicName":"M43359","pmid":"","exactSource":"HP:0008812","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008812","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FLATTENED_FEMORAL_HEAD","geneSymbols":["COL2A1","GLB1","PRG4","RAB33B","RSPRY1","TRAPPC2","TRPV4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LARGE_ILIAC_WING":{"collection":"C5:HPO","systematicName":"M37293","pmid":"","exactSource":"HP:0008818","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008818","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LARGE_ILIAC_WING","geneSymbols":["AMER1","ATP7A","B3GALT6","GUSB","RNU4ATAC","SMAD4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DELAYED_PROXIMAL_FEMORAL_EPIPHYSEAL_OSSIFICATION":{"collection":"C5:HPO","systematicName":"M43360","pmid":"","exactSource":"HP:0008828","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008828","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DELAYED_PROXIMAL_FEMORAL_EPIPHYSEAL_OSSIFICATION","geneSymbols":["B3GALT6","COL2A1","DUOX2","DUOXA2","HESX1","IYD","LHX3","LHX4","MATN3","POU1F1","PROP1","RNU4ATAC","SLC5A5","TG","TPO","TSHB","TSHR"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPOPLASTIC_PUBIC_RAMUS":{"collection":"C5:HPO","systematicName":"M43361","pmid":"","exactSource":"HP:0008830","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008830","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASTIC_PUBIC_RAMUS","geneSymbols":["CPLX1","CTBP1","KAT6B","LETM1","NELFA","NSD2","PIGG"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_IRREGULAR_ACETABULAR_ROOF":{"collection":"C5:HPO","systematicName":"M43362","pmid":"","exactSource":"HP:0008833","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008833","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IRREGULAR_ACETABULAR_ROOF","geneSymbols":["ARSK","CCN6","COL10A1","COL2A1","COMP","TRPV4","UFSP2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPOPLASTIC_PELVIS":{"collection":"C5:HPO","systematicName":"M37294","pmid":"","exactSource":"HP:0008839","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008839","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASTIC_PELVIS","geneSymbols":["CCDC8","CEP120","COL2A1","COMP","CUL7","ERCC6","ERCC8","FGFR3","NSDHL","OBSL1","POC1A","PORCN","RSPO2","SMARCAL1","WNT3","WNT7A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HIP_OSTEOARTHRITIS":{"collection":"C5:HPO","systematicName":"M37295","pmid":"","exactSource":"HP:0008843","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008843","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HIP_OSTEOARTHRITIS","geneSymbols":["ACAN","ANKRD55","CD247","CLCN7","COL2A1","COMP","FRZB","GDF5","HLA-B","IL2RA","IL2RB","PTPN2","PTPN22","SMAD2","SMAD3","STAT4","TRAPPC2","TRPV4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SEVERE_INTRAUTERINE_GROWTH_RETARDATION":{"collection":"C5:HPO","systematicName":"M37296","pmid":"","exactSource":"HP:0008846","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008846","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEVERE_INTRAUTERINE_GROWTH_RETARDATION","geneSymbols":["CEP57","EMG1","ESCO2","GRB10","H19","IGF1","IGF2","INSR","NIN","POLR3A","PTF1A","RECQL4","TBCE","UBR1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MODERATELY_SHORT_STATURE":{"collection":"C5:HPO","systematicName":"M43363","pmid":"","exactSource":"HP:0008848","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008848","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MODERATELY_SHORT_STATURE","geneSymbols":["HOXD13","RUNX2","SELENOI","SLC26A2","SLC39A13"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SEVERE_POSTNATAL_GROWTH_RETARDATION":{"collection":"C5:HPO","systematicName":"M37298","pmid":"","exactSource":"HP:0008850","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008850","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEVERE_POSTNATAL_GROWTH_RETARDATION","geneSymbols":["ANKRD55","BLM","BRD4","CD247","CPLX1","CTBP1","EBP","EMG1","ERCC8","FGFRL1","GATA3","GNPTAB","HDAC8","IGF1","IL2RA","IL2RB","INSR","LETM1","LHX4","NIN","NIPBL","NSD2","POU1F1","PPP1R15B","PRIM1","PTPN2","PTPN22","RAD21","RNU4ATAC","RPL10","RYR1","SHPK","SMC1A","SMC3","STAT4","TBC1D20","TRMT10A","TSHB","WFS1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FAILURE_TO_THRIVE_SECONDARY_TO_RECURRENT_INFECTIONS":{"collection":"C5:HPO","systematicName":"M37299","pmid":"","exactSource":"HP:0008866","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008866","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FAILURE_TO_THRIVE_SECONDARY_TO_RECURRENT_INFECTIONS","geneSymbols":["CD247","CD3D","CD3E","IL7R","RAG1","RAG2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FEEDING_DIFFICULTIES_IN_INFANCY":{"collection":"C5:HPO","systematicName":"M37300","pmid":"","exactSource":"HP:0008872","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008872","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FEEDING_DIFFICULTIES_IN_INFANCY","geneSymbols":["AASS","ACTA1","ACTL6B","ACTN2","ADNP","AFF4","AGRN","AHI1","AIFM1","ALG12","ALG14","ALS2","AQP2","ARHGAP29","ARHGEF38","ARID1A","ARID1B","ARL13B","ARL3","ARMC9","ARSA","ARV1","ARVCF","ARX","ASL","ASPA","ASXL1","ASXL2","ASXL3","ATAD3A","ATP10A","ATP6V0A1","ATP6V0A2","ATP6V1B2","ATP7A","ATPAF2","ATRX","AUTS2","AVPR2","B3GALT6","B3GLCT","B9D1","B9D2","BCKDHA","BCKDHB","BCOR","BCS1L","BIN1","BLM","BMP4","BRAF","BRD4","BTD","BUB1B","C2CD3","CAMLG","CARS1","CASK","CASR","CASZ1","CBL","CBY1","CC2D2A","CCDC22","CCDC32","CDH1","CDK8","CDKN1C","CDON","CEP104","CEP120","CEP41","CHAT","CHD7","CHD8","CHRNA1","CHRNB1","CHRND","CHRNE","CISD2","CLCN6","CLDN16","CLEC7A","CLN8","CLTCL1","CNOT2","CNOT3","CNTN1","COBLL1","COG1","COG5","COL13A1","COL1A1","COL2A1","COL6A1","COL6A2","COL6A3","COL7A1","COLQ","COMT","COX10","COX16","COX8A","CPLANE1","CPT2","CREBBP","CRLF1","CSPP1","CTCF","CYP11B2","DALRD3","DBT","DCHS1","DCX","DDC","DDX3X","DEAF1","DEGS1","DGUOK","DHCR7","DISP1","DLEC1","DLG1","DLK1","DLL1","DLX4","DMPK","DNM1L","DPM1","DPYD","DPYS","DPYSL5","DST","DUOX2","DUOXA2","DYNC2H1","DYNC2I1","DYNC2I2","DYNC2LI1","DYRK1A","ECHS1","EDEM3","EED","EFTUD2","EIF5A","ELN","ELP1","EMG1","EN1","EP300","EPB41L1","EPG5","ERCC1","ERCC2","ERCC5","ERCC6","ERCC8","EZH2","FAM149B1","FARS2","FARSA","FAT4","FBN1","FDFT1","FGF8","FGFR1","FGFR2","FKRP","FKTN","FLCN","FLI1","FLII","FLNA","FOXG1","FOXH1","FOXP1","FOXP2","FUS","GAA","GABRD","GALC","GAS1","GFM2","GGPS1","GLI2","GLRA2","GNB2","GNPTAB","GOT2","GP1BB","GPT2","GRB10","GRHL3","GRM7","GSX2","GTPBP3","H19","HACD1","HADH","HADHA","HADHB","HDAC8","HERC2","HESX1","HIRA","HLCS","HMGA2","HNRNPK","HRAS","HSD17B4","HSPD1","HSPG2","HTRA2","HYLS1","IDH1","IFT140","IFT172","IFT74","IFT80","IGF2","IKBKG","IL17F","IL17RA","IL17RC","IL6ST","INPP5E","IQSEC2","IRF6","ITCH","ITGA7","IYD","JMJD1C","KANSL1","KAT8","KATNIP","KCNAB2","KCNK9","KDM3B","KDM6A","KIAA0586","KIAA0753","KIF15","KIF1A","KIF5A","KIF7","KLHL40","KMT2D","KMT5B","KRAS","KRT14","KRT5","LAMA2","LAMB2","LARGE1","LHX3","LHX4","LIFR","LONP1","LRP5","LRPPRC","LUZP1","LYRM4","LZTR1","MAGEL2","MAP2K1","MAP2K2","MAP3K20","MAP3K7","MCCC1","MECP2","MED12L","MEG3","MGAT2","MID1","MKRN3","MKS1","MLXIPL","MMAA","MMAB","MMACHC","MMP23B","MOCS1","MOGS","MRAS","MRPS16","MSX1","MT-TE","MT-TL1","MTHFR","MTM1","MTR","MTRFR","MYH3","MYL2","MYO1H","MYO9A","NAA20","NACC1","NADK2","NALCN","NAPB","NDN","NDUFAF8","NDUFS4","NDUFS8","NECTIN1","NFIX","NFKBIA","NIPBL","NLRC4","NODAL","NONO","NPAP1","NRAS","NRCAM","NSD1","NUDT2","NUP214","OCA2","OCRL","ODC1","OFD1","OPA1","ORC1","OTUD5","PANK2","PARS2","PAX8","PCCA","PCCB","PCGF2","PDE10A","PDE6D","PDGFRA","PDHA1","PDPN","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PGAP1","PGAP2","PGAP3","PHF6","PHIP","PIBF1","PIEZO2","PIGL","PIGN","PIGO","PIGQ","PIGT","PIGU","PIGV","PIGW","PIGY","PLAA","PLAG1","PLCH1","PLXND1","PMM2","PNPO","PNPT1","POGZ","POLR1B","POLR3K","POMT1","POMT2","POU1F1","PPP1CB","PPP1R21","PPP2R1A","PQBP1","PRDM16","PRDX1","PRKCSH","PRKCZ","PROP1","PRPS1","PRUNE1","PSAP","PSAT1","PTCH1","PTPN11","PTPN23","PTS","PUF60","PURA","PWAR1","PWRN1","RAB3GAP1","RAB3GAP2","RAC1","RAD21","RAF1","RAI1","RALGAPA1","RAPSN","RARS2","RASA2","RERE","RETREG1","REV3L","RHBDF2","RIC1","RIT1","RNF13","RNF2","RNF6","RPGRIP1L","RPL10","RPS6KA3","RRAS","RRAS2","RREB1","RTL1","RYR1","SAMHD1","SATB2","SCN1A","SCN3A","SCN4A","SCN9A","SCNN1A","SCNN1B","SCNN1G","SCO1","SCYL2","SDHA","SDHAF1","SDHB","SDHD","SEC24C","SEC63","SELENON","SEMA3E","SEPSECS","SETBP1","SH3BP2","SHH","SIGMAR1","SIK1","SIM1","SIN3A","SIX3","SKI","SLC16A2","SLC18A3","SLC1A4","SLC25A1","SLC25A19","SLC25A22","SLC46A1","SLC52A1","SLC5A5","SLC5A6","SLC5A7","SLC6A8","SLC9A6","SMARCB1","SMARCC2","SMARCD1","SMC1A","SMC3","SMPD1","SNAP25","SNORD115-1","SNORD116-1","SNRPN","SON","SOS1","SOS2","SOX11","SPATA5","SPEN","SPG11","SPOP","SPRED2","SPTBN1","SPTBN4","SPTLC1","SRP54","ST3GAL5","STAG2","STIL","SUCLA2","SUFU","SUPT16H","SUZ12","SYNE1","SYNGAP1","SYT2","TALDO1","TANGO2","TBC1D20","TBC1D24","TBCK","TBX1","TCEAL1","TCTN1","TCTN2","TCTN3","TDGF1","TET3","TFG","TG","TGFB1","TGFBR2","TGIF1","TIMM22","TIMMDC1","TK2","TMEM216","TMEM218","TMEM237","TMEM67","TOGARAM1","TOP3A","TOPORS","TOR1A","TP63","TPM2","TPM3","TPO","TRAF3IP2","TRAPPC12","TRAPPC4","TREX1","TRIO","TRIP4","TRMT10C","TRMU","TSEN15","TSEN2","TSEN34","TSEN54","TSFM","TSHB","TSHR","TSPYL1","TTC21B","TUBB3","TUBB6","TXN2","TXNL4A","UBA1","UBB","UBE3A","UBE3B","UBE4B","UBTF","UFD1","UGDH","UGP2","UNC45B","UNC80","UQCRC2","UQCRFS1","USP7","VAMP1","VPS13B","VPS35L","VRK1","WASHC5","WDR19","WDR26","WFS1","WNK1","WWOX","YIF1B","YY1","ZIC2","ZMIZ1","ZNF699","ZNHIT3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DISPROPORTIONATE_SHORT_LIMB_SHORT_STATURE":{"collection":"C5:HPO","systematicName":"M37301","pmid":"","exactSource":"HP:0008873","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008873","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DISPROPORTIONATE_SHORT_LIMB_SHORT_STATURE","geneSymbols":["ACAN","AGPS","ALG12","ALG9","ALPL","ARCN1","ASXL1","B3GAT3","B3GLCT","BMPR1B","CANT1","CEP120","CEP57","CFAP410","CHST3","CLPB","COG1","COL10A1","COL11A1","COL1A1","COL1A2","COL2A1","COMP","CREB3L1","CRTAP","CSGALNACT1","CSPP1","CTSK","DDR2","DDRGK1","DHCR24","DHCR7","DVL1","DYM","DYNC2H1","DYNC2I1","DYNC2I2","DYNC2LI1","EBP","EVC","EVC2","FGFR1","FGFR2","FGFR3","FLNB","FZD2","GDF5","GLI1","GNPAT","GPC6","GPX4","GSC","HDAC6","HS2ST1","HSPG2","IFT122","IFT140","IFT43","IFT52","IFT80","IHH","INPPL1","KDELR2","KIAA0586","KIAA0753","KMT2A","KYNU","LBR","MAB21L2","MATN3","MBTPS2","MESD","MIR140","MMP13","MTOR","MYSM1","NSMCE2","NXN","P3H1","PCYT1A","PEX7","PKDCC","POC1A","PPIB","PRKACA","PRKACB","PRKAR1A","PRKG2","PTH1R","RMRP","ROR2","SERPINH1","SHOX","SIK3","SLC26A2","SLC35D1","SLC39A8","SOX9","TBX15","TONSL","TRIP11","TRPV4","WDR19","WDR35","WNT5A","XRCC4","XYLT1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ADIPOSE_TISSUE_LOSS":{"collection":"C5:HPO","systematicName":"M37302","pmid":"","exactSource":"HP:0008887","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008887","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ADIPOSE_TISSUE_LOSS","geneSymbols":["AARS1","AGPAT2","BLM","BSCL2","CARS1","CAV1","CAVIN1","CIDEC","ERCC2","ERCC3","ERCC4","ERCC6","ERCC8","FBN1","FOS","GTF2E2","GTF2H5","INSR","KCNJ6","LIPE","LMNA","LMNB2","MPLKIP","PIK3R1","PLIN1","POLD1","POLR3A","PPARG","PRIM1","PSMB8","RNF113A","TARS1","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SEVERE_SHORT_LIMB_DWARFISM":{"collection":"C5:HPO","systematicName":"M37303","pmid":"","exactSource":"HP:0008890","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008890","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEVERE_SHORT_LIMB_DWARFISM","geneSymbols":["FLNB","GDF5","LBR","NSMCE2","XRCC4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_POSTNATAL_GROWTH_RETARDATION":{"collection":"C5:HPO","systematicName":"M37304","pmid":"","exactSource":"HP:0008897","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008897","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POSTNATAL_GROWTH_RETARDATION","geneSymbols":["ACTB","ADAMTS2","ADAMTS3","AKR1D1","ALDH18A1","ANKRD17","ANKRD55","ARG1","ARID1A","ARID1B","ARID2","ARSL","ATP6V0A2","ATP6V1A","ATP6V1E1","ATP9A","ATR","ATRX","B3GALT6","B3GLCT","BLM","BNC2","BRAF","BRD4","BRIP1","BUB1B","CACNA1C","CASK","CBL","CCBE1","CCDC22","CD247","CDAN1","CDC42","CDK10","CDKN1C","CHD1","CHD7","CKAP2L","COG1","COG4","COG7","COLEC10","COLEC11","COQ7","CPLX1","CREBBP","CTBP1","CTC1","CTNNB1","CUL7","CYP11B2","CYP27B1","CYP2R1","DCX","DDX11","DDX3X","DHODH","DLK1","DMXL2","DNAJC19","DPF2","DPYSL5","DYM","EBP","ELAC2","ELN","EMG1","EP300","EPB41","EPG5","ERCC4","ERCC6","ERCC8","ESCO2","FAM111A","FAT4","FBLN5","FGFRL1","FIG4","FLNA","FLNC","FOXP2","FRA10AC1","GATA3","GHSR","GINS1","GJB2","GJB6","GM2A","GNA11","GNPTAB","GRB10","GUSB","GYPC","H19","HDAC8","HLA-DQA1","HLA-DQB1","HMGA2","HYMAI","IARS1","IGF1","IGF2","IGFALS","IL2RA","IL2RB","INSR","KANSL1","KCNJ6","KDM6A","KIF15","KIF20A","KIF7","KMT2A","KMT2D","LARP7","LETM1","LHX4","LIG4","LMNA","MAF","MAP2K1","MASP1","MBD5","MCM4","MCTP2","MED12","MEG3","MGAT2","MTRR","MTX2","MYH3","MYPN","NAA10","NAE1","NALCN","NBAS","NDE1","NEXMIF","NIN","NIPBL","NSD2","NSUN2","OCRL","PALB2","PAM16","PAPPA2","PCNT","PCYT1A","PDE4D","PHKB","PHKG2","PIEZO2","PLAG1","PLAGL1","PLOD3","POU1F1","POU3F4","PPP1R15B","PRIM1","PRKAR1A","PSPH","PTPN11","PTPN2","PTPN22","PTRH2","PYGL","RAB18","RAB3GAP2","RAD21","RERE","RNPC3","RNU4ATAC","ROBO1","RPL10","RPL13","RTEL1","RTL1","RYR1","SALL4","SATB2","SCUBE3","SEC24D","SEMA3E","SETBP1","SHPK","SIN3A","SIX6","SLC2A1","SLC2A2","SLC4A2","SLC5A2","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SMC1A","SMC3","SMOC1","SNRPB","SOX11","SOX2","SOX4","SPTA1","SPTB","STAT4","STAT5B","SYNE1","TAF1","TBC1D20","TBCE","TCEAL1","TCF4","TFAP2A","TGDS","TMCO1","TNNI3","TNNT2","TRAPPC2","TRMT10A","TSHB","TUBB3","UFSP2","UQCC3","VAC14","VPS35L","WASHC5","WFS1","XYLT1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RHIZOMELIA":{"collection":"C5:HPO","systematicName":"M37305","pmid":"","exactSource":"HP:0008905","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008905","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RHIZOMELIA","geneSymbols":["ACAN","AGPS","ALG12","ALG9","ARCN1","ASXL1","B3GAT3","B3GLCT","CEP120","CEP57","CFAP410","CHST3","CLPB","COG1","COL11A1","COL2A1","CREB3L1","CRTAP","CSPP1","CTSK","DHCR24","DHCR7","DVL1","DYM","EBP","FGFR1","FGFR2","FGFR3","FLNB","FZD2","GDF5","GNPAT","GPC6","GPX4","GSC","HDAC6","IFT122","IFT140","IFT43","IFT52","IFT80","INPPL1","KIAA0586","KMT2A","KYNU","LBR","MAB21L2","MBTPS2","MMP13","MTOR","MYSM1","PCYT1A","PEX7","PKDCC","POC1A","PRKG2","PTH1R","RMRP","SERPINH1","SHOX","SIK3","SLC26A2","TBX15","TONSL","WDR19","WDR35","WNT5A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CHILDHOOD_ONSET_TRUNCAL_OBESITY":{"collection":"C5:HPO","systematicName":"M37306","pmid":"","exactSource":"HP:0008915","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008915","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHILDHOOD_ONSET_TRUNCAL_OBESITY","geneSymbols":["INPP5E","MC4R","PCSK1","POMC","VPS13B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NEONATAL_SHORT_LIMB_SHORT_STATURE":{"collection":"C5:HPO","systematicName":"M37307","pmid":"","exactSource":"HP:0008921","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008921","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEONATAL_SHORT_LIMB_SHORT_STATURE","geneSymbols":["COL1A1","COL1A2","COL2A1","DYNC2LI1","EVC","EVC2","FGFR3","GLI1","PRKACA","PRKACB","PTH1R","RMRP","SLC26A2","SOX9"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_GENERALIZED_NEONATAL_HYPOTONIA":{"collection":"C5:HPO","systematicName":"M37308","pmid":"","exactSource":"HP:0008935","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008935","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENERALIZED_NEONATAL_HYPOTONIA","geneSymbols":["ADNP","ATP2B3","BPTF","COG4","EEF1A2","FIG4","GDAP1","MECP2","MED12","MT-TT","MTHFR","PEX10","PEX12","PEX16","PEX26","PEX3","PEX6","PSMD12","SUCLG1","SYNE1","TBC1D24","VAC14"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_AXIAL_HYPOTONIA":{"collection":"C5:HPO","systematicName":"M37309","pmid":"","exactSource":"HP:0008936","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008936","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AXIAL_HYPOTONIA","geneSymbols":["AARS1","ABCC8","ACER3","ACSF3","ACTL6B","ADAR","ADARB1","ADCY5","AIMP1","ALG11","ALG3","ALG6","AMFR","AMPD2","AP3B2","AP3D1","AP4S1","ARFGEF1","ARV1","ARX","ASH1L","ASNS","ASXL1","ATAD3A","ATG7","B4GALT1","B9D1","BCS1L","BRAT1","CACNA1C","CACNA1E","CACNA1G","CACNA2D1","CACNA2D2","CAMK2A","CAMK2B","CAMLG","CAMTA1","CASK","CDH2","CDON","CEP85L","CERT1","CHMP1A","CHP1","CLCN6","CLDN11","CLP1","COG4","COQ8A","CTNNB1","DARS1","DCX","DDC","DDX6","DENND5A","DHDDS","DHPS","DISP1","DLL1","DNAJC12","DNM1L","DOCK6","DPAGT1","EARS2","EBF3","EBP","EIF2AK2","EIF2S3","ELP2","EMC1","ERCC1","ERCC6","ERCC8","EXOSC3","EXOSC9","EXTL3","FAR1","FARS2","FARSB","FBXO28","FDXR","FGF12","FGF8","FGFR1","FOXH1","FOXP2","FZR1","GAD1","GALC","GAS1","GDI1","GFER","GFM1","GFM2","GJA5","GJA8","GJC2","GLI2","GLS","GLYCTK","GM2A","GNB1","GNPTAB","GOSR2","GPHN","GRIA3","GRIK2","GRIN1","GRIN2A","GRIN2B","GRIN2D","GRM1","GRM7","GUF1","H4C5","HACE1","HEXB","HIKESHI","HK1","HTT","HYCC1","IER3IP1","IFIH1","INSR","IREB2","KARS1","KAT6A","KCNJ11","KCNMA1","KCNQ2","KCNQ3","KIDINS220","KIF1A","LGI3","LIPT1","LIPT2","LMNB1","LMX1B","LRRC32","LSM11","LYRM7","MACF1","MAN2B1","MBOAT7","MDH1","MECP2","MED11","MED23","MEGF10","MFF","MICOS13","MINPP1","MKS1","MRPL12","MRPS22","NALCN","NAPB","NARS2","NAXD","NDUFA1","NDUFA13","NDUFA6","NDUFB11","NDUFC2","NDUFS1","NDUFS2","NDUFV2","NECAP1","NEDD4L","NEUROD2","NEXMIF","NFIX","NFU1","NHLRC2","NMNAT1","NODAL","NONO","NRROS","NSMCE3","NSRP1","NSUN2","NUS1","OCLN","OPA1","OSTM1","PAFAH1B1","PAM16","PARS2","PAX7","PCBD1","PCCA","PCCB","PCDH12","PCGF2","PCLO","PDE10A","PDE2A","PDHX","PDP1","PEX14","PEX3","PGAP1","PIGA","PIGP","PIGY","PIK3R2","PLA2G6","PLCB1","PLCH1","PLP1","PMM2","PNPO","PNPT1","PPP1R15B","PRDM13","PRPS1","PRR12","PRUNE1","PSAP","PSAT1","PSMC1","PTCH1","PTPN23","PTS","PYCR2","RAB18","RAB3GAP2","RARS1","RARS2","REPS1","RNASEH2A","RNASEH2B","RNASEH2C","RNU12","RNU7-1","ROBO3","RRM2B","RTTN","RUSC2","RYR1","SAMHD1","SATB1","SCN1A","SCO1","SDHB","SEPSECS","SET","SHH","SIX3","SLC13A5","SLC16A2","SLC18A2","SLC19A3","SLC1A2","SLC25A12","SLC25A19","SLC30A9","SLC31A1","SLC35A2","SLC35B2","SLC38A3","SLC39A14","SLC6A3","SLC6A8","SLC6A9","SMC1A","SMG9","SOD1","SOX10","SOX4","SPATA5","SPEG","SPR","STAG2","STIL","STXBP1","SUCLG1","SUOX","TARS2","TBC1D2B","TBCE","TDGF1","TGIF1","TH","TIAM1","TMTC3","TNR","TRAPPC12","TREX1","TRMT10A","TRNT1","TSEN15","TSEN2","TSEN34","TSEN54","TUBB3","TUBB4A","TUBGCP2","UBA5","UBE3B","UFC1","UGDH","UGP2","UNC80","UQCRQ","VAMP2","VPS11","VPS13D","VPS41","WARS2","WDR45B","WDR73","WWOX","YIF1B","ZIC2","ZNF142","ZNF526","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_GENERALIZED_LYMPHADENOPATHY":{"collection":"C5:HPO","systematicName":"M41370","pmid":"","exactSource":"HP:0008940","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008940","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENERALIZED_LYMPHADENOPATHY","geneSymbols":["DCLRE1C","HLA-DRB1","IFIH1","IFNGR1","LRBA","NFATC2","PRKCD","RAC2","RNF168","TNFRSF9"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ACUTE_RHABDOMYOLYSIS":{"collection":"C5:HPO","systematicName":"M37310","pmid":"","exactSource":"HP:0008942","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008942","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACUTE_RHABDOMYOLYSIS","geneSymbols":["CACNA1S","CTDP1","LPIN1","RYR1","TANGO2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DISTAL_LOWER_LIMB_AMYOTROPHY":{"collection":"C5:HPO","systematicName":"M37311","pmid":"","exactSource":"HP:0008944","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008944","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DISTAL_LOWER_LIMB_AMYOTROPHY","geneSymbols":["AARS1","ADSS1","AIFM1","ALS2","ATL1","ATXN3","B4GALNT1","BICD2","BSCL2","CADM3","CPT1C","CUL4B","DNAJB2","DYSF","FBLN5","FGD4","FLNC","FLRT1","GIPC1","GJB1","GNB4","HINT1","HK1","HSPB1","HSPB3","INF2","KDM5C","KIF5A","KLC2","KRT14","KRT5","LMNA","LRP12","MAG","MFN2","MME","MORC2","MT-TE","MTRFR","MYH7","NEFL","NOTCH2NLC","PDK3","PMP22","RAB7A","RILPL1","RYR1","SLC12A6","SPG11","TCAP","TFG","TPM3","TRPV4","WARS1","YY1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PELVIC_GIRDLE_AMYOTROPHY":{"collection":"C5:HPO","systematicName":"M46142","pmid":"","exactSource":"HP:0008946","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008946","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PELVIC_GIRDLE_AMYOTROPHY","geneSymbols":["CAPN3","GYG1","SMN1","SMN2","VCP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INFANTILE_MUSCULAR_HYPOTONIA":{"collection":"C5:HPO","systematicName":"M37312","pmid":"","exactSource":"HP:0008947","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008947","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INFANTILE_MUSCULAR_HYPOTONIA","geneSymbols":["AASS","ACADS","ACADVL","ADAR","ADAT3","ADGRG1","ADNP","AHCY","ALG11","ARID1A","ARID1B","ARID2","ARX","ASAH1","ASXL3","ATP10A","ATP6V0A2","ATP6V1A","ATP6V1B2","ATP6V1E1","ATRX","B4GALT1","BMP2","CAMK2A","CASK","CDC42","CDKL5","CDON","CLCN4","CLTCL1","COG5","COG8","COL5A1","CPE","CWF19L1","DAG1","DCHS1","DEAF1","DISP1","DLK1","DLL1","DMXL2","DNMT3A","DOLK","DPAGT1","DPF2","DPM1","DPYD","EBF3","ERMARD","EXTL3","FAT4","FGF8","FGFR1","FGFR3","FKRP","FOXH1","GAA","GABRA1","GABRG2","GALC","GAMT","GAS1","GATAD2B","GFER","GFM2","GLB1","GLI2","GLYCTK","GM2A","GMPPB","GNAO1","GNB1","GRIN1","GRIN2A","GRM7","GTPBP3","H19","H4C5","HEXB","IGF2","ITCH","KCNA1","KCNH1","KCNJ11","KCNMA1","KCNN3","KIF15","LARGE1","LRP5","MAF","MAGEL2","MAN1B1","MAN2B1","MECP2","MED12","MEG3","MFF","MOGS","MPDU1","MT-ATP6","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND5","MT-ND6","MT-TK","MT-TL1","MT-TV","MT-TW","MTRFR","NACC1","NAGS","NALCN","NEK1","NEU1","NEUROD2","NKX2-1","NODAL","NTNG2","NUP54","NUP62","OCA2","PACS1","PAX7","PCDH19","PEX13","PGAP2","PGAP3","PI4KA","PIGL","PIGO","PIGP","PIGQ","PIGV","PIGW","PIGY","PLCH1","PNKP","POGZ","POMT1","POMT2","PRMT7","PRUNE1","PSAP","PSAT1","PTCH1","RAC1","RAI1","RARS1","RNU12","RPL10","RTL1","RTTN","RYR1","SARDH","SATB2","SCN1A","SCN1B","SCN2A","SCN9A","SEPSECS","SHH","SIAH1","SIK1","SIM1","SIX3","SLC19A3","SLC25A22","SLC32A1","SLC35A2","SLC39A14","SLC7A7","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SMC1A","SMS","SNRPN","SON","SOX11","SOX4","SPATA5","SRD5A3","SRPX2","STAG2","STIL","SUCLG1","SUOX","SYT1","TBC1D24","TBCD","TDGF1","TELO2","TGIF1","TNNT1","TRAPPC11","TRIM8","TRPS1","TSEN15","TSEN2","TSEN34","TSEN54","TUBB2B","TUBB3","UBA1","UBE3A","UBTF","UGT1A1","UNC80","USP9X","WARS2","ZEB2","ZIC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INTRINSIC_HAND_MUSCLE_ATROPHY":{"collection":"C5:HPO","systematicName":"M37313","pmid":"","exactSource":"HP:0008954","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008954","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTRINSIC_HAND_MUSCLE_ATROPHY","geneSymbols":["CAV3","CHCHD10","CHRNA1","DYSF","FLNC","GDAP1","HARS1","HINT1","HSPB3","JAG1","KIF1A","KLHL9","LDB3","MORC2","MPZ","NGLY1","PDK3","PMP22","PRX","RYR1","SLC12A6","SPTLC1","SQSTM1","SVBP","TIA1","TIMM8A","TRIM2","VCP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DISTAL_UPPER_LIMB_MUSCLE_WEAKNESS":{"collection":"C5:HPO","systematicName":"M37314","pmid":"","exactSource":"HP:0008959","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008959","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DISTAL_UPPER_LIMB_MUSCLE_WEAKNESS","geneSymbols":["ADSS1","ANO5","ATP1A2","CACNA1A","CADM3","DDHD2","DYSF","FBLN5","FLNC","GDAP1","GIPC1","GMPPB","GNB4","HARS1","HK1","HSPB3","JAG2","LMNA","LRP12","MLIP","MME","MORC2","NDRG1","NEFL","NOTCH2NLC","PRRT2","RILPL1","RYR1","SBF2","SCN1A","SMPX","SORD","SPG11","SPTLC2","SQSTM1","TIA1","TNR","TRPV4","TTN","VCP","VWA1","WARS1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_TIBIALIS_MUSCLE_WEAKNESS":{"collection":"C5:HPO","systematicName":"M37315","pmid":"","exactSource":"HP:0008963","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008963","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TIBIALIS_MUSCLE_WEAKNESS","geneSymbols":["DYSF","GIPC1","GNE","LRP12","MTRFR","NOTCH2NLC","RILPL1","TTN"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_EXERCISE_INDUCED_MUSCLE_STIFFNESS":{"collection":"C5:HPO","systematicName":"M37316","pmid":"","exactSource":"HP:0008967","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008967","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EXERCISE_INDUCED_MUSCLE_STIFFNESS","geneSymbols":["ATP2A1","CAV3","MLIP","PFKM","PHKA1","PYGM","SCN4A","SLC16A1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MUSCLE_HYPERTROPHY_OF_THE_LOWER_EXTREMITIES":{"collection":"C5:HPO","systematicName":"M37317","pmid":"","exactSource":"HP:0008968","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008968","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MUSCLE_HYPERTROPHY_OF_THE_LOWER_EXTREMITIES","geneSymbols":["ANO5","AR","BIN1","CAPN3","CAV3","CHCHD10","CIDEC","CLCN1","CRPPA","DAG1","DHX16","DMD","DNM2","DPM3","DYSF","FKRP","FKTN","FRG1","GMPPB","KCNA1","LAMA2","LARGE1","LIMS2","LMNA","LTBP4","MAP3K20","MICU1","MTMR14","MYF6","MYH7","PLEC","PLIN1","PMP22","POMGNT1","POMGNT2","POMT1","POMT2","POPDC3","RASA1","RYR1","SGCA","SGCB","SGCD","SGCG","SLC25A1","SMN1","SPG11","SRY","TCAP","TTN","UNC45B","VAPB"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LEG_MUSCLE_STIFFNESS":{"collection":"C5:HPO","systematicName":"M37318","pmid":"","exactSource":"HP:0008969","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008969","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LEG_MUSCLE_STIFFNESS","geneSymbols":["ABCD1","ANO10","ATP13A2","CRYAB","DARS2","DNAJC6","KIF1A","KIF5A","LDB3","MT-ATP6","PI4KA","PODXL","SPAST","SYNJ1","VAMP1","ZFYVE26"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PELVIC_GIRDLE_MUSCLE_ATROPHY":{"collection":"C5:HPO","systematicName":"M47137","pmid":"","exactSource":"HP:0008988","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008988","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PELVIC_GIRDLE_MUSCLE_ATROPHY","geneSymbols":["ANO5","LMNA","SGCB","TRIM32","VCP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PROXIMAL_MUSCLE_WEAKNESS_IN_LOWER_LIMBS":{"collection":"C5:HPO","systematicName":"M37319","pmid":"","exactSource":"HP:0008994","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008994","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROXIMAL_MUSCLE_WEAKNESS_IN_LOWER_LIMBS","geneSymbols":["ADSS1","ANO5","ANXA11","ATP7B","BICD2","BIN1","CHCHD10","COL12A1","COL6A1","COL6A2","COL6A3","CPOX","CRPPA","CRYAB","DMD","DMXL2","DNM2","DYNC1H1","DYSF","EMD","FHL1","FLNC","GDAP1","GNE","HEXB","HMBS","HNRNPA1","HSPG2","JAG2","LAMA2","LIPE","LMNA","MB","MFN2","MLIP","MORC2","MTMR14","MYF6","MYH7","NEFL","PHKA1","PIGN","POGLUT1","POLG","POLG2","POPDC3","REEP1","RRM2B","RYR1","SBF2","SCN4A","SECISBP2","SLC25A4","SMN1","SMPX","SORD","SPG11","SYNE1","SYNE2","TCAP","TMEM43","TNNT1","TRIM32","TTN","TWNK","VCP","VMA21","VWA1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PROXIMAL_MUSCLE_WEAKNESS_IN_UPPER_LIMBS":{"collection":"C5:HPO","systematicName":"M37320","pmid":"","exactSource":"HP:0008997","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0008997","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROXIMAL_MUSCLE_WEAKNESS_IN_UPPER_LIMBS","geneSymbols":["ADSS1","AGRN","AK9","ANO5","ANXA11","BIN1","CHCHD10","CHRNA1","CHRNB1","CHRND","CHRNE","COL13A1","CPOX","CRPPA","DNM2","DOK7","DYSF","EMD","FBXO38","FHL1","GDAP1","GIPC1","GMPPB","HMBS","JAG1","JAG2","KY","LAMA2","LDB3","LIPE","LMNA","LPIN1","LRP12","LRP4","MFN2","MORC2","MT-CO1","MT-CO3","MTMR14","MUSK","MYF6","NEFL","NOTCH2NLC","OBSCN","POMT1","PPOX","RAPSN","RILPL1","RYR1","SBF2","SCN4A","SLC12A6","SMPX","SPG11","SYNE1","SYNE2","TCAP","TMEM43","TRPV4","VCP","VWA1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPOPLASIA_OF_THE_MUSCULATURE":{"collection":"C5:HPO","systematicName":"M37321","pmid":"","exactSource":"HP:0009004","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009004","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASIA_OF_THE_MUSCULATURE","geneSymbols":["ACTA1","ALG9","ATP6V0A2","CAV3","COLEC11","FBN2","FLNA","FLVCR2","GLE1","HACD1","HBB","ITGA7","MAP3K20","MAP3K7","MYL2","MYMK","PMP22","RBM8A","SALL4","SCN4A","SELENON","TPM2","TPM3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_WEAKNESS_OF_THE_INTRINSIC_HAND_MUSCLES":{"collection":"C5:HPO","systematicName":"M37322","pmid":"","exactSource":"HP:0009005","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009005","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WEAKNESS_OF_THE_INTRINSIC_HAND_MUSCLES","geneSymbols":["AGRN","AK9","CADM3","CAV3","CHRNA1","CHRNB1","CHRND","CHRNE","COL13A1","DOK7","DYSF","FBXO38","HINT1","KLHL9","LDB3","LRP4","MB","MUSK","NEB","RAPSN","SCN4A","SIGMAR1","STIM1","VCP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_EXERCISE_INDUCED_MUSCLE_FATIGUE":{"collection":"C5:HPO","systematicName":"M37323","pmid":"","exactSource":"HP:0009020","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009020","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EXERCISE_INDUCED_MUSCLE_FATIGUE","geneSymbols":["AMPD1","AMPD3","CACNA1S","DBH","GABRA3","KCNE3","KCNJ18","PFKM","PGK1","SCN4A","SLC16A1","TRAPPC11"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABDOMINAL_WALL_MUSCLE_WEAKNESS":{"collection":"C5:HPO","systematicName":"M37324","pmid":"","exactSource":"HP:0009023","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009023","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABDOMINAL_WALL_MUSCLE_WEAKNESS","geneSymbols":["ANXA11","CAPN3","CYP27B1","FRG1","GYG1","HNRNPA1","MAP2K2","NF1","PIGQ","PTEN","SKI","SMCHD1","VDR"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INCREASED_CONNECTIVE_TISSUE":{"collection":"C5:HPO","systematicName":"M37325","pmid":"","exactSource":"HP:0009025","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009025","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_CONNECTIVE_TISSUE","geneSymbols":["ACTA1","AIFM1","AKT2","ANO5","CHCHD10","DYSF","GATA1","INPP5K","KLHL40","KLHL41","LAMA2","LIMS2","LIPE","LMNA","LMOD3","MC4R","MT-TK","NEB","NEFL","PCSK1","PLEC","POLR3A","POMC","RYR1","TCAP","TNXB","UROS"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FOOT_DORSIFLEXOR_WEAKNESS":{"collection":"C5:HPO","systematicName":"M37326","pmid":"","exactSource":"HP:0009027","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009027","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOOT_DORSIFLEXOR_WEAKNESS","geneSymbols":["AARS1","ACTA1","ACTN2","ADSS1","ALDH18A1","ATL1","ATL3","ATP1A1","BSCL2","CADM3","CFL2","COA7","COL12A1","COL6A1","COL6A2","COL6A3","COX20","COX6A1","CRYAB","DES","DNAJB2","DYSF","EGR2","FA2H","FHL1","FLNC","GBF1","GDAP1","GIPC1","GJB1","GNB2","GNE","GYG1","HACD1","HINT1","HNRNPA1","HSPB1","IGHMBP2","INF2","ITGA7","JAG1","KARS1","KIF1A","KIF1B","KLHL41","KY","LBR","LDB3","LIG3","LMNA","LMOD3","LRP12","LRSAM1","LYST","MAP3K20","MARS1","MCM3AP","MFN2","MME","MORC2","MPV17","MPZ","MTRFR","MYH7","MYL2","MYOT","NEB","NEFL","NF2","NOTCH2NLC","ORAI1","PLIN4","PMP22","PNPLA2","POLG","PRX","RAB7A","RAI1","REEP1","RILPL1","RRM2B","SACS","SBF2","SCO2","SELENON","SH3TC2","SIGMAR1","SLC12A6","SLC25A21","SMCHD1","SPG11","SPTLC1","SPTLC2","SQSTM1","SYT2","TBCE","TCAP","TIA1","TNNT1","TPM2","TPM3","TRPV4","TTN","TYMP","VCP","VWA1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_GENERALIZED_WEAKNESS_OF_LIMB_MUSCLES":{"collection":"C5:HPO","systematicName":"M46144","pmid":"","exactSource":"HP:0009028","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009028","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENERALIZED_WEAKNESS_OF_LIMB_MUSCLES","geneSymbols":["ALG14","ALG2","DPAGT1","GFPT1","GMPPB"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_EXERCISE_INDUCED_RHABDOMYOLYSIS":{"collection":"C5:HPO","systematicName":"M43365","pmid":"","exactSource":"HP:0009045","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009045","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EXERCISE_INDUCED_RHABDOMYOLYSIS","geneSymbols":["ACADVL","ALDOA","CACNA1S","LDHA","PYGM","RYR1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DIFFICULTY_RUNNING":{"collection":"C5:HPO","systematicName":"M37328","pmid":"","exactSource":"HP:0009046","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009046","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DIFFICULTY_RUNNING","geneSymbols":["ADSS1","AGRN","ALG14","ALG2","ANO5","ATP2A1","BICD2","BIN1","COL12A1","DNAJB6","DPAGT1","DYNC1H1","DYSF","FBXO38","FHL1","FKRP","FLNC","GFPT1","GMPPB","KBTBD13","KCNC3","KY","LAMA2","MEGF10","MFN2","MICU1","MORC2","MT-TE","MYH7","MYPN","NEFL","PEX2","PNPLA2","POPDC3","PYROXD1","RAPSN","REEP1","RYR1","RYR3","SFXN4","SGCG","SPEG","STIM1","TCAP","TNNT1","TNPO3","TPM2","TPM3","TTN","VCP","VMA21","YARS1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PERONEAL_MUSCLE_ATROPHY":{"collection":"C5:HPO","systematicName":"M37329","pmid":"","exactSource":"HP:0009049","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009049","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERONEAL_MUSCLE_ATROPHY","geneSymbols":["ANO5","DES","HINT1","LMNA","PMP22","REEP1","SACS","TRPV4","TTN","VPS13A","WASHC5"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_QUADRICEPS_MUSCLE_ATROPHY":{"collection":"C5:HPO","systematicName":"M47138","pmid":"","exactSource":"HP:0009050","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009050","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_QUADRICEPS_MUSCLE_ATROPHY","geneSymbols":["ADSS1","ANO5","RYR1","SMN1","SPTLC1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INCREASED_MUSCLE_GLYCOGEN_CONTENT":{"collection":"C5:HPO","systematicName":"M37330","pmid":"","exactSource":"HP:0009051","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009051","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_MUSCLE_GLYCOGEN_CONTENT","geneSymbols":["ENO3","GAA","MSTO1","MT-TE","PFKM","PHKA1","PHKA2","PHKB","PHKG2","PYGM","TRMU"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DISTAL_LOWER_LIMB_MUSCLE_WEAKNESS":{"collection":"C5:HPO","systematicName":"M37331","pmid":"","exactSource":"HP:0009053","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009053","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DISTAL_LOWER_LIMB_MUSCLE_WEAKNESS","geneSymbols":["ABCD1","ADSS1","AGRN","AIFM1","ANO5","ATL1","BICD2","BSCL2","CCND1","CHAT","CHCHD10","COL13A1","CPT1C","DDHD2","DES","DHTKD1","DNM2","DYSF","EGR2","EMILIN1","EXTL3","FBLN5","FGD4","FKTN","FLNC","GARS1","GDAP1","GIPC1","GJB1","GMPPB","GNB4","GNE","GYG1","HARS1","HINT1","HK1","HSPB1","HSPB3","HSPB8","IBA57","JAG2","KIF1A","LMNA","LRP12","MAPT","MATR3","MFN2","MME","MORC2","MPZ","MT-ATP6","MTMR14","MTRFR","MTTP","MYH7","MYO9A","NDRG1","NEFL","NOTCH2NLC","PLEC","PMP2","PMP22","PNKP","PNPLA6","PRX","RAB7A","REEP1","RILPL1","SARDH","SBF1","SBF2","SCYL1","SECISBP2","SLC12A6","SLC18A3","SLC25A1","SLC5A6","SLC5A7","SMPX","SNAP25","SORD","SPG11","SPTLC2","SYT2","TCAP","TDP1","TPM3","TRPV4","TTN","VAMP1","VCP","VHL","VWA1","WARS1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_GENERALIZED_LIMB_MUSCLE_ATROPHY":{"collection":"C5:HPO","systematicName":"M37332","pmid":"","exactSource":"HP:0009055","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009055","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENERALIZED_LIMB_MUSCLE_ATROPHY","geneSymbols":["ACTA1","CARS1","DARS2","GMPPB","KBTBD13","KLHL41","MEGF10","MYH7","MYPN","NEB","PNPLA2","PNPLA6","PUS1","SCO2","SCYL1","SGCD","SPG11","TPM2","TPM3","YARS2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INCREASED_MUSCLE_LIPID_CONTENT":{"collection":"C5:HPO","systematicName":"M37333","pmid":"","exactSource":"HP:0009058","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009058","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_MUSCLE_LIPID_CONTENT","geneSymbols":["ABHD5","ACTA1","AFG3L2","CACNA1S","CHCHD10","COL12A1","COL25A1","COL6A1","COL6A2","COL6A3","COQ8A","COX6A2","CPT2","GABRA3","ISCU","KBTBD13","KCNE3","KCNJ18","KLHL41","MIPEP","MSTO1","MT-TE","MT-TN","MT-TS1","MYH7","MYPN","NDUFA4","NDUFS4","NEB","PNPLA2","SCN4A","SDHA","SELENON","STAC3","SUCLG1","SURF1","TPM2","TPM3","TRMU","TTN","ZFHX4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INFANTILE_AXIAL_HYPOTONIA":{"collection":"C5:HPO","systematicName":"M37334","pmid":"","exactSource":"HP:0009062","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009062","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INFANTILE_AXIAL_HYPOTONIA","geneSymbols":["B4GALT1","CAMK2A","CDON","DISP1","DLL1","DPAGT1","EXTL3","FGF8","FGFR1","FOXH1","GALC","GAS1","GFER","GFM2","GLI2","GM2A","GNB1","GRIN2A","HEXB","MAN2B1","MFF","NODAL","PAX7","PLCH1","PRUNE1","PSAP","PSAT1","PTCH1","RARS1","RNU12","RTTN","RYR1","SEPSECS","SHH","SIX3","SLC39A14","SMC1A","STAG2","STIL","TDGF1","TGIF1","TSEN15","TSEN2","TSEN34","TSEN54","TUBB3","WARS2","ZIC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PROGRESSIVE_DISTAL_MUSCLE_WEAKNESS":{"collection":"C5:HPO","systematicName":"M37335","pmid":"","exactSource":"HP:0009063","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009063","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROGRESSIVE_DISTAL_MUSCLE_WEAKNESS","geneSymbols":["CAV3","CRYAB","GIPC1","HADHA","HADHB","KLHL9","LDB3","LRP12","MYH14","MYOT","NEB","NOTCH2NLC","PNPLA2","RILPL1","TRPV4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_GENERALIZED_LIPODYSTROPHY":{"collection":"C5:HPO","systematicName":"M37336","pmid":"","exactSource":"HP:0009064","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009064","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENERALIZED_LIPODYSTROPHY","geneSymbols":["BSCL2","CAV1","FBN1","KCNJ6","LMNA","MTX2","PSMG2","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DECREASED_ACHILLES_REFLEX":{"collection":"C5:HPO","systematicName":"M37337","pmid":"","exactSource":"HP:0009072","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009072","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_ACHILLES_REFLEX","geneSymbols":["ADSS1","BICD2","CRYAB","DYSF","FBXO38","GDAP1","IBA57","LDB3","MTPAP","PDK3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PROGRESSIVE_PROXIMAL_MUSCLE_WEAKNESS":{"collection":"C5:HPO","systematicName":"M37338","pmid":"","exactSource":"HP:0009073","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009073","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROGRESSIVE_PROXIMAL_MUSCLE_WEAKNESS","geneSymbols":["ABHD5","ANO5","COL12A1","COL6A1","COL6A2","COL6A3","CRYAB","DYSF","GIPC1","LDB3","LRP12","MLIP","MT-TE","MT-TL1","MT-TL2","MT-TN","MT-TS1","MYOT","NEB","NOTCH2NLC","PLEC","PNPLA2","PYGM","RILPL1","TK2","TRAPPC11","VCP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_WEAKNESS_OF_LONG_FINGER_EXTENSOR_MUSCLES":{"collection":"C5:HPO","systematicName":"M37339","pmid":"","exactSource":"HP:0009077","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009077","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WEAKNESS_OF_LONG_FINGER_EXTENSOR_MUSCLES","geneSymbols":["AGRN","AK9","CHRNA1","CHRNB1","CHRND","CHRNE","COL13A1","DOK7","GNE","HINT1","LDB3","LRP4","MUSK","MYH7","NEB","RAPSN","SCN4A","SQSTM1","TIA1","TTN"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ALVEOLAR_RIDGE_OVERGROWTH":{"collection":"C5:HPO","systematicName":"M37340","pmid":"","exactSource":"HP:0009085","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009085","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ALVEOLAR_RIDGE_OVERGROWTH","geneSymbols":["BRF1","CD96","DHCR24","DPH5","FTO","NTRK1","OFD1","PIGA","RBM10","SH3BP2","SNRPN","TBX15","WDR4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SPEECH_ARTICULATION_DIFFICULTIES":{"collection":"C5:HPO","systematicName":"M37341","pmid":"","exactSource":"HP:0009088","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009088","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPEECH_ARTICULATION_DIFFICULTIES","geneSymbols":["ALDH4A1","ARHGAP29","ARHGEF38","BMP4","CDH1","COBLL1","DLG1","DLX4","FOXP1","FRRS1L","GABRG2","GALT","GNAI3","GRHL3","GRIN2A","HTT","IRF6","MAGEL2","MAPT","MSX1","NDN","NECTIN1","NF1","OCA2","PDGFRA","PLCB4","RIC1","SH2B1","SLC2A3","SNRPN","SRPX2","STAG2","TP63","UBB"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CHRONIC_ORAL_CANDIDIASIS":{"collection":"C5:HPO","systematicName":"M37342","pmid":"","exactSource":"HP:0009098","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009098","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHRONIC_ORAL_CANDIDIASIS","geneSymbols":["AIRE","AP3B1","CARD9","CD247","CD3D","CD3E","CD3G","CD40LG","CORO1A","DCLRE1C","DOCK2","IKBKB","IL17RA","IL2RA","IL2RG","JAK3","KNSTRN","LCK","MVK","PIK3CD","RORC","STAT1","TFRC","TLR8","TRAC","TRAF3IP2","WDR1","ZAP70","ZNF341"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MEDIAN_CLEFT_PALATE":{"collection":"C5:HPO","systematicName":"M37343","pmid":"","exactSource":"HP:0009099","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009099","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MEDIAN_CLEFT_PALATE","geneSymbols":["ALX3","ATP6V1E1","CILK1","DVL1","DVL3","EPG5","FAM20C","FOXA2","FZD2","GLI2","HESX1","LBR","LHX4","NUAK2","OTX2","PITX1","POU1F1","PROP1","PTCH1","SIX3","SLC2A10","STAG2","TGIF1","TWIST1","WNT5A","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ANTERIOR_OPEN_BITE_MALOCCLUSION":{"collection":"C5:HPO","systematicName":"M37344","pmid":"","exactSource":"HP:0009102","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009102","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANTERIOR_OPEN_BITE_MALOCCLUSION","geneSymbols":["AMELX","ATP6V1B2","BMP2","DSPP","ENAM","FAM83H","GNAI3","GPR68","ITGB6","KCNH1","KCNMA1","KCNN3","KLK4","MMP20","RELT"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APLASIA_HYPOPLASIA_INVOLVING_THE_PELVIS":{"collection":"C5:HPO","systematicName":"M37345","pmid":"","exactSource":"HP:0009103","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009103","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_INVOLVING_THE_PELVIS","geneSymbols":["ABCC9","AIFM1","B3GALT6","BMPR1B","CANT1","CCDC8","CCN6","CEP120","CFAP410","CHD4","CHST3","COL11A2","COL2A1","COMP","CPLX1","CTBP1","CTC1","CUL7","DDRGK1","DLK1","ERCC6","ERCC8","EXOC6B","FGFR2","FGFR3","FN1","HSPG2","IDUA","IFNGR1","IFT140","IHH","INPPL1","INTU","KAT6B","LBR","LETM1","MATN3","MBTPS1","MEG3","MMP9","MTX2","NANS","NELFA","NSD2","NSDHL","OBSL1","PEX5","PIGG","PIK3C2A","POC1A","POP1","PORCN","PRG4","RAD21","RSPO2","RSPRY1","RTL1","RUNX2","SETBP1","SHOX","SLC10A7","SLC26A2","SLC39A13","SMARCAL1","TBX15","TMEM67","TONSL","TRAF3IP1","TRAPPC2","TRPV4","WNT3","WNT7A","XYLT1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APLASIA_HYPOPLASIA_OF_THE_PUBIC_BONE":{"collection":"C5:HPO","systematicName":"M37346","pmid":"","exactSource":"HP:0009104","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009104","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_PUBIC_BONE","geneSymbols":["ABCC9","CCDC8","COL11A2","COL2A1","CPLX1","CTBP1","CUL7","FGFR2","HSPG2","INPPL1","INTU","KAT6B","LETM1","MATN3","NELFA","NSD2","OBSL1","PIGG","SETBP1","TBX15","WNT7A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_OSSIFICATION_OF_THE_PUBIC_BONE":{"collection":"C5:HPO","systematicName":"M37347","pmid":"","exactSource":"HP:0009105","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009105","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_OSSIFICATION_OF_THE_PUBIC_BONE","geneSymbols":["CBFB","COL2A1","FGFR2","FIG4","GJB2","GJB6","GSC","NKX3-2","RUNX2","SIK3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_PELVIS_BONE_OSSIFICATION":{"collection":"C5:HPO","systematicName":"M37348","pmid":"","exactSource":"HP:0009106","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009106","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PELVIS_BONE_OSSIFICATION","geneSymbols":["CBFB","COL2A1","DYNC2H1","DYNC2I1","DYNC2I2","FGFR2","FIG4","GJB2","GJB6","GSC","IFT80","LBR","LEMD3","NKX3-2","RUNX2","SIK3","WDR35"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_OSSIFICATION_INVOLVING_THE_FEMORAL_HEAD_AND_NECK":{"collection":"C5:HPO","systematicName":"M37349","pmid":"","exactSource":"HP:0009107","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009107","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_OSSIFICATION_INVOLVING_THE_FEMORAL_HEAD_AND_NECK","geneSymbols":["ARSL","B3GALT6","COL2A1","COMP","CSPP1","DUOX2","DUOXA2","DYM","FLNB","HESX1","IYD","KIAA0586","LHX3","LHX4","MATN3","POU1F1","PROP1","RNU4ATAC","SLC26A2","SLC5A5","TG","TPO","TSHB","TSHR","UFSP2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APLASIA_HYPOPLASIA_INVOLVING_THE_FEMORAL_HEAD_AND_NECK":{"collection":"C5:HPO","systematicName":"M37350","pmid":"","exactSource":"HP:0009108","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009108","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_INVOLVING_THE_FEMORAL_HEAD_AND_NECK","geneSymbols":["AIFM1","B3GALT6","BMPR1B","CANT1","CCN6","CFAP410","CHD4","CHST3","COL2A1","COMP","CTC1","DDRGK1","DLK1","EXOC6B","FGFR3","FN1","IDUA","IFNGR1","IFT140","IHH","LBR","MATN3","MBTPS1","MEG3","MMP9","MTX2","NANS","PEX5","PIK3C2A","POC1A","POP1","PRG4","RAD21","RSPRY1","RTL1","RUNX2","SHOX","SLC10A7","SLC26A2","SLC39A13","TMEM67","TONSL","TRAF3IP1","TRAPPC2","TRPV4","XYLT1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DIAPHRAGMATIC_EVENTRATION":{"collection":"C5:HPO","systematicName":"M37351","pmid":"","exactSource":"HP:0009110","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009110","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DIAPHRAGMATIC_EVENTRATION","geneSymbols":["ALDH1A2","ARID2","ASNS","CHRNG","DNAJC19","GNB2","IGHMBP2","LRP2","MEGF10","MEGF8","MTM1","MYOD1","PLOD3","REEP1","STRA6","TRIP4","WT1","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DIAPHRAGMATIC_WEAKNESS":{"collection":"C5:HPO","systematicName":"M37352","pmid":"","exactSource":"HP:0009113","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009113","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DIAPHRAGMATIC_WEAKNESS","geneSymbols":["BAG3","CHRNA1","COL12A1","COL6A1","COL6A2","COL6A3","DNAJB4","GAA","IGHMBP2","MEGF10","MORC2","PMP22","REEP1","SLC52A3","TPI1","TRPV4","TTN"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APLASIA_HYPOPLASIA_INVOLVING_THE_SKELETON":{"collection":"C5:HPO","systematicName":"M37353","pmid":"","exactSource":"HP:0009115","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009115","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_INVOLVING_THE_SKELETON","geneSymbols":["AARS1","ABCA12","ABCC9","ABCD1","ABCD4","ACAN","ACP5","ACTA1","ACTB","ACTG1","ACTG2","ACTL6B","ACVR1","ADA","ADA2","ADAMTS10","ADAMTS2","ADAMTSL2","ADAT3","ADGRG1","ADGRG6","ADNP","AEBP1","AFF3","AFF4","AGA","AGPS","AGRN","AHDC1","AIFM1","AKT1","ALDH18A1","ALDH1A2","ALG1","ALG12","ALG13","ALG14","ALG6","ALG9","ALMS1","ALOX12B","ALOXE3","ALPL","ALX1","ALX3","ALX4","AMER1","AMMECR1","ANAPC1","ANAPC7","ANK1","ANKLE2","ANKRD11","ANTXR1","ANTXR2","AP1G1","APC","ARCN1","ARHGAP31","ARID1A","ARID1B","ARID2","ARL6","ARL6IP6","ARSB","ARSL","ARVCF","ARX","ASAH1","ASNS","ASPH","ASXL1","ASXL2","ASXL3","ATAD3A","ATP6AP2","ATP6V0A2","ATP6V1B2","ATP7A","ATPAF2","ATR","ATRIP","ATRX","AUTS2","B2M","B3GALT6","B3GAT3","B3GLCT","B4GALT7","B4GAT1","B9D1","B9D2","BANF1","BAZ1B","BBS1","BCAP31","BCL11A","BCL11B","BCL7B","BCOR","BCR","BDNF","BGN","BHLHA9","BICD2","BICRA","BLM","BLTP1","BMP2","BMP4","BMPER","BMPR1A","BMPR1B","BPNT2","BPTF","BRAF","BRAT1","BRCA1","BRCA2","BRD4","BRF1","BRIP1","BTRC","BUB1","BUB1B","BUB3","BUD23","C12orf57","C1R","C1S","C2CD3","CA2","CACNA1C","CACNA2D1","CAMK2A","CAMK2G","CAMTA1","CANT1","CARS1","CASK","CASZ1","CBFB","CBL","CC2D2A","CCBE1","CCDC22","CCDC28B","CCDC32","CCDC47","CCDC8","CCL2","CCN6","CCNQ","CD96","CDC42BPB","CDC45","CDC6","CDCA7","CDH11","CDK10","CDK5","CDKL5","CDKN1C","CDT1","CENPE","CENPF","CENPJ","CEP120","CEP152","CEP290","CEP55","CEP57","CERT1","CFAP410","CFL2","CHAT","CHD4","CHD5","CHD7","CHD8","CHN1","CHRNA1","CHRND","CHRNG","CHST11","CHST14","CHST3","CHSY1","CHUK","CILK1","CLCF1","CLCN3","CLCN7","CLIP2","CLPB","CLTCL1","CNOT2","CNOT3","CNTNAP1","COASY","COG1","COG4","COG7","COG8","COL10A1","COL11A1","COL11A2","COL12A1","COL13A1","COL1A1","COL1A2","COL25A1","COL2A1","COL3A1","COL5A1","COL6A1","COL6A2","COL6A3","COL9A1","COL9A2","COL9A3","COMP","COMT","COX4I1","COX7B","CPE","CPLANE1","CPLX1","CREB3L1","CREBBP","CRIPT","CRKL","CRLF1","CRTAP","CSGALNACT1","CSNK2A1","CSPP1","CTBP1","CTC1","CTDP1","CTNND2","CTSK","CTU2","CUL3","CUL4B","CUL7","CWC27","D2HGDH","DACT1","DCHS1","DCLRE1C","DDR2","DDRGK1","DDX3X","DEAF1","DHCR24","DHCR7","DHODH","DICER1","DIS3L2","DLK1","DLL4","DLX5","DLX6","DMXL2","DNA2","DNAI1","DNAJC21","DNAJC30","DNMT3A","DNMT3B","DOCK6","DOK7","DONSON","DPAGT1","DPF2","DPH1","DPH2","DPH5","DPM1","DPM2","DPYD","DPYSL5","DSE","DSTYK","DVL1","DVL3","DYM","DYNC1H1","DYNC2H1","DYNC2I1","DYNC2I2","DYNC2LI1","DYNLT2B","DYRK1A","DZIP1L","EBP","ECEL1","EDA","EDA2R","EDN1","EDNRA","EED","EFEMP2","EFNB1","EFTUD2","EIF2AK3","EIF4A3","EIF4H","EIF5A","ELN","EMC1","EMG1","EN1","EOGT","EP300","EPG5","EPS15L1","ERBB3","ERCC1","ERCC2","ERCC3","ERCC4","ERCC5","ERCC6","ERGIC1","ERMARD","ESCO2","EVC","EVC2","EXOC6B","EXT1","EXT2","EXTL3","EYA1","EZH2","FAM149B1","FAM20C","FAM50A","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FAT4","FBN1","FBN2","FBXL3","FBXL4","FBXO11","FBXO28","FBXW11","FBXW4","FDFT1","FERMT1","FGD1","FGF10","FGF16","FGF3","FGF9","FGFR1","FGFR2","FGFR3","FGFRL1","FIG4","FKBP10","FKBP6","FKRP","FKTN","FLCN","FLI1","FLII","FLNA","FLNB","FLVCR2","FMR1","FN1","FOCAD","FOXC2","FOXF1","FOXG1","FRA10AC1","FRAS1","FTSJ1","FUCA1","FUT8","FUZ","FZD2","GABBR2","GABRA3","GABRD","GAD1","GALNS","GALNT2","GATA1","GATA4","GATAD2B","GBA1","GDF11","GDF5","GEMIN4","GGCX","GHR","GJA1","GJA5","GJA8","GJB2","GJB6","GLB1","GLDN","GLE1","GLI1","GLI3","GLUL","GMNN","GNA11","GNAI3","GNAO1","GNAS","GNAS-AS1","GNB2","GNPAT","GNPTAB","GNS","GOLGA2","GON7","GP1BB","GPC3","GPC4","GPC6","GPKOW","GPX4","GRB10","GRIN1","GRIP1","GRM7","GSC","GTF2E2","GTF2H5","GTF2I","GTF2IRD1","GTF2IRD2","GUSB","H3-3A","H4C3","H4C9","HAAO","HACD1","HBA1","HBA2","HCCS","HDAC4","HDAC6","HDAC8","HEATR3","HECTD4","HELLS","HEPHL1","HERC2","HES7","HESX1","HHAT","HINT1","HIRA","HMGA2","HMX1","HNRNPH2","HNRNPR","HNRNPU","HOXA13","HOXB1","HOXD13","HPGD","HRAS","HSD17B4","HSPG2","HTT","HUWE1","HYLS1","HYMAI","HYOU1","IARS2","IDH1","IDH2","IDUA","IFNGR1","IFT122","IFT140","IFT172","IFT43","IFT52","IFT57","IFT80","IFT81","IGF1","IGF1R","IGF2","IGFALS","IHH","IKBKG","IL2RG","IL6ST","IL7R","INPP5K","INPPL1","INTS1","INTU","IPO8","IQCE","IQSEC2","IRF6","IRX5","ITGA7","JAG1","JMJD1C","KAT6A","KAT6B","KATNB1","KBTBD13","KCNA1","KCNAB2","KCNH1","KCNJ2","KCNJ5","KCNJ6","KCNJ8","KCNK4","KCNK9","KCNMA1","KCNN3","KDM1A","KDM4B","KDM5C","KDM6A","KIAA0586","KIAA0753","KIDINS220","KIF14","KIF15","KIF21A","KIF22","KIF26A","KIF5C","KIF7","KIFBP","KLHL15","KLHL41","KMT2A","KMT2D","KNL1","KNSTRN","KPTN","KRAS","KYNU","LAGE3","LAMA5","LARGE1","LAS1L","LBR","LEMD2","LEMD3","LETM1","LFNG","LGI4","LHX3","LHX4","LIFR","LIG4","LIMK1","LMBR1","LMBRD2","LMNA","LMNB2","LMOD3","LMX1B","LONP1","LRP2","LRP4","LRPPRC","LRRC32","LTBP2","LTBP3","LTBP4","LUZP1","LZTFL1","LZTR1","MAB21L2","MACROH2A1","MAD1L1","MAD2L2","MADD","MAFB","MAGEL2","MAN2C1","MAP2K1","MAP3K20","MAP3K7","MAPK1","MAPK8IP3","MAPRE2","MARS1","MASP1","MATN3","MBD5","MBTPS1","MBTPS2","MCM5","MCTP2","MECOM","MECP2","MED12","MEG3","MEGF8","MEIS2","MET","METTL27","MGP","MIA3","MID1","MINPP1","MIPEP","MIR140","MIR17HG","MITF","MKRN3","MKS1","MLXIPL","MMP13","MMP2","MMP23B","MMP9","MNX1","MPLKIP","MRAS","MRPS28","MSL3","MSTO1","MSX2","MTFMT","MTHFS","MTOR","MTX2","MUSK","MYBPC1","MYCN","MYF5","MYH3","MYH7","MYH8","MYL2","MYMK","MYMX","MYO18B","MYO9A","MYOD1","MYPN","MYSM1","NAA10","NALCN","NANS","NBAS","NBN","NCAPG2","NCF1","NDE1","NDN","NDUFB11","NEB","NECTIN1","NEDD4L","NEK1","NEK9","NELFA","NEPRO","NEUROD2","NF1","NFASC","NFIX","NGLY1","NHS","NIN","NIPBL","NKX2-6","NKX3-2","NODAL","NOG","NOTCH1","NOTCH2","NOTCH3","NPAP1","NPR2","NRAS","NRCAM","NSD1","NSD2","NSDHL","NSMCE2","NSUN2","NTNG1","NUP107","NUP133","NUP85","NUP88","NXN","OBSL1","OCA2","OCLN","OCRL","OFD1","ORC1","ORC4","ORC6","OSGEP","OSTM1","OTX2","P3H1","P4HB","PAH","PAICS","PAK2","PALB2","PAM16","PAPSS2","PAX1","PAX6","PAX7","PCGF2","PCNT","PCYT1A","PDE3A","PDE4D","PDE6D","PDGFRB","PDHA1","PDPN","PEPD","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PEX7","PGAP2","PGAP3","PGM1","PHF21A","PHF6","PHGDH","PHIP","PHOX2A","PHYH","PI4KA","PIEZO1","PIEZO2","PIGA","PIGB","PIGF","PIGG","PIGL","PIGN","PIGO","PIGP","PIGQ","PIGS","PIGT","PIGV","PIGW","PIGY","PIK3C2A","PIK3CA","PIK3CD","PIK3R1","PITX1","PKDCC","PKHD1","PLA2G6","PLAA","PLAG1","PLAGL1","PLCB3","PLCB4","PLK4","PLVAP","PLXND1","PNKP","POC1A","POGZ","POLA1","POLD1","POLE","POLR1A","POLR1B","POLR1C","POLR1D","POLR3A","POMGNT1","POMT1","POMT2","POP1","POR","PORCN","POU1F1","PPIB","PPM1D","PPP1R12A","PPP1R15B","PPP2R3C","PPP3CA","PQBP1","PRDM13","PRDM16","PRG4","PRIM1","PRKACA","PRKACB","PRKAR1A","PRKCZ","PRKG2","PRMT7","PROP1","PRORP","PRRX1","PRUNE1","PSAT1","PSMB8","PSMC1","PSMD12","PSPH","PTCH1","PTDSS1","PTEN","PTH1R","PTHLH","PTPN11","PUF60","PUM1","PURA","PUS1","PUS7","PWAR1","PWRN1","PYROXD1","RAB18","RAB23","RAB33B","RAB3GAP1","RAB3GAP2","RAC1","RAC3","RAD21","RAD51","RAD51C","RAF1","RAG1","RAG2","RAI1","RAPSN","RARB","RASA2","RB1","RBBP8","RBM10","RBM8A","RBPJ","RDH11","RECQL4","RELN","RERE","REV3L","RFC2","RFT1","RFWD3","RHOBTB2","RIN2","RINT1","RIPK4","RIT1","RLIM","RMRP","RNF113A","RNF2","RNU12","RNU4ATAC","ROBO1","ROR2","RPGRIP1","RPGRIP1L","RPL10","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS6KA3","RPS7","RRAS","RRAS2","RREB1","RSPO2","RSPRY1","RTL1","RTTN","RUNX2","RYR3","SALL1","SALL4","SATB1","SATB2","SC5D","SCARF2","SCN1B","SCN2A","SCN4A","SCUBE3","SCYL2","SEC24C","SEC24D","SEC31A","SELENON","SEM1","SEMA5A","SERPINH1","SETBP1","SETD2","SETD5","SF3B2","SF3B4","SFRP4","SH2B1","SH3PXD2B","SHANK3","SHH","SHOX","SIK1","SIK3","SIL1","SIM1","SIN3A","SIX1","SIX2","SIX6","SKI","SLC10A7","SLC18A3","SLC25A1","SLC25A19","SLC25A22","SLC25A24","SLC26A2","SLC29A3","SLC2A10","SLC31A1","SLC32A1","SLC35A2","SLC35A3","SLC35B2","SLC35C1","SLC35D1","SLC37A4","SLC39A13","SLC39A8","SLC5A7","SLC6A17","SLCO2A1","SLX4","SMAD4","SMARCA2","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SMC1A","SMC3","SMC5","SMCHD1","SMG8","SMO","SMOC1","SNAP25","SNIP1","SNORD115-1","SNORD116-1","SNRPB","SNRPN","SON","SOS1","SOS2","SOX11","SOX2","SOX4","SOX6","SOX9","SP7","SPART","SPATA5L1","SPECC1L","SPEG","SPEN","SPOP","SPRED1","SPRED2","SPRTN","SRCAP","SRPX2","SRY","SSR4","STAC3","STAG1","STAG2","STAMBP","STRA6","STX16","STX1A","STXBP1","SUCLG1","SUMF1","SUPT16H","SUZ12","SVBP","SYT2","TAB2","TAF1","TAPT1","TARS1","TASP1","TBC1D20","TBC1D24","TBCD","TBCE","TBCK","TBL1XR1","TBL2","TBX1","TBX15","TBX22","TBX3","TBX4","TBX5","TBX6","TBXT","TCF4","TCIRG1","TCOF1","TCTN1","TCTN2","TCTN3","TELO2","TENT5A","TFAP2A","TFAP2B","TGDS","TGFB1","TGFBR1","TGFBR2","THOC6","TMCO1","TMEM107","TMEM216","TMEM231","TMEM237","TMEM270","TMEM53","TMEM67","TMEM70","TNFRSF11A","TNFRSF11B","TNNI2","TNNT3","TNRC6B","TOE1","TONSL","TOPORS","TOR1A","TP53RK","TP63","TPM2","TPM3","TPR","TPRKB","TRAF3IP1","TRAIP","TRAPPC2","TRIM37","TRIM8","TRIO","TRIP11","TRIP13","TRIP4","TRMT10A","TRPM3","TRPS1","TRPV4","TRPV6","TRRAP","TSEN54","TSR2","TTC21B","TTN","TUBA1A","TUBB","TUBB2B","TUBB3","TWIST1","TWIST2","TXNDC15","TXNL4A","UBA1","UBE2A","UBE2T","UBE3B","UBE4B","UBR7","UFD1","UNC80","UPF3B","USB1","USP7","USP9X","VAC14","VAMP1","VANGL1","VANGL2","VARS1","VPS13B","VPS33B","VPS35L","VPS37D","VPS53","WAC","WASF1","WASHC5","WDR11","WDR19","WDR26","WDR35","WDR4","WDR62","WDR73","WDR81","WIPI2","WLS","WNT10B","WNT3","WNT5A","WNT7A","WRN","WT1","XRCC2","XRCC4","XYLT1","YARS1","YARS2","YRDC","YY1","YY1AP1","ZBTB18","ZBTB20","ZBTB24","ZC4H2","ZDHHC9","ZIC3","ZMIZ1","ZMPSTE24","ZMYM2","ZNF292","ZNF335","ZNF341","ZNF407","ZNF668","ZNF699","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APLASIA_HYPOPLASIA_INVOLVING_THE_SINUSES":{"collection":"C5:HPO","systematicName":"M37354","pmid":"","exactSource":"HP:0009120","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009120","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_INVOLVING_THE_SINUSES","geneSymbols":["AGA","ALX1","ALX3","AMER1","ATRX","COL11A1","CTSK","DNAI1","FLNA","FUCA1","NOTCH2","RUNX2","SFRP4","SIX2","SMCHD1","TRIM37"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APLASIA_HYPOPLASIA_AFFECTING_BONES_OF_THE_AXIAL_SKELETON":{"collection":"C5:HPO","systematicName":"M37355","pmid":"","exactSource":"HP:0009122","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009122","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_AFFECTING_BONES_OF_THE_AXIAL_SKELETON","geneSymbols":["AARS1","ABCD1","ABCD4","ACTA1","ACTB","ACTG1","ACTG2","ACVR1","ADA2","ADAMTS2","ADAMTSL2","ADAT3","ADGRG1","ADGRG6","AEBP1","AFF3","AFF4","AGA","AGRN","AHDC1","AIFM1","AKT1","ALDH1A2","ALG1","ALG12","ALG13","ALG14","ALG9","ALPL","ALX1","ALX3","ALX4","AMER1","AMMECR1","ANAPC7","ANK1","ANKLE2","ANKRD11","ANTXR1","APC","ARCN1","ARID1B","ARID2","ARL6IP6","ARSB","ARSL","ARVCF","ARX","ASNS","ASXL1","ASXL3","ATAD3A","ATP6AP2","ATP6V0A2","ATP6V1B2","ATP7A","ATPAF2","ATR","ATRIP","ATRX","AUTS2","B3GALT6","B3GAT3","B3GLCT","B4GALT7","B4GAT1","B9D1","B9D2","BANF1","BAZ1B","BCAP31","BCL11A","BCL11B","BCL7B","BCOR","BDNF","BGN","BICD2","BICRA","BLM","BLTP1","BMP2","BMP4","BMPER","BMPR1A","BPNT2","BPTF","BRAF","BRAT1","BRCA1","BRCA2","BRD4","BRF1","BRIP1","BUB1","BUB1B","BUB3","BUD23","C12orf57","C1R","C1S","C2CD3","CA2","CACNA1C","CAMTA1","CANT1","CARS1","CASK","CASZ1","CBFB","CBL","CC2D2A","CCDC22","CCDC32","CCL2","CD96","CDC42BPB","CDC45","CDC6","CDCA7","CDK5","CDKN1C","CDT1","CENPE","CENPF","CENPJ","CEP120","CEP152","CEP290","CEP55","CEP57","CFL2","CHAT","CHD4","CHD5","CHD7","CHD8","CHN1","CHRNA1","CHRND","CHRNG","CHST14","CHST3","CHSY1","CHUK","CILK1","CLCF1","CLCN3","CLIP2","CLPB","CLTCL1","CNOT2","CNTNAP1","COASY","COG1","COG4","COG7","COG8","COL11A1","COL11A2","COL12A1","COL13A1","COL1A1","COL1A2","COL25A1","COL2A1","COL3A1","COL5A1","COL6A1","COL6A2","COL6A3","COL9A1","COL9A2","COL9A3","COMP","COMT","COX7B","CPE","CPLANE1","CPLX1","CREB3L1","CREBBP","CRIPT","CRLF1","CRTAP","CSGALNACT1","CSNK2A1","CSPP1","CTBP1","CTDP1","CTNND2","CTSK","CTU2","CUL7","CWC27","D2HGDH","DCHS1","DDR2","DDRGK1","DDX3X","DEAF1","DHCR24","DHCR7","DHODH","DICER1","DIS3L2","DLK1","DNA2","DNAI1","DNAJC21","DNAJC30","DNMT3A","DNMT3B","DOCK6","DOK7","DONSON","DPAGT1","DPH1","DPH2","DPH5","DPM1","DPM2","DPYD","DPYSL5","DSE","DSTYK","DVL1","DVL3","DYM","DYNC2H1","DYNC2I1","DYNC2I2","DYNC2LI1","DYNLT2B","DYRK1A","DZIP1L","EBP","ECEL1","EDN1","EDNRA","EED","EFEMP2","EFNB1","EFTUD2","EIF2AK3","EIF4A3","EIF4H","EIF5A","ELN","EMC1","EMG1","EP300","EPG5","ERBB3","ERCC1","ERCC2","ERCC3","ERCC4","ERCC5","ERCC6","ERGIC1","ERMARD","ESCO2","EVC","EVC2","EXT1","EXT2","EXTL3","EYA1","EZH2","FAM149B1","FAM20C","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FAT4","FBN1","FBN2","FBXL3","FBXO28","FBXW11","FDFT1","FGD1","FGF10","FGF3","FGFR1","FGFR2","FGFR3","FGFRL1","FIG4","FKBP6","FKRP","FKTN","FLCN","FLI1","FLII","FLNA","FLNB","FLVCR2","FN1","FOCAD","FOXC2","FOXF1","FOXG1","FRA10AC1","FRAS1","FUCA1","FUZ","FZD2","GABRA3","GABRD","GAD1","GALNS","GATA1","GATA4","GATAD2B","GBA1","GDF11","GEMIN4","GHR","GJA1","GJA5","GJA8","GLB1","GLDN","GLE1","GLI3","GMNN","GNA11","GNAI3","GNB2","GNPAT","GNPTAB","GNS","GOLGA2","GON7","GP1BB","GPC3","GPC4","GPC6","GPKOW","GPX4","GRB10","GRIP1","GSC","GTF2E2","GTF2H5","GTF2I","GTF2IRD1","GTF2IRD2","GUSB","H3-3A","H4C9","HAAO","HACD1","HBA1","HBA2","HCCS","HDAC6","HDAC8","HEATR3","HECTD4","HELLS","HES7","HIRA","HMGA2","HMX1","HNRNPH2","HNRNPR","HNRNPU","HOXB1","HOXD13","HRAS","HSD17B4","HSPG2","HUWE1","HYLS1","HYMAI","HYOU1","IARS2","IDUA","IFT122","IFT140","IFT172","IFT43","IFT80","IFT81","IGF1","IGF1R","IGF2","IGFALS","IHH","INPPL1","INTS1","INTU","IPO8","IQSEC2","IRF6","IRX5","ITGA7","JMJD1C","KAT6A","KAT6B","KATNB1","KBTBD13","KCNAB2","KCNH1","KCNJ2","KCNJ5","KCNJ6","KCNK4","KCNK9","KCNMA1","KCNN3","KDM4B","KDM5C","KDM6A","KIAA0586","KIAA0753","KIDINS220","KIF14","KIF21A","KIF26A","KIF7","KLHL41","KMT2A","KMT2D","KNL1","KPTN","KRAS","KYNU","LAGE3","LAMA5","LARGE1","LAS1L","LBR","LEMD2","LEMD3","LETM1","LFNG","LGI4","LIFR","LIG4","LIMK1","LMBRD2","LMNA","LMOD3","LMX1B","LONP1","LRP2","LRP4","LRPPRC","LRRC32","LTBP4","LUZP1","LZTR1","MAD1L1","MAD2L2","MADD","MAFB","MAN2C1","MAP2K1","MAP3K20","MAP3K7","MAPK1","MAPK8IP3","MAPRE2","MARS1","MBD5","MCM5","MCTP2","MECP2","MED12","MEG3","METTL27","MID1","MINPP1","MIPEP","MITF","MKS1","MLXIPL","MMP2","MMP23B","MNX1","MPLKIP","MRAS","MSTO1","MSX2","MTX2","MUSK","MYBPC1","MYCN","MYF5","MYH3","MYH7","MYH8","MYL2","MYMK","MYMX","MYO18B","MYO9A","MYOD1","MYPN","NAA10","NALCN","NBN","NCAPG2","NCF1","NDE1","NDUFB11","NEB","NECTIN1","NEDD4L","NEK1","NEK9","NELFA","NF1","NFASC","NFIX","NIPBL","NKX3-2","NODAL","NOG","NOTCH2","NOTCH3","NRAS","NRCAM","NSD1","NSD2","NSDHL","NSMCE2","NSUN2","NUP107","NUP133","NUP85","NUP88","NXN","OCLN","OCRL","OFD1","ORC1","ORC4","ORC6","OSGEP","OSTM1","OTX2","P4HB","PAH","PAICS","PAK2","PALB2","PAM16","PAX1","PAX6","PAX7","PCGF2","PCNT","PDE4D","PDE6D","PDGFRB","PDPN","PEPD","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PEX7","PGAP2","PGAP3","PGM1","PHF21A","PHGDH","PHIP","PI4KA","PIEZO1","PIEZO2","PIGA","PIGB","PIGF","PIGG","PIGL","PIGN","PIGO","PIGQ","PIGT","PIGV","PIGW","PIGY","PIK3CA","PIK3R1","PKDCC","PKHD1","PLA2G6","PLAA","PLAG1","PLAGL1","PLCB3","PLCB4","PLK4","PLVAP","PLXND1","POC1A","POGZ","POLD1","POLE","POLR1A","POLR1B","POLR1C","POLR1D","POLR3A","POMGNT1","POMT1","POMT2","POR","PORCN","PPP1R12A","PPP1R15B","PPP3CA","PQBP1","PRDM13","PRDM16","PRIM1","PRKAR1A","PRKCZ","PRORP","PRRX1","PRUNE1","PSAT1","PSMB8","PSMC1","PSMD12","PSPH","PTCH1","PTDSS1","PTEN","PTH1R","PTPN11","PUF60","PURA","PUS1","PUS7","PYROXD1","RAB18","RAB23","RAB33B","RAB3GAP1","RAB3GAP2","RAC3","RAD21","RAD51","RAD51C","RAF1","RAI1","RAPSN","RARB","RASA2","RB1","RBBP8","RBM10","RBM8A","RDH11","RECQL4","RELN","RERE","REV3L","RFC2","RFT1","RFWD3","RHOBTB2","RIN2","RINT1","RIPK4","RIT1","RLIM","RMRP","RNF113A","RNU12","RNU4ATAC","ROBO1","ROR2","RPGRIP1","RPGRIP1L","RPL10","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS7","RRAS","RRAS2","RREB1","RSPO2","RTL1","RTTN","RUNX2","RYR3","SALL4","SATB2","SC5D","SCARF2","SCN4A","SCUBE3","SCYL2","SEC24C","SEC24D","SEC31A","SELENON","SEMA5A","SERPINH1","SETBP1","SETD2","SETD5","SF3B2","SF3B4","SFRP4","SH2B1","SH3PXD2B","SHANK3","SHOX","SIM1","SIN3A","SIX1","SIX2","SIX6","SKI","SLC10A7","SLC18A3","SLC25A1","SLC25A19","SLC25A24","SLC26A2","SLC29A3","SLC2A10","SLC35A3","SLC35B2","SLC35D1","SLC37A4","SLC5A7","SLX4","SMC1A","SMC3","SMC5","SMCHD1","SMG8","SMO","SMOC1","SNAP25","SNIP1","SNRPB","SNRPN","SOS1","SOS2","SOX2","SOX6","SOX9","SP7","SPATA5L1","SPECC1L","SPEG","SPEN","SPOP","SPRED1","SPRED2","SPRTN","SRCAP","SRPX2","SRY","SSR4","STAC3","STAG1","STAG2","STRA6","STX1A","SUMF1","SUPT16H","SUZ12","SYT2","TAB2","TAF1","TAPT1","TARS1","TASP1","TBC1D20","TBC1D24","TBCD","TBCE","TBCK","TBL2","TBX1","TBX15","TBX3","TBX4","TBX5","TBX6","TBXT","TCIRG1","TCOF1","TCTN1","TCTN2","TCTN3","TELO2","TENT5A","TFAP2A","TGDS","TGFBR1","TGFBR2","THOC6","TMCO1","TMEM107","TMEM216","TMEM231","TMEM237","TMEM270","TMEM67","TMEM70","TNFRSF11A","TNNI2","TNNT3","TNRC6B","TOE1","TOPORS","TOR1A","TP53RK","TP63","TPM2","TPM3","TPRKB","TRAIP","TRAPPC2","TRIM37","TRIO","TRIP11","TRIP13","TRIP4","TRMT10A","TRPM3","TRPS1","TRPV4","TRPV6","TRRAP","TSEN54","TSR2","TTN","TUBA1A","TUBB","TUBB3","TWIST1","TWIST2","TXNDC15","TXNL4A","UBA1","UBE2T","UBE3B","UBE4B","UFD1","UNC80","UPF3B","USB1","VAC14","VAMP1","VANGL1","VANGL2","VARS1","VPS13B","VPS33B","VPS35L","VPS37D","VPS53","WASHC5","WDR11","WDR26","WDR35","WDR4","WDR62","WDR73","WLS","WNT3","WNT5A","WNT7A","WT1","XRCC2","XRCC4","XYLT1","YARS1","YARS2","YRDC","YY1","ZBTB18","ZBTB24","ZC4H2","ZDHHC9","ZIC3","ZMIZ1","ZMPSTE24","ZNF292","ZNF335","ZNF341","ZNF668","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MIXED_HYPO_AND_HYPERPIGMENTATION_OF_THE_SKIN":{"collection":"C5:HPO","systematicName":"M37356","pmid":"","exactSource":"HP:0009123","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009123","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MIXED_HYPO_AND_HYPERPIGMENTATION_OF_THE_SKIN","geneSymbols":["ADAR","DPP9","KRT14","KRT5","LMNA","PCNT","PIGN","POFUT1","POGLUT1","PSENEN","SASH1","SMS","UBE2A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_ADIPOSE_TISSUE_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M37357","pmid":"","exactSource":"HP:0009124","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009124","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ADIPOSE_TISSUE_MORPHOLOGY","geneSymbols":["AARS1","ABCC6","ABCC9","ACTB","ACTC1","ACTN2","ADA2","ADAMTS2","ADAMTSL2","ADAR","AGPAT2","AKT1","AKT2","ALB","ALG11","ALG12","ALG3","ALG8","ALG9","ALMS1","ALX1","ALX3","ANKRD1","AP2S1","APC","ARMC5","ATP6V0A2","ATP6V1A","ATP6V1E1","ATRX","B4GALT7","BAG3","BAG5","BANF1","BLM","BMPR1A","BRAF","BSCL2","CAP2","CARS1","CASP10","CAV1","CAVIN1","CCL2","CDC73","CDH23","CDKN1A","CDKN1B","CDKN2B","CDKN2C","CHCHD10","CIDEC","CLMP","COL1A1","COL1A2","COL3A1","COQ6","CRYAB","CSRP3","DDOST","DES","DMD","DNASE2","DOLK","DPAGT1","DSG2","DSP","EMD","ENPP1","ERCC2","ERCC3","ERCC4","ERCC6","ERCC8","FAS","FASLG","FBN1","FGFR1","FH","FHL1","FHL2","FKTN","FLCN","FLNA","FOS","FUCA1","FUZ","G6PC3","GATAD1","GNA11","GNAS","GNB2","GRM7","GTF2E2","GTF2H5","H4C5","HAND2","HAVCR2","HEPACAM","IFIH1","IGF1R","IKBKG","INPP5K","INSR","JPH2","KCNJ6","KCNK9","KCTD1","KIF11","KLLN","KRAS","LAMA4","LCK","LDB3","LEMD2","LEMD3","LIPE","LMF1","LMNA","LMNB2","LMOD2","LSM11","LZTR1","MAD1L1","MC4R","MEFV","MEN1","MFN2","MPLKIP","MSTO1","MT-ND5","MT-RNR1","MT-TF","MT-TH","MT-TK","MT-TL1","MT-TP","MT-TQ","MT-TS1","MT-TS2","MTX2","MYBPC3","MYH6","MYH7","MYPN","MYSM1","NAA10","NEXN","NF2","NR3C1","OTULIN","PCSK1","PDE11A","PDGFRB","PHGDH","PIK3CA","PIK3R1","PLIN1","PLN","PMM2","POLD1","POLR3A","POMC","POMP","PORCN","PPARG","PPCS","PPP1R15B","PRDM16","PRIM1","PRKACA","PRKAR1A","PRKCD","PSEN1","PSEN2","PSMB4","PSMB8","PSMB9","PSMG2","PTEN","PTF1A","RAF1","RASGRP1","RBM20","RBM28","RNASEH2A","RNASEH2B","RNASEH2C","RNF113A","RNU7-1","RPL10","RPL3L","SAMHD1","SCN5A","SDHA","SDHB","SDHC","SDHD","SEC23B","SGCD","SKI","SLC25A24","SLC29A3","SLC2A2","SMARCB1","SOX18","SPRED1","SPRTN","SYNE1","SYNE2","TAF1","TAF1A","TAFAZZIN","TARS1","TBL1XR1","TBXT","TCAP","TGFB1","TGFB3","TMEM43","TMPO","TNNC1","TNNI3","TNNT2","TOP3A","TP53","TPM1","TREM2","TREX1","TRMT10A","TTN","TWIST2","TXNRD2","TYROBP","USF3","USP48","USP8","VANGL1","VANGL2","VCL","VDR","VEZF1","VPS4A","WRN","ZMPSTE24","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LIPODYSTROPHY":{"collection":"C5:HPO","systematicName":"M37358","pmid":"","exactSource":"HP:0009125","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009125","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIPODYSTROPHY","geneSymbols":["ABCC9","ACTB","ACTC1","ACTN2","ADAR","AGPAT2","AKT2","ALB","ALG3","ALG9","ANKRD1","ATP6V0A2","ATP6V1A","ATP6V1E1","B4GALT7","BAG3","BAG5","BANF1","BSCL2","CAP2","CAV1","CAVIN1","CIDEC","CLMP","COL3A1","CRYAB","CSRP3","DDOST","DES","DMD","DNASE2","DOLK","DPAGT1","DSG2","DSP","EMD","FBN1","FGFR1","FHL1","FHL2","FKTN","FLNA","FOS","FUCA1","GATAD1","GRM7","HAND2","IFIH1","IGF1R","JPH2","KCNJ6","KRAS","LAMA4","LDB3","LIPE","LMF1","LMNA","LMNB2","LMOD2","LSM11","MTX2","MYBPC3","MYH6","MYH7","MYPN","NEXN","OTULIN","PDGFRB","PIK3CA","PIK3R1","PLIN1","PLN","PMM2","POLD1","POLR3A","POMP","PPARG","PPCS","PRDM16","PSEN1","PSEN2","PSMB4","PSMB8","PSMB9","PSMG2","RAF1","RBM20","RBM28","RNASEH2A","RNASEH2B","RNASEH2C","RNU7-1","RPL3L","SAMHD1","SCN5A","SDHA","SGCD","SLC25A24","SLC29A3","SPRTN","SYNE1","SYNE2","TAF1A","TAFAZZIN","TCAP","TMEM43","TMPO","TNNC1","TNNI3","TNNT2","TPM1","TREX1","TTN","TWIST2","TXNRD2","VCL","VEZF1","VPS4A","WRN","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INCREASED_ADIPOSE_TISSUE":{"collection":"C5:HPO","systematicName":"M37359","pmid":"","exactSource":"HP:0009126","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009126","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_ADIPOSE_TISSUE","geneSymbols":["AKT2","CHCHD10","INPP5K","LIPE","LMNA","MC4R","MT-TK","PCSK1","POLR3A","POMC"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_MUSCULATURE_OF_THE_LIMBS":{"collection":"C5:HPO","systematicName":"M37360","pmid":"","exactSource":"HP:0009127","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009127","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_MUSCULATURE_OF_THE_LIMBS","geneSymbols":["AAAS","AARS1","ABCD1","ABHD5","ACOX1","ACTA1","ACTB","ACTL6B","ACTN2","ADA2","ADAR","ADCY5","ADGRG1","ADSS1","AFG3L2","AGRN","AIFM1","AK9","AKT1","ALAD","ALDH18A1","ALG11","ALG14","ALG2","ALS2","ALX1","ALX3","AMPD1","AMPD3","ANO10","ANO5","ANXA11","AP3B2","AP4M1","AP5Z1","AR","ARSI","ARV1","ASAH1","ASH1L","ASNS","ASXL1","ASXL2","ATL1","ATL3","ATP13A2","ATP1A1","ATP1A2","ATP1A3","ATP5MC3","ATP6V0A2","ATP6V1A","ATP7B","ATRX","B4GALNT1","BAG3","BAP1","BICD2","BIN1","BRAF","BRAT1","BRF1","BSCL2","BTD","BVES","C19orf12","CACNA1A","CACNA1B","CACNA1G","CACNA1S","CACNA2D1","CADM3","CAMSAP1","CAPN1","CAPN3","CAV1","CAV3","CCDC8","CCND1","CCNF","CD59","CDC42BPB","CDK19","CELF2","CEP126","CFL2","CHAT","CHCHD10","CHRNA1","CHRNB1","CHRND","CHRNE","CIDEC","CLCN1","CLDN11","CLP1","CLTC","CNKSR2","COA7","COG4","COL12A1","COL13A1","COL25A1","COL6A1","COL6A2","COL6A3","COLQ","COMP","COX20","COX6A1","CPLANE1","CPOX","CPT1C","CRPPA","CRYAB","CSGALNACT1","CUL7","CYFIP2","CYP27A1","CYP7B1","DAG1","DALRD3","DARS2","DCTN1","DDC","DDHD1","DDHD2","DES","DGUOK","DHDDS","DHPS","DHTKD1","DHX16","DKK1","DMD","DMXL2","DNA2","DNAJB2","DNAJB6","DNAJC12","DNAJC6","DNM1","DNM1L","DNM2","DNMT3B","DOCK6","DOK7","DPAGT1","DPH5","DPM3","DSTYK","DYM","DYNC1H1","DYSF","EBP","EEF1A2","EGR2","EIF2B2","EIF2B3","EIF4A3","ELOVL4","EMC1","EMD","EMILIN1","EPHB4","ERCC1","ERCC6","ERCC8","ERGIC1","ERLIN2","EXTL3","EYA1","FA2H","FAR1","FARS2","FBLN5","FBN1","FBN2","FBXO28","FBXO38","FBXW11","FDX2","FGD4","FGF12","FGF13","FGFR2","FHL1","FKRP","FKTN","FLI1","FLNA","FLNB","FLNC","FRG1","FRMD4A","FXN","FZR1","GAA","GABBR2","GABRA2","GABRA3","GABRA5","GABRB2","GABRG2","GALC","GAN","GARS1","GATA1","GBA2","GBF1","GCH1","GDAP1","GDAP2","GDF11","GFAP","GFM2","GFPT1","GIPC1","GJB1","GMPPA","GMPPB","GNB1","GNB2","GNB4","GNE","GPHN","GRIK2","GRIN2D","GRM7","GYG1","H4C5","HACD1","HACE1","HADHA","HADHB","HARS1","HCN1","HEATR3","HEXB","HINT1","HK1","HMBS","HNRNPA1","HNRNPDL","HOXA13","HSPB1","HSPB3","HSPB8","HSPD1","HSPG2","HYCC1","IBA57","IDUA","IFIH1","IGHMBP2","INF2","ITGA7","ITPR3","JAG1","JAG2","KANSL1","KARS1","KAT6A","KATNB1","KBTBD13","KCNA1","KCNA2","KCNB1","KCNJ10","KCNJ18","KCNJ2","KDM1A","KDM5C","KIDINS220","KIF1A","KIF1B","KIF5A","KIFBP","KLHL41","KLHL9","KPNA3","KY","L1CAM","LAMA2","LAMB2","LAMP2","LARGE1","LBR","LDB3","LGI4","LIG3","LIMS2","LIPE","LMNA","LMOD3","LMX1B","LPIN1","LRIF1","LRP12","LRP4","LRSAM1","LTBP4","LYST","MAP3K20","MAP3K7","MAPT","MARS1","MATR3","MB","MCM3AP","MED11","MEGF10","MFN2","MICU1","MINPP1","MLIP","MME","MORC2","MPV17","MPZ","MRPS2","MT-ATP6","MT-CO1","MT-CO3","MT-TE","MTAP","MTHFR","MTMR14","MTPAP","MTRFR","MTRR","MTTP","MUSK","MYBPC1","MYF6","MYH14","MYH2","MYH7","MYL2","MYMK","MYMX","MYO9A","MYOT","MYPN","NCAPD3","NDRG1","NDUFA9","NDUFC2","NEB","NECAP1","NEFH","NEFL","NF1","NF2","NGLY1","NIPA1","NOTCH2NLC","NTRK2","NUP54","NUP62","NUS1","OBSCN","OBSL1","OPA1","ORAI1","OSTM1","PABPN1","PACS2","PARS2","PAX1","PAX3","PCCA","PCCB","PDGFB","PDK3","PDXK","PEX7","PHKA1","PHKB","PHYH","PI4KA","PIEZO2","PIGA","PIGN","PIGP","PIK3CA","PLAA","PLEC","PLIN1","PLIN4","PLOD1","PLOD3","PLP1","PLXND1","PMP2","PMP22","PNKP","PNPLA2","PNPLA6","PNPT1","PODXL","POGLUT1","POLG","POLG2","POLR3A","POMGNT1","POMGNT2","POMK","POMT1","POMT2","POPDC3","POU3F4","PPARG","PPOX","PPP3CA","PRDM13","PRNP","PRORP","PRPS1","PRR12","PRX","PSAP","PTPN11","PTS","PUS1","PYCR2","PYROXD1","RAB7A","RAD51C","RAF1","RAI1","RAPSN","RARS1","RASA1","RBM8A","REEP1","REV3L","RHOBTB2","RILPL1","RNASEH1","RNF170","RNU7-1","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS7","RRM2B","RTN2","RYR1","RYR3","SACS","SALL4","SARDH","SBF1","SBF2","SCN3A","SCN4A","SCN8A","SCO2","SCYL1","SCYL2","SDHA","SDHAF1","SDHB","SDHD","SECISBP2","SELENON","SEPSECS","SEPTIN9","SGCA","SGCB","SGCD","SGCG","SH3TC2","SIGMAR1","SLC12A6","SLC13A5","SLC16A2","SLC18A3","SLC1A2","SLC25A1","SLC25A19","SLC25A21","SLC25A4","SLC30A9","SLC31A1","SLC33A1","SLC35C1","SLC38A3","SLC39A13","SLC39A14","SLC52A2","SLC52A3","SLC5A6","SLC5A7","SLC6A3","SMARCB1","SMARCE1","SMCHD1","SMG9","SMN1","SMN2","SMO","SMPX","SNAP25","SORD","SPART","SPAST","SPATA5","SPEG","SPG11","SPG21","SPG7","SPR","SPRED2","SPTLC1","SPTLC2","SQSTM1","SRPX2","SRY","STIM1","SUFU","SVBP","SYNE1","SYNE2","SYNGAP1","SYNJ1","SYT2","SZT2","TARS2","TBCE","TBX3","TBX5","TCAP","TDP1","TERT","TFG","TGFB3","TIA1","TIMM8A","TK2","TMEM43","TNNT1","TNPO3","TNR","TPM2","TPM3","TRAF7","TRAK1","TRAPPC11","TRIM2","TRIM32","TRIO","TRIP4","TRPS1","TRPV4","TSEN15","TSEN2","TSEN34","TSEN54","TSR2","TTN","TWNK","TYMP","UBA5","UBAP1","UBTF","UFC1","UFSP2","UNC45B","USP8","VAMP1","VAPB","VCP","VHL","VMA21","VPS13A","VPS13D","VPS37A","VWA1","WARS1","WARS2","WASHC5","WDR48","WWOX","YARS1","YWHAG","ZFYVE26","ZFYVE27"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_UPPER_LIMB_AMYOTROPHY":{"collection":"C5:HPO","systematicName":"M37361","pmid":"","exactSource":"HP:0009129","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009129","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UPPER_LIMB_AMYOTROPHY","geneSymbols":["ACTA1","ADSS1","ALS2","ANO5","BSCL2","CADM3","CAV3","CEP126","CHCHD10","CHRNA1","COMP","CPLANE1","CYP7B1","DCTN1","DYSF","FBLN5","FLNC","FXN","GARS1","GBF1","GDAP1","GIPC1","GJB1","GNB4","HARS1","HINT1","HK1","HSPB1","HSPB3","IDUA","INF2","ITPR3","JAG1","KANSL1","KAT6A","KIF1A","KIF5A","KLHL9","KY","LDB3","LMNA","LRP12","MARS1","MATR3","MFN2","MORC2","MPZ","NDRG1","NEB","NEFH","NEFL","NGLY1","NOTCH2NLC","PDK3","PLOD3","PMP22","PRX","REEP1","RILPL1","RYR1","SLC12A6","SLC25A21","SLC39A13","SLC52A3","SLC5A6","SPG11","SPTLC1","SQSTM1","SVBP","TFG","TIA1","TIMM8A","TNR","TRIM2","TRPV4","VCP","WARS1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HAND_MUSCLE_ATROPHY":{"collection":"C5:HPO","systematicName":"M45431","pmid":"","exactSource":"HP:0009130","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009130","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HAND_MUSCLE_ATROPHY","geneSymbols":["ACTA1","ALS2","BSCL2","CAV3","CHCHD10","CHRNA1","COMP","DCTN1","DYSF","FLNC","FXN","GARS1","GBF1","GDAP1","HARS1","HINT1","HSPB3","IDUA","ITPR3","JAG1","KANSL1","KIF1A","KLHL9","LDB3","LMNA","MARS1","MORC2","MPZ","NEB","NEFL","NGLY1","PDK3","PLOD3","PMP22","PRX","REEP1","RYR1","SLC12A6","SLC25A21","SLC39A13","SLC52A3","SLC5A6","SPG11","SPTLC1","SQSTM1","SVBP","TFG","TIA1","TIMM8A","TRIM2","TRPV4","VCP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DUPLICATION_INVOLVING_BONES_OF_THE_FEET":{"collection":"C5:HPO","systematicName":"M37364","pmid":"","exactSource":"HP:0009136","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009136","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DUPLICATION_INVOLVING_BONES_OF_THE_FEET","geneSymbols":["ABCA12","AHI1","ARL13B","ARL3","ARL6","ARMC9","ARVCF","B9D1","B9D2","BBS1","BBS12","BBS2","BBS9","BMP4","C2CD3","CASZ1","CBY1","CC2D2A","CCDC28B","CD96","CEP104","CEP120","CEP290","CEP41","CIBAR1","COMT","CPLANE1","CPLX1","CSPP1","CTBP1","DDX59","DHCR7","DVL1","DYNC2H1","DYNC2I1","DYNC2I2","DYNC2LI1","DYNLT2B","EVC","EVC2","EXTL3","FAM149B1","FGFR2","FGFRL1","GABRD","GJA5","GJA8","GLI1","GLI3","GP1BB","HEPACAM","HIRA","HOXD13","HSPG2","HYLS1","IFT140","IFT172","IFT27","IFT74","IFT80","INPP5E","IQCE","JMJD1C","KATNIP","KCNAB2","KIAA0586","KIAA0753","KIAA0825","KIF7","LBR","LETM1","LMBR1","LUZP1","LZTFL1","MAP3K20","MEGF8","MKKS","MKS1","MMP23B","NEK1","NPHP3","NSD2","OFD1","OTUD5","PDE6D","PDPN","PIBF1","PIK3CA","PITX1","PLAA","PORCN","PPP2R3C","PRDM16","PRKACA","PRKACB","PRKCZ","PTEN","RAB23","RERE","ROR2","RPGRIP1","RPGRIP1L","RREB1","SC5D","SCNM1","SEC24C","SETD5","SHH","SKI","SMO","SMOC1","SPEN","SUFU","TBX1","TCTN1","TCTN2","TCTN3","TFAP2B","TMEM107","TMEM138","TMEM216","TMEM218","TMEM231","TMEM237","TMEM67","TOGARAM1","TOPORS","TTC21B","TXNDC15","UBE4B","UFD1","WDR19","WNT5A","ZNF141","ZNF423","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_OSTEOLYSIS_INVOLVING_BONES_OF_THE_LOWER_LIMBS":{"collection":"C5:HPO","systematicName":"M46145","pmid":"","exactSource":"HP:0009139","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009139","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OSTEOLYSIS_INVOLVING_BONES_OF_THE_LOWER_LIMBS","geneSymbols":["ASAH1","COL3A1","FLNA","KIF1A","LMNA","MAFB","MMP14","MMP2","NOTCH2","RETREG1","SCN9A","WNK1","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SYNOSTOSIS_INVOLVING_BONES_OF_THE_FEET":{"collection":"C5:HPO","systematicName":"M47139","pmid":"","exactSource":"HP:0009140","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009140","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SYNOSTOSIS_INVOLVING_BONES_OF_THE_FEET","geneSymbols":["ATP7A","BHLHA9","BMPR1B","CHSY1","FBLN1","FGF9","FGFR1","FGFR2","FGFR3","FLNA","FLNB","GDF5","GDF6","GLI3","HOXD13","LMBR1","MAP3K20","MAP3K7","MKKS","MYH3","NALCN","NOG","OFD1","POR","RNU12","SALL1","SLC26A2","SMOC1","TBX4","TNNI2","TNNT3","TPM2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DEPLETION_OF_MITOCHONDRIAL_DNA_IN_MUSCLE_TISSUE":{"collection":"C5:HPO","systematicName":"M37366","pmid":"","exactSource":"HP:0009141","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009141","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEPLETION_OF_MITOCHONDRIAL_DNA_IN_MUSCLE_TISSUE","geneSymbols":["AGK","ATP5F1A","DGUOK","DNA2","LIG3","MGME1","POLG","POLG2","RRM2B","SLC25A10","SLC25A4","SUCLG1","TFAM","TK2","TOP3A","TWNK","TYMP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SUPERNUMERARY_BONES_OF_THE_AXIAL_SKELETON":{"collection":"C5:HPO","systematicName":"M37367","pmid":"","exactSource":"HP:0009144","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009144","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUPERNUMERARY_BONES_OF_THE_AXIAL_SKELETON","geneSymbols":["ACTB","AFF3","ANK1","ANKRD11","DHODH","GATA6","GDF11","GPC3","GPC4","IFT57","IKBKG","MAF","MTX2","NIPBL","PAX3","PDGFRB","PTCH1","PUF60","RBM8A","RPS26","RUNX2","SF3B2","SIX6","SKI","SON","SOX2","TBX6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CEREBRAL_ARTERY_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M37368","pmid":"","exactSource":"HP:0009145","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009145","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CEREBRAL_ARTERY_MORPHOLOGY","geneSymbols":["ABCG5","ABCG8","ACTA2","ADAR","ALDH18A1","ALG5","ALG9","ANGPTL6","APOB","APP","BGN","BICC1","BRCC3","COL1A1","COL3A1","COL4A1","COL5A1","COL5A2","DNAJB11","ELN","ENG","FARSB","FBN1","FOXE3","GAA","GANAB","GGCX","GUCY1A1","HES7","HEY2","HTRA1","IFIH1","IFT140","IPO8","LDLR","LDLRAP1","LOX","LSM11","MAT2A","MFAP5","MYH11","MYLK","NDE1","NF1","NFIA","PCNT","PCSK9","PDE11A","PDGFB","PDGFRB","PKD1","PKD2","PLOD3","PRKAR1A","PRKCSH","PRKG1","RNASEH2A","RNASEH2B","RNASEH2C","RNF213","RNU7-1","SAMHD1","SLC20A2","SMAD2","SMAD3","SMAD4","SMARCAL1","SPTBN1","STAT1","TGFB2","TGFB3","TGFBR1","TGFBR2","TGFBR3","THSD1","THSD4","TOM1","TONSL","TREX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_PROXIMAL_PHALANX_OF_THE_5TH_FINGER":{"collection":"C5:HPO","systematicName":"M46146","pmid":"","exactSource":"HP:0009150","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009150","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_PROXIMAL_PHALANX_OF_THE_5TH_FINGER","geneSymbols":["BHLHA9","GDF5","KIF15","NOG","ROR2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CALCIFICATION_OF_THE_CARPAL_BONES":{"collection":"C5:HPO","systematicName":"M41371","pmid":"","exactSource":"HP:0009164","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009164","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CALCIFICATION_OF_THE_CARPAL_BONES","geneSymbols":["ABCC6","DDR2","EBP","ENPP1","LEMD3","SLC34A2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_JOINT_CONTRACTURE_OF_THE_5TH_FINGER":{"collection":"C5:HPO","systematicName":"M37369","pmid":"","exactSource":"HP:0009183","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009183","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_JOINT_CONTRACTURE_OF_THE_5TH_FINGER","geneSymbols":["ARPC4","AUTS2","CTCF","FBXW11","GJA1","HOXD13","JARID2","KDM5B","KMT2B","LIFR","PIGL","PITX1","PYROXD1","SLC29A3","TMEM218","ZDHHC9"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CONTRACTURE_OF_THE_PROXIMAL_INTERPHALANGEAL_JOINT_OF_THE_5TH_FINGER":{"collection":"C5:HPO","systematicName":"M46147","pmid":"","exactSource":"HP:0009185","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009185","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONTRACTURE_OF_THE_PROXIMAL_INTERPHALANGEAL_JOINT_OF_THE_5TH_FINGER","geneSymbols":["ARPC4","HOXD13","KDM5B","LIFR","PIGL"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PSEUDOEPIPHYSES_OF_THE_METACARPALS":{"collection":"C5:HPO","systematicName":"M37370","pmid":"","exactSource":"HP:0009193","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009193","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PSEUDOEPIPHYSES_OF_THE_METACARPALS","geneSymbols":["COG4","CPLX1","CTBP1","FGFRL1","LETM1","NPR3","NSD2","PCNT","RPS6KA3","SALL1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APLASIA_HYPOPLASIA_OF_THE_4TH_FINGER":{"collection":"C5:HPO","systematicName":"M46148","pmid":"","exactSource":"HP:0009272","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009272","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_4TH_FINGER","geneSymbols":["COL2A1","GDF5","MECOM","NOG","TBX3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DEVIATION_OF_THE_4TH_FINGER":{"collection":"C5:HPO","systematicName":"M41372","pmid":"","exactSource":"HP:0009273","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009273","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEVIATION_OF_THE_4TH_FINGER","geneSymbols":["ABCC8","COL11A1","IHH","KCNJ11","KNSTRN","NARS2","PIK3CD","SNRPN"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_JOINT_CONTRACTURE_OF_THE_4TH_FINGER":{"collection":"C5:HPO","systematicName":"M46149","pmid":"","exactSource":"HP:0009274","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009274","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_JOINT_CONTRACTURE_OF_THE_4TH_FINGER","geneSymbols":["ASXL3","FBXW11","KDM5B","SIN3A","TBX2","TLK2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_3RD_FINGER_PHALANX_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M37371","pmid":"","exactSource":"HP:0009316","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009316","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_3RD_FINGER_PHALANX_MORPHOLOGY","geneSymbols":["CHSY1","COL2A1","FGFR2","GDF5","GNAS","NSDHL","TWIST1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DEVIATION_OF_THE_3RD_FINGER":{"collection":"C5:HPO","systematicName":"M37372","pmid":"","exactSource":"HP:0009317","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009317","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEVIATION_OF_THE_3RD_FINGER","geneSymbols":["DLK1","FGFR2","GDF5","IHH","KNSTRN","MEG3","PIK3CD","PKDCC","PTRH2","RTL1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APLASIA_HYPOPLASIA_OF_THE_3RD_FINGER":{"collection":"C5:HPO","systematicName":"M46150","pmid":"","exactSource":"HP:0009318","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009318","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_3RD_FINGER","geneSymbols":["COL2A1","EN1","GDF5","GNAS","NSDHL","TBX3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_JOINT_CONTRACTURE_OF_THE_3RD_FINGER":{"collection":"C5:HPO","systematicName":"M46151","pmid":"","exactSource":"HP:0009319","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009319","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_JOINT_CONTRACTURE_OF_THE_3RD_FINGER","geneSymbols":["COL1A1","MED25","NEDD4L","PLOD3","SLC26A2","SMC1A","TBX2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_DISTAL_PHALANX_OF_THE_3RD_FINGER":{"collection":"C5:HPO","systematicName":"M46152","pmid":"","exactSource":"HP:0009357","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009357","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_DISTAL_PHALANX_OF_THE_3RD_FINGER","geneSymbols":["COL2A1","FGFR2","GNAS","NSDHL","TWIST1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APLASIA_OF_THE_FINGERS":{"collection":"C5:HPO","systematicName":"M37373","pmid":"","exactSource":"HP:0009380","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009380","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_OF_THE_FINGERS","geneSymbols":["ADA2","ATP6V1B2","BHLHA9","BMPR1B","CHD7","COL25A1","CUL3","DLX5","DONSON","EN1","ERCC4","ESCO2","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCI","FANCL","FGF10","FGFR2","FGFR3","FIG4","GATA1","GJA1","HEATR3","IFT140","KIF21A","LMBR1","LMNA","MEGF8","NEK1","NIPBL","NSDHL","PHOX2A","PORCN","PSMD12","RAD51","RAD51C","RBM8A","RECQL4","RFWD3","RIPK4","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS7","RSPO2","SALL4","SF3B4","SHH","SLX4","SMOC1","SON","TBX3","TBX5","TRIO","TSR2","TUBA1A","TUBB2B","TUBB3","VAC14","WNT10B","WNT7A","XRCC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ULNAR_DEVIATION_OF_THE_2ND_FINGER":{"collection":"C5:HPO","systematicName":"M37374","pmid":"","exactSource":"HP:0009464","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009464","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ULNAR_DEVIATION_OF_THE_2ND_FINGER","geneSymbols":["ANKRD11","BMP2","BMPR1B","GDF5","HOXA13","PTRH2","TGDS"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ULNAR_DEVIATION_OF_FINGER":{"collection":"C5:HPO","systematicName":"M37375","pmid":"","exactSource":"HP:0009465","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009465","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ULNAR_DEVIATION_OF_FINGER","geneSymbols":["ANKRD11","BCR","BMP2","BMPR1B","CD96","CHRNG","COG1","CRKL","DACT1","DHCR7","FBN2","GDF5","HOXA13","HOXD13","HRAS","LIFR","MAPK1","MYBPC1","MYH3","MYMK","MYMX","NALCN","PAX3","PTRH2","RAB3GAP1","RAB3GAP2","SALL1","SHOX","SLC26A2","TBX22","TGDS","TNNI2","TNNT3","TPM2","WNT7A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RADIAL_DEVIATION_OF_FINGER":{"collection":"C5:HPO","systematicName":"M46154","pmid":"","exactSource":"HP:0009466","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009466","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RADIAL_DEVIATION_OF_FINGER","geneSymbols":["ALG9","ALX3","ANKRD11","ARL6","ATRX","BBS1","BCOR","BMP2","BMPR1B","BPNT2","BRAF","CANT1","CCDC28B","CD96","CHSY1","CILK1","CNOT1","CPLANE1","CRLF1","DVL1","ESCO2","EZH2","FGD1","FGFR2","FGFR3","FLNA","FLNB","GDF5","HERC2","IFT122","IGF1R","IHH","MAGEL2","MAP2K1","MED12","MEGF8","MKRN3","MKS1","NAA10","NOG","NPAP1","OFD1","PHGDH","PIK3R1","PTPN11","PWAR1","PWRN1","ROR2","SF3B4","SIN3A","SLC26A2","SMAD4","SNORD115-1","SNORD116-1","TGDS","TRPV4","WNT5A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RADIAL_DEVIATION_OF_THE_2ND_FINGER":{"collection":"C5:HPO","systematicName":"M37376","pmid":"","exactSource":"HP:0009467","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009467","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RADIAL_DEVIATION_OF_THE_2ND_FINGER","geneSymbols":["BMP2","BMPR1B","CANT1","FLNA","GDF5","IHH","TGDS"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DEVIATION_OF_THE_2ND_FINGER":{"collection":"C5:HPO","systematicName":"M37377","pmid":"","exactSource":"HP:0009468","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009468","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEVIATION_OF_THE_2ND_FINGER","geneSymbols":["ANKRD11","BMP2","BMPR1B","CANT1","CHSY1","CSGALNACT1","FLNA","FOXP2","GDF5","HNRNPR","HOXA13","IFT140","IHH","KNSTRN","MED12","MED25","OPA3","PIK3CD","PTRH2","TGDS"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_JOINT_CONTRACTURE_OF_THE_HAND":{"collection":"C5:HPO","systematicName":"M41373","pmid":"","exactSource":"HP:0009473","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009473","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_JOINT_CONTRACTURE_OF_THE_HAND","geneSymbols":["ACTA1","ACTG2","ADAMTS3","ADAMTSL2","ADAT3","ADGRG6","ALG3","ALX1","ALX3","AMER1","ANO5","ANTXR2","APC2","ARID1B","ARPC4","ASXL3","AUTS2","BCOR","BCR","CANT1","CAPN3","CASZ1","CAV1","CCBE1","CCDC22","CCN2","CCN6","CCR6","CDC45","CDC6","CDH3","CDT1","CHRNG","CHST3","CLCF1","CNTN1","COG5","COL11A1","COL11A2","COL12A1","COL1A1","COL2A1","COL6A1","COL6A2","COL6A3","CRKL","CRLF1","CSGALNACT1","CTCF","CTDP1","CUL4B","DDR2","DHCR24","DHODH","DLK1","DLL3","DOK7","DVL1","DVL3","DYRK1A","ECE1","EED","EFNB1","EMG1","ERCC1","ERCC2","ERCC5","ERCC6","EZH2","FAT4","FBN1","FBN2","FBXO28","FBXW11","FERMT1","FGD1","FGFR1","FGFR3","FHL1","FKTN","FLNA","FLVCR1","FZD2","GABRD","GDAP1","GDF5","GJA1","GLDN","GLI3","GMNN","GON7","GPC3","GPC4","GPKOW","H4C9","HACD1","HES7","HINT1","HK1","HLA-DRB1","HNRNPA1","HOXD13","HSPB1","HSPG2","IDS","IDUA","IGHMBP2","IKBKG","IL6ST","INF2","IPO8","IRF5","ITGA7","JARID2","KAT6B","KCNAB2","KCNK9","KDM5B","KDM5C","KIAA0319L","KIF21A","KIF5A","KMT2A","KMT2B","KRT1","KRT14","KRT16","KRT9","L1CAM","LAGE3","LAMB3","LARGE1","LFNG","LIFR","LMBR1","LMNA","LMX1B","LUZP1","MAFB","MAP3K20","MAP3K7","MAPK1","MBTPS2","MED12","MED25","MEG3","MEGF10","MESP2","MKS1","MMP2","MMP23B","MORC2","MUSK","MYBPC1","MYH3","MYL11","MYL2","MYOD1","NAA10","NALCN","NDRG1","NEDD4L","NEFL","NLRP3","NOD2","NOG","NSD1","NUP107","NUP133","NUP88","NXN","OCRL","ORC1","ORC4","ORC6","OSGEP","PAX3","PDGFRB","PDPN","PDXK","PEX1","PEX5","PEX6","PHGDH","PIEZO2","PIGL","PITX1","PLEKHG5","PLOD3","PMP22","POLR3A","POLR3GL","POR","PORCN","PQBP1","PRDM16","PRG4","PRKCZ","PSMB8","PTRH2","PYROXD1","RAB23","RAB3GAP1","RAPSN","RERE","RIPPLY2","ROR2","RPL10","RTL1","RTTN","SCARF2","SCN4A","SELENON","SETD2","SH3PXD2B","SHH","SIGMAR1","SIN3A","SKI","SLC18A3","SLC26A2","SLC29A3","SLC35A2","SLC35A3","SLC39A13","SMAD3","SMARCAD1","SMC1A","SMG9","SMOC1","SOX9","SPEN","SUZ12","SVIL","SYNE1","TBC1D2B","TBR1","TBX15","TBX2","TBX3","TCTN3","TDO2","TGDS","TGFB3","TGFBR1","TGFBR2","TLK2","TMEM218","TMEM70","TNNI2","TNNT3","TOR1AIP1","TP53RK","TP63","TPM2","TPM3","TPRKB","TRPS1","TRPV4","TUBA1A","TUBB3","TWIST2","UBA1","UBE4B","UPF3B","UROS","WDR4","WDR73","WNT5A","XYLT1","YRDC","ZDHHC9","ZMPSTE24","ZNF407"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DEVIATION_OF_THE_HAND_OR_OF_FINGERS_OF_THE_HAND":{"collection":"C5:HPO","systematicName":"M37378","pmid":"","exactSource":"HP:0009484","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009484","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEVIATION_OF_THE_HAND_OR_OF_FINGERS_OF_THE_HAND","geneSymbols":["ABCC8","ABL1","ACVR1","ADGRG6","ADNP","AFF2","AGO2","AKT1","ALDH1A2","ALG12","ALG9","ALX1","ALX3","AMER1","AMMECR1","ANKRD11","AP1G1","ARID1B","ARL6","ASXL3","ATG7","ATN1","ATP2B1","ATP6V1B2","ATR","ATRIP","ATRX","AUTS2","B3GLCT","B9D2","BAP1","BAZ1B","BBS1","BCL7B","BCOR","BCR","BGN","BHLHA9","BICD2","BLM","BLTP1","BMP2","BMP4","BMPR1B","BPNT2","BPTF","BRAF","BRAT1","BRCA1","BRCA2","BRD4","BRF1","BRIP1","BUB1","BUB1B","BUB3","BUD23","CANT1","CASZ1","CBL","CCDC22","CCDC28B","CCDC32","CCDC47","CCDC8","CCNK","CCNQ","CD96","CDC42","CDC45","CDC6","CDH11","CDKN1C","CDT1","CENPE","CENPJ","CEP152","CEP55","CEP57","CHD7","CHRNA7","CHRNG","CHST11","CHST3","CHSY1","CILK1","CITED2","CKAP2L","CLCN3","CLIP2","CNOT1","CNOT2","CNOT3","CNTN1","COASY","COG1","COG5","COG7","COG8","COL11A1","COL27A1","COL9A1","COL9A2","COL9A3","COMP","CPLANE1","CREBBP","CRIPT","CRKL","CRLF1","CSGALNACT1","CSNK2A1","CTCF","CTU2","CUL4B","CUL7","DACT1","DDX11","DEAF1","DHCR7","DHPS","DLK1","DLX3","DNA2","DNAJC30","DOK7","DONSON","DPAGT1","DPF2","DPYSL5","DSP","DVL1","DVL3","DYM","EBP","EFNB1","EFTUD2","EIF4A3","EIF4H","ELN","EMG1","EP300","EPB41L1","ERCC4","ESCO2","EVC","EVC2","EXT2","EZH2","FAM149B1","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FAT4","FBN2","FGD1","FGF16","FGFR2","FGFR3","FKBP6","FLII","FLNA","FLNB","FLT4","FOXP2","FRA10AC1","FZD2","GABRD","GATA4","GATA5","GATA6","GDF1","GDF5","GJA1","GJA5","GJA8","GLI3","GMNN","GNB2","GPC3","GPC4","GRB10","GTF2I","GTF2IRD1","GTF2IRD2","H19","H3-3B","H4C3","HDAC4","HDAC8","HEATR3","HERC2","HIC1","HMGA2","HNRNPH1","HNRNPK","HNRNPR","HOXA11","HOXA13","HOXD13","HPGD","HRAS","HSPG2","IFT122","IFT140","IFT43","IFT52","IGF1","IGF1R","IGF2","IHH","IKBKG","IQSEC2","IRX5","JAG1","JUP","KAT6B","KAT8","KCNAB2","KCNH1","KCNJ11","KCNJ2","KCNK4","KCTD1","KDM1A","KDM4B","KDM6B","KDR","KIAA0753","KIF7","KIFBP","KLF13","KMT2A","KMT2B","KNSTRN","KPTN","KRAS","L1CAM","LAMA5","LBR","LEMD3","LIFR","LIG4","LIMK1","LMBR1","LMNA","LMNB2","LMX1B","LONP1","LTBP1","LUZP1","LZTR1","MACROH2A1","MAD2L2","MADD","MAF","MAFB","MAGEL2","MAN1B1","MAN2C1","MAP1B","MAP2K1","MAP3K7","MAPK1","MAPK8IP3","MAPRE2","MASP1","MBD5","MCTP2","MECOM","MECP2","MED12","MED25","MEF2C","MEG3","MEGF8","METTL27","MGAT2","MIA3","MITF","MKRN3","MKS1","MLXIPL","MMP23B","MOGS","MRAS","MUSK","MYBPC1","MYCN","MYH3","MYL11","MYMK","MYMX","MYOD1","NAA10","NAA20","NALCN","NARS2","NCF1","NEDD4L","NEK1","NEK9","NEXMIF","NFIX","NIN","NIPBL","NKX2-5","NKX2-6","NKX3-2","NOG","NONO","NPAP1","NPR2","NRAS","NSD2","NSUN2","NUP37","NUP85","NXN","OBSL1","ODC1","OFD1","OGT","OPA3","ORC1","ORC4","ORC6","OTUD5","PACS1","PACS2","PAFAH1B1","PAICS","PALB2","PAX3","PCDHGC4","PCNT","PDE6D","PDPN","PEX1","PHF21A","PHGDH","PHIP","PI4KA","PIEZO2","PIGH","PIGL","PIGN","PIGS","PIGY","PIK3CD","PIK3R1","PITX1","PKDCC","PLAG1","PLK4","PLOD3","PLXND1","PNPLA6","POLA1","PPP1R21","PPP2R1A","PQBP1","PRDM16","PRKACB","PRKCZ","PRKDC","PRR12","PTEN","PTF1A","PTH1R","PTPN11","PTRH2","PUF60","PWAR1","PWRN1","QRICH1","RAB11B","RAB18","RAB23","RAB3GAP1","RAB3GAP2","RAD21","RAD51","RAD51C","RAF1","RAI1","RASA2","RB1","RBBP8","RBM28","RBM8A","RECQL","RECQL4","RERE","REV3L","RFC2","RFWD3","RIT1","RNF216","RNU4ATAC","ROR2","RPL10","RRAS","RRAS2","RSPRY1","RTL1","RUNX2","RYR3","SALL1","SALL4","SAMD9","SATB2","SEMA3E","SETBP1","SF3B4","SH3PXD2B","SHANK3","SHH","SHMT2","SHOX","SIAH1","SIK3","SIN3A","SKI","SLC26A2","SLC2A10","SLC9A7","SLX4","SMAD4","SMARCA2","SMC1A","SMC3","SMOC1","SNORD115-1","SNORD116-1","SNRPB","SNRPN","SOS1","SOS2","SOST","SOX4","SOX6","SPART","SPECC1L","SPEN","SPOP","SPRED1","SPRED2","SRCAP","STAG1","STAG2","STX1A","TBC1D24","TBL2","TBX1","TBX15","TBX22","TBX4","TBX5","TCF20","TCF4","TCTN3","TELO2","TFAP2A","TFAP2B","TGDS","TMEM147","TMEM216","TMEM270","TMEM94","TNNI2","TNNT3","TOPORS","TP63","TPM2","TPR","TRAIP","TRAPPC9","TRIO","TRIP13","TRPM3","TRPS1","TRPV4","TRRAP","TWIST1","TWIST2","UBA2","UBE2T","UBE3A","UBE3B","UBE4B","UBR1","USP7","VPS13B","VPS37D","WDR11","WDR19","WDR35","WDR4","WIPI2","WNT5A","WNT7A","XRCC2","XRCC4","XYLT1","YWHAE","YY1AP1","ZC4H2","ZEB2","ZFPM2","ZIC3","ZMYM2","ZNF292","ZNF462"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RADIAL_DEVIATION_OF_THE_HAND_OR_OF_FINGERS_OF_THE_HAND":{"collection":"C5:HPO","systematicName":"M37379","pmid":"","exactSource":"HP:0009485","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009485","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RADIAL_DEVIATION_OF_THE_HAND_OR_OF_FINGERS_OF_THE_HAND","geneSymbols":["ALG9","ALX3","ANKRD11","ARL6","ATRX","BBS1","BCOR","BGN","BMP2","BMPR1B","BPNT2","BRAF","CANT1","CCDC28B","CD96","CHSY1","CILK1","CNOT1","COL9A1","COL9A2","COL9A3","CPLANE1","CRLF1","DVL1","EIF4A3","ESCO2","EZH2","FGD1","FGFR2","FGFR3","FLNA","FLNB","GDF5","GLI3","HERC2","IFT122","IGF1R","IHH","MAGEL2","MAP2K1","MED12","MEGF8","MKRN3","MKS1","NAA10","NOG","NPAP1","OFD1","PHGDH","PIK3R1","PITX1","PTPN11","PWAR1","PWRN1","RBM8A","RECQL4","ROR2","SALL4","SAMD9","SF3B4","SIN3A","SLC26A2","SMAD4","SNORD115-1","SNORD116-1","TGDS","TRPV4","WNT5A","ZC4H2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RADIAL_DEVIATION_OF_THE_HAND":{"collection":"C5:HPO","systematicName":"M37380","pmid":"","exactSource":"HP:0009486","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009486","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RADIAL_DEVIATION_OF_THE_HAND","geneSymbols":["BGN","COL9A1","COL9A2","COL9A3","EIF4A3","GLI3","PITX1","RBM8A","RECQL4","SALL4","SAMD9","ZC4H2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ULNAR_DEVIATION_OF_THE_HAND":{"collection":"C5:HPO","systematicName":"M37381","pmid":"","exactSource":"HP:0009487","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009487","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ULNAR_DEVIATION_OF_THE_HAND","geneSymbols":["ADGRG6","ALG9","ASXL3","B9D2","BICD2","CILK1","COL9A1","COL9A2","COL9A3","COMP","DPYSL5","FAT4","FLNA","FRA10AC1","LAMA5","LBR","MAFB","MAN2C1","MAP3K7","MED12","MUSK","MYH3","PAX3","PCDHGC4","PEX1","RBM28","RBM8A","RYR3","SLC26A2","SPART","ZEB2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CONTRACTURE_OF_THE_PROXIMAL_INTERPHALANGEAL_JOINT_OF_THE_2ND_FINGER":{"collection":"C5:HPO","systematicName":"M47140","pmid":"","exactSource":"HP:0009540","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009540","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONTRACTURE_OF_THE_PROXIMAL_INTERPHALANGEAL_JOINT_OF_THE_2ND_FINGER","geneSymbols":["COL1A1","LFNG","NEDD4L","PLOD3","RPL10"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_PHALANGES_OF_THE_2ND_FINGER":{"collection":"C5:HPO","systematicName":"M37382","pmid":"","exactSource":"HP:0009541","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009541","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_PHALANGES_OF_THE_2ND_FINGER","geneSymbols":["BHLHA9","BMP2","BMPR1B","COL2A1","FGFR2","FIG4","GDF5","HOXD13","IFT140","INTU","KIF15","MYCN","NSDHL","RUNX2","SRCAP","TWIST1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_DISTAL_PHALANX_OF_THE_2ND_FINGER":{"collection":"C5:HPO","systematicName":"M45432","pmid":"","exactSource":"HP:0009542","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009542","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_DISTAL_PHALANX_OF_THE_2ND_FINGER","geneSymbols":["BMPR1B","COL2A1","FGFR2","FIG4","NSDHL","TWIST1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_MIDDLE_PHALANX_OF_THE_2ND_FINGER":{"collection":"C5:HPO","systematicName":"M37383","pmid":"","exactSource":"HP:0009543","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009543","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_MIDDLE_PHALANX_OF_THE_2ND_FINGER","geneSymbols":["BHLHA9","BMP2","BMPR1B","FIG4","GDF5","HOXD13","IFT140","INTU","MYCN","NSDHL","RUNX2","SRCAP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABSENT_TIBIA":{"collection":"C5:HPO","systematicName":"M43366","pmid":"","exactSource":"HP:0009556","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009556","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_TIBIA","geneSymbols":["ATP7A","CHD7","DYNC2H1","GLI3","LMBR1","PITX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SHORT_MIDDLE_PHALANX_OF_THE_2ND_FINGER":{"collection":"C5:HPO","systematicName":"M41375","pmid":"","exactSource":"HP:0009577","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009577","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_MIDDLE_PHALANX_OF_THE_2ND_FINGER","geneSymbols":["GDF5","HOXD13","INTU","MYCN","RUNX2","SRCAP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_VESTIBULAR_SCHWANNOMA":{"collection":"C5:HPO","systematicName":"M47141","pmid":"","exactSource":"HP:0009588","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009588","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VESTIBULAR_SCHWANNOMA","geneSymbols":["COQ6","HRAS","KARS1","LZTR1","NF2","SMARCB1","SPRED1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_VESTIBULOCOCHLEAR_NERVE":{"collection":"C5:HPO","systematicName":"M37385","pmid":"","exactSource":"HP:0009591","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009591","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_VESTIBULOCOCHLEAR_NERVE","geneSymbols":["COCH","COQ6","DKK1","HRAS","KARS1","LZTR1","NF2","PRNP","SMARCB1","SPRED1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ASTROCYTOMA":{"collection":"C5:HPO","systematicName":"M37386","pmid":"","exactSource":"HP:0009592","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009592","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ASTROCYTOMA","geneSymbols":["APC","APC2","BRCA2","CDKN2A","CHEK2","ERBB2","FGFR1","IDH1","IDH2","IFNG","MDM2","MLH1","MSH3","MSH6","NF1","NF2","NSD1","PMS2","POT1","SETD2","TP53","TSC1","TSC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RETINAL_HAMARTOMA":{"collection":"C5:HPO","systematicName":"M37387","pmid":"","exactSource":"HP:0009594","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009594","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETINAL_HAMARTOMA","geneSymbols":["AKT1","CCND1","DLST","FH","IFNG","KIF1B","MAX","MDH2","NF1","NF2","PTEN","RET","SDHA","SDHAF2","SDHB","SDHC","SDHD","SLC25A11","TMEM127","TSC1","TSC2","VHL"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_THUMB_CONTRACTURE":{"collection":"C5:HPO","systematicName":"M41376","pmid":"","exactSource":"HP:0009600","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009600","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THUMB_CONTRACTURE","geneSymbols":["BMP4","DLK1","ECE1","L1CAM","MEG3","RTL1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APLASIA_HYPOPLASIA_OF_THE_THUMB":{"collection":"C5:HPO","systematicName":"M37388","pmid":"","exactSource":"HP:0009601","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009601","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_THUMB","geneSymbols":["ACAN","ACVR1","ADA2","ADAMTS10","APC","ATP6V1B2","BCOR","BHLHA9","BICRA","BMPR1B","BRCA2","BRD4","BRIP1","CANT1","CHD7","CHN1","CHST11","COL2A1","CPLX1","CREBBP","CTBP1","CUL3","DHCR7","DHODH","DLK1","DONSON","EIF4A3","EP300","ERCC4","ESCO2","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCI","FANCL","FBN1","FGF10","FGFR1","FGFR2","FGFR3","FGFRL1","FIG4","FLNA","FRAS1","FZD2","GATA1","GDF5","GNAS","HDAC8","HEATR3","HOXA13","IHH","KCNH1","KDM1A","KNSTRN","LAMA5","LETM1","LIG4","LMBR1","LMNB2","LRP4","LTBP2","MAFB","MAP3K7","MED12","MEG3","MGP","MIR17HG","MYCN","NELFA","NIPBL","NOG","NSD2","NSUN2","PALB2","PCNT","PIGG","PIK3CD","PKDCC","PLXND1","PSMD12","PTCH1","RAD21","RAD51","RAD51C","RB1","RBM8A","RECQL4","REV3L","RFWD3","RIPK4","RNU4ATAC","ROBO1","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS7","RSPO2","RTL1","SALL4","SETBP1","SF3B4","SHH","SIN3A","SLC26A2","SLX4","SMC1A","SMC3","SON","SOX9","SRCAP","SVBP","TBX5","TFAP2A","TP63","TRIO","TRPM3","TSR2","UBE2T","VAC14","VPS35L","WIPI2","XRCC2","ZMYM2","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THUMB_PHALANX":{"collection":"C5:HPO","systematicName":"M46155","pmid":"","exactSource":"HP:0009602","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009602","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THUMB_PHALANX","geneSymbols":["ACAN","ACTB","ACTG1","ACVR1","ADA2","ADNP","ALG9","ALX4","ATP6V1B2","B3GAT3","BCOR","BICRA","BMP2","BMPR1A","BMPR1B","BPNT2","BPTF","BRCA1","BRCA2","BRD4","BRIP1","CANT1","CBFB","CHN1","CHST3","CHSY1","CILK1","CNOT1","COL2A1","CREBBP","CWF19L1","DACT1","DHX30","DLK1","DLX5","DNM1L","DVL1","DVL3","EED","EP300","ERCC4","ESCO2","EXOSC2","EZH2","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FGF10","FGF9","FGFR1","FGFR2","FGFR3","FIG4","FLNA","FLNB","FZD2","G6PC3","GATA1","GATA4","GDF5","GJA5","GJA8","GLI1","GLI3","GNAS","GPC3","GPC4","H3-3A","H3-3B","HDAC8","HEATR3","HNRNPR","HOXA13","HOXD13","HPGD","IHH","INPPL1","INTU","KCNH1","KCNN3","KCTD1","KIF7","KNSTRN","LAMA5","LIG4","LMBR1","MAD2L2","MAFB","MAN2C1","MAP3K7","MED12","MEG3","MEGF8","MEIS2","MSX2","NAA10","NIPBL","NOG","NONO","NSD1","NSUN2","NUP107","NXN","OFD1","OTUD6B","PACS1","PAH","PALB2","PCDHGC4","PCNT","PIGB","PIGF","PIK3CD","POGZ","PPP2R3C","PQBP1","PRKD1","PRKG2","PSMD12","PTCH1","PTEN","PUF60","PYCR2","RAB23","RAD21","RAD51","RAD51C","RBM8A","RFWD3","RLIM","ROBO1","ROR2","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS7","RTL1","SALL1","SALL4","SATB2","SETBP1","SF3B2","SF3B4","SHH","SHMT2","SIAH1","SLC26A2","SLX4","SMC1A","SMC3","SMO","SMOC1","SNIP1","SOX9","SRCAP","SUMF1","SUZ12","TBC1D24","TBX5","TP63","TRIO","TRPM3","TSR2","TTC26","TWIST1","UBE2T","USP9X","VAC14","VPS35L","WNT5A","XRCC2","XYLT1","ZNF668"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DEVIATION_OF_THE_THUMB":{"collection":"C5:HPO","systematicName":"M37389","pmid":"","exactSource":"HP:0009603","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009603","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEVIATION_OF_THE_THUMB","geneSymbols":["ALG12","ALG9","ANKRD11","B3GLCT","BAP1","BMP4","BPNT2","BRCA1","BRD4","CDC42","CHSY1","CILK1","CNOT1","CRIPT","DHCR7","EFTUD2","EIF4A3","ESCO2","FANCB","FGFR2","FLNA","FLNB","FRA10AC1","GATA4","HDAC8","HEATR3","HOXA13","KCNH1","LONP1","MEGF8","MGAT2","NIPBL","NKX3-2","NOG","PTRH2","RAD21","RAD51C","RECQL","RRAS2","SHMT2","SIN3A","SLC26A2","SMC1A","SMC3","TFAP2A","TP63","ZC4H2","ZIC3","ZNF462"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DUPLICATION_OF_THE_DISTAL_PHALANX_OF_THE_THUMB":{"collection":"C5:HPO","systematicName":"M37390","pmid":"","exactSource":"HP:0009612","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009612","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DUPLICATION_OF_THE_DISTAL_PHALANX_OF_THE_THUMB","geneSymbols":["BMPR1B","CANT1","GDF5","KIF7","LMBR1","PAH","PPP2R3C"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_DISTAL_PHALANX_OF_THE_THUMB":{"collection":"C5:HPO","systematicName":"M37391","pmid":"","exactSource":"HP:0009617","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009617","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_DISTAL_PHALANX_OF_THE_THUMB","geneSymbols":["ALG9","BMPR1B","BPNT2","CANT1","CHSY1","CILK1","CNOT1","CREBBP","CWF19L1","EP300","FGFR2","FLNA","FLNB","GDF5","GLI1","GLI3","GNAS","HOXD13","IHH","KCNH1","KIF7","KNSTRN","LMBR1","MAP3K7","MEGF8","PAH","PIK3CD","PPP2R3C","PTCH1","SALL4","SLC26A2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_PROXIMAL_PHALANX_OF_THE_THUMB":{"collection":"C5:HPO","systematicName":"M37392","pmid":"","exactSource":"HP:0009618","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009618","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_PROXIMAL_PHALANX_OF_THE_THUMB","geneSymbols":["BMPR1B","CHSY1","FGFR2","IHH","NONO","PQBP1","RAB23"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PROXIMAL_PLACEMENT_OF_THUMB":{"collection":"C5:HPO","systematicName":"M46156","pmid":"","exactSource":"HP:0009623","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009623","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROXIMAL_PLACEMENT_OF_THUMB","geneSymbols":["ALG12","ANKRD11","B3GLCT","BAP1","BMP4","BRCA1","BRD4","CDC42","CRIPT","DHCR7","EFTUD2","EIF4A3","ESCO2","FANCB","FLNA","FRA10AC1","GATA4","HDAC8","HOXA13","KCNH1","LONP1","MGAT2","NIPBL","NKX3-2","NOG","PTRH2","RAD21","RAD51C","RECQL","RRAS2","SHMT2","SIN3A","SLC26A2","SMC1A","SMC3","TFAP2A","TP63","ZC4H2","ZIC3","ZNF462"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SHORT_DISTAL_PHALANX_OF_THE_THUMB":{"collection":"C5:HPO","systematicName":"M47142","pmid":"","exactSource":"HP:0009650","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009650","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_DISTAL_PHALANX_OF_THE_THUMB","geneSymbols":["BMPR1B","FLNA","GNAS","KNSTRN","MAP3K7","PIK3CD","PTCH1","SALL4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APLASIA_HYPOPLASIA_OF_THE_PHALANGES_OF_THE_THUMB":{"collection":"C5:HPO","systematicName":"M37395","pmid":"","exactSource":"HP:0009658","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009658","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_PHALANGES_OF_THE_THUMB","geneSymbols":["ACVR1","BMPR1B","BRD4","CANT1","CNOT1","DLK1","FANCD2","FANCI","FGFR2","FIG4","FLNA","FZD2","GDF5","GNAS","HDAC8","HOXA13","IHH","KCNH1","KNSTRN","LAMA5","LMBR1","MAP3K7","MEG3","NIPBL","NOG","PCNT","PIK3CD","PTCH1","RAD21","ROBO1","RTL1","SALL4","SETBP1","SHH","SMC1A","SMC3","SOX9","SRCAP","TRIO","VAC14","VPS35L","XRCC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PARTIAL_ABSENCE_OF_THUMB":{"collection":"C5:HPO","systematicName":"M37396","pmid":"","exactSource":"HP:0009659","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009659","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PARTIAL_ABSENCE_OF_THUMB","geneSymbols":["FANCD2","FGFR2","FIG4","LMBR1","SHH","TRIO","VAC14","XRCC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SHORT_PHALANX_OF_THE_THUMB":{"collection":"C5:HPO","systematicName":"M37397","pmid":"","exactSource":"HP:0009660","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009660","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_PHALANX_OF_THE_THUMB","geneSymbols":["ACVR1","BMPR1B","BRD4","CANT1","DLK1","FANCI","FLNA","FZD2","GDF5","GNAS","HDAC8","HOXA13","IHH","KCNH1","KNSTRN","LAMA5","MAP3K7","MEG3","NIPBL","NOG","PCNT","PIK3CD","PTCH1","RAD21","ROBO1","RTL1","SALL4","SETBP1","SMC1A","SMC3","SOX9","SRCAP","VPS35L"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CONTRACTURE_OF_THE_DISTAL_INTERPHALANGEAL_JOINT_OF_THE_FINGERS":{"collection":"C5:HPO","systematicName":"M46157","pmid":"","exactSource":"HP:0009697","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009697","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONTRACTURE_OF_THE_DISTAL_INTERPHALANGEAL_JOINT_OF_THE_FINGERS","geneSymbols":["IDUA","KMT2A","LMX1B","SIN3A","SOX9","TOR1AIP1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CARPAL_SYNOSTOSIS":{"collection":"C5:HPO","systematicName":"M37399","pmid":"","exactSource":"HP:0009702","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009702","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CARPAL_SYNOSTOSIS","geneSymbols":["APC","ATP7A","B3GALT6","BHLHA9","BMPR1B","BPNT2","CHSY1","COL27A1","DYNC2LI1","ESCO2","EVC","EVC2","FBLN1","FGFR2","FGFR3","FLNA","FLNB","GDF5","GLI1","HOXA13","HOXD13","LMBR1","LRP4","MACROH2A1","MAP3K7","MYH3","NOG","NXN","PAX3","PITX1","POR","PRKACA","PRKACB","RBM8A","RECQL4","ROR2","SALL4","SHH","SMOC1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INCREASED_CSF_INTERFERON_ALPHA":{"collection":"C5:HPO","systematicName":"M47143","pmid":"","exactSource":"HP:0009709","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009709","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_CSF_INTERFERON_ALPHA","geneSymbols":["ADAR","IFIH1","LSM11","RNASEH2A","RNASEH2B","RNASEH2C","RNU7-1","SAMHD1","TREX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CHILBLAINS":{"collection":"C5:HPO","systematicName":"M37400","pmid":"","exactSource":"HP:0009710","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009710","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHILBLAINS","geneSymbols":["ADAR","C1QB","DNASE2","IFIH1","LSM11","RNASEH2A","RNASEH2B","RNASEH2C","RNU7-1","SAMHD1","TREX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_EPIDIDYMIS_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M37401","pmid":"","exactSource":"HP:0009714","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009714","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_EPIDIDYMIS_MORPHOLOGY","geneSymbols":["BTK","CCND1","CLDN2","CREBBP","DHH","EP300","HNF1B","IGHG2","IGKC","PSMB8","SRCAP","UNG","VHL"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PAPILLARY_CYSTADENOMA_OF_THE_EPIDIDYMIS":{"collection":"C5:HPO","systematicName":"M37402","pmid":"","exactSource":"HP:0009715","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009715","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PAPILLARY_CYSTADENOMA_OF_THE_EPIDIDYMIS","geneSymbols":["CCND1","CREBBP","EP300","HNF1B","VHL"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPOMELANOTIC_MACULE":{"collection":"C5:HPO","systematicName":"M43367","pmid":"","exactSource":"HP:0009719","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009719","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOMELANOTIC_MACULE","geneSymbols":["DNAJC21","IFNG","KRT14","KRT5","POFUT1","SASH1","TSC1","TSC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ADENOMA_SEBACEUM":{"collection":"C5:HPO","systematicName":"M37403","pmid":"","exactSource":"HP:0009720","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009720","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ADENOMA_SEBACEUM","geneSymbols":["AKT1","HRAS","IFNG","KLLN","KRAS","KRT17","MEN1","MLH1","MSH2","MSH6","NRAS","PIK3CA","PLCD1","PTEN","SDHB","SDHC","SDHD","SEC23B","TSC1","TSC2","USF3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SHAGREEN_PATCH":{"collection":"C5:HPO","systematicName":"M41377","pmid":"","exactSource":"HP:0009721","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009721","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHAGREEN_PATCH","geneSymbols":["IFNG","PTEN","SLC25A24","TSC1","TSC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DENTAL_ENAMEL_PITS":{"collection":"C5:HPO","systematicName":"M37404","pmid":"","exactSource":"HP:0009722","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009722","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DENTAL_ENAMEL_PITS","geneSymbols":["AMBN","COL17A1","DLX3","DSPP","ITGB4","ITGB6","LAMB3","TSC1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_SUBUNGUAL_REGION":{"collection":"C5:HPO","systematicName":"M37405","pmid":"","exactSource":"HP:0009723","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009723","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_SUBUNGUAL_REGION","geneSymbols":["ATP2A2","CARD14","COL7A1","IFNG","JUP","KDF1","KRT14","KRT17","MBTPS2","TRPV3","TSC1","TSC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BLADDER_NEOPLASM":{"collection":"C5:HPO","systematicName":"M37406","pmid":"","exactSource":"HP:0009725","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009725","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BLADDER_NEOPLASM","geneSymbols":["AKT1","APC","ATP7A","AURKA","AXIN2","BAX","BRAF","BUB1","BUB1B","CCND1","CHEK2","CTNNB1","DCC","DLC1","EP300","FGFR3","FLCN","HRAS","KRAS","MCC","MLH3","NRAS","NTHL1","PDGFRL","PIK3CA","PLA2G2A","PTEN","PTPN12","PTPRJ","RAD54B","RB1","RNF43","SRC","TLR2","TP53"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NEOPLASM_OF_STRIATED_MUSCLE":{"collection":"C5:HPO","systematicName":"M37407","pmid":"","exactSource":"HP:0009728","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009728","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_STRIATED_MUSCLE","geneSymbols":["BUB1","BUB1B","BUB3","CDKN2A","CEP57","CHEK2","DICER1","FOXO1","HRAS","IFNG","KEAP1","MAD1L1","MC1R","MDM2","MLH1","NBN","NF1","NRAS","PAX3","PAX7","PTCH1","SLC22A18","SOX6","TP53","TRIP13","TSC1","TSC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RHABDOMYOMA":{"collection":"C5:HPO","systematicName":"M47144","pmid":"","exactSource":"HP:0009730","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009730","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RHABDOMYOMA","geneSymbols":["IFNG","PTCH1","SOX6","TSC1","TSC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CEREBRAL_HAMARTOMA":{"collection":"C5:HPO","systematicName":"M37409","pmid":"","exactSource":"HP:0009731","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009731","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CEREBRAL_HAMARTOMA","geneSymbols":["CPLANE1","FAM149B1","GCDH","GLI3","IFNG","KIAA0753","KIF7","MAN2C1","OFD1","PDE6D","SIX6","SMO","SOX2","TCTN3","TIAM1","TMEM216","TOPORS","TSC1","TSC2","VPS16"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_GLIOMA":{"collection":"C5:HPO","systematicName":"M37410","pmid":"","exactSource":"HP:0009733","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009733","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GLIOMA","geneSymbols":["APC","APC2","BMPR1A","BRCA2","CDKN1A","CDKN1B","CDKN2A","CDKN2B","CDKN2C","CHEK2","EPCAM","ERBB2","FAN1","FGFR1","IDH1","IDH2","IFNG","KRAS","MDM2","MEN1","MLH1","MLH3","MSH2","MSH3","MSH6","NBN","NF1","NF2","NSD1","PIK3CA","PMS1","PMS2","POT1","PTEN","RELA","RPS20","SEMA4A","SETBP1","SETD2","SMO","SPRED1","TGFBR2","TP53","TSC1","TSC2","ZFTA"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_OPTIC_NERVE_GLIOMA":{"collection":"C5:HPO","systematicName":"M47145","pmid":"","exactSource":"HP:0009734","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009734","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OPTIC_NERVE_GLIOMA","geneSymbols":["IFNG","NF1","SPRED1","TSC1","TSC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_ANTIHELIX_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M37411","pmid":"","exactSource":"HP:0009738","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009738","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ANTIHELIX_MORPHOLOGY","geneSymbols":["AASS","AP4E1","BICRA","CREBBP","EFTUD2","EVC","EVC2","EYA1","FGFR2","FGFR3","FIG4","FLNA","FOXG1","GLI2","KAT6A","KAT6B","KCTD1","LIG4","MGAT2","NR2F1","NSUN2","NUP188","PAX1","PGAP1","PIGN","POR","PYCR2","RAB11B","RAB3GAP1","RAB3GAP2","RBM10","RECQL4","RPL10","SALL1","SCNM1","SLC16A2","STEEP1","TCF3","TOR1A","TWIST1","WAC","XYLT2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LARGE_EARLOBE":{"collection":"C5:HPO","systematicName":"M37412","pmid":"","exactSource":"HP:0009748","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009748","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LARGE_EARLOBE","geneSymbols":["BICRA","BRAF","CDH11","DHCR24","DOCK7","DPYD","EFTUD2","EIF2S3","ELN","FGD1","GJA1","HRAS","MLXIPL","NOTCH2","OTUD5","PGAP3","PGM2L1","PHF6","PHIP","PIGY","PIK3CA","PLXNA1","SETBP1","SLC26A2","SMOC1","SPEN","TMEM94","TPRKB","TRIP12","UFC1","UGDH","VPS53","WARS1","WDR4","ZEB2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APLASIA_OF_THE_PECTORALIS_MAJOR_MUSCLE":{"collection":"C5:HPO","systematicName":"M37413","pmid":"","exactSource":"HP:0009751","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009751","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_OF_THE_PECTORALIS_MAJOR_MUSCLE","geneSymbols":["MYMK","MYMX","PLXND1","REV3L","TBX3","TBX5"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ANKYLOBLEPHARON":{"collection":"C5:HPO","systematicName":"M37414","pmid":"","exactSource":"HP:0009755","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009755","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANKYLOBLEPHARON","geneSymbols":["BCOR","CHUK","CILK1","DDB2","ERCC2","ERCC3","ERCC4","ERCC5","FREM2","IRF6","NAA10","RAX","RIPK4","TP63","XPA","XPC"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_POPLITEAL_PTERYGIUM":{"collection":"C5:HPO","systematicName":"M37415","pmid":"","exactSource":"HP:0009756","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009756","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POPLITEAL_PTERYGIUM","geneSymbols":["BHLHA9","CHRNG","CHUK","GPC6","IRF6","MYH3","PITX1","RIPK4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ANTECUBITAL_PTERYGIUM":{"collection":"C5:HPO","systematicName":"M46158","pmid":"","exactSource":"HP:0009760","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009760","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANTECUBITAL_PTERYGIUM","geneSymbols":["ADGRG6","CHRNG","CHUK","IGF2","KIF14","LMX1B","MYH3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LIMB_PAIN":{"collection":"C5:HPO","systematicName":"M37416","pmid":"","exactSource":"HP:0009763","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009763","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIMB_PAIN","geneSymbols":["ACP5","ALDH18A1","ATL1","ATL3","B2M","BSCL2","CCND1","COL1A1","COL2A1","COL5A1","COL5A2","COL9A1","COL9A2","COL9A3","COMP","CPOX","ERLIN1","FAR1","FLI1","FN1","GJB2","GJB6","HEPHL1","HMBS","HTRA1","HYAL1","IDUA","KRT14","KRT16","KRT17","KRT5","KRT6A","KRT6B","LEMD3","LMX1B","MAFB","MATN3","MFN2","MME","MMP13","MT-ATP6","MT-TK","NAGLU","NLRP12","PRKRA","RASA1","SLCO2A1","SPG7","SPTLC1","SPTLC2","TGFB1","TONSL","TRAPPC2","TREX1","VHL"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LOW_HANGING_COLUMELLA":{"collection":"C5:HPO","systematicName":"M37417","pmid":"","exactSource":"HP:0009765","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009765","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOW_HANGING_COLUMELLA","geneSymbols":["AFF3","AIMP2","ASXL3","ATN1","BICRA","CAPN15","CDC42BPB","CDH11","CKAP2L","CLCN3","CLP1","CREBBP","CTNNB1","EDEM3","EP300","GJA1","GJA5","GJA8","H3-3B","HIVEP2","HNRNPH2","HNRNPR","ITCH","KAT6A","KDM3B","KDM5B","KMT2D","KMT5B","KNL1","LIFR","MGAT2","NOG","PCDHGC4","POC1A","PPP1R21","PQBP1","RAC1","RYR1","SETD2","SMARCA2","SOX11","SRCAP","TAF6","TBCD","THOC6","TRIO","TRIP12","TWIST1","UBE2A","ZEB2","ZMIZ1","ZNF148"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APLASIA_HYPOPLASIA_OF_THE_PHALANGES_OF_THE_HAND":{"collection":"C5:HPO","systematicName":"M37418","pmid":"","exactSource":"HP:0009767","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009767","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_PHALANGES_OF_THE_HAND","geneSymbols":["ABCC9","ACP5","ACTL6B","ACVR1","ADAMTS2","ALG6","ANAPC1","ARHGAP31","ARID1A","ARID1B","ARSL","ATP6V1B2","BCR","BGN","BHLHA9","BMP2","BMP4","BMPR1B","BRD4","BRF1","CANT1","CBFB","CCDC22","CDH11","CEP152","CHST11","CHST3","CHUK","CLCN7","CNOT1","COG4","COL10A1","COL11A2","COL2A1","COMP","CRIPT","CRKL","CWC27","DDR2","DLK1","DLL4","DNMT3A","DOCK6","DPYS","DVL1","DVL3","DYM","DYNC2LI1","EDA","EDA2R","EIF2AK3","EIF4A3","EOGT","EVC","EVC2","EXTL3","FANCD2","FANCI","FBN1","FGFR1","FGFR2","FGFR3","FIG4","FLNA","FLNB","FN1","FRAS1","FTSJ1","FZD2","GATA1","GDF5","GGCX","GJA1","GJA5","GJA8","GLI1","GMNN","GNAS","GNB2","GPC3","GPC4","GPX4","HDAC4","HDAC8","HHAT","HNRNPR","HOXA13","HOXD13","IDH1","IFT122","IFT140","IFT43","IFT52","IFT57","IGF2","IHH","IL11RA","INPPL1","INTU","JAG1","KAT6B","KCNH1","KCNJ2","KCNJ8","KCNN3","KDM5C","KDM6A","KIF15","KMT2A","KMT2D","KNSTRN","LAMA5","LBR","LIFR","LMBR1","LMNA","LONP1","MAP3K7","MAPK1","MBD5","MCTP2","MECOM","MEG3","MEGF8","MGP","MIA3","MIR17HG","MTOR","MYCN","NEPRO","NFIX","NHS","NIN","NIPBL","NOG","NOTCH1","NOTCH2","NPR2","NSDHL","NXN","PCNT","PCYT1A","PDE3A","PDE4D","PDGFRB","PGAP2","PGAP3","PHF6","PIEZO2","PIGB","PIGF","PIGL","PIGN","PIGO","PIGS","PIGV","PIGW","PIGY","PIK3CD","POC1A","POLA1","POR","PORCN","PRKACA","PRKACB","PRKAR1A","PRKG2","PRMT7","PTCH1","PTDSS1","PTH1R","PTHLH","PUF60","RAB23","RAB33B","RAB3GAP2","RAD21","RBBP8","RBM8A","RBPJ","RECQL4","RIPK4","ROBO1","ROR2","RPS6KA3","RTL1","RUNX2","SALL4","SETBP1","SH3PXD2B","SHH","SLC25A24","SLC26A2","SLC39A13","SMARCA2","SMARCB1","SMARCE1","SMC1A","SMC3","SOX11","SOX9","SRCAP","STAMBP","TBC1D24","TBX3","TFAP2B","TGFBR2","TP63","TRIO","TRIP11","TRPS1","TRPV4","TWIST1","VAC14","VPS35L","WDR19","WDR35","WNT5A","WNT7A","XRCC2","XYLT1","ZBTB20","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BROAD_PHALANGES_OF_THE_HAND":{"collection":"C5:HPO","systematicName":"M46159","pmid":"","exactSource":"HP:0009768","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009768","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BROAD_PHALANGES_OF_THE_HAND","geneSymbols":["ACAN","ADAMTS10","ADNP","ALX4","AMMECR1","B3GALT6","B3GAT3","BGN","BICRA","BMP2","BMPR1A","BPTF","CBFB","CDKL5","CHST3","COL10A1","COL2A1","CREBBP","DACT1","DHX30","DLK1","DNM1L","DVL1","DVL3","EED","EP300","EXOSC2","EXTL3","EZH2","FBN1","FGF9","FGFR1","FGFR2","FGFR3","FLNA","FLNB","G6PC3","GATA4","GATAD2B","GDF5","GJA5","GJA8","GLI3","GNAS","GPC3","GPC4","H3-3A","H3-3B","HNRNPR","HOXD13","HPGD","HS2ST1","IFIH1","IFT122","INPPL1","KCNH1","KCTD1","KIF22","KNSTRN","LIG4","LMBR1","MAN2C1","MAP3K7","MED12","MEG3","MEGF8","MEIS2","MSX2","NEPRO","NOG","NSD1","NSUN2","NXN","OFD1","OTUD6B","PACS1","PCDHGC4","PIK3CD","POGZ","PRKD1","PRKG2","PSMD12","PTEN","PUF60","PYCR2","RAB23","RBM8A","RLIM","RNU4ATAC","ROR2","RTL1","SALL1","SATB2","SETD5","SIAH1","SMARCA2","SMO","SMOC1","SNIP1","SRCAP","SUMF1","SUZ12","TBX5","TRPM3","TTC26","TWIST1","USP9X","WDR19","WLS","WNT5A","XYLT1","ZNF141","ZNF668"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SYMPHALANGISM_AFFECTING_THE_PHALANGES_OF_THE_HAND":{"collection":"C5:HPO","systematicName":"M37420","pmid":"","exactSource":"HP:0009773","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009773","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SYMPHALANGISM_AFFECTING_THE_PHALANGES_OF_THE_HAND","geneSymbols":["BHLHA9","BMPR1B","CHRNG","CHSY1","FGF9","FGFR2","GDF5","HOXD13","IHH","MYH3","MYH8","NOG","NONO","PQBP1","PTDSS1","ROR2","SLC26A2","TFAP2B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_TRIANGULAR_SHAPED_PHALANGES_OF_THE_HAND":{"collection":"C5:HPO","systematicName":"M37421","pmid":"","exactSource":"HP:0009774","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009774","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TRIANGULAR_SHAPED_PHALANGES_OF_THE_HAND","geneSymbols":["BMP2","BMPR1B","CANT1","CHST11","DDR2","GDF5","KCNH1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_AMNIOTIC_CONSTRICTION_RING":{"collection":"C5:HPO","systematicName":"M43368","pmid":"","exactSource":"HP:0009775","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009775","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AMNIOTIC_CONSTRICTION_RING","geneSymbols":["FERMT1","GJA1","GJB2","GLE1","KANK2","KRT1","LORICRIN","POMP","SMARCAD1","TP63","TRPV3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABSENT_THUMB":{"collection":"C5:HPO","systematicName":"M37422","pmid":"","exactSource":"HP:0009777","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009777","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_THUMB","geneSymbols":["ADA2","CUL3","DONSON","ERCC4","ESCO2","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCI","FANCL","FGF10","FGFR2","FGFR3","FIG4","GATA1","HEATR3","PSMD12","RAD51","RAD51C","RBM8A","RECQL4","RFWD3","RIPK4","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS7","RSPO2","SALL4","SF3B4","SLX4","SON","TBX5","TSR2","VAC14","XRCC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SHORT_THUMB":{"collection":"C5:HPO","systematicName":"M37423","pmid":"","exactSource":"HP:0009778","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009778","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_THUMB","geneSymbols":["ACAN","ACVR1","ADA2","ADAMTS10","APC","ATP6V1B2","BCOR","BHLHA9","BICRA","BMPR1B","BRCA2","BRD4","BRIP1","CANT1","CHD7","CHST11","COL2A1","CPLX1","CREBBP","CTBP1","DHCR7","DHODH","DLK1","EIF4A3","EP300","ESCO2","FANCA","FANCC","FANCD2","FANCE","FANCF","FANCI","FBN1","FGF10","FGFR1","FGFR2","FGFR3","FGFRL1","FIG4","FLNA","FZD2","GATA1","GDF5","GNAS","HDAC8","HEATR3","HOXA13","IHH","KCNH1","KDM1A","KNSTRN","LAMA5","LETM1","LMNB2","LRP4","LTBP2","MAP3K7","MED12","MEG3","MGP","MIR17HG","MYCN","NELFA","NIPBL","NOG","NSD2","PALB2","PCNT","PIGG","PIK3CD","PKDCC","PSMD12","PTCH1","RAD21","RAD51C","RBM8A","RECQL4","RIPK4","RNU4ATAC","ROBO1","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS7","RTL1","SALL4","SETBP1","SIN3A","SLC26A2","SLX4","SMC1A","SMC3","SOX9","SRCAP","SVBP","TFAP2A","TRPM3","TSR2","UBE2T","VPS35L","WIPI2","ZMYM2","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_3_4_TOE_SYNDACTYLY":{"collection":"C5:HPO","systematicName":"M46160","pmid":"","exactSource":"HP:0009779","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009779","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_3_4_TOE_SYNDACTYLY","geneSymbols":["CCNQ","CDH3","GJA1","HOXD13","RHOA","SALL1","SMO"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PERIANAL_ABSCESS":{"collection":"C5:HPO","systematicName":"M41378","pmid":"","exactSource":"HP:0009789","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009789","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERIANAL_ABSCESS","geneSymbols":["CYBC1","ELANE","ELF4","G6PC3","IKZF3","IL10RA","IL10RB","MNX1","RIPK1","TGFB1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_TERATOMA":{"collection":"C5:HPO","systematicName":"M37424","pmid":"","exactSource":"HP:0009792","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009792","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TERATOMA","geneSymbols":["APC2","BCL10","FGFR3","KIT","MNX1","MSH3","NSD1","PDE11A","PRKAR1A","SETBP1","SETD2","STK11"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BRANCHIAL_ANOMALY":{"collection":"C5:HPO","systematicName":"M37425","pmid":"","exactSource":"HP:0009794","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009794","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BRANCHIAL_ANOMALY","geneSymbols":["BCR","CRKL","EYA1","HNRNPK","KMT2D","MAPK1","POLR1B","POLR1C","POLR1D","PUF60","RPL10","SF3B2","SIN3A","SIX1","SIX5","TCOF1","TFAP2A","WAC"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BRANCHIAL_FISTULA":{"collection":"C5:HPO","systematicName":"M37426","pmid":"","exactSource":"HP:0009795","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009795","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BRANCHIAL_FISTULA","geneSymbols":["BCR","CRKL","EYA1","MAPK1","POLR1B","POLR1C","POLR1D","SIN3A","SIX1","TCOF1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BRANCHIAL_CYST":{"collection":"C5:HPO","systematicName":"M37427","pmid":"","exactSource":"HP:0009796","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009796","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BRANCHIAL_CYST","geneSymbols":["EYA1","KMT2D","PUF60","RPL10","SIX1","SIX5"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CHOLESTEATOMA":{"collection":"C5:HPO","systematicName":"M47146","pmid":"","exactSource":"HP:0009797","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009797","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHOLESTEATOMA","geneSymbols":["APC2","COG1","DDR2","EYA1","FOCAD","NFIX","NKX2-1","NSD1","SETD2","SIX1","SYK"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_EUTHYROID_GOITER":{"collection":"C5:HPO","systematicName":"M46161","pmid":"","exactSource":"HP:0009798","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009798","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EUTHYROID_GOITER","geneSymbols":["DICER1","EYA1","PDE11A","PRKAR1A","SIX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SUPERNUMERARY_SPLEENS":{"collection":"C5:HPO","systematicName":"M37428","pmid":"","exactSource":"HP:0009799","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009799","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUPERNUMERARY_SPLEENS","geneSymbols":["ACVR2B","ATP6AP1","B9D1","B9D2","CC2D2A","CCDC103","CCDC39","CCDC40","CCDC65","CCNO","CDON","CENPF","CEP290","CFAP221","CFAP298","CFAP300","CFAP45","CFAP74","CFC1","CPLX1","CREBBP","CSPP1","CTBP1","DNAAF1","DNAAF11","DNAAF2","DNAAF3","DNAAF4","DNAAF5","DNAAF6","DNAH1","DNAH11","DNAH5","DNAH9","DNAI1","DNAI2","DNAJB13","DNAL1","DRC1","EP300","ESCO2","EXOC2","FGFRL1","FOXJ1","GAS2L2","GAS8","GDF1","GPC3","GPC4","HYDIN","HYLS1","LETM1","LRRC56","LTBP4","MCIDAS","MEGF8","MKS1","MMP21","MYCN","MYRF","NEK10","NME5","NME8","NPHP3","NSD2","ODAD1","ODAD2","ODAD3","ODAD4","OFD1","PPP2R3C","PRIM1","RAB23","RFWD3","RPGR","RPGRIP1","RPGRIP1L","RSPH1","RSPH3","RSPH4A","RSPH9","SPAG1","SPEF2","STK36","TCTN1","TCTN2","TCTN3","TMEM107","TMEM216","TMEM231","TMEM237","TMEM67","TTC12","TXNDC15","WDR35","WT1","YARS1","ZIC3","ZMYND10"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NEPHROGENIC_DIABETES_INSIPIDUS":{"collection":"C5:HPO","systematicName":"M37431","pmid":"","exactSource":"HP:0009806","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009806","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEPHROGENIC_DIABETES_INSIPIDUS","geneSymbols":["AQP2","ARL6","AVPR2","BBS1","CCDC28B","CRLS1","VIPAS39","VPS33B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_UPPER_LIMB_METAPHYSIS_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M37432","pmid":"","exactSource":"HP:0009809","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009809","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_UPPER_LIMB_METAPHYSIS_MORPHOLOGY","geneSymbols":["ANAPC1","COL10A1","COL2A1","COMP","EZH2","GNAS","MAGEL2","MMP13","MMP9","NDN","PHEX","RECQL4","RPL13","SNRPN","STX16","TRAPPC2","TRPV4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_UPPER_LIMB_JOINT":{"collection":"C5:HPO","systematicName":"M37433","pmid":"","exactSource":"HP:0009810","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009810","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_UPPER_LIMB_JOINT","geneSymbols":["ABCC6","ABCC9","ACTA1","ACTG2","ADAMTS3","ADAMTSL2","ADAT3","ADGRG6","AEBP1","AFF3","AIFM1","AKT1","ALDH18A1","ALG12","ALG3","ALX1","ALX3","AMER1","ANAPC1","ANKRD55","ANO5","ANTXR2","APC","APC2","ARID1B","ARPC4","ASAH1","ASPH","ASXL1","ASXL3","ATP7A","ATR","AUTS2","B3GALT6","B3GAT3","B3GLCT","B4GALT7","BANF1","BAZ1B","BCL7B","BCOR","BCR","BGN","BHLHA9","BICRA","BMP1","BMPR1B","BPNT2","BPTF","BRAF","BRD4","BUD23","CADM3","CANT1","CAPN3","CASZ1","CAV1","CBFB","CBL","CCBE1","CCDC22","CCDC8","CCN2","CCN6","CCR6","CD247","CD96","CDC45","CDC6","CDH3","CDT1","CHRNG","CHST3","CHSY1","CLCF1","CLCN3","CLCN5","CLIP2","CNTN1","COG4","COG5","COL11A1","COL11A2","COL12A1","COL1A1","COL25A1","COL27A1","COL2A1","COL5A1","COL5A2","COL6A1","COL6A2","COL6A3","COL7A1","COL9A1","COL9A2","COL9A3","COLEC10","COLEC11","COLQ","COMP","CPLX1","CPT2","CREBBP","CRKL","CRLF1","CSGALNACT1","CTBP1","CTCF","CTDP1","CUL4B","CUL7","CYP26B1","CYP27A1","CYP27B1","CYP2R1","DDR2","DHCR24","DHODH","DHX16","DLK1","DLL3","DMD","DMP1","DNAJC30","DOK7","DONSON","DVL1","DVL3","DYM","DYNC2LI1","DYRK1A","DYSF","EBP","ECE1","ECEL1","EED","EFNB1","EIF2AK3","EIF4A3","EIF4H","ELN","EMD","EMG1","ENPP1","EP300","ERCC1","ERCC2","ERCC5","ERCC6","ERGIC1","ERLIN2","ESCO2","EVC","EVC2","EXOC6B","EXT1","EXT2","EXTL3","EZH2","FAT4","FBLN1","FBN1","FBN2","FBXO28","FBXW11","FDFT1","FERMT1","FGD1","FGF16","FGF9","FGFR1","FGFR2","FGFR3","FGFRL1","FHL1","FKBP10","FKBP6","FKTN","FLNA","FLNB","FLVCR1","FZD2","GABRD","GALNS","GDAP1","GDF5","GHR","GJA1","GJB2","GLB1","GLDN","GLE1","GLI1","GLI3","GMNN","GNB1","GNB2","GNE","GNPTAB","GNS","GON7","GPC3","GPC4","GPC6","GPKOW","GRB10","GSC","GTF2I","GTF2IRD1","GTF2IRD2","H4C9","HACD1","HDAC8","HEATR3","HEPHL1","HES7","HINT1","HK1","HLA-DRB1","HNRNPA1","HNRNPH1","HOXA11","HOXA13","HOXD13","HRAS","HS2ST1","HSPB1","HSPG2","IDH1","IDS","IDUA","IFITM5","IGHMBP2","IHH","IKBKG","IL2RA","IL2RB","IL6ST","INF2","IPO8","IRF5","ITCH","ITGA7","JAG2","JARID2","KAT6B","KCNAB2","KCNK9","KDM5B","KDM5C","KIAA0319L","KIDINS220","KIF21A","KIF22","KIF5A","KMT2A","KMT2B","KRAS","KRT1","KRT14","KRT16","KRT9","KY","L1CAM","LAGE3","LAMA2","LAMB2","LAMB3","LARGE1","LARS2","LBR","LEMD3","LETM1","LFNG","LGI4","LIFR","LIMK1","LMBR1","LMBRD2","LMNA","LMX1B","LONP1","LRP4","LTBP3","LUZP1","LZTR1","MACROH2A1","MAF","MAFB","MAP2K1","MAP2K2","MAP3K20","MAP3K7","MAPK1","MASP1","MATN3","MBTPS1","MBTPS2","MECOM","MECP2","MED12","MED25","MEG3","MEGF10","MESP2","MET","METTL27","MKS1","MLXIPL","MMP13","MMP14","MMP2","MMP23B","MORC2","MRAS","MUSK","MYBPC1","MYH3","MYL1","MYL11","MYL2","MYOD1","MYOT","NAA10","NALCN","NANS","NCF1","NDRG1","NEDD4L","NEFL","NF1","NIN","NIPBL","NLRP3","NOD2","NOG","NONO","NOTCH2","NPR2","NRAS","NSD1","NSD2","NUP107","NUP133","NUP88","NXN","OBSL1","OCRL","OPA3","ORC1","ORC4","ORC6","OSGEP","P4HTM","PAX3","PCNT","PDE4D","PDGFRB","PDPN","PDXK","PEX1","PEX2","PEX5","PEX6","PHGDH","PI4KA","PIEZO2","PIGA","PIGL","PIGV","PIGY","PIK3C2A","PITX1","PLEKHG5","PLOD1","PLOD2","PLOD3","PMP22","POLR3A","POLR3GL","POP1","POR","PORCN","PPP1CB","PPP2R3C","PQBP1","PRDM16","PRG4","PRKACA","PRKACB","PRKAR1A","PRKCZ","PRMT7","PSMB8","PSMD12","PSTPIP1","PTDSS1","PTEN","PTH1R","PTPN11","PTPN2","PTPN22","PTRH2","PYCR1","PYROXD1","RAB23","RAB33B","RAB3GAP1","RAC3","RAD21","RAF1","RAPSN","RASA2","RBM8A","RECQL4","RERE","RFC2","RIPPLY2","RIT1","RMRP","RNU4ATAC","ROR2","RPL10","RPL26","RRAS","RRAS2","RSPO2","RSPRY1","RTL1","RTTN","SALL4","SCARF2","SCN4A","SCYL2","SELENON","SETBP1","SETD2","SF3B4","SFRP4","SH3PXD2B","SHH","SHOC2","SHOX","SIGMAR1","SIK3","SIL1","SIN3A","SKI","SLC10A7","SLC18A3","SLC25A46","SLC26A2","SLC29A3","SLC34A2","SLC34A3","SLC35A2","SLC35A3","SLC35B2","SLC35D1","SLC39A13","SLC39A8","SLC6A9","SMAD3","SMAD6","SMARCAD1","SMC1A","SMC3","SMG9","SMOC1","SNRPB","SOS1","SOS2","SOX9","SPEN","SPG11","SPRED2","SPRTN","SRCAP","SRY","STAG1","STAT4","STX1A","STXBP1","SUZ12","SVIL","SYNE1","SYNE2","SYT2","TBC1D2B","TBL2","TBR1","TBX15","TBX2","TBX22","TBX3","TBX5","TCF12","TCTN3","TDO2","TFAP2A","TFAP2B","TFE3","TGDS","TGFB3","TGFBR1","TGFBR2","TLK2","TMEM218","TMEM222","TMEM270","TMEM43","TMEM70","TNNI2","TNNT1","TNNT3","TONSL","TOR1A","TOR1AIP1","TP53RK","TP63","TPM2","TPM3","TPRKB","TRAPPC2","TRIP11","TRPS1","TRPV4","TUBA1A","TUBB3","TWIST1","TWIST2","UBA1","UBE4B","UFSP2","UNC80","UPF3B","UROS","VDR","VPS13B","VPS37D","WDR11","WDR4","WDR73","WNT4","WNT5A","WNT7A","XRCC2","XYLT1","YRDC","ZDHHC9","ZIC1","ZMPSTE24","ZNF407"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_ELBOW":{"collection":"C5:HPO","systematicName":"M37434","pmid":"","exactSource":"HP:0009811","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009811","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_ELBOW","geneSymbols":["ABCC6","ABCC9","ACTA1","AEBP1","AFF3","ALDH18A1","ANO5","APC","ARID1B","ASAH1","ASPH","ASXL1","ATP7A","ATR","B3GALT6","B3GAT3","B3GLCT","B4GALT7","BANF1","BCOR","BGN","BMP1","BPNT2","BPTF","BRAF","BRD4","CANT1","CAPN3","CBL","CCDC8","CCN6","CD96","CDC45","CDC6","CDT1","CHRNG","CHST3","CLCF1","CLCN3","COL12A1","COL1A1","COL25A1","COL27A1","COL2A1","COL5A1","COL5A2","COL6A1","COL6A2","COL6A3","COL7A1","COL9A1","COL9A2","COL9A3","COLEC10","COLEC11","COMP","CPT2","CREBBP","CRLF1","CSGALNACT1","CUL4B","CUL7","CYP26B1","CYP27A1","DDR2","DMD","DONSON","DVL1","DVL3","DYM","DYNC2LI1","DYSF","ECEL1","EMD","ENPP1","EP300","ERCC1","ERCC6","ERGIC1","ERLIN2","ESCO2","EVC","EVC2","EXOC6B","EXTL3","EZH2","FBN1","FBN2","FBXO28","FDFT1","FGF9","FGFR1","FGFR2","FGFR3","FHL1","FKBP10","FLNA","FLNB","FZD2","GALNS","GDF5","GHR","GJA1","GJB2","GLDN","GLE1","GLI1","GMNN","GNB1","GNB2","GNS","GPC6","GRB10","GSC","HACD1","HDAC8","HEATR3","HEPHL1","HNRNPH1","HOXA11","HRAS","HS2ST1","HSPG2","IDUA","IFITM5","IL6ST","ITCH","ITGA7","JAG2","KCNK9","KDM5C","KIF22","KMT2A","KRAS","KY","L1CAM","LAMA2","LARGE1","LARS2","LBR","LGI4","LIFR","LMBRD2","LMNA","LMX1B","LRP4","LTBP3","LZTR1","MACROH2A1","MAFB","MAP2K1","MAP2K2","MAP3K20","MAP3K7","MAPK1","MASP1","MATN3","MECOM","MED12","MET","MMP13","MUSK","MYH3","MYL1","MYL11","MYL2","MYOT","NALCN","NF1","NIPBL","NOG","NOTCH2","NPR2","NUP107","NXN","OBSL1","OPA3","ORC1","ORC4","ORC6","P4HTM","PCNT","PEX1","PEX2","PEX5","PIGA","PIGY","PIK3C2A","PITX1","PLOD1","PLOD2","PLOD3","POP1","POR","PPP1CB","PPP2R3C","PRG4","PRKACA","PRKACB","PRKAR1A","PRMT7","PSMB8","PSMD12","PSTPIP1","PTDSS1","PTH1R","PTPN11","PYCR1","RAB33B","RAD21","RAF1","RECQL4","RMRP","RNU4ATAC","ROR2","RSPO2","RSPRY1","SALL4","SCARF2","SCN4A","SCYL2","SELENON","SF3B4","SFRP4","SHOC2","SHOX","SIL1","SKI","SLC25A46","SLC26A2","SLC29A3","SLC35B2","SLC39A13","SLC39A8","SLC6A9","SMAD6","SMC1A","SMC3","SMOC1","SNRPB","SOS1","SOX9","SPRED2","SPRTN","SRCAP","SRY","STAG1","STXBP1","SVIL","SYNE1","SYNE2","SYT2","TBX15","TBX3","TBX5","TDO2","TFAP2A","TFE3","TMEM222","TMEM43","TONSL","TOR1A","TPM2","TPM3","TRAPPC2","TRPV4","TUBB3","UBA1","UNC80","VPS13B","WDR11","WNT4","WNT5A","WNT7A","XYLT1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APLASIA_HYPOPLASIA_OF_THE_EXTREMITIES":{"collection":"C5:HPO","systematicName":"M37435","pmid":"","exactSource":"HP:0009815","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009815","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_EXTREMITIES","geneSymbols":["ABCA12","ABCC9","ACAN","ACP5","ACTB","ACTL6B","ACVR1","ADA","ADA2","ADAMTS10","ADAMTS2","ADAMTSL2","ADNP","AFF3","AFF4","AGPS","AIFM1","ALDH18A1","ALG12","ALG13","ALG6","ALG9","ALMS1","ALOX12B","ALOXE3","ALPL","AMER1","AMMECR1","ANAPC1","ANKRD11","ANTXR2","AP1G1","APC","ARCN1","ARHGAP31","ARID1A","ARID1B","ARID2","ARL6","ARL6IP6","ARSL","ARX","ASAH1","ASPH","ASXL1","ASXL2","ATP6V1B2","ATP7A","ATR","B2M","B3GALT6","B3GAT3","B3GLCT","B9D1","BBS1","BCOR","BCR","BGN","BHLHA9","BICRA","BMP2","BMP4","BMPR1B","BPNT2","BPTF","BRCA1","BRCA2","BRD4","BRF1","BRIP1","BTRC","C12orf57","CACNA2D1","CAMK2A","CAMK2G","CAMTA1","CANT1","CASK","CASZ1","CBFB","CCBE1","CCDC22","CCDC28B","CCDC47","CCDC8","CCN6","CCNQ","CD96","CDC42BPB","CDC45","CDC6","CDH11","CDK10","CDKL5","CDKN1C","CDT1","CENPE","CEP120","CEP152","CEP57","CERT1","CFAP410","CHD4","CHD7","CHN1","CHRNA1","CHRND","CHRNG","CHST11","CHST3","CHSY1","CHUK","CILK1","CLCN7","CLPB","CLTCL1","CNOT2","CNOT3","COG1","COG4","COL10A1","COL11A1","COL11A2","COL1A1","COL1A2","COL25A1","COL2A1","COL3A1","COL9A1","COL9A2","COL9A3","COMP","COX4I1","CPLANE1","CPLX1","CREB3L1","CREBBP","CRIPT","CRKL","CRLF1","CRTAP","CSGALNACT1","CSPP1","CTBP1","CTC1","CTNND2","CTSK","CUL3","CUL4B","CUL7","CWC27","DACT1","DCHS1","DCLRE1C","DDR2","DDRGK1","DHCR24","DHCR7","DHODH","DLK1","DLL4","DLX5","DLX6","DMXL2","DNMT3A","DOCK6","DONSON","DPF2","DPH1","DPH2","DPM1","DPYD","DVL1","DVL3","DYM","DYNC1H1","DYNC2H1","DYNC2I1","DYNC2I2","DYNC2LI1","DYRK1A","EBP","EDA","EDA2R","EFNB1","EIF2AK3","EIF4A3","EN1","EOGT","EP300","EPS15L1","ERCC4","ESCO2","EVC","EVC2","EXOC6B","EXT1","EXT2","EXTL3","EZH2","FAM20C","FAM50A","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FAT4","FBN1","FBXL3","FBXL4","FBXO11","FBXO28","FBXW4","FERMT1","FGD1","FGF10","FGF16","FGF9","FGFR1","FGFR2","FGFR3","FGFRL1","FIG4","FKBP10","FLI1","FLNA","FLNB","FMR1","FN1","FRAS1","FTSJ1","FUT8","FZD2","GABBR2","GABRD","GAD1","GALNT2","GATA1","GDF5","GGCX","GHR","GJA1","GJA5","GJA8","GJB2","GJB6","GLB1","GLI1","GLI3","GLUL","GMNN","GNA11","GNAO1","GNAS","GNAS-AS1","GNB2","GNPAT","GNPTAB","GPC3","GPC4","GPC6","GPX4","GRIN1","GRIP1","GRM7","GSC","H4C3","HBA1","HBA2","HDAC4","HDAC6","HDAC8","HEATR3","HEPHL1","HERC2","HESX1","HHAT","HINT1","HMGA2","HNRNPR","HOXA13","HOXD13","HPGD","HRAS","HSPG2","HTT","HUWE1","HYLS1","IDH1","IDH2","IDUA","IFNGR1","IFT122","IFT140","IFT172","IFT43","IFT52","IFT57","IFT80","IFT81","IGF1R","IGF2","IHH","IKBKG","IL2RG","IL6ST","IL7R","INPP5K","INPPL1","INTU","IQCE","IRX5","JAG1","KAT6A","KAT6B","KCNA1","KCNAB2","KCNH1","KCNJ2","KCNJ5","KCNJ8","KCNN3","KDM1A","KDM4B","KDM5C","KDM6A","KIAA0586","KIAA0753","KIF15","KIF21A","KIF22","KIF5C","KIF7","KIFBP","KLHL15","KMT2A","KMT2D","KNSTRN","KRAS","KYNU","LAMA5","LAS1L","LBR","LETM1","LHX3","LHX4","LIFR","LIG4","LMBR1","LMNA","LMNB2","LMX1B","LONP1","LRP4","LTBP2","LTBP3","LUZP1","LZTFL1","MAB21L2","MACROH2A1","MAD2L2","MAFB","MAGEL2","MAP3K20","MAP3K7","MAPK1","MAPK8IP3","MAPRE2","MASP1","MATN3","MBD5","MBTPS1","MBTPS2","MCTP2","MECOM","MECP2","MED12","MEG3","MEGF8","MEIS2","MET","MGP","MIA3","MIR140","MIR17HG","MKRN3","MMP13","MMP23B","MMP9","MRPS28","MSL3","MTFMT","MTHFS","MTOR","MTX2","MYCN","MYH3","MYSM1","NALCN","NANS","NBAS","NDN","NEK1","NELFA","NEPRO","NEUROD2","NFIX","NGLY1","NHS","NIN","NIPBL","NKX2-6","NOG","NOTCH1","NOTCH2","NPAP1","NPR2","NSD2","NSDHL","NSUN2","NTNG1","NXN","OBSL1","OCA2","OFD1","ORC1","ORC4","ORC6","P3H1","PALB2","PAM16","PAPSS2","PCGF2","PCNT","PCYT1A","PDE3A","PDE4D","PDGFRB","PDHA1","PDPN","PEX5","PEX7","PGAP2","PGAP3","PHF6","PHGDH","PHOX2A","PHYH","PIGB","PIGF","PIGG","PIGL","PIGN","PIGO","PIGP","PIGQ","PIGS","PIGT","PIGV","PIGW","PIGY","PIK3C2A","PIK3CD","PIK3R1","PITX1","PKDCC","PLAG1","PLCB3","PLXND1","PNKP","POC1A","POLA1","POLE","POLR3A","POP1","POR","PORCN","POU1F1","PPIB","PPM1D","PPP2R3C","PRDM16","PRG4","PRIM1","PRKACA","PRKACB","PRKAR1A","PRKCZ","PRKG2","PRMT7","PROP1","PSMD12","PTCH1","PTDSS1","PTH1R","PTHLH","PUF60","PUM1","PWAR1","PWRN1","RAB23","RAB33B","RAB3GAP2","RAC1","RAD21","RAD51","RAD51C","RAG1","RAG2","RAI1","RB1","RBBP8","RBM10","RBM8A","RBPJ","RECQL4","RERE","REV3L","RFWD3","RIPK4","RMRP","RNF2","RNU4ATAC","ROBO1","ROR2","RPL10","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS6KA3","RPS7","RSPO2","RSPRY1","RTL1","RUNX2","RYR3","SALL1","SALL4","SATB1","SATB2","SCARF2","SCN1B","SCN2A","SCUBE3","SEM1","SEMA5A","SERPINH1","SETBP1","SF3B4","SH3PXD2B","SHH","SHOX","SIK1","SIK3","SIL1","SIM1","SIN3A","SKI","SLC10A7","SLC25A22","SLC25A24","SLC26A2","SLC31A1","SLC32A1","SLC35A2","SLC35C1","SLC35D1","SLC39A13","SLC39A8","SLC6A17","SLCO2A1","SLX4","SMAD4","SMARCA2","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SMC1A","SMC3","SMO","SMOC1","SNIP1","SNORD115-1","SNORD116-1","SNRPB","SNRPN","SON","SOX11","SOX4","SOX9","SPART","SPECC1L","SPEN","SRCAP","SRY","STAMBP","STX16","STXBP1","SUCLG1","SVBP","TAPT1","TBC1D24","TBCE","TBCK","TBL1XR1","TBX15","TBX22","TBX3","TBX4","TBX5","TCF4","TCTN3","TELO2","TFAP2A","TFAP2B","TGDS","TGFB1","TMEM53","TMEM67","TNFRSF11A","TNFRSF11B","TNNI2","TNNT3","TONSL","TP63","TPM2","TPR","TRAF3IP1","TRAPPC2","TRIM8","TRIO","TRIP11","TRPM3","TRPS1","TRPV4","TRPV6","TRRAP","TSR2","TTC21B","TUBA1A","TUBB2B","TUBB3","TWIST1","TWIST2","UBE2A","UBE2T","UBE4B","UBR7","UNC80","USP7","USP9X","VAC14","VPS13B","VPS35L","WAC","WASF1","WDR19","WDR35","WDR81","WIPI2","WLS","WNT10B","WNT3","WNT5A","WNT7A","WRN","XRCC2","XRCC4","XYLT1","YY1AP1","ZBTB20","ZIC3","ZMIZ1","ZMPSTE24","ZMYM2","ZNF407","ZNF699","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LOWER_LIMB_UNDERGROWTH":{"collection":"C5:HPO","systematicName":"M37436","pmid":"","exactSource":"HP:0009816","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009816","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOWER_LIMB_UNDERGROWTH","geneSymbols":["ADNP","ALPL","ARL6IP6","CHUK","COL2A1","EXT1","EXT2","FN1","GNA11","LAMA5","MMP13","NOG","PAPSS2","PPIB","SHOX","SLC26A2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APLASIA_INVOLVING_BONES_OF_THE_LOWER_LIMBS":{"collection":"C5:HPO","systematicName":"M37437","pmid":"","exactSource":"HP:0009817","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009817","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_INVOLVING_BONES_OF_THE_LOWER_LIMBS","geneSymbols":["ATP7A","BMPR1B","CHD7","DYNC2H1","EOGT","FIG4","GDF5","GLI3","KCNN3","LMBR1","LMNA","PITX1","VAC14"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APLASIA_INVOLVING_BONES_OF_THE_UPPER_LIMBS":{"collection":"C5:HPO","systematicName":"M47147","pmid":"","exactSource":"HP:0009823","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009823","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_INVOLVING_BONES_OF_THE_UPPER_LIMBS","geneSymbols":["ATP6V1B2","BMPR1B","FANCD2","FGFR2","FIG4","GJA1","IFT140","LMBR1","LMNA","MEGF8","NSDHL","SHH","TRIO","VAC14","XRCC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_UPPER_LIMB_UNDERGROWTH":{"collection":"C5:HPO","systematicName":"M37438","pmid":"","exactSource":"HP:0009824","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009824","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UPPER_LIMB_UNDERGROWTH","geneSymbols":["AFF4","ALG12","APC","ATR","B2M","BMPR1B","BPTF","BRCA1","BRCA2","BRIP1","CCDC8","CCNQ","CHD7","CHN1","CHST3","CHUK","COL2A1","CUL7","DHODH","DLK1","DONSON","DPM1","DYNC2H1","EIF4A3","ERCC4","ESCO2","EXOC6B","EXT1","EXT2","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FGF10","FGFR2","FGFR3","FN1","GDF5","GSC","HYLS1","IFT81","IHH","JAG1","LBR","LRP4","MAD2L2","MAFB","MEG3","NIPBL","NOG","NPR2","OBSL1","PALB2","PDE4D","PIGT","PRKAR1A","PSMD12","RAD51","RAD51C","RBM10","RBM8A","RECQL4","RFWD3","ROR2","RPL26","RPS19","RTL1","SALL4","SCARF2","SF3B4","SHOX","SLC26A2","SLX4","TBX3","TBX5","TRIP11","UBE2T","VPS35L","WNT7A","XRCC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APLASIA_INVOLVING_BONES_OF_THE_EXTREMITIES":{"collection":"C5:HPO","systematicName":"M37439","pmid":"","exactSource":"HP:0009825","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009825","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_INVOLVING_BONES_OF_THE_EXTREMITIES","geneSymbols":["ATP6V1B2","ATP7A","BMPR1B","CHD7","DYNC2H1","EOGT","FANCD2","FGFR2","FIG4","GDF5","GJA1","GLI3","IFT140","KCNN3","LMBR1","LMNA","MEGF8","NSDHL","PITX1","SHH","TRIO","VAC14","XRCC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LIMB_UNDERGROWTH":{"collection":"C5:HPO","systematicName":"M37440","pmid":"","exactSource":"HP:0009826","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009826","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIMB_UNDERGROWTH","geneSymbols":["ACAN","ACP5","ACTB","ADAMTS2","ADNP","AFF3","AFF4","AGPS","ALG12","ALG9","ALPL","ANTXR2","APC","ARCN1","ARL6IP6","ASXL1","ATR","B2M","B3GAT3","B3GLCT","B9D1","BMPR1B","BPNT2","BPTF","BRCA1","BRCA2","BRD4","BRIP1","CCDC8","CCNQ","CD96","CDKN1C","CEP120","CEP57","CFAP410","CHD7","CHN1","CHST3","CHUK","CILK1","CLPB","CLTCL1","COG1","COL10A1","COL11A1","COL11A2","COL1A1","COL1A2","COL2A1","COL9A1","COL9A2","COL9A3","COMP","CREB3L1","CRTAP","CSGALNACT1","CSPP1","CTSK","CUL7","DDR2","DDRGK1","DHCR24","DHCR7","DHODH","DLK1","DONSON","DPM1","DPYD","DVL1","DVL3","DYM","DYNC2H1","DYNC2I1","DYNC2I2","DYNC2LI1","EBP","EFNB1","EIF4A3","ERCC4","ESCO2","EVC","EVC2","EXOC6B","EXT1","EXT2","EXTL3","FAM20C","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FGF10","FGFR1","FGFR2","FGFR3","FLNA","FLNB","FN1","FUT8","FZD2","GAD1","GDF5","GHR","GLB1","GLI1","GLI3","GLUL","GNA11","GNAS","GNPAT","GPC6","GPX4","GSC","HDAC6","HDAC8","HHAT","HRAS","HSPG2","HYLS1","IDH1","IDH2","IFT122","IFT140","IFT172","IFT43","IFT52","IFT80","IFT81","IHH","IL6ST","INPPL1","JAG1","KIAA0586","KIAA0753","KIF15","KIF7","KMT2A","KYNU","LAMA5","LBR","LIFR","LONP1","LRP4","LTBP3","MAB21L2","MAD2L2","MAFB","MATN3","MBTPS2","MEG3","MMP13","MMP9","MTOR","MYSM1","NBAS","NEK1","NGLY1","NIN","NIPBL","NOG","NPR2","NXN","OBSL1","PALB2","PAM16","PAPSS2","PCNT","PCYT1A","PDE4D","PDHA1","PEX7","PHGDH","PIGT","PIGY","PKDCC","PLCB3","POC1A","POLE","PPIB","PRKACA","PRKACB","PRKAR1A","PRKG2","PSMD12","PTH1R","PUF60","RAC1","RAD21","RAD51","RAD51C","RBM10","RBM8A","RECQL4","RFWD3","RIPK4","RMRP","RNU4ATAC","ROR2","RPL26","RPS19","RTL1","SALL4","SCARF2","SERPINH1","SF3B4","SHOX","SIK3","SLC26A2","SLC35C1","SLC35D1","SLC39A8","SLX4","SMC1A","SMC3","SMO","TAPT1","TBCK","TBX15","TBX3","TBX5","TCTN3","TONSL","TRIP11","TRPV4","TTC21B","UBE2T","VPS35L","WDR19","WDR35","WNT5A","WNT7A","XRCC2","XRCC4","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PHOCOMELIA":{"collection":"C5:HPO","systematicName":"M37441","pmid":"","exactSource":"HP:0009829","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009829","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PHOCOMELIA","geneSymbols":["ESCO2","LBR","LMBR1","NIPBL","RBM8A","SF3B4","TBX5","WNT7A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PERIPHERAL_NEUROPATHY":{"collection":"C5:HPO","systematicName":"M37442","pmid":"","exactSource":"HP:0009830","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009830","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERIPHERAL_NEUROPATHY","geneSymbols":["AAAS","AARS1","ABCA1","ABCC8","ABCD1","ABHD12","ACER3","ACO2","ACOX1","ADA2","ADAR","ADAT3","AFG3L2","AGRN","AGTPBP1","AGXT","AHCY","AIFM1","ALAD","ALDH18A1","ALDH4A1","ALS2","AMACR","AMPD2","AP1B1","AP1S1","AP5Z1","APOA1","APTX","AR","ARL6IP1","ARSA","ARSB","ARSI","ASCC1","ATAD3A","ATL1","ATL3","ATP11A","ATP13A2","ATP1A1","ATP1A3","ATP5F1A","ATP5F1D","ATP5F1E","ATP5MK","ATP6V1B2","ATP7B","ATPAF1","ATPAF2","ATXN1","ATXN10","ATXN3","ATXN8OS","B2M","B4GALNT1","BAG3","BIN1","BMP6","BRAF","BRD4","BSCL2","BTNL2","C19orf12","CA2","CACNA1A","CADM3","CAPN1","CARS1","CCT5","CD28","CD59","CHAT","CISD2","CLCF1","CLCN6","CLP1","COA3","COA7","COA8","COASY","COG8","COL13A1","COMP","COQ7","COX20","COX6A1","CPOX","CPSF3","CRAT","CTDP1","CTLA4","CTSD","CYP27A1","CYP2U1","CYP7B1","DARS2","DCAF8","DDB2","DDHD1","DEAF1","DEGS1","DGUOK","DHH","DHX16","DKK1","DMD","DMXL2","DNAJC3","DNAJC30","DNASE1L3","DNM1L","DNM2","DNMT1","DPM1","DST","DSTYK","DYNC1H1","EDNRB","EGR2","ELOVL4","ELOVL5","ELP1","EMILIN1","ERBB2","ERBB3","ERCC1","ERCC2","ERCC3","ERCC4","ERCC5","ERCC6","ERCC8","ERLIN2","EXOSC3","EXOSC8","EXOSC9","FA2H","FAH","FBLN5","FBN1","FDX2","FGA","FGF14","FLII","FLNC","FLRT1","FMR1","FUCA1","FXN","GALC","GAN","GARS1","GBA2","GBE1","GCDH","GCK","GCLC","GDAP1","GET4","GJB1","GJB2","GJB6","GJC2","GLE1","GMPPA","GNAS","GNB2","GNPTAB","GRM1","GSN","GTF2E2","GTF2H5","HADH","HADHA","HADHB","HARS1","HDAC8","HEXB","HFE","HINT1","HK1","HLA-B","HLA-DPA1","HLA-DPB1","HLA-DQA1","HLA-DQB1","HLA-DRB1","HMBS","HNRNPA1","HNRNPA2B1","HSD17B4","HSD3B7","HSPB1","HSPB3","HSPB8","HYCC1","IARS2","IBA57","IDS","IDUA","IFIH1","IFRD1","IGHMBP2","INF2","INPP5K","INS","INSR","IQSEC2","IRF4","ITPR3","KARS1","KCNJ10","KCNJ11","KCNK9","KIF1A","KIF1B","KIF1C","KIF5A","KLC2","KLHL9","KPNA3","KRAS","KRT14","KRT5","LAMA2","LDB3","LETM1","LIG3","LITAF","LMNA","LRPPRC","LSM11","LYST","LYZ","MAG","MANBA","MARS1","MCM3AP","MFF","MFN2","MGAT2","MICU1","MME","MOGS","MORC2","MPC1","MPLKIP","MPV17","MPZ","MRE11","MT-ATP6","MT-ATP8","MT-CO1","MT-CO2","MT-CO3","MT-CYB","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND4L","MT-ND5","MT-ND6","MT-TE","MT-TF","MT-TH","MT-TK","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TV","MT-TW","MTHFR","MTMR14","MTRFR","MTRR","MYD88","MYF6","MYH14","MYO9A","MYOT","NAGA","NAGLU","NAGS","NARS1","NARS2","NDRG1","NDUFS2","NEFH","NEFL","NEMF","NF1","NF2","NGF","NGLY1","NIPBL","NOTCH2","NOTCH3","NRCAM","OPA1","OSMR","OSTM1","P4HA2","PDE4D","PDK3","PDSS1","PDX1","PDYN","PEX1","PEX10","PEX11B","PEX12","PEX16","PEX5","PEX6","PEX7","PHF6","PHYH","PIEZO2","PIGB","PIK3R5","PLA2G6","PLD3","PLEKHG4","PLOD1","PLP1","PLXNA1","PMM2","PMP22","PMPCA","PNKP","PNPLA6","PNPT1","POLG","POLG2","POLR3A","POLR3B","PPOX","PPP2R2B","PRF1","PRICKLE1","PRKAR1A","PRPS1","PRTN3","PSAP","PSMC3","PTPN22","PTRH2","RAB18","RAB3GAP1","RAB3GAP2","RAB7A","RAD21","RAI1","REEP1","REPS1","RETREG1","RFC1","RMND1","RNASEH1","RNASEH2A","RNASEH2B","RNASEH2C","RNF113A","RNF168","RNF170","RNF220","RNU7-1","RPIA","RRM2B","RYR1","SACS","SAMD9L","SAMHD1","SCN10A","SCN11A","SCN9A","SCO2","SCP2","SCYL1","SELENOI","SEPTIN9","SERPING1","SETX","SGPL1","SH3TC2","SHMT2","SIL1","SLC12A6","SLC18A3","SLC25A1","SLC25A19","SLC25A4","SLC25A46","SLC30A10","SLC46A1","SLC52A2","SLC52A3","SLC5A6","SLC5A7","SMC1A","SMC3","SMPD1","SNAP25","SNAP29","SOX10","SPG11","SPG21","SPG7","SPTBN1","SPTBN4","SPTLC1","SPTLC2","STAT3","STX11","STXBP2","SUCLA2","SURF1","SYNE1","SYT2","TARS1","TBC1D20","TBC1D24","TBCD","TBCE","TDP1","TFG","TGFB1","TGM6","TIMM8A","TIMMDC1","TK2","TMEM70","TMPRSS6","TNFRSF1B","TNXB","TOP3A","TPI1","TRAPPC11","TREX1","TRIM2","TRIP4","TRMT5","TRPV4","TTBK2","TTPA","TTR","TUBB3","TWNK","TXN2","TYMP","UBA1","UCHL1","UNC13D","UQCRC1","VAMP1","VCP","VPS13A","VPS13D","VPS41","VRK1","VWA1","WARS1","WAS","WDR48","WFS1","WIPF1","WNK1","XK","XPA","XPC","XRCC1","XRCC4","ZFR","ZFYVE26"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_DISTAL_PHALANX_MORPHOLOGY_OF_FINGER":{"collection":"C5:HPO","systematicName":"M37443","pmid":"","exactSource":"HP:0009832","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009832","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_DISTAL_PHALANX_MORPHOLOGY_OF_FINGER","geneSymbols":["ABCC9","ACP5","ACTL6B","ALG6","AMMECR1","ARHGAP31","ARID1A","ARID1B","ARSL","ATP6V1B2","B3GALT6","B3GAT3","BANF1","BCR","BGN","BMPR1B","BRF1","CANT1","CBFB","CCDC22","CHST11","CHST3","CHUK","CLCN7","COG4","COL10A1","COL2A1","COMP","CREBBP","CRIPT","CRKL","CTSC","CTSK","CWC27","DDR2","DLK1","DLL4","DOCK6","DSP","DVL1","DYNC2LI1","EDA","EDA2R","EOGT","EP300","EVC","EVC2","EXOSC2","FGFR2","FIG4","FLNA","FLNB","FN1","FTO","FTSJ1","GATAD2B","GDF5","GGCX","GJA5","GJA8","GLI1","GNAS","GPC3","GPC4","HNRNPR","HOXA13","HOXD13","HS2ST1","IARS1","IFT122","IFT43","IFT52","IFT57","IGF2","IHH","JAG1","KCNH1","KCNJ8","KCNN3","KDM5C","KIF22","KIF7","KNSTRN","LBR","LEMD3","LMBR1","LMNA","LRP4","MACROH2A1","MAP3K7","MAPK1","MCTP2","MEG3","MGP","MRPS28","MTOR","NALCN","NFIX","NOG","NOTCH1","NOTCH2","NSDHL","NXN","PAH","PCNT","PDGFRB","PGAP2","PGAP3","PHF6","PIGB","PIGF","PIGL","PIGN","PIGO","PIGS","PIGV","PIGW","PIGY","PIK3CD","PITX1","POC1A","POR","PPP2R3C","PRKACA","PRKACB","PRMT7","PTCH1","PTHLH","RAB3GAP1","RAB3GAP2","RBPJ","RMRP","RNU4ATAC","ROR2","RPS6KA3","RTL1","SALL4","SETBP1","SETD5","SLC25A24","SMARCA2","SMARCB1","SMARCE1","SOST","SOX11","SPTBN1","SRCAP","STAMBP","TBC1D24","TBX3","TFAP2B","TGFBR2","TRPS1","TRPV4","TWIST1","UNC80","VAC14","VPS35L","WDR19","WDR35","WLS","WNT5A","ZBTB20","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_MIDDLE_PHALANX_MORPHOLOGY_OF_THE_HAND":{"collection":"C5:HPO","systematicName":"M37444","pmid":"","exactSource":"HP:0009833","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009833","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MIDDLE_PHALANX_MORPHOLOGY_OF_THE_HAND","geneSymbols":["ATP6V1B2","BHLHA9","BMP2","BMP4","BMPR1B","CEP152","CHSY1","COL10A1","COL2A1","DOCK6","DVL1","EIF2AK3","FGFR1","FGFR2","FGFR3","FIG4","GATA1","GDF5","GJA1","GMNN","GNB2","HOXA13","HOXD13","IFT140","IFT57","IGF2","IHH","INTU","KDM6A","KMT2A","KMT2D","KNSTRN","LMNA","MBD5","MECOM","MEGF8","MIR17HG","MYCN","NEPRO","NFIX","NIN","NOG","NONO","NPR3","NSDHL","PCNT","PDE4D","PHF6","PIK3CD","POLA1","PQBP1","PTDSS1","PTH1R","PUF60","RAB23","RBBP8","ROR2","RUNX2","SLC26A2","SRCAP","TFAP2B","TRPS1","TRPV4","VAC14","WNT5A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_PROXIMAL_PHALANX_MORPHOLOGY_OF_THE_HAND":{"collection":"C5:HPO","systematicName":"M37445","pmid":"","exactSource":"HP:0009834","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009834","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PROXIMAL_PHALANX_MORPHOLOGY_OF_THE_HAND","geneSymbols":["BHLHA9","BMPR1B","CDKL5","CHSY1","COL10A1","COL2A1","CREBBP","EP300","FANCD2","FGFR3","FIG4","FLNB","GDF5","GNAS","IHH","KIF15","KIF22","LMBR1","MTOR","NOG","NPR3","RAB23","ROR2","SHH","TRIO","TRPS1","VAC14","XRCC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APLASIA_HYPOPLASIA_OF_THE_DISTAL_PHALANGES_OF_THE_HAND":{"collection":"C5:HPO","systematicName":"M37446","pmid":"","exactSource":"HP:0009835","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009835","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_DISTAL_PHALANGES_OF_THE_HAND","geneSymbols":["ABCC9","ACP5","ACTL6B","ALG6","ARHGAP31","ARID1A","ARID1B","ARSL","ATP6V1B2","BCR","BMPR1B","BRF1","CBFB","CCDC22","CHST11","CHST3","CHUK","CLCN7","COG4","COL10A1","COL2A1","COMP","CRIPT","CRKL","CWC27","DLL4","DOCK6","DVL1","DYNC2LI1","EDA","EDA2R","EOGT","EVC","EVC2","FIG4","FLNA","FLNB","FN1","FTSJ1","GDF5","GGCX","GJA5","GJA8","GLI1","GNAS","GPC3","GPC4","HNRNPR","HOXA13","HOXD13","IFT122","IFT43","IFT52","IFT57","IGF2","IHH","JAG1","KCNH1","KCNJ8","KCNN3","KDM5C","KNSTRN","LBR","LMNA","MAP3K7","MAPK1","MCTP2","MGP","MTOR","NFIX","NOG","NOTCH1","NOTCH2","NSDHL","NXN","PCNT","PDGFRB","PGAP2","PGAP3","PHF6","PIGB","PIGF","PIGL","PIGN","PIGO","PIGS","PIGV","PIGW","PIGY","PIK3CD","POC1A","POR","PRKACA","PRKACB","PRMT7","PTCH1","PTHLH","RBPJ","ROR2","RPS6KA3","SALL4","SETBP1","SLC25A24","SMARCA2","SMARCB1","SMARCE1","SOX11","STAMBP","TBC1D24","TBX3","TGFBR2","TRPS1","TRPV4","TWIST1","VAC14","VPS35L","WDR19","WDR35","ZBTB20","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BROAD_DISTAL_PHALANX_OF_FINGER":{"collection":"C5:HPO","systematicName":"M37447","pmid":"","exactSource":"HP:0009836","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009836","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BROAD_DISTAL_PHALANX_OF_FINGER","geneSymbols":["AMMECR1","B3GALT6","B3GAT3","BGN","CHST3","CREBBP","DLK1","EP300","EXOSC2","FGFR2","FLNA","FLNB","GATAD2B","GNAS","GPC4","HOXD13","HS2ST1","IFT122","KIF22","MEG3","RNU4ATAC","RTL1","SETD5","SMARCA2","WDR19","WLS"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_OSTEOLYTIC_DEFECTS_OF_THE_DISTAL_PHALANGES_OF_THE_HAND":{"collection":"C5:HPO","systematicName":"M43369","pmid":"","exactSource":"HP:0009839","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009839","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OSTEOLYTIC_DEFECTS_OF_THE_DISTAL_PHALANGES_OF_THE_HAND","geneSymbols":["BANF1","CTSK","LMNA","PDGFRB","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APLASIA_HYPOPLASIA_OF_THE_MIDDLE_PHALANGES_OF_THE_HAND":{"collection":"C5:HPO","systematicName":"M46162","pmid":"","exactSource":"HP:0009843","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009843","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_MIDDLE_PHALANGES_OF_THE_HAND","geneSymbols":["ATP6V1B2","BHLHA9","BMP2","BMP4","BMPR1B","CEP152","COL10A1","COL2A1","DOCK6","DVL1","EIF2AK3","FGFR1","FGFR2","FGFR3","FIG4","GATA1","GDF5","GJA1","GMNN","GNB2","HOXA13","HOXD13","IFT140","IFT57","IGF2","IHH","INTU","KDM6A","KMT2A","KMT2D","LMNA","MBD5","MECOM","MEGF8","MIR17HG","MYCN","NEPRO","NIN","NOG","NSDHL","PCNT","PDE4D","PHF6","POLA1","PTDSS1","PTH1R","PUF60","RAB23","RBBP8","ROR2","RUNX2","SLC26A2","SRCAP","TFAP2B","TRPV4","VAC14","WNT5A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SYMPHALANGISM_OF_MIDDLE_PHALANX_OF_FINGER":{"collection":"C5:HPO","systematicName":"M41379","pmid":"","exactSource":"HP:0009849","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009849","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SYMPHALANGISM_OF_MIDDLE_PHALANX_OF_FINGER","geneSymbols":["BHLHA9","GDF5","NOG","NONO","PQBP1","ROR2","TFAP2B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APLASIA_HYPOPLASIA_OF_THE_PROXIMAL_PHALANGES_OF_THE_HAND":{"collection":"C5:HPO","systematicName":"M37448","pmid":"","exactSource":"HP:0009851","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009851","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_PROXIMAL_PHALANGES_OF_THE_HAND","geneSymbols":["BMPR1B","COL2A1","FANCD2","FGFR3","FIG4","GDF5","IHH","KIF15","LMBR1","MTOR","SHH","TRIO","VAC14","XRCC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SIMPLIFIED_GYRAL_PATTERN":{"collection":"C5:HPO","systematicName":"M37449","pmid":"","exactSource":"HP:0009879","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009879","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SIMPLIFIED_GYRAL_PATTERN","geneSymbols":["AHDC1","ANKLE2","ARID1A","ARID1B","ARID2","ASNS","ASPM","C2CD3","CASK","CDC40","CDK5RAP2","CDK6","CENPE","CEP152","CIT","CLP1","COPB2","CSNK2A1","CUL4B","DCHS1","DONSON","DPF2","DYNC1I2","ERCC1","EXOC7","FKRP","FOXG1","GFM2","GLS","GMNN","IER3IP1","KATNB1","KIF11","KIF14","LIPT2","LMNB1","LMNB2","LRPPRC","MAST1","MED27","MPDZ","NDE1","NDUFA6","NSRP1","OSGEP","PDCD6IP","PLK4","PNKP","PPIL1","PRKDC","PSAT1","QARS1","RNU12","RTTN","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SMPD4","SON","SOX11","SOX4","SPOP","STAMBP","STIL","TMEM222","TRAIP","TRAPPC12","TSEN2","TTC5","TUBB2A","TUBB3","TUBGCP6","VLDLR","WDR62","WWOX","XRCC4","YRDC","ZNF335","ZNF526"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DUPLICATION_OF_THE_DISTAL_PHALANX_OF_HAND":{"collection":"C5:HPO","systematicName":"M37450","pmid":"","exactSource":"HP:0009883","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009883","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DUPLICATION_OF_THE_DISTAL_PHALANX_OF_HAND","geneSymbols":["BMPR1B","CANT1","DVL1","FGFR2","GDF5","KIF7","LEMD3","LMBR1","PAH","PPP2R3C","ROR2","TWIST1","WNT5A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_TAPERED_DISTAL_PHALANGES_OF_FINGER":{"collection":"C5:HPO","systematicName":"M43370","pmid":"","exactSource":"HP:0009884","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009884","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TAPERED_DISTAL_PHALANGES_OF_FINGER","geneSymbols":["CTSC","DSP","NALCN","SPTBN1","UNC80"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_TRICHORRHEXIS_NODOSA":{"collection":"C5:HPO","systematicName":"M37452","pmid":"","exactSource":"HP:0009886","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009886","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TRICHORRHEXIS_NODOSA","geneSymbols":["AARS1","ASL","CLCN6","ERCC2","GJA1","GTF2H5","HEPHL1","KDF1","KRT25","MPLKIP","SKIC2","SKIC3","SPINK5"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_HAIR_PIGMENTATION":{"collection":"C5:HPO","systematicName":"M37453","pmid":"","exactSource":"HP:0009887","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009887","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_HAIR_PIGMENTATION","geneSymbols":["ABCA2","ACD","AP3B1","AP3D1","ATM","ATP10A","ATP7A","BLOC1S3","BLOC1S5","BRCC3","CACNA1F","CHN1","CLCN7","CTC1","CTNS","DCT","DHCR7","DKC1","DPP9","DSTYK","DTNBP1","EDN3","EDNRB","ELN","EPG5","ERCC6","ERCC8","FAS","FDFT1","FGFR3","GJB6","GNPTAB","HERC2","HPS1","HPS3","HPS4","HPS5","HPS6","HRAS","IFT140","INSR","KANSL1","KIT","KITLG","KRT25","KRT71","KRT74","LAMTOR2","LIPH","LMNA","LPAR6","LRMDA","LRPPRC","LYST","MAFB","MAGEL2","MC1R","MDM2","MITF","MKRN3","MLPH","MLXIPL","MOGS","MTAP","MYO5A","NAF1","NDN","NHP2","NOP10","NPAP1","NPM1","OCA2","PADI3","PAH","PARN","PAX3","PCSK1","PDE4D","PEPD","PIGN","POMC","PRDM5","PRKAR1A","PSMB8","PTPN22","PWAR1","PWRN1","RAB27A","RECQL4","RMRP","RPA1","RTEL1","SALL4","SIM1","SKIC2","SKIC3","SLC17A5","SLC24A5","SLC45A2","SLC5A6","SNAI2","SNORD115-1","SNORD116-1","SNRPN","SOX10","SPRTN","STN1","TAFAZZIN","TERC","TERT","TFAP2A","TGM3","TINF2","TMCO1","TP63","TYMS","TYR","TYRP1","UBE3A","UBR1","USB1","WDR45","WRAP53","WRN","ZNF469","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_SECONDARY_SEXUAL_HAIR":{"collection":"C5:HPO","systematicName":"M37454","pmid":"","exactSource":"HP:0009888","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009888","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_SECONDARY_SEXUAL_HAIR","geneSymbols":["ADAMTS3","ANOS1","APCDD1","APOE","AR","AXIN2","AXL","BMP15","BNC1","CCBE1","CCDC141","CDSN","COL17A1","CYB5A","CYP17A1","DHX37","DMRT3","DSC3","DUSP6","EPS8L3","ESR1","FAT4","FEZF1","FGF17","FOXA2","FOXL2","FSHB","FSHR","GATA4","GJB2","GJB6","GLI2","GNRH1","GNRHR","HESX1","HLA-DRA","HR","ITGB4","KCTD1","KRT74","LHB","LHX4","LIPH","LPAR6","LSS","MAP3K1","MDM2","MRPS22","MSH4","NR0B1","NR5A1","NUP107","ORC6","OTX2","POLR3H","POU1F1","PPP2R3C","PROP1","PSMB8","PSMC3IP","RPL21","SEMA3E","SNRPE","SOX3","SOX9","SPIDR","SPRY4","SRA1","SRY","TBX3","TP63","VAMP7","WDR11","WT1","WWOX","ZBTB20","ZFPM2","ZSWIM7"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LOCALIZED_HIRSUTISM":{"collection":"C5:HPO","systematicName":"M37455","pmid":"","exactSource":"HP:0009889","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009889","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOCALIZED_HIRSUTISM","geneSymbols":["AFF4","ARID1B","CKAP2L","CPOX","CREBBP","DLK1","EP300","FLNA","GNS","MEG3","PEPD","PPP1R21","PRMT7","RPL10","RTL1","SLC25A12","TASP1","TBX15","TP63","WASHC4","WNT4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HIGH_ANTERIOR_HAIRLINE":{"collection":"C5:HPO","systematicName":"M37456","pmid":"","exactSource":"HP:0009890","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009890","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HIGH_ANTERIOR_HAIRLINE","geneSymbols":["ADARB1","ADNP","ALX1","ALX3","ANKRD17","ATP6V1B2","BICRA","CCNK","CDH1","CLCN3","CPLX1","CTBP1","CWC27","DEAF1","DHX30","DLX4","DPH2","EFNB1","FAT4","FGD1","FLNA","GDF11","GMPPA","GNB2","H1-4","H4C5","HEATR3","HS2ST1","HYOU1","IFIH1","JARID2","KCNH1","KDM1A","LETM1","LMX1B","LRP2","MED12","MEIS2","MID1","NELFA","NEPRO","NOVA2","NSD1","NSD2","PEX1","PEX6","PIGG","PIGK","PPP1CB","PRKD1","RALGAPA1","RERE","SATB1","SETD2","SIN3A","SLC35C1","SLC9A7","SMO","SOS1","SPECC1L","SPEN","STAG2","STT3A","SYT1","TBL1XR1","THOC6","TWIST1","UGP2","WNT4","ZC4H2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_UNDERDEVELOPED_SUPRAORBITAL_RIDGES":{"collection":"C5:HPO","systematicName":"M37457","pmid":"","exactSource":"HP:0009891","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009891","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UNDERDEVELOPED_SUPRAORBITAL_RIDGES","geneSymbols":["ANTXR1","BRAF","CITED2","ESCO2","FGFR2","FGFR3","FLT4","GATA4","GATA5","GATA6","GDF1","GHR","GJA5","HBA1","HBA2","JAG1","KDR","KIF11","KNSTRN","KRAS","LIG4","LZTR1","MAP2K1","MAP2K2","MASP1","MEGF8","MYOD1","NEU1","NKX2-5","NKX2-6","NSUN2","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PIK3CD","PPP1R21","PRMT7","PTCH1","RAB23","RBM10","SIK3","SKIC3","SLC25A24","SOX11","SPOP","TBX1","TCF12","TRAPPC9","TWIST1","ZFPM2","ZIC1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ANOTIA":{"collection":"C5:HPO","systematicName":"M37458","pmid":"","exactSource":"HP:0009892","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009892","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANOTIA","geneSymbols":["CDC45","CDC6","CDT1","DDX3X","FANCB","FANCL","GMNN","HOXA2","ORC1","ORC4","ORC6","POLR1A","POLR1D","SF3B2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_THICKENED_EARS":{"collection":"C5:HPO","systematicName":"M37459","pmid":"","exactSource":"HP:0009894","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009894","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THICKENED_EARS","geneSymbols":["ABCC8","AFF4","ALMS1","ATP6V1B2","KCNH1","KCNJ11","KCNMA1","KCNN3","NARS2","PIGY","PTCH1","TAF1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_CRUS_OF_THE_HELIX":{"collection":"C5:HPO","systematicName":"M37460","pmid":"","exactSource":"HP:0009895","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009895","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_CRUS_OF_THE_HELIX","geneSymbols":["DHX30","EDN1","FGFR2","FGFR3","GNAI3","HS2ST1","NSD2","PLCB4","STEEP1","TCTN3","TWIST1","ZNF462"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_ANTITRAGUS_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M37461","pmid":"","exactSource":"HP:0009896","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009896","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ANTITRAGUS_MORPHOLOGY","geneSymbols":["B3GAT3","CHST3","COL2A1","FN1","KAT6A","KCTD1","PGM2L1","PIGK","PNPLA6","RAB3GAP2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PROMINENT_CRUS_OF_HELIX":{"collection":"C5:HPO","systematicName":"M43371","pmid":"","exactSource":"HP:0009899","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009899","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROMINENT_CRUS_OF_HELIX","geneSymbols":["DHX30","FGFR2","FGFR3","HS2ST1","NSD2","STEEP1","TWIST1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CRUMPLED_EAR":{"collection":"C5:HPO","systematicName":"M46163","pmid":"","exactSource":"HP:0009901","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009901","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CRUMPLED_EAR","geneSymbols":["FBN1","FBN2","LONP1","MESD","TWIST1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PROMINENT_EAR_HELIX":{"collection":"C5:HPO","systematicName":"M41380","pmid":"","exactSource":"HP:0009904","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009904","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROMINENT_EAR_HELIX","geneSymbols":["ACBD5","AFF2","DOCK7","LMNA","PYCR1","ZMIZ1","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APLASIA_HYPOPLASIA_OF_THE_EARLOBES":{"collection":"C5:HPO","systematicName":"M37462","pmid":"","exactSource":"HP:0009906","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009906","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_EARLOBES","geneSymbols":["ABHD5","AHDC1","ARVCF","ATR","ATRIP","B4GALT7","CDC6","CENPE","CENPJ","CEP152","CHD7","COL2A1","COL3A1","COMT","CREBBP","DNA2","EBF3","EP300","ESCO2","FGFR2","FIG4","FLI1","FN1","GP1BB","HBA1","HBA2","HIRA","HMX1","HNRNPH1","JMJD1C","KAT6A","KCTD1","KMT2B","NUP85","PCNT","PLK4","POLR3A","PTPRF","RBBP8","RBM10","RREB1","SCARF2","SEC24C","SEMA3E","SLC35C1","SMS","TBX1","TRAIP","UFD1","VPS13B","ZMYM2","ZNF407"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ATTACHED_EARLOBE":{"collection":"C5:HPO","systematicName":"M46164","pmid":"","exactSource":"HP:0009907","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009907","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ATTACHED_EARLOBE","geneSymbols":["CDH11","HIVEP2","HS2ST1","NSD2","RDH11","RECQL","SMG9"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ANTERIOR_CREASES_OF_EARLOBE":{"collection":"C5:HPO","systematicName":"M45433","pmid":"","exactSource":"HP:0009908","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009908","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANTERIOR_CREASES_OF_EARLOBE","geneSymbols":["BRAF","GPC3","GPC4","PRR12","TBX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_UPLIFTED_EARLOBE":{"collection":"C5:HPO","systematicName":"M37463","pmid":"","exactSource":"HP:0009909","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009909","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UPLIFTED_EARLOBE","geneSymbols":["AHDC1","BMP4","BUB1","CDC42BPB","EHMT1","GRIA3","HDAC8","IL1RAPL1","KMT2C","LAS1L","MAPRE2","MED25","NR2F1","PIGB","PIGL","PIGQ","SIN3A","SMARCD1","TBL1XR1","TWIST1","ZEB2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_TEMPORAL_BONE_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M37464","pmid":"","exactSource":"HP:0009911","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009911","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_TEMPORAL_BONE_MORPHOLOGY","geneSymbols":["CEP57","FGFR3","GDF3","GDF6","POR"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_TRAGUS_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M37465","pmid":"","exactSource":"HP:0009912","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009912","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_TRAGUS_MORPHOLOGY","geneSymbols":["DACT1","EFTUD2","GLI2","KAT6A","KCTD1","NUP188","PIGN","RNU4ATAC","SALL1","SF3B2","SMCHD1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APLASIA_HYPOPLASIA_OF_THE_TRAGUS":{"collection":"C5:HPO","systematicName":"M41381","pmid":"","exactSource":"HP:0009913","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009913","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_TRAGUS","geneSymbols":["EFTUD2","GLI2","KAT6A","KCTD1","NUP188","SF3B2","SMCHD1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CYCLOPIA":{"collection":"C5:HPO","systematicName":"M37466","pmid":"","exactSource":"HP:0009914","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009914","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CYCLOPIA","geneSymbols":["CDON","DISP1","DLL1","FGF8","FGFR1","FOXH1","GAS1","GLI2","NODAL","OTX2","PLCH1","PRRX1","PTCH1","SHH","SIX3","SMC1A","STAG2","STIL","SUFU","TDGF1","TGIF1","ZIC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ANISOCORIA":{"collection":"C5:HPO","systematicName":"M37467","pmid":"","exactSource":"HP:0009916","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009916","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANISOCORIA","geneSymbols":["AAAS","COL25A1","DDX6","GMPPA","KCTD1","KIF21A","LOXL1","PHOX2A","PMP22","SH3TC2","SIN3A","TMEM67","TUBA1A","TUBB2B","TUBB3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PERSISTENT_PUPILLARY_MEMBRANE":{"collection":"C5:HPO","systematicName":"M37468","pmid":"","exactSource":"HP:0009917","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009917","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERSISTENT_PUPILLARY_MEMBRANE","geneSymbols":["ADAMTSL4","ATOH7","COL18A1","CPAMD8","FZD4","GJA1","HRAS","NDP","POMT2","TRPM3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ECTOPIA_PUPILLAE":{"collection":"C5:HPO","systematicName":"M37469","pmid":"","exactSource":"HP:0009918","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009918","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ECTOPIA_PUPILLAE","geneSymbols":["ADAMTSL4","COL4A1","COL8A2","CPAMD8","CPLX1","CTBP1","FBN1","FGFRL1","FOXC1","GRHL2","LETM1","MAB21L2","NSD2","OVOL2","PAX6","PCYT1A","PITX2","RHOA","TBX2","VSX1","WT1","ZEB1","ZEB2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APLASIA_HYPOPLASIA_INVOLVING_THE_NOSE":{"collection":"C5:HPO","systematicName":"M37470","pmid":"","exactSource":"HP:0009924","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009924","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_INVOLVING_THE_NOSE","geneSymbols":["ALG9","ALX1","ALX4","ANKRD11","ASXL3","ATP6V1B2","BCR","BICRA","BRCA1","CENPJ","CKAP2L","CLP1","COL3A1","CREBBP","CRKL","CTNNB1","CWC27","DDB1","DDR2","DGCR2","DGCR6","DGCR8","DYRK1A","EDA","EDEM3","EDN3","EDNRB","EIF5A","ESCO2","ESS2","EXT2","FGF3","FLNB","FRAS1","FREM2","GHR","GJA1","GMNN","GRIP1","H3-3A","HDAC4","HNRNPH2","HNRNPK","IARS2","KANSL1","KCNJ6","KMT2D","LMBR1","LMNA","MADD","MAPK1","MGP","MITF","MTX2","MVK","MYH3","MYMX","MYO18B","NAA10","NALCN","NEXMIF","NFIX","NOG","NSUN2","OFD1","ORC4","OTX2","PAX3","PCNT","PHF21A","PIK3R1","PLEC","PPP1CB","PPP2R3C","PRPS1","PRRX1","PTCH1","PURA","PYCR1","RDH11","RECQL","RECQL4","RIPK4","RNU4ATAC","RSPO2","SCARF2","SCNM1","SIN3A","SIX3","SLC37A4","SMARCA2","SMCHD1","SOX10","SOX11","SPATA5","SRCAP","STAG2","TAF6","TBX1","TGIF1","TMLHE","TONSL","TP63","TRIO","TRPS1","TWIST1","TWIST2","TXNL4A","UBE2A","UBR1","USB1","USH1G","WNT3","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_EPIPHORA":{"collection":"C5:HPO","systematicName":"M37471","pmid":"","exactSource":"HP:0009926","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009926","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EPIPHORA","geneSymbols":["ATOH7","COL17A1","DKC1","FGF10","FGFR2","FGFR3","FZD4","HLA-DRB1","IGSF3","KRT12","KRT3","LRP1","NDP","NHP2","NLRP3","NOP10","OVOL2","PARN","SDHD","SEMA4A","SLC39A14","SREBF1","TACSTD2","TINF2","TYMS"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_THICK_NASAL_ALAE":{"collection":"C5:HPO","systematicName":"M37472","pmid":"","exactSource":"HP:0009928","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009928","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THICK_NASAL_ALAE","geneSymbols":["ABCA5","AKT1","ANKRD17","ANTXR1","AP2M1","ARID1A","ARID1B","ARID2","ARSL","CCNK","CHD2","DPF2","EXT1","H4C5","KANSL1","KCNH1","MED12","NEXMIF","NF1","PIK3C2A","PTEN","RAD21","RHOA","RPS6KA3","SCN1A","SCNM1","SLC2A1","SLC6A1","SMARCA2","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SOX11","SOX4","SYNGAP1","TRPS1","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_COLUMELLA_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M37473","pmid":"","exactSource":"HP:0009929","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009929","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_COLUMELLA_MORPHOLOGY","geneSymbols":["ACTB","ACTG1","AFF3","AIMP2","ALG9","ALX3","ALX4","ARSL","ASXL3","ATN1","ATP6V1E1","B3GLCT","BICRA","CAPN15","CDC42BPB","CDH11","CENPF","CHST14","CKAP2L","CLCN3","CLP1","CREBBP","CTCF","CTNNB1","CWC27","DNMT3A","EDEM3","EP300","ERF","EXOSC2","FLI1","GJA1","GJA5","GJA8","H3-3B","H4C5","HDAC4","HIVEP2","HNRNPH2","HNRNPR","ITCH","KAT6A","KCNH1","KCTD1","KDM3B","KDM5B","KDM6A","KMT2A","KMT2D","KMT5B","KNL1","LIFR","LMBR1","MADD","MAN2C1","MBD5","MGAT2","NAA10","NALCN","NOG","PCDHGC4","PIK3C2A","POC1A","PPP1R21","PQBP1","RAC1","RDH11","RHOBTB2","RPS6KA3","RYR1","SCNM1","SETD2","SHH","SMARCA2","SMG9","SOX11","SRCAP","TAF6","TBCD","TGDS","THOC6","THUMPD1","TRIO","TRIP12","TSPEAR","TWIST1","UBE2A","ZEB2","ZMIZ1","ZNF148","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ENLARGED_NARIS":{"collection":"C5:HPO","systematicName":"M46165","pmid":"","exactSource":"HP:0009931","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009931","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ENLARGED_NARIS","geneSymbols":["DDR2","MKS1","NAA10","NALCN","NSD1","UNC80"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SINGLE_NARIS":{"collection":"C5:HPO","systematicName":"M37474","pmid":"","exactSource":"HP:0009932","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009932","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SINGLE_NARIS","geneSymbols":["CDON","CSPP1","DISP1","DLL1","FGF8","FGFR1","FOXH1","GAS1","GLI2","NODAL","PLCH1","PTCH1","SHH","SIX3","SMC1A","SMCHD1","STAG2","STIL","TDGF1","TGIF1","WNT3","ZIC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NARROW_NARIS":{"collection":"C5:HPO","systematicName":"M46166","pmid":"","exactSource":"HP:0009933","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009933","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NARROW_NARIS","geneSymbols":["ATP6V1A","ATP6V1E1","ESCO2","KCNJ6","MEGF8","PAX3","PRMT7","TGDS"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APLASIA_HYPOPLASIA_OF_THE_NASAL_SEPTUM":{"collection":"C5:HPO","systematicName":"M37475","pmid":"","exactSource":"HP:0009935","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009935","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_NASAL_SEPTUM","geneSymbols":["FLNB","NOG","PTCH1","SIX3","TGIF1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SUNKEN_CHEEKS":{"collection":"C5:HPO","systematicName":"M43372","pmid":"","exactSource":"HP:0009938","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009938","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUNKEN_CHEEKS","geneSymbols":["AEBP1","CAV1","LRP1","NGLY1","PSMC3","TUBB4A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MANDIBULAR_APLASIA":{"collection":"C5:HPO","systematicName":"M37477","pmid":"","exactSource":"HP:0009939","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009939","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MANDIBULAR_APLASIA","geneSymbols":["CDC45","CDC6","CDT1","COX7B","FAM20C","GMNN","HCCS","NDUFB11","ORC1","ORC4","ORC6","OTX2","PRRX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DUPLICATION_OF_THUMB_PHALANX":{"collection":"C5:HPO","systematicName":"M37478","pmid":"","exactSource":"HP:0009942","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009942","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DUPLICATION_OF_THUMB_PHALANX","geneSymbols":["ACTB","ACTG1","ADA2","BCOR","BMPR1B","CANT1","CHSY1","DACT1","DVL1","ESCO2","FANCA","FANCC","FANCD2","FANCE","FGF10","FGFR2","FGFR3","GATA1","GDF5","GJA5","GJA8","GLI1","GLI3","HEATR3","INTU","KIF7","LMBR1","NAA10","NUP107","PAH","PPP2R3C","RAB23","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS7","SALL1","SF3B2","SHMT2","SMO","TBX5","TSR2","UBE2T"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_COMPLETE_DUPLICATION_OF_PHALANX_OF_HAND":{"collection":"C5:HPO","systematicName":"M37479","pmid":"","exactSource":"HP:0009998","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009998","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_COMPLETE_DUPLICATION_OF_PHALANX_OF_HAND","geneSymbols":["BCOR","BMPR1B","CHSY1","ESCO2","FANCA","FANCC","FANCD2","FANCE","GDF5","LEMD3","LMBR1","NAA10","RAB23","SHMT2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PARTIAL_DUPLICATION_OF_THE_PHALANX_OF_HAND":{"collection":"C5:HPO","systematicName":"M37480","pmid":"","exactSource":"HP:0009999","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0009999","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PARTIAL_DUPLICATION_OF_THE_PHALANX_OF_HAND","geneSymbols":["ADA2","CANT1","CHSY1","DACT1","DVL1","FANCD2","FGF10","FGFR2","GATA1","GLI1","HEATR3","INTU","KIF7","NUP107","PAH","PPP2R3C","RNU4ATAC","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS7","SALL1","SF3B2","TBX5","TSR2","TWIST1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PARTIAL_DUPLICATION_OF_THE_DISTAL_PHALANGES_OF_THE_HAND":{"collection":"C5:HPO","systematicName":"M37481","pmid":"","exactSource":"HP:0010004","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010004","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PARTIAL_DUPLICATION_OF_THE_DISTAL_PHALANGES_OF_THE_HAND","geneSymbols":["CANT1","FGFR2","KIF7","PAH","PPP2R3C","TWIST1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_1ST_METACARPAL_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M37482","pmid":"","exactSource":"HP:0010009","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010009","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_1ST_METACARPAL_MORPHOLOGY","geneSymbols":["ACVR1","BMPR1B","BRD4","CANT1","DLK1","FANCD2","FANCI","FIG4","FZD2","GDF5","GNAS","HDAC8","HOXA13","IHH","LAMA5","LMBR1","MEG3","NIPBL","NOG","NONO","NPR3","PCNT","PQBP1","RAD21","RNU4ATAC","ROBO1","RTL1","SALL4","SETBP1","SHH","SMC1A","SMC3","SOX9","SRCAP","TRIO","VAC14","VPS35L","XRCC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_2ND_METACARPAL_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M37483","pmid":"","exactSource":"HP:0010010","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010010","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_2ND_METACARPAL_MORPHOLOGY","geneSymbols":["BMP2","BMPR1B","GDF5","GLI3","RUNX2","SALL1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_4TH_METACARPAL_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M37484","pmid":"","exactSource":"HP:0010012","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010012","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_4TH_METACARPAL_MORPHOLOGY","geneSymbols":["DCHS1","EIF4A3","FAT4","FBXL3","FERMT1","FGF16","FLNA","GLI3","GNAS","HOXD13","LBR","PIGS","PORCN","PRKG2","PTCH1","SHOX","SMOC1","SRY","SVBP","TBX3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_5TH_METACARPAL_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M37485","pmid":"","exactSource":"HP:0010013","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010013","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_5TH_METACARPAL_MORPHOLOGY","geneSymbols":["BMP2","COL11A2","CSPP1","EIF4A3","FBN1","FERMT1","FGF16","FLNA","GNAS","HOXD13","KIAA0586","LBR","LTBP3","NOG","PRKG2","RUNX2","SMOC1","SRCAP","SVBP","TBX3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APLASIA_HYPOPLASIA_OF_THE_1ST_METACARPAL":{"collection":"C5:HPO","systematicName":"M45434","pmid":"","exactSource":"HP:0010026","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010026","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_1ST_METACARPAL","geneSymbols":["ACVR1","BMPR1B","BRD4","CANT1","DLK1","FANCD2","FANCI","FIG4","FZD2","GDF5","HDAC8","HOXA13","LAMA5","LMBR1","MEG3","NIPBL","NOG","PCNT","RAD21","ROBO1","RTL1","SALL4","SETBP1","SHH","SMC1A","SMC3","SOX9","SRCAP","TRIO","VAC14","VPS35L","XRCC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SHORT_1ST_METACARPAL":{"collection":"C5:HPO","systematicName":"M37486","pmid":"","exactSource":"HP:0010034","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010034","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_1ST_METACARPAL","geneSymbols":["ACVR1","BMPR1B","BRD4","CANT1","DLK1","FANCI","FZD2","GDF5","HDAC8","HOXA13","LAMA5","MEG3","NIPBL","NOG","PCNT","RAD21","ROBO1","RTL1","SALL4","SETBP1","SMC1A","SMC3","SOX9","SRCAP","VPS35L"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APLASIA_HYPOPLASIA_OF_THE_2ND_METACARPAL":{"collection":"C5:HPO","systematicName":"M37488","pmid":"","exactSource":"HP:0010036","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010036","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_2ND_METACARPAL","geneSymbols":["BMP2","BMPR1B","GDF5","GLI3","RUNX2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APLASIA_HYPOPLASIA_OF_THE_3RD_METACARPAL":{"collection":"C5:HPO","systematicName":"M47148","pmid":"","exactSource":"HP:0010039","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010039","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_3RD_METACARPAL","geneSymbols":["FLNA","GNAS","LBR","SVBP","TBX3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APLASIA_HYPOPLASIA_OF_THE_4TH_METACARPAL":{"collection":"C5:HPO","systematicName":"M37489","pmid":"","exactSource":"HP:0010042","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010042","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_4TH_METACARPAL","geneSymbols":["DCHS1","FAT4","FBXL3","FERMT1","FLNA","GLI3","GNAS","LBR","PIGS","PORCN","PRKG2","PTCH1","SHOX","SRY","SVBP","TBX3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APLASIA_HYPOPLASIA_OF_THE_5TH_METACARPAL":{"collection":"C5:HPO","systematicName":"M37490","pmid":"","exactSource":"HP:0010045","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010045","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_5TH_METACARPAL","geneSymbols":["BMP2","COL11A2","FERMT1","FGF16","FLNA","GNAS","HOXD13","LBR","NOG","PRKG2","RUNX2","SRCAP","SVBP","TBX3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APLASIA_OF_METACARPAL_BONES":{"collection":"C5:HPO","systematicName":"M37491","pmid":"","exactSource":"HP:0010048","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010048","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_OF_METACARPAL_BONES","geneSymbols":["FANCD2","FIG4","GLI3","LMBR1","RECQL4","SALL4","SHH","TBX3","TRIO","VAC14","XRCC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DEVIATION_OF_THE_HALLUX":{"collection":"C5:HPO","systematicName":"M37492","pmid":"","exactSource":"HP:0010051","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010051","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEVIATION_OF_THE_HALLUX","geneSymbols":["ACVR1","AEBP1","AKT1","ATL3","ATP6V1B2","B3GALT6","B3GAT3","BAZ1B","BCL7B","BMP2","BMPR1B","BUD23","C2CD3","CDKL5","CHST11","CHST3","CLIP2","COL1A1","COL1A2","CREBBP","CWC27","DNAJC30","DYRK1A","EIF4H","ELN","EP300","ERF","ERMARD","FGF9","FGFR1","FGFR2","FGFR3","FHL1","FKBP6","GBA1","GDF5","GTF2I","GTF2IRD1","GTF2IRD2","H4C9","HEATR3","HOXA13","HOXD13","IL11RA","ITCH","KAT6A","KCNH1","KCNMA1","KCNN3","LIMK1","METTL27","MLXIPL","MYH3","NCF1","NFIX","NONO","NUP107","PCDHGC4","PRDM5","PSMB8","PTEN","RBBP8","RFC2","SCARF2","SF3B4","SLC16A2","SLC29A3","SMARCA2","SOX9","SRY","STX1A","TBC1D2B","TBL2","TCF12","TMEM270","TP63","TTI2","TWIST1","USP7","USP9X","VPS37D","YY1","ZEB2","ZMIZ1","ZNF469","ZNF668"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_MORPHOLOGY_OF_THE_PROXIMAL_PHALANX_OF_THE_HALLUX":{"collection":"C5:HPO","systematicName":"M47149","pmid":"","exactSource":"HP:0010052","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010052","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MORPHOLOGY_OF_THE_PROXIMAL_PHALANX_OF_THE_HALLUX","geneSymbols":["FGFR1","FGFR2","FIG4","IHH","RAB23","VAC14"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_DISTAL_PHALANX_OF_THE_HALLUX":{"collection":"C5:HPO","systematicName":"M37493","pmid":"","exactSource":"HP:0010053","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010053","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_DISTAL_PHALANX_OF_THE_HALLUX","geneSymbols":["CANT1","FGFR1","FGFR2","FIG4","HOXD13","MAP3K20","PTHLH","TBR1","TWIST1","VAC14"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_FIRST_METATARSAL_BONE":{"collection":"C5:HPO","systematicName":"M37494","pmid":"","exactSource":"HP:0010054","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010054","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_FIRST_METATARSAL_BONE","geneSymbols":["ABCC9","ACVR1","CANT1","EP300","FGFR1","FGFR2","FIG4","HOXA13","NEK1","TTC26","TWIST1","VAC14","VPS35L"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_HALLUX_PHALANX_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M37495","pmid":"","exactSource":"HP:0010057","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010057","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_HALLUX_PHALANX_MORPHOLOGY","geneSymbols":["ABCC9","ACTB","ACVR1","BHLHA9","BMP2","C2CD3","CANT1","CREBBP","CTCF","DACT1","EFNB1","EP300","FGFR1","FGFR2","FIG4","FLI1","GATA4","GLI3","GPC4","HOXD13","HYLS1","IFT122","IHH","KCNJ8","KIAA0753","KIF7","LMBR1","MAP3K20","NEK1","NXN","PTHLH","RAB23","ROR2","SALL1","SALL4","SATB2","SMO","SUMF1","TBR1","TWIST1","VAC14"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APLASIA_HYPOPLASIA_OF_THE_PHALANGES_OF_THE_HALLUX":{"collection":"C5:HPO","systematicName":"M37496","pmid":"","exactSource":"HP:0010058","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010058","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_PHALANGES_OF_THE_HALLUX","geneSymbols":["ACVR1","FIG4","HOXD13","IHH","MAP3K20","PTHLH","VAC14"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BROAD_HALLUX_PHALANX":{"collection":"C5:HPO","systematicName":"M37497","pmid":"","exactSource":"HP:0010059","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010059","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BROAD_HALLUX_PHALANX","geneSymbols":["ABCC9","BMP2","CREBBP","CTCF","DACT1","EFNB1","EP300","FGFR1","FGFR2","FLI1","GATA4","GLI3","GPC4","HOXD13","KCNJ8","NXN","ROR2","SALL1","SALL4","SATB2","SUMF1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DUPLICATION_OF_PHALANX_OF_HALLUX":{"collection":"C5:HPO","systematicName":"M37498","pmid":"","exactSource":"HP:0010066","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010066","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DUPLICATION_OF_PHALANX_OF_HALLUX","geneSymbols":["ACTB","C2CD3","CANT1","CREBBP","EP300","HYLS1","KIAA0753","KIF7","LMBR1","NEK1","RAB23","TWIST1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BROAD_FIRST_METATARSAL":{"collection":"C5:HPO","systematicName":"M47150","pmid":"","exactSource":"HP:0010068","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010068","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BROAD_FIRST_METATARSAL","geneSymbols":["ABCC9","CANT1","FGFR1","FGFR2","NEK1","TTC26"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APLASIA_HYPOPLASIA_OF_THE_DISTAL_PHALANX_OF_THE_HALLUX":{"collection":"C5:HPO","systematicName":"M46168","pmid":"","exactSource":"HP:0010076","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010076","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_DISTAL_PHALANX_OF_THE_HALLUX","geneSymbols":["FIG4","HOXD13","MAP3K20","PTHLH","VAC14"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SHORT_FIRST_METATARSAL":{"collection":"C5:HPO","systematicName":"M47151","pmid":"","exactSource":"HP:0010105","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010105","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_FIRST_METATARSAL","geneSymbols":["EP300","FGFR1","FGFR2","HOXA13","VPS35L"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MESOAXIAL_FOOT_POLYDACTYLY":{"collection":"C5:HPO","systematicName":"M46169","pmid":"","exactSource":"HP:0010112","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010112","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MESOAXIAL_FOOT_POLYDACTYLY","geneSymbols":["GJA5","GJA8","GLI3","MAP3K20","TFAP2B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_TOE_PHALANX_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M37501","pmid":"","exactSource":"HP:0010161","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010161","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_TOE_PHALANX_MORPHOLOGY","geneSymbols":["ABCC9","ACTB","ACVR1","ARID1B","ARSL","ARX","ATP6V1B2","BHLHA9","BMP2","BMPR1A","BMPR1B","BRCA1","BRCA2","BRIP1","C2CD3","CANT1","CASK","CDKL5","COL12A1","COL3A1","COL6A1","COL6A2","COL6A3","CREBBP","CTCF","DACT1","DMXL2","EFNB1","EOGT","EP300","ERCC4","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FGFR1","FGFR2","FGFR3","FIG4","FLI1","GATA4","GDF5","GLI3","GNAO1","GPC4","GRIN1","GRM7","HNRNPH1","HOXD13","HPGD","HS2ST1","HYLS1","IFT122","IHH","KCNA1","KCNH1","KCNJ8","KCNN3","KIAA0753","KIF1A","KIF7","LMBR1","LMNA","MAD2L2","MAP3K20","MED25","NEK1","NEUROD2","NOG","NOTCH2","NXN","PALB2","PIGF","PIGL","PIGP","PIGQ","PNKP","PTEN","PTHLH","RAB23","RAD51","RAD51C","RETREG1","RFWD3","RHBDF2","RIPK4","ROR2","SALL1","SALL4","SATB2","SCN1B","SCN2A","SCN9A","SIK1","SLC25A22","SLC32A1","SLCO2A1","SLX4","SMARCA2","SMARCA4","SMO","SOX9","SUMF1","TBC1D24","TBR1","TLL1","TP63","TRIM8","TRPV4","TWIST1","UBE2A","UBE2T","VAC14","WDR19","WLS","WNK1","WNT7A","XRCC2","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APLASIA_HYPOPLASIA_OF_THE_PHALANGES_OF_THE_TOES":{"collection":"C5:HPO","systematicName":"M37502","pmid":"","exactSource":"HP:0010173","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010173","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_PHALANGES_OF_THE_TOES","geneSymbols":["ACVR1","ARID1B","ARSL","ATP6V1B2","BMPR1B","EOGT","FIG4","GDF5","GPC4","HOXD13","IHH","KCNH1","KCNN3","LMNA","MAP3K20","NOG","PIGF","PIGL","PTHLH","RAB23","RIPK4","ROR2","SMARCA4","TBC1D24","TP63","TRPV4","VAC14","WLS","WNT7A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BROAD_PHALANX_OF_THE_TOES":{"collection":"C5:HPO","systematicName":"M37503","pmid":"","exactSource":"HP:0010174","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010174","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BROAD_PHALANX_OF_THE_TOES","geneSymbols":["ABCC9","ARX","BMP2","BMPR1A","CASK","CDKL5","CREBBP","CTCF","DACT1","DMXL2","EFNB1","EP300","FGFR1","FGFR2","FLI1","GATA4","GLI3","GNAO1","GPC4","GRIN1","GRM7","HOXD13","HS2ST1","KCNA1","KCNJ8","MED25","NEUROD2","NXN","PIGP","PIGQ","PNKP","PTEN","ROR2","SALL1","SALL4","SATB2","SCN1B","SCN2A","SIK1","SLC25A22","SLC32A1","SUMF1","TRIM8","WDR19"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_DISTAL_PHALANGES_OF_THE_TOES":{"collection":"C5:HPO","systematicName":"M37504","pmid":"","exactSource":"HP:0010182","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010182","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_DISTAL_PHALANGES_OF_THE_TOES","geneSymbols":["ARID1B","ARSL","CANT1","EOGT","FGFR1","FGFR2","FIG4","GPC4","HOXD13","HS2ST1","KCNH1","KCNN3","LMNA","MAP3K20","MED25","NOG","PIGF","PTHLH","RIPK4","ROR2","TBR1","TRPV4","TWIST1","VAC14","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_MIDDLE_PHALANGES_OF_THE_TOES":{"collection":"C5:HPO","systematicName":"M37505","pmid":"","exactSource":"HP:0010183","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010183","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_MIDDLE_PHALANGES_OF_THE_TOES","geneSymbols":["EOGT","FGFR1","FGFR2","FGFR3","FIG4","HOXD13","IHH","NOG","RAB23","TRPV4","VAC14"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APLASIA_HYPOPLASIA_OF_THE_DISTAL_PHALANGES_OF_THE_TOES":{"collection":"C5:HPO","systematicName":"M37506","pmid":"","exactSource":"HP:0010185","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010185","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_DISTAL_PHALANGES_OF_THE_TOES","geneSymbols":["ARID1B","ARSL","EOGT","FIG4","GPC4","HOXD13","KCNH1","KCNN3","MAP3K20","NOG","PIGF","PTHLH","RIPK4","ROR2","TRPV4","VAC14"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BROAD_DISTAL_PHALANX_OF_THE_TOES":{"collection":"C5:HPO","systematicName":"M47152","pmid":"","exactSource":"HP:0010186","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010186","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BROAD_DISTAL_PHALANX_OF_THE_TOES","geneSymbols":["FGFR1","FGFR2","HOXD13","HS2ST1","MED25"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APLASIA_HYPOPLASIA_OF_THE_MIDDLE_PHALANGES_OF_THE_TOES":{"collection":"C5:HPO","systematicName":"M37507","pmid":"","exactSource":"HP:0010194","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010194","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_MIDDLE_PHALANGES_OF_THE_TOES","geneSymbols":["EOGT","FIG4","IHH","NOG","RAB23","VAC14"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_IVORY_EPIPHYSES_OF_THE_PHALANGES_OF_THE_HAND":{"collection":"C5:HPO","systematicName":"M43373","pmid":"","exactSource":"HP:0010234","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010234","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IVORY_EPIPHYSES_OF_THE_PHALANGES_OF_THE_HAND","geneSymbols":["EIF2AK3","ERCC6","ERCC8","SRCAP","TONSL","TRPS1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PSEUDOEPIPHYSES_OF_THE_PHALANGES_OF_THE_HAND":{"collection":"C5:HPO","systematicName":"M45435","pmid":"","exactSource":"HP:0010235","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010235","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PSEUDOEPIPHYSES_OF_THE_PHALANGES_OF_THE_HAND","geneSymbols":["BMPR1B","GDF5","KCNH1","NPR3","RAB23"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APLASIA_OF_THE_MIDDLE_PHALANX_OF_THE_HAND":{"collection":"C5:HPO","systematicName":"M37509","pmid":"","exactSource":"HP:0010239","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010239","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_OF_THE_MIDDLE_PHALANX_OF_THE_HAND","geneSymbols":["ATP6V1B2","FGFR2","FIG4","GJA1","IFT140","LMNA","MEGF8","NSDHL"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SHORT_PROXIMAL_PHALANX_OF_FINGER":{"collection":"C5:HPO","systematicName":"M37510","pmid":"","exactSource":"HP:0010241","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010241","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_PROXIMAL_PHALANX_OF_FINGER","geneSymbols":["BMPR1B","COL2A1","FGFR3","GDF5","IHH","KIF15","MTOR"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APLASIA_OF_THE_PROXIMAL_PHALANGES_OF_THE_HAND":{"collection":"C5:HPO","systematicName":"M37511","pmid":"","exactSource":"HP:0010242","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010242","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_OF_THE_PROXIMAL_PHALANGES_OF_THE_HAND","geneSymbols":["BMPR1B","FANCD2","FIG4","LMBR1","SHH","TRIO","VAC14","XRCC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_EPIPHYSES_OF_THE_DISTAL_PHALANX_OF_FINGER":{"collection":"C5:HPO","systematicName":"M41382","pmid":"","exactSource":"HP:0010243","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010243","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_EPIPHYSES_OF_THE_DISTAL_PHALANX_OF_FINGER","geneSymbols":["ARSL","BMPR1B","GDF5","MRPS28","SRCAP","TRPS1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_EPIPHYSES_OF_THE_PROXIMAL_PHALANGES_OF_THE_HAND":{"collection":"C5:HPO","systematicName":"M45436","pmid":"","exactSource":"HP:0010245","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010245","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_EPIPHYSES_OF_THE_PROXIMAL_PHALANGES_OF_THE_HAND","geneSymbols":["GDF5","IHH","NPR3","RAB23","TRPS1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_STOMATITIS":{"collection":"C5:HPO","systematicName":"M37512","pmid":"","exactSource":"HP:0010280","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010280","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_STOMATITIS","geneSymbols":["BCOR","C4A","CARMIL2","CASP10","CCR1","CD40LG","CEBPE","CLPB","DCLRE1C","ELANE","ERAP1","FAS","FASLG","FIP1L1","GCGR","GFI1","HLA-B","HLA-DQA1","HLA-DQB1","HYOU1","IFNGR1","IL10","IL12A","IL12A-AS1","IL17RC","IL1RN","IL23R","IL6","IRF2BP2","IRF9","ITK","KLRC4","KYNU","LMBRD1","MALT1","MEFV","MMACHC","MVK","NABP1","NCF4","NLRP12","NLRP3","NOD2","NPM1","NUMA1","ORAI1","PML","PRKAR1A","PRKCD","PRKDC","RARA","RASGRP1","RHOH","RIN2","RNF125","RORC","SLC37A4","SRP19","SRP54","STAT3","STAT4","STAT5B","STK4","TBL1XR1","TCIRG1","TICAM1","TLR4","TLR8","UBAC2","WDR1","ZAP70","ZBTB16"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_THIN_LOWER_LIP_VERMILION":{"collection":"C5:HPO","systematicName":"M43374","pmid":"","exactSource":"HP:0010282","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010282","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THIN_LOWER_LIP_VERMILION","geneSymbols":["HS2ST1","KNSTRN","PIGN","PIK3CD","THOC6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INTRA_ORAL_HYPERPIGMENTATION":{"collection":"C5:HPO","systematicName":"M46170","pmid":"","exactSource":"HP:0010284","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010284","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTRA_ORAL_HYPERPIGMENTATION","geneSymbols":["ABCD1","ATRX","BRAF","CDH23","MTX2","NR3C1","TP53","USP48","USP8"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_SALIVARY_GLAND_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M37513","pmid":"","exactSource":"HP:0010286","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010286","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SALIVARY_GLAND_MORPHOLOGY","geneSymbols":["ATP2A2","B2M","BTNL2","CXCR4","FGF10","FGFR2","FGFR3","GRHL3","HLA-DRB1","IRF6","MLH1","MSH2","MSH6","NOD2","OGDH","PLAG1","PSMB8","TCOF1","TP63"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APLASIA_HYPOPLASIA_OF_THE_UVULA":{"collection":"C5:HPO","systematicName":"M37515","pmid":"","exactSource":"HP:0010293","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010293","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_UVULA","geneSymbols":["BRCA1","BRCA2","BRIP1","ERCC4","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","MAD2L2","NXN","PALB2","PI4KA","PRR12","RAD51","RAD51C","RFWD3","ROR2","SLX4","SPTBN1","UBE2T","WDR35","XRCC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PALATE_FISTULA":{"collection":"C5:HPO","systematicName":"M37516","pmid":"","exactSource":"HP:0010294","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010294","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PALATE_FISTULA","geneSymbols":["ARHGAP29","ARHGEF38","BMP4","CDH1","COBLL1","DLG1","DLX4","IRF6","MSX1","NECTIN1","PDGFRA","RIC1","TP63"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APLASIA_HYPOPLASIA_OF_THE_TONGUE":{"collection":"C5:HPO","systematicName":"M37517","pmid":"","exactSource":"HP:0010295","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010295","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_TONGUE","geneSymbols":["B9D1","B9D2","BMP4","CC2D2A","CEP290","CSPP1","DHCR7","ECM1","EDN1","GLI3","GNAI3","LMNB2","MKS1","MYMK","MYMX","NEK1","OTX2","PLCB4","PLXND1","PRRX1","PTDSS1","RBBP8","REV3L","RPGRIP1","RPGRIP1L","SMO","TBX15","TCTN1","TCTN2","TCTN3","TMEM107","TMEM216","TMEM231","TMEM237","TMEM67","TRIM37","TXNDC15","VPS13B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ANKYLOGLOSSIA":{"collection":"C5:HPO","systematicName":"M37518","pmid":"","exactSource":"HP:0010296","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010296","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANKYLOGLOSSIA","geneSymbols":["ADNP","AFF3","BCR","CDC42BPB","COL7A1","CRKL","DDX59","FAM111A","H4C5","KMT2D","LMNA","MAPK1","MID1","MMP1","NXN","OFD1","POU4F1","PRR12","ROR2","RSPO2","SETBP1","SLC37A4","SPTBN1","TBX22","TELO2","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BIFID_TONGUE":{"collection":"C5:HPO","systematicName":"M37519","pmid":"","exactSource":"HP:0010297","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010297","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BIFID_TONGUE","geneSymbols":["ALX3","C2CD3","CEP120","DDX59","DHCR7","DVL1","DVL3","DYNC2H1","DYNC2I1","DYNC2I2","FRAS1","FREM2","FZD2","GRIP1","HNRNPK","IFT80","IPO8","MCTP2","NEK1","NXN","OFD1","RIPK4","ROR2","WDR35","WNT5A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SMOOTH_TONGUE":{"collection":"C5:HPO","systematicName":"M47153","pmid":"","exactSource":"HP:0010298","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010298","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SMOOTH_TONGUE","geneSymbols":["IL6ST","KRT14","KRT5","LIFR","WNT10A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_DENTIN_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M37520","pmid":"","exactSource":"HP:0010299","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010299","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_DENTIN_MORPHOLOGY","geneSymbols":["ACP4","AMELX","B3GALT6","BMP1","CCDC134","CDH11","COL1A1","COL1A2","CRTAP","DSPP","FKBP10","IFITM5","MBTPS2","MIA3","P3H1","P4HB","PHEX","PPIB","SEC24D","SERPINF1","SERPINH1","SP7","SPARC","TRIP11","ZNF469"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALLY_LOW_PITCHED_VOICE":{"collection":"C5:HPO","systematicName":"M37521","pmid":"","exactSource":"HP:0010300","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010300","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALLY_LOW_PITCHED_VOICE","geneSymbols":["BRD4","EED","EZH2","GRIN2A","HDAC8","NIPBL","NSD1","RAD21","SMC1A","SMC3","SRPX2","SUZ12","TRPS1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SPINAL_DYSRAPHISM":{"collection":"C5:HPO","systematicName":"M45437","pmid":"","exactSource":"HP:0010301","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010301","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPINAL_DYSRAPHISM","geneSymbols":["ACTB","AMER1","ARID1B","ARVCF","ATP6V1B2","B3GLCT","BAZ1B","BCL7B","BICD2","BMP2","BMS1","BRAF","BRCA1","BRCA2","BRIP1","BUD23","CCBE1","CCL2","CCNQ","CDK13","CHN1","CHRNG","CLIP2","COL18A1","COLEC10","COLEC11","COMT","CREBBP","CUL7","DACT1","DARS1","DLK1","DLL3","DLL4","DNAJC30","EIF4H","ELN","EP300","ERCC4","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FIBP","FKBP6","FLI1","FLNA","FLNB","FUZ","GDF3","GDF6","GP1BB","GTF2I","GTF2IRD1","GTF2IRD2","HAAO","HES7","HIRA","HMX1","HRAS","IKBKG","IRF6","ITGB4","JMJD1C","KANSL1","KCNH1","KIF22","LFNG","LIG4","LIMK1","LMX1B","MAD2L2","MAFB","MAP3K7","MASP1","MEG3","MEOX1","MESP2","METTL27","MLXIPL","MTHFD1","MTHFR","MTR","MTRR","MYH3","NCF1","NEK9","NF1","NOTCH2NLC","NSUN2","PALB2","PAX3","PHGDH","PIK3CA","PLEC","POLA1","PORCN","PSAT1","PTCH1","PTDSS1","PTPN11","PUF60","RAB23","RAD51","RAD51C","RAF1","RBM8A","RECQL4","RFC2","RFWD3","RIPPLY2","RMRP","RORA","RPS19","RREB1","RTL1","RUNX2","SALL4","SEC24C","SLC25A19","SLX4","SNRPB","SOX9","STX1A","SUPT16H","TBC1D24","TBL2","TBX1","TBX6","TBXT","TMEM270","TNXB","TRIM36","UBA2","UBE2T","UFD1","VANGL1","VANGL2","VPS37D","WBP11","XRCC2","ZIC1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SPINAL_CORD_TUMOR":{"collection":"C5:HPO","systematicName":"M37522","pmid":"","exactSource":"HP:0010302","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010302","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPINAL_CORD_TUMOR","geneSymbols":["CCND1","COQ6","CREBBP","FLI1","LZTR1","NF2","RELA","SMARCB1","VHL","ZFTA"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_SPINAL_MENINGEAL_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M37523","pmid":"","exactSource":"HP:0010303","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010303","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SPINAL_MENINGEAL_MORPHOLOGY","geneSymbols":["ACTA2","ELN","FBN1","FOXC2","FOXE3","HEY2","KANSL1","LOX","MAT2A","MFAP5","MYH11","MYLK","NF1","NOTCH3","PRKG1","RASA1","SMAD2","SMAD3","SMAD4","TGFB2","TGFB3","TGFBR1","TGFBR2","THSD4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABSENCE_OF_THE_SACRUM":{"collection":"C5:HPO","systematicName":"M37524","pmid":"","exactSource":"HP:0010305","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010305","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENCE_OF_THE_SACRUM","geneSymbols":["CCL2","FANCB","FUZ","HAAO","MNX1","NODAL","PTH1R","TBXT","VANGL1","VANGL2","ZIC3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SHORT_THORAX":{"collection":"C5:HPO","systematicName":"M37525","pmid":"","exactSource":"HP:0010306","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010306","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_THORAX","geneSymbols":["ACAN","BMPER","CCDC8","CEP120","COL2A1","CUL7","DLL3","DYM","DYNC2H1","DYNC2I1","DYNC2I2","DYNC2LI1","EVC","EVC2","FGFR3","FLNA","FREM2","GLI1","HES7","IARS2","IFT122","IFT140","IFT172","IFT52","IFT80","IHH","KIAA0753","LFNG","LTBP1","MBD5","MESP2","NADSYN1","NEU1","OBSL1","ORC6","PRKACA","PRKACB","PTH1R","RIPPLY2","RMRP","RNU12","SLC10A7","SLC26A2","SLC2A1","TBX6","TRIP11","TRPV4","TTC21B","WDR19","WDR35"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_STRIDOR":{"collection":"C5:HPO","systematicName":"M37526","pmid":"","exactSource":"HP:0010307","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010307","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_STRIDOR","geneSymbols":["AGRN","AGTPBP1","CACNA1C","CHAT","COL13A1","COQ2","CTSK","D2HGDH","DST","EXOSC3","EXOSC8","EXOSC9","FLNA","GBA1","GNB1","GNPTAB","GTPBP3","IGHMBP2","JAG1","KIF22","LAMA3","LAMB3","LAMC2","LYRM4","MAP3K7","MID1","MIR140","MYO9A","NFASC","NFIX","PAX8","PLP1","SCARF2","SCN4A","SCO2","SERPING1","SLC18A2","SLC18A3","SLC25A1","SLC25A46","SLC52A3","SLC5A7","SNAP25","SOX9","SYT2","TRPV4","TSPYL1","VAMP1","VPS33A","VRK1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CHYLOTHORAX":{"collection":"C5:HPO","systematicName":"M37527","pmid":"","exactSource":"HP:0010310","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010310","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHYLOTHORAX","geneSymbols":["ACTA1","ADAMTS3","ALG14","BRAF","BTNL2","CBL","CCBE1","EPHB4","FAT4","FOXC2","HLA-DRB1","KIF11","MAP2K1","PIEZO1","PTPN11","RASA1","TSC1","TSC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APLASIA_HYPOPLASIA_OF_THE_BREASTS":{"collection":"C5:HPO","systematicName":"M37528","pmid":"","exactSource":"HP:0010311","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010311","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_BREASTS","geneSymbols":["ACTB","ANOS1","ANTXR1","BMP15","BNC1","CCDC141","CDC45","CDC6","CDT1","CHD7","DCC","DUSP6","DYRK1A","EFNB1","ESR1","FEZF1","FGF17","FGF8","FGFR1","FLRT3","FOXA2","FSHB","FSHR","GLI2","GMNN","GNRH1","GNRHR","HESX1","HS6ST1","IKBKG","IL17RD","KCTD1","KISS1","KISS1R","LHX4","LMNA","MAF","MRPS22","MSH4","NDNF","NHLH2","NIN","NR5A1","NSMF","NUP107","ORC1","ORC4","ORC6","OTX2","PLXND1","POC1A","POLR3H","POU1F1","PROK2","PROKR2","PROP1","PSMC3IP","REV3L","SEMA3A","SOX10","SOX3","SPIDR","SPRY4","TAC3","TACR3","TBX3","TP63","TWIST2","USP9X","WDR11","YY1","ZSWIM7"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PREMATURE_THELARCHE":{"collection":"C5:HPO","systematicName":"M37529","pmid":"","exactSource":"HP:0010314","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010314","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PREMATURE_THELARCHE","geneSymbols":["CREBBP","CYP11B1","DYRK1A","EIF5A","EP300","KDM6A","KMT2D","MKRN3","MMP14","MMP2","TANGO2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_EBSTEIN_ANOMALY_OF_THE_TRICUSPID_VALVE":{"collection":"C5:HPO","systematicName":"M45438","pmid":"","exactSource":"HP:0010316","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010316","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EBSTEIN_ANOMALY_OF_THE_TRICUSPID_VALVE","geneSymbols":["FREM1","GATA1","JPH2","MYH7","NONO","TPM1","YY1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APLASIA_HYPOPLASIA_OF_THE_ABDOMINAL_WALL_MUSCULATURE":{"collection":"C5:HPO","systematicName":"M37530","pmid":"","exactSource":"HP:0010318","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010318","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_ABDOMINAL_WALL_MUSCULATURE","geneSymbols":["ACTG2","ATP7A","BRAF","CANT1","CBL","CD96","CHRM3","CHRNG","COL3A1","COLEC11","CSGALNACT1","DIS3L2","FBN1","FLNB","GPC3","GPC4","KRAS","LZTR1","MANBA","MCOLN1","MRAS","MYH3","NRAS","PTPN11","RAF1","RASA2","RIT1","RMRP","RRAS","RRAS2","SKI","SLC25A24","SOS1","SOS2","SPRED2","XYLT1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_SECOND_TOE_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M37531","pmid":"","exactSource":"HP:0010319","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010319","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SECOND_TOE_MORPHOLOGY","geneSymbols":["ATP6V1B2","BCOR","BMP2","BMPR1B","CHSY1","GDF5","HNRNPR","IPO8","KCNN3","MAP3K20","PIGL","SMARCA2","TBC1D24","TBC1D2B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_THIRD_TOE_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M41384","pmid":"","exactSource":"HP:0010320","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010320","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_THIRD_TOE_MORPHOLOGY","geneSymbols":["BCOR","COG8","DACT1","EOGT","LMNA","MAP3K20","NOG","SALL1","TBC1D2B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_FOURTH_TOE_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M46171","pmid":"","exactSource":"HP:0010321","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010321","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FOURTH_TOE_MORPHOLOGY","geneSymbols":["BCOR","COG8","EOGT","FRA10AC1","HEPHL1","MAP3K20","NOG","PPP2R5D","RAB3GAP2","TBC1D2B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_FIFTH_TOE_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M37532","pmid":"","exactSource":"HP:0010322","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010322","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FIFTH_TOE_MORPHOLOGY","geneSymbols":["ALG3","ARID1B","ARL6","B9D1","B9D2","BBS1","BBS12","BBS2","BBS9","BMP4","C2CD3","CC2D2A","CCDC28B","CD96","CEP120","CEP290","CHSY1","CIBAR1","CKAP2L","CSPP1","DDX59","DHCR7","DLEC1","DYNC2H1","DYNC2I1","DYNC2I2","DYNC2LI1","DYNLT2B","EVC","EVC2","EXTL3","FRA10AC1","FREM1","GLI3","HEPHL1","HOXD13","IFT140","IFT172","IFT27","IFT74","IFT80","INPP5E","IQCE","KCNJ2","KCNJ5","KCNN3","KIAA0753","KIAA0825","KIF7","LBR","LMBR1","LZTFL1","MAP3K20","MKKS","MKS1","NEK1","NOG","NPHP3","OTUD5","PDE6D","PIGH","PLAA","PPP1R15B","PRKACB","RAB3GAP2","RNF6","RPGRIP1","RPGRIP1L","SALL1","SC5D","SCNM1","SETD5","SMARCA4","SMO","SMOC1","SUFU","TCTN1","TCTN2","TCTN3","TGFBR2","TMEM107","TMEM216","TMEM231","TMEM237","TMEM67","TRMT10A","TTC21B","TXNDC15","WDR19","WWOX","ZNF141"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DEVIATION_OF_THE_2ND_TOE":{"collection":"C5:HPO","systematicName":"M46172","pmid":"","exactSource":"HP:0010326","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010326","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEVIATION_OF_THE_2ND_TOE","geneSymbols":["BMP2","BMPR1B","CHSY1","GDF5","HNRNPR"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DEVIATION_OF_THE_4TH_TOE":{"collection":"C5:HPO","systematicName":"M47154","pmid":"","exactSource":"HP:0010338","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010338","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEVIATION_OF_THE_4TH_TOE","geneSymbols":["COG8","FRA10AC1","HEPHL1","NOG","RAB3GAP2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DEVIATION_OF_THE_5TH_TOE":{"collection":"C5:HPO","systematicName":"M37533","pmid":"","exactSource":"HP:0010344","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010344","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEVIATION_OF_THE_5TH_TOE","geneSymbols":["ALG3","CHSY1","CKAP2L","DLEC1","FRA10AC1","HEPHL1","KCNJ2","KCNJ5","PIGH","PPP1R15B","RAB3GAP2","RNF6","SALL1","TGFBR2","TRMT10A","WWOX"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APLASIA_HYPOPLASIA_OF_THE_PHALANGES_OF_THE_5TH_TOE":{"collection":"C5:HPO","systematicName":"M47155","pmid":"","exactSource":"HP:0010383","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010383","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_PHALANGES_OF_THE_5TH_TOE","geneSymbols":["ARID1B","KCNN3","MAP3K20","NOG","SMARCA4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_VENTRICULAR_SEPTUM_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M37534","pmid":"","exactSource":"HP:0010438","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010438","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_VENTRICULAR_SEPTUM_MORPHOLOGY","geneSymbols":["AARS1","ABL1","ACADVL","ACVR2B","ADA2","ADAMTS10","AFF4","AKT3","ALDH1A2","ALG12","ALG8","ALG9","ALKBH8","ALPK3","AMER1","ANKRD11","APC2","ARCN1","ARHGAP31","ARID1A","ARID1B","ARID2","ARSL","ARVCF","ARX","ASXL1","ATN1","ATP6V0A2","ATRX","B3GALT6","B3GLCT","BAP1","BAZ1B","BCL7B","BCOR","BCR","BMP2","BRAF","BRD4","BRF1","BSCL2","BUD23","C2CD3","CACNA1C","CACNA1D","CALM3","CAMK2A","CANT1","CARS1","CASK","CCBE1","CCDC174","CCDC22","CCDC32","CCDC47","CCND2","CD96","CDC45","CDK13","CDK8","CDKL5","CEP290","CEP57","CHD3","CHD4","CHD7","CHMP1A","CHRM3","CHST3","CIROP","CITED2","CKAP2L","CLIP2","COG6","COG7","COMT","COQ4","COX7B","CPLX1","CRB2","CREBBP","CRKL","CSGALNACT1","CSRP3","CTBP1","CTU2","CUX1","CWC27","DDX11","DDX59","DGCR2","DGCR6","DGCR8","DHCR7","DLK1","DLL4","DMXL2","DNAJC19","DNAJC30","DNMT3A","DOHH","DPF2","DPH1","DPH2","DPH5","DPYSL5","DSG1","DST","DTNA","DVL3","DYNC2I1","DYNC2LI1","DYRK1A","ECE1","ECHS1","EFTUD2","EIF4H","ELN","EOGT","EP300","ERBB3","ERCC2","ERCC3","ESCO2","ESS2","EVC","EVC2","EXOC2","EXT2","FADD","FANCB","FANCC","FANCI","FBN1","FBN2","FGFR1","FGFR2","FGFRL1","FH","FIBP","FIG4","FKBP6","FLI1","FLNB","FOCAD","FOXC2","FOXF1","FRA10AC1","FTO","GATA1","GATA4","GATA5","GATA6","GDF1","GDF3","GDF6","GET3","GJA1","GJA5","GJA8","GLA","GLI1","GLI3","GNAO1","GNB2","GP1BB","GPC3","GPC4","GPC6","GRIN1","GRM7","GTF2E2","GTF2H5","GTF2I","GTF2IRD1","GTF2IRD2","GYG1","HCCS","HDAC8","HEATR3","HIRA","HNRNPK","HNRNPR","HOXA13","HRAS","HYLS1","HYMAI","IDH1","IFT172","IFT27","IFT81","IGBP1","IGF1R","INSR","IPO8","JAG1","JAM3","JMJD1C","KANSL1","KAT5","KAT6A","KAT6B","KAT8","KCNA1","KDM3B","KDM6A","KIFBP","KLHL41","KMT2D","KRAS","LARS2","LBR","LEMD2","LETM1","LIMK1","LONP1","LRP2","LRP5","LTBP2","LZTR1","MACF1","MAP2K1","MAP2K2","MAP3K7","MAPK1","MASP1","MED12","MED13L","MED23","MED25","MEG3","MEIS2","MEOX1","METTL27","MGAT2","MGP","MICU1","MID1","MIR17HG","MKKS","MLXIPL","MMP14","MMP2","MPLKIP","MT-CYB","MTFMT","MYBPC3","MYCN","MYH3","MYH7","MYL2","MYOCD","MYPN","MYRF","NAA10","NAA20","NAE1","NCF1","NDUFB11","NDUFB7","NDUFC2","NEDD4L","NEK1","NEK9","NEUROD2","NF1","NFIX","NIPA1","NIPA2","NIPBL","NKAP","NKX2-1","NKX2-5","NKX2-6","NODAL","NONO","NOTCH1","NOTCH2","NOTCH3","NR2F2","NSD1","NSD2","NUP107","NUP188","NXN","ODAD1","ODAD3","OTUD5","OTUD6B","PACS1","PACS2","PAH","PALB2","PDHA1","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PGM1","PHGDH","PI4KA","PIEZO2","PIGL","PIGP","PIGQ","PIK3CA","PIK3R2","PKD1L1","PLAGL1","PLCH1","PLD1","PLXND1","PNKP","POLA1","PORCN","PPFIBP1","PPM1D","PPP1CB","PPP2CA","PPP2R5D","PQBP1","PRDM13","PRKACA","PRKACB","PSMC1","PSMD12","PTPN11","PUF60","RAB23","RAC1","RAD21","RAI1","RARB","RBM8A","RERE","RFC2","RFX7","RIT1","RNF113A","RNU4ATAC","ROR2","RPL10","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL3L","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS7","RRAS2","RREB1","RSPO2","RTL1","RYR1","SALL1","SALL4","SATB1","SATB2","SCN1B","SCN2A","SEC24C","SEC31A","SETD2","SETD5","SF3B2","SF3B4","SH3PXD2B","SHANK3","SHOC2","SIK1","SIX6","SKIC2","SKIC3","SLC12A2","SLC19A2","SLC25A22","SLC29A3","SLC32A1","SLC37A4","SLF2","SMAD2","SMAD4","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SMC1A","SMC3","SMG8","SMG9","SMN1","SNRPB","SON","SOS1","SOS2","SOX11","SOX2","SOX4","SPECC1L","SPEN","SPTBN1","STAG1","STAG2","STAMBP","STRA6","STX1A","SVBP","SYNE1","TAB2","TALDO1","TAOK1","TAPT1","TARS1","TASP1","TBC1D24","TBCK","TBL2","TBX1","TBX3","TBX5","TCIRG1","TCTN3","TET3","TFAP2B","TGDS","TGFB3","THOC6","TIAM1","TKT","TMEM237","TMEM260","TMEM270","TMEM53","TMEM94","TNFRSF11A","TNNT2","TP63","TPR","TRAIP","TRIM8","TRIO","TRRAP","TSR2","TTC26","TTC7A","TUBG1","TXNL4A","UBE2A","UBE3B","UBR1","UBR7","UFD1","UMPS","UQCRFS1","VAC14","VIPAS39","VPS13B","VPS33B","VPS35L","VPS37D","WAC","WASHC5","WBP11","WDR26","WDR37","WNT4","WT1","XYLT1","XYLT2","YARS1","YY1AP1","ZBTB7A","ZEB2","ZIC3","ZMYM2","ZNF462","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_POLYDACTYLY":{"collection":"C5:HPO","systematicName":"M37535","pmid":"","exactSource":"HP:0010442","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010442","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POLYDACTYLY","geneSymbols":["ABCA12","ACOX1","ADNP","AFF3","AHI1","AKT3","ALMS1","ALX3","ARL13B","ARL3","ARL6","ARMC9","ARVCF","B9D1","B9D2","BBIP1","BBS1","BBS10","BBS12","BBS2","BBS4","BBS5","BBS7","BBS9","BHLHA9","BLM","BMP4","BMPR1B","C2CD3","CASZ1","CBY1","CC2D2A","CCDC22","CCDC28B","CCND2","CD96","CDC45","CDCA7","CDKN1C","CENPF","CEP104","CEP120","CEP164","CEP19","CEP290","CEP41","CFAP418","CHD7","CHN1","CHST11","CHSY1","CIBAR1","CILK1","CNTNAP2","COG6","COLEC10","COMT","CPLANE1","CPLX1","CRB2","CREBBP","CSPP1","CTBP1","CTU2","DACT1","DDX59","DEAF1","DHCR7","DPYSL5","DYNC2H1","DYNC2I1","DYNC2I2","DYNC2LI1","DYNLT2B","DYRK1A","EBP","EFNB1","EFTUD2","EP300","EVC","EVC2","EXTL3","FAM149B1","FANCB","FANCD2","FBLN1","FGFR2","FGFRL1","FLI1","FLII","FLNA","FOXA2","GABRD","GATA6","GDF5","GDF6","GJA1","GJA5","GJA8","GLI1","GLI2","GLI3","GP1BB","GPC3","GPC4","H19","H3-3B","HEATR3","HEPACAM","HESX1","HIRA","HMGA2","HNRNPK","HOXA13","HOXD13","HSPG2","HYLS1","IFT140","IFT172","IFT27","IFT43","IFT52","IFT57","IFT74","IFT80","IFT81","IGF2","INPP5E","INSR","INTU","IQCE","IQSEC2","JMJD1C","KATNIP","KCNAB2","KIAA0586","KIAA0753","KIAA0825","KIF3B","KIF7","LBR","LETM1","LHX3","LHX4","LMBR1","LUZP1","LZTFL1","MAFB","MAP3K20","MAPKAPK5","MBTPS2","MEGF8","MKKS","MKS1","MMP23B","NCAPG2","NEK1","NEK9","NELFA","NEU1","NKX2-5","NKX2-6","NPHP1","NPHP3","NSD2","OFD1","OTUD5","OTX2","PDE6D","PDPN","PHF8","PIBF1","PIGG","PIK3CA","PIK3R2","PITX1","PLAA","PLAG1","PNPLA6","PORCN","POU1F1","PPP2R1A","PRDM16","PRKACA","PRKACB","PRKCZ","PROP1","PTCH1","PTEN","PUF60","PURA","RAB23","RAI1","RBBP8","RBM10","RERE","RNU4ATAC","RPGRIP1","RPGRIP1L","RREB1","SALL1","SALL4","SC5D","SCAPER","SCLT1","SCNM1","SDCCAG8","SEC24C","SETBP1","SETD5","SH2B1","SHH","SKI","SMO","SMOC1","SPEN","SPRED1","STAG2","SUCLG1","SUFU","SYNGAP1","TASP1","TBX1","TBX3","TCTN1","TCTN2","TCTN3","TFAP2A","TFAP2B","TGFBR1","TGFBR2","TMCO1","TMEM107","TMEM138","TMEM216","TMEM218","TMEM231","TMEM237","TMEM67","TOGARAM1","TOPORS","TRAF3IP1","TRIM32","TTC21B","TTC26","TTC8","TWIST1","TXNDC15","UBE4B","UFD1","UQCC2","USP9X","VPS35L","WASHC5","WDPCP","WDR19","WDR35","WNT7A","ZIC3","ZNF141","ZNF423","ZNF699","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PULMONARY_INSUFFICIENCY":{"collection":"C5:HPO","systematicName":"M37536","pmid":"","exactSource":"HP:0010444","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010444","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PULMONARY_INSUFFICIENCY","geneSymbols":["ABCA3","ADA","ADAMTS19","ARSB","ATP11A","COL1A1","COL1A2","DNAL1","DPP9","DSP","EFEMP2","FAM13A","FLNA","FOXF1","GNPTAB","INVS","KIF20A","LEMD2","MUC5B","PARN","RTEL1","SFTPA1","SFTPA2","SFTPC","STN1","TERC","TERT"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_TRICUSPID_STENOSIS":{"collection":"C5:HPO","systematicName":"M41385","pmid":"","exactSource":"HP:0010446","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010446","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TRICUSPID_STENOSIS","geneSymbols":["ADAMTSL2","CHST3","FBN1","MYCN","PLD1","RPS19"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ANAL_FISTULA":{"collection":"C5:HPO","systematicName":"M43375","pmid":"","exactSource":"HP:0010447","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010447","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANAL_FISTULA","geneSymbols":["CD3G","ELF4","KDM6A","KMT2D","MNX1","NCF4","PKP1","SYK","TGFB1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ESOPHAGEAL_STENOSIS":{"collection":"C5:HPO","systematicName":"M37537","pmid":"","exactSource":"HP:0010450","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010450","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ESOPHAGEAL_STENOSIS","geneSymbols":["ACD","COL4A5","COL4A6","COL7A1","CTC1","DCLRE1B","DKC1","FERMT1","GMPPA","GRHL2","HLA-B","IKZF1","ITGA6","LAMA3","LAMB3","LAMC2","MALT1","MMP1","MYH11","NHP2","NOP10","NPM1","PARN","PGM3","RTEL1","SAMD9","TERC","TERT","TINF2","TYMS","USB1","WRAP53"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APLASIA_HYPOPLASIA_OF_THE_SPLEEN":{"collection":"C5:HPO","systematicName":"M37538","pmid":"","exactSource":"HP:0010451","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010451","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_SPLEEN","geneSymbols":["AIRE","B9D1","B9D2","BCL11A","CC2D2A","CCDC103","CCDC32","CCDC39","CCDC40","CCDC65","CCNO","CEP290","CFAP221","CFAP298","CFAP300","CFAP74","CFC1","CSPP1","DNAAF1","DNAAF11","DNAAF2","DNAAF3","DNAAF4","DNAAF5","DNAAF6","DNAH1","DNAH11","DNAH5","DNAH9","DNAI1","DNAI2","DNAJB13","DNAL1","DRC1","FAM111A","FOXF1","FOXJ1","GAS2L2","GAS8","GDF1","HBB","HBG1","HBG2","HMOX1","HYDIN","KATNB1","KLF1","LRRC56","MCIDAS","MCM10","MKS1","MNS1","MYCN","NDE1","NEK10","NEK8","NME5","NME8","NODAL","NPHP3","ODAD1","ODAD2","ODAD3","ODAD4","OFD1","ORAI1","RELN","RPGR","RPGRIP1","RPGRIP1L","RPSA","RSPH1","RSPH3","RSPH4A","RSPH9","SAMD9","SMAD2","SPAG1","SPEF2","STIM1","STK36","STRA6","TCTN1","TCTN2","TCTN3","TMEM107","TMEM216","TMEM231","TMEM237","TMEM67","TTC12","TWIST1","TXNDC15","WNT3","ZEB2","ZIC3","ZMYND10"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ACETABULAR_SPURS":{"collection":"C5:HPO","systematicName":"M37539","pmid":"","exactSource":"HP:0010454","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010454","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACETABULAR_SPURS","geneSymbols":["COL2A1","DYNC2H1","DYNC2I1","DYNLT2B","EVC","EVC2","WDR19"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_GREATER_SCIATIC_NOTCH_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M37540","pmid":"","exactSource":"HP:0010456","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010456","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_GREATER_SCIATIC_NOTCH_MORPHOLOGY","geneSymbols":["ALG9","CEP120","CFAP410","COL11A1","COL2A1","DDRGK1","DNAJC21","DYM","EXTL3","FGFR3","GPC3","GPC4","GPX4","GSC","GUSB","INTU","MATN3","PCYT1A","SBDS","SLC26A2","SRP54","TRPV4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FEMALE_PSEUDOHERMAPHRODITISM":{"collection":"C5:HPO","systematicName":"M37541","pmid":"","exactSource":"HP:0010458","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010458","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FEMALE_PSEUDOHERMAPHRODITISM","geneSymbols":["CD96","CYP19A1","FRAS1","FREM2","GRIP1","NR3C1","SPECC1L"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_TRUE_HERMAPHRODITISM":{"collection":"C5:HPO","systematicName":"M37542","pmid":"","exactSource":"HP:0010459","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010459","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TRUE_HERMAPHRODITISM","geneSymbols":["B9D1","B9D2","CC2D2A","CEP290","CSPP1","MKS1","NR5A1","RPGRIP1","RPGRIP1L","SOX9","SRY","TCTN1","TCTN2","TCTN3","TMEM107","TMEM216","TMEM231","TMEM237","TMEM67","TXNDC15","WT1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_FEMALE_GENITALIA":{"collection":"C5:HPO","systematicName":"M37543","pmid":"","exactSource":"HP:0010460","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010460","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_FEMALE_GENITALIA","geneSymbols":["ACTB","ADH5","AGPAT2","AKT1","AKT2","ALG9","ALMS1","ANOS1","ANTXR2","APC","AR","ARHGAP31","ARID1B","ARL6","ARVCF","ATIC","ATM","ATR","AURKA","AXIN1","AXIN2","B3GLCT","BARD1","BAX","BAZ1B","BBIP1","BBS1","BBS10","BBS12","BBS2","BBS4","BBS5","BBS7","BBS9","BCL7B","BCOR","BMP15","BMPR1A","BMPR1B","BNC1","BRAF","BRCA1","BRCA2","BRD4","BRIP1","BSCL2","BUB1","BUB1B","BUB3","BUD23","C14orf39","CAPN15","CASZ1","CAV1","CAVIN1","CBX2","CCDC141","CCDC28B","CCND1","CCNQ","CD96","CDC45","CDC6","CDC73","CDH1","CDKN1B","CDKN2A","CDT1","CEP152","CEP19","CEP290","CEP57","CFAP418","CHD7","CHEK2","CHRM3","CHRNG","CIDEC","CLEC7A","CLIP2","CLPP","COL1A1","COL3A1","COL4A5","COL4A6","COL5A1","COL5A2","COL7A1","COMT","COQ6","CORIN","COX7B","CPLX1","CTBP1","CTC1","CTCF","CTNNB1","CXCR4","CYB5A","CYP11A1","CYP11B1","CYP17A1","CYP19A1","DACT1","DCAF17","DCC","DDB1","DHCR24","DHCR7","DHH","DHX37","DICER1","DKC1","DLC1","DLL3","DMRT1","DMRT3","DNAJC30","DUSP6","DVL1","DVL3","DYNC2H1","DYNC2I1","DYNC2I2","DYNC2LI1","ECEL1","EIF4H","ELN","EP300","EPCAM","ERAL1","ERBB2","ERCC4","ESCO2","ESR1","ESR2","EVC","EVC2","EWSR1","F7","FAN1","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FDXR","FEZF1","FGF10","FGF17","FGF20","FGF8","FGFR1","FGFR2","FGFR3","FGFRL1","FH","FIG4","FIGLA","FKBP6","FLCN","FLI1","FLRT3","FLT1","FOS","FOXE1","FOXF1","FOXL2","FRAS1","FREM1","FREM2","FSHR","FZD2","GABRD","GAD1","GATA2","GATA3","GATA4","GFRA1","GLI1","GLI3","GMNN","GNAS","GNB2","GNRH1","GNRHR","GP1BB","GREB1L","GREM1","GRIP1","GTF2I","GTF2IRD1","GTF2IRD2","HARS2","HCCS","HDAC8","HERC2","HES7","HESX1","HFM1","HIRA","HNF1A","HNF1B","HNRNPR","HOXA13","HOXD13","HS6ST1","HSD3B2","HSPG2","HYLS1","HYMAI","IDH1","IDH2","IFT172","IFT27","IFT74","IFT80","IL10RB","IL17F","IL17RA","IL17RC","IL17RD","INSR","INTU","IPO8","IRF6","ISL1","ITGA8","JAK3","JMJD1C","KAT6B","KCNAB2","KEAP1","KIF14","KIF7","KISS1","KISS1R","KLLN","KRAS","LARS2","LEP","LEPR","LETM1","LFNG","LHB","LIG4","LIMK1","LIPE","LMNA","LMNB2","LONP1","LRP2","LUZP1","LZTFL1","LZTR1","MAD1L1","MAD2L2","MAGEL2","MAMLD1","MAP3K1","MBD4","MCC","MCM8","MDM2","MED25","MESP2","METTL27","MID1","MINPP1","MKKS","MKRN3","MKS1","MLH1","MLH3","MLXIPL","MMP14","MMP2","MMP23B","MNX1","MOGS","MRE11","MRPS22","MSH2","MSH3","MSH4","MSH5","MSH6","MSX1","MT-CYB","MTM1","MYC","MYH3","MYRF","NAB2","NBN","NCF1","NDN","NDNF","NDP","NDUFB11","NF2","NHLH2","NHP2","NIN","NIPBL","NOBOX","NOP10","NPAP1","NPHP1","NPM1","NR0B1","NR2F2","NR3C1","NR5A1","NRAS","NSD2","NSMF","NSUN2","NTHL1","NUP107","NXN","OCA2","OFD1","OPCML","ORC1","ORC4","ORC6","PALB2","PALLD","PANX1","PARN","PATL2","PAX3","PAX6","PCNT","PDE11A","PDE4D","PDGFRL","PDPN","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PHGDH","PHKA2","PHKB","PHKG2","PI4KA","PIGN","PIK3CA","PIK3R1","PLA2G2A","PLAGL1","PLG","PLIN1","PMM2","PMS1","PMS2","POC1A","POLD1","POLE","POLR1B","POLR1C","POLR1D","POLR3H","POR","PORCN","PPARG","PPP1R12A","PPP2R1A","PPP2R3C","PRDM16","PRKACA","PRKACB","PRKAR1A","PRKCZ","PRKN","PRLR","PROK2","PROKR2","PSMC3IP","PTCH1","PTEN","PTPN11","PTPN12","PTPRJ","PWAR1","PWRN1","RAB18","RAB3GAP1","RAB3GAP2","RABL3","RAC3","RAD21","RAD50","RAD51","RAD51C","RAD51D","RAD54B","RARB","RBM8A","RECQL4","RELA","RERE","RET","RFC2","RFWD3","RIPK4","RIPPLY2","RNF43","RNU12","ROR2","RPS20","RPS6KA3","RREB1","RSPO1","RSPO2","RTEL1","SALL1","SALL4","SCAPER","SCLT1","SDCCAG8","SDHB","SDHC","SDHD","SEC23B","SEC24C","SEMA3A","SEMA3E","SEMA4A","SETBP1","SETD2","SF3B4","SIM1","SKI","SLC25A24","SLC35A2","SLC37A4","SLC6A17","SLX4","SMAD3","SMAD4","SMARCA2","SMARCB1","SMC1A","SMC3","SMCHD1","SNORD115-1","SNORD116-1","SNRPN","SOHLH1","SOX10","SOX11","SOX3","SOX9","SPECC1L","SPEN","SPIDR","SPINT2","SPRED1","SPRY4","SRC","SRD5A2","SRY","STAG3","STAT6","STK11","STOX1","STRA6","STX1A","TAC3","TACR3","TALDO1","TBC1D20","TBL2","TBX1","TBX15","TBX3","TBX6","TCOF1","TCTN3","TERC","TERT","TGFBR1","TGFBR2","THOC6","TINF2","TLR2","TMEM270","TNXB","TOE1","TP53","TP63","TRAF3IP2","TRAIP","TRIM32","TRIP13","TRPV6","TSC1","TSC2","TTC8","TUBB8","TWIST2","TXNDC15","TYMS","UBE2T","UBE3B","UBE4B","UBR1","UFD1","USB1","USF3","VAC14","VAMP7","VPS37D","WDPCP","WDR11","WDR35","WEE2","WNT10A","WNT3","WNT4","WNT5A","WNT7A","WNT7B","WNT9B","WRAP53","WRN","WT1","WWOX","XRCC2","ZEB2","ZFPM2","ZFTA","ZMYM2","ZPR1","ZSWIM7"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APLASIA_HYPOPLASIA_OF_THE_OVARY":{"collection":"C5:HPO","systematicName":"M37544","pmid":"","exactSource":"HP:0010462","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010462","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_OVARY","geneSymbols":["ALG9","AR","ARL6","BBIP1","BBS1","BBS10","BBS12","BBS2","BBS4","BBS5","BBS7","BBS9","BMP15","BNC1","C14orf39","CEP19","CEP290","CFAP418","CHD7","CLPP","DCAF17","DHH","DHX37","DMRT3","DUSP6","ERAL1","FGF17","FGF8","FGFR1","FIGLA","FOXL2","FSHR","GATA4","GNRH1","GNRHR","HARS2","HFM1","HS6ST1","IFT172","IFT27","IFT74","KISS1","KISS1R","LARS2","LEP","LEPR","LZTFL1","MAP3K1","MCM8","MKKS","MKS1","MRPS22","MSH4","NDNF","NHLH2","NOBOX","NPHP1","NR0B1","NR5A1","NSMF","NUP107","PAX6","PMM2","POLR3H","PPP1R12A","PROK2","PROKR2","PSMC3IP","PTPN11","SCAPER","SCLT1","SDCCAG8","SETBP1","SOX9","SPIDR","SPRY4","SRY","STAG3","TAC3","TACR3","TP63","TRIM32","TTC8","VAMP7","WDPCP","WDR11","WT1","WWOX","ZFPM2","ZPR1","ZSWIM7"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APLASIA_OF_THE_OVARY":{"collection":"C5:HPO","systematicName":"M46175","pmid":"","exactSource":"HP:0010463","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010463","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_OF_THE_OVARY","geneSymbols":["AR","PMM2","PSMC3IP","PTPN11","TP63"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_STREAK_OVARY":{"collection":"C5:HPO","systematicName":"M37545","pmid":"","exactSource":"HP:0010464","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010464","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_STREAK_OVARY","geneSymbols":["BMP15","BNC1","CLPP","DCAF17","DHH","DHX37","DMRT3","ERAL1","FIGLA","FOXL2","FSHR","GATA4","HARS2","MAP3K1","MRPS22","MSH4","NOBOX","NR0B1","NR5A1","NUP107","PAX6","POLR3H","PPP1R12A","PSMC3IP","SETBP1","SOX9","SPIDR","SRY","STAG3","TP63","VAMP7","WT1","WWOX","ZFPM2","ZSWIM7"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PRECOCIOUS_PUBERTY_IN_FEMALES":{"collection":"C5:HPO","systematicName":"M41386","pmid":"","exactSource":"HP:0010465","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010465","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PRECOCIOUS_PUBERTY_IN_FEMALES","geneSymbols":["AGPAT2","ALMS1","BSCL2","CAV1","CAVIN1","CYP17A1","FOS","GRIA1","PPARG","TP63"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABSENT_TESTIS":{"collection":"C5:HPO","systematicName":"M37546","pmid":"","exactSource":"HP:0010469","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010469","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_TESTIS","geneSymbols":["BRCA1","BRCA2","BRIP1","DHX37","ERCC4","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","GDF6","MAD2L2","PALB2","RAD51","RAD51C","RFWD3","SLX4","TCTN3","UBE2T","XRCC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_OLIGOSACCHARIDURIA":{"collection":"C5:HPO","systematicName":"M37547","pmid":"","exactSource":"HP:0010471","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010471","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OLIGOSACCHARIDURIA","geneSymbols":["FUCA1","GAA","GLB1","MAN2B1","MANBA","NEU1","OCRL","SNX14"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CIRCULATING_PORPHYRIN_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M41387","pmid":"","exactSource":"HP:0010472","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010472","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_PORPHYRIN_CONCENTRATION","geneSymbols":["ALAD","ALAS2","CLPX","CPOX","ERCC8","FECH","GATA1","PPOX","UROD","UROS"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PORPHYRINURIA":{"collection":"C5:HPO","systematicName":"M41388","pmid":"","exactSource":"HP:0010473","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010473","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PORPHYRINURIA","geneSymbols":["CPOX","GATA1","HMBS","PPOX","SLCO1B1","SLCO1B3","UROD","UROS"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APLASIA_HYPOPLASIA_OF_THE_BLADDER":{"collection":"C5:HPO","systematicName":"M37548","pmid":"","exactSource":"HP:0010476","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010476","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_BLADDER","geneSymbols":["ALG9","CC2D2A","CCNQ","FREM2","GRIP1","ITGA6","ITGB4","LAMA3","LAMB3","LAMC2","MBTPS2","MED12","MKS1","PLEC","ROBO1","WNT4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APLASIA_OF_THE_BLADDER":{"collection":"C5:HPO","systematicName":"M46176","pmid":"","exactSource":"HP:0010477","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010477","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_OF_THE_BLADDER","geneSymbols":["CC2D2A","FREM2","ITGA6","ITGB4","PLEC"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_URETHRAL_FISTULA":{"collection":"C5:HPO","systematicName":"M46177","pmid":"","exactSource":"HP:0010480","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010480","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_URETHRAL_FISTULA","geneSymbols":["DYNC2H1","DYNC2I1","DYNC2I2","IFT80","MID1","RNU12","UBR1","WDR35"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_URETHRAL_VALVE":{"collection":"C5:HPO","systematicName":"M37549","pmid":"","exactSource":"HP:0010481","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010481","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_URETHRAL_VALVE","geneSymbols":["APC2","BNC2","CHRM3","DACT1","HNRNPH1","HPSE2","IGF2","MID1","NSD1","SALL1","SETD2","SRCAP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPEREXTENSIBILITY_AT_ELBOW":{"collection":"C5:HPO","systematicName":"M46178","pmid":"","exactSource":"HP:0010485","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010485","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPEREXTENSIBILITY_AT_ELBOW","geneSymbols":["CAMTA1","COL5A1","HYAL1","IFITM5","KMT2A","SON"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_HYPOTHENAR_EMINENCE":{"collection":"C5:HPO","systematicName":"M43376","pmid":"","exactSource":"HP:0010486","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010486","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_HYPOTHENAR_EMINENCE","geneSymbols":["AAAS","EIF4A3","FGD4","GMPPA","RPL11","TRAPPC11"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APLASIA_HYPOPLASIA_OF_THE_PALMAR_CREASES":{"collection":"C5:HPO","systematicName":"M37551","pmid":"","exactSource":"HP:0010488","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010488","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_PALMAR_CREASES","geneSymbols":["AUTS2","CHST14","DOK7","DSE","KIF21A","MUSK","MYH3","MYOD1","NALCN","NUP88","PIEZO2","PLOD3","RAPSN","RIPK4","SLC18A3","SLC39A13","TUBA1A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABSENT_PALMAR_CREASE":{"collection":"C5:HPO","systematicName":"M37552","pmid":"","exactSource":"HP:0010489","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010489","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_PALMAR_CREASE","geneSymbols":["DOK7","KIF21A","MUSK","MYH3","MYOD1","NALCN","NUP88","PIEZO2","RAPSN","RIPK4","SLC18A3","SLC39A13","TUBA1A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SIRENOMELIA":{"collection":"C5:HPO","systematicName":"M37553","pmid":"","exactSource":"HP:0010497","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010497","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SIRENOMELIA","geneSymbols":["AKT1","ATP6V1B2","DACT1","FGF20","GFRA1","GREB1L","ITGA8","PTEN","RET","TBC1D24","WNT9B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PATELLAR_SUBLUXATION":{"collection":"C5:HPO","systematicName":"M37554","pmid":"","exactSource":"HP:0010499","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010499","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PATELLAR_SUBLUXATION","geneSymbols":["COL12A1","DNMT3A","FBN2","TBC1D7","USP9X","YY1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPEREXTENSIBILITY_OF_THE_KNEE":{"collection":"C5:HPO","systematicName":"M37555","pmid":"","exactSource":"HP:0010500","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010500","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPEREXTENSIBILITY_OF_THE_KNEE","geneSymbols":["ALDH18A1","ANO5","AP4B1","AP4E1","AP4M1","AP4S1","B4GALT7","CANT1","CDT1","CFL2","CHST3","COL1A2","COL5A1","COMP","CSGALNACT1","CTDP1","ELN","FBLN5","FBN1","FGD1","FGFR3","GRIA3","HRAS","KRAS","LMX1B","MAN2C1","MCOLN1","MEFV","NRAS","ORC1","PDGFRB","PRR12","PTEN","SH3PXD2B","SKI","SLC6A9","TNFRSF1A","TRIP11","WASF1","XYLT1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LIMITATION_OF_KNEE_MOBILITY":{"collection":"C5:HPO","systematicName":"M41389","pmid":"","exactSource":"HP:0010501","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010501","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIMITATION_OF_KNEE_MOBILITY","geneSymbols":["ADGRV1","ASAH1","ATP7A","BMP1","COL2A1","COL9A3","CSGALNACT1","DPYSL5","DYM","DYSF","ECEL1","EXT1","EXT2","EZH2","FBN2","FLNA","FLNC","GABRA1","GABRD","GABRG2","GPC6","HCN1","HGD","MAP3K7","MYOT","PCDH19","SCN1A","SCN1B","SCN2A","SCN9A","STX1B","TOR1A","VCP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FIBULAR_BOWING":{"collection":"C5:HPO","systematicName":"M37556","pmid":"","exactSource":"HP:0010502","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010502","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FIBULAR_BOWING","geneSymbols":["CCDC47","CILK1","CLCN5","COL11A2","CYP27B1","CYP2R1","FGFR3","NOTCH2","PHEX","SERPINH1","SLC34A3","VDR"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LIMITATION_OF_MOVEMENT_AT_ANKLES":{"collection":"C5:HPO","systematicName":"M41390","pmid":"","exactSource":"HP:0010505","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010505","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIMITATION_OF_MOVEMENT_AT_ANKLES","geneSymbols":["FLNA","LMNA","MAP3K7","NIPA1","OCA2","UBE3A","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_METATARSUS_VALGUS":{"collection":"C5:HPO","systematicName":"M37557","pmid":"","exactSource":"HP:0010508","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010508","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_METATARSUS_VALGUS","geneSymbols":["AKT1","B3GALNT2","B4GAT1","BMPR1B","COL4A1","CRPPA","DAG1","FKRP","FKTN","GDF5","HSPG2","INPP5K","LARGE1","NAA10","POMGNT1","POMGNT2","POMK","POMT1","POMT2","PTEN","RXYLT1","SIL1","TGDS"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LONG_TOE":{"collection":"C5:HPO","systematicName":"M37558","pmid":"","exactSource":"HP:0010511","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010511","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LONG_TOE","geneSymbols":["B4GALT7","COL12A1","COL6A1","COL6A2","COL6A3","CPT2","DLK1","DPM1","FAM20C","FBN1","FIBP","FLI1","GATAD2B","GNAI1","GNE","IPO8","IRX5","KAT6B","KCNH1","KCNN3","KMT2A","KMT5B","LARS1","MEG3","NKX3-2","NPR2","NPR3","NSDHL","PAPPA2","PHF8","POLR3A","POLR3GL","PRKAR1A","PTH1R","PUF60","RTL1","SCARF2","SMARCA2","SMS","SOX5","TBX4","TMEM94","XYLT2","ZEB2","ZNF668"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPERPITUITARISM":{"collection":"C5:HPO","systematicName":"M37559","pmid":"","exactSource":"HP:0010514","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010514","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERPITUITARISM","geneSymbols":["ABCD1","AIP","AKT1","AR","BAP1","BMP15","BMPR1B","BNC1","BRAF","C14orf39","CATIP","CBX2","CCDC34","CDH23","CDKN1A","CDKN1B","CDKN2B","CDKN2C","CFTR","CLPP","CNBP","CT55","CTNNB1","CYB5A","CYP11A1","CYP17A1","DHH","DHX37","DIAPH2","DMRT3","DNAH10","DNHD1","ERCC6","ESR1","ESR2","FANCM","FBXO43","FGD1","FIGLA","FKBP6","FMR1","FOXL2","FSHB","FSHR","GATA4","GCNA","GDF9","GNAS","GPR101","HFM1","HPGD","HSD17B4","HSD3B2","IGF1","KCNJ11","KISS1R","KLHL10","LARS2","LHB","LHCGR","MAP3K1","MCM4","MCM8","MCM9","MEIOB","MEN1","MOV10L1","MRPS22","MSH4","MSH5","MSTO1","NANOS1","NF2","NR0B1","NR5A1","NSMCE2","NUP107","PDE11A","PDGFB","PDHA2","PIK3CA","PMM2","PNLDC1","POLA1","POLR3A","POLR3H","POR","PPP2R3C","PRKAR1A","PRLR","PSMC3IP","RNF212","RPL10L","SHOC1","SLCO2A1","SMARCB1","SMARCE1","SMO","SOHLH1","SOX9","SPAG17","SPIDR","SRY","STAG3","SUFU","SYCE1","SYCP3","TAF4B","TDRD9","TERB1","TERB2","TERT","TEX11","TEX14","TEX15","TP63","TRAF7","TRHR","TSHB","VAMP7","WT1","WWOX","XRCC2","ZFPM2","ZMYND15","ZSWIM7"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APLASIA_HYPOPLASIA_OF_THE_THYMUS":{"collection":"C5:HPO","systematicName":"M37560","pmid":"","exactSource":"HP:0010515","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010515","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_THYMUS","geneSymbols":["ADA","AK2","ANTXR2","ARVCF","ATM","CHD7","COMT","DCLRE1C","FREM2","G6PC3","GP1BB","HIRA","IL2RG","JMJD1C","KMT2D","LTBP4","MCM10","NEK9","NKX2-6","NSMCE3","ORAI1","PEX5","PI4KA","PLXND1","POLR1B","POLR1C","POLR1D","POLR3A","RAG1","RAG2","RORC","RREB1","SEC24C","SKIC2","SKIC3","TBX1","TBX2","TCOF1","TP63","TTC7A","UFD1","WAS","WIPF1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_THYMUS_HYPERPLASIA":{"collection":"C5:HPO","systematicName":"M41391","pmid":"","exactSource":"HP:0010516","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010516","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THYMUS_HYPERPLASIA","geneSymbols":["AKT1","ALG14","MTHFR","NUAK2","PTEN","VANGL2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DYSLEXIA":{"collection":"C5:HPO","systematicName":"M37561","pmid":"","exactSource":"HP:0010522","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010522","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DYSLEXIA","geneSymbols":["APC","CACNA1H","CHMP2B","DNAAF4","FRMD5","GABRA1","GABRB3","GABRG2","GCLC","GRN","JRK","MAP1B","MAPT","NIPA1","NIPA2","OPA3","PLA2G6","PNKP","PSEN1","SARDH","SLC2A1","SPTBN1","SQSTM1","STIM1","TCF12","TMEM106B","TREM2","TUBG1","VCP","VPS13D","VPS41"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ALEXIA":{"collection":"C5:HPO","systematicName":"M43377","pmid":"","exactSource":"HP:0010523","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010523","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ALEXIA","geneSymbols":["CHMP2B","GRN","MAPT","PSEN1","TMEM106B","TREM2","VCP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_AGNOSIA":{"collection":"C5:HPO","systematicName":"M37563","pmid":"","exactSource":"HP:0010524","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010524","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AGNOSIA","geneSymbols":["ABCA7","ABCD1","APOE","APP","ATP6AP2","BMPR1A","CEP85L","CHMP2B","EPCAM","EPRS1","FAN1","GRN","KRAS","MAPT","MLH1","MLH3","MSH2","MSH6","PIK3CA","PMS1","PMS2","PSEN1","PSEN2","RPS20","SEMA4A","SORL1","TGFBR2","TMEM106B","TOMM40","TREM2","TYROBP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FINGER_AGNOSIA":{"collection":"C5:HPO","systematicName":"M37564","pmid":"","exactSource":"HP:0010525","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010525","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FINGER_AGNOSIA","geneSymbols":["ABCA7","APP","PSEN1","PSEN2","SORL1","TOMM40","TREM2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DYSGRAPHIA":{"collection":"C5:HPO","systematicName":"M37565","pmid":"","exactSource":"HP:0010526","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010526","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DYSGRAPHIA","geneSymbols":["ABCA7","APP","BAZ1B","BCL7B","BMPR1A","BUD23","CHMP2B","CLIP2","DNAJC30","EIF4H","ELN","EPCAM","FAN1","FGF14","FKBP6","GRN","GTF2I","GTF2IRD1","GTF2IRD2","KRAS","LIMK1","MAPT","METTL27","MLH1","MLH3","MLXIPL","MSH2","MSH6","NCF1","PIK3CA","PMS1","PMS2","PSEN1","PSEN2","RFC2","RPS20","SEMA4A","SORL1","SOX6","SPG21","SQSTM1","STX1A","TBL2","TGFBR2","TMEM106B","TMEM240","TMEM270","TOMM40","TREM2","VCP","VPS37D"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_TRANSIENT_GLOBAL_AMNESIA":{"collection":"C5:HPO","systematicName":"M37567","pmid":"","exactSource":"HP:0010534","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010534","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TRANSIENT_GLOBAL_AMNESIA","geneSymbols":["AKT1","BAP1","CTSH","HCRT","HLA-DQB1","HLA-DRB1","MEN1","MOG","NF2","P2RY11","PDGFB","PIK3CA","SMARCB1","SMARCE1","SMO","SUFU","TERT","TNFSF4","TRAF7","TRANK1","YY1","ZNF365"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SLEEP_APNEA":{"collection":"C5:HPO","systematicName":"M37568","pmid":"","exactSource":"HP:0010535","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010535","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SLEEP_APNEA","geneSymbols":["ABCC9","AFF4","AGRN","AHDC1","AIP","ARCN1","ARL3","ARSB","ASCL1","ASNS","ASXL1","ATN1","ATP1A2","BICD2","BMP2","BRAF","C2CD3","CA2","CACNA1C","CACNA1I","CACNA2D1","CCDC47","CDC42BPB","CDK13","CEP57","CHAMP1","CHAT","COL13A1","COL3A1","COLQ","COQ2","CREBBP","CTNNB1","CTSK","DCTN1","DDB1","DKK1","DMD","DNA2","DPH1","DPH2","DPH5","EDN1","EP300","EXOC2","EXT2","FBXO28","FGFR2","FGFR3","FLCN","FXR1","GABRG2","GNAI3","GNE","GNPTAB","GPR101","GRB10","GRIN1","GRIN2A","GSN","GUSB","H4C5","HERC2","HRAS","IDS","IDUA","LAMB2","LARP7","LRPPRC","LRRC32","LTBP3","MAGEL2","MCM3AP","MED27","MKRN3","MOG","MRPS34","MYO9A","NACC1","NADK2","NALCN","NCAPG2","NDN","NDUFAF2","NDUFS2","NEFH","NFIX","NGLY1","NONO","NOTCH3","NPAP1","OCA2","P4HTM","PCGF2","PHOX2B","PIGT","PLCB4","POGZ","PRKAR1B","PRMT7","PRPH","PRPS1","PRR12","PWAR1","PWRN1","RAB11B","RAI1","RECQL4","RERE","RET","RPS6KA3","RUNX2","SATB2","SH3BP2","SIM1","SIN3A","SKI","SLC18A3","SLC25A1","SLC5A7","SNAP25","SNORD115-1","SNORD116-1","SNRPN","SOD1","SPOP","SRPX2","SYT1","SYT2","TCF4","TERT","TNNT1","TRPV4","TSPYL1","TWIST1","UNC80","USP7","VAMP1","VPS51","ZBTB7A","ZMYM2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CENTRAL_SLEEP_APNEA":{"collection":"C5:HPO","systematicName":"M37569","pmid":"","exactSource":"HP:0010536","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010536","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CENTRAL_SLEEP_APNEA","geneSymbols":["AGRN","ASCL1","CACNA1C","CACNA1I","CCDC47","CDK13","CHAT","COL13A1","COQ2","DKK1","FBXO28","FGFR3","LRPPRC","MAGEL2","MYO9A","NADK2","NGLY1","PHOX2B","PIGT","PRPS1","RET","SIM1","SLC18A3","SLC25A1","SLC5A7","SNAP25","SYT2","USP7","VAMP1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_WIDE_CRANIAL_SUTURES":{"collection":"C5:HPO","systematicName":"M37570","pmid":"","exactSource":"HP:0010537","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010537","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WIDE_CRANIAL_SUTURES","geneSymbols":["ACE","AGO2","AGT","AGTR1","ALDH18A1","ALPL","BANF1","CRTAP","CYP27B1","CYP2R1","DCHS1","FAT4","FIG4","GJA1","LMNA","MED12","MMP2","MSX2","PEX1","POLR3A","RBM10","REN","SEC24D","SETBP1","SLC34A3","TRPV6","VAC14","VDR","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_OPSOCLONUS":{"collection":"C5:HPO","systematicName":"M37571","pmid":"","exactSource":"HP:0010543","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010543","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OPSOCLONUS","geneSymbols":["CLCN7","FRMD5","GBA1","KIF1B","SNX10","TCIRG1","TMEM240","TNFSF11"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_VERTICAL_NYSTAGMUS":{"collection":"C5:HPO","systematicName":"M37572","pmid":"","exactSource":"HP:0010544","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010544","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VERTICAL_NYSTAGMUS","geneSymbols":["AHDC1","ALX4","ANO10","ATP1A2","CACNA1A","COQ2","ECHS1","FAT2","FGF14","MRE11","NDUFS8","PET100","PEX5","PIGN","PIGQ","PLA2G6","PRRT2","RFC1","SCN1A","TMEM106B","TTBK2","TTR"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DOWNBEAT_NYSTAGMUS":{"collection":"C5:HPO","systematicName":"M46179","pmid":"","exactSource":"HP:0010545","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010545","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DOWNBEAT_NYSTAGMUS","geneSymbols":["ANO10","CACNA1A","COQ2","FAT2","FGF14","PLA2G6","RFC1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MUSCLE_FIBRILLATION":{"collection":"C5:HPO","systematicName":"M37573","pmid":"","exactSource":"HP:0010546","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010546","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MUSCLE_FIBRILLATION","geneSymbols":["ADPRS","AGTPBP1","AIFM1","ASAH1","ATP11A","ATP1A2","ATXN10","ATXN3","BIN1","CACNA1A","CCNF","CFL2","CHCHD10","DENND5A","DNM2","DYSF","EGR2","EXOSC3","EXOSC8","EXOSC9","FXR1","GARS1","GYG1","HINT1","HSPB1","IFRD1","KCNK9","LGI3","MEGF10","MPZ","MTMR14","MYF6","NDUFS4","NOP56","OPTN","PMP22","POLG","PRRT2","PRUNE1","PRX","RMND1","RYR1","SBF1","SCN1A","SETX","SH3TC2","SLC25A21","SLC25A46","SLC52A2","SLC52A3","SMN1","SMN2","SPTLC1","SYT2","TBC1D24","TBCD","TFG","TOE1","TRAK1","TSPYL1","TTC19","TWNK","UBA1","VCP","VRK1","VWA1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MUSCLE_FLACCIDITY":{"collection":"C5:HPO","systematicName":"M37574","pmid":"","exactSource":"HP:0010547","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010547","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MUSCLE_FLACCIDITY","geneSymbols":["CACNA1S","COL1A1","COL1A2","GABRA3","INPP5K","KCNE3","KCNJ18","KCNJ2","KCNJ5","LAMP2","PEX1","PEX6","PLEC","SCN4A","SIL1","UBE3B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PERCUSSION_MYOTONIA":{"collection":"C5:HPO","systematicName":"M37575","pmid":"","exactSource":"HP:0010548","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010548","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERCUSSION_MYOTONIA","geneSymbols":["ATP2A1","CAV3","CAVIN1","CLCN1","COX11","DNAJB6","HINT1","HSPG2","SCN4A","SVIL"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_WEAKNESS_DUE_TO_UPPER_MOTOR_NEURON_DYSFUNCTION":{"collection":"C5:HPO","systematicName":"M37576","pmid":"","exactSource":"HP:0010549","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010549","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WEAKNESS_DUE_TO_UPPER_MOTOR_NEURON_DYSFUNCTION","geneSymbols":["AARS1","AASS","ABCA12","ABCC6","ABCD1","ABHD16A","ADA2","ADAR","ADGRG1","ADSL","AFF3","AFG3L2","AGR2","AGTPBP1","AIFM1","AIMP1","AIPL1","AKT1","AKT3","ALDH18A1","ALDH3A2","ALG3","ALS2","AMACR","AMFR","AMPD2","ANGPTL6","ANOS1","AP4B1","AP4E1","AP4M1","AP4S1","AP5Z1","APOE","ARFGEF2","ARG1","ARHGAP31","ARL6IP1","ARNT2","ARSA","ARSI","ARX","ASAH1","ATL1","ATP13A2","ATP1A2","ATP1A3","ATP5F1A","ATP5F1D","ATP5F1E","ATP5MC3","ATP5MK","ATP6AP2","ATP6V1A","ATPAF1","ATPAF2","ATRX","AUH","B3GALNT2","B3GALT6","B4GALNT1","BAP1","BCAP31","BCAS3","BCOR","BMPR1A","BSCL2","BTD","BUB1B","C19orf12","C4A","C9orf72","CA2","CACNA1A","CACNA1D","CACNA1S","CAPN1","CARS1","CARS2","CASZ1","CBS","CCDC141","CCDC88C","CCR1","CCT5","CEP290","CFH","CFHR1","CFHR3","CHCHD10","CHD7","CKAP2L","CLTC","COA8","COASY","COL3A1","COL4A1","COL4A2","COQ2","CPT1A","CPT1C","CRB1","CRPPA","CRX","CTC1","CTLA4","CYP26C1","CYP27A1","CYP2U1","CYP7B1","DCC","DDHD1","DDHD2","DLL4","DNASE1L3","DNM1L","DOCK6","DOCK8","DOLK","DPYD","DSTYK","DUSP6","DYM","EARS2","EDNRB","EIF2S3","ELOVL1","ENG","ENPP1","ENTPD1","EOGT","EPCAM","ERAP1","ERCC2","ERCC3","ERLIN2","EXOSC8","FA2H","FAN1","FAR1","FARS2","FAS","FBLN1","FEZF1","FGF17","FGF8","FGFR1","FKRP","FKTN","FLRT1","FLRT3","FUCA1","FUS","GABRA3","GABRD","GAD1","GALC","GAMT","GAN","GBA1","GBA2","GBE1","GDF3","GDF6","GFAP","GIPC1","GJA1","GJB1","GJC2","GM2A","GMPPB","GNAQ","GNB1","GON7","GOT2","GPT2","GSS","GTF2E2","GTF2H5","GUCY1A1","GUCY2D","GUF1","HACE1","HESX1","HINT1","HLA-B","HLA-DPA1","HLA-DPB1","HLA-DQB1","HMGCL","HPDL","HPRT1","HRAS","HS6ST1","HSD17B10","HSPD1","HSPG2","HTRA1","IBA57","IDUA","IFIH1","IFNGR1","IFT140","IKBKG","IL10","IL12A","IL12A-AS1","IL17RD","IL23R","IMPDH1","INTS8","IQCB1","IRAK1","KCNAB2","KCNJ13","KCNJ18","KCNJ6","KCNQ2","KCNT1","KDM5C","KIDINS220","KIF1A","KIF5A","KLC2","KLRC4","KPNA3","KRAS","KY","L1CAM","L2HGDH","LAGE3","LAMB1","LARGE1","LCA5","LIMS2","LIPT1","LIPT2","LMNB1","LMX1B","LRAT","LRP12","LRP4","LSM11","LUZP1","LYRM7","LYST","MAG","MAN2B1","MARS1","MC2R","MECP2","MED13L","MEFV","MEOX1","MFSD2A","MICOS13","MLH1","MLH3","MMP23B","MMUT","MOCS1","MPLKIP","MRAP","MRM2","MSH2","MSH6","MT-ATP6","MT-ATP8","MT-CO1","MT-CO2","MT-CO3","MT-CYB","MT-ND1","MT-ND4","MT-ND5","MT-ND6","MT-TC","MT-TF","MT-TH","MT-TK","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TV","MT-TW","MTHFR","MTOR","MTPAP","MTRFR","NADK2","NAGA","NAGS","NAXE","NDNF","NDUFA8","NDUFS3","NEK1","NEXMIF","NF1","NF2","NFU1","NHLRC2","NIPA1","NMNAT1","NNT","NOTCH1","NOTCH2NLC","NOTCH3","NPPA","NT5C2","NUP107","NUP133","NUP54","NUP62","OPA1","OPA3","OSGEP","OTX2","PAFAH1B1","PAH","PAX3","PCYT1A","PDGFB","PDGFRB","PDHX","PDPN","PEX16","PEX3","PEX7","PGAP1","PHACTR1","PHYH","PI4KA","PIK3CA","PLA2G6","PLP1","PMS1","PMS2","PNKP","PNP","PNPLA6","POLG","POLR3GL","POLR3K","POMGNT1","POMT1","POMT2","PPOX","PPP1R15B","PRDM16","PRDM8","PRF1","PRKCZ","PRNP","PROK2","PROKR2","PRORP","PRPS1","PRRT2","PRTN3","PRUNE1","PSAP","PSAT1","PSEN1","PTEN","PTPN22","RAB3GAP2","RANBP2","RASA1","RBPJ","RD3","RDH12","REEP1","REEP2","RERE","RHOBTB2","RILPL1","RNASEH2A","RNASEH2B","RNASEH2C","RNF113A","RNF170","RNF216","RNF220","RNU7-1","RPE65","RPGRIP1","RPS20","RRM2B","RTN2","SAMD9","SAMHD1","SARDH","SAT1","SCN1A","SCN5A","SDHA","SDHAF1","SDHB","SDHD","SELENOI","SEMA3A","SEMA4A","SETX","SKI","SLC12A6","SLC16A2","SLC18A2","SLC19A3","SLC1A2","SLC1A3","SLC25A10","SLC25A15","SLC2A1","SLC30A10","SLC33A1","SLC35A2","SMARCAL1","SMARCB1","SMARCE1","SMC1A","SMO","SNORD118","SOD1","SOX10","SOX2","SOX3","SOX4","SP110","SPART","SPAST","SPATA5L1","SPATA7","SPEN","SPG11","SPG21","SPG7","SPOP","SPP1","SPRY4","SQSTM1","SRPX2","STAMBP","STAR","STAT4","STXBP1","SUFU","SUOX","TACO1","TACR3","TARDBP","TARS1","TBC1D24","TBCD","TBCE","TBK1","TBX1","TECPR2","TERT","TFG","TGFBR2","TGFBR3","THSD1","TLR3","TLR4","TMEM222","TNFRSF11A","TNR","TOE1","TP53","TP53RK","TPP2","TPRKB","TRAF7","TRAPPC2L","TRAPPC4","TREX1","TRMT10A","TSC1","TSC2","TTC19","TTPA","TTR","TUBB2B","TUBB4B","TULP1","TXNRD2","UBAC2","UBAP1","UBE4B","UCHL1","UGP2","USP45","USP8","VAMP1","VCP","VPS37A","WASHC5","WDR11","WDR4","WDR45","WDR45B","WDR48","WDR62","WDR73","YRDC","ZFR","ZFYVE26","ZFYVE27"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PARAPLEGIA":{"collection":"C5:HPO","systematicName":"M37577","pmid":"","exactSource":"HP:0010550","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010550","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PARAPLEGIA","geneSymbols":["ABCA12","ABCD1","ABHD16A","AIFM1","ALDH18A1","ALS2","AMFR","AMPD2","ANOS1","AP4B1","AP4E1","AP4M1","AP4S1","AP5Z1","ARL6IP1","ARSI","ATL1","ATP13A2","ATP5F1A","ATP5F1D","ATP5F1E","ATP5MC3","ATP5MK","ATPAF1","ATPAF2","ATRX","B3GALT6","B4GALNT1","BSCL2","C19orf12","CACNA1D","CAPN1","CCDC141","CCT5","CHD7","CKAP2L","CPT1C","CYP2U1","CYP7B1","DCC","DDHD1","DDHD2","DNM1L","DSTYK","DUSP6","ELOVL1","ENTPD1","ERLIN2","FA2H","FARS2","FEZF1","FGF17","FGF8","FGFR1","FLRT1","FLRT3","GAN","GBA1","GBA2","GBE1","GIPC1","GJC2","GPT2","HACE1","HESX1","HPDL","HS6ST1","HSPD1","IBA57","IL17RD","INTS8","KDM5C","KIDINS220","KIF1A","KIF5A","KLC2","KPNA3","KY","L1CAM","LAMB1","LRP12","LYST","MAG","MAN2B1","MARS1","MECP2","MT-ATP6","MT-ATP8","MTRFR","NAGS","NDNF","NIPA1","NOTCH2NLC","NT5C2","OPA1","PAH","PAX3","PDHX","PEX3","PGAP1","PI4KA","PLP1","PNPLA6","PROK2","PROKR2","RAB3GAP2","RASA1","REEP1","REEP2","RILPL1","RNASEH2B","RNF170","RNF220","RTN2","SAMD9","SELENOI","SEMA3A","SETX","SLC16A2","SLC25A15","SLC2A1","SLC33A1","SOX10","SP110","SPART","SPAST","SPG11","SPG21","SPG7","SPRY4","STXBP1","TACR3","TECPR2","TFG","TOE1","TTR","UBAP1","UCHL1","USP8","VAMP1","VCP","VPS37A","WASHC5","WDR11","WDR45B","WDR48","ZFR","ZFYVE26","ZFYVE27"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PARAPLEGIA_PARAPARESIS":{"collection":"C5:HPO","systematicName":"M37578","pmid":"","exactSource":"HP:0010551","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010551","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PARAPLEGIA_PARAPARESIS","geneSymbols":["AARS1","ABCA12","ABCD1","ABHD16A","ADAR","ADGRG1","AFG3L2","AIFM1","AIMP1","ALDH18A1","ALDH3A2","ALS2","AMFR","AMPD2","ANOS1","AP4B1","AP4E1","AP4M1","AP4S1","AP5Z1","ARG1","ARL6IP1","ARSI","ASAH1","ATL1","ATP13A2","ATP5F1A","ATP5F1D","ATP5F1E","ATP5MC3","ATP5MK","ATP6AP2","ATPAF1","ATPAF2","ATRX","B3GALT6","B4GALNT1","BCOR","BSCL2","BTD","C19orf12","C9orf72","CACNA1D","CAPN1","CARS1","CCDC141","CCDC88C","CCT5","CHCHD10","CHD7","CKAP2L","CLTC","COASY","CPT1C","CYP27A1","CYP2U1","CYP7B1","DCC","DDHD1","DDHD2","DNM1L","DSTYK","DUSP6","EDNRB","ELOVL1","ENTPD1","ERCC2","ERCC3","ERLIN2","FA2H","FAR1","FARS2","FEZF1","FGF17","FGF8","FGFR1","FLRT1","FLRT3","FUS","GALC","GAMT","GAN","GBA1","GBA2","GBE1","GFAP","GIPC1","GJA1","GJB1","GJC2","GOT2","GPT2","GTF2E2","GTF2H5","HACE1","HESX1","HPDL","HS6ST1","HSPD1","IBA57","IDUA","IFIH1","IL17RD","INTS8","KDM5C","KIDINS220","KIF1A","KIF5A","KLC2","KPNA3","KY","L1CAM","LAMB1","LRP12","LSM11","LYST","MAG","MAN2B1","MARS1","MECP2","MED13L","MICOS13","MPLKIP","MT-ATP6","MT-ATP8","MTHFR","MTPAP","MTRFR","NAGS","NDNF","NF1","NIPA1","NOTCH2NLC","NT5C2","OPA1","OPA3","PAH","PAX3","PDHX","PEX16","PEX3","PGAP1","PI4KA","PLP1","PNP","PNPLA6","POLG","POLR3GL","PPP1R15B","PROK2","PROKR2","PRPS1","PRUNE1","RAB3GAP2","RASA1","REEP1","REEP2","RILPL1","RNASEH2A","RNASEH2B","RNASEH2C","RNF113A","RNF170","RNF220","RNU7-1","RTN2","SAMD9","SAMHD1","SDHA","SDHAF1","SDHB","SDHD","SELENOI","SEMA3A","SETX","SLC16A2","SLC19A3","SLC25A15","SLC2A1","SLC30A10","SLC33A1","SOX10","SP110","SPART","SPAST","SPG11","SPG21","SPG7","SPRY4","SQSTM1","SRPX2","STXBP1","TACR3","TARDBP","TARS1","TBCE","TBK1","TECPR2","TFG","TNFRSF11A","TOE1","TREX1","TRMT10A","TTC19","TTR","UBAP1","UCHL1","USP8","VAMP1","VCP","VPS37A","WASHC5","WDR11","WDR45","WDR45B","WDR48","ZFR","ZFYVE26","ZFYVE27"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_OCULOGYRIC_CRISIS":{"collection":"C5:HPO","systematicName":"M37579","pmid":"","exactSource":"HP:0010553","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010553","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OCULOGYRIC_CRISIS","geneSymbols":["ACTB","ATP13A2","DDC","DNAJC12","DNM1L","GRIN1","PCBD1","PTS","SLC18A2","SLC6A3","SPR","TH","TSPOAP1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CUTANEOUS_FINGER_SYNDACTYLY":{"collection":"C5:HPO","systematicName":"M37580","pmid":"","exactSource":"HP:0010554","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010554","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CUTANEOUS_FINGER_SYNDACTYLY","geneSymbols":["CACNA1C","CCBE1","CDH11","CHSY1","CHUK","DCHS1","FAT4","FGFR2","FRAS1","GJA1","GLI3","H4C9","HOXD13","IRF6","KAT6A","KCTD1","LMBR1","LRP4","MEGF8","MYH3","NECTIN1","NECTIN4","NOG","ORC1","PAX3","PIEZO2","PPP2R3C","PTDSS1","ROR2","SETBP1","TP63","TWIST1","TWIST2","WDR19"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_OVERLAPPING_FINGERS":{"collection":"C5:HPO","systematicName":"M37581","pmid":"","exactSource":"HP:0010557","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010557","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OVERLAPPING_FINGERS","geneSymbols":["ALG12","ATN1","BICD2","BLTP1","CHST11","CNTN1","COASY","COG7","CTU2","DOK7","EBP","EVC","EVC2","FLNA","MADD","MECOM","MED25","MOGS","MYBPC1","MYH3","MYOD1","NALCN","NEK9","OTUD5","PI4KA","PLOD3","PPP1R21","PRKDC","PTF1A","SAMD9","SETBP1","TMEM94","TNNI2","TNNT3","TPM2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_KELOIDS":{"collection":"C5:HPO","systematicName":"M41392","pmid":"","exactSource":"HP:0010562","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010562","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_KELOIDS","geneSymbols":["APC","ATP7A","COL17A1","COL7A1","CREBBP","EP300","FLNA","LEMD3","MAP3K7","NOTCH3","OCRL","PDGFRB"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BIFID_EPIGLOTTIS":{"collection":"C5:HPO","systematicName":"M37582","pmid":"","exactSource":"HP:0010564","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010564","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BIFID_EPIGLOTTIS","geneSymbols":["DYNC2H1","DYNC2I1","DYNC2I2","FOXE1","GLI3","IFT80","WDR35"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APLASIA_HYPOPLASIA_OF_THE_EPIGLOTTIS":{"collection":"C5:HPO","systematicName":"M37583","pmid":"","exactSource":"HP:0010565","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010565","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_EPIGLOTTIS","geneSymbols":["C2CD3","CILK1","DYNC2LI1","EIF4A3","FGF10","FGFR2","FGFR3","FREM2","GLI3","NEK1","PRRX1","SETBP1","SF3B4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HAMARTOMA":{"collection":"C5:HPO","systematicName":"M37584","pmid":"","exactSource":"HP:0010566","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010566","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HAMARTOMA","geneSymbols":["ACTB","ACVR1","AKT1","APC","BMPR1A","CCND1","CDC73","CDKN1B","CPLANE1","DIS3L2","DLST","DYNC2LI1","FAM149B1","FGF3","FH","GCDH","GLI3","GREM1","IFNG","KIAA0753","KIF1B","KIF7","KLLN","KRT1","KRT10","MAN2C1","MAX","MDH2","MSH3","MSH6","MVK","NEK9","NF1","NF2","OFD1","PDE6D","PIK3CA","PTCH1","PTEN","RET","SDHA","SDHAF2","SDHB","SDHC","SDHD","SEC23B","SIX6","SLC25A11","SMAD4","SMO","SOX2","SPRED1","STK11","TCTN3","TFAP2A","TIAM1","TMEM127","TMEM216","TOPORS","TSC1","TSC2","USF3","VHL","VPS16"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HAMARTOMA_OF_THE_EYE":{"collection":"C5:HPO","systematicName":"M37585","pmid":"","exactSource":"HP:0010568","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010568","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HAMARTOMA_OF_THE_EYE","geneSymbols":["AKT1","CCND1","DLST","FH","IFNG","KIF1B","KLLN","KRT1","KRT10","MAX","MDH2","MSH6","NF1","NF2","PIK3CA","PTEN","RET","SDHA","SDHAF2","SDHB","SDHC","SDHD","SEC23B","SLC25A11","SPRED1","TMEM127","TSC1","TSC2","USF3","VHL"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DYSPLASIA_OF_THE_FEMORAL_HEAD":{"collection":"C5:HPO","systematicName":"M41393","pmid":"","exactSource":"HP:0010575","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010575","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DYSPLASIA_OF_THE_FEMORAL_HEAD","geneSymbols":["B3GALT6","COL2A1","HSPA9","IHH","MTX2","TRAPPC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABSENT_EPIPHYSES":{"collection":"C5:HPO","systematicName":"M37587","pmid":"","exactSource":"HP:0010577","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010577","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_EPIPHYSES","geneSymbols":["ADAMTSL2","CANT1","CDC6","CHST3","COG1","COL11A2","COL2A1","COMP","DYM","EXTL3","GLB1","HS2ST1","IFT140","KIF22","LONP1","MATN3","PIK3C2A","PLOD3","RNU4ATAC","SMARCAL1","TRAPPC2","TRPV4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CONE_SHAPED_EPIPHYSIS":{"collection":"C5:HPO","systematicName":"M37588","pmid":"","exactSource":"HP:0010579","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010579","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONE_SHAPED_EPIPHYSIS","geneSymbols":["AIFM1","ATR","ATRIP","BGN","BMPR1B","CDC42BPB","CENPE","CENPJ","CEP120","CEP152","CEP164","CEP290","COG4","COL2A1","COMP","CSPP1","DNA2","DYM","DYNC2H1","DYNC2I1","DYNC2I2","DYNC2LI1","EIF2AK3","EVC","EVC2","EXT1","FBN1","FGF9","FGFR3","FLNA","GDF5","GPX4","IFT140","IFT172","IFT52","IFT80","IHH","INVS","IQCB1","KIAA0586","KIAA0753","KIF15","KNSTRN","MAP3K7","MIA3","MIR140","MRPS28","NEK1","NOG","NPHP1","NPHP3","NPHP4","NPR2","NSMCE2","NUP85","OFD1","PCNT","PDE3A","PDE4D","PIK3CD","PLK4","POC1A","PRKAR1A","RAD21","RBBP8","RMRP","RSPRY1","RUNX2","SDCCAG8","SHOX","SMAD4","SRCAP","TBC1D2B","TRAF3IP1","TRAIP","TRIP11","TRPS1","TRPV4","TTC21B","WDR19","ZMIZ1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ENLARGED_EPIPHYSES":{"collection":"C5:HPO","systematicName":"M37589","pmid":"","exactSource":"HP:0010580","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010580","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ENLARGED_EPIPHYSES","geneSymbols":["CCN6","CKAP2L","CLCN5","COG4","COL10A1","COL11A2","COL2A1","CYP27B1","CYP2R1","GDF5","NKX3-2","PIK3R1","SLC34A3","TRAPPC2","VDR"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_IRREGULAR_EPIPHYSES":{"collection":"C5:HPO","systematicName":"M37590","pmid":"","exactSource":"HP:0010582","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010582","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IRREGULAR_EPIPHYSES","geneSymbols":["ACAN","ADAMTSL2","BPNT2","CDC6","CHST3","COL11A1","COL2A1","COL9A1","COL9A2","COL9A3","COMP","DYM","KIF22","MATN3","NANS","NMNAT1","PEX5","RNU4ATAC","RPL13","SIK3","SLC26A2","TRAPPC2","TRIP11","TRPV4","UFSP2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_IVORY_EPIPHYSES":{"collection":"C5:HPO","systematicName":"M37591","pmid":"","exactSource":"HP:0010583","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010583","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IVORY_EPIPHYSES","geneSymbols":["ATR","EIF2AK3","ERCC6","ERCC8","PCNT","PCYT1A","SRCAP","TONSL","TRPS1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PSEUDOEPIPHYSES":{"collection":"C5:HPO","systematicName":"M37592","pmid":"","exactSource":"HP:0010584","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010584","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PSEUDOEPIPHYSES","geneSymbols":["BMPR1B","COG4","CPLX1","CTBP1","FGFRL1","GDF5","HOXA13","KCNH1","LETM1","MAP3K7","NKX3-2","NPR3","NSD2","PCNT","PTH1R","RAB23","RPS6KA3","SALL1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SMALL_EPIPHYSES":{"collection":"C5:HPO","systematicName":"M37593","pmid":"","exactSource":"HP:0010585","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010585","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SMALL_EPIPHYSES","geneSymbols":["AIFM1","CHST3","COL11A1","COL2A1","COL9A1","COL9A2","COL9A3","COMP","DLK1","EIF2AK3","KIF22","MATN3","MEG3","MMP13","NANS","RMRP","RNU4ATAC","RSPRY1","RTL1","SLC10A7","SLC35B2","TMEM67","TONSL","TRIP11"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_TYPE_2_MUSCLE_FIBER_PREDOMINANCE":{"collection":"C5:HPO","systematicName":"M43378","pmid":"","exactSource":"HP:0010602","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010602","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TYPE_2_MUSCLE_FIBER_PREDOMINANCE","geneSymbols":["ALG14","CLCN6","COQ5","DYNC1H1","FBXL4","KY","OBSCN","POLRMT"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SKIN_TAGS":{"collection":"C5:HPO","systematicName":"M37594","pmid":"","exactSource":"HP:0010609","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010609","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SKIN_TAGS","geneSymbols":["AKT1","ALX1","ALX3","ANKRD11","ANTXR1","ARID1B","B3GLCT","BCOR","BRF1","CCDC22","CHD7","CHN1","COL2A1","CPLX1","CTBP1","CTNND2","DACT1","DPYSL5","EDN1","EDNRA","EFTUD2","EXT2","EYA1","FGF3","FGFR1","FGFR2","FGFR3","FGFRL1","FLCN","FLNB","FN1","GNAI3","GPC3","GPC4","H4C3","H4C5","H4C9","HNRNPU","IRX5","KDM6A","KIF7","KMT2D","KRAS","LETM1","LRP5","MAFB","MED12","MED13L","MSL3","NAA10","NSD2","NSMCE2","ODC1","PIGS","PIK3CA","PLCB4","POLR1B","POLR1C","POLR1D","PRMT7","PTCH1","PTEN","PUF60","RIPK4","SALL1","SALL4","SEMA3E","SEMA5A","SF3B2","SF3B4","SIX1","SIX5","SMARCA2","SNRPN","STAG2","SVBP","TASP1","TCOF1","TMEM260","TXNL4A","UBE3B","VPS13B","VPS35L","WASHC5","WBP11","WLS","ZNF668"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PALMAR_PITS":{"collection":"C5:HPO","systematicName":"M37595","pmid":"","exactSource":"HP:0010610","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010610","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PALMAR_PITS","geneSymbols":["ATP2A2","CIB1","KRT5","POFUT1","POGLUT1","PSENEN","PTCH1","PTCH2","SUFU"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ANGIOFIBROMAS":{"collection":"C5:HPO","systematicName":"M37596","pmid":"","exactSource":"HP:0010615","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010615","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANGIOFIBROMAS","geneSymbols":["AKT1","CDKN1A","CDKN1B","CDKN2B","CDKN2C","HRAS","IFNG","KLLN","KRAS","KRT17","MEN1","MLH1","MSH2","MSH6","NRAS","PIK3CA","PLCD1","PTEN","SDHB","SDHC","SDHD","SEC23B","SUFU","TSC1","TSC2","USF3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FIBROADENOMA_OF_THE_BREAST":{"collection":"C5:HPO","systematicName":"M37597","pmid":"","exactSource":"HP:0010619","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010619","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FIBROADENOMA_OF_THE_BREAST","geneSymbols":["AKT1","APC","CASP10","FAS","FASLG","PDE11A","PRKAR1A","PRKCD","PRLR","PTEN","RASGRP1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MALAR_PROMINENCE":{"collection":"C5:HPO","systematicName":"M37598","pmid":"","exactSource":"HP:0010620","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010620","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MALAR_PROMINENCE","geneSymbols":["CTDP1","HBB","HDAC8","LAS1L","NBN","NSMCE2","XRCC4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CUTANEOUS_SYNDACTYLY_OF_TOES":{"collection":"C5:HPO","systematicName":"M37599","pmid":"","exactSource":"HP:0010621","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010621","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CUTANEOUS_SYNDACTYLY_OF_TOES","geneSymbols":["ATP9A","BCOR","CACNA1C","CAMTA1","CREBBP","DEAF1","DHCR7","DYRK1A","EP300","FAT4","FGF16","FGF9","GABRA3","GJA1","IQCE","MAP3K20","MCTP2","MECP2","MYH8","NECTIN1","NECTIN4","NOG","PRKD1","RPL10","SCARF2","SLC39A8","SMARCAD1","SMOC1","SVBP","TP63","TRRAP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NEOPLASM_OF_THE_SKELETAL_SYSTEM":{"collection":"C5:HPO","systematicName":"M37600","pmid":"","exactSource":"HP:0010622","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010622","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_SKELETAL_SYSTEM","geneSymbols":["AAGAB","ACAN","ACP5","ADA2","ADAR","AKT1","ALX4","ANAPC1","APC","ATP7A","BMPR1A","CDKN2A","CHEK2","CHRNG","COL11A2","COL14A1","COL2A1","EPCAM","EXT1","EXT2","FAN1","FGFR1","FGFR3","GATA1","GLI3","HEATR3","IDH1","IDH2","IFIH1","IFNG","IPO8","KRAS","LMNA","LSM11","MAD1L1","MDM2","MLH1","MLH3","MSH2","MSH6","MSX2","MTAP","NFATC2","NR4A3","PDE11A","PHF21A","PIK3CA","PMS1","PMS2","POLR1B","POLR1C","POLR1D","PORCN","PRKAR1A","PTEN","PTH1R","PTPN11","RAD21","RB1","RECQL4","RNASEH2A","RNASEH2B","RNASEH2C","RNU7-1","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS7","SAMHD1","SEMA4A","SHOX","SOX6","SQSTM1","TAF15","TCOF1","TGFBR2","TP53","TREX1","TRPS1","TSC1","TSC2","TSR2","WRN"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APLASTIC_HYPOPLASTIC_TOENAIL":{"collection":"C5:HPO","systematicName":"M37601","pmid":"","exactSource":"HP:0010624","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010624","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASTIC_HYPOPLASTIC_TOENAIL","geneSymbols":["AFF4","APC","ARHGAP31","ARID1A","ARID1B","ARID2","ATP6V1B2","BAZ1B","BCL7B","BCR","BUD23","CKAP2L","CLIP2","COL11A1","COL7A1","CPT2","CRKL","CTC1","DKC1","DLL4","DNAJC30","DOCK6","DPF2","DPH1","DPH2","DSP","DYNC2LI1","EED","EIF4H","EIF5A","ELN","EOGT","EVC","EVC2","EZH2","FGFR1","FKBP6","FTO","GDF5","GLI1","GPC4","GTF2I","GTF2IRD1","GTF2IRD2","HOXA13","HRAS","INPPL1","JUP","KCNH1","KCNN3","KDM1A","KRT14","KRT5","LIG4","LIMK1","LRP4","MAPK1","METTL27","MLXIPL","MSX1","NCF1","NECTIN4","NHP2","NOG","NOP10","NOTCH1","NPM1","NSD1","NSUN2","ODC1","PARN","PIGF","PORCN","PPP1CB","PPP2R5D","PRKACA","PRKACB","RBPJ","RFC2","RIPK4","RTEL1","SCO2","SET","SHANK3","SHOC2","SHOX","SLC35D1","SMARCA2","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SOX11","SOX4","STX1A","SUZ12","TBC1D24","TBL2","TBX3","TBX4","TCTN3","TELO2","TERC","TERT","TINF2","TMEM270","TYMS","USB1","VPS37D","WLS","WNT7A","WRAP53","ZIC3","ZMYM2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ANTERIOR_PITUITARY_DYSGENESIS":{"collection":"C5:HPO","systematicName":"M37602","pmid":"","exactSource":"HP:0010625","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010625","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANTERIOR_PITUITARY_DYSGENESIS","geneSymbols":["ARNT2","CDC42BPB","DMXL2","FGFR1","FOXA2","GATA6","GH1","GHRHR","GLI2","HESX1","HID1","LHX3","LHX4","MADD","MAGEL2","MTHFR","NDN","NONO","OCA2","OTX2","POU1F1","POU3F4","PROKR2","PROP1","PTDSS1","RBM28","RNPC3","ROBO1","SIX3","SIX6","SNRPN","SOX2","SOX3","TBX3","TTC26","VANGL2","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ANTERIOR_PITUITARY_AGENESIS":{"collection":"C5:HPO","systematicName":"M37603","pmid":"","exactSource":"HP:0010626","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010626","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANTERIOR_PITUITARY_AGENESIS","geneSymbols":["FOXA2","GATA6","GLI2","HESX1","LHX4","OTX2","POU1F1","PROP1","ROBO1","SIX3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_EPIPHYSES_OF_THE_FEET":{"collection":"C5:HPO","systematicName":"M41394","pmid":"","exactSource":"HP:0010631","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010631","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_EPIPHYSES_OF_THE_FEET","geneSymbols":["ARSL","COL9A1","COL9A2","COL9A3","EIF2AK3","MATN3","TBC1D2B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SCHIZENCEPHALY":{"collection":"C5:HPO","systematicName":"M37604","pmid":"","exactSource":"HP:0010636","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010636","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SCHIZENCEPHALY","geneSymbols":["COL4A1","COL4A2","EMX2","EPG5","KIF26A","SHH","SIX3","TUBB2B","WDR62","WNT1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ELEVATED_ALKALINE_PHOSPHATASE_OF_BONE_ORIGIN":{"collection":"C5:HPO","systematicName":"M37605","pmid":"","exactSource":"HP:0010639","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010639","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELEVATED_ALKALINE_PHOSPHATASE_OF_BONE_ORIGIN","geneSymbols":["ABCC6","CCDC115","CTNS","CYP27B1","CYP2R1","DMP1","ENPP1","ESR1","NPR2","NPR3","SLC34A1","SLC34A3","VCP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_NASAL_CAVITY":{"collection":"C5:HPO","systematicName":"M37606","pmid":"","exactSource":"HP:0010640","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010640","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_NASAL_CAVITY","geneSymbols":["CDON","DISP1","DLL1","FGF8","FGFR1","FOXH1","GAS1","GLI2","GLMN","NODAL","PTCH1","SHH","SIX3","SUFU","TDGF1","TGIF1","ZIC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CERVICAL_SPINE_INSTABILITY":{"collection":"C5:HPO","systematicName":"M41395","pmid":"","exactSource":"HP:0010646","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010646","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CERVICAL_SPINE_INSTABILITY","geneSymbols":["ARSL","B3GALT6","BGN","COL2A1","COMP","POP1","SMAD3","SOX9","TGFB3","TGFBR1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_ELASTICITY_OF_SKIN":{"collection":"C5:HPO","systematicName":"M37607","pmid":"","exactSource":"HP:0010647","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010647","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ELASTICITY_OF_SKIN","geneSymbols":["AARS1","ABCA12","ABCC6","ABL1","ACD","ADAMTS2","ADAMTSL2","AEBP1","AIP","AKT3","ALDH18A1","ALG12","ALG8","ALOX12B","ALOXE3","ANTXR1","ARMC5","ASPRV1","ASXL1","ATP6AP1","ATP6AP2","ATP6V0A2","ATP6V1A","ATP6V1B2","ATP6V1E1","ATP7A","ATRX","B3GALT6","B3GAT3","B4GALT1","B4GALT7","BAZ1B","BCL11B","BCL7B","BGN","BRAF","BUD23","C1R","C1S","CD96","CDH23","CDK13","CDKN2A","CEP55","CFTR","CHST14","CHST3","CLIP2","COG7","COL12A1","COL1A1","COL1A2","COL3A1","COL5A1","COL5A2","COPB1","CSPP1","CSTA","CTNNB1","CUL4B","CYP4F22","DKC1","DLG4","DLK1","DNAJC30","DSE","EBP","EDA","EED","EFEMP2","EHMT1","EIF4H","ELN","ENPP1","EXT1","EZH2","FBLN5","FBN1","FGD1","FGF20","FGFR2","FGFR3","FIG4","FKBP14","FKBP6","FLNA","FOXC1","GATA1","GBA1","GGCX","GNAS","GNB2","GORAB","GPX4","GSN","GTF2I","GTF2IRD1","GTF2IRD2","H1-4","H4C5","HPGD","HRAS","IARS1","IFT140","IFT43","INPPL1","INSR","IPO8","KCNH1","KCNMA1","KCNN3","KIAA0586","KIF22","KMT2C","KRAS","LIMK1","LIPN","LMNA","LOX","LSS","LTBP1","LTBP4","LZTR1","MAN1B1","MAN2B1","MAP2K1","MAP2K2","MAP3K7","MAPRE2","MEG3","MEGF8","METTL27","MGP","MICU1","MLXIPL","MRAS","MRPS16","MRPS22","MTAP","NAA10","NBAS","NCF1","NDUFB10","NDUFB11","NEPRO","NIPAL4","NPR2","NR3C1","NSD1","OTUD5","PAH","PARN","PAX2","PDE11A","PDGFRB","PEX1","PIGQ","PIK3R1","PITX2","PLOD1","POLD1","PRDM5","PRKAR1A","PRMT7","PTDSS1","PTEN","PTPN11","PUF60","PYCR1","RAD21","RAF1","RFC2","RIN2","RIT1","RPS6KA3","RTEL1","RTL1","SDR9C7","SH3PXD2B","SHOC2","SKI","SLC25A24","SLC26A2","SLC2A10","SLC39A13","SLC6A8","SLC7A7","SMAD2","SMAD3","SMARCA2","SMARCAD1","SMARCD2","SON","SPARC","SPEN","SPINT2","SRD5A3","STX1A","SULT2B1","SUZ12","TBL1XR1","TBL2","TBX15","TERT","TGFB2","TGFBR1","TGFBR2","TGM1","TGM5","TINF2","TMEM270","TNXB","TP53","TRAF7","TRIP4","TRPS1","TUBB","TWIST2","USP48","USP8","VAC14","VPS37D","WDR19","WDR35","WDR37","WDR81","WLS","WRN","XYLT1","XYLT2","YY1","ZMPSTE24","ZNF469","ZNRF3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DERMAL_TRANSLUCENCY":{"collection":"C5:HPO","systematicName":"M37608","pmid":"","exactSource":"HP:0010648","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010648","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DERMAL_TRANSLUCENCY","geneSymbols":["ADAMTS2","ALDH18A1","B3GALT6","CHD1","COL1A1","COL1A2","COL3A1","COL5A1","CTC1","EFEMP2","ELN","FBLN5","FOCAD","IARS1","LMNA","POLR3A","PPP1CB","PYCR1","SLC25A24","SMAD3","SOX18","TGFBR1","TGFBR2","TWIST2","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FLAT_NASAL_ALAE":{"collection":"C5:HPO","systematicName":"M37609","pmid":"","exactSource":"HP:0010649","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010649","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FLAT_NASAL_ALAE","geneSymbols":["DDB2","ERCC2","ERCC3","ERCC4","ERCC5","PTCH1","XPA","XPC"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_MENINGEAL_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M37610","pmid":"","exactSource":"HP:0010651","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010651","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MENINGEAL_MORPHOLOGY","geneSymbols":["ABCC6","ACTA2","ADAT3","AKT1","ALG5","ALG9","ALKBH8","ALX4","ARID2","ARMC5","ARPC4","ARVCF","ATN1","ATP6AP1","B3GALNT2","BAP1","BICC1","BMPER","CCDC22","CCL2","CCM2","CDKN1A","CDKN1B","CDKN2B","CDKN2C","CDON","CEP290","CHEK2","COL11A1","COL18A1","COMT","COQ6","CPLANE1","CREBBP","CRPPA","CSPP1","DACT1","DDR2","DENND5A","DHCR7","DISP1","DLL1","DLL3","DNAJB11","DNAJC19","EBP","EIF3F","ELN","EP300","FBN1","FGF8","FGFR1","FGFR2","FKRP","FKTN","FLNA","FOXC2","FOXE3","FOXH1","FRAS1","FREM2","FUZ","GANAB","GAS1","GJA1","GLI2","GLI3","GMPPB","GNAS","GP1BB","GPSM2","GRIP1","H19","HES7","HEY2","HIRA","HNRNPK","HRAS","IFT140","IGF2","INPP5E","JMJD1C","KANSL1","KCNC2","KCNQ1OT1","KIAA0586","KLLN","KRAS","KRIT1","LARGE1","LFNG","LMNA","LOX","LZTR1","MAT2A","MBD4","MEN1","MESP2","MFAP5","MN1","MSX2","MYH11","MYLK","NARS1","NDE1","NEK1","NF1","NF2","NODAL","NOTCH3","NRAS","NRCAM","NSD1","NTHL1","OFD1","OTUD5","PAX3","PDCD10","PDGFB","PDGFRB","PI4KA","PIK3CA","PKD1","PKD2","PLCH1","PLK4","POMGNT1","POMT1","POMT2","PORCN","PPP2R5D","PRKG1","PTCH1","PTEN","PUF60","PUS3","RAB3GAP2","RASA1","RIPPLY2","RNU4ATAC","RREB1","RTTN","SACS","SC5D","SCN1A","SCN2A","SDHB","SDHC","SDHD","SEC23B","SEC24C","SH2B1","SHANK3","SHH","SIN3A","SIX3","SLC30A9","SMAD2","SMAD3","SMAD4","SMARCB1","SMARCE1","SMC1A","SMO","SNRPB","SON","STAG2","STIL","STT3A","SUFU","TBX1","TBXT","TDGF1","TERT","TGFB2","TGFB3","TGFBR1","TGFBR2","TGIF1","THSD4","TMEM216","TMEM231","TMEM237","TRAF7","TTR","UFD1","USF3","VANGL1","VANGL2","WAC","WLS","WNT7A","WRN","XPNPEP3","ZIC2","ZIC3","ZNFX1","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_FALX_CEREBRI":{"collection":"C5:HPO","systematicName":"M47156","pmid":"","exactSource":"HP:0010653","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010653","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_FALX_CEREBRI","geneSymbols":["ABCC6","ATN1","CDON","COL11A1","DDR2","DISP1","DLL1","FGF8","FGFR1","FOXH1","GAS1","GLI2","NDE1","NODAL","PLCH1","PTCH1","SHH","SIX3","SMC1A","STAG2","STIL","SUFU","TDGF1","TGIF1","ZIC2","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_EPIPHYSEAL_STIPPLING":{"collection":"C5:HPO","systematicName":"M37612","pmid":"","exactSource":"HP:0010655","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010655","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EPIPHYSEAL_STIPPLING","geneSymbols":["AGPS","ARSL","BMPR1B","DDR2","DHCR7","DLK1","EBP","FLNB","GDF5","GGCX","GNPAT","GUSB","LBR","MEG3","MGP","NEU1","NSDHL","PDE4D","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PEX7","PRKAR1A","RTL1","SNRPB","THRB","VPS35L"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_EPIPHYSEAL_OSSIFICATION":{"collection":"C5:HPO","systematicName":"M37613","pmid":"","exactSource":"HP:0010656","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010656","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_EPIPHYSEAL_OSSIFICATION","geneSymbols":["AGPS","ARSL","B3GALT6","BMPR1B","CLCN5","COL2A1","COL9A3","COMP","CSPP1","CYP19A1","CYP27B1","CYP2R1","DDR2","DDRGK1","DHCR7","DLK1","DUOX2","DUOXA2","DYM","EBP","ESR1","FGFR2","FLNB","GDF5","GGCX","GNPAT","GPX4","GUSB","HESX1","IARS2","IYD","KCNH1","KIAA0586","KIF22","KIF7","LBR","LHX3","LHX4","MATN3","MEG3","MGP","MIR140","NEU1","NSDHL","PAM16","PDE4D","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PEX7","PISD","POU1F1","PRKAR1A","PROP1","PTH1R","RNU4ATAC","RTL1","SLC34A3","SLC5A5","SNRPB","SOX9","TG","THRB","TONSL","TPO","TRAPPC2","TRPV4","TSHB","TSHR","VDR","VPS35L"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PATCHY_CHANGES_OF_BONE_MINERAL_DENSITY":{"collection":"C5:HPO","systematicName":"M37614","pmid":"","exactSource":"HP:0010658","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010658","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PATCHY_CHANGES_OF_BONE_MINERAL_DENSITY","geneSymbols":["GJA1","LBR","MTAP","SQSTM1","TBCE"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_HAND_BONE_OSSIFICATION":{"collection":"C5:HPO","systematicName":"M37615","pmid":"","exactSource":"HP:0010660","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010660","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_HAND_BONE_OSSIFICATION","geneSymbols":["ABCC6","ARSL","B3GALT6","BGN","BMPR1B","CANT1","CBFB","CHST3","COL2A1","DDR2","EBP","ENPP1","EXOC6B","EXTL3","FLNA","FLNB","GDF5","GPC3","GPC4","HOXA13","IHH","LEMD3","LONP1","MATN3","MBTPS1","NANS","PDE4D","PIGV","PTCH1","PTH1R","RMRP","SETD2","SLC10A7","SLC34A2","SLC35B2","SLC35D1","TONSL","TRIP11","TRPV4","UFSP2","XYLT1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_DIENCEPHALON":{"collection":"C5:HPO","systematicName":"M37616","pmid":"","exactSource":"HP:0010662","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010662","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_DIENCEPHALON","geneSymbols":["AKT1","ANOS1","BAP1","BAZ1B","BCL7B","BRAF","BUD23","CCDC141","CDH2","CDON","CHD7","CLIP2","CLN8","COASY","COX10","CP","CPLANE1","CTNNB1","DCC","DISP1","DLL1","DNAJC30","DUSP6","EIF4H","ELN","EXOC2","EXOC7","FAM149B1","FEZF1","FGF17","FGF8","FGFR1","FKBP6","FKRP","FLRT3","FOXH1","FTL","GAS1","GFAP","GLI2","GLI3","GMPPB","GPKOW","GSX2","GTF2I","GTF2IRD1","GTF2IRD2","GTPBP3","HESX1","HEXB","HS6ST1","IL17RD","JAM2","KIAA0753","KIF7","LEPR","LHX3","LIMK1","MAGEL2","MAN2C1","MED17","METTL27","MFF","MLXIPL","MTRFR","MYORG","NCF1","NDE1","NDNF","NDP","NF2","NODAL","OFD1","PDE6D","PDGFB","PIK3C2A","PIK3CA","PLCH1","POLG","POMGNT1","POMK","POMT1","POMT2","PROK2","PROKR2","PTCD3","PTCH1","RANBP2","RFC2","SCP2","SEMA3A","SETD5","SHH","SIM1","SIX3","SIX6","SLC2A1","SMARCB1","SMARCE1","SMC1A","SMO","SOX10","SOX2","SPG11","SPRY4","STAG2","STIL","STX1A","SUFU","TACR3","TBL2","TCTN3","TDGF1","TERT","TGIF1","TIAM1","TMEM216","TMEM270","TOPORS","TRAF7","TREM2","TRH","TUBA1A","TUBB2B","TUBB3","TWNK","VPS16","VPS37D","WDR11","ZIC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THALAMUS_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M37617","pmid":"","exactSource":"HP:0010663","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010663","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THALAMUS_MORPHOLOGY","geneSymbols":["AKT1","BAP1","CLN8","COASY","COX10","CP","DCC","EXOC2","EXOC7","FKRP","FTL","GFAP","GMPPB","GSX2","GTPBP3","HEXB","JAM2","MED17","MFF","MTRFR","MYORG","NDE1","NF2","PDGFB","PIK3C2A","PIK3CA","POLG","POMGNT1","POMK","POMT1","POMT2","PTCD3","PTCH1","RANBP2","SCP2","SETD5","SLC2A1","SMARCB1","SMARCE1","SMO","SUFU","TERT","TRAF7","TREM2","TUBA1A","TUBB2B","TUBB3","TWNK"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BILATERAL_COXA_VALGA":{"collection":"C5:HPO","systematicName":"M37618","pmid":"","exactSource":"HP:0010665","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010665","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BILATERAL_COXA_VALGA","geneSymbols":["CCDC47","COG8","COL9A1","COL9A2","COL9A3","ERCC6","LMX1B","MAN2B1","PDE4D","STXBP1","TGFB3","UBE3C","UFC1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_ZYGOMATIC_BONE_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M37619","pmid":"","exactSource":"HP:0010668","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010668","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ZYGOMATIC_BONE_MORPHOLOGY","geneSymbols":["ACAN","ACSL4","ADAMTSL4","AGL","AIFM1","AMMECR1","APC","ARID1B","ARVCF","ASPH","ASXL3","ATP6V0A2","ATP6V1A","ATP6V1E1","ATRX","B3GALT6","BAZ1B","BBS7","BCL7B","BCR","BGN","BLM","BMP2","BRAF","BUB1B","BUD23","CA2","CANT1","CCBE1","CDH11","CHD7","CLIP2","CNOT1","CNOT3","COG4","COL11A1","COL11A2","COL1A1","COL2A1","COL5A1","COL9A1","COL9A2","COL9A3","COMT","CRKL","CTDP1","CUL7","DCHS1","DDR2","DHODH","DLG3","DNAJC30","DNMT3B","DVL1","EBP","EFTUD2","EHMT1","EIF4H","ELN","ERF","ESCO2","FAM20C","FAM50A","FAT4","FBN1","FGFR1","FGFR2","FGFR3","FKBP6","FLNA","FLNB","FOXC1","FOXP1","FZD2","GATA1","GJA5","GJA8","GLI2","GORAB","GP1BB","GPC6","GRIA3","GSC","GTF2I","GTF2IRD1","GTF2IRD2","HBA1","HBA2","HBB","HDAC4","HDAC8","HERC1","HIRA","HNRNPH1","HS6ST2","HSPG2","INPPL1","IPO8","JMJD1C","KCNE5","KCNH1","KCNJ2","KIF1A","KIF22","KIF7","KRAS","LARP7","LAS1L","LIFR","LIMK1","LMNA","LRP2","LRP4","LRPPRC","LTBP4","MAF","MAN1B1","MAN2B1","MAP2K1","MAP2K2","MAPK1","MBD5","MECP2","MED12","METTL27","MGP","MLXIPL","MYH3","NBAS","NBN","NCF1","NDP","NECTIN1","NF1","NGF","NONO","NOTCH2","NOTCH3","NPR3","NSDHL","NSMCE2","NTRK1","OBSL1","OFD1","PAX3","PCGF2","PDE4D","PDZD8","PEPD","PEX1","PEX12","PEX7","PIGA","PIGT","PIGU","PIGV","PIK3R1","PLOD3","POGZ","POLE","POLR1A","POLR1B","POLR1C","POLR1D","POLR3A","POMGNT1","POR","POU1F1","PQBP1","PRMT7","PSMC3","PTH1R","PYCR1","PYCR2","RAB23","RAB3GAP1","RAB3GAP2","RAI1","RBM8A","RDH11","RFC2","RFX7","RHOA","RLIM","RNU12","RNU4ATAC","ROR2","RPS26","RREB1","RSPRY1","RUNX2","SATB2","SCARF2","SEC23A","SEC24C","SEMA3E","SERPINH1","SETBP1","SETD2","SF3B2","SF3B4","SHANK3","SHH","SIX3","SLC26A2","SLC2A10","SLC35D1","SLC6A8","SMAD3","SMAD4","SNRPB","SOST","SP7","STAG2","STX1A","TAT","TBL1XR1","TBL2","TBX1","TBX22","TBX4","TCOF1","TFAP2A","TFAP2B","TFE3","TGDS","TGFBR1","TGFBR2","TMEM165","TMEM237","TMEM270","TONSL","TP63","TWIST1","TWIST2","UBE2A","UFD1","VPS13B","VPS37D","WNT5A","XRCC4","YY1","ZBTB20","ZNHIT3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPOPLASIA_OF_THE_ZYGOMATIC_BONE":{"collection":"C5:HPO","systematicName":"M45439","pmid":"","exactSource":"HP:0010669","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010669","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASIA_OF_THE_ZYGOMATIC_BONE","geneSymbols":["BAZ1B","BCL7B","BRAF","BUD23","CHD7","CLIP2","CNOT1","COL11A1","DNAJC30","EIF4H","ELN","FGFR2","FKBP6","GTF2I","GTF2IRD1","GTF2IRD2","KRAS","LIMK1","MAP2K1","MAP2K2","METTL27","MLXIPL","NBAS","NCF1","NECTIN1","NOTCH2","OFD1","PEPD","POLR1B","POLR1C","POLR1D","RFC2","RUNX2","SEMA3E","SF3B2","SF3B4","STX1A","TBL2","TCOF1","TMEM270","TWIST2","VPS13B","VPS37D"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CURVATURE_OF_THE_VERTEBRAL_COLUMN":{"collection":"C5:HPO","systematicName":"M37621","pmid":"","exactSource":"HP:0010674","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010674","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CURVATURE_OF_THE_VERTEBRAL_COLUMN","geneSymbols":["AARS1","ABCB7","ABCC6","ABCC9","ABHD16A","ABL1","ACADS","ACAN","ACP5","ACTA1","ACTA2","ACTB","ACTG1","ACTN2","ACVR1","ADAMTS10","ADAMTS2","ADAMTSL2","ADAR","ADCY5","ADGRG6","ADNP","AEBP1","AFF3","AGA","AGRN","AHDC1","AHI1","AHSG","AIFM1","AIMP1","AIMP2","AIP","AK9","AKT1","ALDH18A1","ALDH3A2","ALG1","ALG11","ALG12","ALG13","ALG14","ALG2","ALG6","ALG9","ALMS1","ALS2","ALX3","AMER1","ANKRD11","ANKRD17","ANO5","ANTXR1","AP1G1","AP1S2","APC","APC2","APTX","ARF1","ARFGEF2","ARID1A","ARID1B","ARID2","ARL13B","ARL3","ARL6IP6","ARMC9","ARPC4","ARSB","ARSK","ARSL","ARVCF","ARX","ASAH1","ASH1L","ASXL2","ASXL3","ATAD1","ATAD3A","ATG7","ATL1","ATN1","ATP2B1","ATP6AP2","ATP6V0A2","ATP6V1A","ATP6V1B2","ATP6V1E1","ATP7A","ATR","ATRIP","ATRX","AUTS2","B3GALT6","B3GAT3","B3GLCT","B4GALNT1","B4GALT7","B9D1","B9D2","BAG3","BANF1","BAP1","BAZ1B","BCL7B","BCOR","BCR","BDNF","BGN","BICD2","BICRA","BIN1","BMP1","BMPR1B","BPTF","BRAF","BRCA1","BRCA2","BRF1","BRIP1","BUD23","C1R","C1S","CACNA1G","CACNA1S","CADM3","CAMSAP1","CAMTA1","CANT1","CAPN1","CAPN3","CARS1","CASK","CASZ1","CAVIN1","CBL","CBS","CBY1","CC2D2A","CCBE1","CCDC22","CCDC32","CCDC47","CCDC8","CCM2","CCN6","CD96","CDC42","CDC42BPB","CDC45","CDH11","CDK13","CDK19","CDKL5","CDON","CENPE","CENPJ","CENPT","CEP104","CEP120","CEP152","CEP290","CEP41","CFAP410","CFL2","CHAT","CHD3","CHD7","CHKA","CHMP1A","CHRM3","CHRNA1","CHRNB1","CHRND","CHRNE","CHRNG","CHST11","CHST14","CHST3","CIC","CLCF1","CLCN4","CLIC2","CLIP2","CLP1","CNOT2","CNP","COG1","COG8","COL10A1","COL11A2","COL12A1","COL13A1","COL1A1","COL1A2","COL25A1","COL27A1","COL2A1","COL3A1","COL5A1","COL5A2","COL6A1","COL6A2","COL6A3","COLEC10","COLEC11","COLQ","COMP","COMT","COPB1","COQ2","COQ4","COQ6","COX8A","CPLANE1","CPLX1","CREBBP","CRKL","CRLF1","CRPPA","CRTAP","CSF1R","CSGALNACT1","CSNK2A1","CSPP1","CTBP1","CTC1","CTDP1","CTNNB1","CTNND2","CTSK","CUL4B","CUL7","CYP27A1","CYP7B1","DACT1","DAG1","DCC","DCHS1","DCX","DDHD1","DDR2","DDRGK1","DDX3X","DDX59","DDX6","DEAF1","DEGS1","DES","DHCR7","DHX30","DHX37","DICER1","DISP1","DKC1","DKK1","DLG4","DLK1","DLL1","DLL3","DLX5","DMD","DMPK","DNA2","DNAJC30","DNAJC6","DNM1L","DNM2","DNMT3A","DNMT3B","DOK7","DPAGT1","DPF2","DPM2","DPP6","DPYSL5","DSE","DSTYK","DUX4","DUX4L1","DVL1","DVL3","DYM","DYNC2H1","DYRK1A","DYSF","EBP","ECEL1","EED","EFNB1","EGR2","EIF2AK3","EIF4H","ELN","ELP1","EMC1","EMD","ENPP1","EP300","ERCC1","ERCC2","ERCC3","ERCC4","ERCC6","ERCC8","ERGIC1","ERLIN1","ERLIN2","ERMARD","ESCO2","EXOC6B","EXOSC5","EXT2","EXTL3","EZH2","FA2H","FAM111B","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FARS2","FARSA","FARSB","FAT4","FBLN5","FBN1","FBN2","FBXL4","FBXO28","FGD1","FGD4","FGF10","FGF8","FGFR1","FGFR2","FGFR3","FGFRL1","FHL1","FIG4","FKBP10","FKBP14","FKBP6","FKRP","FKTN","FLAD1","FLCN","FLI1","FLII","FLNA","FLNB","FLRT1","FLVCR1","FMR1","FN1","FOXC2","FOXE3","FOXG1","FOXH1","FOXP2","FOXRED1","FRG1","FUCA1","FUS","FUT8","FUZ","FXN","FZD2","GABBR2","GABRD","GAD1","GALNS","GAN","GARS1","GAS1","GBA1","GBA2","GCH1","GDAP1","GDF3","GDF5","GDF6","GET4","GFAP","GFM2","GFPT1","GGPS1","GH1","GJA5","GJA8","GJB1","GJC2","GLB1","GLE1","GLI2","GLIS3","GLS","GMPPB","GNA11","GNAQ","GNAS","GNB2","GNE","GNPAT","GNPTAB","GNPTG","GNS","GORAB","GOSR2","GP1BB","GPC3","GPC4","GPR101","GRB10","GRIA3","GRIN1","GSC","GTF2E2","GTF2H5","GTF2I","GTF2IRD1","GTF2IRD2","GTPBP2","GUSB","GZF1","H1-4","H19","H3-3B","H4C5","H4C9","HACD1","HACE1","HDAC4","HECTD4","HERC1","HERC2","HES7","HEY2","HGD","HGSNAT","HINT1","HIRA","HK1","HLA-B","HMGA2","HMGB3","HNRNPA1","HNRNPA2B1","HNRNPH1","HNRNPH2","HNRNPK","HNRNPR","HNRNPU","HPDL","HPGD","HRAS","HS2ST1","HSD17B4","HSPB8","HSPD1","HSPG2","HTRA1","HTT","HUWE1","HYAL1","HYCC1","HYLS1","IARS2","IDH1","IDH2","IDS","IDUA","IFIH1","IFT172","IFT74","IGBP1","IGF2","IGHMBP2","IHH","IKBKG","IL6ST","IMPDH2","INPP5E","INPP5K","INPPL1","INTS1","IPO8","IQSEC2","IRF6","ITCH","ITGA7","ITGB6","JAG1","JAG2","JARID2","JMJD1C","JPH1","KANSL1","KAT6B","KATNIP","KBTBD13","KCNA1","KCNAB2","KCNH1","KCNJ2","KCNJ5","KCNJ6","KCNN3","KCNQ1OT1","KCNQ2","KCNT1","KDELR2","KDM6A","KIAA0586","KIAA0753","KIF1A","KIF21A","KIF22","KIF5A","KLC2","KLHL41","KLHL7","KLLN","KMT2A","KMT2C","KMT2D","KMT2E","KNSTRN","KRAS","KRIT1","KY","L1CAM","LAGE3","LAMA2","LAMB2","LARGE1","LARP7","LBR","LEMD3","LETM1","LFNG","LGI3","LHX3","LIFR","LIG4","LIMK1","LIPE","LMNA","LMNB1","LMNB2","LMOD3","LMX1B","LONP1","LOX","LRP4","LRP5","LSM11","LSS","LTBP1","LTBP3","LTBP4","LUZP1","LYSET","LZTR1","MAD2L2","MADD","MAF","MAGEL2","MAN2B1","MAP1B","MAP2K1","MAP2K2","MAP3K20","MAP3K7","MAPK1","MAPK8IP3","MAPKBP1","MAPT","MARS1","MARS2","MASP1","MAT2A","MATN3","MBD5","MBTPS1","MBTPS2","MCM3AP","MECP2","MED12","MED12L","MED25","MEG3","MEGF10","MEGF8","MEIS2","MEOX1","MESD","MESP2","METTL27","MFAP5","MFN2","MGAT2","MGME1","MIA3","MINPP1","MKRN3","MKS1","MLXIPL","MMP13","MMP14","MMP2","MMP23B","MOGS","MORC2","MPL","MPLKIP","MPZ","MRAS","MRPS34","MSTO1","MTMR14","MTMR2","MTRFR","MTRR","MTTP","MUSK","MVK","MYBPC1","MYF5","MYH11","MYH2","MYH3","MYH7","MYL11","MYL2","MYLK","MYMK","MYMX","MYO18B","MYO1H","MYO9A","MYOD1","MYPN","NAA10","NAA20","NACC1","NALCN","NARS1","NCAPG2","NCF1","NDN","NDP","NDRG1","NDUFA12","NDUFAF1","NDUFAF4","NDUFAF5","NDUFAF6","NDUFS3","NEB","NECTIN1","NEDD4L","NEFL","NEK9","NELFA","NEMF","NEPRO","NEU1","NF1","NF2","NFIX","NGLY1","NHP2","NIN","NKAP","NKX3-2","NKX6-2","NMNAT1","NODAL","NONO","NOP10","NOTCH2","NOTCH2NLC","NOTCH3","NPAP1","NPHP1","NPM1","NPR2","NR4A2","NRAS","NRCAM","NRXN1","NSD1","NSD2","NSDHL","NSUN2","NTNG1","NUP107","NUP85","NUP88","NUS1","NXN","OBSL1","OCA2","OCRL","OFD1","OGDHL","OTUD6B","OXR1","P3H1","P4HB","P4HTM","PACS1","PAFAH1B1","PALB2","PAPSS2","PARN","PAX2","PAX3","PAX6","PAX7","PCGF2","PCNT","PCYT1A","PDCD10","PDE11A","PDE6D","PDGFRB","PDPN","PDZD8","PET100","PEX5","PEX7","PGAP2","PGAP3","PGM3","PHACTR1","PHF6","PHF8","PI4KA","PIBF1","PIEZO1","PIEZO2","PIGA","PIGG","PIGL","PIGO","PIGQ","PIGS","PIGT","PIGU","PIGV","PIGW","PIGY","PIK3C2A","PIK3CA","PIK3CD","PIK3R2","PISD","PLAA","PLCB1","PLCH1","PLEC","PLEKHG5","PLK4","PLOD1","PLOD2","PLOD3","PLP1","PMM2","PMP22","PNKP","PNPT1","PODXL","POLA1","POLD1","POLE","POLG","POLR3A","POLR3GL","POMGNT1","POMK","POMT1","POMT2","POP1","POR","PORCN","POU4F1","PPIB","PPM1D","PPP1CB","PPP1R12A","PPP1R15B","PPP1R21","PPP2R1A","PPP2R3C","PPP2R5D","PQBP1","PRDM13","PRDM16","PRDM5","PRG4","PRKAR1A","PRKCZ","PRKD1","PRKG1","PRKG2","PRORP","PRPS1","PRUNE1","PRX","PSAT1","PSMD12","PTCH1","PTCH2","PTDSS1","PTEN","PTPN11","PUF60","PUS1","PWAR1","PWRN1","PYCR1","PYCR2","PYROXD1","QRICH1","RAB18","RAB23","RAB33B","RAB3GAP1","RAB3GAP2","RAB5IF","RAC1","RAC3","RAD51","RAD51C","RAF1","RAI1","RAPSN","RASA2","RBBP8","RBCK1","RBM10","RBM28","RBM8A","RECQL4","RERE","RET","RETREG1","RFC2","RFWD3","RIGI","RIN2","RIPPLY2","RIT1","RMRP","RNASEH1","RNASEH2A","RNASEH2B","RNASEH2C","RNF113A","RNF125","RNF13","RNU12","RNU7-1","ROBO3","ROR2","RPGRIP1L","RPL10","RPL11","RPL13","RPS6KA3","RRAS","RRAS2","RREB1","RRM2B","RSPRY1","RTEL1","RTL1","RUNX2","RUSC2","RYR1","RYR3","SACS","SALL4","SAMD9","SAMHD1","SATB1","SATB2","SBF1","SBF2","SCARB2","SCN1A","SCN2A","SCN4A","SCN9A","SCUBE3","SCYL2","SDHB","SDHC","SDHD","SEC23A","SEC23B","SEC24C","SEC24D","SELENON","SEMA3E","SEMA5A","SERPINH1","SETBP1","SETD2","SETD5","SETX","SF3B2","SF3B4","SFRP4","SGCA","SGCG","SGMS2","SGSH","SH2B1","SH3PXD2B","SH3TC2","SHH","SHMT2","SHOX","SHROOM4","SIGMAR1","SIL1","SIM1","SIN3A","SIX3","SKI","SLC10A7","SLC12A5","SLC12A6","SLC16A2","SLC18A3","SLC1A2","SLC25A1","SLC25A21","SLC25A22","SLC25A24","SLC25A42","SLC25A46","SLC26A2","SLC2A10","SLC30A9","SLC35A2","SLC35A3","SLC35B2","SLC37A4","SLC39A13","SLC39A14","SLC52A2","SLC52A3","SLC5A7","SLC6A1","SLCO2A1","SLITRK2","SLX4","SMAD2","SMAD3","SMAD4","SMARCA2","SMARCA4","SMARCAL1","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SMC1A","SMC5","SMCHD1","SMG9","SMS","SNAP25","SNORD115-1","SNORD116-1","SNRPB","SNRPN","SNX14","SON","SORD","SOS1","SOS2","SOX11","SOX4","SOX5","SOX9","SP7","SPARC","SPART","SPATA5","SPATA5L1","SPEG","SPEN","SPG11","SPG7","SPRED1","SPRED2","SPRTN","SPTBN1","SPTBN4","SPTLC1","SRCAP","SRD5A3","SRY","SSR4","STAC3","STAG1","STAG2","STAT3","STIL","STX1A","SUFU","SUPT16H","SURF1","SUZ12","SVIL","SYNE1","SYNE2","SYNJ1","SYT1","SYT2","TAF1","TANC2","TARS1","TBC1D20","TBC1D24","TBCD","TBCE","TBCK","TBL1XR1","TBL2","TBX1","TBX2","TBX4","TBX5","TBX6","TCF12","TCF20","TCF4","TCTN1","TCTN2","TCTN3","TDGF1","TELO2","TERC","TERT","TFAP2A","TFE3","TGDS","TGFB1","TGFB2","TGFB3","TGFBR1","TGFBR2","TGIF1","THPO","THSD4","TINF2","TK2","TLK2","TMCO1","TMEM138","TMEM147","TMEM165","TMEM216","TMEM218","TMEM231","TMEM237","TMEM270","TMEM38B","TMEM43","TMEM63C","TMEM67","TMEM94","TMTC3","TNFRSF11B","TNNI2","TNNT1","TNNT3","TOGARAM1","TONSL","TOR1A","TPI1","TPM2","TPM3","TRAIP","TRAPPC11","TRAPPC12","TRAPPC2","TRAPPC4","TREX1","TRIO","TRIP11","TRIP4","TRMT10A","TRPM3","TRPS1","TRPV4","TRRAP","TTC19","TTC21B","TTC5","TTI2","TTN","TTPA","TUBA1A","TUBB3","TUBB4A","TUBGCP4","TUBGCP6","TWIST1","TYMS","UBA1","UBE2T","UBE3A","UBE4B","UBTF","UFC1","UFD1","UFSP2","UNC80","UPB1","UPF3B","USB1","USF3","USP7","USP8","USP9X","VAC14","VAMP1","VANGL1","VCP","VDR","VMA21","VPS13B","VPS33A","VPS35L","VPS37A","VPS37D","VPS53","WASHC5","WDR11","WDR45B","WDR81","WIPI2","WLS","WNK1","WNT1","WNT3A","WNT5A","WRAP53","WT1","XRCC2","XYLT1","XYLT2","YARS2","YIF1B","YWHAG","ZBTB20","ZC4H2","ZDHHC9","ZEB2","ZIC1","ZIC2","ZMIZ1","ZMPSTE24","ZMYM2","ZNF407","ZNF423","ZNF469"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_FOOT_BONE_OSSIFICATION":{"collection":"C5:HPO","systematicName":"M37622","pmid":"","exactSource":"HP:0010675","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010675","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FOOT_BONE_OSSIFICATION","geneSymbols":["CANT1","COL2A1","EBP","EIF2AK3","FLNA","HOXA13","INPPL1","MATN3","PTH1R","SLC35D1","TRIP11"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ENURESIS_NOCTURNA":{"collection":"C5:HPO","systematicName":"M37623","pmid":"","exactSource":"HP:0010677","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010677","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ENURESIS_NOCTURNA","geneSymbols":["ADNP","AQP2","AVPR2","BMP1","BNC2","FA2H","FOXP2","KY","PRKAR1B","RNF168","SLC5A2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ELEVATED_TISSUE_NON_SPECIFIC_ALKALINE_PHOSPHATASE":{"collection":"C5:HPO","systematicName":"M37624","pmid":"","exactSource":"HP:0010679","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010679","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELEVATED_TISSUE_NON_SPECIFIC_ALKALINE_PHOSPHATASE","geneSymbols":["ABCC6","CCDC115","CTNS","CYP27B1","CYP2R1","DMP1","ENPP1","ESR1","GPR35","MST1","NPR2","NPR3","SEMA4D","SLC34A1","SLC34A3","TCF4","VCP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PULVERULENT_CATARACT":{"collection":"C5:HPO","systematicName":"M37625","pmid":"","exactSource":"HP:0010693","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010693","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PULVERULENT_CATARACT","geneSymbols":["BEST1","CRYBB1","CRYBB2","CRYGC","FTL","GJA5","GJA8","HSF4","LIM2","MAF","VIM"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SUTURAL_CATARACT":{"collection":"C5:HPO","systematicName":"M46180","pmid":"","exactSource":"HP:0010695","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010695","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUTURAL_CATARACT","geneSymbols":["ACADS","CRYBA1","CRYBB2","CRYGS","GJA5","GJA8","NHS","SEC23A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_POLAR_CATARACT":{"collection":"C5:HPO","systematicName":"M37626","pmid":"","exactSource":"HP:0010696","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010696","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POLAR_CATARACT","geneSymbols":["APC","BBS2","COL4A3","CRYAB","CRYGB","EBP","EPHA2","HS2ST1","HSF4","ITM2B","MIR184","PEX5","PITX3","TAOK1","VIM","ZBTB20"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INCREASED_CIRCULATING_ANTIBODY_LEVEL":{"collection":"C5:HPO","systematicName":"M37627","pmid":"","exactSource":"HP:0010702","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010702","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_CIRCULATING_ANTIBODY_LEVEL","geneSymbols":["ADA","ADAM17","AICDA","ALB","CARD10","CARD11","CARD9","CASP10","CCND1","CD247","CD3D","CD3E","CD40","CD40LG","CDSN","COL1A1","COL7A1","DCLRE1C","DNMT3B","DOCK8","DSG1","EGFR","ELANE","EXTL3","FAS","FASLG","FOXP3","GBA1","GPC3","GPC4","GPR35","GTF2H5","HLA-DRB1","IFIH1","IFNGR1","IKBKG","IL12A","IL12RB1","IL21","IL21R","IL2RA","IL2RB","IL2RG","IL4R","IL6R","IL6ST","IL7R","IPO8","IRAK4","IRF5","KLHDC8B","KRAS","KRT74","KRT9","LIG4","MMEL1","MS4A2","MST1","MUC5B","MVK","MYD88","NCKAP1L","NFKBIA","NLRP1","NRAS","NSMCE3","OTULIN","PEPD","PGM3","PIK3CD","PIK3R1","PLA2G7","POMP","POU2AF1","PRKCD","PSMB4","PSMB8","PSMB9","PSTPIP1","PTEN","RASGRP1","SCARB2","SEMA4D","SETX","SFTPA2","SFTPC","SH2D1A","SLC7A7","SPIB","SPINK5","SPPL2A","STAT3","STAT5B","STING1","TCF4","TERT","TGFB1","TNFSF15","TNPO3","TPP2","TYK2","UNG","VPS33A","VPS45","WAS","XIAP","ZNF341"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_4_5_FINGER_SYNDACTYLY":{"collection":"C5:HPO","systematicName":"M47157","pmid":"","exactSource":"HP:0010705","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010705","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_4_5_FINGER_SYNDACTYLY","geneSymbols":["DSP","GJA1","JUP","NEDD4L","RTTN"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_2_4_FINGER_SYNDACTYLY":{"collection":"C5:HPO","systematicName":"M46181","pmid":"","exactSource":"HP:0010709","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010709","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_2_4_FINGER_SYNDACTYLY","geneSymbols":["CDC45","CDH3","NECTIN4","SALL1","TWIST1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_HAIR_TEXTURE":{"collection":"C5:HPO","systematicName":"M37628","pmid":"","exactSource":"HP:0010719","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010719","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_HAIR_TEXTURE","geneSymbols":["AARS1","ABCD1","AFF4","AHCY","ALMS1","ALX4","ARID1B","ASL","ATAD3A","ATP6V0A2","ATP6V1A","ATP6V1E1","ATP7A","BCS1L","BRAF","BRF1","C18orf32","CARS1","CBL","CBS","CCDC47","CDH3","CDK13","CDSN","CERT1","CLCN7","COL3A1","CSTB","CTC1","DCAF17","DEAF1","DPYSL5","DSC2","DSG2","DSG4","DSP","EBP","EDA","EDAR","EDARADD","EED","EFNB1","EPS8L3","ERCC2","ERCC3","ERCC6","ERCC8","EZH2","FLNA","FOCAD","GAN","GATAD2B","GJA1","GJB6","GNB2","GNPTAB","GNS","GON7","GTF2E2","GTF2H5","GTPBP2","GUSB","H4C5","HEATR3","HECTD4","HGSNAT","HNRNPH2","HPD","HR","HRAS","HRURF","IFT122","IFT43","IKBKG","ITGA3","JUP","KANK2","KANSL1","KAT6B","KCTD1","KRAS","KREMEN1","KRT17","KRT25","KRT71","KRT74","KRT81","KRT83","KRT85","KRT86","LIG4","LIPH","LPAR6","LZTR1","MAP2K1","MAP2K2","MED12","MPLKIP","MRAS","MSX1","MTOR","NAA10","NAGLU","NBAS","NECTIN1","NECTIN4","NFIX","NOTCH2","NOTCH3","NRAS","NSD1","NSUN2","OCRL","OFD1","PADI3","PCNT","PERP","PHGDH","PIGL","PLOD3","PORCN","PPP1CB","PPP1R15B","PQBP1","PRR12","PTEN","PTPN11","PYCR1","RAF1","RASA2","RIPK4","RIT1","RLIM","RMRP","RNF113A","RNU4ATAC","RPL21","RPS23","RPS6KA3","RRAS","RRAS2","SATB2","SCUBE3","SEC23A","SGSH","SHOC2","SIN3A","SIN3B","SKIC2","SKIC3","SLC25A24","SLC7A7","SMAD4","SMARCA2","SMARCAL1","SNX10","SON","SOS1","SOS2","SPINK5","SPRED2","SREBF1","ST14","SUMF1","SUOX","SUZ12","SVBP","TARS1","TCHH","TCIRG1","TGM3","TINF2","TMCO1","TMEM147","TMEM231","TNFSF11","TP63","TRIM8","TRMT10A","TRNT1","TRPS1","TTC5","TWIST2","USP9X","VPS33A","WDR35","WNT10A","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_HAIR_PATTERN":{"collection":"C5:HPO","systematicName":"M37629","pmid":"","exactSource":"HP:0010720","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010720","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_HAIR_PATTERN","geneSymbols":["ABCC9","ABCD1","ACTB","ACTG1","ADA2","ADARB1","ADNP","AEBP1","AGPAT2","AIFM1","ALDOA","ALG11","ALG12","ALG9","ALMS1","ALX1","ALX3","ANKRD11","ANKRD17","ANTXR1","AP2M1","APC","APC2","ARHGEF2","ARID1A","ARID1B","ARID2","ARX","ASH1L","ASXL1","ATP6V1B2","B3GAT3","BICRA","BLM","BRAF","BRCA1","BRD4","BSCL2","CAMK2A","CAMTA1","CAV1","CAVIN1","CBL","CCDC22","CCNK","CD96","CDC42BPB","CDH1","CDH2","CDH3","CDK13","CDK5","CHD2","CHN1","CHRNG","CHST3","CIT","CLCN3","CNBP","CNOT3","COG5","COG7","COL17A1","CPLX1","CPOX","CREBBP","CTBP1","CUL4B","CWC27","DEAF1","DHX30","DLX4","DMPK","DOCK6","DOCK7","DPF2","DPH2","DPM2","DSG4","EBP","ECM1","EDEM3","EFNB1","EMC1","EP300","ERMARD","EXOSC2","FAT4","FGD1","FGFR2","FGFR3","FGFRL1","FKRP","FLNA","FOS","FOXP1","FRAS1","FREM1","FREM2","FRMD4A","FRMPD4","GATA1","GDF11","GDF3","GDF6","GJA5","GJA8","GMPPA","GNB2","GNE","GRIP1","H1-4","H3-3A","H4C5","HDAC4","HDAC8","HEATR3","HERC2","HNF1B","HPGD","HR","HRAS","HS2ST1","HSPG2","HUWE1","HYOU1","IFIH1","IFT140","IGF1","IKBKG","IL2RA","INSR","INTU","IRX5","ITGB4","JARID2","KCNH1","KCNJ8","KCNN3","KCTD1","KDM1A","KDM4B","KDM5C","KMT2A","KNSTRN","KRAS","KREMEN1","KRT81","KRT83","KRT85","KRT86","LAMB3","LETM1","LIG4","LMNA","LMX1B","LRP2","LRPPRC","LZTR1","MAB21L1","MADD","MAFB","MAGEL2","MAN1B1","MAN2B1","MAP2K1","MAP2K2","MAP3K7","MAPK1","MAPRE2","MBD5","MED12","MED13L","MED27","MEGF8","MEIS2","MEOX1","MID1","MKRN3","MRAS","MYH3","MYO18B","NANS","NBN","NECTIN4","NELFA","NEPRO","NEXMIF","NF1","NFIX","NIPBL","NOTCH2","NOTCH3","NOVA2","NPAP1","NR3C1","NRAS","NSD1","NSD2","NSUN2","NUDT2","OGT","PACS1","PADI3","PEPD","PEX1","PEX19","PEX6","PGAP1","PHF8","PIGG","PIGK","PIK3C2A","PIK3CD","POLA1","POLR1B","POLR1C","POLR1D","PORCN","PPARG","PPP1CB","PPP1R15B","PPP2R1A","PPP2R3C","PQBP1","PRDM13","PRKD1","PTPN11","PWAR1","PWRN1","RAB18","RAB3GAP1","RAB3GAP2","RAD21","RAF1","RALGAPA1","RASA2","RBL2","RBM10","RERE","RHOBTB2","RIT1","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS7","RRAS","RRAS2","SALL4","SATB1","SCN1A","SCNM1","SETD2","SETD5","SH2B1","SHOC2","SIN3A","SLC12A6","SLC25A24","SLC2A1","SLC35C1","SLC6A1","SLC9A7","SLCO2A1","SMARCA2","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SMC1A","SMC3","SMO","SMPD4","SNORD115-1","SNORD116-1","SOS1","SOS2","SOX11","SOX4","SPATA5L1","SPECC1L","SPEN","SPOP","SPRED1","SPRED2","SRCAP","SRY","STAG2","STAMBP","STT3A","STXBP1","SVBP","SYNGAP1","SYT1","TAF6","TBC1D20","TBC1D24","TBL1XR1","TBX15","TBX2","TCF12","TCF4","TCOF1","TECPR2","TFAP2A","TGM3","THOC6","TMCO1","TP63","TRAC","TRAF7","TRIO","TRMT10A","TRPM3","TSC1","TSR2","TTC5","TWIST1","TWIST2","UBE2A","UBR1","UGP2","USB1","VPS13B","VPS33A","VPS51","WASHC5","WBP11","WNT4","WRN","XRCC4","XYLT2","YY1","ZC4H2","ZIC1","ZMPSTE24","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_HAIR_WHORL":{"collection":"C5:HPO","systematicName":"M37630","pmid":"","exactSource":"HP:0010721","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010721","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_HAIR_WHORL","geneSymbols":["CAMK2A","CAMTA1","CREBBP","EP300","FLNA","FOXP1","FRMPD4","HDAC4","HERC2","IFT140","IRX5","LMNA","MAGEL2","MAN1B1","MED12","MED13L","MED27","MKRN3","NPAP1","OGT","POLA1","PPP2R1A","PPP2R3C","PWAR1","PWRN1","SNORD115-1","SNORD116-1","STAMBP","TCF4","TRAF7","TRIO","UBE2A","UBR1","WRN","YY1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ASYMMETRY_OF_THE_EARS":{"collection":"C5:HPO","systematicName":"M41396","pmid":"","exactSource":"HP:0010722","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010722","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ASYMMETRY_OF_THE_EARS","geneSymbols":["ASH1L","BCOR","GAD1","PUF60","RAB3GAP2","SMS"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CHERRY_RED_SPOT_OF_THE_MACULA":{"collection":"C5:HPO","systematicName":"M37631","pmid":"","exactSource":"HP:0010729","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010729","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHERRY_RED_SPOT_OF_THE_MACULA","geneSymbols":["ASAH1","CTSA","DARS1","FUCA1","GALC","GLB1","GM2A","HEXA","HEXB","NEU1","PSAP","SMPD1","TMEM231","YME1L1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NODULAR_CHANGES_AFFECTING_THE_EYELIDS":{"collection":"C5:HPO","systematicName":"M45440","pmid":"","exactSource":"HP:0010732","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010732","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NODULAR_CHANGES_AFFECTING_THE_EYELIDS","geneSymbols":["ABCA1","ABCG8","APOA1","APOA2","APOB","APOE","CYP27A1","EPHX2","G6PC1","GHR","LDLR","LPL","PCSK9","PDE11A","PDGFRB","PPP1R17","PRKAR1A","SLC37A4","SPRED1","TTPA"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NAEVUS_FLAMMEUS_OF_THE_EYELID":{"collection":"C5:HPO","systematicName":"M37632","pmid":"","exactSource":"HP:0010733","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010733","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NAEVUS_FLAMMEUS_OF_THE_EYELID","geneSymbols":["ASXL1","DIS3L2","DVL1","DVL3","FZD2","PUF60","WNT5A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_OSTEOPATHIA_STRIATA":{"collection":"C5:HPO","systematicName":"M46182","pmid":"","exactSource":"HP:0010740","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010740","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OSTEOPATHIA_STRIATA","geneSymbols":["AMER1","PORCN","RAB3GAP2","TONSL","WDR26"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PEDAL_EDEMA":{"collection":"C5:HPO","systematicName":"M37633","pmid":"","exactSource":"HP:0010741","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010741","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PEDAL_EDEMA","geneSymbols":["ACTC1","ALB","ANGPT2","AP1S3","APC2","ATP7B","ATRX","BRAF","CDH23","CITED2","COL2A1","EIF2AK4","EPHB4","FIBP","FLT4","FN1","GATA4","GATA6","GBA1","GJC2","IKBKG","IL36RN","IRF4","KIF1A","MAGEL2","MEFV","MKKS","MYD88","MYH6","NDN","NFKBIA","NKX2-5","NR3C1","NSD1","OCA2","PIEZO1","PLAA","PRKAR1A","RBM8A","RNF13","SCARB2","SETD2","SNRPN","TBX20","TGM1","TIE1","TLL1","TP53","USP48","USP8","VEGFC","ZNHIT3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APLASIA_OF_THE_PHALANGES_OF_THE_TOES":{"collection":"C5:HPO","systematicName":"M37634","pmid":"","exactSource":"HP:0010745","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010745","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_OF_THE_PHALANGES_OF_THE_TOES","geneSymbols":["BMPR1B","EOGT","FIG4","GDF5","KCNN3","LMNA","VAC14"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPOPLASIA_OF_THE_PHALANGES_OF_THE_TOES":{"collection":"C5:HPO","systematicName":"M46183","pmid":"","exactSource":"HP:0010746","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010746","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASIA_OF_THE_PHALANGES_OF_THE_TOES","geneSymbols":["ARID1B","FIG4","IHH","NOG","SMARCA4","VAC14","WLS"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MEDIAL_FLARING_OF_THE_EYEBROW":{"collection":"C5:HPO","systematicName":"M37636","pmid":"","exactSource":"HP:0010747","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010747","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MEDIAL_FLARING_OF_THE_EYEBROW","geneSymbols":["ABL1","APTX","ARL6","BBIP1","BBS1","BBS10","BBS12","BBS2","BBS4","BBS5","BBS7","BBS9","CEP19","CEP290","CFAP418","ELN","FRA10AC1","GNB2","IFT172","IFT27","IFT74","LZTFL1","MKKS","MKS1","MLXIPL","NPHP1","NRCAM","PRKD1","SCAPER","SCLT1","SDCCAG8","SIN3A","TRIM32","TTC8","WDPCP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BLEPHAROCHALASIS":{"collection":"C5:HPO","systematicName":"M41397","pmid":"","exactSource":"HP:0010749","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010749","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BLEPHAROCHALASIS","geneSymbols":["ADAMTS2","CDH11","COL1A1","COL5A1","COL5A2","GSN"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DERMATOCHALASIS":{"collection":"C5:HPO","systematicName":"M41398","pmid":"","exactSource":"HP:0010750","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010750","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DERMATOCHALASIS","geneSymbols":["COL1A1","COL5A1","COL5A2","EFEMP2","FBLN5","KNSTRN","LTBP1","PIK3CD"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DIMPLE_CHIN":{"collection":"C5:HPO","systematicName":"M37637","pmid":"","exactSource":"HP:0010751","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010751","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DIMPLE_CHIN","geneSymbols":["CHD7","CTU2","EZH2","KCNJ6","MYH3","NALCN","PIEZO2","PIK3R1","RUNX2","SEMA3E","SMARCA2","SPECC1L","TBX22","TFAP2A","TWIST2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_TEMPOROMANDIBULAR_JOINT":{"collection":"C5:HPO","systematicName":"M37638","pmid":"","exactSource":"HP:0010754","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010754","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_TEMPOROMANDIBULAR_JOINT","geneSymbols":["ANKRD55","CD247","COL1A1","COL5A1","COL5A2","EDN1","GNAI3","IDS","IL2RA","IL2RB","LAMA2","LMNA","PLCB4","PTPN2","PTPN22","SF3B4","STAT4","VPS13A","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_PREMAXILLA":{"collection":"C5:HPO","systematicName":"M37639","pmid":"","exactSource":"HP:0010758","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010758","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_PREMAXILLA","geneSymbols":["COLEC11","EFEMP2","GLI2","HRAS","NFIX","NRAS","PEX19","PTCH1","RECQL","SIX3","SMOC1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PROMINENCE_OF_THE_PREMAXILLA":{"collection":"C5:HPO","systematicName":"M37640","pmid":"","exactSource":"HP:0010759","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010759","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROMINENCE_OF_THE_PREMAXILLA","geneSymbols":["COLEC11","EFEMP2","HRAS","NFIX","NRAS","PEX19","RECQL"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABSENT_TOE":{"collection":"C5:HPO","systematicName":"M37641","pmid":"","exactSource":"HP:0010760","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010760","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_TOE","geneSymbols":["ABCC9","ACVR1","APC","ARHGAP31","ARID1B","ARSL","BHLHA9","BMP2","BMPR1B","CHST11","CHSY1","CPLX1","CTBP1","DACT1","DLL4","DLX5","DOCK6","EIF4A3","EOGT","FGFR1","FGFR2","FGFRL1","FIG4","FLNA","GDF5","GJA1","GLI3","GPC4","HOXA13","HOXD13","IHH","KAT6A","KCNH1","KCNJ8","KCNN3","LETM1","LMBR1","LMNA","LRP4","MAP3K20","MGP","NEK1","NELFA","NOG","NOTCH1","NOTCH2","NSD2","NSDHL","PIGF","PIGG","PORCN","PTHLH","PUF60","RBPJ","RIPK4","ROBO1","ROR2","SALL1","SALL4","SF3B4","SMARCA4","SMOC1","TPR","TRPV4","VAC14","WNT10B","WNT7A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BROAD_COLUMELLA":{"collection":"C5:HPO","systematicName":"M37642","pmid":"","exactSource":"HP:0010761","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010761","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BROAD_COLUMELLA","geneSymbols":["ALX4","ATP6V1E1","CKAP2L","CWC27","EXOSC2","FLI1","GJA1","H4C5","HDAC4","PIK3C2A","PPP1R21","RDH11","RPS6KA3","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LOW_INSERTION_OF_COLUMELLA":{"collection":"C5:HPO","systematicName":"M47158","pmid":"","exactSource":"HP:0010763","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010763","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOW_INSERTION_OF_COLUMELLA","geneSymbols":["ALG9","MADD","RHOBTB2","SMG9","TGDS","TSPEAR"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PALMAR_HYPERKERATOSIS":{"collection":"C5:HPO","systematicName":"M47159","pmid":"","exactSource":"HP:0010765","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010765","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PALMAR_HYPERKERATOSIS","geneSymbols":["AAAS","AAGAB","ABCA12","ABCC9","ACTC1","ACTN2","AKT1","ALOX12B","ALOXE3","ANKRD1","AP1B1","AQP5","ATP2A2","BAG3","BAG5","BRAF","CAP2","CARD14","CAST","CD28","CERS3","CFTR","COG6","COL14A1","COL17A1","COL7A1","CRYAB","CSRP3","CST6","CSTA","CTC1","CTLA4","CTSC","CYP4F22","DES","DKC1","DMD","DOLK","DSC2","DSG1","DSG2","DSP","DST","ENPP1","FERMT1","FGFR2","FHL2","FIG4","FKTN","GATAD1","GJA1","GJB2","GJB3","GJB4","GJB6","GMPPA","GRHL2","HAND2","HPGD","ITGB4","JPH2","JUP","KANK2","KDSR","KLHL24","KLLN","KRAS","KRT1","KRT10","KRT14","KRT16","KRT17","KRT2","KRT5","KRT6A","KRT6B","KRT6C","KRT74","KRT83","KRT9","LAMA3","LAMA4","LAMB3","LAMC2","LDB3","LMNA","LMOD2","LORICRIN","LSS","MAP2K1","MAP2K2","MBTPS2","MCOLN1","MMP1","MT-TS1","MTX2","MYBPC3","MYH6","MYH7","MYPN","NECTIN1","NECTIN4","NEXN","NHP2","NIPAL4","NLRP1","NOP10","NPM1","PARN","PDGFRB","PEPD","PERP","PIGL","PIK3CA","PKP1","PLEC","PLN","PNPLA1","POMP","PPCS","PRDM16","PSEN1","PSEN2","PTEN","RAF1","RBM20","RHBDF2","RPL3L","RSPO1","RTEL1","SASH1","SCN5A","SDHA","SDHB","SDHC","SDHD","SDR9C7","SEC23B","SERPINA12","SERPINB7","SGCD","SLCO2A1","SLURP1","SMARCAD1","SNAP29","SRD5A3","STS","SULT2B1","TAF1A","TAFAZZIN","TAT","TCAP","TERC","TERT","TGM1","TINF2","TMPO","TNFRSF1B","TNNC1","TNNI3","TNNT2","TP63","TPM1","TRAPPC11","TRPM4","TRPV3","TTN","TXNRD2","TYMS","USB1","USF3","VCL","VEZF1","VPS33B","WNT10A","WRAP53","ZC4H2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ECTOPIC_CALCIFICATION":{"collection":"C5:HPO","systematicName":"M37644","pmid":"","exactSource":"HP:0010766","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010766","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ECTOPIC_CALCIFICATION","geneSymbols":["ABCC6","ABCG5","ABCG8","ACD","ACP5","ACVR1","ADAR","AGPS","AGXT","AIRE","ALPL","AMER1","ANKH","AP1S2","AP2S1","APOB","APP","ARSL","ATOH7","ATP7A","ATP7B","B2M","BMPR1B","BRAF","CA2","CASR","CCN6","CDC73","CFTR","CLCNKB","COL11A1","COL2A1","COL9A1","COLGALT1","CPA1","CPT2","CSF1R","CTC1","CTNNB1","CTNS","CTRC","CTSC","CYP11A1","CYP2U1","DAG1","DDR2","DENND5A","DHCR7","DKC1","DLK1","DNM1L","EBP","ECM1","ENPP1","ERCC1","ERCC2","ERCC3","ERCC4","ERCC5","ERCC6","ERCC8","EXOSC2","FAM111A","FAM20C","FARSB","FBN1","FGF23","FGFR1","FLNB","FXYD2","FZD4","GALNT3","GATA3","GATA5","GBA1","GCM2","GDF5","GGCX","GJA1","GNA11","GNAQ","GNAS","GNPAT","GUSB","HGD","HLA-DQA1","HLA-DQB1","HRAS","HSD17B4","HYAL1","IFIH1","IFNG","IRF8","ISG15","JAM2","KARS1","KATNB1","KCNJ1","KL","KRAS","KRIT1","LBR","LDLR","LDLRAP1","LEMD3","LIPA","LMNA","LRP5","LSM11","MEFV","MEG3","MEN1","MGP","MT-CO1","MT-CO2","MT-CO3","MT-ND1","MT-ND4","MT-ND5","MT-ND6","MT-TF","MT-TH","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TW","MTX2","MYMK","MYMX","MYO5A","MYORG","NDE1","NDP","NEU1","NHP2","NKX2-5","NOP10","NOTCH1","NOTCH3","NPM1","NRAS","NSDHL","NSMCE3","NT5E","OCLN","ODC1","OPA1","PAH","PARN","PCSK9","PDE4D","PDGFB","PDGFRB","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PEX7","PI4KA","POT1","PPFIBP1","PRKAR1A","PRSS1","PRSS2","PSMB8","PSMC3","PSMG2","PTCH1","PTCH2","PTH","PTH1R","QDPR","RAB39B","RB1","RELN","RIGI","RNASEH2A","RNASEH2B","RNASEH2C","RNASET2","RNU7-1","RTEL1","RTL1","SAMHD1","SC5D","SLC12A1","SLC12A3","SLC20A2","SLC25A46","SLC26A2","SLC29A3","SLC2A1","SLC34A2","SLC46A1","SLC4A4","SMAD6","SMARCB1","SNORD118","SNRPB","SPINK1","STAT1","STAT2","STX16","SUCLA2","SUFU","TCIRG1","TERC","TERT","THRB","TINF2","TNFRSF11A","TNFRSF11B","TNFRSF1A","TOM1","TREM2","TREX1","TSC1","TSC2","TTC7A","TYMS","TYROBP","USB1","USP18","VPS33A","VPS35L","WRAP53","WRN","WWOX","XPR1","ZBTB20","ZMPSTE24","ZNFX1","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PARTIAL_ANOMALOUS_PULMONARY_VENOUS_RETURN":{"collection":"C5:HPO","systematicName":"M43379","pmid":"","exactSource":"HP:0010773","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010773","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PARTIAL_ANOMALOUS_PULMONARY_VENOUS_RETURN","geneSymbols":["CIROP","FOXF1","GATA1","MED12","MYRF","NODAL","SMAD2","SMC1A","TMEM260","WT1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPERACUSIS":{"collection":"C5:HPO","systematicName":"M37646","pmid":"","exactSource":"HP:0010780","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010780","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERACUSIS","geneSymbols":["BAZ1B","BCL7B","BUD23","CLIP2","DEAF1","DNAJC30","EIF4H","ELN","FKBP6","FLII","GM2A","GTF2I","GTF2IRD1","GTF2IRD2","HEXB","IQSEC2","LIMK1","METTL27","MLXIPL","NCF1","PPM1D","RAI1","RFC2","STX1A","TBL2","TMEM270","TRIO","VPS37D"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SKIN_DIMPLE":{"collection":"C5:HPO","systematicName":"M37647","pmid":"","exactSource":"HP:0010781","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010781","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SKIN_DIMPLE","geneSymbols":["AEBP1","AFF3","ALPL","ANK1","ARID1B","ASXL1","ATIC","B3GLCT","B9D2","BAP1","BAZ1B","BCL7B","BICD2","BUD23","CAMK2G","CAPN15","CCL2","CD96","CDK10","CLIP2","COL25A1","COLEC10","COX7B","CPLX1","CTBP1","CTCF","DCHS1","DEAF1","DHCR7","DHPS","DICER1","DNAJC30","DPAGT1","DVL1","DVL3","DYRK1A","EBP","EIF4H","ELN","EPHB4","ERGIC1","EXTL3","FANCB","FANCF","FAT4","FGFRL1","FKBP6","FUZ","FZD2","GNB2","GRB10","GTF2I","GTF2IRD1","GTF2IRD2","H4C5","HCCS","HIC1","HNRNPK","HOXA13","IL6ST","KANSL1","KCNK9","KIF15","KMT2A","LETM1","LIFR","LIG4","LIMK1","MAN2C1","MASP1","MED12","METTL27","MLXIPL","NADSYN1","NCAPG2","NCF1","NDUFB11","NELFA","NSD2","NSUN2","NXN","ODC1","OTUD6B","PAFAH1B1","PIGG","POLA1","PRMT7","PRR12","PSMD12","RAB23","RFC2","RMRP","ROR2","RPL10","SCARF2","SCYL2","SETD5","SHANK3","SMC5","SMG9","SMOC1","SOX9","SPOP","STX1A","SUGCT","TAF1","TBL2","TBX4","TBXT","TCF4","TMCO1","TMEM270","USP9X","VANGL1","VANGL2","VPS37D","WLS","WNT5A","YWHAE","ZIC3","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ERYTHEMA":{"collection":"C5:HPO","systematicName":"M37648","pmid":"","exactSource":"HP:0010783","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010783","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ERYTHEMA","geneSymbols":["ADAM17","ADGRE2","AIP","ALDH3A2","ALOX12B","ALOXE3","ANAPC1","AP1S1","AQP5","ATP2C1","BLM","C1QB","CD28","CDKN1B","CHST8","CLEC7A","COL1A1","COL7A1","COX7B","CSTA","CTLA4","CTSB","DDB2","DDR2","DSG4","DSP","DST","EGFR","ELOVL4","ERCC2","ERCC3","ERCC4","ERCC5","FECH","FERMT1","GCGR","GJA1","GJA5","GJA8","GJB3","GJB4","GLUL","GNB2","HCCS","HLA-B","HLA-DQB1","HLA-DRB1","HPGD","IKBKG","IKZF1","IL17F","IL17RA","IL17RC","IL36RN","ITGA3","KCNQ2","KDSR","KIT","KRT1","KRT10","KRT14","KRT2","KRT5","KRT83","LIG4","LIPN","LORICRIN","LRP1","MBTPS2","MEFV","MT-CO1","MT-CO2","MT-CO3","MT-ND1","MT-ND4","MT-ND5","MT-ND6","MT-TF","MT-TH","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TW","MVK","NAXD","NDUFB11","NLRP3","NOD2","NSDHL","PDGFB","PEPD","PERP","PGM3","PIGL","PLCG2","PORCN","PSMB8","PSMG2","RECQL4","RHOH","RNF168","SCN10A","SCN11A","SCN9A","SERPING1","SLC39A4","SLURP1","SREBF1","STAT3","STING1","SULT2B1","TGM1","TGM5","TNFRSF1A","TNFRSF1B","TRAF3IP2","TREX1","TRPM4","TRPV3","USP8","WNT10A","XPA","XPC","XPNPEP2","XRCC4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_GONADAL_NEOPLASM":{"collection":"C5:HPO","systematicName":"M37649","pmid":"","exactSource":"HP:0010785","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010785","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GONADAL_NEOPLASM","geneSymbols":["AKT1","APC2","AR","BARD1","BCL10","BMPR1A","BRCA1","BRCA2","BRIP1","CCND1","CDC73","CDH1","CDKN1B","CDKN1C","CDKN2A","CHEK2","CREBBP","CTNNB1","CYP11B1","DHH","DHX37","DICER1","DMRT3","EP300","EPCAM","ERBB2","EWSR1","FAN1","FGFR2","FGFR3","FLI1","FOXE1","GATA4","HNF1B","IDH1","IDH2","IGF2","KANSL1","KCNQ1","KCNQ1OT1","KEAP1","KIT","KRAS","LMNA","MAP3K1","MBD4","MC2R","MDM2","MLH1","MLH3","MNX1","MRAP","MRE11","MSH2","MSH3","MSH6","NBN","NNT","NR0B1","NR5A1","NSD1","OPCML","PALB2","PALLD","PAX6","PDE11A","PIK3CA","PMS1","PMS2","PRKAR1A","PRKN","PTCH1","PTEN","RABL3","RAD50","RAD51","RAD51C","RAD51D","RELA","RNF43","RPS20","SEMA4A","SETBP1","SETD2","SMAD4","SOX9","SPRED1","SRY","STAG3","STAR","STK11","STS","TGFBR2","TP53","TXNRD2","VAMP7","VHL","WNT10A","WRN","WT1","WWOX","ZFPM2","ZFTA"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_URINARY_TRACT_NEOPLASM":{"collection":"C5:HPO","systematicName":"M37650","pmid":"","exactSource":"HP:0010786","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010786","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_URINARY_TRACT_NEOPLASM","geneSymbols":["AAGAB","AKT1","ALX4","APC","ARMC5","ASXL1","ATP7A","AURKA","AXIN2","B3GALT6","BAP1","BAX","BLM","BMPER","BMPR1A","BRAF","BRCA2","BUB1","BUB1B","BUB3","C1S","CCND1","CDC73","CDKN1B","CDKN1C","CDKN2A","CEP57","CHEK2","COL14A1","CTNNB1","DCC","DHX37","DICER1","DIS3L2","DLC1","DLST","DMRT3","EP300","EPCAM","EXT2","FAN1","FERMT1","FGFR3","FH","FIBP","FLCN","FOXE1","GATA4","GNAS","GPC3","GPC4","H19","HABP2","HDAC4","HNF1A","HNF1B","HRAS","IFNG","IGF2","KCNQ1","KCNQ1OT1","KEAP1","KIF1B","KLLN","KRAS","LMNA","MAP3K1","MAX","MCC","MDH2","MDM2","MET","MINPP1","MLH1","MLH3","MSH2","MSH6","MVK","NF1","NOD2","NR0B1","NR5A1","NRAS","NTHL1","OGG1","PALB2","PAX6","PBRM1","PDGFRL","PHF21A","PIK3CA","PLA2G2A","PMS1","PMS2","POT1","POU6F2","PRCC","PTCH1","PTEN","PTPN12","PTPRJ","RAD54B","RB1","REST","RET","RNF139","RNF43","RPS20","SDHA","SDHAF2","SDHB","SDHC","SDHD","SEC23B","SEMA4A","SETBP1","SLC25A11","SMARCA4","SOX9","SPRED1","SRC","SRY","STK11","TFE3","TGFBR2","TLR2","TMEM127","TP53","TRIM28","TRIM37","TRIP13","TSC1","TSC2","USF3","VAMP7","VHL","WRN","WT1","WWOX","ZFPM2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_GENITAL_NEOPLASM":{"collection":"C5:HPO","systematicName":"M37651","pmid":"","exactSource":"HP:0010787","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010787","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENITAL_NEOPLASM","geneSymbols":["AAGAB","AKT1","APC","APC2","AR","AURKA","AXIN2","BARD1","BAX","BCL10","BMPR1A","BRAF","BRCA1","BRCA2","BRIP1","BUB1","BUB1B","BUB3","CCND1","CDC73","CDH1","CDKN1B","CDKN1C","CDKN2A","CEP57","CHEK2","COL14A1","COL4A5","COL4A6","COQ6","CREBBP","CTNNB1","CYP11B1","DCC","DHH","DHX37","DICER1","DLC1","DMRT3","DOCK8","EP300","EPCAM","EPHB2","ERBB2","EWSR1","FAN1","FGFR2","FGFR3","FH","FLCN","FLI1","FOXE1","GATA4","GREM1","HNF1B","IDH1","IDH2","IGF2","KANSL1","KCNQ1","KCNQ1OT1","KEAP1","KIT","KLF6","KLLN","KRAS","LMNA","LZTR1","MAD1L1","MAP3K1","MBD4","MC2R","MCC","MDM2","MLH1","MLH3","MNX1","MRAP","MRE11","MSH2","MSH3","MSH6","MXI1","NAB2","NBN","NF2","NNT","NR0B1","NR5A1","NRAS","NSD1","NTHL1","OPCML","PALB2","PALLD","PAX6","PDE11A","PDGFRL","PIK3CA","PLA2G2A","PMS1","PMS2","POLD1","POLE","PRKAR1A","PRKN","PTCH1","PTEN","PTPN12","PTPRJ","RABL3","RAD50","RAD51","RAD51C","RAD51D","RAD54B","RELA","RNASEL","RNF43","RPS20","SDHB","SDHC","SDHD","SEC23B","SEMA4A","SETBP1","SETD2","SLC6A17","SMAD4","SMARCB1","SOX9","SPRED1","SRC","SRY","STAG3","STAR","STAT6","STK11","STS","TGFBR2","TLR2","TP53","TRIP13","TXNRD2","USF3","VAMP7","VHL","WNT10A","WRN","WT1","WWOX","ZFHX3","ZFPM2","ZFTA"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_LEYDIG_CELLS":{"collection":"C5:HPO","systematicName":"M37652","pmid":"","exactSource":"HP:0010789","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010789","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_LEYDIG_CELLS","geneSymbols":["ALMS1","CYP11A1","FSHB","GNAS","LHB","MC2R","MRAP","NNT","PDE11A","PRKAR1A","SMS","STAR","TXNRD2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_IMPAIRED_VISUOSPATIAL_CONSTRUCTIVE_COGNITION":{"collection":"C5:HPO","systematicName":"M37653","pmid":"","exactSource":"HP:0010794","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010794","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRED_VISUOSPATIAL_CONSTRUCTIVE_COGNITION","geneSymbols":["ABCD1","BPTF","CACNA1H","DARS2","ELN","GABRA1","GABRB3","GABRG2","HTT","JRK","KCNC3","MAPT","MLXIPL","MT-CO1","MT-CO2","MT-CO3","MT-ND1","MT-ND4","MT-ND5","MT-ND6","MT-TF","MT-TH","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TW","NF1","NOTCH3","PMPCA","POMT1","PRKAR1B","PSMD12","SLC2A1","SLC2A3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HEMANGIOBLASTOMA":{"collection":"C5:HPO","systematicName":"M37654","pmid":"","exactSource":"HP:0010797","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010797","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEMANGIOBLASTOMA","geneSymbols":["BMPR1A","CCND1","DLST","FH","KIF1B","MAX","MDH2","NF1","PTEN","RET","SDHA","SDHAF2","SDHB","SDHC","SDHD","SLC25A11","TMEM127","VHL"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_EVERTED_UPPER_LIP_VERMILION":{"collection":"C5:HPO","systematicName":"M37655","pmid":"","exactSource":"HP:0010803","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010803","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EVERTED_UPPER_LIP_VERMILION","geneSymbols":["AP4B1","AP4E1","AP4M1","AP4S1","CREBBP","DIS3L2","DNMT3A","EDA","EDA2R","EDAR","EDARADD","EPG5","GBA1","H4C9","KCNH1","KCNK4","KIF7","MAP1B","NAA10","RAI1","SETD1A","SMARCA4","TCF3","WDR26"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_TENTED_UPPER_LIP_VERMILION":{"collection":"C5:HPO","systematicName":"M37656","pmid":"","exactSource":"HP:0010804","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010804","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TENTED_UPPER_LIP_VERMILION","geneSymbols":["ADAMTSL1","ALDH6A1","ANKRD11","ATRX","BAP1","BRAT1","CACNA2D1","CDC42","CDON","CHAMP1","CHMP1A","CLCN3","CSF1R","CYFIP2","DCHS1","DDB1","DEAF1","DENND5A","DIS3L2","DISP1","DLK1","DLL1","DMPK","DPM1","EEF1A2","FAT4","FBXO28","FGF8","FGFR1","FLII","FOXG1","FOXH1","FZD2","GALNT2","GAS1","GLI2","GNAI1","GOLGA2","GPC4","H3-3A","HOXB1","IER3IP1","IL1RAPL1","IQSEC2","KCNH1","KCNJ6","KCNK9","KDM4B","MBD5","MECP2","MED25","MEG3","MEIS2","MESD","MICU1","MSL3","MYL2","MYOD1","NALCN","NCAPG2","NEXMIF","NODAL","NRCAM","NSRP1","NXN","PAX3","PGAP2","PGAP3","PIGB","PIGL","PIGN","PIGO","PIGT","PIGV","PIGW","PIGY","PLAA","PPP1R21","PPP2R1A","PREPL","PRKACB","PTCH1","PURA","RAB11B","RAI1","RAPSN","ROR2","RSPRY1","RTL1","RYR1","SCN4A","SHH","SIX3","SLC25A46","SMPD4","STRADA","SUFU","TAF8","TBCK","TCF20","TDGF1","TGFB3","TGIF1","TMEM147","TMEM237","TTC5","UFC1","UNC80","WDR4","ZIC2","ZNHIT3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_U_SHAPED_UPPER_LIP_VERMILION":{"collection":"C5:HPO","systematicName":"M37657","pmid":"","exactSource":"HP:0010806","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010806","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_U_SHAPED_UPPER_LIP_VERMILION","geneSymbols":["ATRX","CDK19","DPM1","EHMT1","MAPK1","ZC4H2","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_OPEN_BITE":{"collection":"C5:HPO","systematicName":"M37658","pmid":"","exactSource":"HP:0010807","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010807","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OPEN_BITE","geneSymbols":["ADAMTS2","AMELX","ARSK","ATP6V1B2","BAZ1B","BCL7B","BMP2","BRAF","BUD23","CLIP2","CUL4B","DNAJC30","DSPP","DVL1","DVL3","EIF4H","ELN","ENAM","FAM83H","FGFR2","FGFR3","FKBP6","FZD2","GNAI3","GPR68","GTF2I","GTF2IRD1","GTF2IRD2","HNRNPH1","HNRNPK","ITGB6","KCNH1","KCNMA1","KCNN3","KLK4","LIMK1","METTL27","MLXIPL","MMP20","NCF1","NOTCH2","NXN","OCRL","OFD1","PDE4D","POLR1B","POLR1C","POLR1D","PORCN","PRKAR1A","PTEN","RAI1","RELT","RFC2","ROR2","RUNX2","SOBP","STX1A","TBL2","TCOF1","TMEM270","TWIST1","VPS37D","WNT5A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PROTRUDING_TONGUE":{"collection":"C5:HPO","systematicName":"M37659","pmid":"","exactSource":"HP:0010808","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010808","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROTRUDING_TONGUE","geneSymbols":["ADGRG1","ATRX","CCDC22","CDCA7","CLIC2","COG7","CSNK2A1","CSNK2B","DHX30","DNM1","DNMT3B","EHMT1","FAM20C","FBXO28","FTO","GATA1","GLB1","GRIK2","HELLS","INPP5E","KIF7","LAMA2","LMNB1","MGAT2","NEU1","NFIX","NRXN1","OCA2","PEX1","PI4KA","PIGB","PTH1R","RALGAPA1","SET","SLC25A24","SLC35C1","SNRPN","SRPX2","TAF1","TRIP11","UBE3A","VPS13A","ZBTB24","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NEVUS_SEBACEOUS":{"collection":"C5:HPO","systematicName":"M46184","pmid":"","exactSource":"HP:0010815","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010815","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEVUS_SEBACEOUS","geneSymbols":["BRAF","HRAS","KRAS","NRAS","SMO"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_EPIDERMAL_NEVUS":{"collection":"C5:HPO","systematicName":"M37660","pmid":"","exactSource":"HP:0010816","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010816","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EPIDERMAL_NEVUS","geneSymbols":["AKT1","BRAF","HRAS","KRAS","LEMD3","NEK9","NRAS","NSDHL","PIK3CA","PTEN","SMO","XPA"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_GENERALIZED_TONIC_SEIZURE":{"collection":"C5:HPO","systematicName":"M43380","pmid":"","exactSource":"HP:0010818","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010818","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENERALIZED_TONIC_SEIZURE","geneSymbols":["ADGRV1","ARHGEF9","ARX","CACNA1A","CACNB4","CASK","CDKL5","CHD2","COG2","COQ8A","CPLX1","CUX2","DMXL2","DNM1","DOCK7","DPM1","EEF1A2","GABRA1","GABRB3","GABRG2","GNAO1","GNB1","GRIN1","GRIN2A","GRM7","HCN2","KARS1","KCNA1","KCNQ2","KCNQ3","KCNT1","MAPK10","MDH2","NECAP1","NEUROD2","PACS2","PAFAH1B1","PCDH19","PIGP","PIGQ","PIGT","PNKP","PRRT2","RPL10","SATB1","SCN1A","SCN1B","SCN2A","SCN8A","SCN9A","SIK1","SLC1A2","SLC25A22","SLC32A1","SLC6A19","STXBP1","TANGO2","TBCD","TRIM8","TUBA1A","VPS50"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ATONIC_SEIZURE":{"collection":"C5:HPO","systematicName":"M37661","pmid":"","exactSource":"HP:0010819","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010819","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ATONIC_SEIZURE","geneSymbols":["ADGRG1","ADGRV1","AKT3","ALDH4A1","ALDH7A1","ALG13","AP2M1","ARFGEF1","ARX","ASAH1","ATP6AP2","CACNA1A","CAMK2B","CASK","CDKL5","CEP85L","CHD2","COX8A","CSNK2A1","CTNNA2","CUX2","DMXL2","DNM1","DOCK7","DOHH","DPM1","DYRK1A","EPM2A","FRRS1L","FZR1","GABRA1","GABRB3","GABRD","GABRG2","GAMT","GNAO1","GNB1","GNB2","GOSR2","GPAA1","GRIK2","GRIN1","GRIN2A","GRM7","HCN1","HCN2","HNRNPU","IQSEC2","KCNA1","KCNB1","KCNC2","MAPK10","MAST3","MTHFS","MTOR","NEUROD2","NEXMIF","NGLY1","NHLRC1","PAFAH1B1","PCDH19","PHGDH","PIGM","PIGP","PIGQ","PIK3CA","PLPBP","PNKP","PRICKLE1","PRMT7","PTEN","RUSC2","SCN1A","SCN1B","SCN2A","SCN9A","SIK1","SLC25A22","SLC2A1","SLC32A1","SLC6A1","ST3GAL3","STX1B","STXBP1","SYNGAP1","TRIM8"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_SEVENTH_CRANIAL_NERVE":{"collection":"C5:HPO","systematicName":"M45441","pmid":"","exactSource":"HP:0010827","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010827","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_SEVENTH_CRANIAL_NERVE","geneSymbols":["ABCA1","ACTA1","ADA2","ADCY6","ADGRG1","ADNP","AGRN","AK9","AKT1","ALG14","ALG2","AMER1","ANKH","ANO5","ANTXR1","ASAH1","BAG3","BAP1","BICRA","BIN1","BMS1","BTNL2","CAPN3","CFL2","CHAT","CHCHD10","CHD7","CHKB","CHRNA1","CHRNB1","CHRND","CHRNE","CLCN7","CNTNAP1","COL12A1","COL13A1","COL25A1","COL6A1","COL6A2","COL6A3","COLQ","CRLF1","CRPPA","CRYAB","DES","DLL4","DMPK","DNAJB6","DNM2","DOK7","DPAGT1","EYA1","FKRP","FKTN","FRG1","GAN","GFPT1","GJA1","GJC2","GLE1","GMPPB","GNE","GSN","HK1","HLA-DRB1","HOXB1","ITGB4","KBTBD13","KIF1B","KLHL40","KLHL41","KMT2D","KY","LAMA2","LAMB2","LARGE1","LMOD3","LRP12","LRP4","LRP5","MEGF10","MGME1","MPZ","MTM1","MTMR14","MTMR2","MTRFR","MUSK","MYH7","MYL2","MYMK","MYMX","MYO9A","MYPN","NEB","NEFL","NF2","NOD2","OSTM1","PABPN1","PDGFB","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PI4KA","PIK3CA","PLEC","PLXND1","POLG","POLG2","POMT1","POMT2","PTDSS1","PTRH2","PUF60","RAPSN","REV3L","RRM2B","RYR1","SALL4","SCN4A","SCO2","SELENON","SEMA3E","SGCD","SH3TC2","SHMT2","SIX1","SIX5","SLC12A6","SLC18A3","SLC19A3","SLC25A1","SLC25A4","SLC39A14","SLC52A2","SLC52A3","SLC5A7","SMARCB1","SMARCE1","SMCHD1","SMO","SNAP25","SNX10","SOST","SPEG","SPTBN4","SQSTM1","SRPX2","STAG2","SUCLA2","SUFU","SUPT16H","SYNE1","SYT2","TCIRG1","TERT","TFAP2A","TFG","TGFB1","TK2","TOR1A","TPM2","TPM3","TRAF7","TRIM32","TRPV4","TTN","TUBB3","TUBB6","TWNK","UBA1","UBA2","UBE2T","VAMP1","VCP","XRCC2","YME1L1","ZC4H2","ZFHX4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HEMIFACIAL_SPASM":{"collection":"C5:HPO","systematicName":"M37662","pmid":"","exactSource":"HP:0010828","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010828","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEMIFACIAL_SPASM","geneSymbols":["AKT1","BAP1","INPP5E","NF2","PDGFB","PIK3CA","SMARCB1","SMARCE1","SMO","SUFU","TERT","TRAF7"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_IMPAIRED_TEMPERATURE_SENSATION":{"collection":"C5:HPO","systematicName":"M37663","pmid":"","exactSource":"HP:0010829","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010829","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRED_TEMPERATURE_SENSATION","geneSymbols":["ABCA1","AEBP1","ATL1","ATL3","ATP1A2","CACNA1A","HEXB","HPGD","HSPB1","JAG1","KRT1","KRT16","KRT9","LMX1B","MAGEL2","MFN2","NDN","NGF","NTRK1","OCA2","PMP22","PRDM12","PRRT2","RNF170","SCN1A","SCN9A","SIM1","SLCO2A1","SNRPN","SPTLC1","SPTLC2","TGM1","ZFHX2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_IMPAIRED_TACTILE_SENSATION":{"collection":"C5:HPO","systematicName":"M37664","pmid":"","exactSource":"HP:0010830","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010830","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRED_TACTILE_SENSATION","geneSymbols":["ADA2","ATL1","ATL3","ATP13A2","ATXN1","BSCL2","CLTCL1","DCAF8","DDHD1","DHH","GALC","GDAP1","HARS1","HK1","KLHL9","KRT1","KRT16","KRT9","MORC2","MPV17","MTRFR","NARS1","NDRG1","PLEKHG4","PMP22","PNPT1","POLG","RAB7A","RNF170","SACS","SCN9A","SETX","SPTLC1","SPTLC2","TWNK","VCP","VWA1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_IMPAIRED_PROPRIOCEPTION":{"collection":"C5:HPO","systematicName":"M37665","pmid":"","exactSource":"HP:0010831","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010831","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRED_PROPRIOCEPTION","geneSymbols":["AARS1","ABCD1","ALDH18A1","AMPD2","APTX","ARSI","ATL1","ATN1","ATP13A2","ATP1A1","ATXN1","ATXN2","ATXN3","ATXN8OS","B4GALNT1","BEAN1","BSCL2","CACNA1G","CADM3","CAMTA1","CHCHD10","CHP1","CPT1C","CYP7B1","DARS2","DCAF8","DDHD1","DHH","DHTKD1","DNAJC3","EGR2","ERBB3","ERLIN2","FAR1","FGF14","FLRT1","FLVCR1","FMR1","FXN","GARS1","GBA2","GCH1","GDAP1","GNB4","GPI","HARS1","HAX1","HINT1","HK1","HSPD1","IMPDH2","IRF2BPL","JAG1","KCNC3","KCND3","KIF1A","KIF5A","KLC2","KLHL9","KNSTRN","KPNA3","LITAF","LMNB1","LRSAM1","MAG","MFN2","MORC2","MPZ","MT-ATP6","MT-TE","MTRFR","MTTP","NAGLU","NDRG1","NEFH","NEFL","NGF","NIPA1","NOP56","NR4A2","OPA3","PDK3","PDXK","PDYN","PEX10","PEX6","PI4KA","PIEZO2","PIK3CD","PLD3","PLEKHG4","PLOD1","PMP2","PMP22","PNKP","PNPT1","POLG","POLR3A","POLR3B","POU4F1","PRDM12","PRKCG","PRORP","PRX","REEP1","REEP2","RFC1","RIPOR2","RNASEH1","RNF170","RTN2","SACS","SAMD9L","SAR1B","SCN9A","SCO2","SCP2","SETX","SH3TC2","SLC12A6","SLC25A15","SLC33A1","SORD","SPART","SPAST","SPG11","SPG7","SPTBN2","SPTLC1","SPTLC2","STUB1","SYNE1","TBP","TDP1","TGM6","TPP1","TTPA","TTR","TWNK","UBAP1","UCHL1","VAMP1","VCP","VPS13A","VPS13D","VPS37A","VPS41","WASHC5","WDR48","XK","XRCC1","ZFYVE26"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_PAIN_SENSATION":{"collection":"C5:HPO","systematicName":"M37666","pmid":"","exactSource":"HP:0010832","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010832","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_PAIN_SENSATION","geneSymbols":["ABCA1","ABCD1","AIFM1","ALDH18A1","ALDH4A1","ATL1","ATL3","ATP1A2","ATXN1","CACNA1A","CACNA2D1","CCT5","CDKL5","CHAMP1","CHST14","CLTCL1","DDHD1","DEAF1","DKK1","DNM1L","DSE","EBF3","ELP1","FAR1","FBN1","FLII","FMR1","GABBR2","GABRG2","GDAP1","GJB1","GNB4","GRIA3","GRIN2A","H19","HARS1","HDAC4","HERC2","HK1","HNRNPK","HSPB1","IARS2","IGF2","IL6ST","IQSEC2","JAG1","KCNQ1OT1","KDM5C","KIF1A","LIFR","LMX1B","MADD","MAGEL2","MCM3AP","MECP2","MEN1","MFN2","MKRN3","MPV17","MPZ","NEFL","NGF","NGLY1","NKX6-2","NLRP3","NPAP1","NTNG1","NTRK1","PDK3","PDXK","PEX16","PMP2","PMP22","PNPT1","PRDM12","PRNP","PRPS1","PRRT2","PWAR1","PWRN1","RAI1","RELA","RETREG1","RFX7","SCN10A","SCN11A","SCN1A","SCN9A","SCYL1","SDHA","SH3TC2","SHANK3","SMC1A","SNORD115-1","SNORD116-1","SORD","SPTLC1","SPTLC2","SRPX2","SYNGAP1","TDP1","TMEM218","TRIO","TRPM3","UBTF","VCP","WNK1","YY1","ZEB2","ZFHX2","ZFTA"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SPONTANEOUS_PAIN_SENSATION":{"collection":"C5:HPO","systematicName":"M41399","pmid":"","exactSource":"HP:0010833","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010833","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPONTANEOUS_PAIN_SENSATION","geneSymbols":["ATP1A2","CACNA1A","PMP22","PRRT2","SCN1A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_TROPHIC_CHANGES_RELATED_TO_PAIN":{"collection":"C5:HPO","systematicName":"M43381","pmid":"","exactSource":"HP:0010834","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010834","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TROPHIC_CHANGES_RELATED_TO_PAIN","geneSymbols":["ATL1","ATL3","NTRK1","SPTLC1","SPTLC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CIRCULATING_COPPER_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M37667","pmid":"","exactSource":"HP:0010836","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010836","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_COPPER_CONCENTRATION","geneSymbols":["AP1B1","AP1S1","ATP6AP1","ATP6V0A2","ATP7A","ATP7B","COG2","CP","FTH1","SCO2","SLC31A1","SLC33A1","SPATA5","TMPRSS6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DECREASED_CIRCULATING_CERULOPLASMIN_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M47160","pmid":"","exactSource":"HP:0010837","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010837","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_CIRCULATING_CERULOPLASMIN_CONCENTRATION","geneSymbols":["AP1B1","AP1S1","ATP7A","ATP7B","CCDC115","COG2","CP","SLC33A1","TMEM199"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MULTIFOCAL_EPILEPTIFORM_DISCHARGES":{"collection":"C5:HPO","systematicName":"M37669","pmid":"","exactSource":"HP:0010841","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010841","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MULTIFOCAL_EPILEPTIFORM_DISCHARGES","geneSymbols":["ACTL6B","ADK","ALDH7A1","ALG1","ARFGEF1","ARX","ASPA","ATP1A3","CACNA1G","CARS2","CASK","CDKL5","CHD2","CLN5","CLTCL1","DEPDC5","DMXL2","DOCK7","DOLK","DPYD","FGF12","GABBR2","GABRA1","GABRG2","GNAO1","GNB1","GRIN1","GRM7","KCNA1","KCNMA1","KCNQ2","KCNT1","LRPPRC","MECP2","MED13L","MYD88","NEUROD2","NPRL2","NPRL3","PCDH19","PIGA","PIGP","PIGQ","PIGT","PLCB1","PLPBP","PNKP","PPP3CA","SATB1","SCN1A","SCN1B","SCN2A","SCN8A","SCN9A","SIK1","SLC12A5","SLC25A10","SLC25A22","SLC32A1","SPTBN1","ST3GAL5","STXBP1","SUOX","TBC1D24","TRIM8","TUBB2A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_EEG_WITH_MULTIFOCAL_SLOW_ACTIVITY":{"collection":"C5:HPO","systematicName":"M37670","pmid":"","exactSource":"HP:0010844","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010844","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EEG_WITH_MULTIFOCAL_SLOW_ACTIVITY","geneSymbols":["AARS1","ACTL6B","AP3B2","ARV1","ATP1A2","ATP1A3","ATP6V1A","CACNA1A","CACNA1B","CACNA2D1","CDK19","CELF2","CLTC","CNKSR2","CYFIP2","DALRD3","DHDDS","DNM1","EEF1A2","FBXO28","FGF12","FGF13","FZR1","GABBR2","GABRA2","GABRA5","GABRB2","GABRG2","GRIN2A","GRIN2D","HCN1","KCNA2","KCNB1","NECAP1","NTRK2","NUS1","PACS2","PARS2","PIGY","PPP3CA","SCN3A","SCN8A","SLC13A5","SLC1A2","SLC38A3","SYNGAP1","SYNJ1","SZT2","TRAK1","UBA5","WWOX","YWHAG"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_EEG_WITH_GENERALIZED_SLOW_ACTIVITY":{"collection":"C5:HPO","systematicName":"M37671","pmid":"","exactSource":"HP:0010845","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010845","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EEG_WITH_GENERALIZED_SLOW_ACTIVITY","geneSymbols":["ALDH7A1","AP2M1","CDKL5","CHD2","CHMP2B","CLN5","CNTNAP2","CYP27A1","DOLK","DPAGT1","GRIA4","GRN","HID1","KPTN","LMNB1","MAPT","MECP2","MTHFS","NEXMIF","PLPBP","PSEN1","RNF13","SCN1A","SLC2A1","SLC6A1","SQSTM1","SYNGAP1","TMEM106B","TREM2","VCP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_EEG_WITH_SPIKE_WAVE_COMPLEXES_2_5_3_5_HZ":{"collection":"C5:HPO","systematicName":"M41400","pmid":"","exactSource":"HP:0010848","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010848","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EEG_WITH_SPIKE_WAVE_COMPLEXES_2_5_3_5_HZ","geneSymbols":["CACNA1H","GABRA1","GABRB3","GABRG2","JRK","KCNA2","SETD1B","SLC2A1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_EEG_WITH_SPIKE_WAVE_COMPLEXES":{"collection":"C5:HPO","systematicName":"M37673","pmid":"","exactSource":"HP:0010850","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010850","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EEG_WITH_SPIKE_WAVE_COMPLEXES","geneSymbols":["AASS","ADGRG1","ADGRV1","AGRN","AKT3","AP2M1","APC2","ARX","CACNA1H","CACNB4","CASK","CDKL5","CHAT","CHD2","CILK1","CLCN2","CLN5","COL13A1","CPA6","CSTB","DMXL2","EFHC1","GABRA1","GABRB3","GABRD","GABRG2","GNAO1","GOSR2","GRIN1","GRIN2A","GRM7","HCN1","JRK","KCNA1","KCNA2","KCNC2","KCNMA1","KCNQ3","MTOR","MYO9A","NEUROD2","NEXMIF","PAFAH1B1","PGAP2","PGAP3","PI4KA","PIGL","PIGO","PIGP","PIGQ","PIGT","PIGV","PIGW","PIGY","PIK3CA","PNKP","PRICKLE1","PSAT1","SAMD12","SCARB2","SCN1A","SCN1B","SCN2A","SCN8A","SCN9A","SETD1B","SIK1","SLC18A3","SLC25A1","SLC25A22","SLC2A1","SLC32A1","SLC5A7","SLC6A1","SNAP25","SRPX2","STARD7","STX1B","SYNGAP1","SYT1","SYT2","TBC1D24","TRIM8","VAMP1","YEATS2","YWHAG"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_EEG_WITH_BURST_SUPPRESSION":{"collection":"C5:HPO","systematicName":"M37674","pmid":"","exactSource":"HP:0010851","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010851","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EEG_WITH_BURST_SUPPRESSION","geneSymbols":["ABAT","AKT3","ALDH7A1","ALG11","ALG14","AMT","ARX","ASNS","ATP1A2","ATP6V0A1","BRAT1","C1QBP","CAMSAP1","CASK","CDK5","CDKL5","CNPY3","CUL3","CYFIP2","DMXL2","DNM2","DPM2","FGF13","GAD1","GLS","GNAO1","GNB1","GRIN1","GRM7","IER3IP1","KCNA1","KCNC2","KCNQ2","MOGS","MTOR","NEUROD2","NSF","PIGP","PIGQ","PIGS","PIK3CA","PLPBP","PNKP","PNPO","PRKAG2","SCN1B","SCN2A","SIK1","SLC25A22","SLC25A46","SLC32A1","STXBP1","TRIM8","UGDH","VARS2","ZNF148"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_EEG_WITH_PHOTOPAROXYSMAL_RESPONSE":{"collection":"C5:HPO","systematicName":"M46185","pmid":"","exactSource":"HP:0010852","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010852","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EEG_WITH_PHOTOPAROXYSMAL_RESPONSE","geneSymbols":["CERS1","FBXO28","GABRA1","MARCHF6","SAMD12","SHQ1","STARD7"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DELAYED_FINE_MOTOR_DEVELOPMENT":{"collection":"C5:HPO","systematicName":"M37675","pmid":"","exactSource":"HP:0010862","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010862","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DELAYED_FINE_MOTOR_DEVELOPMENT","geneSymbols":["APC2","AUTS2","BRPF1","CACNA1G","CARS1","CCNK","CDC40","CDH11","CDH2","CIT","CLCN3","CLCN7","CLP1","CNOT3","COL12A1","CTNNA2","DPH2","EBF3","FDXR","FIG4","FNIP1","GRIA1","ITPR1","KAT8","KCNK4","KDM4B","LNPK","MINPP1","NDST1","NFIA","PI4KA","POR","SEC24D","SFXN4","SIN3A","SNX14","SPTBN1","TET3","TMTC3","TNRC6B","TRAPPC6B","TRRAP","TSEN15","TUBB3","WASHC4","WLS"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RECEPTIVE_LANGUAGE_DELAY":{"collection":"C5:HPO","systematicName":"M37676","pmid":"","exactSource":"HP:0010863","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010863","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECEPTIVE_LANGUAGE_DELAY","geneSymbols":["AGO2","ALMS1","ATP9A","CNTNAP2","EHMT1","FLCN","FOXP2","GNB1","GRHL3","KMT2C","PAK1","SH2B1","SPATA5","UBB"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INTELLECTUAL_DISABILITY_SEVERE":{"collection":"C5:HPO","systematicName":"M37677","pmid":"","exactSource":"HP:0010864","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010864","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTELLECTUAL_DISABILITY_SEVERE","geneSymbols":["ABCC8","ACAT1","ACER3","ACO2","ACOX1","ACSL4","ACTL6B","ADCY5","ADGRG1","AHSG","AKT3","ALG13","ALG14","ALG2","AMMECR1","AMT","ANKLE2","AP1S2","AP4B1","AP4E1","AP4M1","AP4S1","APC2","ARFGEF2","ARG1","ARHGEF9","ARID1A","ARID1B","ARID2","ARX","ASPM","ASXL1","ASXL3","ATIC","ATP9A","ATRX","BCAP31","BCAS3","BCORL1","BRD4","BRF1","C2CD3","CA2","CACNA1D","CAMK2A","CAMK2G","CC2D1A","CCND2","CCNK","CDC40","CDK5RAP2","CDK6","CENPE","CENPJ","CEP135","CEP152","CEP63","CEP85L","CHRNA7","CIT","CLCN4","CNTNAP2","COG5","COLGALT1","COPB1","COPB2","CPLX1","CRBN","CTBP1","CTNNA2","CTNND2","CTSD","CUL3","CUL4B","CYB5A","CYB5R3","DAG1","DCHS1","DLAT","DMPK","DNMT3A","DPAGT1","DPF2","DPYSL5","DYM","DYNC1I2","DYRK1A","EEF1A2","EHMT1","EIF2S3","EML1","EPB41L1","ERLIN2","EXT2","FAT4","FCSK","FGF13","FGFR3","FGFRL1","FKRP","FKTN","FOXE1","FOXG1","FOXP1","FRMD4A","FRRS1L","FTCD","FUCA1","FZR1","GABBR2","GABRA5","GALNT2","GAMT","GATAD2B","GCK","GDI1","GLI3","GMPPB","GNAO1","GNB5","GOT2","GRIA1","GRIA3","GRIN1","GRIN2A","HDAC8","HERC1","HMGCL","HNMT","HNRNPH1","HNRNPK","HNRNPU","HPD","HSD17B10","HTT","INPP5E","INS","IQSEC1","IQSEC2","KANSL1","KAT5","KAT6A","KAT6B","KCNC2","KCNE5","KCNH1","KCNJ11","KCNJ6","KDM5C","KIF14","KIF1A","KIF5C","KIF7","KLF13","KMT2B","KNL1","L1CAM","L2HGDH","LARGE1","LARP7","LETM1","LINGO1","LMAN2L","LMX1B","MACF1","MAN1B1","MBD5","MBTPS2","MCM7","MCPH1","MECP2","MEF2C","METTL5","MFSD2A","MGAT2","MPDU1","MT-ATP6","MTOR","NACC1","NAGA","NALCN","NANS","NCAPD3","NDE1","NELFA","NEU1","NFIX","NIN","NIPBL","NKX2-1","NKX2-5","NRXN1","NSD1","NSD2","NTRK2","NUP37","OCA2","OFD1","OPHN1","OTUD6B","PAFAH1B1","PAH","PAK1","PAK3","PAX8","PCDH19","PCNA","PDHX","PDX1","PEX1","PEX5","PEX7","PGAP1","PGAP2","PGAP3","PHC1","PHF6","PHYH","PIGF","PIGG","PIGL","PIGO","PIGT","PIGU","PIGV","PIGW","PIGY","PIK3CA","PLEKHG2","PLP1","PNKP","POGZ","POMGNT1","POMT1","POMT2","PPIL1","PPP1R15B","PPP2R1A","PPP2R5D","PQBP1","PRMT7","PRSS12","PRUNE1","PSMB1","PSMC1","PTEN","PURA","PUS3","PYCR2","RAB18","RAB3GAP1","RAB3GAP2","RAB5IF","RAC3","RAD21","RFT1","RNF2","ROGDI","RPL10","RTTN","SARS1","SASS6","SATB1","SATB2","SCN1A","SCN2A","SCN8A","SEMA5A","SEMA6B","SETBP1","SETD2","SHMT2","SHROOM4","SIN3A","SLC12A2","SLC13A5","SLC16A2","SLC1A2","SLC25A15","SLC26A4","SLC35A2","SLC35A3","SLC35C1","SLC6A17","SLC9A6","SMARCA2","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SMC1A","SMC3","SMOC1","SNAP29","SNRPN","SNX14","SOBP","SON","SOX11","SOX4","SPATA5","SPTAN1","SPTBN4","SRD5A3","STAG1","STAT3","STIL","STXBP1","SUCLG1","SUOX","SYNGAP1","TAF13","TBC1D20","TBC1D23","TBR1","TCF4","TELO2","TFE3","THOC2","THOC6","TIMM50","TMEM107","TMEM163","TMEM231","TMEM237","TMX2","TOR1A","TPR","TRAPPC10","TRAPPC14","TRAPPC6B","TRAPPC9","TRIM8","TRMT10A","TSHB","TSHR","TTI2","TUBA1A","TUSC3","UBA5","UBE2A","UBE3A","UBE3B","UBE3C","UBE4A","UBTF","UNC80","UQCRQ","VPS4A","WARS1","WASF1","WDR11","WDR62","WDR81","WIPI2","YY1","ZBTB18","ZEB2","ZNF407","ZNHIT3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SENSORY_ATAXIA":{"collection":"C5:HPO","systematicName":"M37678","pmid":"","exactSource":"HP:0010871","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010871","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SENSORY_ATAXIA","geneSymbols":["AARS1","DNAJC3","EGR2","FLVCR1","GPI","KPNA3","MPZ","NAGLU","PIEZO2","PMP22","POLG","PRX","RNF170","SH3TC2","TWNK","UCHL1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_T_WAVE_INVERSION":{"collection":"C5:HPO","systematicName":"M46186","pmid":"","exactSource":"HP:0010872","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010872","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_T_WAVE_INVERSION","geneSymbols":["CLN3","GYG1","JUP","MYL2","MYL3","PRKAG2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CERVICAL_SPINAL_CORD_ATROPHY":{"collection":"C5:HPO","systematicName":"M46187","pmid":"","exactSource":"HP:0010873","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010873","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CERVICAL_SPINAL_CORD_ATROPHY","geneSymbols":["FXN","GFAP","NEFL","PI4KA","SPG7"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_TENDON_XANTHOMATOSIS":{"collection":"C5:HPO","systematicName":"M37679","pmid":"","exactSource":"HP:0010874","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010874","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TENDON_XANTHOMATOSIS","geneSymbols":["ABCG5","ABCG8","APOA1","APOA2","APOB","APOE","CETP","CYP27A1","EPHX2","GHR","LDLR","LDLRAP1","PCSK9","PPP1R17","TTPA"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CIRCULATING_PROTEIN_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M37680","pmid":"","exactSource":"HP:0010876","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010876","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_PROTEIN_CONCENTRATION","geneSymbols":["AASS","ABCA1","ABCC8","ABCC9","ABCG8","ABHD5","ACAD9","ACADM","ACADVL","ACSL5","ACTA1","ACTC1","ACTN2","ACTN4","ADA2","ADK","ADSS1","AFP","AGL","AGPAT2","AGXT","AHCY","AIFM1","ALB","ALDOA","ALG1","ALG12","ALG14","ALG2","ALG6","ALG8","AMACR","AMPD1","AMPD3","ANKFY1","ANKRD1","ANLN","ANO5","ANXA11","AP1B1","AP1S1","AP1S3","AP5Z1","APOA1","APOC2","APOL1","APPL1","APTX","AR","ARHGAP24","ARHGDIA","ARPC1B","ASAH1","ATM","ATP5F1D","ATP6V0A2","ATP6V1A","ATP6V1E1","ATP7A","ATP7B","B2M","B3GALNT2","B4GALT1","B4GAT1","BAG3","BAG5","BAZ1B","BCL10","BCL7B","BCS1L","BICD2","BIN1","BLK","BMP2","BMP6","BMPR1A","BSCL2","BUD23","BVES","C19orf12","C1QB","C1QBP","C2orf69","CA2","CACNA1S","CAP2","CAPN3","CARD10","CASK","CASQ1","CASR","CAV1","CAV3","CAVIN1","CBLIF","CCBE1","CCDC115","CCDC78","CCN6","CCND1","CCT5","CD244","CD2AP","CD55","CEL","CFL2","CFTR","CHCHD10","CHKB","CIDEC","CIITA","CLIP2","CNBP","CNOT1","CNTN1","COA7","COG2","COG6","COG7","COG8","COL12A1","COL25A1","COL4A1","COL4A3","COL6A1","COL6A2","COL6A3","COL7A1","COL9A3","COPA","COQ2","COQ8B","COX16","COX20","CP","CPA1","CPOX","CPT1A","CPT2","CRB2","CRLF1","CRPPA","CRYAB","CSF2RA","CSF2RB","CSRP3","CTLA4","CTNNB1","CTRC","DAAM2","DAG1","DCLRE1C","DCXR","DEF6","DES","DGAT1","DGKE","DGUOK","DHCR7","DHX16","DMD","DMGDH","DNA2","DNAJB4","DNAJB6","DNAJC21","DNAJC30","DNM2","DNMT3B","DOK7","DOLK","DPAGT1","DPM1","DPM2","DPM3","DSG1","DSG2","DSP","DUOX2","DUOXA2","DUX4","DUX4L1","DYSF","EARS2","EFL1","EIF2AK3","EIF4H","ELF4","ELN","EMD","EMP2","ENO3","EPG5","ERCC4","ERGIC1","FAH","FAM111B","FARSA","FARSB","FDX2","FGFR3","FHL1","FHL2","FKBP14","FKBP6","FKRP","FKTN","FLAD1","FLI1","FLNC","FN1","FOCAD","FOS","FOXI1","FOXP3","FRG1","FTH1","FTL","G6PD","GAA","GABRA3","GAPVD1","GATA1","GATAD1","GATB","GATC","GBE1","GCK","GFER","GFPT1","GGPS1","GIPC1","GLIS3","GLRX5","GMPPB","GNE","GNPTAB","GNPTG","GOLGA2","GOSR2","GPR35","GTF2I","GTF2IRD1","GTF2IRD2","GYG1","HACD1","HADH","HADHA","HADHB","HAMP","HAND2","HAVCR2","HBB","HESX1","HEXB","HFE","HHAT","HINT1","HJV","HLA-DPA1","HLA-DPB1","HLA-DQA1","HLA-DQB1","HLA-DRB1","HMOX1","HNF1A","HNF4A","HNRNPA1","HNRNPA2B1","HNRNPDL","HSPG2","IARS1","IFIH1","IFNG","IFNGR1","IGFALS","IL10","IL12A","IL12RB1","IL1RN","IL36RN","IL37","IL6","IL6R","IL6ST","INF2","INPP5K","INS","INSR","IRF5","IRF8","ISCA1","ISCU","ITGA3","ITGA7","ITGB2","ITGB4","ITK","IYD","JAG2","JPH2","KARS1","KBTBD13","KCNA1","KCNE3","KCNJ10","KCNJ11","KCNJ18","KCNN4","KIF12","KIF23","KIT","KLF1","KLF11","KLHL41","KLHL9","KLKB1","KNG1","KRT14","KRT5","KY","LACC1","LAMA1","LAMA2","LAMA4","LAMB2","LAMP2","LARGE1","LARS2","LDB3","LDHA","LHX3","LHX4","LIMK1","LIMS2","LIPE","LMNA","LMOD2","LMOD3","LPIN1","LPL","LRP12","LTBP4","LYRM7","LYST","MAD2L2","MAGI2","MATR3","MB","MCM10","MEFV","MEGF10","MET","METTL27","MGME1","MICOS13","MICU1","MIEF2","MIF","MKS1","MLIP","MLXIPL","MMEL1","MPDU1","MPI","MPV17","MPZ","MST1","MSTO1","MT-CO1","MT-CO3","MT-TE","MT-TL1","MT-TL2","MT-TN","MT-TS1","MTMR14","MTTP","MVK","MYBPC3","MYF6","MYH14","MYH6","MYH7","MYL1","MYL2","MYMK","MYO1E","MYO5B","MYOT","MYPN","NAB2","NARS2","NCF1","NCF4","NEB","NEFH","NEFL","NEUROD1","NEXN","NFKBIL1","NFS1","NGLY1","NLRC4","NLRP1","NLRP12","NLRP3","NOS1","NOS1AP","NOTCH2NLC","NPHS1","NPHS2","NPPA","NPR2","NR1H4","NSUN2","NUP107","NUP133","NUP160","NUP205","NUP37","NUP85","NUP93","OBSCN","OCRL","ORAI1","OSGEP","OTUD5","OTULIN","PABPN1","PAPPA2","PAX2","PAX4","PAX8","PDK3","PDSS2","PDX1","PET100","PEX6","PFKM","PGAM2","PGM1","PHKA1","PHKA2","PHKB","PHKG2","PIEZO1","PIEZO2","PIGA","PIGN","PIGY","PIK3CG","PIK3R5","PITRM1","PKD2","PKHD1","PKLR","PLA2G6","PLCE1","PLEC","PLEKHG5","PLG","PLIN4","PLN","PLVAP","PLXNA1","PMM2","PNKP","PNPLA2","POGLUT1","POLG","POLG2","POLRMT","POMGNT1","POMGNT2","POMK","POMP","POMT1","POMT2","POPDC3","POU1F1","POU2AF1","PPARG","PPCS","PRDM16","PRF1","PRKCD","PROP1","PRPS1","PRSS1","PRSS2","PRTN3","PRUNE1","PSEN1","PSEN2","PSMB8","PSTPIP1","PTEN","PTPN22","PTPRO","PUS1","PYGM","PYROXD1","QRICH1","QRSL1","RAF1","RAG1","RAG2","RASA1","RBCK1","RBM20","RBP4","RFC2","RFX5","RFXANK","RFXAP","RHAG","RHCE","RHD","RILPL1","RNASEH1","RNF168","RNU7-1","RPL3L","RRM2B","RXYLT1","RYR1","SAR1B","SBDS","SCARB2","SCN4A","SCN5A","SCO2","SCYL2","SDHA","SDHD","SEMA4D","SERPINA1","SERPINE1","SETX","SGCA","SGCB","SGCD","SGCG","SGPL1","SH2D1A","SIL1","SKIC3","SLC12A6","SLC16A1","SLC19A1","SLC22A4","SLC22A5","SLC25A13","SLC25A20","SLC25A36","SLC25A38","SLC25A4","SLC25A42","SLC26A4","SLC2A1","SLC30A10","SLC30A9","SLC31A1","SLC33A1","SLC34A1","SLC34A2","SLC34A3","SLC35A2","SLC39A14","SLC40A1","SLC4A1","SLC4A4","SLC5A5","SLC7A7","SLCO2A1","SMAD4","SMCHD1","SPEG","SPIB","SPINK1","SPTBN4","SQOR","SQSTM1","SRP54","STAT2","STAT6","STEAP3","STIM1","STING1","STK11","STX11","STX1A","STXBP2","SUCLA2","SUGCT","SUOX","SVIL","SYK","SYNE1","SYNE2","SYNJ1","TAF1A","TAFAZZIN","TANGO2","TBC1D8B","TBCD","TBK1","TBL2","TCAP","TCF4","TDP1","TF","TFAM","TFG","TFR2","TG","THRB","TIA1","TICAM1","TIMM22","TK2","TKFC","TLR3","TMEM165","TMEM199","TMEM270","TMEM43","TMPO","TMPRSS15","TMPRSS6","TMTC3","TNFRSF1A","TNFSF15","TNNC1","TNNI3","TNNT1","TNNT2","TNPO3","TOP3A","TOR1AIP1","TPM1","TPM2","TPM3","TPO","TRAF3","TRAPPC11","TRAPPC2L","TRHR","TRIM32","TRIP4","TRMU","TRPC6","TRPV4","TSFM","TSHB","TSHR","TTC26","TTN","TTR","TWNK","TXNRD2","UBA1","UBR1","UCP2","UNC13D","UNC93B1","UQCRFS1","UROS","USB1","VAC14","VAPB","VCL","VCP","VEZF1","VMA21","VPS13A","VPS33A","VPS37D","WDR4","WDR73","WT1","XIAP","XK","YME1L1","ZBTB20","ZNFX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INCREASED_NUCHAL_TRANSLUCENCY":{"collection":"C5:HPO","systematicName":"M37681","pmid":"","exactSource":"HP:0010880","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010880","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_NUCHAL_TRANSLUCENCY","geneSymbols":["ADARB1","ARSL","ATN1","BAZ1B","BCL7B","BMPER","BRD4","BUB1","BUB1B","BUB3","BUD23","CEP57","CLIP2","CSGALNACT1","DHCR7","DHPS","DNAJC30","DOHH","EIF4H","ELN","EPHB4","FGFR3","FIG4","FKBP6","GPC6","GTF2I","GTF2IRD1","GTF2IRD2","HDAC8","HNRNPK","LBR","LIMK1","LZTR1","METTL27","MLXIPL","MUSK","MYL11","NCF1","NIPBL","ODC1","PIGN","RAD21","RFC2","SMC1A","SMC3","STAG1","STX1A","TBL2","TMEM270","TRIP11","TRIP13","TXNDC15","VAC14","VPS37D"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_UMBILICAL_CORD":{"collection":"C5:HPO","systematicName":"M37682","pmid":"","exactSource":"HP:0010881","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010881","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_UMBILICAL_CORD","geneSymbols":["ADGRG6","C1QC","CACNA1C","CCDC22","CLPB","DDX6","DPF2","DPYSL5","F13A1","F13B","F7","FANCB","FANCF","FAT4","FCGR3B","FOXF1","G6PC3","GATA6","GNB2","HNRNPK","HOXD13","HSPG2","IL6ST","ITGB2","LMNA","MCTP2","MKS1","MTHFS","MUSK","MYD88","MYH7","NRAS","PACS1","PAK2","PGAP2","PGAP3","PHGDH","PIGL","PIGO","PIGV","PIGW","PIGY","POR","QRICH1","RAC2","RBCK1","SCARF2","SERPINE1","SLC30A9","SMARCD2","SPECC1L","STAG1","TAPT1","THSD1","TLK2","TRAF7","TWIST2","VPS35L","WASHC5","WNT3","WT1","ZMPSTE24","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_AVASCULAR_NECROSIS":{"collection":"C5:HPO","systematicName":"M37683","pmid":"","exactSource":"HP:0010885","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010885","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AVASCULAR_NECROSIS","geneSymbols":["ACAN","ACTB","ACTG1","ADAMTS2","ADAMTSL2","ARSB","ATP7A","ATRX","BRAF","C4A","CCR1","CDH23","CLCN7","COL1A1","COL1A2","COL2A1","COL9A2","COMP","CREBBP","CTC1","DKC1","DVL1","DVL3","DYRK1A","ELP1","EP300","ERAP1","EXT1","FAS","FGFR1","FN1","FZD2","GBA1","HBB","HLA-B","HPGD","IFNGR1","IL10","IL12A","IL12A-AS1","IL23R","IL6ST","INPP5K","KLRC4","KRAS","LMNA","LMX1B","MAN2B1","MATN3","MEFV","MMP13","NEK9","NHP2","NOP10","NPM1","NR3C1","NTRK1","ORC1","PARN","PHF6","PTPN11","RAB3GAP2","RAD21","RTEL1","SCARB2","SH3PXD2B","SIL1","SKIC3","SLC2A10","SLCO2A1","SMAD3","SRCAP","STAT4","TERC","TERT","TINF2","TLR4","TONSL","TP53","TREX1","TRPS1","TRPV4","TYMS","UBAC2","UFSP2","UNC45A","USB1","USP48","USP8","WNT5A","WRAP53","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_OSTEOCHONDRITIS_DISSECANS":{"collection":"C5:HPO","systematicName":"M46188","pmid":"","exactSource":"HP:0010886","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010886","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OSTEOCHONDRITIS_DISSECANS","geneSymbols":["ACAN","COL9A2","LMX1B","MMP13","ORC1","SMAD3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CIRCULATING_BRANCHED_CHAIN_AMINO_ACID_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M37684","pmid":"","exactSource":"HP:0010892","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010892","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_BRANCHED_CHAIN_AMINO_ACID_CONCENTRATION","geneSymbols":["ATP5F1B","BCAT2","BCKDHA","BCKDHB","BCKDK","DBT","DLD","MCCC1","MCCC2","MICU1","PPM1K"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CIRCULATING_PHENYLALANINE_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M37685","pmid":"","exactSource":"HP:0010893","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010893","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_PHENYLALANINE_CONCENTRATION","geneSymbols":["FTCD","GCH1","IMPDH2","NR4A2","PAH","PCBD1","PTS","QDPR","SPR"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CIRCULATING_SERINE_FAMILY_AMINO_ACID_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M37686","pmid":"","exactSource":"HP:0010894","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010894","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_SERINE_FAMILY_AMINO_ACID_CONCENTRATION","geneSymbols":["ALDH4A1","AMT","ATP5F1A","BOLA3","COX8A","GLDC","GLRX5","GLYCTK","IBA57","IRF6","MMAA","MMAB","MMUT","NFS1","NFU1","PCCA","PCCB","PET117","PHGDH","PNPO","PSAT1","PSPH","SARDH","SLC25A13","SLC30A10","SLC36A2","SLC6A18","SLC6A19","SLC6A20","SLC7A7","SUCLG1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CIRCULATING_GLYCINE_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M37687","pmid":"","exactSource":"HP:0010895","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010895","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_GLYCINE_CONCENTRATION","geneSymbols":["ALDH4A1","AMT","ATP5F1A","BOLA3","COX8A","GLDC","GLRX5","GLYCTK","IBA57","IRF6","MMAA","MMAB","MMUT","NFS1","NFU1","PCCA","PCCB","PET117","PHGDH","PNPO","PSAT1","SLC30A10","SLC36A2","SLC6A18","SLC6A19","SLC6A20","SLC7A7","SUCLG1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CIRCULATING_ASPARTATE_FAMILY_AMINO_ACID_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M37688","pmid":"","exactSource":"HP:0010899","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010899","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_ASPARTATE_FAMILY_AMINO_ACID_CONCENTRATION","geneSymbols":["AASS","ABCD4","ADK","AHCY","ASNS","CBS","FAH","GNMT","GUCY2D","LMBRD1","MAT1A","MICU1","MMACHC","MMADHC","MTHFR","MTR","MTRR","NADK2","PNPO","PRDX1","SKIC3","SLC25A13","SLC7A7","TFAM"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CIRCULATING_METHIONINE_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M43382","pmid":"","exactSource":"HP:0010901","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010901","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_METHIONINE_CONCENTRATION","geneSymbols":["ABCD4","ADK","AHCY","CBS","FAH","GNMT","LMBRD1","MAT1A","MMACHC","MMADHC","MTHFR","MTR","MTRR","PRDX1","SKIC3","SLC25A13","TFAM"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CIRCULATING_GLUTAMINE_FAMILY_AMINO_ACID_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M37690","pmid":"","exactSource":"HP:0010902","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010902","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_GLUTAMINE_FAMILY_AMINO_ACID_CONCENTRATION","geneSymbols":["ALDH18A1","ALDH4A1","ARG1","ASL","ASS1","ATP5F1A","CA5A","COX10","COX16","COX5A","CPS1","GLS","GLUL","LIPT1","MDH1","NAGS","NDUFB10","NDUFC2","OTC","PDP1","PNPO","PRODH","SLC25A13","SLC36A2","SLC6A18","SLC6A19","SLC6A20","SLC7A7","TALDO1","TARS2","TNFRSF11B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CIRCULATING_GLUTAMINE_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M37691","pmid":"","exactSource":"HP:0010903","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010903","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_GLUTAMINE_CONCENTRATION","geneSymbols":["ASL","ASS1","CA5A","COX16","GLS","GLUL","LIPT1","NAGS","OTC","SLC25A13","SLC7A7","TALDO1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CIRCULATING_PROLINE_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M37692","pmid":"","exactSource":"HP:0010907","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010907","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_PROLINE_CONCENTRATION","geneSymbols":["ALDH18A1","ALDH4A1","ATP5F1A","CA5A","COX10","COX16","COX5A","LIPT1","NDUFB10","NDUFC2","PDP1","PRODH","SLC36A2","SLC6A18","SLC6A19","SLC6A20","SLC7A7","TARS2","TNFRSF11B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CIRCULATING_LYSINE_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M47161","pmid":"","exactSource":"HP:0010908","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010908","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_LYSINE_CONCENTRATION","geneSymbols":["AASS","MICU1","NADK2","SLC25A13","SLC7A7"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CIRCULATING_ARGININE_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M37693","pmid":"","exactSource":"HP:0010909","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010909","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_ARGININE_CONCENTRATION","geneSymbols":["ALDH18A1","ARG1","ASL","ASS1","ATP5F1A","CA5A","CPS1","PNPO","SLC25A13"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CIRCULATING_TYROSINE_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M37695","pmid":"","exactSource":"HP:0010917","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010917","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_TYROSINE_CONCENTRATION","geneSymbols":["BCS1L","FAH","HPD","PNPO","SLC25A13","TAT","TFAM"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CIRCULATING_HOMOCYSTEINE_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M46189","pmid":"","exactSource":"HP:0010919","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010919","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_HOMOCYSTEINE_CONCENTRATION","geneSymbols":["ABCD4","AHCY","CBS","CD320","HCFC1","LMBRD1","MCEE","MMACHC","MMADHC","MTHFD1","MTHFR","MTR","MTRR","NFE2L2","PRDX1","SLC19A1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ZONULAR_CATARACT":{"collection":"C5:HPO","systematicName":"M37696","pmid":"","exactSource":"HP:0010920","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010920","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ZONULAR_CATARACT","geneSymbols":["ACADS","BAP1","BEST1","BFSP1","CFAP410","CHMP4B","CLPB","COL18A1","CRYBA1","CRYBA4","CRYBB1","CRYBB2","CRYBB3","CRYGB","CRYGC","CRYGS","CYSLTR2","FTL","FYCO1","GALK1","GJA1","GJA3","GJA5","GJA8","GNA11","GNAQ","GNPAT","HSF4","IMPG2","KIAA1549","LIM2","MAF","MIP","MVK","NF2","NHS","NR2E3","OCRL","OPA3","PAK2","PANK4","PRG4","RECQL4","RTN4IP1","SEC23A","SF3B1","SLC2A1","VIM","WFS1","ZNF408"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_BLOOD_INORGANIC_CATION_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M37697","pmid":"","exactSource":"HP:0010927","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010927","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BLOOD_INORGANIC_CATION_CONCENTRATION","geneSymbols":["ACADVL","ADAMTS3","ADCY10","ALDOB","ALG12","ALPL","AP1S3","AP2S1","APC2","ARVCF","ATP1A1","BAZ1B","BCL7B","BSND","BTK","BTNL2","BUD23","CA2","CACNA1C","CACNA1S","CAMKMT","CASR","CAV1","CCBE1","CCDC134","CCND1","CDC73","CDKN1A","CDKN1B","CDKN1C","CDKN2B","CDKN2C","CHD7","CLCN7","CLCNKA","CLCNKB","CLDN10","CLDN16","CLDN19","CLIP2","CNNM2","COMT","CSF1R","CTNS","CYP24A1","CYP27B1","CYP2R1","CYP3A4","DBH","DGCR2","DGCR6","DGCR8","DLST","DMP1","DNAJC30","DNMT3A","EGF","EIF4H","ELN","ENPP1","EPAS1","ESS2","FAM111A","FARSB","FAT4","FGF23","FH","FKBP6","FOCAD","FOXP3","FXYD2","GABRA3","GALNT3","GATA3","GCM2","GEMIN4","GNA11","GNAS","GNAS-AS1","GNB2","GP1BB","GTF2I","GTF2IRD1","GTF2IRD2","HADHA","HADHB","HIRA","HLA-DQA1","HLA-DQB1","HLA-DRB1","IFT122","IL36RN","JMJD1C","KCNJ1","KCNJ10","KCNJ18","KIF1B","KL","LDHA","LIMK1","LPIN1","MAX","MDH2","MEN1","METTL27","MLXIPL","MT-CO1","MT-CO3","NCF1","NF1","NOTCH3","NSD1","OBSCN","ORAI1","OSTM1","PCBD1","PDGFB","PDGFRB","PHEX","PIGT","PIK3C2A","PLEKHM1","PLVAP","POLRMT","PPM1B","PREPL","PTH","PTH1R","RET","RFC2","RFX7","RMRP","RRAGD","RREB1","RYR1","SARS2","SDHA","SDHAF2","SDHB","SDHC","SDHD","SEC24C","SETD2","SLC12A1","SLC12A3","SLC20A2","SLC25A11","SLC30A10","SLC34A1","SLC34A2","SLC34A3","SLC39A14","SLC39A8","SLC3A1","SLC4A1","SLC5A1","SNX10","STX16","STX1A","TBCE","TBL2","TBX1","TCIRG1","TIAM1","TMEM127","TMEM270","TNFRSF11A","TNFSF11","TRIO","TRPM6","UBR1","UFD1","USP53","VDR","VHL","VPS37D"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_BLOOD_MONOVALENT_INORGANIC_CATION_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M37698","pmid":"","exactSource":"HP:0010930","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010930","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BLOOD_MONOVALENT_INORGANIC_CATION_CONCENTRATION","geneSymbols":["ABCB6","AIP","AKAP9","ALAD","ALDOA","ALG12","ALG8","ANK2","AP1S3","AQP2","ARNT2","ATIC","ATP1A1","ATP6V0A4","AVPR2","BMPR1A","BSND","CA12","CA5A","CACNA1C","CACNA1D","CACNA1S","CALM1","CALM2","CALM3","CASR","CAV3","CDH23","CDKN2A","CLCN2","CLCNKA","CLCNKB","CLDN10","COL3A1","CPOX","CTNNB1","CTNS","CUL3","CYP11A1","CYP11B1","CYP11B2","CYP17A1","DEF6","DSG1","DZIP1L","EHHADH","EIF2AK3","ELP1","FGFR1","FOCAD","FXYD2","GABRA3","GATM","GEMIN4","HMBS","HSD11B2","HSD3B2","IL36RN","INSR","INVS","IRF4","KCNE1","KCNE2","KCNE3","KCNH2","KCNJ1","KCNJ10","KCNJ18","KCNJ2","KCNJ5","KCNN4","KCNQ1","KLHL3","LPIN1","LYST","MAGED2","MC2R","MRAP","MT-CO1","MT-CO3","NDUFAF6","NDUFB8","NFKB2","NNT","NOS1AP","NR0B1","NR3C1","NR3C2","NUP214","OBSCN","OCRL","PAX2","PBX1","PIEZO1","PKD2","PKHD1","PLVAP","POLG2","POR","PPOX","PRF1","PRKAR1A","RRAGD","RYR1","SAMD9","SARS2","SCN10A","SCN4A","SCN4B","SCN5A","SCNN1A","SCNN1B","SCNN1G","SERPINA6","SETD2","SLC12A1","SLC12A3","SLC26A3","SLC2A1","SLC2A2","SLC30A9","SLC34A1","SLC4A1","SLC4A2","SLC4A4","SLC5A1","SMAD4","SNTA1","STAR","SYK","TBK1","TBX19","TBX5","TDP2","TERT","TICAM1","TLR3","TP53","TRAF3","TRDN","TSFM","TXNRD2","UNC45A","UNC93B1","USP8","WNK1","WNK4","ZNRF3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_BLOOD_SODIUM_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M37699","pmid":"","exactSource":"HP:0010931","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010931","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BLOOD_SODIUM_CONCENTRATION","geneSymbols":["ALAD","ALG12","ALG8","AP1S3","AQP2","ARNT2","ATIC","AVPR2","BSND","CA12","CA5A","CLCNKA","CLCNKB","CPOX","CTNS","CYP11A1","CYP11B2","DSG1","DZIP1L","EIF2AK3","ELP1","FGFR1","FOCAD","GEMIN4","HMBS","HSD3B2","IL36RN","IRF4","LYST","MAGED2","MC2R","MRAP","NDUFB8","NFKB2","NNT","NR0B1","NR3C2","NUP214","OCRL","PAX2","PBX1","PKHD1","PLVAP","POR","PPOX","PRF1","RRAGD","SAMD9","SARS2","SCN4A","SCNN1A","SCNN1B","SCNN1G","SETD2","SLC26A3","SLC5A1","STAR","SYK","TBK1","TBX19","TDP2","TICAM1","TLR3","TRAF3","TSFM","TXNRD2","UNC93B1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CIRCULATING_NUCLEOBASE_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M41401","pmid":"","exactSource":"HP:0010932","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010932","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_NUCLEOBASE_CONCENTRATION","geneSymbols":["ACAT1","ALDOB","ALMS1","ATP7B","CLDN16","CTNS","DPYS","EHHADH","FBP1","G6PC1","GATM","GPHN","HMGCL","HNF1B","HNF4A","HPRT1","LMAN1","MCFD2","MOCOS","MOCS1","MOCS2","MUC1","MYC","NDUFAF6","OTC","PFKM","PHKA2","PHKB","PNP","POLG","PPARG","PRPS1","PYGL","PYGM","REN","SARS2","SEC61A1","SH2B1","SLC22A12","SLC2A2","SLC2A9","SLC34A1","SLC37A4","TNFRSF11A","TNFRSF11B","TYMP","UMOD","XDH"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_UPPER_URINARY_TRACT":{"collection":"C5:HPO","systematicName":"M47162","pmid":"","exactSource":"HP:0010935","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010935","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_UPPER_URINARY_TRACT","geneSymbols":["AAGAB","ABCA12","ABCC6","ABCC8","ABCG5","ABCG8","ACE","ACP5","ACSL4","ACTB","ACTG1","ACTG2","ACTN4","ACVRL1","ADA","ADA2","ADAMTS13","ADAMTS3","ADAMTSL1","ADAT3","ADCY10","ADGRG2","ADNP","AFF3","AFF4","AGGF1","AGPAT2","AGT","AGTR1","AGXT","AHI1","AIP","AIRE","AKR1D1","AKT1","AKT3","ALDH18A1","ALDH4A1","ALDOA","ALDOB","ALG1","ALG5","ALG8","ALG9","ALKBH8","ALMS1","ALOX12B","ALOXE3","ALPL","ALX4","AMER1","AMMECR1","AMN","ANKFY1","ANKLE2","ANKRD17","ANKS6","ANLN","ANOS1","ANTXR1","AP1S3","AP2S1","APC","APC2","APOA1","APOB","APOE","APOL1","APPL1","APRT","AQP2","ARHGAP24","ARHGDIA","ARID1A","ARID1B","ARID2","ARL3","ARL6","ARL6IP6","ARMC5","ARNT2","ARPC4","ARSK","ARVCF","ARX","ASPM","ASPRV1","ASXL1","ASXL2","ATN1","ATP1A1","ATP5F1A","ATP5F1D","ATP5F1E","ATP5MK","ATP6V0A4","ATP6V1B1","ATP6V1B2","ATP6V1E1","ATP7A","ATP7B","ATPAF1","ATPAF2","ATRX","AURKA","AVIL","AVPR2","AXIN1","AXIN2","B2M","B3GALT6","B3GLCT","B4GAT1","B9D1","B9D2","BANK1","BAP1","BAX","BAZ1B","BBIP1","BBS1","BBS10","BBS12","BBS2","BBS4","BBS5","BBS7","BBS9","BCL7B","BCOR","BCS1L","BICC1","BICRA","BLK","BLM","BMP4","BMPER","BMPR1A","BNC2","BPTF","BRAF","BRCA1","BRCA2","BRD4","BRF1","BRIP1","BSCL2","BSND","BTNL2","BUB1","BUB1B","BUB3","BUD23","C1QA","C1QBP","C1S","C2CD3","C3","C4A","C4B","CA2","CACNA1D","CACNA1S","CAD","CAMK2A","CAMKMT","CAPN15","CASK","CASP10","CASR","CASZ1","CAV1","CC2D2A","CCBE1","CCDC141","CCDC22","CCDC28B","CCN2","CCND1","CCND2","CCNQ","CCR1","CCR6","CD109","CD151","CD2AP","CD46","CD81","CD96","CDC42","CDC42BPB","CDC45","CDC73","CDH11","CDK4","CDK5RAP2","CDK6","CDKL5","CDKN1A","CDKN1B","CDKN1C","CDKN2A","CDKN2B","CDKN2C","CDON","CEACAM3","CEACAM6","CEL","CENPE","CENPF","CENPJ","CEP120","CEP135","CEP152","CEP164","CEP19","CEP290","CEP41","CEP55","CEP57","CEP63","CEP83","CFAP418","CFB","CFH","CFHR1","CFHR3","CFHR5","CFI","CFTR","CHD4","CHD7","CHEK2","CHKA","CHN1","CHRM3","CHRNA3","CHST14","CHUK","CILK1","CISD2","CIT","CLCA4","CLCN3","CLCN5","CLCN7","CLCNKA","CLCNKB","CLDN10","CLDN16","CLDN19","CLDN2","CLEC7A","CLIP2","CLPB","CNNM2","COA8","COG1","COG6","COG7","COL14A1","COL18A1","COL3A1","COL4A1","COL4A3","COL4A4","COL4A5","COL4A6","COL7A1","COLEC10","COLEC11","COMT","COPA","COPB2","COQ2","COQ6","COQ7","COQ8B","CORIN","COX14","CPLANE1","CPLX1","CPOX","CPT1A","CPT2","CR2","CRB2","CREBBP","CRTAP","CSPP1","CTBP1","CTH","CTLA4","CTNNB1","CTNS","CTU2","CUBN","CWC27","CYB561","CYBC1","CYP24A1","CYP4F22","DAAM2","DACT1","DCC","DCDC2","DCHS1","DCLRE1C","DCTN4","DDB1","DDX59","DDX6","DEAF1","DGKE","DHCR24","DHCR7","DHDDS","DHODH","DHX16","DHX37","DICER1","DIS3L2","DISP1","DKC1","DLC1","DLK1","DLL1","DLL3","DLL4","DLST","DMP1","DMRT3","DMXL2","DNA2","DNAJB11","DNAJC21","DNAJC30","DNASE1","DNASE1L3","DNASE2","DNMT3A","DPF2","DPH1","DPH2","DPYSL5","DSE","DSTYK","DUSP6","DVL1","DVL3","DYNC2H1","DYNC2I1","DYNC2I2","DYNC2LI1","DYRK1A","DZIP1L","EBF3","EBP","EDNRA","EDNRB","EFEMP2","EHHADH","EHMT1","EIF2AK3","EIF4H","ELN","ELP1","EMP2","EN1","ENG","ENPP1","EP300","EPAS1","EPG5","ERAP1","ERBB3","ERCC4","ERCC6","ERCC8","ESCO2","ETFA","ETFB","ETFDH","ETS1","EVC","EVC2","EXT1","EXT2","EXTL3","EYA1","F10","F2","F5","F8","FAH","FAM149B1","FAM20A","FAM20C","FAN1","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FAS","FASLG","FAT4","FBLN5","FBN1","FBXL4","FBXW11","FCGR2A","FCGR2B","FCGR3B","FEZF1","FGA","FGF10","FGF13","FGF17","FGF20","FGF23","FGF8","FGFR1","FGFR2","FGFR3","FH","FIBP","FIG4","FIP1L1","FKBP6","FKRP","FKTN","FLCN","FLI1","FLII","FLNA","FLNB","FLRT3","FLT1","FN1","FOCAD","FOXC2","FOXE1","FOXF1","FOXH1","FOXI1","FOXP1","FOXP3","FOXRED1","FRAS1","FREM1","FREM2","FUT8","FUZ","FXYD2","G6PC1","G6PC3","GABRD","GALNT3","GANAB","GAPVD1","GAS1","GATA1","GATA3","GATA4","GATA6","GATM","GBA1","GBE1","GCDH","GCK","GCLC","GCM2","GDF2","GDF3","GDF6","GEMIN4","GFRA1","GLA","GLI1","GLI2","GLI3","GLIS2","GLIS3","GLMN","GNA11","GNAO1","GNAS","GNB1","GNB2","GNPTAB","GON7","GP1BA","GP1BB","GP9","GPC3","GPC4","GPKOW","GPR35","GRB10","GREB1L","GRHPR","GRIA3","GRIN1","GRIP1","GRM7","GSN","GSTM3","GTF2I","GTF2IRD1","GTF2IRD2","H19","H4C3","H4C5","H4C9","HAAO","HABP2","HBB","HDAC4","HDAC8","HEATR3","HELLPAR","HES7","HESX1","HFE","HGD","HIC1","HIRA","HLA-B","HLA-DPA1","HLA-DPB1","HLA-DRB1","HMBS","HMGA2","HMOX1","HNF1A","HNF1B","HNF4A","HNRNPH1","HNRNPK","HNRNPU","HOGA1","HOXA13","HOXD13","HPRT1","HPS1","HPSE2","HRAS","HS2ST1","HS6ST1","HSD11B2","HSD17B4","HSPA9","HSPG2","HYLS1","HYMAI","IARS1","IDH1","IFIH1","IFNG","IFNGR1","IFT122","IFT140","IFT172","IFT27","IFT43","IFT74","IFT80","IGF2","IGHG1","IKZF1","IL10","IL12A","IL12A-AS1","IL17F","IL17RA","IL17RC","IL17RD","IL23R","IL2RG","IL36RN","IL6","IL7R","INF2","INPP5E","INS","INSL3","INSR","INTS1","INTU","INVS","IPO8","IQCB1","IQSEC2","IRAK1","IRF2BP2","IRF5","ISL1","ITGA2","ITGA2B","ITGA3","ITGA6","ITGA8","ITGAM","ITGB3","ITGB4","ITPR3","JAG1","JAK1","JAM3","JAZF1","JMJD1C","KANK2","KANSL1","KARS1","KAT5","KAT6A","KAT6B","KCNA1","KCNAB2","KCNE5","KCNH1","KCNJ1","KCNJ10","KCNJ11","KCNJ2","KCNJ5","KCNN4","KCNQ1","KCNQ1OT1","KCTD1","KDM6A","KEAP1","KIAA0319L","KIAA0586","KIAA0753","KIF14","KIF1B","KIF7","KIFBP","KIRREL1","KITLG","KL","KLF11","KLLN","KLRC4","KMT2A","KMT2C","KMT2D","KNL1","KNSTRN","KRAS","KRT17","KYNU","LAGE3","LAMA3","LAMA5","LAMB2","LAMB3","LAMC2","LARGE1","LARS2","LCAT","LDHA","LDLR","LDLRAP1","LEMD3","LETM1","LFNG","LHX1","LIG1","LIG4","LIMK1","LIPN","LMAN1","LMBRD1","LMNA","LMNB1","LMNB2","LMOD1","LMX1B","LONP1","LPIN1","LPIN2","LRIG2","LRP2","LRP4","LRP5","LTBP1","LTBP4","LUZP1","LYZ","LZTFL1","MAD2L2","MAFB","MAGED2","MAGI2","MAP2K1","MAP2K2","MAP3K1","MAP3K7","MAPK1","MAPKAPK5","MAPKBP1","MAPRE2","MARS1","MASP1","MAX","MBTPS2","MCC","MCFD2","MCM5","MCM7","MCPH1","MCTP2","MDH2","MDM2","MECP2","MED11","MED12","MED25","MEFV","MEG3","MEN1","MEOX1","MESP2","MET","METTL27","METTL5","MFSD2A","MGME1","MIA3","MID1","MIF","MINPP1","MITF","MKKS","MKS1","MLH1","MLH3","MLXIPL","MMACHC","MME","MMP1","MMP23B","MMUT","MNX1","MOCOS","MOCS1","MOCS2","MPDU1","MPI","MRPL3","MRPS22","MRPS34","MSH2","MSH3","MSH6","MST1","MT-ATP6","MT-ATP8","MT-CO1","MT-CO2","MT-CO3","MT-CYB","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND5","MT-ND6","MT-TE","MT-TF","MT-TH","MT-TK","MT-TL1","MT-TN","MT-TQ","MT-TS1","MT-TS2","MT-TT","MT-TV","MT-TW","MTRR","MTX2","MUC1","MVK","MYCN","MYD88","MYH11","MYH9","MYL9","MYLK","MYMK","MYMX","MYO1E","MYO5B","MYOCD","MYOD1","MYRF","NAA10","NABP1","NADK2","NADSYN1","NARS2","NBN","NCAPD3","NCAPG2","NCF1","NDNF","NDUFA1","NDUFA11","NDUFA6","NDUFAF1","NDUFAF2","NDUFAF3","NDUFAF4","NDUFAF5","NDUFAF6","NDUFAF8","NDUFB10","NDUFB11","NDUFB3","NDUFB9","NDUFS1","NDUFS2","NDUFS3","NDUFS4","NDUFS6","NDUFS7","NDUFS8","NDUFV1","NDUFV2","NECTIN1","NEK1","NEK8","NELFA","NEU1","NEUROD1","NEUROD2","NEXMIF","NF1","NFIA","NFS1","NHERF1","NIPAL4","NIPBL","NKX2-1","NLRP3","NOD2","NODAL","NOS1AP","NOTCH2","NOTCH3","NPHP1","NPHP3","NPHP4","NPHS1","NPHS2","NPM1","NR0B1","NR5A1","NRAS","NRIP1","NSD1","NSD2","NSDHL","NSUN2","NTRK1","NUBPL","NUMA1","NUP107","NUP133","NUP160","NUP205","NUP37","NUP85","NUP93","NXN","OBSCN","OCLN","OCRL","OFD1","OGG1","OPLAH","OSGEP","OTUD5","OXGR1","P4HA2","PACS1","PAFAH1B1","PAH","PAK2","PALB2","PAX1","PAX2","PAX4","PAX6","PAX7","PBRM1","PBX1","PC","PCK1","PCK2","PCSK9","PDCD1","PDCD6IP","PDE6D","PDGFRB","PDGFRL","PDHA1","PDPN","PDSS2","PDX1","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PEX7","PFKM","PGAM2","PGAP2","PGAP3","PGK1","PGM1","PGM3","PHC1","PHEX","PHF21A","PHGDH","PHKA2","PHKB","PHKG2","PHYH","PI4KA","PIDD1","PIEZO2","PIGA","PIGG","PIGL","PIGN","PIGO","PIGP","PIGQ","PIGT","PIGV","PIGW","PIGY","PIK3C2A","PIK3CA","PIK3CD","PIK3R2","PKD1","PKD2","PKDCC","PKHD1","PLA2G2A","PLAGL1","PLCD1","PLCE1","PLD1","PLEC","PLG","PLVAP","PLXNA1","PML","PMM2","PNKP","PNPLA2","PNPLA6","POGZ","POLE","POLR3A","POLRMT","POMT1","POMT2","POR","PORCN","POT1","POU3F4","POU6F2","PPFIBP1","PPM1B","PPOX","PPP1R15B","PPP2R1A","PPP2R3C","PPP3CA","PQBP1","PRCC","PRDM16","PRDX1","PREPL","PRF1","PRIM1","PRKACA","PRKACB","PRKAG2","PRKAR1A","PRKCD","PRKCSH","PRKCZ","PRMT7","PRODH","PROK2","PROKR2","PRPS1","PRTN3","PSMC1","PSMD12","PTCH1","PTEN","PTH","PTH1R","PTPN11","PTPN12","PTPN22","PTPRJ","PTPRO","PUF60","PUS3","PXK","PYCR2","PYGL","PYGM","RAB18","RAB23","RAB3GAP1","RAB3GAP2","RAD21","RAD51","RAD51C","RAD54B","RAF1","RAG1","RAG2","RAI1","RALGAPA1","RARA","RARB","RASA1","RASGRP1","RBBP8","RBCK1","RBM10","RBM8A","RECQL4","REN","RERE","REST","RET","RFC2","RFWD3","RFX7","RIPK4","RIPPLY2","RMND1","RMRP","RNF139","RNU4ATAC","RNU7-1","ROBO1","ROBO2","ROR2","RORA","RPGRIP1","RPGRIP1L","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS7","RRAGD","RREB1","RRM2B","RSPO2","RTL1","RTTN","RYR1","SAA1","SALL1","SALL4","SARS1","SARS2","SASS6","SAT1","SBDS","SC5D","SCAPER","SCARB2","SCARF2","SCLT1","SCN1B","SCN2A","SCNN1A","SCNN1B","SCNN1G","SDCCAG8","SDHA","SDHAF1","SDHAF2","SDHB","SDHC","SDHD","SDR9C7","SEC23B","SEC24C","SEC61A1","SEC63","SEMA3A","SEMA3E","SEMA4A","SEMA4D","SERPINA1","SERPINF2","SERPINH1","SETBP1","SETD2","SF3B2","SF3B4","SGPL1","SH2B1","SHANK3","SHH","SHOC2","SHPK","SI","SIK1","SIX1","SIX2","SIX3","SIX5","SKI","SKIC2","SKIC3","SLC11A1","SLC12A1","SLC12A3","SLC17A5","SLC1A1","SLC1A2","SLC22A12","SLC25A11","SLC25A20","SLC25A22","SLC26A1","SLC26A4","SLC26A9","SLC29A3","SLC2A2","SLC2A9","SLC30A9","SLC32A1","SLC34A1","SLC34A2","SLC34A3","SLC35A2","SLC36A2","SLC37A4","SLC3A1","SLC41A1","SLC4A1","SLC4A2","SLC4A4","SLC5A1","SLC5A2","SLC6A14","SLC6A17","SLC7A7","SLC7A9","SLC9A3","SLX4","SMAD4","SMARCA4","SMARCAL1","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SMC1A","SMC3","SMO","SMOC1","SMS","SNAI2","SNAP29","SNRPB","SNRPN","SOCS1","SON","SOS1","SOS2","SOX10","SOX11","SOX17","SOX18","SOX4","SOX9","SPART","SPECC1L","SPEN","SPINK5","SPINT2","SPOP","SPP1","SPRED1","SPRY2","SPRY4","SPTBN1","SRC","SRCAP","SREBF1","SRP54","SRY","SSR4","STAG1","STAMBP","STAT1","STAT2","STAT3","STAT4","STAT5B","STIL","STIM1","STK11","STOX1","STRA6","STRADA","STS","STX11","STX1A","STX3","STXBP1","STXBP2","SUCLG1","SUFU","SULT2B1","SURF1","TACR3","TAF13","TALDO1","TAOK1","TAPT1","TASP1","TBC1D20","TBC1D24","TBC1D7","TBC1D8B","TBCK","TBL1XR1","TBL2","TBX1","TBX15","TBX18","TBX22","TBX3","TBXT","TCF4","TCN2","TCTN1","TCTN2","TCTN3","TDGF1","TELO2","TFAP2A","TFE3","TGFB1","TGIF1","TGM1","THBD","THOC6","TIMMDC1","TKT","TLR2","TLR4","TLR7","TMCO1","TMEM107","TMEM126B","TMEM127","TMEM138","TMEM165","TMEM216","TMEM218","TMEM231","TMEM237","TMEM260","TMEM270","TMEM67","TMEM70","TNFAIP3","TNFSF4","TNIP1","TNXB","TOGARAM1","TOM1","TOPORS","TOR1A","TP53","TP53RK","TP63","TPRKB","TRAF3IP1","TRAF3IP2","TRAPPC10","TRAPPC14","TREX1","TRIM28","TRIM32","TRIM37","TRIM8","TRIP11","TRIP13","TRMT5","TRNT1","TRPC6","TRPS1","TRPV6","TRRAP","TSC1","TSC2","TSR2","TTC21B","TTC26","TTC8","TTR","TULP3","TWIST2","TXNDC15","TXNL4A","TYR","UBA2","UBAC2","UBE2A","UBE2L3","UBE2T","UBE4B","UBR1","UFC1","UFD1","UMOD","UMPS","UNC13D","UNC45A","UQCC2","USF3","USP18","USP8","USP9X","VAC14","VAMP7","VANGL1","VDR","VHL","VIPAS39","VPS33A","VPS33B","VPS35L","VPS37D","VPS45","WAC","WARS1","WAS","WASHC5","WBP11","WDPCP","WDR11","WDR19","WDR35","WDR4","WDR62","WDR73","WFS1","WIPF1","WLS","WNT3","WNT4","WNT5A","WNT7B","WNT9B","WRN","WT1","WWOX","XDH","XPNPEP3","XRCC2","XRCC4","XYLT1","XYLT2","YAP1","YRDC","YWHAE","YY1","YY1AP1","ZAP70","ZBTB16","ZBTB18","ZEB2","ZFP57","ZFPM2","ZIC2","ZIC3","ZMIZ1","ZMPSTE24","ZMYM2","ZNF148","ZNF423","ZNF592","ZNF687","ZNF699","ZNFX1","ZPR1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_LOWER_URINARY_TRACT":{"collection":"C5:HPO","systematicName":"M37701","pmid":"","exactSource":"HP:0010936","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010936","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_LOWER_URINARY_TRACT","geneSymbols":["ABCD1","ABL1","ACER3","ACTA1","ACTG2","ADA2","ADAT3","ADH1C","ADNP","AFF4","AGXT","AIP","AKT1","ALDH18A1","ALG12","ALG9","ALMS1","ALS2","AMFR","ANKLE2","ANKRD11","AP5Z1","APC2","APRT","AQP2","AR","ARCN1","ARID1A","ARID1B","ARID2","ARL6IP6","ARNT2","ARSA","ARVCF","ARX","ASPM","ASXL1","ATL1","ATP13A2","ATP1A3","ATP6AP2","ATP7A","ATR","ATRX","ATXN1","ATXN10","ATXN2","ATXN3","ATXN8OS","AUH","AVPR2","B3GLCT","B4GALNT1","B9D1","B9D2","BAP1","BAZ1B","BCL7B","BCOR","BDNF","BICC1","BICRA","BIN1","BMP1","BNC2","BPTF","BRAF","BRCA1","BRCA2","BRD4","BRIP1","BUB1B","BUD23","C2CD3","CABP4","CACNA1G","CACNA1H","CACNA1S","CAMK2B","CAPN1","CARMIL2","CARS1","CASZ1","CC2D2A","CCBE1","CCDC22","CCDC8","CCL2","CCND1","CCNQ","CDC42","CDC42BPB","CDC45","CDC6","CDCA7","CDH11","CDK5RAP2","CDK6","CDKN1C","CDT1","CENPE","CENPJ","CEP135","CEP152","CEP290","CEP63","CEP85L","CFAP43","CHCHD10","CHD4","CHD7","CHMP2B","CHRM3","CHRNA2","CHRNA3","CHRNA4","CHRNB2","CHRNG","CHST14","CILK1","CISD2","CIT","CLCN6","CLCNKB","CLIP2","CLMP","CLN3","COG1","COG5","COG7","COL18A1","COL1A1","COL1A2","COL3A1","COL5A1","COL5A2","COL7A1","COLEC10","COLEC11","COMT","COPB1","COPB2","COQ2","COX7B","CPLX1","CPT1C","CREBBP","CRH","CSPP1","CTBP1","CTC1","CUL4B","CUL7","CUX1","CYB5A","CYP11A1","CYP17A1","CYP21A2","CYP7B1","DACT1","DARS2","DBH","DCDC2","DCHS1","DDHD2","DDX6","DEPDC5","DHCR7","DHX37","DKC1","DKK1","DLG3","DLL3","DMPK","DMRT3","DNAJC13","DNAJC19","DNAJC30","DNM2","DNMT1","DNMT3A","DPF2","DPH1","DPH2","DPH5","DPP9","DPYSL5","DSE","DSTYK","DVL1","DVL3","DYNC2H1","DYNC2I1","DYNC2I2","DYNC2LI1","DYRK1A","DYSF","EBF3","EFEMP2","EFNB1","EHMT1","EIF2AK1","EIF2AK2","EIF4G1","EIF4H","ELN","ELOVL1","EN1","EP300","EPG5","EPHB4","ERCC4","ERCC6","ERCC8","ERLIN2","ERMARD","ESCO2","EVC","EVC2","EXT1","EXT2","EYA1","FA2H","FAM20A","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FAR1","FARS2","FAT4","FBLN5","FBXL4","FBXO7","FDFT1","FERMT1","FGF10","FGFR1","FGFR2","FGFR3","FGFRL1","FIG4","FITM2","FKBP14","FKBP6","FLNA","FLT4","FLVCR1","FMR1","FOCAD","FOXC1","FOXF1","FOXP1","FOXP2","FRAS1","FREM2","FRMD5","FUS","FUZ","FXN","FZD2","G6PC3","GAA","GABRA1","GABRA3","GABRB3","GABRD","GABRG2","GALC","GALNT2","GATA1","GATA3","GATA4","GATAD2B","GBA1","GBA2","GBE1","GFAP","GGT1","GIGYF2","GJA1","GJC2","GLI1","GLI3","GLUD2","GMNN","GNA11","GNB1","GNB2","GP1BB","GPC3","GPC4","GPR101","GRB10","GREB1L","GRIP1","GTF2I","GTF2IRD1","GTF2IRD2","H4C11","H4C9","HAAO","HACE1","HBA1","HBA2","HCCS","HDAC8","HEATR3","HES7","HEXB","HIRA","HLA-B","HLA-DQB1","HLA-DRB1","HMBS","HMGA2","HNF1B","HNRNPA1","HNRNPA2B1","HNRNPH1","HNRNPK","HNRNPU","HOGA1","HOXA13","HOXD13","HPDL","HPRT1","HPSE2","HS6ST2","HSD17B10","HSD17B3","HSD3B2","HSPA9","HSPD1","HSPG2","HTRA1","HUWE1","HYLS1","IFT57","IFT80","IGF2","IGHMBP2","IKZF1","ISL1","ITGA6","ITGB4","JAG1","JMJD1C","JRK","KANSL1","KAT5","KAT6B","KCNAB2","KCNC3","KCND3","KCNJ10","KCNJ18","KCNQ1","KCNQ1OT1","KCNT1","KDM1A","KDM3B","KDM5B","KDM6A","KIAA0586","KIAA0753","KIF14","KIF1A","KIF5A","KIF7","KIFBP","KLF1","KLHL40","KLHL41","KMT2B","KMT2C","KMT2D","KNL1","KPNA3","KRAS","KY","LAMA3","LAMB3","LAMC2","LETM1","LFNG","LIG3","LIG4","LIMK1","LMNA","LMNB1","LMOD1","LMOD3","LRIG2","LRPPRC","LRRK2","LSS","LTBP1","LTBP4","LUZP1","MAB21L2","MACF1","MAD2L2","MAMLD1","MAP2K1","MAP3K1","MAP3K7","MAPKAPK5","MAPKBP1","MAPRE2","MAPT","MARS2","MBTPS2","MCM7","MCPH1","MCTP2","MECP2","MED12","MED12L","MED25","MED27","MESP2","METTL27","METTL5","MFSD2A","MID1","MKKS","MKS1","MLXIPL","MMP1","MMP23B","MNX1","MORC2","MPZ","MT-TT","MTFMT","MTM1","MTMR14","MTOR","MYCN","MYF6","MYH11","MYL9","MYLK","MYMK","MYMX","MYO1H","MYOCD","MYRF","NAA10","NAB2","NBN","NCAPD3","NCAPG2","NCF1","NDUFA6","NDUFA8","NDUFB11","NDUFB7","NDUFB8","NDUFS4","NEB","NEFL","NELFA","NEXMIF","NF2","NFIA","NGF","NHP2","NIPA1","NIPBL","NKX2-1","NOP10","NOTCH2","NOTCH2NLC","NOTCH3","NPHP3","NPM1","NR0B1","NR2F2","NR4A2","NR5A1","NRIP1","NSD1","NSD2","NSUN2","NUP37","OBSL1","OGT","ORC1","ORC4","ORC6","OTUD5","PAH","PAICS","PAK2","PALB2","PANK2","PARN","PAX2","PAX6","PBX1","PCNT","PDCD1","PDE4D","PDGFB","PDGFRB","PDPN","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PHC1","PI4KA","PIEZO2","PIGA","PIGG","PIGN","PIGO","PIGQ","PIK3CA","PIK3R5","PINK1","PITX2","PKP1","PLA2G6","PLAG1","PLD1","PLEC","PLOD1","PLP1","PLXNA1","PMP22","PNPLA6","PNPT1","POLA1","POLE","POLG","POLG2","POLR3A","POLRMT","POR","POT1","PPOX","PPP1R12A","PPP3CA","PQBP1","PRDM16","PRDM8","PRKACA","PRKACB","PRKAR1B","PRKCZ","PRMT7","PRNP","PRPS1","PSAP","PSMD12","PSPH","PTDSS1","PTPN11","PTPRF","PUF60","PYCR2","RAC1","RAC2","RAD21","RAD51","RAD51C","RAF1","RALGAPA1","RARB","RASA1","RBBP8","RBCK1","RBM8A","RECQL4","REEP1","REEP2","RERE","RETREG1","RFC2","RFWD3","RIN2","RIPPLY2","RLIM","RNF125","RNF168","RNF170","RNU12","ROBO1","ROBO2","RPGRIP1","RPGRIP1L","RPL10","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS7","RREB1","RRM2B","RSPO1","RSRC1","RTEL1","RTN2","RTTN","RYR1","SACS","SALL1","SALL4","SAMD9","SARS1","SASS6","SBF1","SCN9A","SCUBE3","SDHA","SDHAF1","SDHB","SDHD","SEC24C","SEMA3E","SETBP1","SETD2","SETD5","SETX","SF3B2","SH2B1","SHANK3","SIAH1","SIGMAR1","SIN3A","SIX1","SIX5","SIX6","SKI","SKIC3","SLC12A3","SLC1A4","SLC20A2","SLC25A10","SLC25A13","SLC25A4","SLC2A1","SLC31A1","SLC35A2","SLC44A1","SLC5A2","SLC9A6","SLX4","SMAD3","SMAD4","SMARCA2","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SMC1A","SMC3","SMCHD1","SMG8","SMO","SMS","SNCA","SNCAIP","SOX11","SOX17","SOX2","SOX4","SOX9","SP110","SPART","SPAST","SPEN","SPG11","SPG7","SPOP","SPRED1","SPTBN1","SPTLC1","SQSTM1","SRCAP","SRD5A2","SRY","SSR4","STAMBP","STAR","STAT1","STAT6","STIL","STK11","STRA6","STUB1","STX1A","SUCLG1","SUFU","SYNE1","SYNGAP1","TAF13","TAPT1","TBCD","TBCK","TBL2","TBP","TBX1","TBX22","TBXT","TCF12","TCTN1","TCTN2","TCTN3","TERC","TERT","TFAP2A","TGFB1","THOC6","TIMM50","TINF2","TMEM107","TMEM216","TMEM231","TMEM237","TMEM270","TMEM63A","TMEM67","TMEM70","TMEM94","TNXB","TOM1","TONSL","TP63","TPP1","TRAF7","TRAPPC10","TRAPPC12","TRAPPC14","TRIM8","TRIO","TRPS1","TRPV4","TRRAP","TSR2","TTC8","TTR","TUBB","TWNK","TXNDC15","TYMS","TYROBP","UBA1","UBAP1","UBE2A","UBE2T","UBE4B","UBR1","UFC1","UFD1","UNC45A","UPB1","USB1","USP9X","VAC14","VAMP7","VANGL1","VANGL2","VCP","VPS11","VPS35","VPS35L","VPS37D","WARS1","WASHC5","WDR35","WDR62","WFS1","WNT3","WNT4","WNT5A","WNT7A","WNT7B","WRAP53","WT1","WWOX","XRCC2","ZC4H2","ZEB2","ZFPM2","ZFYVE26","ZIC3","ZMIZ1","ZMPSTE24","ZMYM2","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_NASAL_SKELETON_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M37702","pmid":"","exactSource":"HP:0010937","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010937","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_NASAL_SKELETON_MORPHOLOGY","geneSymbols":["ALX4","BRAF","CTNNB1","PDGFRB","PPP1R12A","PTCH1","SIX3","SLC25A24","TGIF1","TONSL","UBA1","USH1G"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_EXTERNAL_NOSE_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M37703","pmid":"","exactSource":"HP:0010938","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010938","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_EXTERNAL_NOSE_MORPHOLOGY","geneSymbols":["AASS","ABCA12","ABCA4","ABCA5","ABCC8","ABCC9","ACSL4","ACTB","ACTG1","ACTG2","ACTL6B","ADAMTS18","ADAMTS3","ADAMTSL2","ADAR","ADAT3","ADGRG6","ADNP","ADSL","AFF3","AFF4","AGA","AGBL5","AGL","AGO1","AHI1","AHR","AIFM1","AIMP2","AKT1","ALDH18A1","ALDH1A2","ALDH6A1","ALG13","ALG3","ALG9","ALX1","ALX3","ALX4","AMMECR1","ANKRD11","ANKRD17","ANTXR1","AP2M1","AP4B1","AP4E1","AP4M1","AP4S1","APC","ARHGEF18","ARID1A","ARID1B","ARID2","ARL13B","ARL2BP","ARL3","ARL6","ARMC9","ARSL","ARVCF","ARX","ASH1L","ASNS","ASPH","ASXL1","ASXL2","ASXL3","ATAD3A","ATIC","ATN1","ATP6V0A2","ATP6V1A","ATP6V1B2","ATP6V1E1","ATP7A","ATR","ATRIP","ATRX","AUTS2","B3GALT6","B3GLCT","B9D1","B9D2","BANF1","BAP1","BBS1","BBS2","BCL11A","BCOR","BCR","BEST1","BICRA","BLTP1","BMP2","BMPER","BPTF","BRAF","BRCA1","BRCC3","BRD4","BRF1","BUB1","BUB1B","BUB3","C12orf57","C2CD3","CA4","CACNA1B","CAMTA1","CANT1","CAPN15","CASK","CASZ1","CAV1","CBL","CBY1","CC2D2A","CCDC22","CCDC47","CCDC8","CCNK","CCNQ","CD96","CDC42","CDC42BPB","CDH11","CDHR1","CDK10","CDK13","CDK19","CDKL5","CDON","CENPE","CENPF","CENPJ","CENPT","CEP104","CEP120","CEP152","CEP290","CEP41","CEP55","CEP57","CERKL","CERT1","CFAP418","CHD2","CHD5","CHMP1A","CHN1","CHRNA1","CHRNA7","CHRND","CHRNG","CHST14","CILK1","CIT","CKAP2L","CLCF1","CLCN3","CLIC2","CLP1","CLPB","CLRN1","CNGA1","CNGB1","CNOT1","CNOT2","CNOT3","COG1","COG4","COG6","COL11A1","COL11A2","COL18A1","COL1A1","COL1A2","COL27A1","COL2A1","COL3A1","COLEC11","COMT","CPLANE1","CPLX1","CPSF3","CPT2","CRB1","CREBBP","CRIPT","CRKL","CRLF1","CRX","CSF1R","CSGALNACT1","CSNK2A1","CSPP1","CTBP1","CTCF","CTNNB1","CTSK","CUL4B","CUL7","CUX1","CWC27","DDB1","DDB2","DDR2","DDX3X","DEAF1","DGCR2","DGCR6","DGCR8","DHCR24","DHCR7","DHDDS","DHX37","DHX38","DICER1","DIS3L2","DISP1","DLK1","DLL1","DLL3","DLX4","DMXL2","DNA2","DNMT3A","DNMT3B","DOCK3","DOCK6","DOCK7","DONSON","DPF2","DPYD","DVL1","DVL3","DYNC1I2","DYRK1A","DZIP1L","EBF3","EBP","ECE1","ECEL1","EDA","EDA2R","EDAR","EDARADD","EDEM3","EDN3","EDNRB","EFEMP2","EFNB1","EFTUD2","EHMT1","EIF2S3","EIF5A","ELN","EP300","EPG5","ERCC2","ERCC3","ERCC4","ERCC5","ERF","ESCO2","ESS2","EXOC2","EXOSC1","EXOSC2","EXT1","EXT2","EXTL3","EYA1","EYS","FAM149B1","FAM161A","FAM20C","FANCL","FBN1","FBXL3","FBXL4","FBXO28","FBXO31","FGD1","FGF20","FGF3","FGF8","FGFR1","FGFR2","FGFR3","FGFRL1","FH","FIG4","FLCN","FLI1","FLII","FLNA","FLNB","FMR1","FOCAD","FOXA2","FOXC1","FOXG1","FOXH1","FOXP1","FOXP2","FRA10AC1","FRAS1","FREM1","FREM2","FRMD4A","FRMPD4","FSCN2","FTO","FZD2","GABRD","GAD1","GAS1","GATAD2B","GBA1","GDF11","GFRA1","GH1","GHR","GJA1","GJA5","GJA8","GLB1","GLI2","GLI3","GLUL","GMNN","GNAI1","GNAO1","GNPAT","GNPTAB","GNS","GP1BB","GPAA1","GPC3","GPC4","GPC6","GREB1L","GRIN1","GRIP1","GRM7","GUCA1B","H3-3A","H3-3B","H4C3","H4C5","HDAC4","HDAC6","HDAC8","HECW2","HES7","HESX1","HGSNAT","HIC1","HIRA","HIVEP2","HK1","HNRNPH1","HNRNPH2","HNRNPK","HNRNPR","HOXB1","HPDL","HRAS","HS2ST1","HSPA9","HSPG2","HUWE1","HYLS1","IARS2","IDH3A","IDH3B","IDUA","IER3IP1","IFIH1","IFT122","IFT140","IFT172","IFT43","IFT52","IFT74","IFT88","IGF1","IGF1R","IL11RA","IL2RA","IL6ST","IMPDH1","IMPG1","IMPG2","INPP5E","INPPL1","INSR","INTS1","IQSEC2","IRX5","ITCH","ITGA8","JAG1","JARID2","JMJD1C","KANSL1","KAT5","KAT6A","KAT6B","KATNB1","KATNIP","KCNA1","KCNAB2","KCNE5","KCNH1","KCNJ11","KCNJ2","KCNJ5","KCNJ6","KCNJ8","KCNK9","KCNMA1","KCNN3","KCTD1","KDF1","KDM1A","KDM3B","KDM4B","KDM5B","KDM6A","KIAA0586","KIAA0753","KIAA1549","KIF11","KIF14","KIF15","KIF1A","KIF7","KIFBP","KIZ","KLHL15","KLHL7","KMT2A","KMT2B","KMT2D","KMT5B","KNL1","KNSTRN","KPTN","KRAS","LAS1L","LBR","LEMD2","LETM1","LFNG","LHX4","LIFR","LIG4","LMBR1","LMBRD2","LMNA","LMX1B","LONP1","LRAT","LRP2","LRP4","LRPPRC","LSM11","LTBP1","LTBP3","LUZP1","MAB21L1","MADD","MAFB","MAK","MAN1B1","MAN2B1","MAN2C1","MAP2K1","MAP2K2","MAP3K7","MAPK1","MAPK8IP3","MAPKAPK5","MARS2","MBD5","MBTPS2","MCTP2","MECP2","MED12","MED12L","MED13L","MED25","MED27","MEF2C","MEG3","MEGF8","MEIS2","MERTK","MESD","MESP2","METTL23","METTL5","MGAT2","MGP","MICU1","MID1","MIPEP","MITF","MKS1","MLXIPL","MMP2","MMP23B","MN1","MPDZ","MPLKIP","MRAS","MSL3","MTX2","MUSK","MVK","MYCN","MYH3","MYMK","MYMX","MYO18B","NAA10","NACC1","NALCN","NANS","NARS2","NBN","NEDD4L","NEK2","NEK9","NEUROD2","NEXMIF","NF1","NFIA","NFIB","NFIX","NFKBIA","NGLY1","NHEJ1","NIPBL","NODAL","NOG","NOTCH2","NOVA2","NPHP1","NR2E3","NR2F1","NRAS","NRL","NSD1","NSD2","NSRP1","NSUN2","NUP188","NUP85","NXN","OBSL1","OCLN","ODC1","OFD1","ORC4","OTX2","PACS1","PAFAH1B1","PAH","PAICS","PAK3","PAM16","PARS2","PAX1","PAX3","PAX7","PBX1","PCARE","PCDHGC4","PCGF2","PCNT","PDE4D","PDE6A","PDE6B","PDE6D","PDE6G","PDGFRB","PDHA1","PDPN","PEPD","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PGAP2","PGAP3","PGM2L1","PHF21A","PHF8","PHGDH","PHIP","PIBF1","PIEZO2","PIGA","PIGF","PIGL","PIGN","PIGO","PIGP","PIGQ","PIGT","PIGV","PIGW","PIGY","PIK3C2A","PIK3CD","PIK3R1","PKHD1","PLCB3","PLCH1","PLEC","PLK4","PLOD3","PMM2","PNKP","POC1A","POGZ","POLD1","POLG2","POLR3A","POLRMT","POMGNT1","POR","PORCN","POU1F1","POU4F1","PPM1D","PPP1CB","PPP1R15B","PPP1R21","PPP2CA","PPP2R1A","PPP2R3C","PPP3CA","PQBP1","PRCD","PRDM16","PRIM1","PRKACA","PRKACB","PRKAR1A","PRKAR1B","PRKCZ","PRKD1","PRMT7","PROM1","PROP1","PRPF3","PRPF31","PRPF4","PRPF6","PRPF8","PRPH2","PRPS1","PSAT1","PTCH1","PTEN","PTF1A","PTH1R","PTPN11","PTPRF","PUF60","PURA","PUS1","PUS7","PYCR1","PYCR2","QRICH1","RAB18","RAB3GAP1","RAB3GAP2","RAC1","RAC3","RAD21","RAI1","RALA","RALGAPA1","RARB","RBBP8","RBM10","RBM8A","RBMX","RBP3","RDH11","RDH12","RECQL","RECQL4","REEP6","RERE","RET","RFX7","RGR","RHO","RHOA","RHOBTB2","RIC1","RIPK4","RIPPLY2","RLBP1","RLIM","RMRP","RNASEH2A","RNASEH2B","RNASEH2C","RNF125","RNF135","RNF2","RNU4ATAC","RNU7-1","ROM1","ROR2","RP1","RP1L1","RP2","RP9","RPE65","RPGR","RPGRIP1","RPGRIP1L","RPL10","RPS19","RPS6KA3","RREB1","RTL1","RUNX2","RUSC2","RYR1","SAG","SALL4","SAMHD1","SATB2","SC5D","SCAPER","SCARF2","SCN1A","SCN1B","SCN2A","SCNM1","SCYL2","SEC23A","SEC24C","SEMA4A","SET","SETBP1","SETD1A","SETD2","SETD5","SH3PXD2B","SHANK3","SHH","SHOC2","SIK1","SIM1","SIN3A","SIX2","SIX3","SKI","SKIC3","SLC17A5","SLC25A22","SLC25A24","SLC25A46","SLC26A2","SLC29A3","SLC2A1","SLC2A10","SLC32A1","SLC35C1","SLC37A4","SLC6A1","SLC6A9","SLC7A14","SLX4","SMARCA2","SMARCA4","SMARCAL1","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SMC1A","SMC3","SMC5","SMG8","SMG9","SMOC1","SMPD4","SMS","SNAP29","SNIP1","SNRNP200","SNRPN","SNX14","SOST","SOX10","SOX11","SOX3","SOX4","SOX5","SOX9","SPATA5","SPATA7","SPECC1L","SPEN","SPOP","SPRTN","SPTBN1","SRCAP","SRD5A3","STAG2","STAT5B","STIL","STXBP1","SUFU","SUMF1","SUPT16H","SUZ12","SYNGAP1","SYT1","TAF1","TAF6","TAPT1","TBC1D20","TBC1D23","TBC1D24","TBCD","TBCE","TBCK","TBL1XR1","TBX1","TBX2","TBX4","TBX6","TCF20","TCF4","TCTN1","TCTN2","TCTN3","TDGF1","TFAP2A","TFAP2B","TGDS","TGFB3","TGIF1","THOC6","THUMPD1","TLK2","TMCO1","TMEM107","TMEM138","TMEM216","TMEM218","TMEM231","TMEM237","TMEM53","TMEM67","TMEM70","TMEM94","TMLHE","TOE1","TOGARAM1","TONSL","TOPORS","TOR1A","TP63","TPR","TRAF6","TRAIP","TREX1","TRIM8","TRIO","TRIP11","TRIP12","TRIP13","TRMT10A","TRPM3","TRPS1","TRPV6","TRRAP","TSPEAR","TTC26","TTC8","TUB","TUBGCP2","TUBGCP4","TUBGCP6","TULP1","TWIST1","TWIST2","TXNDC15","TXNL4A","UBE2A","UBE3B","UBE4B","UBR1","UFC1","UFD1","UNC80","USB1","USH2A","USP9X","VAC14","VPS13B","VPS35L","VPS51","WAC","WASHC4","WDR19","WDR26","WDR35","WDR4","WDR62","WDR73","WLS","WNT5A","WNT9B","WRN","WWOX","XPA","XPC","XRCC4","XYLT1","YWHAE","YY1","ZBTB20","ZBTB24","ZC4H2","ZEB2","ZIC2","ZMIZ1","ZMPSTE24","ZMYM2","ZNF148","ZNF292","ZNF408","ZNF423","ZNF462","ZNF513","ZNF699","ZNHIT3","ZPR1","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_NASAL_BONE_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M37704","pmid":"","exactSource":"HP:0010939","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010939","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_NASAL_BONE_MORPHOLOGY","geneSymbols":["ALX4","BRAF","CTNNB1","PDGFRB","PPP1R12A","SIX3","SLC25A24","TONSL","USH1G"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APLASIA_HYPOPLASIA_OF_THE_NASAL_BONE":{"collection":"C5:HPO","systematicName":"M41402","pmid":"","exactSource":"HP:0010940","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010940","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_NASAL_BONE","geneSymbols":["ALX4","PDGFRB","PPP1R12A","SIX3","SLC25A24","TONSL","USH1G"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APLASIA_OF_THE_NASAL_BONE":{"collection":"C5:HPO","systematicName":"M47163","pmid":"","exactSource":"HP:0010941","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010941","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_OF_THE_NASAL_BONE","geneSymbols":["ALX4","PDGFRB","PPP1R12A","SIX3","TONSL"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ECHOGENIC_FETAL_BOWEL":{"collection":"C5:HPO","systematicName":"M47164","pmid":"","exactSource":"HP:0010943","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010943","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ECHOGENIC_FETAL_BOWEL","geneSymbols":["GNB2","KMT2D","LBR","PIGY","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_RENAL_PELVIS_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M37705","pmid":"","exactSource":"HP:0010944","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010944","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RENAL_PELVIS_MORPHOLOGY","geneSymbols":["ACTB","ACTG1","ACTG2","ALG9","APC","APC2","ARID1B","ARL3","ARNT2","ARPC4","ATN1","ATP6V1B2","ATP7A","ATRX","B3GALT6","B3GLCT","B4GAT1","B9D1","BAP1","BBS12","BCOR","BNC2","BRAF","BRF1","CA2","CAMK2A","CASZ1","CCBE1","CCDC22","CCNQ","CD81","CDC42","CDC42BPB","CDKN1C","CENPF","CHD7","CHRM3","CHRNA3","CHST14","CLCN3","COG1","COG7","COL18A1","CPT2","CREBBP","CRTAP","CTLA4","CTNNB1","DDB1","DDX6","DHCR7","DLK1","DPYSL5","DSE","DVL1","DYNC2H1","DYNC2I1","DYNC2I2","DYRK1A","EBP","EN1","EP300","ERBB3","ERCC6","ERCC8","EYA1","FAM20C","FANCB","FGF10","FGF13","FGFR1","FGFR2","FGFR3","FH","FLI1","FLNA","FOCAD","FOXF1","G6PC3","GABRD","GATA3","GEMIN4","GLI3","GNB1","GPC3","GPC4","GREB1L","GRIA3","HDAC4","HLA-DPA1","HLA-DPB1","HNRNPK","HOXD13","HPSE2","HSPG2","HYLS1","IARS1","IFT27","IFT80","IPO8","ITGA6","ITGB4","KANSL1","KAT6A","KAT6B","KCNAB2","KCTD1","KDM6A","KIAA0753","KMT2D","KRAS","LAMA3","LAMB3","LAMC2","LIG4","LMNB1","LMOD1","LRIG2","LTBP4","LUZP1","MAP2K1","MAP2K2","MAP3K7","MASP1","MBTPS2","MED11","MED12","MED25","MEG3","MIA3","MID1","MKKS","MMP23B","MYCN","MYL9","MYMK","MYMX","MYOD1","NAA10","NBN","NCAPG2","NDUFAF3","NF1","NFIA","NRIP1","NSD1","NSDHL","NSUN2","NXN","OFD1","OTUD5","PAX7","PDPN","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PGAP2","PGAP3","PGM1","PI4KA","PIEZO2","PIGA","PIGL","PIGN","PIGO","PIGV","PIGW","PIGY","PLD1","PLEC","POLE","POLR3A","POR","PORCN","PPP3CA","PRDM16","PRKCZ","PRTN3","PTPN22","RAB18","RAB23","RAB3GAP1","RAB3GAP2","RAD51C","RBM10","RBM8A","RECQL4","RERE","RFX7","RNU4ATAC","ROR2","RORA","RTL1","SALL4","SCARF2","SEMA3E","SETBP1","SETD2","SHANK3","SHH","SIX1","SIX5","SKI","SLC6A17","SOS1","SOX17","SOX9","SPART","SPEN","SPINK5","SRCAP","STRA6","TAPT1","TASP1","TBC1D20","TBC1D24","TBCK","TBX1","TBX15","TBX18","TFAP2A","TOGARAM1","TP63","TRRAP","TTC26","UBE4B","UBR1","USP9X","VPS35L","WASHC5","WDR35","WFS1","WLS","WNT5A","XDH","YY1","ZBTB18","ZEB2","ZIC3","ZMYM2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FETAL_PYELECTASIS":{"collection":"C5:HPO","systematicName":"M47165","pmid":"","exactSource":"HP:0010945","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010945","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FETAL_PYELECTASIS","geneSymbols":["BNC2","CDC42BPB","CLCN3","FGF13","FH","KANSL1","MYL9","PI4KA","PIGA","TBCK","ZBTB18"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_FETAL_CARDIOVASCULAR_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M37706","pmid":"","exactSource":"HP:0010948","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010948","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FETAL_CARDIOVASCULAR_MORPHOLOGY","geneSymbols":["CACNA1C","CCDC22","CRB2","DDX6","DPF2","DPYSL5","FANCB","FANCF","FAT4","FOXF1","GATA6","GNB2","HNRNPK","HOXD13","HSPG2","LARS2","MCTP2","MDFIC","MKS1","MYH7","NRAS","PACS1","PAK2","PGAP2","PGAP3","PIGL","PIGO","PIGV","PIGW","PIGY","POR","QRICH1","RAC1","RHD","RYR3","SCARF2","SLC30A9","SPECC1L","STAG1","TAPT1","THSD1","TLK2","TRAF7","TWIST2","VPS35L","WASHC5","WNT3","WT1","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_FOURTH_VENTRICLE_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M47166","pmid":"","exactSource":"HP:0010950","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010950","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FOURTH_VENTRICLE_MORPHOLOGY","geneSymbols":["AFF3","ALG3","AP1S2","ARID1A","ARID1B","ARID2","ARMC9","ASNS","ASXL1","ATP6V0A2","ATP6V1A","ATP6V1B2","ATP6V1E1","ATXN1","ATXN2","ATXN3","B3GALNT2","B4GALT1","B4GAT1","B9D1","B9D2","BCOR","BLTP1","BUB1","BUB1B","BUB3","C2CD3","CASK","CC2D2A","CCDC22","CDC42","CDKN1C","CEP120","CEP290","CEP57","CHD7","COL4A1","COX20","CPT2","CRPPA","CSF1R","CSPP1","DAG1","DDX3X","DENND5A","DHCR7","DOK7","DPF2","DPH1","DPH2","DPYSL5","DYNC2H1","DYNC2I1","DYNC2I2","EBP","ESCO2","EVC","EVC2","EXOC2","FAR1","FGFR1","FKRP","FKTN","FLVCR2","FTO","GJB2","GJB6","GLI3","GMPPB","GPC3","GPC4","GRM1","GTPBP2","HRAS","HYLS1","IFT80","IGF2","KCNQ1","KCNQ1OT1","KIAA0586","KIF21A","KIF5A","KIF7","KRAS","LAMA1","LARGE1","MAB21L1","MAPKAPK5","MEF2C","MID1","MKS1","MRE11","MTM1","MUSK","MYOD1","NIPA1","NIPA2","NPHP3","NRAS","NUP88","OFD1","PGAP2","PHGDH","PIEZO2","PIGN","PLCH1","PLG","PMM2","PMPCA","POLR3A","POMGNT1","POMGNT2","POMK","POMT1","POMT2","PPP1CB","RAC1","RAPSN","RNF113A","RNU12","RPGRIP1","RPGRIP1L","RXYLT1","SEMA3E","SLC18A3","SLC35A2","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SMG9","SOX11","SOX4","TBC1D24","TCTN1","TCTN2","TCTN3","TMEM107","TMEM138","TMEM216","TMEM231","TMEM237","TMEM67","TRIP13","TUBA1A","TUBB","TUBG1","TXNDC15","USP9X","VPS35L","VPS51","WARS2","WASHC5","WDR35","WDR73","WDR81","WLS","ZIC1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_THIRD_VENTRICLE_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M47167","pmid":"","exactSource":"HP:0010951","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010951","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_THIRD_VENTRICLE_MORPHOLOGY","geneSymbols":["ASNS","ATP6AP2","C2CD3","CSPP1","DNMT1","EIF2B5","KCNN2","KIAA0586","KIDINS220","LARGE1","MED25","ODC1","TAOK1","TTC5","USP7"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NONCOMMUNICATING_HYDROCEPHALUS":{"collection":"C5:HPO","systematicName":"M43384","pmid":"","exactSource":"HP:0010953","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010953","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NONCOMMUNICATING_HYDROCEPHALUS","geneSymbols":["BICRA","FOXJ1","IFNG","KDM4B","SMARCC1","TSC1","TSC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DILATATION_OF_THE_BLADDER":{"collection":"C5:HPO","systematicName":"M37707","pmid":"","exactSource":"HP:0010955","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010955","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DILATATION_OF_THE_BLADDER","geneSymbols":["ACTG2","AQP2","AVPR2","FOXF1","LMOD1","LRIG2","MYH11","MYL9","MYLK","MYOCD","NKX2-1","TP63"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CONGENITAL_POSTERIOR_URETHRAL_VALVE":{"collection":"C5:HPO","systematicName":"M41403","pmid":"","exactSource":"HP:0010957","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010957","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONGENITAL_POSTERIOR_URETHRAL_VALVE","geneSymbols":["APC2","BNC2","CHRM3","HNRNPH1","IGF2","MID1","NSD1","SETD2","SRCAP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BILATERAL_RENAL_AGENESIS":{"collection":"C5:HPO","systematicName":"M46190","pmid":"","exactSource":"HP:0010958","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010958","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BILATERAL_RENAL_AGENESIS","geneSymbols":["FGF20","FREM2","GFRA1","GLI3","GRIP1","HS2ST1","ITGA8","KIF14","NADSYN1","ROBO1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABSENCE_OF_STOMACH_BUBBLE_ON_FETAL_SONOGRAPHY":{"collection":"C5:HPO","systematicName":"M47168","pmid":"","exactSource":"HP:0010963","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010963","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENCE_OF_STOMACH_BUBBLE_ON_FETAL_SONOGRAPHY","geneSymbols":["ADGRG6","FANCB","KIF26A","NUP88","TRIP11","ZBTB42","ZIC3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CIRCULATING_LONG_CHAIN_FATTY_ACID_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M37708","pmid":"","exactSource":"HP:0010964","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010964","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_LONG_CHAIN_FATTY_ACID_CONCENTRATION","geneSymbols":["ABCD1","AMACR","CPT2","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PEX7","PHYH","SCP2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CIRCULATING_PHYTANIC_ACID_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M47169","pmid":"","exactSource":"HP:0010965","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010965","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_PHYTANIC_ACID_CONCENTRATION","geneSymbols":["AMACR","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PEX7","PHYH"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CIRCULATING_FATTY_ACID_ANION_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M37709","pmid":"","exactSource":"HP:0010966","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010966","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_FATTY_ACID_ANION_CONCENTRATION","geneSymbols":["ABCD4","ACAD8","ACAD9","ACADM","ACADS","COL7A1","COX16","CPT2","DLD","DNM1L","EHHADH","ETHE1","GATM","HADH","HADHA","LMBRD1","LYRM7","MCEE","MMACHC","MMP1","MT-TE","NADK2","NDUFAF6","PEX26","SCO1","SLC25A20","SLC34A1","SLC52A1","TANGO2","TRMU"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CIRCULATING_CARNITINE_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M47170","pmid":"","exactSource":"HP:0010967","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010967","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_CARNITINE_CONCENTRATION","geneSymbols":["ACAD8","ACAD9","ACADM","COL7A1","CPT2","DLD","EHHADH","GATM","HADH","MMP1","MT-TE","NADK2","NDUFAF6","SCO1","SLC25A20","SLC34A1","TRMU"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_GLYCOLIPID_METABOLISM":{"collection":"C5:HPO","systematicName":"M43385","pmid":"","exactSource":"HP:0010969","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010969","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_GLYCOLIPID_METABOLISM","geneSymbols":["ARSA","GLA","GM2A","HEXA","HEXB","KHK","LPIN1","MCOLN1","MT-CO1","MT-CO3","OBSCN","PSAP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ANEMIA_OF_INADEQUATE_PRODUCTION":{"collection":"C5:HPO","systematicName":"M37710","pmid":"","exactSource":"HP:0010972","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010972","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANEMIA_OF_INADEQUATE_PRODUCTION","geneSymbols":["ABCB7","ABCD3","ABCD4","ACVRL1","ADA2","AGGF1","ALAS2","ALDOA","ALG2","AMN","APC","ASXL1","ATP6AP1","ATRX","BCL11A","BRCA1","BRCA2","BRIP1","C2orf69","CARD10","CASP10","CAT","CBLIF","CD55","CDAN1","CDIN1","CLCNKB","CLPX","COL2A1","COL7A1","COX10","COX4I2","CP","CUBN","DAXX","DHFR","DIAPH1","DNAJC19","DNAJC21","DNM1L","EFL1","EIF2AK3","ELF4","ELMO2","ENG","ERCC4","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FARSA","FAS","FASLG","FDX2","FECH","FGF23","FN1","FOXP3","FTCD","GALNT2","GATA1","GDF2","HBA1","HBA2","HBB","HBD","HBG1","HBG2","HEATR3","HK1","HLA-DQA1","HLA-DQB1","HPRT1","HSCB","HSPA9","IL6ST","IREB2","IRX5","ISCU","KARS1","KCNE1","KCNN4","KCNQ1","KIF23","KIT","KLF1","LARS1","LARS2","LCAT","LMBRD1","LPIN2","MAD2L2","MMACHC","MMADHC","MMP1","MTHFD1","MTR","MTRR","MVK","MYD88","NAA10","OPA1","OSTM1","PALB2","PHGDH","PIEZO1","PLA2G4A","PNPO","PRDX1","PSMB8","PSMC1","PSTPIP1","PUS1","RAC2","RACGAP1","RAD51","RAD51C","RFWD3","RHAG","RHCE","RHD","RIPK1","RMRP","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS14","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS7","SAMD9L","SBDS","SCARB2","SEC23B","SF3B1","SFXN4","SHPK","SLC12A3","SLC19A1","SLC19A2","SLC25A10","SLC25A21","SLC25A38","SLC29A3","SLC35C1","SLC37A4","SLC46A1","SLC4A1","SLX4","SMAD4","SMPD1","SRD5A3","SRP54","SRSF2","STK11","SUCLA2","TAFAZZIN","TCN2","TEK","TET2","TF","TGFB1","TKFC","TMPRSS6","TOR1A","TPI1","TREX1","TRNT1","TSR2","UBA1","UBE2T","UMPS","UQCRFS1","WAS","WFS1","WIPF1","XRCC2","YARS2","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_MYELOID_LEUKOCYTE_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M37711","pmid":"","exactSource":"HP:0010974","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010974","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MYELOID_LEUKOCYTE_MORPHOLOGY","geneSymbols":["AARS1","ABCC9","ABCD4","ABHD5","ABL1","ACP5","ACTC1","ACTN2","ADA","ADA2","AGA","AK2","AMN","ANAPC1","ANKRD1","AP3B1","AP3D1","APOE","ASAH1","ASXL1","ATRX","BACH2","BAG3","BAG5","BCL11B","BCOR","BCR","BLNK","BRAF","BTK","BTNL2","CALR","CAMK2B","CAP2","CAPN3","CARD10","CARD11","CARD9","CARS1","CASP10","CBL","CD247","CD27","CD3D","CD3E","CD40","CD40LG","CD79A","CD79B","CDC40","CDCA7","CDH23","CDSN","CEBPE","CHD7","CIITA","CLPB","COG4","CRYAB","CSF3R","CSRP3","CTC1","CTLA4","CUBN","CXCR2","CXCR4","CYBA","CYBB","CYBC1","CYP26C1","DCLRE1C","DDX41","DES","DIAPH1","DKC1","DMD","DNAJC21","DNASE2","DNMT3B","DOCK8","DOLK","DSG2","DSP","EFL1","EIF2AK3","ELANE","EPG5","EPX","ERCC2","ERCC3","ETV6","EXTL3","FANCA","FANCC","FANCD2","FANCE","FANCG","FANCI","FAS","FASLG","FBXL4","FBXW7","FCGR3B","FDX2","FHL2","FIBP","FIP1L1","FKTN","FMO3","FNIP1","FOXP3","FTCD","FUT8","G6PC3","GATA1","GATA2","GATAD1","GFI1","GINS1","GLB1","GPI","GPR35","GSS","GTF2E2","GTF2H5","HAND2","HAVCR2","HAX1","HEATR3","HELLS","HLA-B","HLA-DPA1","HLA-DPB1","HLA-DRB1","HSCB","HTRA2","ICOS","IFNG","IFNGR1","IGHM","IGLL1","IKBKB","IKBKG","IKZF1","IL1RN","IL2RG","IL36RN","IL6ST","IL7R","IPO8","IRAK4","IRF2BP2","IRF8","ITCH","ITK","JAGN1","JAK1","JAK2","JPH2","KIT","KRAS","LAMA4","LAMTOR2","LBR","LCP2","LDB3","LIG4","LIPA","LMBRD1","LMNA","LMOD2","LRBA","LRRC8A","LYST","MAD2L2","MDM4","MECOM","MEFV","MMAA","MMAB","MMACHC","MMUT","MPL","MPLKIP","MSN","MST1","MTHFD1","MTRR","MVK","MYBPC3","MYD88","MYH6","MYH7","MYH9","MYPN","MYSM1","NABP1","NBAS","NCAPG2","NCF1","NCF2","NCF4","NDUFA6","NEU1","NEXN","NHP2","NLRP1","NLRP3","NOP10","NPC1","NPC2","NPM1","NR3C1","NRAS","NSUN2","NUMA1","OTULIN","PACS2","PARN","PCCA","PCCB","PDGFRA","PDGFRB","PGM3","PIK3CD","PIK3CG","PIK3R1","PLN","PML","PMM2","PNP","PPCS","PPIL1","PRDM16","PRDX1","PRF1","PRKAR1A","PRKCD","PRTN3","PSEN1","PSEN2","PTPN22","RAB27A","RAC2","RAF1","RAG1","RAG2","RARA","RASGRP1","RBM20","RBM8A","RECQL4","RELB","RFX5","RFXANK","RFXAP","RMRP","RNF113A","RNU4ATAC","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL3L","RPL5","RPL8","RPL9","RPS10","RPS14","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS7","RTEL1","RUNX1","SAMD9","SAMD9L","SASH3","SBDS","SCN5A","SDHA","SEC61A1","SEMA4D","SF3B1","SFXN4","SGCD","SGCG","SH2B3","SH2D1A","SLC19A1","SLC27A4","SLC29A3","SLC35A1","SLC35C1","SLC37A4","SLC39A7","SLC46A1","SLC7A7","SMARCAL1","SMARCD2","SMPD1","SPI1","SPINK5","SPPL2A","SREBF1","SRP19","SRP54","SRSF2","STAT1","STAT3","STAT5B","STK4","STX11","STXBP2","TAF1A","TAFAZZIN","TARS1","TBK1","TBL1XR1","TBX21","TCAP","TCF3","TCF4","TCIRG1","TCN2","TDP2","TERC","TERT","TET2","TFR2","TFRC","TICAM1","TINF2","TLR3","TLR8","TMEM147","TMPO","TNNC1","TNNI3","TNNT2","TOM1","TONSL","TP53","TPM1","TPP2","TRAC","TRAF3","TSR2","TTN","TXNRD2","TYMS","UBE2A","UNC13D","UNC93B1","USB1","USP48","USP8","VCL","VEZF1","VPS13B","VPS33A","VPS45","WAS","WDR1","WIPF1","WRAP53","XIAP","ZAP70","ZBTB16","ZBTB24","ZNF341","ZNFX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_B_LYMPHOCYTOPENIA":{"collection":"C5:HPO","systematicName":"M37712","pmid":"","exactSource":"HP:0010976","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010976","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_B_LYMPHOCYTOPENIA","geneSymbols":["ADA","ALG12","ARHGEF1","ATP11A","B2M","BTK","CD79A","CD79B","DCLRE1B","DCLRE1C","DOCK8","FCHO1","FNIP1","GATA2","GFI1","ICOS","IGHM","IGLL1","IKBKG","IKZF1","IKZF3","IL2RA","IVNS1ABP","JAK3","KNSTRN","LRBA","MCM10","MYD88","MYSM1","NBN","NFKB2","NHEJ1","PIK3CD","PIK3R1","POMP","PRIM1","PRKDC","PTEN","PTPRC","RAC2","RAG1","RAG2","REL","RIPK1","SASH3","SLC39A7","SPI1","STAT1","SYK","TCF3","TLR8","TNFRSF9","TOM1","TRNT1","UNC119","WDR1","ZBTB24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_IMMUNE_SYSTEM_PHYSIOLOGY":{"collection":"C5:HPO","systematicName":"M47171","pmid":"","exactSource":"HP:0010978","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010978","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_IMMUNE_SYSTEM_PHYSIOLOGY","geneSymbols":["A2ML1","AARS1","AASS","ABCA12","ABCA3","ABCB1","ABCB11","ABCB4","ABCC6","ABCC8","ABCC9","ABCD1","ACADVL","ACD","ACP5","ACTA1","ACTB","ACTC1","ACTG2","ACTN4","ACVRL1","ADA","ADA2","ADAM17","ADAMTS2","ADAMTS3","ADAMTSL2","ADAR","ADAT3","ADNP","ADORA2A","AEBP1","AFF4","AGA","AGL","AGPAT2","AGR2","AGRN","AGXT","AICDA","AIP","AIRE","AK2","AKR1D1","AKT1","AKT2","ALB","ALDH18A1","ALDH1A2","ALDH3A2","ALG1","ALG12","ALG13","ALG14","ALG3","ALG5","ALG9","ALMS1","ALOX12B","ALOX5","ALOXE3","ALPL","AMACR","AMN","ANAPC1","ANGPT2","ANK1","ANKFY1","ANKRD11","ANKRD17","ANKRD55","ANLN","ANO5","ANTXR2","AP1B1","AP1S3","AP2S1","AP3B1","AP3D1","APC","APC2","APOA1","APOC2","APOE","APOL1","APPL1","APRT","AR","ARHGAP24","ARHGAP29","ARHGDIA","ARHGEF1","ARHGEF2","ARHGEF38","ARID1A","ARID1B","ARID2","ARL2BP","ARL3","ARL6","ARMC5","ARPC1B","ARSB","ARSL","ARVCF","ASAH1","ASPRV1","ASXL1","ASXL3","ATAD1","ATL1","ATL3","ATM","ATN1","ATOH7","ATP6AP1","ATP6AP2","ATP6V0A1","ATP6V0A2","ATP6V1B2","ATP7A","ATP7B","ATP8B1","ATR","ATRX","AUTS2","AXIN1","B2M","B3GALT6","B4GALT1","BACH2","BANK1","BAP1","BAZ1B","BBS1","BCAP31","BCHE","BCKDHA","BCKDHB","BCL10","BCL11A","BCL11B","BCL2","BCL6","BCL7B","BCOR","BCR","BCS1L","BICC1","BICRA","BIRC3","BLK","BLM","BLNK","BLOC1S6","BMP4","BNC2","BPTF","BRAF","BRCA1","BRCA2","BRD4","BRIP1","BSCL2","BTD","BTK","BTNL2","BUB1","BUB1B","BUB3","BUD23","C1GALT1C1","C1QA","C1QB","C1QC","C1R","C1S","C2","C2orf69","C3","C4A","C4B","C5","C6","C7","C8A","C8B","C9","CACNA1B","CACNA1C","CACNA1G","CALR","CAMK2B","CAPN3","CAPN5","CARD10","CARD11","CARD14","CARD8","CARD9","CARMIL2","CARS1","CASP10","CASP8","CASR","CAT","CAV1","CAVIN1","CBL","CBS","CCBE1","CCDC103","CCDC22","CCDC28B","CCDC39","CCDC40","CCDC47","CCDC65","CCL11","CCN2","CCN6","CCND1","CCNO","CCR1","CCR6","CCT5","CD151","CD19","CD244","CD247","CD27","CD28","CD2AP","CD3D","CD3E","CD3G","CD4","CD40","CD40LG","CD46","CD55","CD70","CD79A","CD79B","CD81","CD8A","CD96","CDC42","CDC42BPB","CDC45","CDC73","CDCA7","CDH1","CDH23","CDH3","CDK10","CDKN1B","CDKN1C","CDON","CDSN","CEACAM3","CEACAM6","CEBPE","CEL","CEP57","CERS3","CFAP221","CFAP298","CFAP300","CFAP410","CFAP45","CFAP52","CFAP74","CFB","CFD","CFH","CFHR1","CFHR3","CFHR5","CFI","CFP","CFTR","CHAMP1","CHAT","CHD1","CHD7","CHRM3","CHRNA1","CHRNA3","CHRNB1","CHRND","CHRNE","CHST14","CIB1","CIC","CIDEC","CIITA","CISD2","CITED2","CLCA4","CLCN7","CLCNKB","CLDN1","CLDN16","CLDN19","CLEC7A","CLIP2","CLN3","CLPB","CLTCL1","CLTRN","CNBP","COBLL1","COG1","COG4","COG6","COG7","COG8","COL11A1","COL11A2","COL13A1","COL17A1","COL1A1","COL2A1","COL3A1","COL4A3","COL4A4","COL4A5","COL4A6","COL5A1","COL5A2","COL6A1","COL6A2","COL6A3","COL7A1","COLQ","COMT","COPA","COQ8B","CORIN","CORO1A","COX4I2","COX8A","CPA1","CPLX1","CPN1","CPSF3","CR2","CRB2","CREBBP","CRIPT","CRKL","CRLF1","CRYAB","CSF2RA","CSF2RB","CSF3R","CSNK2A1","CSPP1","CST6","CSTA","CTBP1","CTC1","CTCF","CTLA4","CTNNB1","CTNNBL1","CTPS1","CTRC","CTSB","CTSC","CUBN","CUL4B","CXCR2","CXCR4","CYBA","CYBB","CYBC1","CYP11B1","CYP4F22","CYP7A1","CYP7B1","CYSLTR2","DAAM2","DBR1","DBT","DCDC2","DCLRE1B","DCLRE1C","DCTN4","DDB1","DDB2","DDOST","DDR2","DDX41","DDX59","DDX6","DEAF1","DEF6","DGCR2","DGCR6","DGCR8","DGKE","DHCR7","DIAPH1","DIP2B","DISC1","DISP1","DKC1","DLG1","DLK1","DLL1","DLL3","DLX4","DNAAF1","DNAAF11","DNAAF2","DNAAF3","DNAAF4","DNAAF5","DNAAF6","DNAH1","DNAH11","DNAH5","DNAH7","DNAH9","DNAI1","DNAI2","DNAJB11","DNAJB13","DNAJC21","DNAJC3","DNAJC30","DNAL1","DNASE1","DNASE1L3","DNASE2","DNMT1","DNMT3B","DOCK2","DOCK8","DOHH","DOK7","DOLK","DPF2","DPM2","DPP9","DPYSL5","DRC1","DSE","DSG1","DUT","DYM","DYNC2I2","DYRK1A","DZIP1L","EBP","ECE1","ECM1","EDA","EDAR","EDARADD","EDN3","EDNRA","EDNRB","EFEMP2","EFL1","EGFR","EHMT1","EIF2AK3","EIF2AK4","EIF4H","ELANE","ELF4","ELN","ELOVL4","ELP1","EMP2","EN1","ENG","ENPP1","EOMES","EP300","EPB42","EPCAM","EPG5","EPHB4","EPM2A","ERAP1","ERBB2","ERBB3","ERCC1","ERCC2","ERCC3","ERCC4","ERCC5","ERCC6","ERCC8","ERF","ESR1","ESS2","ETS1","EXOSC9","EXT1","EXTL3","EYA4","F13A1","F13B","F5","FADD","FAM111B","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FARSB","FAS","FASLG","FAT4","FBLN5","FBN1","FBXL4","FBXO11","FBXO28","FBXW7","FCGR2A","FCGR2B","FCGR3A","FCGR3B","FCHO1","FCN3","FCSK","FECH","FERMT1","FERMT3","FGA","FGF10","FGF3","FGF8","FGFR1","FGFR2","FGFR3","FGFRL1","FH","FHL1","FIG4","FIP1L1","FKBP6","FLG","FLG2","FLI1","FLII","FLNA","FLNC","FLT1","FLT4","FLVCR1","FMO3","FMR1","FNIP1","FOCAD","FOXC2","FOXD3","FOXH1","FOXJ1","FOXN1","FOXP1","FOXP2","FOXP3","FRAS1","FUCA1","FUT8","FZD2","G6PC1","G6PC3","GAA","GALC","GALK1","GALM","GALNS","GALT","GANAB","GAPVD1","GAS1","GAS2L2","GAS8","GATA1","GATA2","GATA3","GATA4","GATA6","GBA1","GCGR","GCK","GCLC","GDNF","GEMIN4","GFI1","GFM2","GGT1","GIMAP5","GINS1","GIPC1","GJA1","GJB2","GJB3","GJB4","GJB6","GJC2","GK","GLB1","GLI2","GLI3","GLIS3","GLRA1","GLRA2","GLRB","GLUL","GMNN","GNA11","GNAQ","GNAS","GNB1","GNB2","GNPTAB","GNS","GON7","GORAB","GOT2","GP1BA","GP1BB","GP9","GPC3","GPC4","GPHN","GPIHBP1","GPR101","GPR35","GRB10","GRHL2","GRHL3","GRHPR","GRIA1","GRIA3","GRIN2A","GRM7","GSN","GSTM3","GTF2E2","GTF2H5","GTF2I","GTF2IRD1","GTF2IRD2","GUCY2C","GUSB","H3-3B","H4C3","H4C5","H6PD","HACD1","HAVCR2","HAX1","HBA1","HBA2","HBB","HBG1","HBG2","HCK","HDAC4","HDAC8","HELLS","HEPHL1","HERC2","HES7","HFE","HGD","HGSNAT","HIRA","HLA-A","HLA-B","HLA-C","HLA-DPA1","HLA-DPB1","HLA-DQA1","HLA-DQB1","HLA-DRB1","HLA-G","HLCS","HMGA2","HMGCL","HMOX1","HNF1A","HNF4A","HNMT","HNRNPA2B1","HOXA13","HPGD","HPS1","HPS6","HPSE2","HSD3B7","HSPA9","HSPG2","HYAL1","HYDIN","HYMAI","HYOU1","IARS1","IARS2","ICOS","IDH1","IDS","IDUA","IER3IP1","IFIH1","IFNAR1","IFNAR2","IFNG","IFNGR1","IFNGR2","IFT122","IFT140","IFT172","IGBP1","IGF2","IGF2R","IGHG1","IGHG2","IGHM","IGKC","IGLL1","IGSF3","IKBKB","IKBKG","IKZF1","IKZF3","IL10","IL10RA","IL10RB","IL11RA","IL12A","IL12A-AS1","IL12B","IL12RB1","IL13","IL17F","IL17RA","IL17RC","IL18BP","IL1R1","IL1RN","IL21","IL21R","IL23R","IL2RA","IL2RB","IL2RG","IL36RN","IL37","IL4R","IL6","IL6R","IL6ST","IL7","IL7R","INAVA","INF2","INPPL1","INS","INSR","IPO8","IQSEC2","IRAK1","IRAK4","IRF2BP2","IRF3","IRF4","IRF5","IRF6","IRF7","IRF8","IRF9","IRGM","ISG15","ISL1","ITCH","ITGA3","ITGA6","ITGA7","ITGAM","ITGB2","ITGB4","ITK","ITPR3","IVNS1ABP","JAGN1","JAK1","JAK2","JAK3","JAZF1","JMJD1C","KANK2","KANSL1","KARS1","KAT5","KAT6A","KAT6B","KATNIP","KCNJ11","KCNJ6","KCNN4","KCTD1","KDF1","KDM5C","KDM6A","KDSR","KIAA0319L","KIAA0586","KIF11","KIF12","KIF15","KIF1A","KIF20A","KIRREL1","KIT","KLF1","KLF11","KLHDC8B","KLLN","KLRC4","KMT2A","KMT2B","KMT2C","KMT2D","KMT5B","KNSTRN","KPTN","KRAS","KRT1","KRT10","KRT14","KRT17","KRT18","KRT5","KRT74","KRT9","KYNU","L2HGDH","LACC1","LAGE3","LAMA2","LAMA3","LAMB2","LAMB3","LAMC2","LAMTOR2","LAT","LBR","LCK","LCP2","LDHA","LEMD3","LEP","LEPR","LETM1","LFNG","LGI3","LHCGR","LIFR","LIG1","LIG3","LIG4","LIMK1","LIPN","LMBRD1","LMF1","LMNA","LMNB1","LMNB2","LMOD1","LMX1B","LONP1","LPIN1","LPIN2","LPL","LRBA","LRIF1","LRIG2","LRP12","LRRC32","LRRC56","LRRC8A","LSM11","LSS","LTBP1","LTBP3","LTBP4","LYST","LYZ","MAB21L1","MAD2L2","MAF","MAGEL2","MAGI2","MAGT1","MALT1","MAN2B1","MANBA","MAP3K20","MAP3K7","MAPK1","MARS2","MASP2","MBD5","MBL2","MBTPS2","MC2R","MCCC2","MCIDAS","MCM10","MCM4","MDFIC","MDM4","MECP2","MED12","MED13L","MED25","MEFV","MEG3","MEGF10","MEIS2","MEN1","MESP2","MET","METTL27","MGAT2","MGME1","MGP","MIA3","MID1","MIF","MINPP1","MIR140","MKRN3","MLPH","MLX","MLXIPL","MMACHC","MME","MMEL1","MMP1","MMP2","MMUT","MNS1","MNX1","MOGS","MORC2","MPDU1","MPEG1","MPL","MPLKIP","MPV17","MRAP","MRTFA","MS4A1","MS4A2","MSMO1","MSN","MST1","MSX1","MT-CO1","MT-CO2","MT-CO3","MT-ND1","MT-ND4","MT-ND5","MT-ND6","MT-TF","MT-TH","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TW","MTAP","MTHFD1","MTM1","MTOR","MTTP","MUC5B","MUC7","MVK","MYC","MYCN","MYD88","MYH11","MYH3","MYH6","MYH9","MYL2","MYL9","MYLK","MYO1E","MYO1H","MYO5A","MYO9A","MYPN","MYSM1","NAA10","NABP1","NADK2","NAE1","NAGLU","NARS2","NAXD","NBEA","NBN","NCF1","NCF2","NCF4","NCKAP1L","NCSTN","NDE1","NDN","NDP","NDUFA6","NDUFC2","NDUFS3","NECTIN1","NEK10","NEK9","NELFA","NEPRO","NEUROD1","NF1","NFASC","NFE2L2","NFIX","NFKB1","NFKB2","NFKBIA","NFKBIL1","NFS1","NGF","NGLY1","NHEJ1","NHLRC1","NHLRC2","NHP2","NIPAL4","NIPBL","NKX2-1","NKX2-5","NLRC4","NLRP1","NLRP12","NLRP3","NME5","NME8","NNT","NOD2","NODAL","NOP10","NOS1","NOTCH2","NOTCH2NLC","NPAP1","NPHS1","NPHS2","NPM1","NR1H4","NR3C1","NRAS","NRTN","NSD1","NSD2","NSMCE2","NSMCE3","NSUN2","NTRK1","NUMA1","NUP107","NUP133","NUP160","NUP205","NUP214","NUP37","NUP85","NUP93","NXN","OAS1","OBSCN","OCA2","OCRL","ODAD1","ODAD2","ODAD3","ODAD4","ODC1","OFD1","OPLAH","ORAI1","ORC6","OSGEP","OSTM1","OTULIN","P4HA2","P4HTM","PACS1","PAFAH1B1","PAH","PAK2","PALB2","PANK2","PAPSS2","PARN","PAX1","PAX2","PAX4","PAX6","PCCA","PCCB","PCGF2","PCNT","PCYT1A","PDCD1","PDE11A","PDE4D","PDGFRA","PDGFRL","PDHA1","PDX1","PEPD","PERCC1","PET117","PEX19","PEX5","PGM1","PGM2L1","PGM3","PHGDH","PHIP","PHKA2","PHKB","PHKG2","PI4KA","PIEZO1","PIGA","PIGG","PIGN","PIGT","PIGU","PIGY","PIK3CA","PIK3CD","PIK3CG","PIK3R1","PKD1","PKD2","PKHD1","PKP1","PLA2G6","PLA2G7","PLAG1","PLAGL1","PLCD1","PLCE1","PLCG2","PLCH1","PLEC","PLEKHM1","PLG","PLOD1","PLP1","PLVAP","PLXND1","PML","PMM2","PNP","PNPLA1","PNPLA2","POFUT1","POGLUT1","POGZ","POLA1","POLE","POLG","POLH","POLR2A","POLR3A","POLR3F","POLR3GL","POMP","POU2AF1","PPARG","PPM1D","PPP1R21","PRDM12","PREPL","PRF1","PRG4","PRIM1","PRKACA","PRKAR1A","PRKAR1B","PRKCD","PRKDC","PRMT7","PRORP","PRPS1","PRSS1","PRSS2","PRTN3","PSAP","PSEN1","PSENEN","PSMB10","PSMB4","PSMB8","PSMB9","PSMD12","PSMG2","PSPH","PSTPIP1","PTCD3","PTCH1","PTEN","PTGER2","PTPN2","PTPN22","PTPRC","PTPRO","PURA","PWAR1","PWRN1","PXK","PYROXD1","RAB27A","RAB3GAP2","RAB7A","RAC1","RAC2","RAD21","RAD50","RAD51","RAD51C","RAG1","RAG2","RAI1","RALGAPA1","RANBP2","RAPSN","RARA","RASGRP1","RBCK1","RBM8A","RBP4","RECQL","RECQL4","REEP1","REL","RELA","RELB","RET","RETREG1","REV3L","RFC2","RFT1","RFWD3","RFX5","RFX7","RFXANK","RFXAP","RHAG","RHCE","RHD","RHOH","RIC1","RILPL1","RIN2","RIPK1","RIPPLY2","RIT1","RMRP","RNASEH2A","RNASEH2B","RNASEH2C","RNF113A","RNF125","RNF13","RNF168","RNF2","RNU12","RNU4ATAC","RNU7-1","ROR2","RORC","RPA1","RPGR","RPL10","RPL11","RPS14","RRAS2","RREB1","RSPH1","RSPH3","RSPH4A","RSPH9","RTEL1","RTL1","RTTN","RUNX1","RUNX2","RYR1","SAMD9","SAMD9L","SAMHD1","SASH3","SAT1","SATB1","SATB2","SBDS","SCARB2","SCGB3A2","SCN10A","SCN11A","SCN4A","SCN9A","SCNN1A","SCNN1B","SCNN1G","SDCCAG8","SDHA","SDHB","SDHC","SDHD","SDR9C7","SEC23B","SEC24C","SEC61A1","SELENON","SEMA3C","SEMA3D","SEMA3E","SEMA4D","SEMA6B","SEPSECS","SERAC1","SERPINA1","SERPING1","SERPINH1","SETBP1","SETD1A","SETD2","SETX","SF3B1","SFTPA2","SFTPB","SFTPC","SGCG","SGSH","SH2D1A","SH3KBP1","SH3PXD2B","SHANK3","SHH","SHOC2","SHPK","SHROOM4","SIAH1","SIK1","SIK3","SIM1","SIN3A","SIX3","SKIC2","SKIC3","SLC11A1","SLC12A3","SLC18A3","SLC1A4","SLC22A4","SLC25A1","SLC25A12","SLC25A13","SLC25A15","SLC25A22","SLC25A24","SLC26A2","SLC26A9","SLC27A4","SLC29A3","SLC2A1","SLC2A10","SLC30A2","SLC35A1","SLC35A2","SLC35C1","SLC37A4","SLC39A4","SLC39A7","SLC39A8","SLC3A1","SLC41A1","SLC46A1","SLC4A1","SLC52A3","SLC5A2","SLC5A6","SLC5A7","SLC6A14","SLC6A19","SLC6A5","SLC7A7","SLC7A9","SLC9A3","SLCO2A1","SLF2","SLURP1","SLX4","SMAD3","SMARCA2","SMARCA4","SMARCAD1","SMARCAL1","SMARCB1","SMARCC2","SMARCD1","SMARCD2","SMARCE1","SMC1A","SMC3","SMG8","SMG9","SMN1","SMO","SMPD1","SNAP25","SNAP29","SNORA31","SNORD115-1","SNORD116-1","SNRPN","SNX10","SOCS1","SON","SOX11","SOX17","SOX18","SOX4","SOX6","SOX9","SP110","SPAG1","SPATA5","SPEF2","SPI1","SPIB","SPINK1","SPINK5","SPP1","SPPL2A","SPTA1","SPTB","SPTBN1","SPTBN4","SPTLC1","SPTLC2","SRCAP","SRD5A3","SREBF1","SRP19","SRP54","SRSF2","SRY","ST14","STAG2","STAR","STAT1","STAT2","STAT3","STAT4","STAT5B","STIL","STIM1","STING1","STK36","STK4","STOX1","STUB1","STX11","STX16","STX1A","STX3","STXBP1","STXBP2","SUCLG1","SUFU","SULT2B1","SUOX","SYK","SYT2","TAF1","TAFAZZIN","TALDO1","TAOK1","TAP1","TAP2","TAPBP","TARS1","TASP1","TBC1D23","TBC1D24","TBC1D2B","TBC1D7","TBC1D8B","TBCD","TBCE","TBCK","TBK1","TBL1XR1","TBL2","TBX1","TBX19","TBX2","TBX20","TBX21","TBX4","TBX6","TBXAS1","TCEAL1","TCF3","TCF4","TCIRG1","TCN2","TCTN3","TDGF1","TECPR2","TEK","TERC","TERT","TET2","TF","TFE3","TFG","TFRC","TG","TGDS","TGFB1","TGFB2","TGFB3","TGFBR1","TGFBR2","TGIF1","TGM1","TGM5","THBD","THOC6","THRB","TICAM1","TIMM8A","TIMMDC1","TINF2","TK2","TKFC","TKT","TLK2","TLL1","TLR3","TLR4","TLR7","TLR8","TMC6","TMC8","TMCO1","TMEM270","TMEM70","TMEM94","TNF","TNFAIP3","TNFRSF11A","TNFRSF13B","TNFRSF13C","TNFRSF1A","TNFRSF1B","TNFRSF4","TNFRSF9","TNFSF11","TNFSF12","TNFSF15","TNFSF4","TNIP1","TNNI3","TNNT2","TNPO3","TNRC6B","TNXB","TOM1","TONSL","TOP3A","TP53","TP53RK","TP63","TP73","TPI1","TPM2","TPM3","TPP2","TPR","TPRKB","TRAC","TRAF3","TRAF3IP2","TRAF6","TRAIP","TRAPPC11","TRAPPC2","TREX1","TRHR","TRIM37","TRIM8","TRIO","TRIP11","TRIP13","TRIP4","TRMT10A","TRMU","TRNT1","TRPC6","TRPM4","TRPS1","TRRAP","TSC1","TSC2","TSEN15","TSEN2","TSEN34","TSEN54","TSHB","TSHR","TTC12","TTC26","TTC7A","TXNRD2","TYK2","TYMS","UBA1","UBA2","UBAC2","UBB","UBE2A","UBE2L3","UBE2T","UBE3B","UFC1","UFD1","UGP2","UMOD","UMPS","UNC119","UNC13D","UNC45A","UNC93B1","UNG","UQCRH","UROC1","UROD","UROS","USB1","USF3","USP26","USP48","USP7","USP8","USP9X","VAMP1","VANGL1","VARS1","VIPAS39","VPS33A","VPS33B","VPS35L","VPS37D","VPS45","VPS4A","VPS51","WAC","WAS","WASF1","WASHC5","WDR1","WDR11","WDR19","WDR26","WDR35","WDR4","WDR73","WFS1","WIPF1","WNT4","WRAP53","WT1","XDH","XIAP","XPA","XPC","XPNPEP3","XRCC2","XRCC4","XYLT1","YARS1","YRDC","YY1","ZAP70","ZBTB16","ZBTB24","ZBTB7A","ZEB1","ZEB2","ZFAT","ZFP57","ZIC2","ZMYND10","ZNF341","ZNF668","ZNF699","ZNF750","ZNFX1","ZNHIT3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_LIPOPROTEIN_CHOLESTEROL_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M37714","pmid":"","exactSource":"HP:0010979","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010979","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_LIPOPROTEIN_CHOLESTEROL_CONCENTRATION","geneSymbols":["ABCA1","ABCA2","ABCG5","ABCG8","ALB","ALG6","ALMS1","ANGPTL3","APOA1","APOA2","APOA5","APOB","APOC2","APOC3","APOE","B4GALT1","CCDC115","CELA2A","CEP19","CETP","CREB3L3","CYP7A1","DYRK1B","EMD","EPHX2","FDFT1","FHL1","GALNT2","GHR","GPIHBP1","LCAT","LDLR","LDLRAP1","LIPA","LIPC","LMNA","LPL","LRP6","MSMO1","MTTP","NGLY1","PANK2","PCSK9","PPARG","PPP1R17","PSMB8","SAR1B","SLC25A13","SLC7A7","SMPD1","SYNE1","SYNE2","TMEM199","TMEM43","TTPA","UBR1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPERLIPOPROTEINEMIA":{"collection":"C5:HPO","systematicName":"M37715","pmid":"","exactSource":"HP:0010980","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010980","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERLIPOPROTEINEMIA","geneSymbols":["ABCA2","ABCG5","ABCG8","ALB","APOA2","APOA5","APOB","APOC2","APOC3","APOE","CCDC115","CELA2A","CEP19","CETP","CYP7A1","DYRK1B","EMD","EPHX2","FHL1","GHR","GPIHBP1","LCAT","LDLR","LDLRAP1","LIPA","LIPC","LMNA","LPL","LRP6","PCSK9","PPP1R17","SLC25A13","SLC7A7","SMPD1","SYNE1","SYNE2","TMEM199","TMEM43","TTPA","UBR1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPOLIPOPROTEINEMIA":{"collection":"C5:HPO","systematicName":"M37716","pmid":"","exactSource":"HP:0010981","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010981","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOLIPOPROTEINEMIA","geneSymbols":["ABCA1","ALG6","ALMS1","ANGPTL3","APOA1","APOA5","APOB","APOC3","APOE","B4GALT1","CELA2A","CEP19","CREB3L3","FDFT1","GALNT2","GPIHBP1","LCAT","LDLRAP1","LIPA","LMNA","MSMO1","MTTP","NGLY1","PANK2","PPARG","PSMB8","SAR1B","SLC25A13","SLC7A7","SMPD1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_POLYGENIC_INHERITANCE":{"collection":"C5:HPO","systematicName":"M37717","pmid":"","exactSource":"HP:0010982","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010982","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POLYGENIC_INHERITANCE","geneSymbols":["A2ML1","ABCG8","ADRB3","AGRP","APOL1","BAX","BCR","BMP4","CARTPT","CFH","CST3","ENPP1","FKBP5","FLT3","GHRL","GNB1","HTR2A","HTRA1","IRF6","NBN","NLRP1","NR0B2","NUP214","POMC","PPARG","SDC3","SERPINH1","STOX1","TAL1","TAL2","TP53","TPH2","UCP3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DIGENIC_INHERITANCE":{"collection":"C5:HPO","systematicName":"M37718","pmid":"","exactSource":"HP:0010984","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010984","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DIGENIC_INHERITANCE","geneSymbols":["ADH5","DNMT3B","DYNC2H1","GDF3","GDF6","GJB2","GJB3","GJB6","LRIF1","NEK1","SLCO1B1","SLCO1B3","SMCHD1","TYMS"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_EXTRINSIC_PATHWAY":{"collection":"C5:HPO","systematicName":"M37720","pmid":"","exactSource":"HP:0010988","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010988","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_EXTRINSIC_PATHWAY","geneSymbols":["AHCY","ALG12","ALG6","ALG8","B4GALT1","DPAGT1","DPM1","DPM2","F7","GGCX","MGAT2","MPI","PGM1","PMM2","SERPINC1","SLC37A4","SRD5A3","VKORC1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_INTRINSIC_PATHWAY":{"collection":"C5:HPO","systematicName":"M37721","pmid":"","exactSource":"HP:0010989","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010989","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_INTRINSIC_PATHWAY","geneSymbols":["AHCY","ALG12","ALG2","ALG6","ALG8","ATP6V0A2","ATP6V1A","ATP6V1E1","B4GALT1","BRAF","DPAGT1","DPM1","DPM2","F11","F12","F8","F9","GGCX","KNG1","LMAN1","LZTR1","MAP2K1","MCFD2","MGAT2","MPI","NGLY1","PGM1","PMM2","PTPN11","SERPINC1","SLC37A4","SOS1","SRD5A3","VKORC1","VWF"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_COMMON_COAGULATION_PATHWAY":{"collection":"C5:HPO","systematicName":"M37722","pmid":"","exactSource":"HP:0010990","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010990","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_COMMON_COAGULATION_PATHWAY","geneSymbols":["AHCY","ALG12","ALG6","ANK1","ANO6","B4GALT1","BCOR","BRAF","CD46","CFH","CFI","EPB42","F10","F13A1","F13B","F5","FGA","FGB","FGG","FIP1L1","GGCX","GNA14","HAVCR2","HELLPAR","HRG","IRF2BP2","ITGB2","LMAN1","LYST","MAP2K1","MCFD2","MCM10","MGAT2","MPI","NABP1","NGLY1","NLRC4","NPM1","NUMA1","PLG","PML","PRF1","PRKAR1A","PTPN11","RARA","SERPINC1","SERPINE1","SLC37A4","SLC4A1","SLC7A7","SPTA1","SPTB","STAT3","STAT5B","STX11","STXBP2","TBL1XR1","TNFRSF9","UNC13D","VKORC1","XIAP","ZBTB16"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_MORPHOLOGY_OF_THE_ABDOMINAL_MUSCULATURE":{"collection":"C5:HPO","systematicName":"M37723","pmid":"","exactSource":"HP:0010991","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010991","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MORPHOLOGY_OF_THE_ABDOMINAL_MUSCULATURE","geneSymbols":["ACTG2","ATP7A","B3GLCT","BRAF","CANT1","CBL","CD96","CDKN1C","CHAMP1","CHRM3","CHRNG","CHST14","COL3A1","COLEC10","COLEC11","CSGALNACT1","DIS3L2","DLK1","ELMO2","EZH2","FBN1","FLNB","FOXF1","GNPTAB","GPC3","GPC4","GUSB","H19","IGF2","KCNQ1","KCNQ1OT1","KRAS","LZTR1","MANBA","MASP1","MCOLN1","MEG3","MRAS","MTOR","MYH3","NRAS","PIGQ","PORCN","PPP2R3C","PTPN11","RAF1","RASA2","RIT1","RMRP","RRAS","RRAS2","RTL1","SHPK","SKI","SLC25A24","SOS1","SOS2","SOX6","SPRED2","TBCK","XYLT1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CEREBRAL_SUBCORTEX_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M37724","pmid":"","exactSource":"HP:0010993","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010993","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CEREBRAL_SUBCORTEX_MORPHOLOGY","geneSymbols":["AARS1","AARS2","ABAT","ABCC9","ABCD1","ABHD16A","ACADS","ACER3","ACO2","ACOX1","ACP5","ACTA2","ACTB","ACTG1","ACTL6B","ACVR1","ACY1","ADAR","ADARB1","ADAT3","ADCY5","ADGRG1","ADH1C","ADNP","ADORA2A","ADSL","AGO1","AGTPBP1","AHCY","AHDC1","AHI1","AHSG","AIFM1","AIMP1","AIMP2","AKT3","ALDH18A1","ALDH6A1","ALDH7A1","ALG11","ALG12","ALG2","ALG3","ALG8","ALX1","ALX3","ALX4","AMER1","AMFR","AMPD2","AMT","ANKLE2","ANKRD11","AP1G1","AP1S2","AP2M1","AP3B2","AP4B1","AP4E1","AP4M1","AP4S1","AP5Z1","APC2","ARF1","ARFGEF2","ARHGAP31","ARID1A","ARID1B","ARID2","ARL13B","ARL3","ARMC9","ARNT2","ARSA","ARSI","ARV1","ARX","ASNS","ASPA","ASPM","ASXL1","ASXL2","ASXL3","ATAD3A","ATG7","ATL1","ATN1","ATP11A","ATP13A2","ATP1A2","ATP1A3","ATP6AP2","ATP6V1A","ATP8A2","ATP9A","ATPAF2","ATR","ATRX","ATXN2","ATXN3","ATXN8OS","AUH","B3GALNT2","B3GLCT","B4GALNT1","B4GAT1","B9D1","B9D2","BCAP31","BCAS3","BCL11B","BCOR","BICD2","BLTP1","BMP4","BPTF","BRAF","BRAT1","BRF1","BRPF1","BSCL2","BUB1","BUB1B","BUB3","C12orf57","C19orf12","C2CD3","C2orf69","CA2","CACNA1A","CACNA1B","CACNA1E","CACNA1G","CACNA1I","CACNA2D1","CAMK2A","CAMLG","CAMSAP1","CARS1","CARS2","CASK","CASR","CASZ1","CBY1","CC2D2A","CCDC174","CCDC47","CCDC88A","CCND2","CD96","CDC40","CDC42","CDC42BPB","CDH2","CDK10","CDK13","CDK19","CDK5","CDK5RAP2","CDK6","CDK8","CDKL5","CDON","CELF2","CENPE","CENPF","CENPJ","CEP104","CEP120","CEP135","CEP152","CEP290","CEP41","CEP57","CEP63","CEP85L","CFC1","CHD3","CHKA","CHMP1A","CHMP2B","CILK1","CIT","CLCN3","CLCN4","CLN5","CLN8","CLP1","CLPB","CLTC","CNBP","CNKSR2","CNOT1","CNOT3","CNP","CNTNAP1","CNTNAP2","COASY","COG2","COG4","COG5","COG6","COG7","COL4A1","COPB2","COQ8A","COX15","COX7B","CP","CPLANE1","CPLX1","CPSF3","CPT2","CREBBP","CRIPT","CRLS1","CRPPA","CSF1R","CSPP1","CTBP1","CTNNA2","CTNNB1","CTNS","CTSK","CTU2","CUL4B","CWF19L1","CYB5A","CYB5R3","CYFIP2","CYP11A1","CYP27A1","CYP2U1","CYP7B1","D2HGDH","DACT1","DAG1","DALRD3","DARS1","DARS2","DCC","DCDC2","DCHS1","DCX","DDB1","DDHD2","DDX3X","DDX59","DDX6","DEAF1","DEGS1","DENND5A","DHCR24","DHCR7","DHDDS","DHX16","DIAPH1","DIS3L2","DISC1","DISP1","DLAT","DLL1","DLL4","DMXL2","DNAJB4","DNAJC19","DNAL4","DNM1","DNM1L","DNMT1","DOCK6","DOCK7","DOHH","DONSON","DPAGT1","DPF2","DPH1","DPH2","DPM2","DPM3","DPYD","DPYS","DPYSL5","DYNC1H1","DYNC1I2","DYNC2H1","DYNC2I1","DYNC2I2","DYRK1A","EARS2","EBP","ECHS1","EDEM3","EEF1A2","EFNB1","EHMT1","EIF2AK2","EIF2B4","EIF2B5","EIF2S3","EMC1","EML1","EMX2","ENTPD1","EOGT","EOMES","EP300","EPG5","EPRS1","ERCC1","ERCC2","ERCC3","ERCC4","ERCC5","ERCC6","ERCC8","ERLIN2","ERMARD","ETHE1","EXOC2","EXOC7","EXOC8","EXOSC1","EXOSC2","EXOSC3","EXOSC8","EXOSC9","EXTL3","FA2H","FAM111A","FAM149B1","FANCB","FANCD2","FANCI","FAR1","FARS2","FARSA","FASTKD2","FAT4","FBP2","FBXL4","FBXO28","FBXO7","FBXW11","FCSK","FDFT1","FDXR","FGF12","FGF13","FGF8","FGFR1","FGFR2","FGFR3","FGFRL1","FH","FIG4","FKRP","FKTN","FLCN","FLI1","FLII","FLNA","FLVCR2","FOXA2","FOXG1","FOXH1","FOXP2","FRA10AC1","FRMD4A","FRMPD4","FTL","FZR1","GAA","GABBR2","GABRA2","GABRA5","GABRB1","GABRB2","GABRD","GABRG2","GAD1","GALC","GALNT2","GAS1","GATA3","GATAD2B","GBA1","GBA2","GBE1","GCDH","GCH1","GDF1","GET4","GFAP","GFER","GFM1","GFM2","GGT1","GJA1","GJB1","GJC2","GLB1","GLDC","GLI2","GLI3","GLRX5","GLUD2","GLUL","GLYCTK","GM2A","GMPPB","GNA11","GNAO1","GNAS","GNB2","GNPTAB","GOLGA2","GON7","GOT2","GPC3","GPC4","GPKOW","GPSM2","GPT2","GPX4","GRIA3","GRIA4","GRIK2","GRIN1","GRIN2A","GRIN2D","GRM7","GRN","GSX2","GTF2E2","GTF2H5","GTPBP2","GTPBP3","H1-4","H3-3A","HACE1","HCCS","HCN1","HDAC4","HECTD4","HECW2","HEPACAM","HERC1","HESX1","HHAT","HIBCH","HIC1","HID1","HIKESHI","HIVEP2","HK1","HMGCL","HNRNPK","HNRNPR","HNRNPU","HPDL","HRAS","HS2ST1","HSD17B10","HSD17B4","HSPA9","HSPG2","HTRA1","HTRA2","HTT","HUWE1","HYCC1","HYLS1","IBA57","IDH1","IDS","IER3IP1","IFIH1","IFT140","IFT27","IFT52","IFT74","IFT80","IGBP1","IGF1R","IMPDH2","INPP5E","IQSEC2","IREB2","IRF2BPL","ISCA2","ISG15","ITGB6","ITPR1","JAM2","JPH3","KANSL1","KARS1","KAT5","KAT6B","KAT8","KATNB1","KATNIP","KCNA1","KCNA2","KCNAB2","KCNB1","KCNK4","KCNMA1","KCNN2","KCNQ2","KCNT1","KCNT2","KCTD7","KDM1A","KDM3B","KDM4B","KDM5B","KIAA0586","KIAA0753","KIDINS220","KIF14","KIF15","KIF1C","KIF26A","KIF2A","KIF5A","KIF5C","KIF7","KIFBP","KMT2A","KMT2B","KMT2C","KMT2E","KNL1","KPNA3","KRAS","L1CAM","L2HGDH","LAMA1","LAMA2","LAMB1","LARGE1","LEMD2","LETM1","LHX3","LHX4","LIG3","LIG4","LIPT1","LIPT2","LMBR1","LMBRD2","LMNB1","LMNB2","LMX1B","LNPK","LONP1","LRP12","LRP2","LRPPRC","LRRC32","LRRK2","LSM11","LSS","LUZP1","LYRM7","LYSET","MACF1","MAF","MAG","MAN2B1","MAN2C1","MAP1B","MAP2K2","MAPK8IP3","MAPKAPK5","MAPRE2","MAPT","MAST1","MAST3","MBTPS2","MCM7","MCOLN1","MCPH1","MDH1","MDH2","MECR","MED12","MED12L","MED23","MED25","MED27","MEF2C","METTL5","MFF","MFSD2A","MICU1","MID1","MINPP1","MKS1","MLC1","MLH1","MMACHC","MMP23B","MMUT","MOCS1","MOCS2","MOGS","MORC2","MPDZ","MPLKIP","MRM2","MRPL12","MRPS16","MRPS22","MRPS25","MSTO1","MT-ATP6","MT-CO1","MT-CO2","MT-CO3","MT-CYB","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND5","MT-ND6","MT-TF","MT-TH","MT-TK","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TT","MT-TV","MT-TW","MTFMT","MTHFR","MTHFS","MTOR","MTRFR","MTRR","MYL9","MYORG","MYT1L","NAA10","NACC1","NADK2","NAE1","NAGA","NALCN","NANS","NARS1","NARS2","NAXD","NAXE","NCAPD3","NDE1","NDUFA2","NDUFA6","NDUFA8","NDUFA9","NDUFAF5","NDUFAF6","NDUFB11","NDUFB7","NDUFC2","NDUFS1","NDUFS4","NECAP1","NEDD4L","NEK1","NELFA","NEUROD2","NEXMIF","NF1","NFIA","NFIB","NFIX","NHLRC2","NKX2-1","NKX6-2","NMNAT1","NODAL","NONO","NOTCH1","NOTCH3","NOVA2","NPHP1","NR2F1","NR4A2","NRAS","NRCAM","NRROS","NSD1","NSD2","NSRP1","NSUN2","NSUN3","NT5C2","NTN1","NTRK2","NUDT2","NUP188","NUP37","NUP54","NUP62","NUS1","OCA2","OCRL","ODC1","OFD1","OGDHL","OPA1","OPHN1","OSGEP","OSTM1","OTUD5","OTUD6B","OTX2","PACS2","PAFAH1B1","PAH","PAK1","PANK2","PARS2","PAX6","PC","PCGF2","PCLO","PCNT","PDE10A","PDE6D","PDE8B","PDGFB","PDGFRB","PDHA1","PDHB","PDHX","PDP1","PDPN","PDSS2","PDYN","PEX1","PEX10","PEX16","PEX2","PGAP1","PGAP2","PGAP3","PHC1","PHGDH","PI4KA","PIBF1","PIEZO2","PIGA","PIGB","PIGG","PIGH","PIGL","PIGN","PIGP","PIGQ","PIGU","PIK3C2A","PIK3CA","PIK3R2","PITX1","PLA2G6","PLAA","PLCB1","PLCH1","PLEKHG2","PLK4","PLP1","PLPBP","PLXNA1","PMS2","PNKP","PNPT1","POGZ","POLG","POLG2","POLR1C","POLR2A","POLR3A","POLR3B","POLR3GL","POLR3K","POLRMT","POMGNT1","POMGNT2","POMK","POMT1","POMT2","PORCN","POU1F1","POU3F3","PPFIBP1","PPIL1","PPP1R12A","PPP1R15B","PPP1R21","PPP2CA","PPP2R1A","PPP2R3C","PPP2R5D","PPP3CA","PRDM16","PRF1","PRKCZ","PRKDC","PRKN","PRMT7","PRNP","PROKR2","PROP1","PRORP","PRPS1","PRR12","PRRX1","PRUNE1","PSAP","PSAT1","PSEN1","PSMB8","PSMG2","PTCH1","PTDSS1","PTEN","PTPN23","PUF60","PUS3","PYCR1","PYCR2","QARS1","RAB11B","RAB18","RAB23","RAB39B","RAB3GAP1","RAB3GAP2","RAC1","RAC3","RAD51","RAI1","RALGAPA1","RANBP2","RARS1","RB1","RBL2","RBM10","RBPJ","RECQL4","RELN","REPS1","RERE","RFT1","RFWD3","RHOBTB2","RIN2","RMND1","RNASEH2A","RNASEH2B","RNASEH2C","RNASET2","RNF113A","RNF13","RNF168","RNF220","RNU12","RNU4ATAC","RNU7-1","ROBO1","RORA","RPGRIP1","RPGRIP1L","RPL10","RPS6KA3","RRM2B","RSPO2","RSPRY1","RTTN","RUSC2","RXYLT1","SACS","SALL1","SAMD9L","SAMHD1","SARS1","SASS6","SATB2","SCN1A","SCN1B","SCN2A","SCN3A","SCN8A","SCO2","SCYL2","SDHB","SEC31A","SELENOI","SEPSECS","SETBP1","SETD2","SF3B2","SH3PXD2B","SHANK3","SHH","SHMT2","SHOC2","SIK1","SIN3A","SIN3B","SIX3","SIX6","SKI","SLC12A2","SLC12A5","SLC12A6","SLC13A3","SLC13A5","SLC18A3","SLC19A3","SLC1A2","SLC1A4","SLC20A2","SLC25A1","SLC25A10","SLC25A15","SLC25A19","SLC25A22","SLC25A24","SLC25A4","SLC25A46","SLC2A1","SLC2A3","SLC30A10","SLC30A9","SLC32A1","SLC35A2","SLC35B2","SLC38A3","SLC39A14","SLC44A1","SLC46A1","SLC5A6","SLC6A8","SLC6A9","SLC9A6","SLITRK2","SMARCA2","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SMC1A","SMG8","SMG9","SMO","SNAP29","SNCA","SNCAIP","SNIP1","SNORD118","SNX14","SON","SOX10","SOX11","SOX2","SOX3","SOX4","SPATA5","SPATA5L1","SPEN","SPG11","SPG21","SPG7","SPTAN1","SPTBN4","SQSTM1","SRPX2","SSR4","STAG2","STAMBP","STAT2","STIL","STRADA","STUB1","STX11","STXBP1","STXBP2","SUCLA2","SUCLG1","SUFU","SUGCT","SUMF1","SUOX","SUPT16H","SUZ12","SVBP","SYNE1","SYNGAP1","SYNJ1","SYT1","SYT2","SZT2","TACO1","TAF1","TAF13","TAF2","TAF8","TARS1","TARS2","TBC1D20","TBC1D23","TBC1D24","TBC1D7","TBCD","TBCE","TBCK","TBP","TCF12","TCF4","TCTN1","TCTN2","TCTN3","TDGF1","TECPR2","TET3","TGFB1","TGIF1","THOC2","THOC6","THUMPD1","TIAM1","TIMM50","TIMM8A","TK2","TM4SF20","TMCO1","TMEM106B","TMEM107","TMEM138","TMEM147","TMEM165","TMEM216","TMEM218","TMEM222","TMEM231","TMEM237","TMEM260","TMEM67","TMEM70","TMTC3","TMX2","TNR","TOE1","TOGARAM1","TOPORS","TP73","TPRKB","TRAK1","TRAPPC10","TRAPPC11","TRAPPC12","TRAPPC14","TRAPPC6B","TRAPPC9","TREM2","TREX1","TRIM8","TRIP13","TRMT1","TRMT10A","TRPM3","TRRAP","TSC1","TSC2","TSEN15","TSEN2","TSEN34","TSEN54","TTC5","TTI2","TUBA1A","TUBA8","TUBB","TUBB2A","TUBB2B","TUBB3","TUBG1","TUBGCP2","TWNK","TXNDC15","TYMP","TYROBP","UBA1","UBA5","UBE2A","UBE3A","UBE3B","UBE3C","UBE4B","UBTF","UFC1","UGP2","UNC13D","UNC80","UPF3B","UQCC3","USP7","USP8","USP9X","VAC14","VAMP2","VANGL2","VARS1","VARS2","VAX1","VCP","VPS11","VPS13A","VPS13B","VPS13D","VPS16","VPS41","VPS4A","VPS50","VPS51","VPS53","VRK1","VWA3B","WAC","WARS1","WARS2","WDR26","WDR35","WDR4","WDR45","WDR45B","WDR62","WDR73","WDR81","WLS","WNT3","WT1","WWOX","XPR1","YARS1","YIF1B","YWHAE","YWHAG","YY1","ZBTB18","ZBTB20","ZDHHC9","ZEB2","ZFR","ZFYVE26","ZIC1","ZIC2","ZMIZ1","ZNF148","ZNF335","ZNF423","ZNF462","ZNF526","ZNF699","ZNHIT3","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CORPUS_STRIATUM_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M37725","pmid":"","exactSource":"HP:0010994","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010994","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CORPUS_STRIATUM_MORPHOLOGY","geneSymbols":["ADAR","AIFM1","ASNS","ATP13A2","ATXN3","BSCL2","COASY","CP","DCX","FOXP2","FTL","GCDH","HTT","IFIH1","JPH3","LSM11","MECR","MT-ATP6","NDE1","NDUFAF5","NEK1","NUP54","NUP62","OPHN1","PDE10A","PDE8B","PNPT1","POLR3A","RANBP2","RNASEH2A","RNASEH2B","RNASEH2C","RNU7-1","SAMHD1","SLC2A3","TIMM8A","TREM2","TREX1","TUBB2B","TUBB3","TYROBP","VPS13A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CIRCULATING_DICARBOXYLIC_ACID_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M41404","pmid":"","exactSource":"HP:0010995","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010995","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_DICARBOXYLIC_ACID_CONCENTRATION","geneSymbols":["ABCB11","ABCB4","ABCC2","ABCD3","ABCD4","ACSF3","ADK","AKR1D1","ALDH6A1","ALDH7A1","ALDOA","ALDOB","AMACR","ANK1","ATP7B","ATP8B1","BAAT","BLVRA","CASK","CD320","CDAN1","CPOX","CPT2","CYP7B1","DCDC2","DGUOK","DNAJC19","DUOX2","DUOXA2","EIF2AK3","EPB41","EPB42","ETFA","ETFB","ETFDH","FARSB","FBP1","FDFT1","FH","FOCAD","G6PD","GATA1","GCDH","GLRX5","GPX1","GSR","GYPC","HBB","HCFC1","HK1","HSD3B7","IARS1","IDH2","IGF1","IL12A","IL12RB1","IRF5","IYD","KCNN4","KIF12","KIF23","KLF1","KMT2D","L2HGDH","LBR","LIPT1","LMBRD1","LRP5","MED12","MMAA","MMAB","MMACHC","MMADHC","MMEL1","MMUT","MTR","MTRR","MTTP","MYO5B","NAA10","NHLRC2","NR1H4","ODC1","OSTM1","OTX2","PAFAH1B1","PAX8","PEX14","PEX19","PEX2","PFKM","PGK1","PIEZO1","PIGA","PKHD1","PKLR","PNPLA6","POLG2","POMC","POU2AF1","PRDX1","PRF1","PRKCSH","RACGAP1","RFX6","RHAG","RHCE","RHD","RNU4ATAC","ROBO1","SC5D","SEC63","SEMA7A","SLC10A1","SLC17A5","SLC19A1","SLC25A13","SLC2A1","SLC2A2","SLC30A10","SLC35A2","SLC4A1","SLC51A","SLC5A5","SLCO1B1","SLCO1B3","SPIB","SPTA1","SPTB","SPTBN1","SUCLA2","SUCLG1","SUGCT","TCEAL1","TFAM","TG","TMEM67","TNFSF15","TNPO3","TPO","TRMU","TSHB","TSHR","TTC26","UBE2A","UBR1","UGT1A1","UQCRC2","UROS","VIPAS39","VPS33B","VPS50","WDR35","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CIRCULATING_MONOCARBOXYLIC_ACID_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M37726","pmid":"","exactSource":"HP:0010996","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010996","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_MONOCARBOXYLIC_ACID_CONCENTRATION","geneSymbols":["ABCB11","ABCB4","ABCD3","ABCD4","ACAD8","ACAD9","ACADM","ACADS","AKR1D1","AMACR","AP1B1","ATP8B1","CCDC47","COL7A1","COX16","CPT2","DLD","DNAJC21","DNM1L","DZIP1L","EFL1","EHHADH","ETHE1","GATM","HADH","HADHA","KIF12","LMBRD1","LYRM7","MCEE","MMACHC","MMP1","MT-TE","MYO5B","NADK2","NDUFAF6","NFU1","NR1H4","PEX26","PKHD1","SBDS","SCO1","SEMA7A","SLC10A1","SLC25A13","SLC25A20","SLC2A2","SLC34A1","SLC51B","SLC52A1","SRP54","TALDO1","TANGO2","TJP2","TRMU","UNC45A","VPS33B","VPS50"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CHROMOSOMAL_BREAKAGE_INDUCED_BY_IONIZING_RADIATION":{"collection":"C5:HPO","systematicName":"M37727","pmid":"","exactSource":"HP:0010997","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0010997","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHROMOSOMAL_BREAKAGE_INDUCED_BY_IONIZING_RADIATION","geneSymbols":["AKT1","BAP1","NF2","PDGFB","PIK3CA","RAD50","RNF168","SMARCB1","SMARCE1","SMO","SUFU","TERT","TRAF7"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INCREASED_BONE_MINERAL_DENSITY":{"collection":"C5:HPO","systematicName":"M37728","pmid":"","exactSource":"HP:0011001","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011001","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_BONE_MINERAL_DENSITY","geneSymbols":["AARS1","ACP5","AGXT","AMER1","ANKH","ANO5","AP1S2","BAZ1B","BCL7B","BMP1","BUD23","CA2","CARS1","CLCN7","CLIP2","CSF1R","CTSK","DHCR24","DLK1","DLX3","DMP1","DNAJC30","DVL1","EBP","EIF2AK3","EIF4H","ELN","ENPP1","ERCC2","ERCC3","ERCC6","ERCC8","FAM111A","FAM20C","FERMT3","FKBP6","FLNA","GBA1","GJA1","GNAS","GTF2E2","GTF2H5","GTF2I","GTF2IRD1","GTF2IRD2","HGSNAT","HHAT","HMGA2","HSPG2","KARS1","KL","LBR","LEMD3","LIMK1","LMNA","LPIN2","LRP4","LRP5","LRRK1","MAP2K1","MAP3K7","MC4R","MEG3","METTL27","MITF","MLXIPL","MPLKIP","MTAP","NAGLU","NCF1","NGLY1","NOTCH3","OSTM1","PHEX","PLEKHM1","PTDSS1","PTH1R","RBL2","RFC2","RNF113A","RTL1","RUNX2","SCARB2","SETBP1","SGSH","SIK3","SLC26A2","SLC29A3","SLC34A2","SLC39A14","SLC4A2","SNX10","SOST","SQSTM1","SRCAP","STX16","STX1A","TARS1","TBCE","TBL2","TBXAS1","TCIRG1","TGFB1","TMEM270","TMEM53","TNFRSF11A","TNFRSF11B","TNFSF11","TONSL","TRAPPC2","TRPS1","VCP","VPS37D","WRN"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_OSTEOPETROSIS":{"collection":"C5:HPO","systematicName":"M37729","pmid":"","exactSource":"HP:0011002","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011002","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OSTEOPETROSIS","geneSymbols":["AMER1","ANKH","CA2","CLCN7","CSF1R","DHCR24","FERMT3","GJA1","KARS1","LRP5","MITF","OSTM1","PLEKHM1","PTDSS1","SLC4A2","SNX10","TCIRG1","TNFRSF11A","TNFSF11"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HIGH_MYOPIA":{"collection":"C5:HPO","systematicName":"M37730","pmid":"","exactSource":"HP:0011003","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011003","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HIGH_MYOPIA","geneSymbols":["ADAMTS10","ADAMTS17","ADAMTSL4","ARR3","ASPH","ASXL1","ATP6V0A2","ATP6V1A","ATP6V1E1","B4GALT1","BAP1","BLOC1S3","CCNQ","CNGB3","COL11A1","COL11A2","COL18A1","COL2A1","COL9A1","COL9A2","COL9A3","COX7B","CPSF1","CRIPT","CRYAB","CYP1B1","CYP4V2","DAG1","DOHH","DPH5","EFEMP1","EFL1","ELOVL4","ERBB3","EXOSC2","FBN1","FGFR3","GLRA2","GPR179","GZF1","HCCS","HERC1","HS6ST2","IPO8","IRX5","KAT5","LAMB2","LOXL3","LRIT3","LRP2","LRPAP1","LTBP2","MAF","MFSD8","MYOC","NDP","NDUFB11","NFIX","NMNAT1","NYX","P3H2","P4HA2","PAK2","PAX2","PDE6H","POC1B","POLR3B","POMGNT1","PRDM5","PRIMPOL","RAB28","RECQL4","RIN2","RP2","RPGR","RPL10","SCO2","SLC39A5","SLITRK6","SMS","TBC1D24","TGFBI","TTC8","TTLL5","TTR","VPS50","ZNF408","ZNF469","ZNF644"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_SYSTEMIC_ARTERIAL_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M37731","pmid":"","exactSource":"HP:0011004","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011004","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SYSTEMIC_ARTERIAL_MORPHOLOGY","geneSymbols":["ABCA1","ABCC6","ABCD4","ABCG5","ABCG8","ABL1","ACTA2","ACVR2B","ADA2","ADAMTS19","ADAMTSL1","ADAR","ADK","AEBP1","AFF4","AGXT","ALDH18A1","ALDH1A2","ALG3","ALG5","ALG9","ALMS1","AMER1","ANAPC7","ANGPTL6","ANTXR1","APC2","APOA1","APOA2","APOA5","APOB","APOE","APP","ARF1","ARFGEF2","ARL6IP6","ARVCF","ASAH1","ATN1","ATP2B1","ATP6V1A","ATP7A","B3GALT6","B3GAT3","BANF1","BAZ1B","BCL7B","BCOR","BCR","BEST1","BGN","BICC1","BMPR2","BRAF","BRCA1","BRCA2","BRCC3","BRF1","BRIP1","BUB1","BUB1B","BUB3","BUD23","C12orf57","CARS1","CASZ1","CAT","CDH2","CDK8","CDON","CELA2A","CEP19","CEP57","CETP","CFAP53","CHD4","CHD7","CHRNG","CHST3","CIROP","CLIP2","COL1A1","COL1A2","COL3A1","COL4A1","COL5A1","COL5A2","COMT","COX7B","CPLANE1","CREBBP","CRELD1","CRKL","CSF2RA","CSF2RB","CTCF","CTSA","CYP1B1","CYP27A1","CYP7A1","DARS1","DCDC2","DDX3X","DDX6","DGCR2","DGCR6","DGCR8","DHCR7","DIS3L2","DISP1","DLK1","DLL1","DNAH1","DNAH9","DNAJB11","DNAJC30","DNMT3A","DOHH","DPH5","DYNC2LI1","DYRK1B","EFEMP1","EFEMP2","EGFR","EHMT1","EIF4H","ELN","EMILIN1","ENG","ENPP1","EP300","EPHX2","ERCC2","ERCC3","ERCC4","ERCC5","ERCC6","ERCC8","ERMARD","ESR1","ESS2","F12","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FARSB","FBLN5","FBN1","FBN2","FGF8","FGFR1","FGFR2","FIG4","FKBP14","FKBP6","FLI1","FLNA","FLNB","FLT4","FMR1","FOXE3","FOXF1","FOXH1","FUCA1","FZD4","GAA","GABRD","GALC","GANAB","GAS1","GATA1","GATA4","GATA5","GATA6","GBA1","GDF1","GEMIN4","GGCX","GHR","GJA1","GJA5","GJA8","GLB1","GLI2","GLI3","GM2A","GNA11","GNB2","GP1BB","GPIHBP1","GTF2I","GTF2IRD1","GTF2IRD2","GUCY1A1","HCCS","HDAC4","HEATR3","HES7","HEXA","HEXB","HEY2","HGD","HIRA","HLA-B","HLA-DRB1","HNRNPK","HOXA1","HRAS","HSPG2","HTRA1","HYOU1","IDS","IFIH1","IFNG","IFT140","IGFBP7","IL12B","IPO8","JAG1","JAK2","JMJD1C","KANSL1","KCNAB2","KCNH1","KCNQ2","KCNT1","KDM6A","KMT2D","KNSTRN","KRAS","LARS2","LCAT","LDLR","LDLRAP1","LIMK1","LIPA","LIPC","LMNA","LMX1B","LOX","LPL","LRP5","LRP6","LRPPRC","LSM11","LTBP1","LUZP1","LZTR1","MAD2L2","MAP1B","MAP2K1","MAP3K7","MAPK1","MAT2A","MAX","MCTP2","MED12","MEF2A","MEG3","MEIS2","METTL27","MFAP5","MID1","MKS1","MLX","MLXIPL","MMP14","MMP2","MMP21","MMP23B","MPL","MT-ATP6","MT-CO3","MT-CYB","MT-ND1","MT-ND2","MT-ND4","MT-ND4L","MT-ND5","MT-ND6","MYCN","MYH11","MYH3","MYH7","MYLK","MYOC","MYPN","MYRF","NADSYN1","NAE1","NCF1","NDE1","NDP","NDUFB11","NEDD4L","NEK1","NEK9","NEU1","NF1","NFIA","NIPA1","NIPA2","NKAP","NKX2-5","NKX2-6","NOD2","NODAL","NOTCH1","NOTCH3","NPC1","NPC2","NPR3","NR2F2","NRAS","NSD1","NSMCE2","NT5E","NXN","OSGEP","P4HA2","PAH","PALB2","PCGF2","PCNT","PCSK9","PDE11A","PDGFB","PDGFRB","PDPN","PGM1","PGM3","PIGA","PIGN","PIK3CD","PIK3CG","PIK3R2","PKD1","PKD1L1","PKD2","PLCB1","PLD1","PLOD1","PLOD3","PLXND1","PNPLA2","POU3F4","PPARG","PPFIBP1","PPP1CB","PPP1R17","PPP2R1A","PRDM16","PRKAR1A","PRKCSH","PRKCZ","PRKG1","PRPF3","PSAP","PTCH1","PTEN","PTH1R","PTPN11","PTPN22","PUF60","RAD51","RAD51C","RAI1","RBM8A","RERE","RET","RFC2","RFWD3","RIN2","RNASEH2A","RNASEH2B","RNASEH2C","RNF213","RNU4ATAC","RNU7-1","ROBO4","ROR2","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS7","RREB1","RTL1","SAMHD1","SC5D","SCN1A","SCN2A","SDHB","SDHD","SEC24C","SELENOI","SEMA3E","SERPIND1","SETD2","SF3B2","SHH","SIX3","SKI","SLC12A5","SLC20A2","SLC25A22","SLC25A24","SLC2A10","SLC34A2","SLX4","SMAD2","SMAD3","SMAD4","SMAD6","SMARCA2","SMARCAL1","SMG9","SMPD1","SON","SOS2","SPECC1L","SPEN","SPTBN1","SRCAP","SRY","STAG2","STAT1","STIL","STRA6","STX1A","SUCLG1","SUPT16H","TAB2","TALDO1","TBC1D24","TBL2","TBX1","TBX20","TBX5","TDGF1","TELO2","TGDS","TGFB2","TGFB3","TGFBR1","TGFBR2","TGFBR3","TGIF1","THPO","THSD1","THSD4","TKT","TMEM127","TMEM231","TMEM260","TMEM270","TMEM67","TMTC3","TNNT2","TNXB","TOM1","TONSL","TPM2","TPM3","TRAF7","TREX1","TRIP13","TRRAP","TSC1","TSC2","TSR2","TTC26","TUBG1","TULP1","UBA1","UBE2T","UBE3B","UBE4B","UFD1","UNC45B","VAC14","VHL","VPS37D","WAC","WDPCP","WDR26","WRN","WT1","XRCC2","XYLT1","XYLT2","YME1L1","YY1","YY1AP1","ZEB2","ZIC2","ZIC3","ZMPSTE24","ZNF148","ZNF687"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_MORPHOLOGY_OF_THE_MUSCULATURE_OF_THE_NECK":{"collection":"C5:HPO","systematicName":"M37732","pmid":"","exactSource":"HP:0011006","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011006","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MORPHOLOGY_OF_THE_MUSCULATURE_OF_THE_NECK","geneSymbols":["ACTA1","ALG9","ALS2","ANO3","ATP13A2","ATP1A3","B3GALT6","CACNA1A","CDK10","CEP85L","CIZ1","CNP","COL12A1","COL25A1","COL6A1","COL6A2","COL6A3","COLEC11","COX20","CP","DDC","DRD2","FLI1","FOXP2","FUS","GCH1","GDAP2","GDF3","GDF6","GNAL","GRIK2","HK1","HPCA","IMPDH2","ITGA7","KCNC3","KCNN2","KCTD17","KIF1C","KIF21A","KMT2B","MAPT","MEOX1","MYF5","NAA10","NAXE","NEK9","NKX6-2","NR4A2","PCGF2","PHOX2A","PNKD","PPP2R5D","PRDX3","PRKAR1B","PRKRA","PRRT2","RNF170","ROBO3","SCP2","SGCE","SIGMAR1","SOX10","SPG11","SPTBN1","SPTLC1","SUPT16H","SYNGAP1","TBP","TGFB2","TGM6","THAP1","TMEM151A","TOR1A","TRPM3","TRPV4","TUBA1A","TUBB2B","TUBB3","TUBB4A","VPS11","VPS13D","VPS16","ZNF142"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_TEMPORAL_PATTERN":{"collection":"C5:HPO","systematicName":"M37733","pmid":"","exactSource":"HP:0011008","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011008","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TEMPORAL_PATTERN","geneSymbols":["ADH1C","ADORA2A","ATL1","ATXN2","ATXN8OS","BCKDHA","BCKDHB","CACNA1A","DBT","EIF4G1","GBA1","GLUD2","MAPT","MPZ","MT-TT","NIPA1","NR4A2","OPA1","PMP22","PTH","SMC1A","SNCA","SNCAIP","SPAST","TBP","WASHC5"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CIRCULATING_CARBOHYDRATE_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M37734","pmid":"","exactSource":"HP:0011013","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011013","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_CARBOHYDRATE_CONCENTRATION","geneSymbols":["ACAT2","AIFM1","BCS1L","COX10","COX16","COX6A2","DCXR","DLD","FOXRED1","GALE","GALK1","GALM","GALT","GK","HNF1A","IL6","ITPR3","KARS1","LDHA","LIPT2","LONP1","MECP2","MPC1","MT-ND1","MT-ND2","MT-ND3","MT-TF","MT-TI","MT-TK","MT-TL1","MT-TP","NDUFA1","NDUFA11","NDUFA6","NDUFAF1","NDUFAF2","NDUFAF3","NDUFAF4","NDUFAF5","NDUFAF8","NDUFB10","NDUFB11","NDUFB3","NDUFB9","NDUFS1","NDUFS2","NDUFS3","NDUFS4","NDUFS6","NDUFS7","NDUFS8","NDUFV1","NDUFV2","NUBPL","PC","PDHA1","PDHX","PITRM1","PNPLA8","POLG","PTPN22","RPIA","SCO2","SDHB","SKIC3","SLC25A13","SLC25A26","SLC2A2","SORD","TIMMDC1","TKT","TMEM126B","TWNK","UQCRC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_GLUCOSE_HOMEOSTASIS":{"collection":"C5:HPO","systematicName":"M37735","pmid":"","exactSource":"HP:0011014","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011014","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_GLUCOSE_HOMEOSTASIS","geneSymbols":["ABCA4","ABCB4","ABCC8","ACAD8","ACAD9","ACADM","ACADS","ACADSB","ACADVL","ACAT1","ACSF3","ACSL5","ADA2","ADAR","ADCY3","AEBP1","AFF4","AGBL5","AGL","AGPAT2","AHI1","AHR","AIP","AIRE","AKT2","ALAS2","ALDH7A1","ALDOB","ALG12","ALMS1","AMACR","APC2","APOA5","APOE","APPL1","AR","ARHGEF18","ARL2BP","ARL3","ARL6","ARMC5","ARNT2","ASXL2","ATIC","ATM","ATP5F1D","ATP7A","ATRX","AUH","BAZ1B","BBS1","BBS2","BBS9","BCKDHA","BCKDHB","BCL7B","BCS1L","BEST1","BLK","BLM","BMP2","BMP6","BRAF","BRCA1","BRCA2","BSCL2","BUD23","CA4","CA5A","CACNA1C","CACNA1S","CAMKMT","CARS1","CASR","CAT","CAV1","CAVIN1","CC2D2A","CCDC28B","CDH23","CDHR1","CDKN1B","CDKN1C","CDKN2A","CDON","CEL","CELA2A","CEP19","CERKL","CFAP418","CFTR","CIC","CIDEC","CISD2","CLCNKB","CLIP2","CLPB","CLRN1","CNBP","CNGA1","CNGB1","CNOT1","COG7","COG8","COL2A1","CORIN","COX10","COX11","COX16","CP","CPA1","CPE","CPT1A","CPT2","CRB1","CRX","CTC1","CTDP1","CTLA4","CTNNB1","CTNS","CTRC","CYB561","CYC1","CYP11A1","CYP19A1","CYP21A2","DBH","DBT","DCAF17","DGUOK","DHDDS","DHX38","DIS3L2","DISP1","DKC1","DLD","DLK1","DLL1","DMXL2","DNAJC19","DNAJC21","DNAJC3","DNAJC30","DNASE2","DNM1L","DNMT1","DOLK","DUT","DYRK1B","EBP","EDA","EDA2R","EFL1","EHHADH","EIF2AK3","EIF2S3","EIF4H","ELMO2","ELN","ENPP1","ERCC6","ESR1","ETFA","ETFB","ETFDH","EYS","FAH","FAM161A","FARSB","FBN1","FBP1","FCGR3B","FGF20","FGF8","FGFR1","FKBP6","FLT1","FMR1","FOCAD","FOS","FOXA2","FOXC2","FOXH1","FOXP1","FOXP3","FOXRED1","FSCN2","FUT8","FUZ","FXN","G6PC1","GABRA3","GALK1","GALT","GAS1","GATA3","GATA6","GATB","GATC","GATM","GCDH","GCGR","GCK","GFM2","GFRA1","GH1","GHR","GHSR","GJA1","GJB3","GJB4","GK","GLI2","GLI3","GLIS3","GLRX5","GLUD1","GLYCTK","GNAS","GOSR2","GPC3","GPC4","GPD2","GPR101","GPR161","GPR35","GRB10","GREB1L","GTF2I","GTF2IRD1","GTF2IRD2","GUCA1B","GYG1","GYS2","H19","HADH","HADHA","HADHB","HAMP","HBB","HERC1","HERC2","HESX1","HFE","HGSNAT","HJV","HLA-DQA1","HLA-DQB1","HLA-DRB1","HMGA1","HMGA2","HMGCL","HMGCS2","HNF1A","HNF1B","HNF4A","HRAS","HSD11B1","HSD17B10","HSD3B2","HTRA2","HYMAI","HYOU1","IARS1","IARS2","IDH3A","IDH3B","IER3IP1","IFIH1","IFT140","IFT172","IFT88","IGF1","IGF1R","IGF2","IGF2BP2","IGFALS","IGHG2","IGKC","IL18BP","IL2RA","IL6","IMPDH1","IMPG1","IMPG2","INS","INSR","IRF4","IRS1","IRS2","ITCH","ITGA8","ITPR3","KCNE3","KCNJ11","KCNJ18","KCNQ1","KCNQ1OT1","KCTD1","KDM6A","KDSR","KHK","KIAA1549","KIZ","KLF11","KLHL7","KRAS","LEMD2","LEMD3","LEP","LEPR","LHX1","LHX3","LHX4","LIG4","LIMK1","LIPC","LIPE","LMF1","LMNA","LMNB2","LRAT","LRBA","LRP6","LRPPRC","LSM11","MADD","MAFA","MAGEL2","MAK","MAPK8IP1","MC2R","MC4R","MCCC1","MCCC2","MEF2A","MEG3","MEN1","MERTK","METTL27","MFN2","MIA3","MICOS13","MICU1","MKKS","MKRN3","MLXIPL","MLYCD","MMACHC","MMP14","MMP2","MMUT","MOG","MPC1","MPI","MPV17","MRAP","MRPS2","MRPS28","MRPS7","MSL3","MST1","MT-ATP6","MT-CO1","MT-CO2","MT-CO3","MT-CYB","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND5","MT-ND6","MT-TC","MT-TE","MT-TF","MT-TH","MT-TK","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TV","MT-TW","MTHFR","MTNR1B","MTO1","MTOR","MTX2","NAA10","NAB2","NAF1","NARS2","NBAS","NCF1","NDN","NDP","NDUFA1","NDUFA11","NDUFA6","NDUFAF1","NDUFAF2","NDUFAF3","NDUFAF4","NDUFAF5","NDUFAF6","NDUFAF8","NDUFB10","NDUFB11","NDUFB3","NDUFB9","NDUFS1","NDUFS2","NDUFS3","NDUFS4","NDUFS6","NDUFS7","NDUFS8","NDUFV1","NDUFV2","NEK2","NEUROD1","NEUROG3","NFKB2","NFS1","NHP2","NKX2-5","NNT","NODAL","NOP10","NOTCH3","NPAP1","NPM1","NR1H4","NR2E3","NR3C1","NRL","NSD1","NSMCE2","NUAK2","NUBPL","OCA2","ODC1","OFD1","OPA1","OTC","OTX2","PAK1","PALB2","PALLD","PAPPA2","PARN","PAX4","PAX6","PC","PCARE","PCBD1","PCCA","PCCB","PCK1","PCK2","PCNT","PCSK1","PDE4D","PDE6A","PDE6B","PDE6G","PDX1","PET100","PEX1","PEX10","PEX6","PGM1","PHKA1","PHKA2","PHKB","PHKG2","PI4KA","PIK3R1","PLAG1","PLAGL1","PLCD1","PLIN1","PLPBP","PMM2","PNPLA2","PNPLA6","PNPO","POC1A","POGZ","POLA1","POLD1","POLG","POLG2","POLR3A","POMC","POMGNT1","POR","POU1F1","PPARG","PPM1B","PPP1R15B","PPP1R3A","PPP2R5D","PRCD","PREPL","PRKACA","PRKAG2","PRKAR1A","PROK2","PROKR2","PROM1","PROP1","PRORP","PRPF3","PRPF31","PRPF4","PRPF6","PRPF8","PRPH2","PRSS1","PRSS2","PSMB8","PSTPIP1","PTCH1","PTEN","PTF1A","PTPN1","PTPN22","PTRH2","PWAR1","PWRN1","PYGL","QRSL1","RABL3","RAC1","RBP3","RDH12","REEP6","RET","RETN","RFC2","RFX6","RGR","RHO","RIMS2","RLBP1","RNASEH2A","RNASEH2B","RNASEH2C","RNF125","RNU7-1","ROBO1","ROM1","RP1","RP1L1","RP2","RP9","RPE65","RPGR","RRM2B","RTEL1","RTL1","SAG","SAMD9","SAMHD1","SARS2","SBDS","SCAPER","SCN4A","SCO1","SECISBP2","SEMA4A","SEMA4D","SERAC1","SETD2","SGPL1","SH2B1","SHH","SHPK","SIM1","SIN3A","SIX3","SLC12A3","SLC16A1","SLC19A2","SLC1A1","SLC22A5","SLC25A20","SLC25A36","SLC25A4","SLC29A3","SLC2A2","SLC30A8","SLC34A1","SLC37A4","SLC3A1","SLC40A1","SLC52A1","SLC5A1","SLC5A2","SLC7A14","SMAD4","SMC5","SMPD4","SNIP1","SNORD115-1","SNORD116-1","SNRNP200","SNRPN","SOX2","SOX3","SPATA7","SPI1","SPINK1","SRP54","STAR","STAT1","STAT3","STAT6","STOX1","STUB1","STX1A","SUCLG1","SUFU","TANGO2","TBL2","TBX19","TCF4","TCF7L2","TDGF1","TERC","TERT","TFAM","TFE3","TFG","TGIF1","THRB","TIMMDC1","TINF2","TKT","TLR8","TMEM126B","TMEM270","TOM1","TOPORS","TP53","TREX1","TRMT10A","TRMT5","TRPM3","TTC7A","TTC8","TTPA","TUB","TULP1","TWNK","TXNRD2","TYMS","UBR1","UCP2","UQCC3","UQCRB","UQCRC2","UQCRH","USB1","USH2A","USP48","USP8","VANGL1","VANGL2","VPS37D","WARS2","WDR11","WFS1","WNT9B","WRAP53","WRN","WT1","XRCC4","YARS1","YIPF5","YY1","ZBTB20","ZFP57","ZFYVE26","ZIC2","ZMPSTE24","ZNF408","ZNF513","ZNF668","ZNRF3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_BLOOD_GLUCOSE_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M37736","pmid":"","exactSource":"HP:0011015","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011015","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BLOOD_GLUCOSE_CONCENTRATION","geneSymbols":["ABCC8","ACAD8","ACAD9","ACADM","ACADS","ACADSB","ACADVL","ACAT1","ACSF3","ACSL5","AFF4","AGL","AKT2","ALDH7A1","ALDOB","ALG12","APC2","APPL1","ARMC5","ASXL2","ATIC","ATP5F1D","ATP7A","AUH","BBS9","BCKDHA","BCKDHB","BCS1L","BLK","BMP6","CA5A","CACNA1C","CACNA1S","CAMKMT","CDKN1C","CDON","CEL","CIC","CLPB","COG7","COG8","COX10","COX11","COX16","CPT1A","CPT2","CTDP1","CYB561","CYC1","CYP11A1","CYP21A2","DBH","DBT","DGUOK","DIS3L2","DLD","DMXL2","DNAJC19","DOLK","DYRK1B","EBP","EHHADH","EIF2S3","ENPP1","ETFA","ETFB","ETFDH","FAH","FARSB","FBP1","FGF20","FOXA2","FOXRED1","FUT8","G6PC1","GABRA3","GALK1","GALT","GATA6","GATB","GATC","GATM","GCDH","GCK","GFM2","GFRA1","GH1","GHR","GHSR","GJA1","GK","GLI2","GLI3","GLUD1","GLYCTK","GPC3","GPC4","GPR161","GRB10","GREB1L","GYS2","H19","HADH","HADHA","HADHB","HERC1","HESX1","HFE","HMGA2","HMGCL","HMGCS2","HNF1A","HNF4A","HRAS","HSD17B10","HSD3B2","HTRA2","HYMAI","HYOU1","IARS1","IARS2","IGF1","IGF2","IL6","INS","INSR","ITGA8","ITPR3","KCNE3","KCNJ11","KCNJ18","KCNQ1","KCNQ1OT1","KDM6A","KHK","KLF11","LHX3","LHX4","LMNA","LRPPRC","MADD","MC2R","MCCC1","MCCC2","MEN1","MICOS13","MLYCD","MMACHC","MMUT","MPC1","MPV17","MRAP","MRPS2","MRPS28","MRPS7","MSL3","MT-CYB","MT-ND1","MT-ND2","MT-ND3","MTO1","MTOR","NAB2","NARS2","NBAS","NDUFA1","NDUFA11","NDUFA6","NDUFAF1","NDUFAF2","NDUFAF3","NDUFAF4","NDUFAF5","NDUFAF6","NDUFAF8","NDUFB10","NDUFB11","NDUFB3","NDUFB9","NDUFS1","NDUFS2","NDUFS3","NDUFS4","NDUFS6","NDUFS7","NDUFS8","NDUFV1","NDUFV2","NEUROD1","NFKB2","NFS1","NNT","NR1H4","NR3C1","NSD1","NUBPL","ODC1","OTC","OTX2","PAK1","PAX4","PC","PCCA","PCCB","PCK1","PCK2","PCSK1","PDX1","PET100","PGM1","PHKA1","PHKA2","PHKB","PHKG2","PIK3R1","PLAG1","PLAGL1","PLPBP","PNPO","POGZ","POMC","POR","POU1F1","PPARG","PPM1B","PPP1R15B","PPP2R5D","PREPL","PRKAG2","PROKR2","PROP1","PRORP","PTEN","PTF1A","PTPN22","PYGL","QRSL1","RET","RFX6","RIMS2","RNF125","ROBO1","SAMD9","SCN4A","SCO1","SECISBP2","SERAC1","SETD2","SGPL1","SH2B1","SHPK","SLC16A1","SLC1A1","SLC22A5","SLC25A20","SLC25A36","SLC2A2","SLC34A1","SLC37A4","SLC3A1","SLC52A1","SLC5A2","SNIP1","SOX3","STAR","STAT3","STAT6","SUCLG1","TANGO2","TBX19","TFAM","TFE3","TFG","TIMMDC1","TMEM126B","TRMT10A","TRPM3","TXNRD2","UCP2","UQCC3","UQCRB","UQCRC2","UQCRH","WARS2","WDR11","WNT9B","YARS1","YY1","ZFP57","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_CIRCULATING_ENZYME_LEVEL":{"collection":"C5:HPO","systematicName":"M37737","pmid":"","exactSource":"HP:0011021","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011021","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_CIRCULATING_ENZYME_LEVEL","geneSymbols":["AASS","ABCC9","ABHD5","ACAD9","ACADM","ACADVL","ACTA1","ACTC1","ACTN2","ADK","ADSS1","AGL","AGXT","AHCY","AIFM1","ALDOA","ALG14","ALG2","AMACR","AMPD1","AMPD3","ANKRD1","ANO5","ANXA11","AP5Z1","APTX","AR","ASAH1","ATP5F1D","B3GALNT2","B4GALT1","B4GAT1","BAG3","BAG5","BAZ1B","BCL7B","BICD2","BIN1","BUD23","BVES","C19orf12","C1QBP","CA2","CACNA1S","CAP2","CAPN3","CASQ1","CAV3","CAVIN1","CCDC115","CCDC78","CFL2","CHCHD10","CHKB","CLIP2","CNBP","CNTN1","COA7","COG6","COG7","COG8","COL12A1","COL25A1","COL4A1","COL6A1","COL6A2","COL6A3","COL9A3","COQ2","COX16","COX20","CPT1A","CPT2","CRPPA","CRYAB","CSRP3","DAG1","DCXR","DES","DGUOK","DHX16","DMD","DMGDH","DNA2","DNAJB4","DNAJB6","DNAJC30","DNM2","DNMT3B","DOK7","DOLK","DPAGT1","DPM1","DPM2","DPM3","DSG2","DSP","DUX4","DUX4L1","DYSF","EIF4H","ELN","EMD","ENO3","EPG5","ERGIC1","FAM111B","FDX2","FHL1","FHL2","FKBP14","FKBP6","FKRP","FKTN","FLAD1","FLNC","FRG1","GAA","GABRA3","GATAD1","GATB","GATC","GBE1","GFPT1","GGPS1","GIPC1","GMPPB","GNE","GOLGA2","GOSR2","GTF2I","GTF2IRD1","GTF2IRD2","GYG1","HACD1","HADH","HADHA","HADHB","HAND2","HEXB","HHAT","HINT1","HNRNPA1","HNRNPA2B1","HNRNPDL","HSPG2","INF2","INPP5K","ISCA1","ISCU","ITGA7","ITGB4","JAG2","JPH2","KBTBD13","KCNA1","KCNE3","KCNJ18","KLHL41","KLHL9","KY","LAMA1","LAMA2","LAMA4","LAMP2","LARGE1","LDB3","LDHA","LIMK1","LIMS2","LIPE","LMNA","LMOD2","LMOD3","LPIN1","LRP12","LTBP4","LYRM7","MATR3","MB","MEGF10","METTL27","MGME1","MICU1","MIEF2","MLIP","MLXIPL","MPDU1","MPV17","MPZ","MSTO1","MT-CO1","MT-CO3","MT-TE","MT-TL1","MT-TL2","MT-TN","MT-TS1","MTMR14","MVK","MYBPC3","MYF6","MYH14","MYH6","MYH7","MYL1","MYL2","MYMK","MYOT","MYPN","NARS2","NCF1","NEB","NEFH","NEFL","NEXN","NFS1","NOTCH2NLC","NSUN2","OBSCN","OCRL","ORAI1","OTUD5","PABPN1","PDK3","PET100","PEX6","PFKM","PGAM2","PGM1","PHKA1","PHKA2","PHKB","PHKG2","PIEZO2","PIGY","PIK3R5","PITRM1","PLA2G6","PLEC","PLEKHG5","PLIN4","PLN","PLXNA1","PNPLA2","POGLUT1","POLG","POLG2","POLRMT","POMGNT1","POMGNT2","POMK","POMT1","POMT2","POPDC3","PPCS","PRDM16","PRUNE1","PSEN1","PSEN2","PYGM","PYROXD1","QRICH1","QRSL1","RAF1","RBCK1","RBM20","RFC2","RILPL1","RNASEH1","RPL3L","RRM2B","RXYLT1","RYR1","SCN4A","SCN5A","SCO2","SCYL2","SDHA","SETX","SGCA","SGCB","SGCD","SGCG","SIL1","SLC12A6","SLC16A1","SLC22A5","SLC25A20","SLC25A4","SLC25A42","SLC30A9","SLC39A14","SMCHD1","SPEG","SPTBN4","SQOR","SQSTM1","STIM1","STX1A","SUCLA2","SUGCT","SUOX","SVIL","SYNE1","SYNE2","SYNJ1","TAF1A","TAFAZZIN","TANGO2","TBCD","TBL2","TCAP","TFG","TIA1","TIMM22","TK2","TMEM165","TMEM270","TMEM43","TMPO","TMTC3","TNNC1","TNNI3","TNNT1","TNNT2","TOP3A","TOR1AIP1","TPM1","TPM2","TPM3","TRAPPC11","TRAPPC2L","TRIM32","TRIP4","TRMU","TRPV4","TSFM","TTN","TWNK","TXNRD2","UBA1","UQCRFS1","USB1","VAC14","VAPB","VCL","VCP","VEZF1","VMA21","VPS13A","VPS37D","XK","YME1L1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CARDIOVASCULAR_SYSTEM_PHYSIOLOGY":{"collection":"C5:HPO","systematicName":"M47172","pmid":"","exactSource":"HP:0011025","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011025","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CARDIOVASCULAR_SYSTEM_PHYSIOLOGY","geneSymbols":["AAAS","AARS2","ABCA1","ABCA12","ABCA3","ABCB4","ABCB6","ABCC6","ABCC8","ABCC9","ABCD3","ABCD4","ABCG5","ABCG8","ACAD8","ACAD9","ACADM","ACADVL","ACAT1","ACE","ACP5","ACTA1","ACTA2","ACTB","ACTC1","ACTG1","ACTG2","ACTN2","ACTN4","ACVRL1","ACY1","ADA","ADA2","ADAMTS10","ADAMTS13","ADAMTS19","ADAMTSL2","ADAMTSL4","ADAR","ADCY5","ADD1","ADK","ADNP","AFF4","AGA","AGGF1","AGK","AGO2","AGPAT2","AGR2","AGT","AGTR1","AGXT","AIP","AKAP9","AKT1","AKT3","ALB","ALDH18A1","ALDH1A2","ALDOA","ALDOB","ALG10B","ALG5","ALG9","ALMS1","ALPK3","ALPL","ALX4","AMACR","AMER1","AMN","ANGPTL6","ANK2","ANKRD11","ANKS6","AP1S3","APC","APOA1","APOB","APOE","APP","APRT","AQP2","ARF1","ARFGEF2","ARHGAP31","ARL6","ARMC5","ARPC1B","ARPC4","ARSA","ARSB","ARSK","ARVCF","ASXL1","ATOH7","ATP11A","ATP13A3","ATP1A2","ATP1A3","ATP1B1","ATP5F1A","ATP5F1D","ATP5F1E","ATP5MK","ATP6AP1","ATP6V0A2","ATP6V1A","ATP6V1E1","ATP7A","ATPAF1","ATPAF2","ATRX","ATXN7","AVPR2","B2M","B3GALT6","B3GLCT","B4GALT7","BAG3","BAG5","BANF1","BANK1","BAP1","BAZ1B","BBIP1","BBS1","BBS10","BBS12","BBS2","BBS4","BBS5","BBS7","BBS9","BCHE","BCL7B","BCOR","BCR","BEST1","BICC1","BICD2","BICRA","BLK","BMP2","BMP6","BMPR1A","BMPR2","BNC2","BPTF","BRAF","BRAT1","BRCA2","BRCC3","BRF1","BSCL2","BSND","BTNL2","BUB1","BUB1B","BUB3","BUD23","BVES","C12orf57","C1QBP","C3","C4A","C4B","CA2","CACNA1A","CACNA1C","CACNA1D","CACNA1H","CACNA1S","CACNA2D1","CACNB2","CALM1","CALM2","CALM3","CALR","CAPN5","CASP10","CASQ2","CASR","CAV1","CAV3","CAVIN1","CBL","CBS","CC2D2A","CCDC22","CCDC28B","CCDC32","CCM2","CCN2","CCND1","CCND2","CCNQ","CCR1","CCR6","CD109","CD2AP","CD46","CD55","CDC42","CDC45","CDC73","CDH2","CDH23","CDKN1A","CDKN1B","CDKN2A","CDKN2B","CDKN2C","CDON","CELA2A","CEP164","CEP19","CEP290","CEP57","CEP83","CFAP418","CFB","CFH","CFHR1","CFHR3","CFI","CFTR","CHCHD2","CHD3","CHD7","CHRNA3","CHST14","CHST3","CIC","CIDEC","CIROP","CISD2","CITED2","CIZ1","CLCF1","CLCN2","CLCN7","CLCNKA","CLCNKB","CLDN1","CLIC2","CLIP2","CLN3","CLPB","CNBP","COA6","COG1","COG7","COL1A1","COL1A2","COL3A1","COL4A1","COL4A2","COL4A3","COL4A4","COL4A5","COL5A1","COL5A2","COLGALT1","COLQ","COMT","COPA","COQ2","COQ4","COQ7","COQ9","CORIN","COX16","COX5A","COX6B1","COX7B","COX8A","CP","CPOX","CPT1A","CPT2","CR2","CREBBP","CRKL","CRLF1","CRLS1","CRYAB","CSF2RA","CSF2RB","CSGALNACT1","CSRP3","CST3","CTC1","CTCF","CTLA4","CTNNA3","CTNNB1","CTNS","CTSH","CUBN","CUL3","CWC27","CYB561","CYP11A1","CYP11B1","CYP11B2","CYP17A1","CYP21A2","CYP26C1","CYP27A1","CYP3A5","CYP7B1","CYSLTR2","D2HGDH","DAXX","DBH","DCAF17","DCDC2","DCHS1","DCTN1","DDC","DDX3X","DDX6","DEF6","DES","DGUOK","DHCR7","DHPS","DIS3L2","DISP1","DLD","DLK1","DLL1","DLL4","DLST","DMD","DMPK","DNAJB11","DNAJC13","DNAJC19","DNAJC30","DNAL1","DNASE1","DNM2","DNMT3A","DOCK6","DOCK7","DOCK8","DOHH","DOLK","DPAGT1","DPH1","DPH2","DPP6","DPP9","DPYSL5","DSC2","DSC3","DSE","DSG1","DSG2","DSP","DST","DTNA","DUOX2","DUOXA2","DVL1","DVL3","DYRK1A","DYRK1B","DYSF","DZIP1","DZIP1L","EBP","ECE1","ECHS1","EDA","EDA2R","EFEMP1","EFEMP2","EGFR","EHMT1","EIF2AK4","EIF4G1","EIF4H","ELAC2","ELN","ELP1","EMD","ENG","ENPP1","EOGT","EP300","EPAS1","EPCAM","EPG5","EPHB4","EPOR","ERAP1","ERCC4","ERCC6","ERCC8","ERMARD","ETS1","EXOSC2","EXOSC5","EXT2","EYA4","F10","F11","F13A1","F13B","F2","F5","F7","F8","F9","FAH","FAM13A","FAN1","FAR1","FARSB","FAS","FAT4","FBLN5","FBN1","FBN2","FBP1","FBXL4","FBXW11","FCGR2B","FCGR2C","FCGR3B","FGA","FGB","FGD1","FGF8","FGFR1","FGFR2","FGFR3","FGG","FH","FHL1","FHOD3","FIG4","FIP1L1","FKBP14","FKBP6","FKRP","FKTN","FLAD1","FLI1","FLNA","FLNC","FLT1","FLT4","FMO3","FMR1","FN1","FNIP1","FOCAD","FOS","FOXA2","FOXC2","FOXE3","FOXF1","FOXH1","FOXP1","FSHR","FUZ","FXN","FZD4","G6PC1","G6PC3","GAA","GABRA3","GALC","GANAB","GAS1","GATA2","GATA4","GATA5","GATA6","GATAD1","GBA1","GBE1","GCDH","GCGR","GCH1","GCK","GDAP1","GDF1","GDF2","GEMIN4","GET3","GFI1B","GFM2","GGCX","GIGYF2","GIMAP5","GJA1","GJA5","GJA8","GLA","GLB1","GLI2","GLIS3","GLUL","GLYCTK","GMPPA","GMPPB","GNA11","GNAI2","GNAQ","GNAS","GNB2","GNB3","GNB5","GNPTAB","GNPTG","GNS","GP1BA","GP1BB","GP9","GPC3","GPC4","GPD1L","GPR101","GPR35","GPX4","GREM1","GRIN1","GSN","GTF2I","GTF2IRD1","GTF2IRD2","GTPBP3","GUCY1A1","GYG1","H19","H4C3","HAAO","HABP2","HADH","HADHA","HADHB","HAMP","HBA1","HBA2","HBB","HCCS","HCN4","HCRT","HDAC4","HEATR3","HELLPAR","HEPHL1","HESX1","HEXB","HEY2","HFE","HGD","HIRA","HIVEP2","HJV","HLA-B","HLA-DPA1","HLA-DPB1","HLA-DQB1","HLA-DRB1","HMBS","HMCN1","HMGCL","HMOX1","HNF1A","HNF4A","HNRNPA1","HNRNPA2B1","HNRNPK","HPGD","HPS1","HPSE2","HRAS","HSD11B2","HSD3B2","HSD3B7","HSPG2","HTRA1","HTRA2","IDS","IDUA","IFIH1","IFNG","IFNGR1","IFT140","IFT172","IFT27","IFT74","IGFBP7","IGHG1","IKBKG","IKZF1","IL10","IL10RA","IL12A","IL12A-AS1","IL12B","IL12RB1","IL23R","IL36RN","IL6ST","IMPDH2","INF2","INPP5E","INS","INVS","IPO8","IQCB1","IRAK1","IRF2BP2","IRF4","IRF5","IRX5","ISCU","ITCH","ITGA2","ITGA2B","ITGA8","ITGAM","ITGB3","IVD","IYD","JAG2","JAK2","JAZF1","JMJD1C","JPH2","JUP","KANSL1","KAT6A","KCNA5","KCND3","KCNE1","KCNE2","KCNE3","KCNE5","KCNH1","KCNH2","KCNJ1","KCNJ10","KCNJ11","KCNJ18","KCNJ2","KCNJ3","KCNJ5","KCNJ8","KCNK3","KCNN4","KCNQ1","KCTD1","KDM6A","KIAA0319L","KIF12","KIF1B","KIF20A","KIF23","KIFBP","KIT","KLHL24","KLHL3","KLRC4","KMT2D","KRAS","KRIT1","KRT18","KYNU","LAMA2","LAMA3","LAMA4","LAMB2","LAMB3","LAMC2","LAMP2","LARS2","LBR","LBX1","LCAT","LCK","LDB3","LDLR","LDLRAP1","LEMD2","LEMD3","LEP","LEPR","LHX3","LHX4","LIFR","LIMK1","LIMS2","LIPA","LIPC","LIPE","LIPT1","LMAN1","LMBRD1","LMNA","LMNB1","LMOD2","LMX1B","LOX","LPIN1","LPL","LRIG2","LRP1","LRP12","LRP4","LRP5","LRP6","LRPPRC","LRRK2","LSM11","LTBP1","LTBP2","LTBP3","LYZ","LZTFL1","LZTR1","MADD","MAFB","MAN2B1","MAP1B","MAP2K1","MAP2K2","MAP3K7","MAPK1","MAPRE2","MARS2","MAT2A","MAX","MBTPS2","MC2R","MC4R","MCFD2","MCTP2","MDH2","MDM2","MECP2","MED12","MED25","MEF2A","MEFV","MEG3","MEGF8","MEN1","METTL27","MFAP5","MGAT2","MGME1","MGP","MKKS","MKS1","MLH1","MLH3","MLX","MLXIPL","MMACHC","MMEL1","MMP14","MMP2","MMUT","MOG","MPI","MPL","MRAP","MRAS","MRPL12","MRPS14","MSH2","MSH6","MST1","MT-ATP6","MT-ATP8","MT-CO1","MT-CO2","MT-CO3","MT-CYB","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND4L","MT-ND5","MT-ND6","MT-TC","MT-TE","MT-TF","MT-TH","MT-TK","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TV","MT-TW","MTFMT","MTHFR","MTO1","MTRR","MTTP","MTX2","MUC1","MUC5B","MVK","MYBPC3","MYC","MYCN","MYD88","MYH11","MYH6","MYH7","MYH9","MYL2","MYL3","MYL4","MYLK","MYLK2","MYMK","MYMX","MYO1H","MYO5B","MYOZ2","MYPN","MYRF","MYSM1","NAA10","NABP1","NAF1","NAGA","NAGS","NAXD","NCAPG2","NCF1","NDE1","NDP","NDUFA2","NDUFA8","NDUFAF1","NDUFAF6","NDUFB10","NDUFB11","NDUFS2","NEDD4L","NEK1","NEK8","NEK9","NEU1","NEUROG3","NEXN","NF1","NF2","NFIA","NFIX","NFKB2","NFU1","NKAP","NKX2-1","NKX2-5","NKX2-6","NLRC4","NNT","NOD2","NODAL","NONO","NOS1AP","NOS3","NOTCH1","NOTCH2","NOTCH2NLC","NOTCH3","NPHP1","NPHP3","NPHP4","NPM1","NPPA","NR2F2","NR3C1","NR3C2","NR4A2","NRAS","NRXN1","NSMCE2","NT5E","NTRK1","NUMA1","NUP155","OBSCN","ODAD1","OFD1","OPA1","OSGEP","OTUD5","OTX2","P2RY11","P4HA2","PAM16","PARN","PAX2","PAX8","PBX1","PCCA","PCCB","PCGF2","PCSK9","PDCD1","PDCD10","PDE11A","PDE3A","PDE4D","PDGFB","PDGFRA","PDSS1","PDX1","PET100","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PEX7","PGAP1","PGM1","PHF21A","PHOX2B","PHYH","PIEZO1","PIGA","PIGM","PIGN","PIGU","PIK3C2A","PIK3CA","PIK3R2","PITX2","PKD1","PKD2","PKHD1","PKP2","PLAU","PLCG2","PLCH1","PLD1","PLEC","PLIN1","PLN","PLOD1","PLOD3","PLP1","PLVAP","PLXND1","PML","PMM2","PMS1","PMS2","PNPLA2","POLG","POLG2","POLR3A","POMT1","POMT2","POR","POT1","POU1F1","POU2AF1","POU3F4","POU6F2","PPA2","PPARG","PPCS","PPOX","PPP1CB","PRDM16","PRDM5","PRF1","PRG4","PRIM1","PRKACA","PRKAG2","PRKAR1A","PRKCSH","PRKG1","PRKG2","PROC","PROP1","PRORP","PROS1","PRTN3","PSAP","PSEN1","PSEN2","PSMB8","PSMD12","PTCH1","PTEN","PTGIS","PTPN11","PTPN22","PUF60","PXK","PYGM","PYROXD1","RAB23","RAB3GAP2","RACGAP1","RAD21","RAF1","RANBP2","RANGRF","RARA","RASA1","RASA2","RB1","RBBP8","RBCK1","RBM10","RBM20","RBPJ","REN","REST","RET","RFC2","RGS5","RHAG","RHBDF2","RHCE","RHD","RIGI","RIT1","RMRP","RNASEH1","RNASEH2A","RNASEH2B","RNASEH2C","RNF125","RNF135","RNF168","RNF2","RNF213","RNU12","RNU4ATAC","RNU7-1","ROBO4","ROR2","RPGRIP1L","RPL27","RPL3L","RPL5","RPS19","RPS20","RPS6KA3","RRAGD","RRAS","RRAS2","RREB1","RRM2B","RS1","RSPRY1","RTEL1","RTL1","RUNX1","RYR1","RYR2","SAA1","SALL4","SAMD9","SAMHD1","SARDH","SARS2","SAT1","SBDS","SCAPER","SCARB2","SCLT1","SCN10A","SCN1B","SCN2B","SCN3B","SCN4A","SCN4B","SCN5A","SCN9A","SCNN1A","SCNN1B","SCNN1G","SCO1","SCO2","SCUBE3","SDCCAG8","SDHA","SDHAF1","SDHAF2","SDHB","SDHC","SDHD","SEC24C","SEC63","SELENON","SEMA3A","SEMA4A","SEMA4D","SERPINA6","SERPINC1","SERPINE1","SERPINF2","SERPING1","SF3B1","SFTPA1","SFTPA2","SFTPB","SFTPC","SGCA","SGCD","SGCG","SGO1","SH2B3","SHH","SHOC2","SHPK","SIM1","SIN3A","SIX3","SKI","SKIC2","SKIC3","SLC12A1","SLC12A3","SLC17A5","SLC19A2","SLC1A3","SLC22A5","SLC25A11","SLC25A13","SLC25A20","SLC25A24","SLC25A26","SLC25A3","SLC25A4","SLC29A3","SLC2A10","SLC30A10","SLC30A9","SLC31A1","SLC34A2","SLC35A1","SLC35A2","SLC37A4","SLC40A1","SLC4A1","SLC4A3","SLC5A5","SLC6A5","SLC6A6","SLC6A8","SLC7A7","SLCO2A1","SLMAP","SMAD2","SMAD3","SMAD4","SMAD6","SMAD9","SMARCA4","SMARCAL1","SMARCB1","SMARCE1","SMC1A","SMC3","SMC5","SMO","SNAP29","SNCA","SNIP1","SNORD118","SNTA1","SNX10","SON","SOS1","SOS2","SOX10","SOX3","SOX5","SP110","SPARC","SPECC1L","SPEG","SPG11","SPIB","SPP1","SPRED1","SPRED2","SPRY2","SPTBN1","SREBF1","SRSF2","SRY","STAG2","STAR","STAT1","STAT2","STAT3","STAT4","STAT5B","STIL","STIM1","STING1","STK11","STN1","STOX1","STRA6","STRADA","STT3A","STX16","STX1A","STX3","SUFU","SUGCT","SVIL","SYNE1","SYNE2","SYT2","SZT2","TAB2","TAF2","TAFAZZIN","TANGO2","TAOK1","TBCK","TBL1XR1","TBL2","TBX1","TBX19","TBX2","TBX20","TBX3","TBX4","TBX5","TCAP","TCF4","TCIRG1","TDGF1","TDP2","TECRL","TEK","TERC","TERT","TET2","TF","TFAM","TG","TGFB2","TGFB3","TGFBR1","TGFBR2","TGFBR3","TGIF1","THBD","THOC2","THOC6","THPO","THSD1","THSD4","TINF2","TJP2","TKFC","TLL1","TLR4","TLR7","TMEM126B","TMEM127","TMEM237","TMEM260","TMEM270","TMEM43","TMEM67","TMEM70","TMTC3","TNFAIP3","TNFRSF11A","TNFRSF11B","TNFRSF1A","TNFSF11","TNFSF15","TNFSF4","TNIP1","TNNC1","TNNC2","TNNI3","TNNI3K","TNNT2","TNPO3","TNXB","TOM1","TOP3A","TOR1A","TOR1AIP1","TP53","TPI1","TPM1","TPM2","TPM3","TPO","TRAF3IP1","TRAF7","TRDN","TREX1","TRIM28","TRIM32","TRIM37","TRIP13","TRIP4","TRPC6","TRPM4","TRRAP","TSC1","TSC2","TSHB","TSHR","TSPAN12","TSPYL1","TTC26","TTC7A","TTC8","TTN","TTPA","TTR","TUBB","TULP3","TWIST1","TWNK","TXNDC15","TXNRD2","UBAC2","UBE2A","UBE2L3","UBR1","UCP2","UFD1","UQCRFS1","USP18","USP48","USP8","VAC14","VANGL1","VCL","VCP","VEZF1","VHL","VPS33A","VPS35","VPS35L","VPS37D","VWF","WAC","WAS","WASHC5","WDPCP","WDR19","WDR35","WDR37","WFS1","WIPF1","WIPI2","WNK1","WNK4","WNT4","WNT5A","WRN","WT1","XK","XPNPEP2","XPNPEP3","XYLT1","XYLT2","YY1","YY1AP1","ZBTB16","ZEB2","ZFYVE19","ZIC2","ZIC3","ZMPSTE24","ZNF148","ZNF341","ZNF365","ZNF408","ZNF469","ZNF699","ZNFX1","ZNRF3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APLASIA_HYPOPLASIA_OF_THE_VAGINA":{"collection":"C5:HPO","systematicName":"M37739","pmid":"","exactSource":"HP:0011026","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011026","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_VAGINA","geneSymbols":["B3GLCT","CYB5A","CYP11B1","CYP17A1","DHX37","DMRT3","GATA3","GATA4","GLI3","IRF6","MAP3K1","NR0B1","NR5A1","PAX3","PPP2R1A","SOX9","SRY","VAMP7","WNT4","WT1","WWOX","ZFPM2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_FALLOPIAN_TUBE_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M37740","pmid":"","exactSource":"HP:0011027","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011027","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FALLOPIAN_TUBE_MORPHOLOGY","geneSymbols":["AR","BARD1","BRCA1","BRCA2","BRIP1","CHEK2","COX7B","DCAF17","DHH","FANCB","HCCS","HYLS1","KIF7","MRE11","NBN","NDUFB11","PALB2","PLG","PTEN","RAD50","RAD51","RAD51C","RAD51D","TP53","WNT3","WNT4","WT1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_BLOOD_CIRCULATION":{"collection":"C5:HPO","systematicName":"M37741","pmid":"","exactSource":"HP:0011028","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011028","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_BLOOD_CIRCULATION","geneSymbols":["ABCC6","ABCC8","ACAD9","ACTA1","ACTA2","ACTC1","ACVRL1","ADA2","AGGF1","AKT1","ALDOB","ALPL","AMACR","ANGPTL6","APC","APOE","APP","AQP2","ARHGAP31","ARPC1B","ARVCF","ASXL1","ATOH7","ATP6V0A2","ATP6V1A","ATP6V1E1","ATP7A","ATRX","AVPR2","BAP1","BCOR","BEST1","BICD2","BMPR1A","BRCC3","C4A","CACNA1D","CALR","CAPN5","CASP10","CBL","CBS","CCM2","CCR1","CD109","CD46","CDKN1A","CDKN1B","CDKN2B","CDKN2C","CFH","CFHR1","CFHR3","CFI","CISD2","CITED2","CLCN2","COL3A1","COL4A1","COL4A2","COMT","COPA","CPT2","CST3","CTC1","CTCF","CTLA4","CTNNB1","CTNS","CYP11A1","CYP11B1","CYP11B2","CYP26C1","CYP7B1","CYSLTR2","DAXX","DHPS","DLL4","DLST","DNM2","DNMT3A","DOCK6","DOCK8","DPAGT1","DST","DZIP1L","EFEMP1","EIF2AK4","ELN","ENG","ENPP1","EOGT","EPAS1","EPCAM","EPOR","ERAP1","ERCC6","ERCC8","EXT2","F10","F11","F13A1","F13B","F2","F5","F7","F8","F9","FAH","FAN1","FAS","FBN1","FCGR2C","FGA","FGB","FGG","FH","FIP1L1","FLNA","FN1","FOXE3","FOXF1","FSHR","FZD4","GAA","GATA2","GATA4","GATA6","GBA1","GCDH","GCK","GDF2","GFI1B","GGCX","GNA11","GNAQ","GP1BA","GP1BB","GP9","GREM1","HADHB","HELLPAR","HEY2","HIRA","HLA-B","HLA-DPA1","HLA-DPB1","HMCN1","HMOX1","HPGD","HPS1","HSD3B7","IFIH1","IFNG","IFNGR1","IKBKG","IKZF1","IL10","IL10RA","IL12A","IL12A-AS1","IL23R","INS","IPO8","IRF2BP2","IRF4","ITGA2","ITGA2B","ITGB3","IVD","JAK2","JMJD1C","KANSL1","KCNJ11","KCNJ5","KIF1B","KIF23","KIT","KLRC4","KRAS","KRIT1","LAMB2","LBR","LMAN1","LMBRD1","LMNA","LMOD2","LOX","LRP5","MARS2","MAT2A","MAX","MCFD2","MDH2","MED12","MEFV","MEN1","MFAP5","MLH1","MLH3","MMACHC","MMUT","MPI","MPL","MSH2","MSH6","MVK","MYC","MYD88","MYH11","MYH6","MYLK","MYO5B","NABP1","NDE1","NDP","NF1","NF2","NFIA","NKX2-5","NLRC4","NOTCH1","NOTCH3","NPM1","NUMA1","PCCA","PCCB","PDCD10","PDGFB","PDGFRA","PDX1","PET100","PIK3CA","PKHD1","PLAU","PLOD1","PLVAP","PML","PMM2","PMS1","PMS2","POT1","PRF1","PRKAR1A","PRKCSH","PRKG1","PROC","PROS1","PRTN3","PTEN","PTPN22","PUF60","RACGAP1","RANBP2","RARA","RASA1","RB1","RBCK1","RBM10","RBPJ","RET","RHBDF2","RNF168","RPS20","RREB1","RS1","RUNX1","SAMD9","SBDS","SDHA","SDHAF2","SDHB","SDHC","SDHD","SEC24C","SEC63","SEMA4A","SERPINE1","SERPINF2","SF3B1","SH2B3","SIN3A","SLC25A11","SLC25A13","SLC35A1","SLC7A7","SLCO2A1","SMAD2","SMAD3","SMAD4","SMARCB1","SMARCE1","SMC5","SMO","SNORD118","SP110","SPARC","SREBF1","SRSF2","STAT2","STAT3","STAT4","STAT5B","STIM1","STK11","STN1","STT3A","STX3","SUFU","TAOK1","TBL1XR1","TBX1","TBX20","TEK","TERC","TERT","TET2","TGFB2","TGFB3","TGFBR1","TGFBR2","TGFBR3","THOC6","THSD1","THSD4","TLL1","TLR4","TMEM127","TMEM237","TNFRSF1A","TNXB","TRAF7","TREX1","TSC1","TSC2","TSPAN12","TTC26","TTC7A","UBAC2","UFD1","USP18","VHL","VWF","WAS","WFS1","WIPF1","XYLT1","XYLT2","ZBTB16","ZEB2","ZMPSTE24","ZNF408","ZNFX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_BLOOD_TRANSITION_ELEMENT_CATION_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M37742","pmid":"","exactSource":"HP:0011030","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011030","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BLOOD_TRANSITION_ELEMENT_CATION_CONCENTRATION","geneSymbols":["ABCD3","ALAS2","AP1B1","AP1S1","ATP6AP1","ATP6V0A2","ATP7A","ATP7B","BCS1L","BMP2","BMP6","CARD9","COG2","COL7A1","CP","FOXP1","FTH1","FTL","HAMP","HBB","HFE","HJV","IARS1","KIF23","MMP1","PIGA","PKLR","RACGAP1","SCO2","SKIC2","SKIC3","SLC11A2","SLC25A38","SLC30A10","SLC30A2","SLC31A1","SLC33A1","SLC39A4","SLC39A8","SLC40A1","SLC7A7","SPATA5","STEAP3","TFR2","TMPRSS6","TRNT1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_IRON_HOMEOSTASIS":{"collection":"C5:HPO","systematicName":"M37743","pmid":"","exactSource":"HP:0011031","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011031","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_IRON_HOMEOSTASIS","geneSymbols":["ABCD3","ALAS2","BCS1L","BMP2","BMP6","CARD9","COL7A1","CP","FOXP1","FTH1","FTL","HAMP","HBB","HFE","HJV","KIF23","PIGA","PKLR","RACGAP1","SKIC2","SKIC3","SLC11A2","SLC25A38","SLC30A10","SLC40A1","STEAP3","TFR2","TRNT1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_FLUID_REGULATION":{"collection":"C5:HPO","systematicName":"M37744","pmid":"","exactSource":"HP:0011032","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011032","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_FLUID_REGULATION","geneSymbols":["ABCA12","ABCA3","ABCC6","ABCC8","ABCC9","ACAD8","ACAD9","ACADM","ACAT1","ACP5","ACSF3","ACTA1","ACTB","ACTC1","ACTG1","ACTN4","ADA","ADA2","ADAMTS2","ADAMTS3","ADARB1","AGBL1","AGGF1","AGR2","AGXT","AHCY","AIP","AK2","AKT1","ALB","ALG1","ALG12","ALG14","ALG8","ALG9","ALOX12B","ALOXE3","ALPK3","ANAPC1","ANGPT1","ANGPT2","ANKFY1","ANKH","ANKRD55","ANLN","ANTXR1","ANTXR2","AP1S3","APC2","APOA1","APOE","APOL1","AQP2","ARHGAP24","ARHGDIA","ARHGEF18","ARL3","ARSL","ASAH1","ASL","ASPRV1","ASS1","ATN1","ATP1A2","ATP1A3","ATP6V0A4","ATP7B","ATRX","AVPR2","B2M","B4GALT1","BAP1","BAZ1B","BCKDHA","BCKDHB","BCL2","BCL6","BCL7B","BLNK","BLTP1","BMP2","BMP6","BMPER","BMPR1A","BRAF","BRD4","BSND","BTNL2","BUB1","BUB1B","BUB3","BUD23","C1QBP","C4A","CA12","CACNA1A","CALCRL","CAMTA1","CARS2","CASP10","CAV1","CBL","CCBE1","CCDC88A","CCN6","CCND1","CCR1","CD244","CD247","CD28","CD2AP","CD46","CD55","CD79A","CD79B","CDAN1","CDC42","CDH11","CDH23","CDK5","CDKN1A","CDKN1B","CDKN2B","CDKN2C","CELSR1","CEP57","CFH","CFI","CFTR","CHD7","CHEK2","CHRNA1","CHRND","CHRNG","CIITA","CITED2","CLCNKA","CLCNKB","CLIP2","CLMP","CLPB","COG6","COL11A1","COL1A1","COL1A2","COL2A1","COL4A3","COL5A1","COL5A2","COL8A2","COQ8B","COX16","CPN1","CPS1","CPSF3","CPT2","CRB2","CRLS1","CSGALNACT1","CTLA4","CTNNB1","CTNS","CTRC","CTSA","CYBB","CYBC1","CYC1","CYP11A1","CYP11B2","CYP24A1","CYP4F22","CYP4V2","DAAM2","DBH","DBT","DCHS1","DCLRE1C","DDR2","DEF6","DHCR7","DHDDS","DHPS","DHX30","DIS3L2","DNAJC30","DNASE1L3","DNMT1","DNMT3B","DOHH","DOK7","DPAGT1","DSP","DUOX2","DUOXA2","DUX4","DUX4L1","DYNC2H1","DYNC2I1","DYNC2I2","DYSF","EBP","EGFR","EHHADH","EIF2AK3","EIF2AK4","EIF4H","ELN","EMP2","ENG","ENPP1","EPB41","EPCAM","EPHB4","ERAP1","ERBB3","ERCC5","ERCC6","F12","F8","FARSB","FAS","FASLG","FAT4","FCGR2A","FECH","FGA","FGB","FGFR3","FGG","FIBP","FIG4","FKBP6","FLNB","FLNC","FLT4","FN1","FOCAD","FOXC2","FOXF1","FOXG1","FRG1","FRMD4A","FSHR","FZD4","GAA","GAPVD1","GATA1","GATA2","GATA4","GATA6","GATB","GATC","GATM","GBA1","GBE1","GCK","GJC2","GLA","GLB1","GLE1","GNAQ","GNB2","GNPTAB","GPC6","GPR101","GPR35","GRHL2","GRIP1","GSN","GTF2I","GTF2IRD1","GTF2IRD2","GUSB","GYPC","HADHA","HAVCR2","HBA1","HBA2","HDAC8","HEATR3","HELLPAR","HESX1","HFE","HGD","HLA-A","HLA-B","HLA-DPA1","HLA-DPB1","HLA-DRB1","HMGCL","HNRNPK","HPGD","HRAS","HS3ST6","HSD3B2","HSPG2","HYMAI","IDH3A","IFIH1","IFNGR1","IFT140","IFT80","IGHM","IGLL1","IGSF3","IKBKG","IL10","IL12A","IL12A-AS1","IL1RN","IL23R","IL2RA","IL2RB","IL2RG","IL36RN","IL6","IL7R","INF2","INPPL1","INS","IRAK1","IRF4","ITK","IVD","IYD","JAG1","KAT6A","KCNJ1","KCNJ11","KCNN4","KCNQ2","KCTD1","KIAA0586","KIAA1549","KIF11","KIF1A","KIF20A","KIF7","KIT","KLF1","KLHL40","KLHL41","KLHL7","KLRC4","KNG1","KNSTRN","KPTN","KRAS","KRT13","KRT2","LACC1","LAMA2","LAMA3","LAMB2","LAMB3","LAMC2","LARS2","LBR","LCT","LHX3","LHX4","LIAS","LIG4","LIMK1","LIPN","LMOD3","LPIN2","LRP5","LRPPRC","LRRC8A","LTBP4","LYST","LYZ","LZTR1","MAGEL2","MAGI2","MAP2K1","MAP2K2","MAPK1","MAPRE2","MCEE","MCM10","MDFIC","MECOM","MED12L","MEFV","MEN1","METTL27","MFRP","MGAT2","MIF","MKKS","MLXIPL","MMAA","MMAB","MMACHC","MMUT","MOGS","MPI","MRAS","MRPS16","MRPS22","MRPS28","MST1","MT-CYB","MTO1","MUSK","MVK","MYBPC3","MYD88","MYH6","MYL11","MYLK","MYO1E","MYO5B","MYOF","MYPN","NAA10","NAGA","NARS2","NAXD","NAXE","NCF1","NDN","NDP","NDUFAF6","NDUFB10","NDUFS4","NEB","NEK1","NEK9","NEU1","NEUROG3","NFKBIA","NFKBIL1","NIPAL4","NIPBL","NKX2-5","NKX2-6","NLRP3","NOD2","NOS1AP","NOS3","NPHS1","NPHS2","NR0B1","NR1H4","NR2E3","NR3C1","NR3C2","NRAS","NRL","NSD1","NSF","NUP107","NUP133","NUP160","NUP205","NUP37","NUP85","NUP93","OCA2","OCRL","ODC1","OSGEP","OTC","OTULIN","OVOL2","PAX2","PBX1","PCCA","PCCB","PDE6G","PDGFRB","PDSS2","PDX1","PERCC1","PEX2","PEX5","PHGDH","PIEZO1","PIGA","PIGN","PIK3CA","PIK3CD","PIK3R1","PKHD1","PKLR","PLAA","PLAGL1","PLCE1","PLCG2","PLD1","PLG","PLVAP","PLXND1","PMM2","POLG","POLG2","POMGNT1","POMP","POU1F1","POU4F1","PPP3CA","PRF1","PRKAG2","PRKAR1A","PRKCD","PROP1","PRPF31","PRPF8","PRPH2","PRRT2","PRSS1","PRSS2","PRTN3","PSAT1","PSMB4","PSMB9","PSMG2","PSPH","PTEN","PTH1R","PTPN11","PTPN14","PTPN2","PTPN22","PTPRO","QRSL1","RAD21","RAF1","RAG1","RAG2","RANBP2","RASA1","RASA2","RASGRP1","RB1","RBM8A","RDH5","RECQL4","REEP6","RELN","RFC2","RHD","RHO","RIN2","RIT1","RLBP1","RMRP","RNF13","RNU7-1","RP1L1","RP9","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS7","RRAS","RRAS2","RRM2B","RYR1","SAT1","SCARB2","SCN1A","SCN4A","SCN5A","SCNN1A","SCNN1B","SCNN1G","SDR9C7","SEMA4D","SERPING1","SETD2","SFTPB","SFTPC","SGPL1","SHANK3","SLC12A1","SLC17A5","SLC1A3","SLC22A4","SLC22A5","SLC25A13","SLC25A4","SLC26A2","SLC26A3","SLC29A3","SLC34A1","SLC34A2","SLC35C1","SLC35D1","SLC39A7","SLC4A1","SLC4A11","SLC5A1","SLC5A2","SLC5A5","SLCO2A1","SMAD4","SMC1A","SMC3","SMCHD1","SMS","SNRPN","SNX14","SOS1","SOS2","SOX18","SPG11","SPI1","SPINK1","SPINK5","SPP1","SPRED2","SPTA1","SPTB","SPTBN1","STAG1","STAT3","STAT4","STX11","STX1A","STX3","SULT2B1","SUMF1","SYK","TALDO1","TAPT1","TBC1D8B","TBK1","TBL2","TBX20","TCF3","TCF4","TEK","TG","TGFB1","TGFBI","TGM1","THSD1","TICAM1","TIE1","TLL1","TLR3","TLR4","TMEM260","TMEM270","TMPRSS15","TNFRSF11B","TNFRSF1A","TNFRSF1B","TNNI3","TNNT2","TP53","TPO","TPRKB","TRAF3","TRAPPC2","TREX1","TRIM37","TRIP11","TRIP13","TRPC6","TSC1","TSC2","TSHB","TSHR","TSPAN12","TSR2","TTC26","TTR","TUBB","TWNK","TXNDC15","UBAC2","UBR1","UNC45A","UNC93B1","UROD","UROS","USB1","USP18","USP48","USP8","VAC14","VEGFC","VHL","VPS33B","VPS37D","VPS51","VSX1","WDR35","WNT7A","WT1","XPNPEP2","XYLT2","ZEB1","ZFP57","ZNF408","ZNFX1","ZNHIT3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_AMYLOIDOSIS":{"collection":"C5:HPO","systematicName":"M37745","pmid":"","exactSource":"HP:0011034","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011034","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AMYLOIDOSIS","geneSymbols":["APOA1","APOE","APP","ASXL1","B2M","CCND1","COL7A1","CST3","FGA","GPR35","GSN","IL31RA","ITM2B","KIT","LIG4","LYZ","MEFV","MMP1","MST1","NLRP1","NLRP3","OSMR","POLA1","PRNP","PSEN2","RET","SAA1","SEMA4D","SLC7A7","SRSF2","TACSTD2","TCF4","TET2","TNFRSF1A","TTR"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_RENAL_CORTEX_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M37746","pmid":"","exactSource":"HP:0011035","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011035","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RENAL_CORTEX_MORPHOLOGY","geneSymbols":["ACSL4","ACTN4","ADA","ALMS1","AMMECR1","ANKFY1","ANLN","APOE","APOL1","ARHGAP24","ARHGDIA","AVIL","BANK1","BLK","BSND","C1QA","C3","C4A","C4B","CASP10","CCR1","CD151","CD2AP","CD81","CD96","CDKN1C","CEP290","CEP83","CFH","CFHR5","CFI","CLCN5","CLCN7","CLCNKB","COL4A3","COL4A4","COL4A5","COL7A1","COPA","COQ2","COQ6","COQ7","COQ8B","CR2","CRB2","CSPP1","CTLA4","DAAM2","DCDC2","DGKE","DHX16","DLST","DNASE1","DNASE1L3","DNASE2","DNMT3A","DZIP1L","ELP1","EMP2","EPAS1","ERAP1","ETFA","ETFB","ETFDH","ETS1","FAH","FAS","FASLG","FCGR2A","FCGR2B","FCGR3B","FH","FN1","FOXC2","FOXP3","G6PC1","GAPVD1","GATA3","GLA","GON7","H4C3","HLA-B","HLA-DPA1","HLA-DPB1","HLA-DRB1","HNF1B","IFNG","IFNGR1","IFT140","IGF2","IGHG1","IL10","IL12A","IL12A-AS1","IL23R","INF2","INVS","IRAK1","IRF5","ITGA3","ITGAM","ITGB4","JAG1","JAK1","JAZF1","KANK2","KCNE5","KCNJ1","KCNQ1","KCNQ1OT1","KIAA0319L","KIAA0586","KIF1B","KIRREL1","KLRC4","LAGE3","LAMA5","LAMB2","LMNA","LMNB2","LMX1B","LPIN2","MAGI2","MAX","MDH2","MECP2","MEFV","MMACHC","MME","MMP1","MPDU1","MT-ATP6","MT-CO1","MT-CO2","MT-CO3","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND5","MT-ND6","MT-TE","MT-TF","MT-TH","MT-TK","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TV","MT-TW","MTRR","MTX2","MUC1","MYO1E","MYOCD","NAA10","NARS2","NEK8","NF1","NIPBL","NOS1AP","NPHP1","NPHP3","NPHP4","NPHS1","NPHS2","NUP107","NUP133","NUP160","NUP205","NUP37","NUP85","NUP93","OCRL","OSGEP","PAX2","PBX1","PDCD1","PDCD6IP","PEX1","PEX2","PGM3","PIGQ","PKHD1","PLCE1","PLEC","PRKCD","PRTN3","PTPN22","PTPRO","PXK","RASGRP1","REN","RET","RNU7-1","SCARB2","SDHA","SDHAF2","SDHB","SDHC","SDHD","SEC61A1","SGPL1","SKIC3","SLC12A1","SLC12A3","SLC25A11","SLC37A4","SLC41A1","SLC7A7","SMARCAL1","SOCS1","SOX18","SPP1","SPRY2","STAT4","TBC1D8B","TLR4","TLR7","TMEM127","TMEM67","TNFAIP3","TNFSF4","TNIP1","TP53RK","TPRKB","TREX1","TRIM8","TRPC6","TSC2","TULP3","UBAC2","UBE2L3","USP18","VHL","VPS33A","VPS33B","WAS","WDR19","WDR4","WDR73","WIPF1","WT1","XPNPEP3","YRDC","ZAP70","ZNF699","ZNFX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_RENAL_EXCRETION":{"collection":"C5:HPO","systematicName":"M37747","pmid":"","exactSource":"HP:0011036","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011036","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_RENAL_EXCRETION","geneSymbols":["ACE","AGT","AGTR1","APRT","AQP2","ATP1A1","AVPR2","BSND","C3","CASR","CAV1","CCN2","CCR6","CD46","CFB","CFH","CFHR1","CFHR3","CFI","CLCNKA","CLCNKB","CLDN10","CLDN16","CTNS","CYP24A1","DMP1","DZIP1L","ENPP1","FAM20A","GALNT3","HLA-DRB1","HNF1A","IL6","IRF5","ITPR3","KCNJ1","KCNJ10","KCNJ5","KL","LPIN1","LZTFL1","MAGED2","MT-CO1","MT-CO3","MUC1","MYH11","NPHP1","NPHP3","NPHP4","OBSCN","PAX2","PBX1","PKHD1","PLVAP","PTPN22","REN","RRAGD","RYR1","SARS2","SLC12A1","SLC12A3","SLC22A12","SLC25A20","SLC34A1","SLC41A1","SLC5A2","SON","THBD","TMEM67"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DECREASED_URINE_OUTPUT":{"collection":"C5:HPO","systematicName":"M37748","pmid":"","exactSource":"HP:0011037","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011037","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_URINE_OUTPUT","geneSymbols":["ACE","AGT","AGTR1","APRT","C3","CAV1","CCN2","CCR6","CD46","CFB","CFH","CFHR1","CFHR3","CFI","DZIP1L","HLA-DRB1","IRF5","LPIN1","MT-CO1","MT-CO3","MYH11","OBSCN","PAX2","PBX1","PKHD1","REN","RYR1","SLC22A12","SLC25A20","THBD"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_RENAL_TUBULAR_RESORPTION":{"collection":"C5:HPO","systematicName":"M37749","pmid":"","exactSource":"HP:0011038","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011038","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RENAL_TUBULAR_RESORPTION","geneSymbols":["BCS1L","BSND","CEP290","CLCNKA","CLCNKB","CNNM2","COA8","CTNS","FAH","FAM20A","GALNT3","GATM","HNF1B","HNF4A","MT-TN","MT-TS1","NPHP1","OCRL","PIGA","POLRMT","RRM2B","SLC12A3","SLC4A4","SURF1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_HELIX_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M37750","pmid":"","exactSource":"HP:0011039","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011039","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_HELIX_MORPHOLOGY","geneSymbols":["AASS","ABCA12","ACBD5","ACTB","ADAMTSL2","AFF2","AFF4","AGO2","ALOX12B","ALOXE3","AMER1","AMMECR1","ARVCF","ASPRV1","ASXL2","BCL11A","BCOR","BHLHA9","BICRA","BMP2","BRAF","CBL","CDH2","CDK13","CDKN1C","CHD7","CHUK","CLIC2","COL2A1","COMT","CPOX","CPT2","CREBBP","CSNK2A1","CSPP1","CYP4F22","DACT1","DDX3X","DDX6","DHX30","DIS3L2","DOCK7","DSP","DYRK1A","EBF3","EBP","EDEM3","EDN1","EFTUD2","EP300","FANCB","FBN1","FBN2","FGFR2","FGFR3","FN1","FOXP1","FOXP2","FRAS1","FREM1","FZD2","GDF11","GNAI3","GNB1","GP1BB","GPC3","GPC4","H4C5","HIRA","HOXA2","HS2ST1","HSPG2","IGF2","JMJD1C","JUP","KANSL1","KCNQ1","KCNQ1OT1","KCTD1","KIAA0586","KMT2D","KRAS","LIPN","LMNA","LONP1","LZTR1","MAP1B","MAP2K1","MAP2K2","MAPRE2","MED12","MRAS","NAA10","NARS1","NDP","NF1","NFIA","NFIX","NIPAL4","NIPBL","NR2F1","NRAS","NSD2","PAH","PBX1","PEX1","PEX2","PEX5","PGAP2","PGAP3","PGM2L1","PIGA","PIGB","PIGL","PIGN","PIGO","PIGS","PIGV","PIGW","PIGY","PLCB4","PPP1CB","PPP2R3C","PTPN11","PYCR1","PYCR2","RAF1","RASA2","RB1","RECQL4","RIT1","RPS23","RRAS","RRAS2","RREB1","RTTN","SALL1","SCARF2","SCNM1","SDR9C7","SEC24C","SEMA3E","SETBP1","SIN3A","SLC16A2","SLC25A12","SLC26A2","SLC6A8","SMC1A","SMS","SOS1","SOS2","SPECC1L","SPOP","SPRED2","STEEP1","SULT2B1","SUPT16H","TAF1","TASP1","TBX1","TBX2","TCF3","TCF4","TCTN3","TFAP2A","TGFB3","TGM1","TMEM94","TRIO","TUBB","TWIST1","UFD1","VPS51","XYLT2","ZMIZ1","ZMPSTE24","ZMYND11","ZNF462"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_INTRAHEPATIC_BILE_DUCT_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M37751","pmid":"","exactSource":"HP:0011040","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011040","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_INTRAHEPATIC_BILE_DUCT_MORPHOLOGY","geneSymbols":["AKR1D1","CC2D2A","CLDN1","DCDC2","DZIP1L","IL12A","IL12RB1","INPP5E","IRF5","JAG1","KIF3B","LMBRD1","LMNA","MED12","MMEL1","PEX1","PEX14","PEX2","PEX5","PKHD1","POU2AF1","RPGRIP1L","SPIB","TCTN3","TMEM67","TNFSF15","TNPO3","TTC26","VPS33B","WDR19","ZFYVE19"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_BLOOD_POTASSIUM_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M37752","pmid":"","exactSource":"HP:0011042","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011042","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BLOOD_POTASSIUM_CONCENTRATION","geneSymbols":["ABCB6","AIP","AKAP9","ALDOA","ANK2","ATP1A1","ATP6V0A4","BMPR1A","BSND","CA12","CACNA1C","CACNA1D","CACNA1S","CALM1","CALM2","CALM3","CASR","CAV3","CDH23","CDKN2A","CLCN2","CLCNKA","CLCNKB","CLDN10","COL3A1","CTNNB1","CTNS","CUL3","CYP11A1","CYP11B1","CYP11B2","CYP17A1","DEF6","EHHADH","FXYD2","GABRA3","GATM","GEMIN4","HSD11B2","HSD3B2","INSR","INVS","KCNE1","KCNE2","KCNE3","KCNH2","KCNJ1","KCNJ10","KCNJ18","KCNJ2","KCNJ5","KCNN4","KCNQ1","KLHL3","LPIN1","MAGED2","MC2R","MRAP","MT-CO1","MT-CO3","NDUFAF6","NFKB2","NNT","NOS1AP","NR3C1","NR3C2","NUP214","OBSCN","OCRL","PAX2","PBX1","PIEZO1","PKD2","POLG2","POR","PRKAR1A","RRAGD","RYR1","SAMD9","SCN10A","SCN4A","SCN4B","SCN5A","SCNN1A","SCNN1B","SCNN1G","SERPINA6","SLC12A1","SLC12A3","SLC26A3","SLC2A1","SLC2A2","SLC30A9","SLC34A1","SLC4A1","SLC4A2","SLC4A4","SMAD4","SNTA1","STAR","TBX19","TBX5","TERT","TP53","TRDN","TXNRD2","UNC45A","USP8","WNK1","WNK4","ZNRF3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CIRCULATING_ADRENOCORTICOTROPIN_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M37753","pmid":"","exactSource":"HP:0011043","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011043","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_ADRENOCORTICOTROPIN_CONCENTRATION","geneSymbols":["AIP","AKT1","ARMC5","ATRX","BAP1","BRAF","CDH23","CYP11A1","CYP11B1","DAXX","FOXA2","GLI2","GNAS","HESX1","LHX3","LHX4","MC2R","MEN1","MRAP","NF2","NFKB2","NNT","NR3C1","OTX2","PDE11A","PDGFB","PIK3CA","POR","POU1F1","PRKAR1A","PROP1","ROBO1","SMARCB1","SMARCE1","SMO","SOX3","STAR","SUFU","TERT","TP53","TRAF7","TXNRD2","USP48","USP8"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_NUMBER_OF_PERMANENT_TEETH":{"collection":"C5:HPO","systematicName":"M37754","pmid":"","exactSource":"HP:0011044","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011044","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_NUMBER_OF_PERMANENT_TEETH","geneSymbols":["ARHGAP29","ARHGEF38","BMP4","C1R","C1S","CDH1","COBLL1","CREBBP","DLG1","DLX4","DVL3","EP300","GNB2","IRF6","KCTD1","LRP6","MESD","MSX1","NECTIN1","OFD1","PDGFRA","RAB23","RAD51","RECQL4","RIC1","RIPK4","SATB2","TP63","UBR1","WDR35","WNT10A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_DENTAL_STRUCTURE":{"collection":"C5:HPO","systematicName":"M37755","pmid":"","exactSource":"HP:0011061","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011061","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_DENTAL_STRUCTURE","geneSymbols":["AARS1","ABL1","ACP4","ADGRV1","ADNP","AGA","AIRE","AKT1","ALDH3A2","ALDOB","ALMS1","ALPL","AMBN","AMELX","AMTN","ANAPC1","AP3B1","APC","ARSB","ARVCF","ATP6V0A2","ATP6V1A","ATP6V1E1","ATR","ATRIP","AXIN2","B3GALT6","BAZ1B","BCL7B","BMP1","BRF1","BUD23","C12orf57","CARS1","CAV1","CCDC134","CCDC8","CCN2","CCR6","CDH1","CDH11","CDH23","CDH3","CENPE","CENPJ","CEP152","CHD3","CIB2","CLCN7","CLDN1","CLDN19","CLEC7A","CLIP2","CNNM4","COG6","COL17A1","COL1A1","COL1A2","COL2A1","COL3A1","COL5A1","COL5A2","COL7A1","COMT","COX4I2","COX7B","CREBBP","CRLF1","CRTAP","CSTB","CTBP1","CTC1","CTNND1","CTSK","CUL7","CYP27B1","CYP2R1","DDX59","DEAF1","DHCR7","DIAPH1","DKC1","DLX3","DMP1","DNA2","DNAJC21","DNAJC30","DPH5","DSPP","EDA","EDAR","EDARADD","EFL1","EIF4H","ELANE","ELMO2","ELN","ENAM","ENPP1","EP300","ERCC1","ERCC2","ERCC3","ERCC4","ERCC6","ERCC8","ESPN","FAM111A","FAM20A","FAM20C","FAM83H","FBXO28","FERMT1","FGF10","FGF23","FGF3","FGFR1","FGFR2","FGFR3","FIG4","FKBP10","FKBP6","FLII","FLNA","FLNB","GALNS","GALNT3","GATA1","GJA1","GLB1","GNAS","GNB2","GP1BB","GPR68","GREM2","GRHL2","GTF2E2","GTF2H5","GTF2I","GTF2IRD1","GTF2IRD2","HCCS","HECTD4","HERC2","HIRA","HLA-DQA1","HLA-DQB1","HLA-DRB1","HRAS","IFIH1","IFITM5","IFT122","IFT43","IFT52","IKBKG","IL17F","IL17RA","IL17RC","IQSEC2","IRF5","IRF6","IRX5","ITGA6","ITGB4","ITGB6","JMJD1C","KCNJ2","KCNJ5","KIF7","KLK4","KMT2D","KRAS","KRT14","KRT5","LAMA3","LAMB3","LAMC2","LIFR","LIMK1","LMNA","LMX1B","LONP1","LRP4","LRP6","LTBP3","MAGEL2","MAPRE2","MBTPS2","MED12","MEGF8","METTL27","MIA3","MKRN3","MLXIPL","MMP1","MMP13","MMP20","MPLKIP","MSX1","MYO7A","NCF1","NDUFB11","NECTIN1","NECTIN4","NEK1","NF1","NHP2","NOP10","NPAP1","NPM1","NRAS","NTRK1","NUP133","NUP85","OBSL1","OCRL","ODAPH","OFD1","ORAI1","P3H1","P4HB","PAK2","PARN","PAX1","PAX9","PCDH15","PCGF2","PCNT","PDE4D","PDZD7","PEPD","PERP","PEX1","PEX6","PGAP1","PGM2L1","PHEX","PIK3C2A","PIK3R1","PKP1","PLEC","PLK4","POLR1B","POLR1C","POLR1D","PORCN","PPIB","PPP1CB","PPP1R15B","PTCH1","PTCH2","PTDSS1","PTEN","PWAR1","PWRN1","RAD21","RAI1","RBBP8","RBM28","RECQL4","RELT","RFC2","RHOA","RNF113A","RNU12","ROGDI","RREB1","RTEL1","RUNX2","SATB1","SBDS","SCNM1","SCUBE3","SEC23A","SEC24C","SEC24D","SERPINF1","SERPINH1","SFRP4","SGMS2","SHOC2","SLC10A7","SLC12A2","SLC13A5","SLC24A4","SLC29A3","SLC35A2","SLC37A4","SLF2","SMARCA2","SMARCD2","SMCHD1","SMOC2","SNORD115-1","SNORD116-1","SNRPB","SNRPN","SOX9","SP6","SP7","SPARC","SRCAP","SRP54","STIM1","STX16","STX1A","SUFU","SUMO1","TARS1","TBCE","TBL2","TBX1","TCIRG1","TCOF1","TERC","TERT","TGFA","TGFB1","THOC6","TINF2","TMEM165","TMEM270","TNFRSF11A","TNFSF11","TP63","TRAF3IP2","TRAIP","TRIM37","TRIP11","TRMT10A","TRPS1","TRPV3","TSC1","TTC7A","TYMS","UBE3B","UBR1","UFD1","UROD","UROS","USB1","USH1C","USH1G","USH2A","VAC14","VDR","VPS37D","WDR19","WDR35","WDR72","WHRN","WNT10A","WNT10B","WRAP53","ZMPSTE24","ZMYM2","ZNF469"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MISALIGNMENT_OF_INCISORS":{"collection":"C5:HPO","systematicName":"M43387","pmid":"","exactSource":"HP:0011062","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011062","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MISALIGNMENT_OF_INCISORS","geneSymbols":["ABCC9","ALX3","ANKRD11","ATRX","CHSY1","DNMT3A","DOCK7","FREM1","GATAD2B","HMGB3","HRAS","RNF2","SCUBE3","STAG1","TBC1D2B","TUBGCP2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_INCISOR_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M37756","pmid":"","exactSource":"HP:0011063","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011063","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_INCISOR_MORPHOLOGY","geneSymbols":["ABCC9","ARHGAP29","ARHGEF38","ATP6V1B2","ATR","AXIN2","B3GLCT","BMP4","BRF1","CACNA1I","CCBE1","CDH1","CHSY1","CKAP2L","COBLL1","COL11A1","CREBBP","CTCF","DLG1","DLX4","DPH2","DYNC2LI1","EDA","EDARADD","EP300","EVC","EVC2","FARS2","FGF3","FGFR1","FGFR2","GJA1","GLI1","GRIA3","IKBKG","IRF6","KAT6A","KCNK9","KCNMA1","LRP6","MSX1","NECTIN1","NEK1","NHS","PACS2","PAX9","PDGFRA","PRKACA","PRKACB","PURA","RIC1","ST14","SUMO1","TBC1D24","TGFA","TP63","VPS13B","WNT10A","WNT10B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_NUMBER_OF_INCISORS":{"collection":"C5:HPO","systematicName":"M37757","pmid":"","exactSource":"HP:0011064","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011064","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_NUMBER_OF_INCISORS","geneSymbols":["ANKRD11","ARHGAP29","ARHGEF38","AXIN2","B3GLCT","BCOR","BLM","BMP4","CDC42BPB","CDH1","CDH11","CDON","CNOT1","COBLL1","DISP1","DLG1","DLL1","DLX3","DLX4","EDA","EDARADD","EIF4A3","ERCC3","EVC","EVC2","FGF8","FGFR1","FOXH1","GAS1","GLI2","IRF6","LRP6","MID1","MSX1","NAA10","NECTIN1","NEK1","NHS","NODAL","PAX9","PDGFRA","PLCH1","PTCH1","RIC1","RIPK4","SHH","SIX3","SMAD2","SMC1A","STAG2","STIL","SUFU","SUMO1","TDGF1","TGFA","TGIF1","TP63","WNT10A","WNT10B","ZIC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CONICAL_INCISOR":{"collection":"C5:HPO","systematicName":"M37758","pmid":"","exactSource":"HP:0011065","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011065","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONICAL_INCISOR","geneSymbols":["ARHGAP29","ARHGEF38","ATR","AXIN2","B3GLCT","BMP4","CCBE1","CDH1","COBLL1","DLG1","DLX4","DYNC2LI1","EDA","EDARADD","EVC","EVC2","FGF3","FGFR1","FGFR2","GLI1","IKBKG","IRF6","KAT6A","LRP6","MSX1","NECTIN1","NEK1","PAX9","PDGFRA","PRKACA","PRKACB","RIC1","ST14","SUMO1","TGFA","TP63","WNT10A","WNT10B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SUPERNUMERARY_TOOTH":{"collection":"C5:HPO","systematicName":"M37759","pmid":"","exactSource":"HP:0011069","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011069","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUPERNUMERARY_TOOTH","geneSymbols":["ACSL4","ADAMTS3","AMMECR1","APC","ATP6V1B2","BCOR","C2CD3","CAMTA1","CBFB","CCBE1","CDH11","CREBBP","DDX59","DHCR7","DVL1","DVL3","DYNC2LI1","DYRK1A","EP300","EXT1","FAT4","FGF3","FZD2","HSPG2","IL11RA","IL6ST","IRF6","KCNE5","KCNH1","KCNMA1","KCNN3","KRT14","MSX1","MSX2","NECTIN1","NHS","NXN","OFD1","PIGL","POU4F1","PUF60","RAD21","RECQL4","ROR2","RPS23","RUNX2","SLC37A4","TCF12","TP63","TRPS1","WNT5A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_DENTAL_COLOR":{"collection":"C5:HPO","systematicName":"M37760","pmid":"","exactSource":"HP:0011073","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011073","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_DENTAL_COLOR","geneSymbols":["ADGRV1","ALMS1","AMBN","CNNM4","COL17A1","DLX3","DSPP","ENAM","FAM20A","GALNS","GATA1","GLB1","HRAS","ITGB4","ITGB6","KCNJ2","KCNJ5","KLK4","KRAS","KRT14","MMP20","MYO7A","NRAS","PDZD7","RELT","ROGDI","SATB1","SLC13A5","SLC24A4","UROD","UROS","USH2A","WHRN"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_PREMOLAR":{"collection":"C5:HPO","systematicName":"M47173","pmid":"","exactSource":"HP:0011076","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011076","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_PREMOLAR","geneSymbols":["AXIN2","EDA","EDARADD","FGF3","FGFR1","IRF6","LRP6","MSX1","PAX9","SUMO1","TGFA","WNT10A","WNT10B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_CANINE":{"collection":"C5:HPO","systematicName":"M37762","pmid":"","exactSource":"HP:0011078","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011078","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_CANINE","geneSymbols":["APC","AXIN2","CHSY1","DDX59","EDA","EDARADD","FGF3","FGFR1","IRF6","KDM1A","LRP6","MSX1","PAX9","SUMO1","TGFA","WNT10A","WNT10B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_IMPACTED_TOOTH":{"collection":"C5:HPO","systematicName":"M41405","pmid":"","exactSource":"HP:0011079","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011079","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPACTED_TOOTH","geneSymbols":["CDH11","FLNA","HOXD13","LMNA","PTH1R","SH3BP2","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INCISOR_MACRODONTIA":{"collection":"C5:HPO","systematicName":"M37763","pmid":"","exactSource":"HP:0011081","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011081","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCISOR_MACRODONTIA","geneSymbols":["ABCC9","ATP6V1B2","BRF1","CACNA1I","COL11A1","CTCF","FARS2","GJA1","GRIA3","KCNK9","KCNMA1","PACS2","PURA","TBC1D24","VPS13B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INCREASED_OVERBITE":{"collection":"C5:HPO","systematicName":"M37764","pmid":"","exactSource":"HP:0011094","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011094","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_OVERBITE","geneSymbols":["ACP4","ALKBH8","EP300","EYA1","GRB10","HIVEP2","MYMX","PRR12","RIC1","SIX1","SPART"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PERIPHERAL_DEMYELINATION":{"collection":"C5:HPO","systematicName":"M37765","pmid":"","exactSource":"HP:0011096","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011096","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERIPHERAL_DEMYELINATION","geneSymbols":["ABCA1","ARHGEF10","ARSA","COQ7","CTDP1","DNM2","EGR2","FA2H","FLVCR1","GALC","GBF1","GCDH","GDAP1","GNB4","HK1","KIF1C","LITAF","LMNB1","LRPPRC","MAT1A","MMACHC","MOCS1","MOCS2","MPZ","MT-ATP6","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND5","MT-ND6","MT-TK","MT-TL1","MT-TV","MT-TW","MTTP","NDRG1","NEFL","PEX16","PLP1","PMP2","PMP22","PRPS1","PRX","PSAP","SBF2","SH3TC2","SOX10","SPTBN1","SUMF1","SURF1","TYROBP","UBTF"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_EPILEPTIC_SPASM":{"collection":"C5:HPO","systematicName":"M37766","pmid":"","exactSource":"HP:0011097","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011097","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EPILEPTIC_SPASM","geneSymbols":["ACTL6B","ADGRG1","AKT3","ALDH7A1","ALG13","ALG14","ALG2","AP2M1","APC2","ARFGEF1","ARX","ASAH1","ASPA","ATAD1","ATP1A3","ATP2B1","ATP6V0A1","ATP6V1A","ATP7A","BTD","CACNA1B","CASK","CDC40","CDH2","CDK19","CDKL5","CELF2","CEP85L","CHD2","CHD3","CLCN4","CNPY3","COX4I1","CPLX1","CTNNA2","CUL3","D2HGDH","DCX","DEPDC5","DHX16","DHX37","DMXL2","DNM1","DOCK7","DOLK","DPAGT1","EEF1A2","EHMT1","ERCC5","ERMARD","FBLN1","FBXO28","GABBR2","GABRA3","GABRB3","GABRG2","GAD1","GCDH","GNAO1","GNB1","GOLGA2","GRIK2","GRIN1","GRIN2A","GRIN2B","GRM7","GUF1","HCFC1","HDAC4","HIBCH","HK1","IFNG","KCNA1","KCNB1","KCNC2","KCNQ2","KCNQ5","KCNT1","KCNT2","KDM4B","KIF1A","LONP1","MACF1","MAPK1","MDH2","MECP2","MFF","MGAT2","MMACHC","MT-ATP6","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND5","MT-ND6","MT-TK","MT-TL1","MT-TV","MT-TW","MTOR","NACC1","NAXD","NCDN","NDUFAF8","NEDD4L","NEUROD2","NEXMIF","NGLY1","NPRL2","NPRL3","NSF","NTNG1","NTRK2","OGDHL","PAFAH1B1","PCDH12","PDHA1","PHACTR1","PHGDH","PI4KA","PIGA","PIGP","PIGQ","PIK3CA","PLCB1","PLPBP","PNKP","PPFIBP1","PPIL1","PPP3CA","PRRT2","PRUNE1","PSAT1","PTPN23","PURA","RALGAPA1","RNF13","RNU4ATAC","RUSC2","SCN1A","SCN1B","SCN2A","SCN8A","SEPSECS","SETBP1","SIK1","SLC12A5","SLC19A3","SLC1A2","SLC1A4","SLC25A10","SLC25A22","SLC2A1","SLC32A1","SLC35A2","SLC6A1","SMARCA2","SMC1A","SPATA5","SPATA5L1","SPTAN1","SPTBN1","SRPX2","ST3GAL3","STAMBP","STRADA","STXBP1","SUCLA2","SYNGAP1","SYNJ1","TANGO2","TBC1D24","TBCD","TBL1XR1","TIMM50","TRAPPC12","TRIM8","TRPM3","TSC1","TSC2","TSEN15","TSEN2","TSEN34","TSEN54","TUBA1A","TUBA8","TUBB2A","TUBB2B","TUBB3","TUBG1","UBA5","UFC1","UFSP2","UGDH","VPS53","WDR45","ZNF526","ZNHIT3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SPEECH_APRAXIA":{"collection":"C5:HPO","systematicName":"M37767","pmid":"","exactSource":"HP:0011098","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011098","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPEECH_APRAXIA","geneSymbols":["CHD1","CHD3","DLAT","DMPK","EBF3","FOXP1","FOXP2","FRRS1L","GALK1","GALT","GRIN2A","KANSL1","KDM6B","MAPT","MED13","NONO","PACS1","POU4F1","PRKAR1B","PTEN","PURA","RAI1","RNF135","SH2B1","SLC25A15","SLC6A8","SPART","SRCAP","SRPX2","STUB1","TRAPPC11","USP7"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INTESTINAL_ATRESIA":{"collection":"C5:HPO","systematicName":"M37768","pmid":"","exactSource":"HP:0011100","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011100","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTESTINAL_ATRESIA","geneSymbols":["AP1S1","BUB1","BUB1B","BUB3","CAMK2A","CDON","CENPF","CEP57","CFAP45","CHD7","CHRM3","CLMP","COX7B","DIS3L2","DISP1","DLL1","DYRK1A","FANCB","FANCF","FBN2","FGF8","FGFR1","FLI1","FOXF1","FOXH1","FREM2","GAS1","GLI2","GMPPB","HCCS","ITGA6","ITGB4","KDM3B","MIR17HG","MYCN","MYH11","NDUFB11","NODAL","PI4KA","PIGN","PORCN","PPP1R12A","PTCH1","RAD51C","RERE","RFWD3","RFX6","RTTN","SALL1","SHH","SIN3A","SIX3","SLC25A12","SON","SPINK5","STAG2","SUFU","TCTN3","TDGF1","TGIF1","TRIP13","TTC7A","WBP11","ZIC2","ZIC3","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ILEAL_ATRESIA":{"collection":"C5:HPO","systematicName":"M46193","pmid":"","exactSource":"HP:0011102","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011102","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ILEAL_ATRESIA","geneSymbols":["DIS3L2","GMPPB","MYH11","PPP1R12A","TTC7A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_LEFT_VENTRICULAR_OUTFLOW_TRACT_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M37769","pmid":"","exactSource":"HP:0011103","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011103","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LEFT_VENTRICULAR_OUTFLOW_TRACT_MORPHOLOGY","geneSymbols":["ACTC1","ADAMTS19","ALG9","BUB1","BUB1B","BUB3","CAV3","CEP57","FGFR1","FOCAD","GATA5","GNB2","HDAC4","IFIH1","MYH6","MYH7","MYLK2","NKX2-5","NOTCH1","PIGL","PTPN11","SMAD6","SYT2","TAB2","TRIP13","WDPCP","ZIC3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPOVOLEMIA":{"collection":"C5:HPO","systematicName":"M47174","pmid":"","exactSource":"HP:0011106","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011106","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOVOLEMIA","geneSymbols":["ABCC8","ACTA2","AQP2","AVPR2","CTNS","CYP11A1","ELN","FBN1","FOXE3","FSHR","GCK","HEY2","INS","KCNJ11","LOX","MAT2A","MFAP5","MYH11","MYLK","MYO5B","PDX1","PRKG1","SMAD2","SMAD3","SMAD4","STAT3","STX3","TGFB2","TGFB3","TGFBR1","TGFBR2","THSD4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RECURRENT_SINUSITIS":{"collection":"C5:HPO","systematicName":"M37772","pmid":"","exactSource":"HP:0011108","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011108","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_SINUSITIS","geneSymbols":["ACP5","ADA2","ALMS1","BTK","C4B","CCDC65","CD19","CFAP298","CFAP74","CFI","COL5A1","COL5A2","CR2","DNAAF1","DNAAF11","DNAAF2","DNAAF4","DNAAF5","DNAAF6","DNAH5","DNAI2","DNAJB13","DOCK8","FCGR3A","GAS2L2","HYDIN","ICOS","IGHM","IKBKB","IKBKG","IL17RA","IL21R","IRF2BP2","IVNS1ABP","LRBA","MAGT1","MCIDAS","MDM4","MGP","NCF4","NEK10","NFKB1","NFKB2","NFKBIA","NME5","NME8","ODAD1","ODAD2","PIK3CD","PRKCD","PSMB8","RAC2","RNF168","RSPH1","RSPH4A","SASH3","SH3KBP1","SPAG1","SPI1","STK36","STK4","STXBP2","TBX1","TMCO1","TNFRSF13B","TNFRSF13C","TNFRSF9","UNC119","USB1","WAS","ZMYND10","ZNF341"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CHRONIC_SINUSITIS":{"collection":"C5:HPO","systematicName":"M37773","pmid":"","exactSource":"HP:0011109","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011109","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHRONIC_SINUSITIS","geneSymbols":["BLNK","CCDC103","CCDC39","CCDC40","CCDC65","CCNO","CD79B","CFAP221","CFAP298","CFAP300","CFAP45","CFAP52","CFAP74","CFTR","CSPP1","DNAAF1","DNAAF11","DNAAF2","DNAAF3","DNAAF4","DNAAF5","DNAAF6","DNAH1","DNAH11","DNAH5","DNAH7","DNAH9","DNAI1","DNAI2","DNAJB13","DNAL1","DRC1","FCGR2A","FOXJ1","GAS2L2","GAS8","HYDIN","IGHG2","IGKC","LIG4","LRRC56","MCIDAS","MGP","NEK10","NME5","NME8","ODAD1","ODAD2","ODAD3","ODAD4","OFD1","PGM3","PIK3CD","PIK3R1","PTEN","RNF168","RPGR","RSPH1","RSPH3","RSPH4A","RSPH9","SASH3","SPAG1","SPEF2","STK36","TAP1","TAP2","TAPBP","TGFB1","TTC12","ZMYND10"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RECURRENT_TONSILLITIS":{"collection":"C5:HPO","systematicName":"M41406","pmid":"","exactSource":"HP:0011110","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011110","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_TONSILLITIS","geneSymbols":["BLM","C3","CYBC1","ELANE","IGHG2","IGKC","MPEG1","MYO5A","PIK3CD","PIK3R1","PTEN","RIPK1","SCNN1A","SCNN1B","SCNN1G"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_SERUM_CYTOKINE_LEVEL":{"collection":"C5:HPO","systematicName":"M47175","pmid":"","exactSource":"HP:0011112","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011112","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_SERUM_CYTOKINE_LEVEL","geneSymbols":["ABCB11","ABCB4","ADAR","ANKRD55","ATP8B1","CARD10","CASP10","CD247","ELF4","FADD","FAS","FASLG","HMOX1","IFIH1","IL12RB1","IL2RA","IL2RB","IL6R","LSM11","MEFV","NR1H4","POLA1","PRF1","PRKCD","PSMB8","PTPN2","PTPN22","RASGRP1","RNASEH2A","RNASEH2B","RNASEH2C","RNU7-1","SAMHD1","SASH3","SP110","STAT1","STAT4","STX11","STXBP2","TOM1","TREX1","UNC13D"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_CYTOKINE_SECRETION":{"collection":"C5:HPO","systematicName":"M43388","pmid":"","exactSource":"HP:0011113","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011113","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_CYTOKINE_SECRETION","geneSymbols":["MEFV","NFKBIA","PRF1","STX11","STXBP2","UNC13D"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_TUMOR_NECROSIS_FACTOR_SECRETION":{"collection":"C5:HPO","systematicName":"M43389","pmid":"","exactSource":"HP:0011118","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011118","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_TUMOR_NECROSIS_FACTOR_SECRETION","geneSymbols":["MEFV","PRF1","STX11","STXBP2","UNC13D"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_NASAL_DORSUM_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M37775","pmid":"","exactSource":"HP:0011119","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011119","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_NASAL_DORSUM_MORPHOLOGY","geneSymbols":["AASS","ABCA12","ADAR","ADAT3","ALDH18A1","ALG9","ALX4","AP4M1","APC","ARSL","ASH1L","ASPH","ATP6V1E1","ATP7A","ATR","ATRIP","ATRX","B9D1","B9D2","BANF1","BMPER","BUB1","BUB1B","BUB3","C12orf57","CANT1","CASZ1","CAV1","CC2D2A","CCDC22","CDON","CENPE","CENPJ","CENPT","CEP152","CEP290","CEP55","CEP57","CHRNA1","CHRND","CHRNG","CLCN3","CNOT3","COG4","COL1A1","COL1A2","COL3A1","CPLX1","CREBBP","CSGALNACT1","CSPP1","CTBP1","CTSK","DDR2","DISP1","DLL1","DMXL2","DNA2","DONSON","DPF2","DZIP1L","EBP","EDA","EDA2R","EDAR","EDARADD","EFEMP2","EFNB1","ELN","EP300","ERCC2","ERCC4","ERF","EXOSC2","FAM20C","FBN1","FBXL4","FGF20","FGF8","FGFR1","FGFR2","FGFR3","FGFRL1","FOCAD","FOXA2","FOXC1","FOXH1","FOXP2","GABRD","GAS1","GFRA1","GH1","GHR","GLB1","GLI2","GLI3","GMNN","GREB1L","GRIP1","HDAC6","HESX1","HNRNPH1","HNRNPK","HRAS","HSPA9","HSPG2","IFIH1","IGF1","IL11RA","IL2RA","ITCH","ITGA8","JAG1","KCNAB2","KDF1","LBR","LEMD2","LETM1","LHX4","LIG4","LMBR1","LMNA","LRP4","LSM11","LTBP1","LUZP1","MAN2B1","MBD5","MBTPS2","MEIS2","METTL5","MGAT2","MKS1","MMP23B","MN1","MSL3","MTX2","MYH3","NALCN","NBN","NEK9","NFKBIA","NHEJ1","NODAL","NRAS","NSD2","NUP188","NUP85","OTX2","PAX3","PAX7","PCNT","PDE4D","PDGFRB","PDPN","PEPD","PEX1","PEX12","PHGDH","PIGL","PKHD1","PLCH1","PLK4","POLD1","POLR3A","POU1F1","PPP2R3C","PRDM16","PRKAR1A","PRKCZ","PRMT7","PROP1","PRPS1","PSAT1","PTCH1","PTF1A","PTPN11","PUS1","PYCR1","RBBP8","RECQL","RECQL4","RERE","RET","RLIM","RMRP","RNASEH2A","RNASEH2B","RNASEH2C","RNU7-1","RPGRIP1","RPGRIP1L","RPL10","RPS19","RUNX2","SAMHD1","SATB2","SCARF2","SHANK3","SHH","SIX3","SKI","SKIC3","SLC25A24","SLC2A10","SLC35C1","SLC37A4","SMARCA2","SMC1A","SNAP29","SOST","SOX3","SOX9","SPEN","STAG2","STAT5B","STIL","SUZ12","TBCE","TBL1XR1","TBX1","TCTN1","TCTN2","TCTN3","TDGF1","TFAP2B","TGIF1","TMEM107","TMEM216","TMEM231","TMEM237","TMEM67","TRAF6","TRAIP","TREX1","TRIP13","TWIST1","TWIST2","TXNDC15","UBE4B","UBR1","VPS13B","WDR73","WNT9B","WRN","XRCC4","ZEB2","ZIC2","ZMPSTE24","ZPR1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CONCAVE_NASAL_RIDGE":{"collection":"C5:HPO","systematicName":"M37776","pmid":"","exactSource":"HP:0011120","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011120","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONCAVE_NASAL_RIDGE","geneSymbols":["ATP6V1E1","CANT1","DDR2","DMXL2","EBP","EXOSC2","FBXL4","FOXC1","HSPG2","IGF1","IL2RA","JAG1","KDF1","NFKBIA","PEPD","POU1F1","RECQL4","SHANK3","SLC37A4","SOST","STAT5B","ZEB2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_SKIN_PHYSIOLOGY":{"collection":"C5:HPO","systematicName":"M37777","pmid":"","exactSource":"HP:0011122","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011122","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_SKIN_PHYSIOLOGY","geneSymbols":["AARS1","ABCA12","ABCB11","ABCB4","ABCC6","ABCC9","ACADVL","ACP5","ADA","ADA2","ADAM17","ADAMTS3","ADAR","AGA","AIP","AIRE","AK2","ALOX12B","ALOXE3","ANGPT2","ANK1","AP1B1","AP1S3","AP3B1","APOA1","AQP5","AR","ARHGEF2","ARMC5","ARPC1B","ARVCF","ASPRV1","ASXL1","ATP2A2","ATP7B","ATP8B1","ATRX","AUTS2","B2M","B4GALT1","BANK1","BCL11B","BLK","BLM","BLNK","BLOC1S6","BRAF","BRCA1","BRCA2","BTD","BTK","BTNL2","C1QB","C1QC","C4A","C4B","C5","CACNA1G","CAMK2B","CARD11","CARD14","CARD9","CARMIL2","CARS1","CASP10","CASP8","CASR","CAST","CBL","CCBE1","CCDC47","CCR1","CD247","CD28","CD3D","CD3E","CD3G","CD40LG","CD79A","CD79B","CDH23","CDK10","CDSN","CERS3","CFI","CFTR","CHD7","CHST14","CHST8","CIB1","CIC","CIITA","CLDN1","CLEC7A","CLN3","CLPB","CLTRN","COL7A1","COMT","CORO1A","COX4I2","CR2","CST6","CSTA","CTLA4","CTNNB1","CTSB","CTSC","CYBA","CYBB","CYBC1","CYP11B1","CYP4F22","DCDC2","DCLRE1C","DDX41","DHCR7","DIP2B","DNAJC21","DNASE1","DNASE1L3","DNASE2","DOCK2","DOCK8","DOLK","DPP9","DSE","DSG1","DSG4","DSP","EBP","ECM1","EDA","EDAR","EDARADD","EFL1","EGFR","ELANE","ELF4","ELOVL4","ENPP1","EPAS1","EPB42","EPG5","EPHB4","EPOR","ERAP1","ERCC2","ERCC3","ERCC4","ERCC5","ESR1","ETS1","EXTL3","FAM111B","FAS","FAT4","FCGR2A","FCGR2B","FCGR3B","FDPS","FECH","FERMT1","FERMT3","FGA","FGFR2","FH","FLG","FLG2","FLI1","FLT4","FOCAD","FOXC2","FOXN1","FOXP1","FOXP3","G6PC3","GATA1","GATA3","GFI1","GGT1","GINS1","GJA1","GJB2","GJB3","GJB4","GJB6","GJC2","GNA11","GNAS","GNB2","GP1BB","GPNMB","GPR101","GPR35","GSN","GTF2E2","GTF2H5","H3-3B","H6PD","HDAC4","HIRA","HLA-B","HLA-C","HLA-DPA1","HLA-DPB1","HLA-DQA1","HLA-DQB1","HLA-DRA","HLA-DRB1","HLCS","HPGD","HSD3B7","HSPA9","HYOU1","IFIH1","IFNG","IFNGR1","IGHG1","IGHG2","IGHM","IGKC","IGLL1","IKBKB","IKBKG","IKZF3","IL10","IL10RA","IL10RB","IL12A","IL12A-AS1","IL12RB1","IL17F","IL17RA","IL17RC","IL1R1","IL1RN","IL21R","IL23R","IL2RA","IL2RG","IL31RA","IL36RN","IL4R","IL6","IL6R","IL6ST","IL7","IL7R","IPO8","IRAK1","IRF2BP2","IRF5","ITGA6","ITGAM","ITGB2","ITGB4","IVNS1ABP","JAK1","JAK2","JAK3","JAZF1","JMJD1C","KANSL1","KARS1","KDF1","KDSR","KIAA0319L","KIF11","KIF12","KIT","KLRC4","KNSTRN","KRT1","KRT10","KRT14","KRT17","KRT5","KRT74","LACC1","LAMA3","LAMB3","LAMC2","LBR","LCK","LCP2","LDHA","LEMD3","LGI3","LHCGR","LIG1","LIG4","LIPA","LIPN","LMBRD1","LPIN2","LRBA","LRP1","LRRC32","LRRC8A","LSM11","LSS","LYST","LYZ","MALT1","MBL2","MBTPS2","MC1R","MCCC2","MECP2","MED12","MEFV","MEIS2","MIA3","MIF","MMEL1","MMP1","MNX1","MORC2","MPDU1","MPEG1","MPL","MPLKIP","MRTFA","MS4A2","MSMO1","MSN","MST1","MTHFD1","MVD","MVK","MYD88","MYO5B","MYSM1","NAA10","NAE1","NAXD","NBEA","NCF1","NCF2","NCF4","NCKAP1L","NCSTN","NEK9","NFE2L2","NFKB1","NFKB2","NFKBIA","NIPAL4","NLRC4","NLRP12","NLRP3","NOD2","NR1H4","NR3C1","NRAS","NSMCE3","NSUN2","NUP107","OSMR","OTULIN","PAH","PAPSS2","PCCA","PCCB","PDCD1","PDGFRA","PEPD","PERP","PGM2L1","PGM3","PI4KA","PIEZO1","PIGA","PIK3CA","PIK3CD","PIK3CG","PIK3R1","PKHD1","PKP1","PLA2G7","PLCG2","PLEC","PMVK","PNPLA1","PNPLA2","POFUT1","POGLUT1","POLE","POLR3A","POMP","POU2AF1","PRDM12","PRF1","PRKACA","PRMT7","PRTN3","PSEN1","PSENEN","PSMB10","PSMB4","PSMB8","PSMB9","PSTPIP1","PTPN22","PTPN3","PTPRC","PXK","RAC1","RAG1","RAG2","RBCK1","RBM8A","RBP4","RELB","RFX5","RFX7","RFXANK","RFXAP","RIPK1","RIT1","RMRP","RNASEH2A","RNASEH2B","RNASEH2C","RNF113A","RNU12","RNU4ATAC","RNU7-1","RORC","RRAS2","RREB1","RTTN","RUNX1","SAMHD1","SASH3","SAT1","SBDS","SCN10A","SCN11A","SCN9A","SCNN1A","SCNN1B","SCNN1G","SDHA","SDHB","SDHC","SDR9C7","SEC24C","SEMA4D","SEMA7A","SH3PXD2B","SHANK3","SHOC2","SIK3","SIN3A","SLC17A9","SLC27A4","SLC29A3","SLC30A2","SLC39A4","SLC39A7","SLC4A1","SLC6A19","SLCO1B1","SLCO1B3","SLCO2A1","SLF2","SLURP1","SMARCA2","SMARCAD1","SMARCC2","SMG8","SP110","SPI1","SPIB","SPINK5","SPP1","SPTA1","SPTB","SRCAP","SRD5A3","SREBF1","SRP19","SRP54","SRSF2","ST14","STAT1","STAT3","STAT4","STAT5B","STING1","STK4","STX11","STX3","STXBP2","SULT2B1","SUOX","SYK","TAF1","TARS1","TBC1D2B","TBCK","TBX1","TCF3","TCF4","TCIRG1","TEK","TET2","TFRC","TGFB1","TGM1","TGM5","THPO","TJP2","TKT","TLR4","TLR7","TLR8","TMC6","TMC8","TNFAIP3","TNFRSF1A","TNFRSF1B","TNFSF15","TNFSF4","TNIP1","TNPO3","TOM1","TOP3A","TP53","TP63","TPR","TRAC","TRAF3IP2","TRAF6","TREX1","TRPM4","TRPV3","TTC7A","UBA1","UBAC2","UBE2A","UBE2L3","UFD1","UNC13D","UNC45A","UROD","UROS","USB1","USP48","USP53","USP8","VIPAS39","VPS33B","WAS","WDR1","WIPF1","WNT4","XIAP","XPNPEP2","XYLT1","ZAP70","ZFYVE19","ZNF341","ZNF750","ZNFX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_EPIDERMAL_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M37778","pmid":"","exactSource":"HP:0011124","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011124","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_EPIDERMAL_MORPHOLOGY","geneSymbols":["AAGAB","ABCC6","ADAM17","AKT1","ALOX12B","ALOXE3","ATP2A2","ATP2C1","CARD14","CARMIL2","CASP14","CAST","CDSN","CERS3","CHST8","CIB1","CLDN1","COL14A1","CSTA","CYP26C1","CYP4F22","DCAF17","DSC3","DSG1","DSP","EBP","ECM1","EGFR","ELOVL1","ELOVL4","ENPP1","EXPH5","FLG","FLG2","GJA1","GJB2","GJB3","GJB6","GNB2","GRHL2","HLA-B","IKZF1","IL1RN","IL2RA","IL36RN","IL7R","JUP","KDSR","KIF11","KIT","KRT1","KRT10","KRT13","KRT16","KRT2","KRT6C","KRT74","KRT9","LDHA","LIPN","LMNA","LORICRIN","LRBA","LRP1","MBTPS2","MPDU1","NIPAL4","NLRP1","NSDHL","OSMR","PERP","PKP1","POGLUT1","PPP2R3C","RASA1","RECQL","RIGI","RNF168","SAMHD1","SASH1","SERPINB7","SERPINB8","SLC27A4","SLURP1","SMARCAD1","SULT2B1","TGM1","TGM5","WNT10A","XYLT1","XYLT2","ZMPSTE24","ZNF750"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_DERMAL_MELANOSOMES":{"collection":"C5:HPO","systematicName":"M37779","pmid":"","exactSource":"HP:0011125","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011125","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_DERMAL_MELANOSOMES","geneSymbols":["AP3B1","AP3D1","CACNA1F","GPR143","LYST","MYO5A","RAB27A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CHRONIC_FURUNCULOSIS":{"collection":"C5:HPO","systematicName":"M46194","pmid":"","exactSource":"HP:0011132","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011132","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHRONIC_FURUNCULOSIS","geneSymbols":["CTSC","IL17RA","OTULIN","PSEN1","PSENEN"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INCREASED_SENSITIVITY_TO_IONIZING_RADIATION":{"collection":"C5:HPO","systematicName":"M37780","pmid":"","exactSource":"HP:0011133","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011133","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_SENSITIVITY_TO_IONIZING_RADIATION","geneSymbols":["AKT1","BAP1","MRE11","NF2","NSMCE3","PDGFB","PIK3CA","RNF168","SMARCB1","SMARCE1","SMO","SUFU","TERT","TRAF7"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LOW_GRADE_FEVER":{"collection":"C5:HPO","systematicName":"M43390","pmid":"","exactSource":"HP:0011134","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011134","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOW_GRADE_FEVER","geneSymbols":["ANKRD55","CALR","CD247","IL2RA","IL2RB","JAK2","MPL","PTPN2","PTPN22","STAT4","TET2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APLASIA_HYPOPLASIA_OF_THE_SWEAT_GLANDS":{"collection":"C5:HPO","systematicName":"M45442","pmid":"","exactSource":"HP:0011135","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011135","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_SWEAT_GLANDS","geneSymbols":["EDA","IKBKG","KDF1","LMNA","NFKBIA","NTRK1","TBX3","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_SKIN_ADNEXA_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M47176","pmid":"","exactSource":"HP:0011138","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011138","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_SKIN_ADNEXA_MORPHOLOGY","geneSymbols":["AAGAB","AARS1","AASS","ABCA1","ABCA12","ABCA2","ABCA5","ABCC9","ABCD1","ABHD5","ABL1","ACAN","ACD","ACER3","ACSL4","ACTB","ACTG1","ACTG2","ACTL6B","ACVR1","ACVRL1","ADA","ADA2","ADAM17","ADAMTS2","ADAMTS3","ADAMTSL2","ADARB1","ADAT3","ADNP","AEBP1","AFF3","AFF4","AGPAT2","AHCY","AHI1","AHSG","AIFM1","AIMP2","AIP","AIRE","AKT1","ALDH18A1","ALDH3A2","ALDH6A1","ALDOA","ALG11","ALG12","ALG3","ALG9","ALMS1","ALOX12B","ALOXE3","ALX1","ALX3","ALX4","AMMECR1","ANAPC1","ANGPT1","ANGPT2","ANKRD11","ANKRD17","ANOS1","ANTXR1","ANTXR2","AP1B1","AP1S3","AP2M1","AP3B1","AP3B2","AP3D1","APC","APC2","APCDD1","APOE","APTX","AR","ARHGAP31","ARHGEF2","ARID1A","ARID1B","ARID2","ARL13B","ARL3","ARL6","ARMC5","ARMC9","ARSB","ARX","ASH1L","ASL","ASPM","ASPRV1","ASXL1","ASXL2","ASXL3","ATAD3A","ATL1","ATM","ATP10A","ATP1A2","ATP1A3","ATP2A2","ATP2B1","ATP6V0A2","ATP6V1A","ATP6V1B2","ATP6V1E1","ATP7A","ATR","ATRIP","ATRX","AUTS2","AXIN2","AXL","B3GALT6","B3GAT3","B3GLCT","B4GALT7","B9D1","B9D2","BANF1","BANK1","BAP1","BAZ1B","BBIP1","BBS1","BBS10","BBS12","BBS2","BBS4","BBS5","BBS7","BBS9","BCAS3","BCL11B","BCL7B","BCOR","BCORL1","BCR","BCS1L","BGN","BHLHA9","BICRA","BLK","BLM","BLOC1S3","BLOC1S5","BMP1","BMP15","BMP2","BMP4","BMPER","BMPR1B","BNC1","BPTF","BRAF","BRCA1","BRCC3","BRD4","BRF1","BSCL2","BTD","BTK","BTNL2","BUD23","C12orf57","C18orf32","C3orf52","C4A","C4B","CACNA1A","CACNA1C","CACNA1F","CACNA1G","CAMK2A","CAMK2B","CAMK2G","CAMKMT","CAMTA1","CANT1","CAPN15","CARD14","CARS1","CASK","CASR","CAST","CASZ1","CAV1","CAVIN1","CBL","CBS","CBY1","CC2D2A","CCBE1","CCDC141","CCDC22","CCDC28B","CCDC32","CCDC47","CCDC8","CCNK","CD151","CD28","CD96","CDC42","CDC42BPB","CDC45","CDH1","CDH11","CDH2","CDH23","CDH3","CDIN1","CDK10","CDK13","CDK19","CDK4","CDK5","CDKL5","CDKN1C","CDKN2A","CDKN2B","CDON","CDSN","CEBPE","CENPE","CENPJ","CENPT","CEP104","CEP120","CEP152","CEP19","CEP290","CEP41","CEP57","CERS3","CERT1","CFAP418","CHD1","CHD2","CHD5","CHD7","CHD8","CHMP1A","CHN1","CHRNA7","CHRNG","CHST3","CHST8","CHSY1","CIT","CKAP2L","CLCN3","CLCN6","CLCN7","CLDN1","CLEC7A","CLIP2","CLMP","CLN3","CLP1","CNBP","CNOT2","CNOT3","CNP","COG4","COG5","COG6","COG7","COL11A1","COL11A2","COL14A1","COL17A1","COL18A1","COL1A2","COL25A1","COL3A1","COL7A1","COLEC10","COLEC11","COPB1","COX5A","COX7B","CPLANE1","CPLX1","CPOX","CPT2","CR2","CREBBP","CRIPT","CRKL","CSF1R","CSGALNACT1","CSNK2A1","CSPP1","CST6","CSTA","CSTB","CTBP1","CTC1","CTCF","CTDP1","CTLA4","CTNNB1","CTNND1","CTNS","CTSC","CTSK","CTU2","CUL4B","CUL7","CWC27","CWF19L1","CYB5A","CYB5R3","CYFIP2","CYP11B1","CYP17A1","CYP19A1","CYP4F22","DCAF17","DCLRE1B","DCLRE1C","DCT","DDB1","DDB2","DDX3X","DDX6","DEAF1","DENND5A","DHCR7","DHX30","DHX37","DICER1","DKC1","DLK1","DLL4","DLX3","DLX4","DMPK","DMRT3","DMXL2","DNA2","DNAJC21","DNAJC30","DNASE1","DNMT3A","DNMT3B","DOCK6","DOCK7","DOLK","DPAGT1","DPF2","DPH1","DPH2","DPH5","DPM1","DPM2","DPP9","DPYD","DPYSL5","DSC2","DSC3","DSG1","DSG2","DSG4","DSP","DST","DSTYK","DTNBP1","DUSP6","DUX4","DUX4L1","DVL1","DVL3","DYNC2LI1","EBF3","EBP","ECE1","ECEL1","ECM1","EDA","EDA2R","EDAR","EDARADD","EDEM3","EDN3","EDNRA","EDNRB","EED","EFNB1","EGFR","EHMT1","EIF4H","EIF5A","ELMO2","ELN","EMC1","EMC10","ENG","ENPP1","EOGT","EP300","EPG5","EPS8L3","ERCC2","ERCC3","ERCC4","ERCC5","ERCC6","ERCC8","ERLIN2","ERMARD","ESCO2","ESR1","ETS1","EVC","EVC2","EXOC8","EXOSC2","EXT1","EXT2","EZH2","FAM111B","FAM149B1","FAM20C","FAR1","FAS","FAT4","FBN1","FBXL4","FBXO11","FBXO28","FBXO31","FCGR2B","FCGR3B","FDFT1","FERMT1","FEZF1","FGD1","FGF10","FGF17","FGF3","FGF5","FGF8","FGF9","FGFR1","FGFR2","FGFR3","FGFRL1","FHL1","FIG4","FKBP6","FKRP","FLCN","FLI1","FLII","FLNA","FLNB","FLT4","FMR1","FOCAD","FOS","FOXA2","FOXC2","FOXE1","FOXG1","FOXL2","FOXN1","FOXP1","FOXP2","FOXP3","FRA10AC1","FRAS1","FREM1","FREM2","FRG1","FRMD4A","FRMPD4","FSHB","FSHR","FTL","FTO","FUCA1","FUT8","FZD2","FZD6","GABRA3","GABRD","GAD1","GAN","GATA1","GATA4","GATAD2B","GDF11","GDF3","GDF5","GDF6","GJA1","GJA5","GJA8","GJB2","GJB3","GJB4","GJB6","GJC2","GLB1","GLI1","GLI2","GLI3","GMPPA","GNA11","GNA14","GNAO1","GNAS","GNB2","GNE","GNPTAB","GNRH1","GNRHR","GNS","GON7","GORAB","GPC3","GPC4","GPR101","GPRASP2","GRHL2","GRIN1","GRIP1","GRM7","GSN","GTF2E2","GTF2H5","GTF2I","GTF2IRD1","GTF2IRD2","GTPBP2","GUSB","H1-4","H3-3A","H3-3B","H4C11","H4C5","H4C9","H6PD","HBA1","HBA2","HCCS","HDAC4","HDAC8","HEATR3","HECTD4","HECW2","HEPHL1","HERC1","HERC2","HESX1","HFE","HGD","HGSNAT","HHAT","HID1","HIVEP2","HLA-B","HLA-C","HLA-DQA1","HLA-DQB1","HLA-DRA","HLA-DRB1","HLCS","HMGA2","HNF1B","HNRNPH1","HNRNPH2","HNRNPK","HNRNPR","HNRNPU","HOXA13","HOXC13","HPD","HPDL","HPGD","HPS1","HPS3","HPS4","HPS5","HPS6","HR","HRAS","HRURF","HS2ST1","HS6ST1","HSD3B2","HSPA9","HSPG2","HTRA1","HUWE1","HYLS1","HYMAI","HYOU1","IARS2","IDS","IDUA","IFIH1","IFNG","IFT122","IFT140","IFT172","IFT27","IFT43","IFT52","IFT74","IGF1","IGF1R","IGF2","IGHG1","IHH","IKBKG","IL10","IL11RA","IL17F","IL17RA","IL17RC","IL1RAPL1","IL2RA","IL2RG","IL36RN","IL6ST","IL7R","INPP5E","INPPL1","INSR","INTS1","INTU","IPO8","IQSEC2","IRAK1","IRF5","IRF6","IRX5","ITGA3","ITGA6","ITGAM","ITGB4","ITGB6","ITPR2","JARID2","JAZF1","JUP","KANK2","KANSL1","KAT5","KAT6A","KAT6B","KATNB1","KATNIP","KCNA1","KCNAB2","KCNE5","KCNH1","KCNJ8","KCNK4","KCNK9","KCNMA1","KCNN3","KCTD1","KDF1","KDM1A","KDM4B","KDM5C","KDM6A","KDSR","KEAP1","KIAA0319L","KIAA0586","KIAA0753","KIF11","KIF15","KIF1A","KIF26A","KIF7","KIFBP","KISS1","KISS1R","KIT","KITLG","KLF13","KLHL24","KLLN","KMT2A","KMT2B","KMT2C","KMT2D","KMT5B","KNL1","KNSTRN","KRAS","KREMEN1","KRT1","KRT10","KRT14","KRT16","KRT17","KRT25","KRT5","KRT6A","KRT6B","KRT71","KRT74","KRT81","KRT83","KRT85","KRT86","KRT9","LAMA3","LAMB3","LAMC2","LAMTOR2","LARP7","LAS1L","LEMD3","LETM1","LHB","LHCGR","LHX4","LIFR","LIG4","LIMK1","LIPH","LIPN","LMBRD2","LMNA","LMNB1","LMNB2","LMX1B","LORICRIN","LPAR6","LRMDA","LRP1","LRP2","LRP4","LRPPRC","LSS","LTBP1","LTBP3","LTV1","LUZP1","LYST","LZTFL1","LZTR1","MAB21L1","MAB21L2","MACROH2A1","MAD1L1","MADD","MAF","MAFB","MAGEL2","MAN1B1","MAN2B1","MAN2C1","MAP1B","MAP2K1","MAP2K2","MAP3K1","MAP3K20","MAP3K7","MAPK1","MAPK8IP3","MAPKAPK5","MAPRE2","MARS1","MASP1","MBD5","MBTPS2","MC1R","MCCC2","MCTP2","MDM2","MECP2","MED12","MED12L","MED13","MED13L","MED25","MED27","MEF2C","MEG3","MEGF8","MEIS2","MEN1","MEOX1","MESD","METTL27","MGAT2","MGMT","MGP","MID1","MITF","MKKS","MKRN3","MKS1","MLH1","MLPH","MLXIPL","MMP1","MMP14","MMP2","MMP23B","MN1","MOGS","MPLKIP","MRAS","MRPS22","MSH2","MSH4","MSTO1","MSX1","MT-CO1","MT-CO2","MT-CO3","MT-ND1","MT-ND4","MT-ND5","MT-ND6","MT-TF","MT-TH","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TW","MTAP","MTHFS","MTOR","MTX2","MVK","MYH3","MYO18B","MYO5A","MYOF","NAA10","NAF1","NAGLU","NANS","NBAS","NBN","NCAPG2","NCF1","NDN","NDST1","NDUFA12","NDUFA6","NDUFAF6","NDUFB11","NECTIN1","NECTIN4","NEK1","NEK9","NELFA","NEPRO","NEU1","NEUROD2","NEXMIF","NF1","NFIB","NFIX","NFKB1","NFKB2","NFKBIA","NHLH2","NHP2","NIPAL4","NIPBL","NKX6-2","NLRP1","NMNAT1","NOG","NOP10","NOTCH1","NOTCH2","NOTCH3","NOVA2","NPAP1","NPHP1","NPM1","NPR2","NR0B1","NR2F1","NR3C1","NR5A1","NRAS","NRCAM","NSD1","NSD2","NSDHL","NSMF","NSRP1","NSUN2","NTRK1","NUDT2","NUP107","NUP188","NUP85","NUS1","NXN","OAT","OBSL1","OCA2","OCRL","ODC1","OFD1","OGT","ORC1","ORC6","OTUD5","OTUD6B","OTX2","P4HA2","PACS1","PACS2","PADI3","PAH","PAK2","PAPSS2","PARN","PAX3","PAX9","PCDHGC4","PCGF2","PCNT","PCSK1","PDCD1","PDCD6IP","PDE11A","PDE4D","PDE6D","PDGFRB","PDPN","PEPD","PERP","PEX1","PEX19","PEX2","PEX6","PEX7","PGAP1","PGAP2","PGAP3","PGM2L1","PHF6","PHF8","PHGDH","PHIP","PHYH","PI4KA","PIBF1","PIEZO1","PIGA","PIGB","PIGF","PIGG","PIGK","PIGL","PIGN","PIGO","PIGP","PIGQ","PIGS","PIGU","PIGV","PIGW","PIGY","PIK3C2A","PIK3CD","PIK3R1","PITX1","PKP1","PLAA","PLAG1","PLAGL1","PLCD1","PLEC","PLK4","PLOD3","PLXNA1","PNKP","PNPLA1","PNPLA6","POC1A","POFUT1","POGLUT1","POGZ","POLA1","POLR1B","POLR1C","POLR1D","POLR3A","POLR3H","POMC","POMP","POP1","POR","PORCN","POT1","POU1F1","PPARG","PPM1B","PPM1D","PPOX","PPP1CB","PPP1R15B","PPP1R21","PPP2R1A","PPP2R3C","PPP2R5D","PQBP1","PRDM13","PRDM16","PRDM5","PREPL","PRIM1","PRKACA","PRKACB","PRKAR1A","PRKCD","PRKCZ","PRKD1","PRKG2","PRMT7","PROK2","PROKR2","PROP1","PRPS1","PRR12","PRRX1","PSENEN","PSMB8","PSMC1","PSMC3","PSMC3IP","PSMD12","PTCH1","PTDSS1","PTEN","PTPN11","PTPN22","PTPRF","PUF60","PURA","PUS1","PUS7","PWAR1","PWRN1","PXK","PYCR1","PYCR2","RAB18","RAB27A","RAB3GAP1","RAB3GAP2","RAB7A","RAC1","RAC3","RAD21","RAF1","RAG1","RAG2","RAI1","RALA","RALGAPA1","RASA2","RBBP8","RBCK1","RBL2","RBM10","RBM28","RBPJ","RECQL","RECQL4","RERE","RET","RETREG1","RFC2","RHOA","RHOBTB2","RIN2","RIPK4","RIT1","RLIM","RMRP","RNF113A","RNF125","RNF13","RNF2","RNU12","RNU4ATAC","ROBO1","ROR2","RPA1","RPGRIP1L","RPL10","RPL11","RPL15","RPL18","RPL21","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS23","RPS24","RPS26","RPS27","RPS28","RPS29","RPS6KA3","RPS7","RRAS","RRAS2","RSPO1","RSPO4","RTEL1","RTL1","RUNX2","RUSC2","SALL4","SASH1","SAT1","SATB1","SATB2","SCAPER","SCARF2","SCLT1","SCN1A","SCN1B","SCN2A","SCN4A","SCN9A","SCNM1","SCO2","SCUBE3","SDCCAG8","SDR9C7","SEC23A","SEC23B","SEC31A","SEMA3E","SET","SETBP1","SETD1B","SETD2","SETD5","SF3B1","SF3B4","SGSH","SH2B1","SHANK3","SHMT2","SHOC2","SHOX","SHROOM4","SIAH1","SIK1","SIM1","SIN3A","SIN3B","SKI","SKIC2","SKIC3","SLC12A6","SLC17A5","SLC1A3","SLC1A4","SLC24A4","SLC24A5","SLC25A12","SLC25A22","SLC25A24","SLC27A4","SLC29A3","SLC2A1","SLC30A2","SLC30A9","SLC32A1","SLC35A2","SLC35C1","SLC35D1","SLC39A4","SLC3A1","SLC45A1","SLC45A2","SLC5A6","SLC6A1","SLC6A17","SLC6A9","SLC7A7","SLC9A6","SLC9A7","SLCO2A1","SLITRK1","SLURP1","SMAD4","SMARCA2","SMARCA4","SMARCAD1","SMARCAL1","SMARCB1","SMARCC2","SMARCD1","SMARCD2","SMARCE1","SMC1A","SMC3","SMCHD1","SMO","SMOC1","SMPD4","SMS","SNAI2","SNORD115-1","SNORD116-1","SNRPE","SNRPN","SNX10","SNX14","SON","SOS1","SOS2","SOST","SOX10","SOX11","SOX18","SOX3","SOX4","SOX6","SOX9","SPATA5","SPATA5L1","SPECC1L","SPEN","SPIDR","SPINK5","SPOP","SPP1","SPRED1","SPRED2","SPRTN","SPRY4","SPTBN1","SRA1","SRCAP","SRD5A2","SRD5A3","SREBF1","SRY","ST14","STAG1","STAG2","STAMBP","STAT3","STAT4","STIM1","STING1","STK11","STN1","STRADA","STT3A","STUB1","STX1A","STXBP1","SUCLA2","SUFU","SULT2B1","SUMF1","SUOX","SUPT16H","SUZ12","SVBP","SYNGAP1","SYT1","SZT2","TAC3","TACR3","TAF1","TAF6","TAFAZZIN","TALDO1","TARS1","TASP1","TAT","TBC1D20","TBC1D24","TBCD","TBCK","TBL1XR1","TBL2","TBX15","TBX2","TBX3","TBX4","TCF12","TCF4","TCHH","TCIRG1","TCOF1","TCTN1","TCTN2","TCTN3","TECPR2","TELO2","TENT5A","TERC","TERF2IP","TERT","TET2","TFAP2A","TFAP2B","TFE3","TGDS","TGM1","TGM3","TGM5","THOC6","THUMPD1","TIMM50","TINF2","TLK2","TLR7","TMCO1","TMEM138","TMEM147","TMEM216","TMEM218","TMEM222","TMEM231","TMEM237","TMEM270","TMEM67","TMEM94","TNFAIP3","TNFRSF1B","TNFSF11","TNFSF4","TNIP1","TOE1","TOGARAM1","TOPORS","TP53","TP63","TRAC","TRAF3IP2","TRAF6","TRAF7","TRAIP","TRAPPC10","TRAPPC9","TREX1","TRIM32","TRIM8","TRIO","TRMT1","TRMT10A","TRNT1","TRPM3","TRPS1","TRPV3","TRRAP","TSC1","TSC2","TSPAN7","TSPEAR","TSR2","TTC5","TTC7A","TTC8","TTI2","TUBB","TUBGCP2","TUBGCP4","TUBGCP6","TWIST1","TWIST2","TYMS","TYR","TYRP1","UBA2","UBE2A","UBE2L3","UBE3A","UBE3B","UBE4B","UBR1","UBR7","UFC1","UGDH","UGP2","UMPS","UQCC2","UQCRFS1","UROD","UROS","USB1","USP48","USP8","USP9X","VAC14","VAMP7","VARS1","VDR","VEGFC","VPS13B","VPS33A","VPS35L","VPS37A","VPS37D","VPS51","WAC","WARS1","WASHC4","WASHC5","WBP11","WDPCP","WDR11","WDR19","WDR26","WDR35","WDR45","WDR73","WDR81","WLS","WNK1","WNT10A","WNT10B","WNT4","WNT5A","WNT7A","WRAP53","WRN","WT1","WWOX","XPA","XPC","XRCC4","XYLT1","XYLT2","YARS2","YY1","ZBTB18","ZBTB20","ZC4H2","ZEB2","ZFHX4","ZFPM2","ZIC1","ZIC2","ZIC3","ZMPSTE24","ZMYM2","ZMYND11","ZNF141","ZNF292","ZNF341","ZNF407","ZNF423","ZNF462","ZNF469","ZNF699","ZNF711","ZNRF3","ZPR1","ZSWIM6","ZSWIM7"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SYMPTOMATIC_SEIZURES":{"collection":"C5:HPO","systematicName":"M37782","pmid":"","exactSource":"HP:0011145","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011145","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SYMPTOMATIC_SEIZURES","geneSymbols":["ABCC8","AKT2","CYP27B1","CYP2R1","FAM111A","GATA3","GCK","GCM2","GLUD1","GNAS","HADH","HNF1A","INSR","KCNJ11","MC2R","MRAP","NNT","PCSK1","POGZ","POMC","PROP1","PTH","SLC16A1","SLC25A36","SLC37A4","STAR","STX16","TANGO2","TBCE","TBX19","TNFRSF11A","TXNRD2","UCP2","VDR"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DIALEPTIC_SEIZURE":{"collection":"C5:HPO","systematicName":"M37783","pmid":"","exactSource":"HP:0011146","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011146","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DIALEPTIC_SEIZURE","geneSymbols":["ACSF3","ADGRG1","ADGRV1","ADNP","ADPRS","AFF3","AGO1","ALDH4A1","ALDH5A1","ALDH7A1","ALMS1","AP2M1","APC2","ARHGEF9","ARX","ASAH1","ATAD3A","ATP1A3","ATP6V0A1","ATP6V1B2","ATXN10","BRAT1","CACNA1A","CACNA1D","CACNA1H","CACNA2D1","CACNB4","CAMK2A","CAMK2B","CASK","CDH2","CDK13","CDKL5","CEP85L","CHD2","CIC","CILK1","CLCN2","CLCN4","CLN8","CLPB","CNOT1","CNPY3","CNTN2","CNTNAP2","COL3A1","CPA6","CRIPT","CSTB","CUX2","DEPDC5","DHDDS","DHFR","DMXL2","DNM1","DNM1L","DOCK7","DPM1","DPM3","DYRK1A","ECM1","EEF1A2","EFHC1","EHMT1","EPM2A","EZH2","FAR1","FBXO28","FGF13","FGFR3","FIG4","FMN2","FRRS1L","FZR1","GABBR2","GABRA1","GABRA3","GABRB3","GABRD","GABRG2","GAL","GAMT","GATAD2B","GDI1","GJA5","GJA8","GJC2","GLUD1","GNAI1","GNAO1","GNB1","GNB2","GOSR2","GPAA1","GPT2","GRIK2","GRIN1","GRIN2A","GRIN2B","GRM7","HCN1","HID1","HNRNPK","HNRNPU","HTT","ITPR1","JRK","KCNA1","KCNB1","KCNC2","KCNMA1","KCNQ2","KCNQ3","KCNQ5","KCNT1","KCNT2","KDM6A","KDM6B","KIF4A","KMT2D","KPTN","LAMA2","LAMC3","LGI1","LGI4","LRP5","MACF1","MAPK10","MAST3","MECP2","MEGF8","MICAL1","MTHFR","MTOR","MYT1L","NADK2","NBEA","NEDD4L","NEUROD2","NEXMIF","NFKB2","NGLY1","NHLRC1","NPRL2","NPRL3","NSD1","NTRK2","NUBPL","NUS1","OPHN1","PAFAH1B1","PAK3","PCDH19","PDE2A","PGAP1","PGAP2","PHGDH","PIGA","PIGM","PIGP","PIGQ","PIGT","PLCB1","PLPBP","PNKP","PNPLA8","POGZ","PPFIBP1","PPP2CA","PPP3CA","PRMT7","PRRT2","PTEN","RELN","RFX7","RNU12","RNU4ATAC","RORB","SATB1","SATB2","SCN1A","SCN1B","SCN2A","SCN3A","SCN8A","SCN9A","SETD1B","SETD2","SIK1","SLC12A5","SLC25A22","SLC2A1","SLC31A1","SLC32A1","SLC35A3","SLC6A1","SMARCA2","SMPD1","SON","SPATA5","SPATA5L1","SRPX2","STRADA","STX1B","STXBP1","SUPT16H","SYNGAP1","SZT2","TANGO2","TBC1D24","TBK1","TGFB1","TICAM1","TLR3","TRAF3","TRIM8","TRMT10A","TRPM3","TSC1","TSC2","TUBA1A","TUBB2B","TUBB3","UBE3A","UNC93B1","VPS11","VPS35L","WAC","WDR26","YWHAG","ZBTB18","ZEB2","ZNFX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_TYPICAL_ABSENCE_SEIZURE":{"collection":"C5:HPO","systematicName":"M41407","pmid":"","exactSource":"HP:0011147","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011147","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TYPICAL_ABSENCE_SEIZURE","geneSymbols":["ADGRG1","ADNP","ALDH4A1","ALDH7A1","ALMS1","ASAH1","CACNA1H","CACNB4","COL3A1","DPM1","DYRK1A","EEF1A2","FBXO28","FRRS1L","FZR1","GABRA1","GABRB3","GABRG2","GRIN1","GRIN2A","HNRNPK","JRK","PLPBP","PRMT7","PTEN","SATB2","SLC2A1","WAC"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MYOCLONIC_ABSENCE_SEIZURE":{"collection":"C5:HPO","systematicName":"M37784","pmid":"","exactSource":"HP:0011150","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011150","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MYOCLONIC_ABSENCE_SEIZURE","geneSymbols":["CACNA1H","DHDDS","FRRS1L","GABRA1","GABRB3","GABRG2","GRIN2A","JRK","KCNMA1","NADK2","SCN1A","SETD1B","SLC2A1","SYNGAP1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FOCAL_MOTOR_SEIZURE":{"collection":"C5:HPO","systematicName":"M37785","pmid":"","exactSource":"HP:0011153","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011153","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOCAL_MOTOR_SEIZURE","geneSymbols":["ADAM22","AKT3","ALDH7A1","AP3D1","ARX","ATP1A2","ATP1A3","ATXN10","BTD","CABP4","CACNA1A","CACNA1D","CACNA2D1","CAMTA1","CHRNA2","CHRNA4","CHRNB2","CLCN4","CLN5","CRH","CUX2","DEPDC5","DMXL2","DPAGT1","DPYD","EN1","ERMARD","EXTL3","FAR1","FRRS1L","FZR1","GABBR2","GABRA1","GABRG2","GLYCTK","GNAO1","GNB1","GRIA3","GRIN1","GRIN2A","HACE1","KANSL1","KCNK4","KCNQ2","KCNQ3","KCNT1","KCTD7","LAMC3","LGI1","MICAL1","MTOR","NDUFA2","NDUFAF6","NGLY1","NR4A2","PACS2","PAFAH1B1","PCDH12","PCDH19","PEX3","PIGA","PIK3CA","PLCB1","PLPBP","POLG","POU4F1","PPP3CA","PRRT2","PTPN23","PURA","PYCR2","RELN","SATB1","SCN1A","SCN1B","SCN2A","SCN8A","SCN9A","SDHA","SDHAF1","SDHB","SDHD","SIK1","SLC12A5","SLC1A2","SLC1A3","SLC25A22","SLC35A3","SMARCAL1","SMS","SNORD118","SRPX2","ST3GAL3","STXBP1","TBC1D24","TMEM231","UFSP2","WDR45B","YWHAG"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FOCAL_AUTONOMIC_SEIZURE":{"collection":"C5:HPO","systematicName":"M43392","pmid":"","exactSource":"HP:0011154","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011154","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOCAL_AUTONOMIC_SEIZURE","geneSymbols":["DEPDC5","GAL","KCNQ2","KCNQ3","KCNT1","LGI1","MICAL1","RELN"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FOCAL_SENSORY_SEIZURE":{"collection":"C5:HPO","systematicName":"M37786","pmid":"","exactSource":"HP:0011157","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011157","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOCAL_SENSORY_SEIZURE","geneSymbols":["ADGRG1","ATP1A2","CACNA1A","CNTN2","EPM2A","GAL","KCNA1","LGI1","MICAL1","NHLRC1","PCDH19","PI4KA","PRRT2","RELN","SCN1A","SRPX2","TREX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FOCAL_SENSORY_SEIZURE_WITH_VISUAL_FEATURES":{"collection":"C5:HPO","systematicName":"M43393","pmid":"","exactSource":"HP:0011165","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011165","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOCAL_SENSORY_SEIZURE_WITH_VISUAL_FEATURES","geneSymbols":["CNTN2","EPM2A","LGI1","MICAL1","NHLRC1","RELN"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FOCAL_MYOCLONIC_SEIZURE":{"collection":"C5:HPO","systematicName":"M37787","pmid":"","exactSource":"HP:0011166","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011166","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOCAL_MYOCLONIC_SEIZURE","geneSymbols":["ALDH7A1","AP3D1","CACNA1D","CAMTA1","CLN5","EXTL3","GRIN2A","HACE1","KCTD7","PLPBP","POLG","POU4F1","PYCR2","SATB1","SDHA","SDHAF1","SDHB","SDHD","SIK1","SLC25A22","TMEM231"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FOCAL_TONIC_SEIZURE":{"collection":"C5:HPO","systematicName":"M41408","pmid":"","exactSource":"HP:0011167","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011167","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOCAL_TONIC_SEIZURE","geneSymbols":["AKT3","CACNA1A","CLCN4","EN1","GNAO1","GRIA3","KCNQ2","KCNQ3","MTOR","NGLY1","PACS2","PIK3CA","PRRT2","PURA","SCN2A","SCN8A","SIK1","SLC1A2","SLC25A22","WDR45B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_GENERALIZED_CLONIC_SEIZURE":{"collection":"C5:HPO","systematicName":"M37788","pmid":"","exactSource":"HP:0011169","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011169","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENERALIZED_CLONIC_SEIZURE","geneSymbols":["ACSF3","ARX","CASK","CDKL5","DMXL2","DPM2","GABRA1","GABRG2","GNAO1","GRIN1","GRIN2A","GRM7","KCNA1","KCNQ2","KCNQ3","NEUROD2","PCDH19","PIGP","PIGQ","PNKP","PRRT2","PSAP","SATB1","SCN1A","SCN1B","SCN2A","SCN8A","SCN9A","SIK1","SLC25A22","SLC32A1","TRIM8"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_GENERALIZED_MYOCLONIC_ATONIC_SEIZURE":{"collection":"C5:HPO","systematicName":"M43394","pmid":"","exactSource":"HP:0011170","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011170","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENERALIZED_MYOCLONIC_ATONIC_SEIZURE","geneSymbols":["AP2M1","CAMTA1","CHD2","MED13","NEXMIF","OGDHL","SCN1A","SLC2A1","SLC6A1","SYNGAP1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SIMPLE_FEBRILE_SEIZURE":{"collection":"C5:HPO","systematicName":"M41409","pmid":"","exactSource":"HP:0011171","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011171","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SIMPLE_FEBRILE_SEIZURE","geneSymbols":["AASS","AP2M1","CHD2","CPLX1","DEPDC5","DYRK1A","KCNQ2","KCNQ3","NEXMIF","NPRL2","NPRL3","PRRT2","SCN1A","SCN2A","SCN3A","SCN8A","SEPSECS","SLC2A1","SLC6A1","SYNGAP1","TBC1D24","TSEN15","TSEN2","TSEN34","TSEN54","WAC"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_COMPLEX_FEBRILE_SEIZURE":{"collection":"C5:HPO","systematicName":"M37789","pmid":"","exactSource":"HP:0011172","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011172","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_COMPLEX_FEBRILE_SEIZURE","geneSymbols":["ADORA2A","ATP1A2","CACNA1A","COG4","FAR1","GABRA1","GABRG2","PCDH19","PDE2A","PRRT2","SCN1A","SCN1B","SCN2A","SCN8A","SCN9A","SLC25A12"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FOCAL_HYPERKINETIC_SEIZURE":{"collection":"C5:HPO","systematicName":"M47177","pmid":"","exactSource":"HP:0011174","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011174","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOCAL_HYPERKINETIC_SEIZURE","geneSymbols":["CABP4","CHRNA2","CHRNA4","CHRNB2","CRH","DEPDC5","KCNT1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_EEG_WITH_FOCAL_EPILEPTIFORM_DISCHARGES":{"collection":"C5:HPO","systematicName":"M37790","pmid":"","exactSource":"HP:0011185","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011185","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EEG_WITH_FOCAL_EPILEPTIFORM_DISCHARGES","geneSymbols":["ACTL6B","ADGRG1","ADK","AKT3","ALDH7A1","ALG1","AP2M1","ARFGEF1","ARHGEF9","ARX","ASPA","ATP1A2","ATP1A3","CABP4","CACNA1A","CACNA1G","CARS2","CASK","CDKL5","CHD2","CHRNA2","CHRNA4","CHRNB2","CLCN4","CLN5","CLTCL1","CNTNAP2","CPLX1","CRH","CUX2","DAG1","DEPDC5","DMXL2","DNM1","DOCK7","DOLK","DPYD","FGF12","FRRS1L","GABBR2","GABRA1","GABRB3","GABRG2","GNAO1","GNB1","GRIN1","GRIN2A","GRM7","HID1","IQSEC2","KANSL1","KCNA1","KCNMA1","KCNQ2","KCNQ3","KCNT1","KCTD7","LGI1","LONP1","LRPPRC","MAPK10","MECP2","MED13L","MTOR","MYD88","NEUROD2","NEXMIF","NPRL2","NPRL3","P4HTM","PCDH19","PDHA1","PI4KA","PIGA","PIGG","PIGP","PIGQ","PIGT","PIK3CA","PLCB1","PLPBP","PNKP","POLG","PPP3CA","PRPS1","PRRT2","PSAT1","RELN","RNF13","SATB1","SCN1A","SCN1B","SCN2A","SCN8A","SCN9A","SIK1","SLC12A5","SLC25A10","SLC25A22","SLC2A1","SLC32A1","SLC35A2","SLC6A1","SPATA5","SPTBN1","SRPX2","ST3GAL5","STXBP1","SUOX","SYNGAP1","SYT1","TBC1D24","TBC1D2B","TFE3","TRIM8","TUBB2A","UBE3A","YME1L1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_EEG_WITH_FOCAL_SPIKES":{"collection":"C5:HPO","systematicName":"M37791","pmid":"","exactSource":"HP:0011193","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011193","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EEG_WITH_FOCAL_SPIKES","geneSymbols":["ADGRG1","AKT3","ARHGEF9","CABP4","CHRNA2","CHRNA4","CHRNB2","CLCN4","CLN5","CNTNAP2","CRH","DEPDC5","GNB1","GRIN2A","KCNQ2","KCNT1","LONP1","MTOR","PDHA1","PI4KA","PIGG","PIK3CA","SCN2A","SRPX2","SYT1","TFE3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_EEG_WITH_FOCAL_SHARP_SLOW_WAVES":{"collection":"C5:HPO","systematicName":"M37792","pmid":"","exactSource":"HP:0011195","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011195","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EEG_WITH_FOCAL_SHARP_SLOW_WAVES","geneSymbols":["AKT3","CACNA1A","CHD2","CUX2","DNM1","GABRB3","GNB1","HID1","MAPK10","MTOR","PIK3CA","SCN1A","SPATA5"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_EEG_WITH_FOCAL_SHARP_WAVES":{"collection":"C5:HPO","systematicName":"M37793","pmid":"","exactSource":"HP:0011196","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011196","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EEG_WITH_FOCAL_SHARP_WAVES","geneSymbols":["ATP1A2","CACNA1A","GRIN2A","LONP1","PDHA1","PRRT2","PSAT1","SCN1A","SRPX2","SYT1","TBC1D24","YME1L1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_EEG_WITH_FOCAL_SPIKE_WAVES":{"collection":"C5:HPO","systematicName":"M37794","pmid":"","exactSource":"HP:0011197","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011197","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EEG_WITH_FOCAL_SPIKE_WAVES","geneSymbols":["AP2M1","CHD2","CPLX1","DAG1","FRRS1L","GABRG2","GRIN2A","IQSEC2","NEXMIF","SATB1","SCN1A","SLC2A1","SLC6A1","SRPX2","SYNGAP1","TBC1D24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_EEG_WITH_GENERALIZED_EPILEPTIFORM_DISCHARGES":{"collection":"C5:HPO","systematicName":"M46195","pmid":"","exactSource":"HP:0011198","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011198","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EEG_WITH_GENERALIZED_EPILEPTIFORM_DISCHARGES","geneSymbols":["AARS1","AASS","ABAT","ABCC8","ACTL6B","ADGRG1","ADGRV1","AGRN","AIMP2","AKT3","ALDH4A1","ALDH7A1","ALG11","ALG13","ALG14","ALG2","ALG3","AMT","AP2M1","AP3B2","APC2","ARFGEF1","ARFGEF2","ARV1","ARX","ASNS","ASPA","ATAD1","ATN1","ATP1A2","ATP1A3","ATP6V0A1","ATP6V1A","ATP7A","ATXN10","BRAT1","C1QBP","CACNA1A","CACNA1B","CACNA1E","CACNA1H","CACNA2D1","CACNB4","CAMSAP1","CASK","CCDC88A","CDK19","CDK5","CDKL5","CELF2","CHAT","CHD2","CILK1","CLCN2","CLN5","CLN8","CLTC","CNKSR2","CNPY3","CNTNAP2","COL13A1","COX4I1","CPA6","CPLX1","CSTB","CTNNA2","CUL3","CUX2","CYFIP2","D2HGDH","DALRD3","DCX","DEPDC5","DHDDS","DMXL2","DNM1","DNM2","DOCK7","DOLK","DPAGT1","DPM2","EEF1A2","EFHC1","EPM2A","ERMARD","EXOC8","FBXO28","FGF12","FGF13","FRRS1L","FZR1","GABBR2","GABRA1","GABRA2","GABRA5","GABRB1","GABRB2","GABRB3","GABRD","GABRG2","GAD1","GFM2","GLS","GLUD1","GLYCTK","GNAO1","GNB1","GNB5","GOLGA2","GOSR2","GRIN1","GRIN2A","GRIN2B","GRIN2D","GRM7","GRN","GUF1","HCFC1","HCN1","HIBCH","HID1","HMGCL","IARS2","IER3IP1","JRK","KCNA1","KCNA2","KCNB1","KCNC1","KCNC2","KCNJ11","KCNMA1","KCNQ2","KCNQ3","KCNT1","KCNT2","KIF1A","LONP1","MDH1","MED17","MFF","MGAT2","MOGS","MPDU1","MT-TL1","MTOR","MYO9A","NACC1","NARS2","NAXD","NDUFAF8","NECAP1","NEDD4L","NEUROD2","NEXMIF","NF1","NHLRC1","NPRL2","NPRL3","NSF","NTRK2","NUS1","OGDHL","PACS2","PAFAH1B1","PARS2","PCDH12","PCDH19","PDHA1","PGAP2","PGAP3","PHACTR1","PHGDH","PI4KA","PIDD1","PIGA","PIGL","PIGO","PIGP","PIGQ","PIGS","PIGT","PIGV","PIGW","PIGY","PIK3CA","PLAA","PLCB1","PLPBP","PNKP","PNPO","PPFIBP1","PPP3CA","PRICKLE1","PRKAG2","PRRT2","PSAT1","PTPN23","PTS","ROGDI","RUSC2","SAMD12","SATB1","SCARB2","SCN1A","SCN1B","SCN2A","SCN3A","SCN8A","SCN9A","SETBP1","SETD1B","SIK1","SLC12A5","SLC13A5","SLC18A3","SLC1A2","SLC1A4","SLC25A1","SLC25A22","SLC25A46","SLC2A1","SLC32A1","SLC35A2","SLC38A3","SLC39A8","SLC5A7","SLC6A1","SMC1A","SNAP25","SPATA5","SPTAN1","SPTBN1","SRPX2","ST3GAL3","STARD7","STX1B","STXBP1","SYNGAP1","SYNJ1","SYT1","SYT2","SZT2","TBC1D24","TBC1D2B","TBCK","TBL1XR1","TGFB1","TIMM50","TRAK1","TRAPPC12","TRIM8","TUBB2A","UBA5","UFC1","UGDH","UPB1","VAMP1","VARS2","WDR45","WWOX","YEATS2","YWHAG","ZNF148","ZNF526","ZNHIT3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_EEG_WITH_GENERALIZED_SHARP_SLOW_WAVES":{"collection":"C5:HPO","systematicName":"M41410","pmid":"","exactSource":"HP:0011199","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011199","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EEG_WITH_GENERALIZED_SHARP_SLOW_WAVES","geneSymbols":["ALDH4A1","ALDH7A1","ATP1A2","CACNA1A","LONP1","PDHA1","PIGT","PLPBP","PRRT2","SCN1A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_EEG_WITH_ABNORMALLY_SLOW_FREQUENCIES":{"collection":"C5:HPO","systematicName":"M37795","pmid":"","exactSource":"HP:0011203","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011203","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EEG_WITH_ABNORMALLY_SLOW_FREQUENCIES","geneSymbols":["AARS1","ACTL6B","ALDH7A1","AP2M1","AP3B2","ARV1","ATP1A2","ATP1A3","ATP6V1A","CACNA1A","CACNA1B","CACNA2D1","CDK19","CDKL5","CELF2","CHD2","CHMP2B","CLN5","CLN8","CLTC","CNKSR2","CNTNAP2","CYFIP2","CYP27A1","DALRD3","DHDDS","DNM1","DOLK","DPAGT1","EEF1A2","FBXO28","FGF12","FGF13","FZR1","GABBR2","GABRA2","GABRA5","GABRB2","GABRG2","GNB1","GRIA4","GRIN2A","GRIN2D","GRN","HCN1","HID1","KCNA2","KCNB1","KPTN","LMNB1","LRPPRC","MAPT","MECP2","MTHFS","NECAP1","NEXMIF","NTRK2","NUS1","OCA2","P4HTM","PACS2","PARS2","PIGY","PLP1","PLPBP","PPP3CA","PSEN1","RNF13","SCN1A","SCN3A","SCN8A","SLC13A5","SLC1A2","SLC2A1","SLC38A3","SLC6A1","SQSTM1","STXBP1","SYNGAP1","SYNJ1","SZT2","TMEM106B","TRAK1","TREM2","UBA5","UBE3A","VCP","WWOX","YWHAG"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_EEG_WITH_CONTINUOUS_SLOW_ACTIVITY":{"collection":"C5:HPO","systematicName":"M37796","pmid":"","exactSource":"HP:0011204","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011204","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EEG_WITH_CONTINUOUS_SLOW_ACTIVITY","geneSymbols":["CHMP2B","GRN","MAPT","PSEN1","SQSTM1","TMEM106B","TREM2","VCP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SHORT_FACE":{"collection":"C5:HPO","systematicName":"M37799","pmid":"","exactSource":"HP:0011219","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011219","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_FACE","geneSymbols":["AXIN2","EDA","EDARADD","FGFR1","GRHL3","IRF6","LRP6","MSX1","PAX9","POLR1B","POLR1C","POLR1D","RUNX2","SUMO1","TCOF1","TGFA","UBB","WNT10A","WNT10B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PROMINENT_FOREHEAD":{"collection":"C5:HPO","systematicName":"M37800","pmid":"","exactSource":"HP:0011220","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011220","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROMINENT_FOREHEAD","geneSymbols":["ABCC9","ACTL6B","ADAT3","ADNP","AGR2","ALDH18A1","ALX4","AMER1","AP1G1","AP1S2","AP2M1","APC2","ARCN1","ARNT2","ARX","ASXL1","ASXL3","ATIC","B3GALT6","B3GAT3","B3GLCT","BRAF","BRWD3","CA2","CAMK2B","CASK","CBFB","CCND2","CDC42","CDH2","CDKL5","CDKN1C","CEP57","CHD2","CHD3","CHST3","CKAP2L","CLCN3","CNOT3","COG4","COL18A1","COL27A1","COL2A1","CPT2","CREBBP","D2HGDH","DHCR24","DLK1","DPF2","DPH1","DPH2","DPH5","DPYD","DVL1","DVL3","DYNC1H1","EBF3","EDA","EDAR","EDARADD","EFEMP2","ELN","EP300","EPG5","ERF","ERMARD","EXOSC2","EXT2","FAM111A","FAM149B1","FAM50A","FARSB","FAT4","FBLN5","FBN1","FBXO31","FGFR1","FGFR2","FGFR3","FLNA","FLNB","FMR1","FOXC1","FOXP1","FUCA1","FZD2","GJA5","GJA8","GJB2","GJB6","GLE1","GNE","GNS","GOLGA2","GPAA1","GPC4","GRB10","H19","H3-3A","H3-3B","HECTD4","HECW2","HERC1","HESX1","HMGA2","HRAS","IARS2","IFT140","IFT81","IGF1","IGF2","IL2RA","IL6ST","INPP5E","INPPL1","IRX5","ITGA3","JARID2","KCNJ1","KDF1","KDM1A","KDM6B","KIAA0753","KIDINS220","KIF11","KIF7","KMT2A","KMT2D","KMT2E","KPTN","LARP7","LBR","LHX3","LHX4","LRP4","LRPPRC","MAB21L2","MAN2B1","MAPKAPK5","MARS2","MBTPS1","MED12","MED13L","MEG3","MEGF8","MID1","MN1","MTOR","MYH3","NAA10","NALCN","NANS","NEXMIF","NFIX","NPR2","NRAS","NSD1","NSD2","OBSL1","OPHN1","P4HTM","PAM16","PDGFRB","PEPD","PEX5","PIGK","PIGL","PIK3R1","PITX2","PKDCC","PLA2G6","PLAG1","PMM2","POC1A","POLR3A","POU1F1","PPP1CB","PPP2R5D","PRKDC","PRMT7","PROP1","PRPS1","PTDSS1","PTEN","PTH1R","PUF60","PURA","PYCR1","RAF1","RALA","RECQL4","RMRP","ROR2","RPS6KA3","RTL1","RYR1","RYR3","SATB2","SCN1A","SCYL2","SERPINH1","SETBP1","SETD2","SH3PXD2B","SHOC2","SIN3A","SKI","SKIC2","SKIC3","SLC2A1","SLC6A1","SMG9","SMOC1","SNX14","SON","SP7","SPECC1L","SRCAP","STAT3","STAT5B","SUMF1","SUZ12","SVBP","SYNGAP1","TAF1","TAPT1","TBCE","THSD1","TMEM147","TMEM53","TONSL","TRAF6","TRIP11","TRRAP","TTC7A","TWIST1","UBR7","UNC80","UPF3B","USP9X","VPS33A","VPS35L","WAC","WASHC4","WNT5A","ZBTB18","ZBTB20","ZBTB7A","ZNF292","ZNF711","ZPR1","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABLEPHARON":{"collection":"C5:HPO","systematicName":"M46196","pmid":"","exactSource":"HP:0011224","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011224","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABLEPHARON","geneSymbols":["PHGDH","POLR1A","PSAT1","RIPK4","TWIST2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_EPIBLEPHARON":{"collection":"C5:HPO","systematicName":"M47178","pmid":"","exactSource":"HP:0011225","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011225","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EPIBLEPHARON","geneSymbols":["KAT5","MTHFS","NCAPG2","TWIST2","YY1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APLASIA_HYPOPLASIA_OF_THE_EYELID":{"collection":"C5:HPO","systematicName":"M37801","pmid":"","exactSource":"HP:0011226","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011226","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_EYELID","geneSymbols":["ADAR","ADNP","ALX1","CCNQ","CDH11","CHD7","DHODH","EDNRA","EIF5A","ESCO2","FGFR1","FLI1","FRAS1","FREM1","FREM2","GRIP1","IFIH1","KCTD1","KRAS","LSM11","MAB21L2","PHGDH","POLR1A","POLR1B","POLR1C","POLR1D","PSAT1","RIPK4","RNASEH2A","RNASEH2B","RNASEH2C","RNU7-1","RPL26","SAMHD1","SEMA3E","SF3B2","SF3B4","SLC25A24","TCOF1","TREX1","TWIST1","TWIST2","TXNL4A","ZPR1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HORIZONTAL_EYEBROW":{"collection":"C5:HPO","systematicName":"M37803","pmid":"","exactSource":"HP:0011228","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011228","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HORIZONTAL_EYEBROW","geneSymbols":["ADAM17","CASZ1","CDK19","CNOT2","COL18A1","DDB1","DEAF1","DNMT3A","EBF3","EGFR","FOXP2","GABRD","GNB2","H4C5","HEATR3","HSPG2","INTS1","KCNAB2","KCNK4","LUZP1","MED13L","MMP23B","PDPN","PRDM16","PRKCZ","RALA","RALGAPA1","RERE","SKI","SPEN","SYT1","TRAPPC9","UBE4B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BROAD_EYEBROW":{"collection":"C5:HPO","systematicName":"M37804","pmid":"","exactSource":"HP:0011229","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011229","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BROAD_EYEBROW","geneSymbols":["BPTF","CHD1","CREBBP","DDB1","EIF5A","EP300","FRA10AC1","HERC1","KMT2A","MAF","MAN1B1","MAPK1","NEPRO","POLA1","POLR3A","PYCR2","RERE","SIN3A","SLC35C1","SON","SPATA5","SPTBN1","TRMT1","TTC5","ZEB2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PROMINENT_EYELASHES":{"collection":"C5:HPO","systematicName":"M43395","pmid":"","exactSource":"HP:0011231","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011231","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROMINENT_EYELASHES","geneSymbols":["ARID1A","ARID1B","ARID2","DPF2","KDM6A","KMT2D","LMNB1","PYCR2","RNU4ATAC","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SOX11","SOX4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MICROTIA_THIRD_DEGREE":{"collection":"C5:HPO","systematicName":"M37805","pmid":"","exactSource":"HP:0011267","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011267","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MICROTIA_THIRD_DEGREE","geneSymbols":["CDC45","CDC6","CDT1","FANCB","GMNN","ORC1","ORC4","ORC6","TCTN3","TWIST2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ANISOCYTOSIS":{"collection":"C5:HPO","systematicName":"M37806","pmid":"","exactSource":"HP:0011273","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011273","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANISOCYTOSIS","geneSymbols":["ATPAF2","CASK","CDAN1","CDIN1","G6PD","GATA1","GLRX5","HBB","KIF23","KLF1","NHLRC2","PKLR","RACGAP1","RHAG","RHCE","RHD","RPS14","TMPRSS6","TRNT1","UMPS","UROS"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RECURRENT_MYCOBACTERIAL_INFECTIONS":{"collection":"C5:HPO","systematicName":"M37807","pmid":"","exactSource":"HP:0011274","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011274","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_MYCOBACTERIAL_INFECTIONS","geneSymbols":["CCDC103","CCDC39","CCDC40","CCDC65","CCNO","CFAP221","CFAP298","CFAP300","CFAP74","CYBB","DCLRE1C","DNAAF1","DNAAF11","DNAAF2","DNAAF3","DNAAF4","DNAAF5","DNAAF6","DNAH1","DNAH11","DNAH5","DNAH9","DNAI1","DNAI2","DNAJB13","DNAL1","DRC1","FOXJ1","GAS2L2","GAS8","GATA2","HYDIN","IFNGR1","IFNGR2","IKBKG","IL12RB1","ISG15","LRRC56","MCIDAS","NEK10","NFKBIA","NME5","NME8","ODAD1","ODAD2","ODAD3","ODAD4","OFD1","RPGR","RSPH1","RSPH3","RSPH4A","RSPH9","SPAG1","SPEF2","STAT1","STK36","TTC12","TYK2","ZAP70","ZMYND10"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_VASCULAR_SKIN_ABNORMALITY":{"collection":"C5:HPO","systematicName":"M37808","pmid":"","exactSource":"HP:0011276","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011276","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VASCULAR_SKIN_ABNORMALITY","geneSymbols":["ABCC6","ABCC9","ABL1","ACP5","ACTA2","ACVRL1","ADA2","ADAM17","ADAMTS2","ADAR","ADGRE2","AEBP1","AGA","AGPAT2","AGXT","AIP","AKT1","AKT3","ALDH18A1","ALDH3A2","ALOX12B","ALOXE3","ALPK1","ANAPC1","ANGPT1","ANKRD26","ANTXR1","ANTXR2","AP1S1","APOE","AQP5","ARHGAP31","ARID1B","ARL6IP6","ARMC5","ARPC1B","ARPC4","ARVCF","ARX","ASXL1","ATM","ATP2C1","ATP6V0A2","ATP6V1A","ATP6V1E1","ATP7A","ATP7B","ATR","ATRX","B3GALT6","BANF1","BCOR","BGN","BLM","BLOC1S3","BLOC1S5","BMP2","BMPR2","BRAF","BRD4","BSCL2","C1QB","C1R","C1S","C2","C4A","CALR","CARMIL2","CASP10","CAST","CASZ1","CAV1","CAVIN1","CBL","CBS","CCM2","CCN2","CCR6","CD109","CD19","CD28","CD81","CDH23","CDKN1B","CFH","CFHR1","CFHR3","CHST14","CHST8","CIB1","CLCN7","CLEC7A","COG4","COG8","COL1A1","COL1A2","COL3A1","COL5A1","COL5A2","COL7A1","COMT","COX7B","CPN1","CR2","CREB3L1","CSTA","CTC1","CTLA4","CTNNB1","CTSA","CTSB","CYLD","DAXX","DCLRE1B","DDB2","DDR2","DDX11","DHCR7","DIAPH1","DKC1","DLL4","DNAJC30","DNASE1L3","DOCK6","DPM1","DPP9","DSE","DSG4","DSP","DST","DTNBP1","EGFR","ELMO2","ELN","ELOVL4","EMILIN1","ENG","ENPP1","EOGT","EPHB2","EPHB4","ERCC2","ERCC3","ERCC4","ERCC5","ERCC6","ETHE1","ETV6","F10","F12","F13A1","F13B","F2","F5","F7","F8","FANCA","FANCC","FANCD2","FANCE","FAS","FASLG","FBN1","FCGR2C","FECH","FERMT1","FERMT3","FGA","FGB","FGG","FIP1L1","FKBP10","FKBP14","FLNA","FLT4","FOS","FOXE3","FOXP3","FRG1","FTO","FUCA1","FYB1","FZD4","G6PC3","GABRD","GATA1","GATA2","GBA1","GCGR","GDF2","GFI1B","GGCX","GIMAP5","GJA1","GJA5","GJA8","GJB3","GJB4","GLA","GLB1","GLUL","GNA11","GNA14","GNAQ","GNAS","GNB2","GNPTAB","GP1BA","GP1BB","GP6","GP9","GPR35","GSN","GUCY1A1","H4C3","HBA1","HBA2","HCCS","HCK","HDAC8","HEATR3","HEY2","HFE","HIRA","HLA-B","HLA-DPA1","HLA-DPB1","HLA-DQB1","HLA-DRB1","HOXA11","HPGD","HPS1","HPS3","HPS4","HPS5","HPS6","HS3ST6","HSPG2","IARS2","ICOS","IFIH1","IFNG","IKBKG","IKZF1","IL12A","IL12RB1","IL17F","IL17RA","IL17RC","IL36RN","IL7","IPO8","IRF2BP2","IRF5","ITGA2","ITGA2B","ITGA3","ITGB3","JAK2","JAM2","JMJD1C","KCNAB2","KCNQ2","KDSR","KIAA0319L","KIT","KLLN","KNG1","KRAS","KRIT1","KRT1","KRT10","KRT14","KRT2","KRT5","KRT83","LARP7","LBR","LCP2","LEMD2","LIG1","LIG4","LIPN","LMAN1","LMNA","LMX1B","LORICRIN","LOX","LRP1","LRP5","LSM11","LUZP1","LYST","MANBA","MAP2K1","MAPK1","MASP1","MAT2A","MBTPS2","MCFD2","MEFV","MFAP5","MMEL1","MMP23B","MPL","MRE11","MS4A1","MST1","MT-ATP6","MT-CO1","MT-CO2","MT-CO3","MT-CYB","MT-ND1","MT-ND2","MT-ND4","MT-ND4L","MT-ND5","MT-ND6","MT-TF","MT-TH","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TW","MTAP","MVK","MYD88","MYH11","MYH9","MYLK","MYOF","MYORG","NABP1","NAGA","NAXD","NBEAL2","NBN","NDP","NDUFB11","NDUFS2","NEU1","NF1","NFIA","NFIX","NFKB1","NFKB2","NHP2","NIPBL","NLRC4","NLRP12","NLRP3","NOD2","NOP10","NOTCH1","NPM1","NR3C1","NSDHL","NSUN2","NTRK1","NUMA1","OCLN","ODC1","ORAI1","P2RY12","PARN","PCNA","PDCD10","PDE11A","PDGFB","PDGFRB","PDPN","PDSS1","PEPD","PERP","PEX6","PGAP2","PGAP3","PGM3","PIGL","PIGO","PIGV","PIGW","PIGY","PIK3CA","PIK3R1","PLAU","PLCG2","PLEC","PLG","PLOD1","PLOD3","PML","PNKP","POLA1","POLD1","POLE","POLH","POLR3A","PORCN","POU2AF1","PPARG","PPP1R15B","PRDM16","PRDM5","PRF1","PRKACA","PRKACG","PRKAR1A","PRKCD","PRKCZ","PRKG1","PROC","PROS1","PRTN3","PSMB8","PSMG2","PTDSS1","PTEN","PTPN11","PTPN22","PYCR1","RAB27A","RAC2","RAD21","RARA","RASA1","RASGRP1","RASGRP2","RBPJ","RECQL","RECQL4","RERE","RHOH","RIN2","RNASEH2A","RNASEH2B","RNASEH2C","RNF113A","RNF168","RNF213","RNU7-1","RPS6KA3","RREB1","RTEL1","RUNX1","SAMD9","SAMHD1","SASH1","SBDS","SCARB2","SCN10A","SCN11A","SCN9A","SDHB","SDHC","SDHD","SEC23B","SEC24C","SEMA4D","SERPINE1","SERPINF2","SERPING1","SETD2","SETX","SF3B4","SH2B3","SIK3","SKI","SLC20A2","SLC25A24","SLC27A4","SLC29A3","SLC2A10","SLC35A1","SLC37A4","SLC39A13","SLC39A4","SLC51A","SLFN14","SLURP1","SMAD2","SMAD3","SMAD4","SMC1A","SMC3","SNX10","SOS1","SOX18","SPEN","SPIB","SPINK5","SPRED2","SREBF1","SRSF2","STAG1","STAT3","STAT5B","STIM1","STING1","STN1","STX11","STXBP1","STXBP2","SULT2B1","SUPT16H","SYK","TALDO1","TBL1XR1","TBX1","TBXA2R","TCF4","TCIRG1","TERC","TERT","TET2","TFR2","TGFB2","TGFB3","TGFBR1","TGFBR2","TGM1","TGM5","THSD4","TINF2","TMC6","TMC8","TNFRSF13B","TNFRSF13C","TNFRSF1A","TNFRSF1B","TNFSF11","TNFSF12","TNFSF15","TNPO3","TNXB","TP53","TRAF3IP2","TREX1","TRPM4","TRPV3","TSPAN12","TYMS","UBE4B","UFD1","UNC13D","USB1","USF3","USP18","USP48","USP8","UVSSA","VEGFC","VPS53","VWF","WAS","WIPF1","WNT10A","WRAP53","WRN","XPA","XPC","XPNPEP2","XPR1","XRCC4","ZBTB16","ZMPSTE24","ZNF408","ZNF469"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_URINARY_SYSTEM_PHYSIOLOGY":{"collection":"C5:HPO","systematicName":"M37809","pmid":"","exactSource":"HP:0011277","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011277","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_URINARY_SYSTEM_PHYSIOLOGY","geneSymbols":["AASS","ABCA12","ABCC2","ABCC6","ABCC8","ABCD4","ACAD8","ACAD9","ACADM","ACADS","ACADSB","ACADVL","ACAT1","ACE","ACP5","ACSF3","ACSL4","ACTN4","ACVR1B","ACVRL1","ADA","ADA2","ADAMTS13","ADCY10","ADNP","AGA","AGGF1","AGK","AGT","AGTR1","AGXT","AGXT2","AHI1","AKR1D1","ALAD","ALDH18A1","ALDH4A1","ALDH5A1","ALDH6A1","ALDOA","ALDOB","ALG1","ALG5","ALG9","ALK","ALMS1","ALOX12B","ALOXE3","ALPL","AMMECR1","AMN","AMT","ANKFY1","ANKS6","ANLN","ANO5","AP1S3","AP2S1","APC","APC2","APOA1","APOE","APOL1","APPL1","APRT","AQP2","ARG1","ARHGAP24","ARHGDIA","ARL3","ARL6","ARNT2","ARSB","ARSK","ASL","ASPA","ASPH","ASPRV1","ASS1","ATAD3A","ATIC","ATP11C","ATP1A1","ATP5F1A","ATP5F1D","ATP5F1E","ATP5MK","ATP6V0A4","ATP6V1B1","ATP6V1B2","ATP7A","ATP7B","ATPAF1","ATPAF2","ATRX","AUH","AVIL","AVPR2","B2M","BANK1","BAZ1B","BBIP1","BBS1","BBS10","BBS12","BBS2","BBS4","BBS5","BBS7","BBS9","BCKDHA","BCKDHB","BCL7B","BCOR","BCR","BCS1L","BICC1","BLK","BLM","BLVRA","BNC2","BRCA1","BRCA2","BRD4","BRIP1","BSND","BTD","BTK","BTNL2","BUD23","C1QA","C1QBP","C3","C4A","C4B","CA2","CA5A","CACNA1S","CAD","CAMKMT","CASK","CASP10","CASR","CAV1","CBS","CC2D2A","CCN2","CCND1","CCNQ","CCR1","CCR6","CD109","CD151","CD2AP","CD320","CD46","CD59","CD81","CDC42BPB","CDC73","CDK4","CDKN1A","CDKN1B","CDKN1C","CDKN2A","CDKN2B","CDKN2C","CEL","CEP120","CEP164","CEP19","CEP290","CEP83","CFAP418","CFB","CFH","CFHR1","CFHR3","CFHR5","CFI","CFTR","CHD4","CHD7","CHRM3","CHRNA3","CHST14","CHUK","CIITA","CISD2","CLCN5","CLCNKA","CLCNKB","CLDN10","CLDN16","CLDN19","CLEC7A","CLIP2","CLPB","CLTRN","CNNM2","COA8","COG1","COG6","COL2A1","COL3A1","COL4A1","COL4A3","COL4A4","COL4A5","COL4A6","COL7A1","COPA","COQ2","COQ6","COQ8B","CORIN","COX14","COX16","CPOX","CPS1","CPT1A","CPT2","CR2","CRB2","CREBBP","CRKL","CRPPA","CSPP1","CTH","CTLA4","CTNNB1","CTNS","CUBN","CYB561","CYBC1","CYC1","CYP11A1","CYP11B1","CYP11B2","CYP21A2","CYP24A1","CYP27B1","CYP2R1","CYP4F22","D2HGDH","DAAM2","DACT1","DBH","DBT","DCDC2","DCLRE1C","DCXR","DDB2","DDOST","DGKE","DGUOK","DHDDS","DHTKD1","DHX37","DIS3L2","DLD","DLST","DMD","DMGDH","DMP1","DMRT3","DNAJB11","DNAJC19","DNAJC30","DNASE1","DNASE1L3","DNASE2","DNMT3A","DPH1","DPYD","DPYS","DSTYK","DYNC2H1","DYNC2I1","DYNC2I2","DYNC2LI1","DYRK1A","DZIP1L","EFEMP2","EHHADH","EHMT1","EIF2AK3","EIF4H","ELN","ELP1","EMP2","EN1","ENG","ENPP1","EP300","EPAS1","EPG5","ERAP1","ERBB2","ERCC2","ERCC3","ERCC4","ERCC5","ERCC6","ERCC8","ETFA","ETFB","ETFDH","ETHE1","ETS1","EXT1","EXT2","EYA1","F10","F2","F5","F8","FAH","FAM20A","FAN1","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FARS2","FARSB","FAS","FASLG","FBLN5","FBP1","FBXL4","FCGR2A","FCGR2B","FCGR3B","FDX2","FGA","FGF23","FGFR2","FH","FIG4","FIP1L1","FKBP6","FKRP","FLAD1","FLT1","FLVCR1","FMO3","FN1","FOCAD","FOXC2","FOXI1","FOXP2","FOXP3","FOXRED1","FTCD","FUCA1","FUZ","FXYD2","G6PC1","G6PC3","G6PD","GAA","GABRA3","GALE","GALK1","GALNS","GALNT3","GALT","GANAB","GAPVD1","GATA1","GATA3","GATA4","GATA6","GATM","GBA1","GCDH","GCK","GCLC","GCM2","GDF2","GEMIN4","GGT1","GK","GLA","GLB1","GLDC","GLIS2","GLUD1","GLYCTK","GNA11","GNAS","GNAS-AS1","GNE","GNPTAB","GNPTG","GNS","GON7","GP1BA","GP1BB","GP9","GPC3","GPHN","GPR35","GRHPR","GSN","GSS","GTF2I","GTF2IRD1","GTF2IRD2","GUCY2D","GUSB","GYS2","H19","HACE1","HADH","HADHA","HADHB","HAL","HBB","HCFC1","HDAC8","HELLPAR","HGD","HGSNAT","HIBCH","HIC1","HLA-B","HLA-DPA1","HLA-DPB1","HLA-DRB1","HLCS","HMBS","HMGA2","HMGCL","HMOX1","HNF1A","HNF1B","HNF4A","HNRNPK","HOGA1","HOXA13","HPD","HPRT1","HPS1","HPSE2","HRAS","HSD11B2","HSD17B10","HSD3B2","HSPA9","HSPD1","HTRA2","IBA57","IDH1","IDH2","IDS","IDUA","IER3IP1","IFIH1","IFNG","IFNGR1","IFT122","IFT140","IFT172","IFT27","IFT43","IFT74","IFT80","IGHG1","IGHG2","IGKC","IKZF1","IL10","IL12A","IL12A-AS1","IL17F","IL17RA","IL17RC","IL1B","IL1RN","IL23R","IL2RB","IL2RG","IL36RN","IL6","IL7R","INF2","INPP5E","INPPL1","INS","INSR","INVS","IQCB1","IRAK1","IRF1","IRF2BP2","IRF5","ISCU","ISL1","ITGA2","ITGA2B","ITGA3","ITGA6","ITGA8","ITGAM","ITGB3","ITGB4","ITPR3","IVD","JAG1","JAK1","JAZF1","KANK2","KANSL1","KARS1","KAT5","KAT6A","KCNE5","KCNJ1","KCNJ10","KCNJ11","KCNJ16","KCNJ18","KCNJ2","KCNJ5","KCTD1","KHK","KIAA0319L","KIAA0586","KIAA0753","KIF1B","KIF23","KIRREL1","KL","KLF11","KLF6","KLRC4","KNSTRN","KRAS","KRT18","KYNU","L2HGDH","LAGE3","LAMA3","LAMA5","LAMB2","LAMB3","LAMC2","LARS2","LCAT","LDHA","LDHD","LETM1","LHX1","LIG4","LIMK1","LIN28B","LIPN","LIPT1","LMAN1","LMBRD1","LMNA","LMNB1","LMNB2","LMO1","LMX1B","LPIN1","LPIN2","LRIG2","LRP2","LRPPRC","LTBP1","LYRM4","LYZ","LZTFL1","MAD2L2","MAF","MAFB","MAGED2","MAGI2","MAN2B1","MANBA","MAP3K1","MAPK1","MAPKBP1","MARS1","MAX","MC2R","MCCC1","MCCC2","MCEE","MCFD2","MDH2","MDM2","MECP2","MED12","MEFV","MEN1","METTL27","MIA3","MICOS13","MINPP1","MKKS","MKS1","MLIP","MLXIPL","MLYCD","MMAA","MMAB","MMACHC","MMADHC","MME","MMP1","MMUT","MNX1","MOCOS","MOCS1","MOCS2","MPC1","MPI","MRAP","MRPS2","MSN","MST1","MT-ATP6","MT-ATP8","MT-CO1","MT-CO2","MT-CO3","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND5","MT-ND6","MT-TE","MT-TF","MT-TH","MT-TK","MT-TL1","MT-TN","MT-TQ","MT-TS1","MT-TS2","MT-TT","MT-TV","MT-TW","MTHFR","MTR","MTRR","MTX2","MUC1","MUTYH","MVK","MYCN","MYD88","MYH11","MYH9","MYL9","MYO1E","MYO5B","MYOCD","NABP1","NADK2","NAE1","NAGA","NAGLU","NBN","NCF1","NDUFA1","NDUFA11","NDUFA6","NDUFA9","NDUFAF1","NDUFAF2","NDUFAF3","NDUFAF4","NDUFAF5","NDUFAF6","NDUFAF8","NDUFB10","NDUFB11","NDUFB3","NDUFB9","NDUFS1","NDUFS2","NDUFS3","NDUFS4","NDUFS6","NDUFS7","NDUFS8","NDUFV1","NDUFV2","NEK8","NEU1","NEUROD1","NEXMIF","NF1","NFS1","NFU1","NGLY1","NHERF1","NIPAL4","NIPBL","NLRP3","NNT","NOD2","NOS1AP","NOS3","NOTCH2","NPHP1","NPHP3","NPHP4","NPHS1","NPHS2","NPM1","NPR2","NR0B1","NR5A1","NRAS","NSD1","NSMCE2","NT5C3A","NTRK1","NUBPL","NUMA1","NUP107","NUP133","NUP160","NUP205","NUP37","NUP85","NUP93","OAT","OBSCN","OCLN","OCRL","OFD1","OGDH","OPA3","OPLAH","OSGEP","OTC","OXCT1","OXGR1","P4HA2","PAFAH1B1","PAH","PALB2","PAX2","PAX4","PAX6","PBX1","PC","PCBD1","PCCA","PCCB","PCK1","PDCD1","PDP1","PDSS2","PDX1","PEPD","PET100","PET117","PEX1","PEX14","PEX19","PEX5","PEX7","PFKM","PGAM2","PGK1","PGM2L1","PGM3","PHEX","PHKA1","PHKA2","PHKB","PHKG2","PHOX2B","PHYH","PHYKPL","PIEZO1","PIGA","PIGB","PIGT","PIK3C2A","PIK3CA","PIK3CD","PIK3CG","PKD1","PKD2","PKDCC","PKHD1","PLCE1","PLG","PLOD1","PLOD2","PLVAP","PML","PMM2","PNP","PNPLA6","POLG","POLR3A","POLR3GL","POLRMT","POU6F2","PPM1B","PPOX","PRDX1","PREPL","PRF1","PRKAR1A","PRKCD","PRMT7","PRODH","PRPS1","PRTN3","PSTPIP1","PTH1R","PTPN22","PTPRO","PUS3","PXK","PYGL","PYGM","RAD21","RAD51","RAD51C","RAG1","RAG2","RARA","RASA1","RASGRP1","RELB","REN","REST","RET","RFC2","RFWD3","RFX5","RFXANK","RFXAP","RMND1","RMRP","RNU7-1","ROBO1","RPGRIP1L","RPIA","RRAGD","RRM2B","RYR1","SAA1","SALL1","SAMD9","SARDH","SARS2","SAT1","SATB1","SCAPER","SCARB2","SCLT1","SCNN1A","SCNN1B","SCNN1G","SCO1","SDCCAG8","SDHA","SDHAF2","SDHB","SDHC","SDHD","SDR9C7","SEC61A1","SEMA4D","SERAC1","SERPINA1","SERPINA6","SERPINF2","SETD2","SFXN4","SGCB","SGPL1","SGSH","SH2B1","SHANK3","SHPK","SIX1","SIX5","SKIC3","SLC12A1","SLC12A3","SLC13A3","SLC16A1","SLC16A12","SLC17A5","SLC18A2","SLC19A2","SLC1A1","SLC22A12","SLC22A5","SLC25A1","SLC25A11","SLC25A13","SLC25A15","SLC25A19","SLC25A20","SLC25A21","SLC25A4","SLC26A1","SLC26A4","SLC28A1","SLC2A2","SLC2A9","SLC30A9","SLC34A1","SLC34A2","SLC34A3","SLC35A1","SLC35A2","SLC35C1","SLC36A2","SLC37A4","SLC3A1","SLC41A1","SLC46A1","SLC4A1","SLC4A2","SLC4A4","SLC52A1","SLC52A2","SLC5A1","SLC5A2","SLC6A18","SLC6A19","SLC6A2","SLC6A20","SLC7A7","SLC7A9","SLCO1B1","SLCO1B3","SLCO2A1","SLX4","SMAD4","SMARCA2","SMARCAL1","SMC1A","SMC3","SNAP29","SNX14","SOCS1","SON","SOX17","SOX18","SOX9","SPINK5","SPP1","SPRY2","SPTBN1","SRCAP","SREBF1","SRY","STAR","STAT1","STAT2","STAT3","STAT4","STAT5B","STIM1","STK11","STOX1","STS","STX11","STX16","STX1A","STX3","STXBP2","SUCLA2","SUCLG1","SUGCT","SULT2B1","SUMF1","SUOX","SURF1","TAFAZZIN","TANGO2","TAOK1","TAT","TBC1D24","TBC1D8B","TBL1XR1","TBL2","TBX1","TBX18","TCF4","TCN2","TDO2","TERT","TFAM","TGFB1","TGM1","THBD","THOC6","TIMM50","TIMMDC1","TK2","TKT","TLR4","TLR7","TMEM126B","TMEM127","TMEM138","TMEM165","TMEM216","TMEM231","TMEM237","TMEM260","TMEM270","TMEM67","TMEM70","TNFAIP3","TNFRSF11A","TNFRSF11B","TNFSF4","TNIP1","TNXB","TOM1","TOP2A","TP53","TP53RK","TP63","TPK1","TPRKB","TRAF3IP1","TRAF3IP2","TRAIP","TREX1","TRIM28","TRIM32","TRIM8","TRIP13","TRMT5","TRMU","TRNT1","TRPC6","TRPS1","TRPV4","TRPV6","TSC1","TSC2","TTC21B","TTC26","TTC8","TTR","TXNRD2","UBAC2","UBE2L3","UBE2T","UMOD","UMPS","UNC13D","UNC45A","UQCC2","UQCRB","UROC1","UROD","UROS","VAC14","VAMP7","VANGL1","VHL","VIPAS39","VPS33A","VPS33B","VPS37D","VPS50","WAS","WASF1","WDPCP","WDR19","WDR35","WDR4","WDR73","WFS1","WIPF1","WT1","WWOX","XDH","XPA","XPC","XPNPEP3","XRCC2","XYLT1","XYLT2","YAP1","YRDC","YWHAE","YY1AP1","ZAP70","ZBTB16","ZFPM2","ZMPSTE24","ZNF423","ZNF592","ZNF699","ZNFX1","ZNRF3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_URINE_BICARBONATE_LEVEL":{"collection":"C5:HPO","systematicName":"M47179","pmid":"","exactSource":"HP:0011279","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011279","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_URINE_BICARBONATE_LEVEL","geneSymbols":["ALDOB","EHHADH","GATM","NDUFAF6","OCRL","SLC34A1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_URINE_CALCIUM_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M37810","pmid":"","exactSource":"HP:0011280","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011280","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_URINE_CALCIUM_CONCENTRATION","geneSymbols":["ADCY10","ALPL","AMMECR1","AP2S1","ATP6V0A4","ATP7B","BAZ1B","BCL7B","BSND","BTNL2","BUD23","CASR","CDC73","CDKN1A","CDKN1B","CDKN1C","CDKN2B","CDKN2C","CFTR","CLCN5","CLCNKA","CLCNKB","CLDN10","CLDN16","CLDN19","CLIP2","CYP24A1","DNAJC30","EHHADH","EIF4H","ELN","FAM20A","FCGR2A","FGF23","FKBP6","FXYD2","GATM","GCM2","GNA11","GTF2I","GTF2IRD1","GTF2IRD2","HLA-DRB1","HNF1B","INSR","KCNJ1","KCNJ10","KCNJ5","LIMK1","MAGED2","MEN1","METTL27","MLXIPL","NCF1","NDUFAF6","OCRL","PHEX","PIGT","PIK3C2A","PTH1R","RFC2","SLC12A1","SLC12A3","SLC22A12","SLC2A2","SLC2A9","SLC34A1","SLC34A3","STX1A","TBL2","TGFB1","TMEM270","TNFRSF11B","VPS37D"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_METENCEPHALON_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M47180","pmid":"","exactSource":"HP:0011283","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011283","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_METENCEPHALON_MORPHOLOGY","geneSymbols":["AARS1","AARS2","ABAT","ABCD1","ABHD12","ACD","ACO2","ACTL6B","ACY1","ADGRG1","ADGRV1","ADPRS","ADSL","AFF3","AFG3L2","AGTPBP1","AHCY","AHDC1","AHI1","AIMP2","AIPL1","AKT1","ALDH18A1","ALDH5A1","ALG1","ALG12","ALG3","ALG6","ALG9","ALS2","ALX4","AMPD2","ANO10","AP1S2","AP3B2","AP4B1","AP4E1","AP4M1","AP4S1","APC2","APTX","ARCN1","ARF1","ARG1","ARHGEF2","ARID1A","ARID1B","ARID2","ARL13B","ARL3","ARMC9","ARNT2","ARSI","ARX","ASNS","ASPM","ASXL1","ASXL3","ATAD3A","ATCAY","ATG5","ATG7","ATN1","ATP13A2","ATP1A2","ATP1A3","ATP2B3","ATP5F1A","ATP5F1D","ATP5F1E","ATP5MK","ATP6AP2","ATP6V0A1","ATP6V0A2","ATP6V1A","ATP6V1B2","ATP6V1E1","ATP8A2","ATP9A","ATPAF1","ATPAF2","ATR","ATXN1","ATXN10","ATXN2","ATXN3","ATXN7","ATXN8OS","B3GALNT2","B4GALNT1","B4GALT1","B4GAT1","B9D1","B9D2","BAP1","BAZ1B","BCAP31","BCAS3","BCL11A","BCL7B","BCOR","BCORL1","BCS1L","BEAN1","BICD2","BICRA","BLTP1","BMP4","BRAT1","BRD4","BRF1","BTD","BUB1","BUB1B","BUB3","BUD23","C19orf12","C2CD3","CACNA1A","CACNA1G","CACNA2D2","CAMK2B","CAMLG","CAMSAP1","CAMTA1","CARS1","CARS2","CASK","CBY1","CC2D2A","CCDC22","CCDC32","CCDC47","CCDC88A","CCDC88C","CCND1","CDC40","CDC42","CDC42BPB","CDC45","CDH23","CDK5","CDKL5","CDKN1C","CDON","CENPE","CENPF","CEP104","CEP120","CEP164","CEP290","CEP41","CEP55","CEP57","CEP85L","CERS1","CHD4","CHD7","CHMP1A","CHP1","CIB2","CILK1","CIT","CIZ1","CKAP2L","CLCN3","CLCN7","CLIP2","CLN3","CLN5","CLN8","CLPB","CLTC","CNP","CNTNAP1","CNTNAP2","COA7","COASY","COG1","COG5","COG6","COG7","COG8","COL18A1","COL3A1","COL4A1","COQ2","COQ4","COQ5","COQ8A","COQ9","COX20","COX4I1","CP","CPLANE1","CPLX1","CPSF3","CPT2","CRAT","CRB1","CREBBP","CRPPA","CRX","CSF1R","CSPP1","CTBP1","CTNNA2","CTSD","CTSF","CTSK","CUL4B","CUX2","CWC27","CWF19L1","CYB5A","CYB5R3","CYFIP2","CYP27A1","CYP7B1","DAB1","DACT1","DAG1","DARS2","DCC","DCHS1","DCLRE1B","DDX3X","DEGS1","DENND5A","DHCR7","DHDDS","DHFR","DHX30","DHX37","DISC1","DISP1","DKC1","DKK1","DLG4","DLL1","DMXL2","DNAJC3","DNAJC30","DNAJC5","DNM1L","DNMT1","DNMT3A","DOCK6","DOCK7","DOHH","DOK7","DPAGT1","DPF2","DPH1","DPH2","DPH5","DPM1","DPM2","DPYSL5","DYNC1H1","DYNC2H1","DYNC2I1","DYNC2I2","EBF3","EBP","EEF2","EHMT1","EIF4H","ELN","ELOVL4","ELOVL5","EMC1","EN1","EOMES","EP300","EPG5","EPRS1","ERCC1","ERCC2","ERCC3","ERCC5","ERCC6","ERCC8","ERF","ERLIN1","ERMARD","ESCO2","ESPN","EVC","EVC2","EXOC2","EXOC7","EXOSC1","EXOSC2","EXOSC3","EXOSC5","EXOSC8","EXOSC9","EZH2","FA2H","FAM149B1","FANCB","FANCI","FANCL","FAR1","FARS2","FAT2","FAT4","FBN1","FBXL4","FCSK","FDXR","FGF12","FGF14","FGF8","FGFR1","FGFR2","FGFR3","FIG4","FKBP6","FKRP","FKTN","FLI1","FLNA","FLVCR2","FMR1","FOXC1","FOXF1","FOXH1","FOXRED1","FRMD4A","FRRS1L","FTL","FTO","FUS","FUZ","GAD1","GALC","GAN","GAS1","GBA2","GDAP2","GDF6","GEMIN4","GEMIN5","GFAP","GFM2","GJA1","GJB1","GJB2","GJB6","GLI2","GLI3","GLS","GMPPB","GNAO1","GNAQ","GNS","GON7","GOT2","GPAA1","GPC3","GPC4","GPHN","GPKOW","GPSM2","GPX4","GRIA2","GRIA3","GRID2","GRIK2","GRIN1","GRM1","GRM7","GRN","GTF2E2","GTF2H5","GTF2I","GTF2IRD1","GTF2IRD2","GTPBP2","GUCY2D","H3-3A","HDAC4","HDAC6","HDAC8","HEPACAM","HERC1","HES7","HESX1","HEXB","HHAT","HK1","HLA-DQB1","HMGA2","HNRNPH1","HNRNPH2","HNRNPR","HRAS","HSD17B4","HTT","HYCC1","HYLS1","IBA57","IDH1","IER3IP1","IFIH1","IFRD1","IFT140","IFT172","IFT74","IFT80","IGF2","IL11RA","IMPDH1","INPP5E","INPP5K","INTS1","INTS8","IQCB1","IRF2BPL","ITPR1","JAM2","JAM3","KANSL1","KARS1","KAT5","KATNB1","KATNIP","KCNA1","KCNC1","KCNC3","KCND3","KCNJ10","KCNJ13","KCNMA1","KCNQ1","KCNQ1OT1","KCTD7","KDM1A","KIAA0586","KIAA0753","KIDINS220","KIF14","KIF1A","KIF1C","KIF21A","KIF5A","KIF7","KLLN","KMT2C","KNL1","KPNA3","KRAS","KY","L1CAM","L2HGDH","LAGE3","LAMA1","LAMA2","LAMB1","LARGE1","LCA5","LEMD3","LETM1","LHX3","LHX4","LIG3","LIMK1","LIPT1","LMNB1","LMX1B","LNPK","LONP1","LRAT","LRPPRC","LRRC32","LYRM7","LYST","MAB21L1","MACF1","MAF","MAG","MAN1B1","MAN2B1","MAN2C1","MAP2K2","MAP3K7","MAPK8IP3","MAPKAPK5","MARS2","MAST1","MBD5","MBTPS2","MCOLN1","MDH1","MDH2","MECR","MED11","MED12","MED23","MED27","MEF2C","METTL27","MFF","MFSD2A","MFSD8","MGAT2","MGME1","MICOS13","MICU1","MID1","MINPP1","MKS1","MLXIPL","MME","MORC2","MPL","MPLKIP","MRE11","MRM2","MRPS34","MSTO1","MT-ATP6","MT-ATP8","MT-CYB","MT-TE","MT-TK","MT-TL1","MTHFR","MTHFS","MTM1","MUSK","MVK","MYH3","MYMK","MYMX","MYO5A","MYO7A","MYOD1","NADK2","NAGA","NALCN","NARS2","NAXE","NCAPG2","NCF1","NDE1","NDP","NDUFA1","NDUFA13","NDUFA6","NDUFA8","NDUFA9","NDUFAF4","NDUFS1","NDUFS4","NEK1","NELFA","NEUROD2","NF2","NFASC","NFIA","NFIX","NFKB2","NGLY1","NIPBL","NKX6-2","NMNAT1","NODAL","NONO","NOP56","NOTCH2","NOTCH2NLC","NOTCH3","NOVA2","NPHP1","NPHP3","NPTX1","NRAS","NSD1","NSD2","NSRP1","NUBPL","NUP133","NUP214","NUP37","NUP88","OCLN","ODC1","OFD1","OPA1","OPA3","OPHN1","OSGEP","OTUD5","OTX2","OXR1","PACS1","PACS2","PAFAH1B1","PARN","PAX2","PCDH15","PCGF2","PCLO","PCNA","PCYT1A","PDCD6IP","PDE6D","PDGFB","PDGFRB","PDHA1","PDHB","PDHX","PDYN","PDZD7","PEX10","PEX16","PEX2","PEX6","PGAP1","PGAP2","PHEX","PHGDH","PI4KA","PIBF1","PIEZO2","PIGA","PIGG","PIGK","PIGN","PIGP","PIGQ","PIGS","PIGT","PIGU","PIK3CA","PIK3R5","PITRM1","PLA2G6","PLAA","PLCH1","PLD3","PLG","PLK4","PLP1","PMM2","PMPCA","PMPCB","PNKP","PNPLA6","PNPT1","POGZ","POLA1","POLG","POLG2","POLR1C","POLR3A","POLR3B","POLR3K","POMGNT1","POMGNT2","POMK","POMT1","POMT2","POR","PORCN","POU1F1","POU4F1","PPFIBP1","PPIL1","PPP1CB","PPP1R12A","PPP1R15B","PPP1R21","PPP2R1A","PPP2R2B","PRDM13","PRDX3","PRKCG","PRKDC","PRNP","PROKR2","PROP1","PRRT2","PRRX1","PRUNE1","PSAT1","PTCH1","PTEN","PTF1A","PTH1R","PTRH2","PUM1","QARS1","RAB11B","RAB18","RAB3GAP1","RAB3GAP2","RAC1","RAD21","RAD51","RAPSN","RARS2","RBBP8","RBL2","RBM10","RBM8A","RD3","RDH12","RECQL4","RELN","REPS1","RERE","RFC1","RFC2","RFWD3","RFX7","RHOBTB2","RNASEH1","RNASEH2A","RNF113A","RNF13","RNF170","RNF216","RNU12","RNU4ATAC","ROBO1","ROBO3","ROGDI","RORA","RPE65","RPGRIP1","RPGRIP1L","RPL10","RPS6KA3","RRAS2","RRM2B","RTEL1","RTTN","RUBCN","RXYLT1","SACS","SALL1","SAMD9L","SASS6","SC5D","SCARB2","SCN1A","SCN1B","SCN2A","SCN8A","SCO2","SCYL1","SDHA","SDHB","SDHC","SDHD","SEC23B","SEMA3E","SEMA6B","SEPSECS","SERAC1","SETBP1","SETD2","SETX","SF3B2","SH2B1","SH3TC2","SHANK3","SHH","SHQ1","SIGMAR1","SIK1","SIK3","SIL1","SIX3","SKI","SLC13A3","SLC18A3","SLC1A3","SLC20A2","SLC25A1","SLC25A19","SLC25A22","SLC25A24","SLC25A4","SLC25A46","SLC31A1","SLC32A1","SLC33A1","SLC35A2","SLC35B2","SLC39A14","SLC39A8","SLC44A1","SLC52A3","SLC5A6","SLC9A1","SLC9A6","SMARCA2","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SMC1A","SMC3","SMG9","SMO","SMPD1","SMPD4","SNORD118","SNX14","SOD1","SON","SOX11","SOX2","SOX3","SOX4","SPART","SPATA7","SPG11","SPG21","SPG7","SPRED1","SPTAN1","SPTBN2","SPTLC1","SQSTM1","SRD5A3","SRPX2","STAG1","STAG2","STAT2","STIL","STT3A","STT3B","STUB1","STX1A","STXBP1","SUFU","SUMF1","SUOX","SYNE1","SYT14","SYT2","TAF1","TAOK1","TAPT1","TARS1","TBC1D20","TBC1D23","TBC1D24","TBC1D2B","TBCD","TBCE","TBCK","TBL1XR1","TBL2","TBP","TCTN1","TCTN2","TCTN3","TDGF1","TDP1","TECPR2","TERC","TERT","TFAP2A","TGFBR1","TGFBR2","TGIF1","TGM6","THG1L","THOC2","TINF2","TK2","TKFC","TMCO1","TMEM107","TMEM138","TMEM216","TMEM218","TMEM231","TMEM237","TMEM240","TMEM270","TMEM67","TMEM94","TMTC3","TMX2","TNPO2","TOE1","TOGARAM1","TONSL","TOP3A","TOPORS","TOR1A","TP53RK","TPP1","TRAF7","TRAPPC11","TRAPPC12","TRAPPC4","TRAPPC6B","TRAPPC9","TREX1","TRIM8","TRIP13","TRMT1","TRMT10A","TRPC3","TRPM3","TRRAP","TSEN15","TSEN2","TSEN34","TSEN54","TTBK2","TTC19","TTPA","TUBA1A","TUBB","TUBB2A","TUBB2B","TUBB3","TUBB4A","TUBB4B","TUBGCP4","TUBGCP6","TULP1","TWIST1","TWNK","TXN2","TXNDC15","UBA5","UBE2A","UBE3C","UBTF","UCHL1","UFC1","UFM1","UFSP2","USF3","USH1C","USH1G","USH2A","USP18","USP45","USP8","USP9X","VAC14","VANGL1","VANGL2","VARS1","VARS2","VHL","VLDLR","VPS11","VPS13B","VPS13D","VPS35L","VPS37D","VPS41","VPS4A","VPS50","VPS51","VPS53","VRK1","VWA3B","WAC","WARS2","WASHC5","WDR26","WDR35","WDR37","WDR4","WDR45","WDR73","WDR81","WHRN","WLS","WNT1","WWOX","XRCC1","XRCC4","YIF1B","YME1L1","YRDC","ZBTB11","ZEB2","ZFYVE26","ZIC1","ZIC2","ZIC3","ZMIZ1","ZNF292","ZNF335","ZNF423","ZNF592","ZNHIT3","ZPR1","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PROMINENT_DIGIT_PAD":{"collection":"C5:HPO","systematicName":"M41412","pmid":"","exactSource":"HP:0011298","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011298","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROMINENT_DIGIT_PAD","geneSymbols":["ADNP","ARID1B","ATN1","BCOR","CCDC22","CHD1","CREBBP","CTCF","DEAF1","DHX30","EMC1","EP300","EZH2","FOXP1","FOXP2","GJA5","GJA8","H3-3B","H4C5","HNRNPH2","JARID2","KANSL1","KDM6A","KMT2A","KMT2D","KPTN","MAP1B","MED12","MED12L","NAA10","NFIX","NR2F1","NXN","PAK3","PKDCC","PRR12","RPS23","RUSC2","TBL1XR1","TCF4","TWIST2","WAC","ZNF292","ZNF407"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LONG_PALM":{"collection":"C5:HPO","systematicName":"M43396","pmid":"","exactSource":"HP:0011302","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011302","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LONG_PALM","geneSymbols":["POR","SLC2A10","SMS","UBE3B","UPF3B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BROAD_THUMB":{"collection":"C5:HPO","systematicName":"M37813","pmid":"","exactSource":"HP:0011304","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011304","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BROAD_THUMB","geneSymbols":["ACAN","ADNP","ALX4","B3GAT3","BICRA","BMP2","BMPR1A","BPTF","CBFB","CHST3","COL2A1","CREBBP","DACT1","DHX30","DNM1L","DVL1","DVL3","EED","EP300","EXOSC2","EZH2","FGF9","FGFR1","FGFR2","FGFR3","FLNA","FLNB","G6PC3","GATA4","GDF5","GJA5","GJA8","GLI3","GNAS","GPC3","GPC4","H3-3A","H3-3B","HNRNPR","HOXD13","HPGD","INPPL1","KCNH1","KCTD1","LIG4","LMBR1","MAN2C1","MAP3K7","MED12","MEGF8","MEIS2","MSX2","NOG","NSD1","NSUN2","NXN","OFD1","OTUD6B","PACS1","PCDHGC4","POGZ","PRKD1","PRKG2","PSMD12","PTEN","PUF60","PYCR2","RAB23","RBM8A","RLIM","ROR2","SALL1","SATB2","SIAH1","SMO","SMOC1","SNIP1","SRCAP","SUMF1","SUZ12","TBX5","TRPM3","TTC26","TWIST1","USP9X","WNT5A","XYLT1","ZNF668"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SLENDER_TOE":{"collection":"C5:HPO","systematicName":"M37814","pmid":"","exactSource":"HP:0011308","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011308","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SLENDER_TOE","geneSymbols":["B4GALT7","MTM1","PPP1R15B","SMS","TRMT10A","VPS13B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_LONG_BONE_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M37815","pmid":"","exactSource":"HP:0011314","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011314","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LONG_BONE_MORPHOLOGY","geneSymbols":["ABCC9","ACAN","ACP5","ACSL4","ACTA1","ACVR1","ADA","ADAMTS10","ADAMTS2","ADAMTSL2","ADNP","AFF3","AFF4","AGA","AGPS","AIFM1","AIP","ALG12","ALG3","ALG9","ALPL","ALX4","AMER1","AMMECR1","ANAPC1","ANKH","ANO5","ANTXR1","ANTXR2","APC","ARCN1","ARSB","ARSK","ARSL","ARX","ASXL2","ATP6V0A2","ATP6V1B2","ATP7A","ATR","ATRIP","ATRX","B2M","B3GALT6","B3GAT3","B3GLCT","B4GALT7","B9D1","B9D2","BAZ1B","BCL7B","BCOR","BCR","BGN","BHLHA9","BICRA","BMP1","BMP2","BMPR1A","BMPR1B","BPNT2","BPTF","BRAF","BRCA1","BRCA2","BRD4","BRF1","BRIP1","BUD23","CA2","CAMK2A","CANT1","CASK","CASR","CBFB","CBL","CBS","CC2D2A","CCDC134","CCDC47","CCDC8","CCN6","CCNQ","CD96","CDC42BPB","CDC45","CDC6","CDKL5","CDKN1C","CDT1","CENPE","CENPJ","CENPT","CEP120","CEP152","CEP164","CEP290","CFAP410","CFL2","CHD7","CHEK2","CHN1","CHST3","CHSY1","CILK1","CKAP2L","CLCN5","CLCN7","CLIP2","CLTCL1","COG1","COG4","COG5","COL10A1","COL11A1","COL11A2","COL1A1","COL1A2","COL2A1","COL9A1","COL9A2","COL9A3","COLEC10","COLEC11","COMP","CPLANE1","CPLX1","CREB3L1","CREBBP","CRKL","CRTAP","CSF1R","CSGALNACT1","CSPP1","CTBP1","CTC1","CTCF","CTNS","CUL7","CWC27","CYP19A1","CYP27B1","CYP2R1","CYP3A4","DACT1","DCHS1","DCLRE1C","DDR2","DDRGK1","DHCR7","DHODH","DHX30","DKC1","DLK1","DMP1","DMXL2","DNA2","DNAJC21","DNAJC30","DNM1L","DNMT3A","DONSON","DPYD","DUOX2","DUOXA2","DVL1","DVL3","DYM","DYNC2H1","DYNC2I1","DYNC2I2","DYNC2LI1","EBP","EED","EFL1","EFNB1","EHHADH","EIF2AK3","EIF4A3","EIF4H","ELN","ENPP1","EP300","ERCC1","ERCC4","ERCC6","ERCC8","ESCO2","ESR1","EVC","EVC2","EXOC6B","EXOSC2","EXT1","EXT2","EXTL3","EZH2","FAM111A","FAM20C","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FAT4","FBN1","FBN2","FBXL3","FDFT1","FERMT1","FGF10","FGF16","FGF23","FGF9","FGFR1","FGFR2","FGFR3","FGFRL1","FIBP","FIG4","FKBP10","FKBP6","FLI1","FLNA","FLNB","FN1","FZD2","G6PC3","GALNS","GAN","GATA4","GATAD2B","GDF5","GEMIN4","GGCX","GHR","GJA1","GJA5","GJA8","GLB1","GLE1","GLI1","GLI3","GMNN","GNAO1","GNAS","GNAS-AS1","GNPAT","GNPTAB","GNPTG","GNS","GORAB","GPC3","GPC4","GPC6","GPR101","GPX4","GRIN1","GRM7","GSC","GTF2I","GTF2IRD1","GTF2IRD2","GUSB","H3-3A","H3-3B","HARS1","HBB","HDAC4","HDAC6","HDAC8","HEATR3","HEPHL1","HERC2","HESX1","HHAT","HINT1","HNRNPA1","HNRNPA2B1","HNRNPH1","HNRNPR","HOXA11","HOXA13","HOXD13","HPGD","HS2ST1","HS6ST1","HSPA9","HSPG2","HYLS1","IARS2","IDH1","IDH2","IDS","IDUA","IFIH1","IFT122","IFT140","IFT172","IFT43","IFT52","IFT57","IFT80","IFT81","IHH","IL2RG","IL6ST","IL7R","INPP5K","INPPL1","INTU","INVS","IPO8","IQCB1","IQCE","ITCH","IYD","JAG1","KANSL1","KAT6A","KAT6B","KCNA1","KCNE5","KCNH1","KCNJ2","KCNJ8","KCNMA1","KCNN3","KCTD1","KDELR2","KIAA0586","KIAA0753","KIF15","KIF1A","KIF22","KIF7","KLHL41","KNSTRN","KRAS","LAMA5","LARP7","LBR","LEMD3","LETM1","LHX3","LHX4","LIFR","LIG4","LIMK1","LMBR1","LMNA","LMOD3","LONP1","LPIN2","LRP4","LRP5","LRRK1","LTBP1","LTBP3","LYSET","LZTFL1","LZTR1","MACROH2A1","MAD2L2","MAF","MAFB","MAGEL2","MAN2B1","MAN2C1","MAP2K1","MAP2K2","MAP3K7","MAPK1","MAPK8IP3","MASP1","MATN3","MBTPS2","MCTP2","MECOM","MED12","MED25","MEG3","MEGF8","MEIS2","MET","METTL27","MGAT2","MGP","MIA3","MIR140","MKRN3","MKS1","MLXIPL","MMP13","MMP2","MMP9","MPZ","MRAS","MRPS28","MSX2","MTAP","MTHFS","MTX2","MUSK","MYF5","MYSM1","NADSYN1","NANS","NCF1","NDN","NDUFAF6","NEB","NEK1","NEK8","NEK9","NEPRO","NEU1","NEUROD2","NF1","NFIX","NHP2","NHS","NIPBL","NKX3-2","NMNAT1","NOG","NOP10","NOTCH2","NOTCH3","NPAP1","NPHP1","NPHP3","NPHP4","NPM1","NPR2","NPR3","NRAS","NSD1","NSD2","NSDHL","NSMCE2","NSUN2","NUP85","NXN","OBSL1","OCRL","OFD1","ORC1","ORC4","ORC6","OSTM1","OTUD6B","P3H1","P4HB","P4HTM","PACS1","PALB2","PAM16","PAPSS2","PARN","PCDHGC4","PCNT","PCYT1A","PDE3A","PDE4D","PDGFRB","PEPD","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PEX7","PHEX","PHYH","PIEZO2","PIGL","PIGP","PIGQ","PIGS","PIGT","PIGU","PIK3C2A","PIK3CD","PIK3R1","PISD","PITX1","PLCB3","PLEKHM1","PLK4","PLOD2","PLOD3","PLXND1","PMP22","PNKP","POC1A","POGZ","POLE","POLR1A","POLR3A","POLRMT","POP1","POR","PORCN","POU1F1","PPP3CA","PRDM5","PRKACA","PRKACB","PRKAR1A","PRKD1","PRKG2","PRMT7","PROP1","PSMD12","PTCH1","PTDSS1","PTEN","PTH1R","PTHLH","PTPN11","PUF60","PUS3","PWAR1","PWRN1","PYCR1","PYCR2","QRICH1","RAB23","RAB33B","RAB3GAP2","RAD21","RAD51","RAD51C","RAF1","RAG1","RAG2","RASA1","RASA2","RB1","RBBP8","RBM10","RBM8A","RBPJ","RECQL4","RET","RETREG1","REV3L","RFC2","RFWD3","RINT1","RIPK4","RIT1","RLIM","RMRP","RNU4ATAC","ROBO1","ROR2","RPGRIP1","RPGRIP1L","RPL13","RPL26","RPS19","RPS6KA3","RRAS","RRAS2","RSPO2","RSPRY1","RTEL1","RTL1","RUNX2","SALL1","SALL4","SATB2","SBDS","SCARF2","SCN1B","SCN2A","SCN4A","SCN9A","SCUBE3","SDCCAG8","SEC24D","SERPINH1","SETBP1","SETD5","SF3B2","SF3B4","SFRP4","SGMS2","SH3PXD2B","SHH","SHOX","SIAH1","SIK1","SIK3","SIL1","SKI","SKIC3","SLC10A7","SLC17A5","SLC25A22","SLC26A2","SLC29A3","SLC2A10","SLC2A2","SLC31A1","SLC32A1","SLC34A1","SLC34A3","SLC35A2","SLC35B2","SLC35D1","SLC39A13","SLC5A5","SLCO2A1","SLX4","SMAD4","SMAD6","SMARCA2","SMARCAL1","SMC1A","SMC3","SMO","SMOC1","SNIP1","SNORD115-1","SNORD116-1","SNRPB","SNRPN","SNX10","SON","SOS1","SOS2","SOST","SOX9","SP7","SPARC","SPART","SPRED1","SPRED2","SPTBN1","SQSTM1","SRCAP","SRP54","SRY","STX16","STX1A","SUCLG1","SUMF1","SUZ12","SVBP","TAPT1","TBC1D2B","TBC1D7","TBCD","TBCE","TBL2","TBX15","TBX22","TBX3","TBX4","TBX5","TBXAS1","TCF4","TCIRG1","TCTN1","TCTN2","TCTN3","TENT5A","TERC","TERT","TFE3","TG","TGDS","TGFB1","THRB","TINF2","TMEM107","TMEM165","TMEM216","TMEM231","TMEM237","TMEM270","TMEM38B","TMEM53","TMEM67","TNFRSF11A","TNFRSF11B","TNFSF11","TONSL","TP53","TPM2","TPO","TRAF3IP1","TRAIP","TRAPPC2","TREM2","TREX1","TRIM37","TRIM8","TRIP11","TRPM3","TRPS1","TRPV4","TRPV6","TSHB","TSHR","TTC21B","TTC26","TUBB3","TWIST1","TWIST2","TXNDC15","TYMS","TYROBP","UBE2T","UFSP2","UGP2","UNC45A","USB1","USP9X","VAC14","VCP","VDR","VPS13B","VPS33A","VPS35L","VPS37D","WDR19","WDR26","WDR35","WDR62","WLS","WNK1","WNT5A","WNT7A","WRAP53","XRCC2","XYLT1","ZBTB20","ZEB2","ZIC3","ZMIZ1","ZMPSTE24","ZNF141","ZNF407","ZNF469","ZNF668","ZNF699","ZPR1","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_UNICORONAL_SYNOSTOSIS":{"collection":"C5:HPO","systematicName":"M46197","pmid":"","exactSource":"HP:0011315","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011315","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UNICORONAL_SYNOSTOSIS","geneSymbols":["CEP120","MSX2","PIGO","SMO","TCF12","TWIST1","ZEB2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BICORONAL_SYNOSTOSIS":{"collection":"C5:HPO","systematicName":"M37816","pmid":"","exactSource":"HP:0011318","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011318","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BICORONAL_SYNOSTOSIS","geneSymbols":["ERF","FGFR1","FGFR2","H4C9","MSX2","RECQL4","SCUBE3","SMO","TCF12","ZIC1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MULTIPLE_SUTURE_CRANIOSYNOSTOSIS":{"collection":"C5:HPO","systematicName":"M37817","pmid":"","exactSource":"HP:0011324","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011324","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MULTIPLE_SUTURE_CRANIOSYNOSTOSIS","geneSymbols":["ARVCF","COMT","ERF","FGFR2","GP1BB","HIRA","JMJD1C","RREB1","SEC24C","TBX1","TWIST1","UFD1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ANTERIOR_PLAGIOCEPHALY":{"collection":"C5:HPO","systematicName":"M43397","pmid":"","exactSource":"HP:0011326","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011326","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANTERIOR_PLAGIOCEPHALY","geneSymbols":["ALX4","ATP6V1B2","PIGO","TBC1D24","TCF12"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_POSTERIOR_PLAGIOCEPHALY":{"collection":"C5:HPO","systematicName":"M47181","pmid":"","exactSource":"HP:0011327","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011327","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POSTERIOR_PLAGIOCEPHALY","geneSymbols":["ADNP","ALG12","CACNA2D1","CAMK2A","CDC42BPB","GRIA1","RFX7"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_FONTANELLES":{"collection":"C5:HPO","systematicName":"M37818","pmid":"","exactSource":"HP:0011328","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011328","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_FONTANELLES","geneSymbols":["ACE","ACTA1","ACTB","ACTG1","ADAMTS2","AGT","AGTR1","ALDH18A1","ALG1","ALG8","ALG9","ALPL","AMER1","ANKRD11","ANTXR1","ARX","ASPA","ASXL3","ATP6V0A2","ATP6V1A","ATP6V1E1","ATP7A","ATR","ATRX","B3GLCT","BANF1","BMPER","CAV1","CBFB","CCDC22","CDC45","CDH11","CDKN1C","CHST14","CHUK","CLCN3","COG4","COL11A1","COL11A2","COL1A1","COL1A2","COX5A","CREBBP","CRTAP","CTSD","CTSK","CYP27B1","CYP2R1","DCHS1","DDR2","DDX3X","DICER1","DLK1","DPYSL5","DSE","DUOX2","DUOXA2","DVL1","EBP","EFEMP2","EP300","ERCC1","ETFA","ETFB","ETFDH","FAM111A","FAM20C","FAT4","FBLN5","FGFR2","FGFR3","FIG4","FLNA","FOXE1","GH1","GJA1","GLI3","GLIS3","GNPAT","GNPTAB","GPX4","GRB10","H19","HDAC4","HESX1","HNF1B","HOXD13","HPGD","HRAS","HSD17B4","HYMAI","IFT140","IGF2","INPPL1","INTU","IYD","KCNQ1","KCNQ1OT1","KIF7","KLF1","KLHL40","KLHL41","LHX1","LHX3","LHX4","LIG4","LMNA","LMOD3","LRP2","LTBP1","LTBP4","MAF","MASP1","MED12","MEG3","MID1","MMP2","MPDU1","MSX2","MTOR","MVK","MYCN","NAA10","NCAPG2","NDE1","NDUFAF3","NEB","NEPRO","NFASC","NKX2-1","NKX2-5","NLRP3","NPHP3","NSMCE3","NSUN2","ORC1","P3H1","PAM16","PAX8","PCGF2","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PIEZO2","PIGA","PIGQ","PLAGL1","POLR3A","POR","POU1F1","PPP2R5D","PROP1","PTDSS1","PYCR1","RBM10","RECQL4","REN","RNU12","RNU4ATAC","ROR2","RPS6KA3","RTL1","RUNX2","SEC23A","SETBP1","SH3PXD2B","SHPK","SIX2","SKI","SLC25A19","SLC25A24","SLC26A4","SLC34A3","SLC5A5","SMC3","SMG9","SOX9","SPTBN1","TALDO1","TBCE","TG","TPO","TSHB","TSHR","TWIST1","UBR1","USP7","VARS1","VDR","VPS35L","WNT5A","WT1","ZIC1","ZMPSTE24","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_CRANIAL_SUTURES":{"collection":"C5:HPO","systematicName":"M37819","pmid":"","exactSource":"HP:0011329","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011329","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_CRANIAL_SUTURES","geneSymbols":["AARS1","AASS","ABCC8","ACE","ACTB","ACTG1","ADAMTS2","ADAMTS3","ADAMTSL1","ADARB1","ADSL","AFF4","AGO2","AGT","AGTR1","AHDC1","AIFM1","AKT1","ALDH18A1","ALG9","ALPL","ALX4","AMER1","ANKRD11","ANTXR1","APC2","ARID2","ARVCF","ASPA","ASXL1","ASXL3","ATIC","ATP6V0A2","ATP6V1A","ATP6V1B2","ATP6V1E1","ATP7A","ATR","ATRIP","B3GALT6","B3GAT3","B3GLCT","B4GALT7","BANF1","BCL11B","BICRA","BMP1","BMP4","BPNT2","CAMSAP1","CARS1","CASZ1","CCBE1","CCDC134","CCNQ","CDC45","CDC6","CDH11","CDK8","CDKN1C","CDT1","CENPE","CENPJ","CEP120","CEP152","CEP57","CHD4","CHD5","CHST14","CHST3","CLCN3","CLCN7","COL11A1","COL1A1","COL1A2","COL25A1","COLEC10","COLEC11","COMT","CREB3L1","CREBBP","CRTAP","CTCF","CTSK","CWC27","CYP26B1","CYP27B1","CYP2R1","DCHS1","DDB1","DDX6","DIAPH1","DLK1","DMP1","DNA2","DNMT3A","DONSON","DPF2","DPH1","DPH2","DSE","DUOX2","DUOXA2","EFEMP2","EFNB1","ELN","ENPP1","EP300","ERCC1","ERCC2","ERCC3","ERCC5","ERCC6","ERF","ERMARD","ESCO2","EXOC8","EXTL3","FAM111A","FAM20C","FAT4","FBLN5","FBN1","FGFR1","FGFR2","FGFR3","FIG4","FKBP10","FLNA","FLNB","FOXG1","FREM1","GABRD","GCK","GH1","GJA1","GJA5","GJA8","GLI3","GLIS3","GMNN","GNPTAB","GORAB","GP1BB","GPC3","GPC4","GPC6","GRB10","GTF2E2","GTF2H5","H19","H3-3B","H4C9","HDAC4","HERC1","HESX1","HIRA","HNRNPK","HNRNPU","HPGD","HSD17B4","HSPG2","HUWE1","IFITM5","IFT122","IFT140","IFT43","IFT52","IGF2","IL11RA","IL6ST","INS","INTU","IPO8","IRX5","IYD","JMJD1C","KANSL1","KAT6A","KCNAB2","KCNJ11","KCNQ1","KCNQ1OT1","KDELR2","KDM4B","KDM5B","KIF1A","KPTN","KRAS","KRT14","KRT5","LEMD2","LHX3","LHX4","LIG4","LMNA","LMX1B","LRP5","LTBP1","LUZP1","MAF","MAN2B1","MAP1B","MAP3K7","MAPK1","MASP1","MED12","MEG3","MEGF8","MESD","MID1","MMP14","MMP2","MMP23B","MPLKIP","MSX2","MTX2","MYH3","NAA10","NARS2","NCAPG2","NFIA","NFIX","NLRP3","NOTCH2","NOTCH3","NSD1","NSRP1","NSUN2","NUP188","NUP85","ORC1","ORC4","ORC6","OTUD5","P3H1","P4HB","PAM16","PCDHGC4","PCNT","PDGFRB","PDPN","PDX1","PEX1","PEX14","PEX19","PEX2","PHEX","PIGA","PIGO","PIGT","PLK4","PLOD2","POGZ","POLA1","POLR3A","POR","POU1F1","PPFIBP1","PPIB","PPP1CB","PPP1R21","PPP2R1A","PPP3CA","PRDM16","PRIM1","PRKCZ","PRKG2","PROP1","PSAT1","PTCH1","PTDSS1","PTEN","PURA","PYCR1","RAB23","RAC3","RBBP8","RBM10","RECQL4","REN","RERE","RETREG1","RNF113A","RNF125","RNU12","RNU4ATAC","ROR2","RPS19","RPS6KA3","RREB1","RSPRY1","RTL1","RTTN","RUNX2","SC5D","SCARF2","SCN9A","SCUBE3","SEC23A","SEC24C","SEC24D","SETBP1","SETD1A","SETD2","SH2B1","SH3PXD2B","SIX2","SKI","SLC12A6","SLC25A24","SLC2A10","SLC34A3","SLC35A2","SLC39A8","SLC5A5","SMAD3","SMAD6","SMARCD1","SMC3","SMG9","SMO","SNX10","SON","SP7","SPECC1L","SPEN","SRCAP","STAT3","STXBP1","TANC2","TAPT1","TARS1","TBC1D24","TBCE","TBCK","TBX1","TCF12","TCIRG1","TENT5A","TG","TGFBR1","TGFBR2","THRA","TLK2","TMCO1","TMEM216","TNFSF11","TOGARAM1","TPO","TRAIP","TRPV6","TSHB","TWIST1","UBE4B","UFD1","USP7","VAC14","VDR","WDR19","WDR35","WNK1","YY1","ZEB2","ZFHX4","ZIC1","ZMPSTE24","ZNF292","ZNF462","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_METOPIC_SYNOSTOSIS":{"collection":"C5:HPO","systematicName":"M37820","pmid":"","exactSource":"HP:0011330","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011330","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_METOPIC_SYNOSTOSIS","geneSymbols":["ASXL3","CDK8","DDB1","DIAPH1","ERF","FGFR1","FREM1","GLI3","GPC3","GPC4","HERC1","HNRNPK","IL11RA","MSX2","NFIA","OTUD5","PCDHGC4","PIGA","PIGT","PPFIBP1","PTCH1","SIX2","SON","TMEM216","WDR35"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FACIAL_SHAPE_DEFORMATION":{"collection":"C5:HPO","systematicName":"M37821","pmid":"","exactSource":"HP:0011334","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011334","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FACIAL_SHAPE_DEFORMATION","geneSymbols":["ACE","AGT","AGTR1","CEP55","FGF20","GFRA1","HIBCH","ITGA8","MAN2B1","NPHP3","PAX2","PBX1","PKHD1","REN","UBA1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FRONTAL_HIRSUTISM":{"collection":"C5:HPO","systematicName":"M41413","pmid":"","exactSource":"HP:0011335","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011335","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FRONTAL_HIRSUTISM","geneSymbols":["CKAP2L","CREBBP","DLK1","EP300","FLNA","MEG3","PRMT7","RTL1","SLC25A12","TASP1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_MOUTH_SIZE":{"collection":"C5:HPO","systematicName":"M37822","pmid":"","exactSource":"HP:0011337","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011337","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_MOUTH_SIZE","geneSymbols":["ABCC9","ACTB","ACTG1","ACTL6B","ADAMTS3","ADAMTSL2","ADAT3","ADNP","ADSL","AFF3","AGA","AKT1","AKT3","ALDH18A1","ALG9","AMMECR1","ANKRD11","AP1S2","AP2M1","AP4B1","AP4E1","AP4M1","AP4S1","APC","ARID1A","ARID1B","ARID2","ARVCF","ASXL1","ASXL3","ATAD3A","ATIC","ATP10A","ATP6V0A2","ATP6V1B2","ATP6V1E1","ATPAF2","ATRX","AUTS2","B3GAT3","B3GLCT","B4GALT7","BAZ1B","BBS7","BCL11B","BCL7B","BCR","BIN1","BMP2","BMPR1A","BPNT2","BPTF","BRPF1","BUD23","CA2","CACNA1C","CAMK2A","CAMTA1","CANT1","CASZ1","CAV1","CCBE1","CCDC47","CCND2","CD96","CDC42","CDC42BPB","CDC45","CDC6","CDK13","CDK19","CDT1","CENPF","CENPT","CEP57","CHD2","CHD7","CHRNG","CHST14","CHST3","CHSY1","CLCF1","CLCN3","CLIP2","COG1","COG7","COL11A1","COL11A2","COL2A1","COL3A1","COL7A1","COMT","CREBBP","CRKL","CRLF1","CTCF","CUL4B","DACT1","DCHS1","DCPS","DDB1","DDX11","DHCR24","DHCR7","DLK1","DNAJC30","DONSON","DPF2","DPYD","DPYSL5","DSE","DVL1","ECEL1","EDN1","EIF4A3","EIF4H","ELN","EP300","ERLIN2","EXOSC5","EXTL3","FAM20C","FAT4","FBN1","FBXO11","FGFR2","FKBP6","FLCN","FLNA","FOXP2","FREM2","GABRA3","GABRD","GALNS","GATAD2B","GBA1","GJA1","GLB1","GMNN","GNAI3","GNB2","GNPTAB","GNS","GP1BB","GPC3","GPC4","GRB10","GSC","GTF2I","GTF2IRD1","GTF2IRD2","H3-3A","H4C11","H4C3","H4C5","HDAC6","HEATR3","HECTD4","HECW2","HIRA","HIVEP2","HNRNPH2","HS2ST1","HSPG2","HUWE1","IARS2","IDUA","IFT140","IGF1R","INSR","IRX5","ITGA3","JMJD1C","KARS1","KAT5","KAT6A","KATNB1","KCNAB2","KCNH1","KCNJ8","KCNK4","KCNMA1","KCNN3","KDM3B","KDM6B","KIF15","KIF7","KLHL15","KMT2B","LARP7","LEMD2","LGI3","LIG4","LIMK1","LMNA","LMX1B","LTBP3","LUZP1","MADD","MAF","MAP2K1","MAP3K7","MAPK1","MAPK8IP3","MAPRE2","MBD5","MCM5","MDM2","MECP2","MED12","MED12L","MED13","MED13L","MEG3","METTL27","MGAT2","MIPEP","MKS1","MLXIPL","MMP1","MMP23B","MTOR","MTX2","MUSK","MYBPC1","MYH3","MYL11","MYT1L","NALCN","NCF1","NEB","NEDD4L","NEXMIF","NFIA","NFIX","NMNAT1","NONO","NOTCH2","NR2F1","NRXN1","NSUN2","NXN","OCA2","ORC1","ORC4","ORC6","OSGEP","OTX2","PACS1","PACS2","PAFAH1B1","PAX3","PCGF2","PDPN","PGAP1","PGAP2","PHACTR1","PIEZO2","PIGA","PIGB","PIGF","PIGL","PIGN","PIGU","PIK3CA","PIK3R2","PLCB4","PMM2","POGZ","POLA1","POLD1","POLR1B","POLR1C","POLR1D","POLR3A","POR","POU4F1","PPM1D","PPP1R15B","PQBP1","PRDM16","PRKCZ","PRPS1","PRRX1","PSPH","PTCH1","PTDSS1","PTEN","QRICH1","RAB3GAP1","RAF1","RAI1","RALGAPA1","RECQL4","RERE","RFC2","RIPK4","RLIM","RNF113A","RNF125","RNF2","RNU12","ROR2","RPL10","RPS6KA3","RREB1","RSPO2","RTL1","RTTN","RYR1","SALL1","SATB2","SCARF2","SCN1A","SCNM1","SCYL2","SEC23A","SEC24C","SEMA3E","SEPTIN9","SET","SETBP1","SETD1A","SF3B2","SF3B4","SH2B1","SH3PXD2B","SIN3A","SKI","SKIC3","SLC12A2","SLC25A24","SLC2A1","SLC6A1","SMAD4","SMARCA2","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SMS","SNIP1","SNRPN","SON","SOS1","SOX11","SOX4","SOX6","SOX9","SP7","SPEG","SPEN","SPRED2","SRCAP","SSR4","STAG1","STRADA","STX1A","STXBP1","SUPT16H","SYNGAP1","TAF6","TALDO1","TASP1","TBC1D20","TBL2","TBX1","TBX4","TCF4","TCOF1","TGDS","THUMPD1","TLK2","TMCO1","TMEM147","TMEM270","TMEM67","TMEM70","TMLHE","TNNI2","TNNT3","TP63","TPM2","TRIO","TRIP12","TRIP4","TRMT10A","TRMT5","TRPM3","TRRAP","TTN","TUBB","TWIST1","TWIST2","TXNL4A","UBE2A","UBE3A","UBE3B","UBE4B","UFC1","UFD1","VPS37D","WAC","WDR4","WDR73","WLS","WNT3","YWHAE","ZBTB20","ZMIZ1","ZMPSTE24","ZMYND11","ZNF148","ZNF526","ZNF699","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_MOUTH_SHAPE":{"collection":"C5:HPO","systematicName":"M37823","pmid":"","exactSource":"HP:0011338","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011338","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_MOUTH_SHAPE","geneSymbols":["ABCC8","ABL1","ADAM22","AFF3","AFF4","AGO2","AHI1","AKT1","ALX4","ANKLE2","AP1S2","ASH1L","ASXL3","ATN1","ATP1A2","ATP1A3","ATP6V1B2","ATRX","BAP1","BCAS3","BRAF","BRD4","BRPF1","BUB1B","CACNA1A","CACNA1C","CACNA1I","CAMTA1","CCDC174","CCDC47","CCDC88A","CDC42","CDH11","CDK13","CDK5","CHAMP1","CHD8","CHRNG","CLTC","CNOT3","COLEC10","COLEC11","COLQ","CPLX1","CSNK2B","CTBP1","DCHS1","DEAF1","DENND5A","DGCR2","DGCR6","DGCR8","DHX30","DHX37","DIS3L2","DLK1","DNAJC21","DPF2","DPH5","DPYD","DST","DVL1","DVL3","EBF3","EBP","ECEL1","EEF1A2","EHMT1","EIF2S3","ELN","ERCC2","ESS2","EXT2","EXTL3","FAM149B1","FAT4","FBXO11","FGFRL1","FLII","FOXP1","FZD2","GBA1","GCK","GFM2","GK","GMPPA","GNB2","GPC4","GRB10","GRIA3","GTPBP2","H3-3A","H4C11","H4C5","HACE1","HDAC4","HDAC8","HERC2","HMGA2","HNRNPK","HOXB1","HRAS","HS6ST2","HSPG2","IGF2","IL1RAPL1","INPP5E","INS","INTS1","IQSEC2","KANSL1","KAT6A","KAT8","KCNH1","KCNJ11","KCNJ6","KCNK9","KCNMA1","KDM1A","KDM4B","KIAA0753","KIF15","KIF1A","KIF7","KMT2D","LAMA2","LAMB2","LEMD3","LETM1","LIFR","LMBR1","MAFB","MAGEL2","MASP1","MBD5","MED12","MED12L","MED13L","MEF2C","MEG3","MGAT2","MKRN3","MLXIPL","MSL3","MTOR","MYH3","MYL11","MYMX","NALCN","NARS2","NCAPG2","NDN","NELFA","NEXMIF","NFIX","NGLY1","NIPBL","NKAP","NOG","NONO","NOTCH2","NOVA2","NPAP1","NRAS","NSD2","NTNG2","NXN","OCA2","OCRL","OGT","PACS1","PACS2","PAK3","PARS2","PCGF2","PCLO","PDE4D","PDX1","PDZD8","PGAP2","PGAP3","PHF21A","PIGA","PIGF","PIGG","PIGL","PIGN","PIGO","PIGQ","PIGT","PIGU","PIGV","PIGW","PIGY","PIK3R1","PLOD3","PLXND1","POGZ","POLA1","POLR3A","POLRMT","POMT2","PPP1CB","PPP1R15B","PPP2R1A","PPP2R5D","PRKAR1A","PRKAR1B","PRR12","PURA","PUS7","PWAR1","PWRN1","RAB18","RAC1","RAD21","RAI1","REV3L","RLIM","RNU4ATAC","ROR2","RPS23","RPS6KA3","RTL1","SC5D","SCN4A","SCNM1","SETBP1","SETD5","SF3B2","SHMT2","SIM1","SIN3A","SLC1A3","SLC35A2","SLC6A8","SLC9A6","SMARCD1","SMC1A","SMC3","SMC5","SNORD115-1","SNORD116-1","SNRPN","SON","SOX11","SOX5","SRCAP","STAC3","STAT3","STRADA","TASP1","TBC1D24","TBL1XR1","TBX1","TCF20","TCF4","TELO2","TET3","TFAP2B","TFE3","TMEM237","TRAPPC9","TRIP12","TRMT10A","TUBB4A","TWIST2","UBE2A","UBR1","UNC80","VPS13B","WAC","WDR37","WDR4","WNT5A","ZBTB20","ZC4H2","ZEB2","ZMYM2","ZNF407","ZNHIT3","ZPR1","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_UPPER_LIP_VERMILLION":{"collection":"C5:HPO","systematicName":"M37824","pmid":"","exactSource":"HP:0011339","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011339","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_UPPER_LIP_VERMILLION","geneSymbols":["AARS1","ABCC9","ACTB","ACTG1","ADAMTSL1","ADARB1","ADGRG6","ADNP","ADSL","AFF3","AFF4","AGL","AGO1","AGO2","AGR2","ALDH6A1","ALG12","ALG9","AMMECR1","ANKLE2","ANKRD11","ANKRD17","AP2M1","AP3B1","AP4B1","AP4E1","AP4M1","AP4S1","APC","ARHGEF2","ARID1A","ARID1B","ARID2","ARX","ASPM","ASXL2","ASXL3","ATIC","ATN1","ATP1A2","ATP1A3","ATP6V1B2","ATP9A","ATRX","B3GLCT","B4GALT1","BAP1","BCL11A","BCL11B","BCR","BMP2","BPTF","BRAT1","BRCA1","BUB1","CACNA1A","CACNA1C","CACNA2D1","CAMSAP1","CCNK","CCNQ","CDC42","CDC42BPB","CDH11","CDH2","CDK10","CDK13","CDK19","CDK5RAP2","CDK6","CDON","CENPE","CENPJ","CEP135","CEP152","CEP63","CHAMP1","CHD2","CHD8","CHMP1A","CHST14","CILK1","CIT","CLCN3","CLCN6","CLP1","CLTC","CNOT2","COG1","COL11A1","COPB2","CPLX1","CREBBP","CRKL","CSF1R","CSNK2A1","CTCF","CTNNB1","CUX1","CYFIP2","DCHS1","DCPS","DDB1","DDX59","DEAF1","DENND5A","DHPS","DIS3L2","DISP1","DLK1","DLL1","DMPK","DNMT3A","DPF2","DPM1","DPM2","DSE","DVL1","DYRK1A","EBF3","EDA","EDA2R","EDAR","EDARADD","EDEM3","EEF1A2","EHMT1","EIF5A","EP300","EPG5","EXOC2","EXOSC2","EXT1","FAR1","FAT4","FBN1","FBXO28","FGF8","FGFR1","FIG4","FLII","FOXG1","FOXH1","FZD2","GAD1","GALNT2","GAS1","GATAD2B","GBA1","GJA5","GJA8","GLI2","GLIS3","GNAI1","GNB2","GNE","GOLGA2","GPC4","H3-3A","H4C5","H4C9","HDAC8","HERC2","HIVEP2","HK1","HNRNPK","HNRNPU","HOXB1","HS2ST1","HUWE1","IER3IP1","IFIH1","IFT43","IGF1R","IL1RAPL1","IQSEC2","IRF6","IRX5","JARID2","KAT6A","KAT6B","KATNB1","KCNH1","KCNJ2","KCNJ5","KCNJ6","KCNK4","KCNK9","KCNMA1","KDM1A","KDM3B","KDM4B","KDM5C","KIF11","KIF14","KIF15","KIF7","KMT2A","KMT2D","KNL1","LAS1L","LMBRD1","MAF","MAGEL2","MAN1B1","MAP1B","MAPK1","MAPK8IP3","MAPRE2","MBD5","MCM7","MCPH1","MCTP2","MECP2","MED12","MED12L","MED13","MED25","MED27","MEF2C","MEG3","MEIS2","MESD","METTL5","MFSD2A","MICU1","MID1","MINPP1","MKRN3","MKS1","MPC1","MSL3","MTOR","MYL2","MYMX","MYO18B","MYOD1","NAA10","NAA20","NALCN","NCAPD3","NCAPG2","NDN","NEXMIF","NFIA","NIPBL","NODAL","NOG","NONO","NPAP1","NRCAM","NSRP1","NSUN2","NUP37","NXN","OCA2","OCRL","ODC1","OGT","OPHN1","OTUD6B","PACS1","PACS2","PAK3","PAX3","PBX1","PCGF2","PDE4D","PDGFRB","PGAP2","PGAP3","PGM2L1","PHC1","PIEZO2","PIGB","PIGG","PIGK","PIGL","PIGN","PIGO","PIGQ","PIGT","PIGU","PIGV","PIGW","PIGY","PITX2","PLAA","PLPBP","PMM2","POGZ","POLR3A","PPM1D","PPP1CB","PPP1R15B","PPP1R21","PPP2R1A","PPP2R5D","PQBP1","PREPL","PRKACB","PRKAR1B","PRKDC","PSMD12","PTCH1","PTRH2","PUF60","PURA","PWAR1","PWRN1","PYCR2","QRICH1","RAB11B","RAD21","RAI1","RALA","RAPSN","RFX7","RHOBTB2","RNF135","RNU4ATAC","ROR2","RPL10","RPS7","RSPRY1","RTL1","RYR1","SARS1","SASS6","SATB2","SC5D","SCN1A","SCN4A","SEC23A","SETBP1","SETD1A","SETD5","SH3PXD2B","SHH","SHMT2","SIM1","SIN3A","SIX3","SLC1A3","SLC25A24","SLC25A46","SLC26A2","SLC2A1","SLC35A2","SLC6A1","SLC9A7","SMAD4","SMARCA2","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SMC1A","SMC3","SMPD4","SNIP1","SNORD115-1","SNORD116-1","SNRPN","SOX11","SOX4","SPATA5L1","SPECC1L","SPEN","SPTBN1","SRCAP","SSR4","STAG2","STEEP1","STIL","STRADA","STT3A","SUFU","SUPT16H","SYNGAP1","SYT1","TAF1","TAF13","TAF6","TAF8","TASP1","TBC1D24","TBCE","TBCK","TBL1XR1","TCF20","TCF3","TDGF1","TGFB3","TGIF1","THOC6","THUMPD1","TLK2","TMEM147","TMEM237","TMEM53","TMEM94","TNRC6B","TOE1","TPR","TRAPPC10","TRAPPC14","TRAPPC9","TRIO","TRIP12","TRMT10A","TRPS1","TRRAP","TTC5","TUBGCP2","TWIST2","UBE3B","UFC1","UNC80","USP9X","VPS35L","VPS51","WAC","WARS1","WARS2","WASHC4","WDR19","WDR26","WDR4","WDR62","WNT5A","YY1","ZBTB18","ZC4H2","ZIC2","ZMIZ1","ZNF292","ZNF407","ZNF462","ZNF526","ZNHIT3","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LONG_UPPER_LIP":{"collection":"C5:HPO","systematicName":"M37825","pmid":"","exactSource":"HP:0011341","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011341","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LONG_UPPER_LIP","geneSymbols":["AFF2","ARX","B3GALT6","DIS3L2","RECQL4","SLC35C1","TBL1XR1","TRPS1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MILD_GLOBAL_DEVELOPMENTAL_DELAY":{"collection":"C5:HPO","systematicName":"M37826","pmid":"","exactSource":"HP:0011342","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011342","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MILD_GLOBAL_DEVELOPMENTAL_DELAY","geneSymbols":["AASS","ABCA2","ABCC8","ACAD8","ACTB","ADNP","ALB","ALDH4A1","AMT","AP3B1","ASPA","ATP5F1B","ATR","ATRIP","B4GALT7","CDC6","CDH2","CENATAC","CENPE","CENPJ","CEP152","COG1","CTNNB1","CTSK","DBR1","DHTKD1","DNA2","DOLK","ERMARD","EYA1","FTCD","FZD4","GJA1","GNB2","IARS1","KCNJ11","LCA5","LRAT","LRP5","MAP1B","MCM4","MT-TK","NARS2","NDP","NFE2L2","NONO","NSMCE3","NUP85","OCRL","PCNT","PDP1","PEPD","PHKB","PLCB4","PLK4","PLP1","POLRMT","PRKAR1A","PTF1A","RBBP8","RNF168","RPE65","RRAS2","SF3B2","SIX1","SOX3","SOX9","SPATA7","TANGO2","TBX2","TBX4","TCF12","TMEM163","TOP3A","TPP2","TRAIP","TSPAN12","WDR26","ZNF408","ZNF462"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MODERATE_GLOBAL_DEVELOPMENTAL_DELAY":{"collection":"C5:HPO","systematicName":"M37827","pmid":"","exactSource":"HP:0011343","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011343","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MODERATE_GLOBAL_DEVELOPMENTAL_DELAY","geneSymbols":["ADNP","AIFM1","CDKL5","DLK1","HAL","HSD17B10","IRX5","KDM5B","MADD","MEG3","NCAPD3","NF1","PGM3","PHGDH","PLP1","PSMC3","RTL1","SDHA","SDHAF1","SDHB","SDHD","SOX9","TANGO2","TBX4","TET2","TMEM70","TPP2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SEVERE_GLOBAL_DEVELOPMENTAL_DELAY":{"collection":"C5:HPO","systematicName":"M37828","pmid":"","exactSource":"HP:0011344","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011344","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEVERE_GLOBAL_DEVELOPMENTAL_DELAY","geneSymbols":["ABCC6","ACO2","ACOX1","ACTL6B","ADAR","ADK","ADNP","ADSL","ALG1","ALG12","ALG2","AP3D1","ARNT2","ARX","ASNS","ASXL3","ATPAF2","BUB1B","C18orf32","CACNA1I","CASK","CCDC47","CDKL5","CHKA","CLTCL1","COG8","COPB2","CTNNA2","CTNND2","CYB5A","CYB5R3","DAG1","DALRD3","DEAF1","DEGS1","DENND5A","DLK1","DNM1","DOCK6","DPM1","DPYD","DPYSL5","DYM","DYNC1I2","DYRK1A","ECHS1","EIF2S3","EMG1","ENPP1","ERCC1","ERCC2","ERCC5","ERCC6","EXOC2","EXOC8","EXTL3","FBXL4","FGF13","FGFR3","FIG4","FOXA2","FOXP2","FTO","FUT8","FZR1","GABBR2","GABRA2","GABRG2","GAMT","GEMIN4","GFM2","GLI2","GLUL","GLYCTK","GNPTAB","GPHN","GRIN1","GRM1","GRM7","GSX2","GTPBP2","H4C5","HESX1","INSR","INTS1","JAG1","KARS1","KATNB1","KCNC2","KCNH1","KCNJ6","KDM5B","KIF15","KMT2B","LAMB1","LHX4","LSM11","MADD","MAPKAPK5","MECP2","MED25","MEG3","MEIS2","MGAT2","MN1","MPDU1","MT-ATP6","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND5","MT-ND6","MT-TK","MT-TL1","MT-TT","MT-TV","MT-TW","MTRR","NAA10","NDE1","NDUFA8","NEXMIF","NIN","NKX6-2","NTNG1","NTRK2","OGDHL","OTX2","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PHACTR1","PHGDH","PIGG","PIGN","PIGS","PIGU","PIGW","PLCB3","POLRMT","POMGNT1","POMK","POU1F1","PPP1R21","PRIM1","PRMT7","PROP1","PRORP","PSMC3","PURA","PYCR2","RAB3GAP2","RALGAPA1","RBL2","RELN","RNASEH2A","RNASEH2C","RNASET2","RNF2","RPS6KA3","RTL1","RTTN","SATB2","SCN2A","SEMA5A","SEPSECS","SLC16A2","SLC25A19","SLC25A46","SLC30A9","SLC33A1","SLC9A6","SMC1A","SNIP1","SNX14","ST3GAL3","STAMBP","STRADA","STXBP1","SUCLA2","SYT1","TAF8","TANGO2","TBC1D2B","TBCK","TBL1XR1","TBR1","TELO2","TRAPPC12","TRAPPC2L","TRIM8","TSEN15","TSEN2","TSEN34","TSEN54","TTC26","TUBA8","TUBB2A","TUBB3","TXN2","UGDH","UGP2","UNC80","VPS11","VPS35L","VPS4A","VPS50","VPS51","VPS53","WDR26","WDR62","YY1","ZNF335","ZPR1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_OCULAR_ABDUCTION":{"collection":"C5:HPO","systematicName":"M46198","pmid":"","exactSource":"HP:0011347","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011347","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_OCULAR_ABDUCTION","geneSymbols":["COL25A1","GRM1","KIF21A","MAFB","MYMK","MYMX","PHOX2A","ROBO3","SALL4","TUBA1A","TUBB2B","TUBB3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_GENERALIZED_ABNORMALITY_OF_SKIN":{"collection":"C5:HPO","systematicName":"M37829","pmid":"","exactSource":"HP:0011354","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011354","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENERALIZED_ABNORMALITY_OF_SKIN","geneSymbols":["AARS1","ABCA3","ABCB11","ABCB4","ABCB6","ABCC2","ABCC6","ABCC9","ABCD3","ABL1","ACADVL","ACD","ACP5","ACTA2","ACTC1","ACVRL1","ADA2","ADAM17","ADAMTS13","ADAMTS19","ADAMTS2","ADAMTSL2","ADAR","ADGRE2","AEBP1","AGA","AGPAT2","AGRN","AGXT","AIP","AK9","AKR1D1","AKT1","AKT3","ALAS2","ALDH18A1","ALDH2","ALDH3A2","ALDOA","ALDOB","ALG6","ALG8","ALMS1","ALOX12B","ALOXE3","ALPK1","AMACR","ANAPC1","ANGPT1","ANK1","ANKRD26","ANTXR1","ANTXR2","AP1S1","AP2M1","APC2","APOE","AQP5","ARHGAP31","ARID1B","ARL13B","ARL6IP6","ARMC5","ARPC1B","ARPC4","ARVCF","ARX","ASXL1","ATL1","ATL3","ATM","ATP11C","ATP1A2","ATP1A3","ATP2C1","ATP6AP1","ATP6AP2","ATP6V0A2","ATP6V1A","ATP6V1B2","ATP6V1E1","ATP7A","ATP7B","ATP8B1","ATR","ATRIP","ATRX","AXIN2","B3GALT6","B4GALT7","BAAT","BANF1","BANK1","BAZ1B","BCL7B","BCOR","BGN","BLK","BLM","BLOC1S3","BLOC1S5","BMP2","BMPR1A","BMPR2","BRAF","BRCA1","BRCA2","BRCC3","BRD4","BSCL2","BUD23","C1QB","C1R","C1S","C2","C4A","C4B","CA5A","CACNA1A","CALR","CARMIL2","CARS1","CASK","CASP10","CASR","CAST","CASZ1","CAV1","CAVIN1","CBL","CBS","CCDC115","CCM2","CCN2","CCR6","CD109","CD19","CD28","CD46","CD81","CDAN1","CDH11","CDH23","CDH3","CDIN1","CDKN1B","CDKN2A","CENPE","CENPJ","CEP104","CEP152","CFH","CFHR1","CFHR3","CFI","CFTR","CHAT","CHD2","CHRNA1","CHRNB1","CHRND","CHRNE","CHST14","CHST8","CIB1","CITED2","CLCN7","CLDN1","CLEC7A","CLIP2","CLPX","CLTRN","COG4","COG5","COG7","COG8","COL12A1","COL13A1","COL17A1","COL1A1","COL1A2","COL3A1","COL5A1","COL5A2","COL7A1","COMT","COX4I2","COX7B","CPA1","CPN1","CPOX","CR2","CREB3L1","CSTA","CSTB","CTC1","CTCF","CTLA4","CTNNB1","CTRC","CTSA","CTSB","CYB5A","CYB5R3","CYBA","CYBB","CYBC1","CYLD","CYP27A1","CYP7B1","DAXX","DCDC2","DCLRE1B","DDB2","DDR2","DDX11","DDX6","DEF6","DEPDC5","DGUOK","DHCR7","DHFR","DIAPH1","DKC1","DLL4","DLST","DNA2","DNAJC30","DNASE1","DNASE1L3","DNMT3A","DOCK6","DOK7","DPAGT1","DPM1","DPP9","DSE","DSG4","DSP","DST","DSTYK","DTNBP1","DUOX2","DUOXA2","DZIP1L","EDA","EDAR","EDARADD","EDN3","EDNRB","EGFR","EIF2AK3","EIF2AK4","EIF4H","ELMO2","ELN","ELOVL4","ELP1","EMILIN1","ENG","ENPP1","EOGT","EPAS1","EPB41","EPB42","EPHB2","EPHB4","EPM2A","EPOR","ERCC1","ERCC2","ERCC3","ERCC4","ERCC5","ERCC6","ERCC6L2","ERCC8","ETFA","ETFB","ETFDH","ETHE1","ETS1","ETV6","EVC","EVC2","EXOSC2","EXPH5","F10","F12","F13A1","F13B","F2","F5","F7","F8","FANCA","FANCC","FANCD2","FANCE","FAS","FASLG","FBLN5","FBN1","FCGR2A","FCGR2B","FCGR2C","FCGR3B","FDFT1","FDPS","FECH","FERMT1","FERMT3","FGA","FGB","FGF23","FGFR1","FGFR2","FGFR3","FGG","FH","FIP1L1","FKBP10","FKBP14","FKBP6","FLI1","FLNA","FLT4","FOCAD","FOS","FOXE3","FOXP3","FRG1","FTO","FUCA1","FYB1","FZD4","G6PC3","G6PD","GABRA1","GABRD","GABRG2","GALE","GALK1","GALM","GALT","GATA1","GATA2","GATA4","GATA6","GBA1","GCGR","GCLC","GDF2","GFI1B","GGCX","GH1","GHR","GIMAP5","GJA1","GJA5","GJA8","GJB2","GJB3","GJB4","GJB6","GLA","GLB1","GLMN","GLRX5","GLUL","GNA11","GNA14","GNAQ","GNAS","GNB2","GNPTAB","GORAB","GP1BA","GP1BB","GP6","GP9","GPI","GPNMB","GPR35","GRIK2","GSN","GTF2E2","GTF2H5","GTF2I","GTF2IRD1","GTF2IRD2","GTPBP3","GUCY1A1","GYPC","H4C3","H4C5","HBA1","HBA2","HBB","HBG2","HCCS","HCK","HDAC8","HEATR3","HELLPAR","HERC2","HESX1","HEY2","HFE","HIRA","HK1","HLA-B","HLA-DPA1","HLA-DPB1","HLA-DQB1","HLA-DRB1","HMGCL","HNF1B","HNF4A","HOXA11","HOXC13","HPGD","HPS1","HPS3","HPS4","HPS5","HPS6","HR","HS3ST6","HSD17B10","HSD3B7","HSPG2","HTRA2","HYOU1","IARS1","IARS2","ICOS","IER3IP1","IFIH1","IFNG","IFT122","IFT43","IGF1R","IGHG1","IKBKG","IKZF1","IL10","IL12A","IL12RB1","IL17F","IL17RA","IL17RC","IL18BP","IL2RG","IL36RN","IL6ST","IL7","INSR","IPO8","IRAK1","IRF2BP2","IRF5","ITGA2","ITGA2B","ITGA3","ITGAM","ITGB2","ITGB3","ITGB4","IYD","JAG1","JAK2","JAM2","JAZF1","JMJD1C","JUP","KANSL1","KCNAB2","KCNJ6","KCNK9","KCNN4","KCNQ2","KCNQ3","KCTD1","KDSR","KIAA0319L","KIF12","KIF1B","KIF22","KIF23","KIT","KITLG","KLHL7","KLLN","KMT2D","KMT2E","KNG1","KRAS","KREMEN1","KRIT1","KRT1","KRT10","KRT14","KRT18","KRT2","KRT5","KRT74","KRT83","KRT85","KYNU","LAMA3","LAMB3","LAMC2","LARP7","LBR","LCP2","LEMD2","LHX3","LHX4","LIFR","LIG1","LIG4","LIMK1","LIPA","LIPN","LMAN1","LMNA","LMNB2","LMX1B","LORICRIN","LOX","LPL","LRP1","LRP4","LRP5","LSM11","LTBP4","LUZP1","LYST","LZTR1","MAGEL2","MANBA","MAOA","MAP2K1","MAP2K2","MAPK1","MASP1","MAT2A","MAX","MBTPS2","MCFD2","MDH2","MDM2","MECP2","MED12","MEFV","MEN1","METTL27","MFAP5","MITF","MKRN3","MLXIPL","MMACHC","MMEL1","MMP1","MMP21","MMP23B","MPL","MPLKIP","MPV17","MRAS","MRE11","MRPS2","MS4A1","MST1","MT-ATP6","MT-CO1","MT-CO2","MT-CO3","MT-CYB","MT-ND1","MT-ND2","MT-ND4","MT-ND4L","MT-ND5","MT-ND6","MT-TF","MT-TH","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TW","MTAP","MTX2","MUSK","MVD","MVK","MYD88","MYH11","MYH6","MYH9","MYLK","MYO5A","MYO5B","MYO9A","MYOF","MYORG","NAA10","NABP1","NAF1","NAGA","NAXD","NBAS","NBEAL2","NBN","NCF1","NCF2","NCF4","NDP","NDUFB11","NDUFS2","NDUFS4","NECTIN1","NECTIN4","NEU1","NEXMIF","NF1","NFIA","NFIX","NFKB1","NFKB2","NFKBIA","NGF","NHLRC1","NHP2","NIPBL","NKX2-5","NKX2-6","NLRC4","NLRP1","NLRP12","NLRP3","NOD2","NOP10","NOTCH1","NPAP1","NPC1","NPC2","NPM1","NPRL2","NPRL3","NR1H4","NR3C1","NSD1","NSDHL","NSUN2","NTRK1","NUMA1","NUP214","NUP85","OCLN","ODC1","ORAI1","P2RY12","PALB2","PALLD","PARN","PARS2","PAX3","PAX8","PCDH19","PCK1","PCNA","PCNT","PDCD1","PDCD10","PDE11A","PDGFB","PDGFRB","PDPN","PDSS1","PEPD","PERP","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PFKM","PGAP2","PGAP3","PGM3","PHGDH","PIEZO1","PIGA","PIGL","PIGO","PIGV","PIGW","PIGY","PIK3CA","PIK3R1","PKD2","PKHD1","PKLR","PKP1","PLAU","PLCG2","PLD1","PLEC","PLG","PLIN1","PLK4","PLOD1","PLOD3","PLXND1","PML","PMM2","PMVK","PNKP","POFUT1","POGLUT1","POLA1","POLD1","POLE","POLG","POLG2","POLH","POLR3A","PORCN","POU1F1","POU2AF1","PPARG","PPOX","PPP1R15B","PRDM16","PRDM5","PRF1","PRICKLE1","PRKACA","PRKACG","PRKAG2","PRKAR1A","PRKCD","PRKCZ","PRKG1","PROC","PROP1","PROS1","PRPS1","PRRT2","PRSS1","PRSS2","PRTN3","PSAT1","PSENEN","PSMB8","PSMC3","PSMG2","PTDSS1","PTEN","PTF1A","PTPN11","PTPN22","PTPN3","PUS3","PWAR1","PWRN1","PXK","PYCR1","RAB27A","RAB3GAP1","RAB3GAP2","RABL3","RAC2","RAD21","RAF1","RAPSN","RARA","RASA1","RASGRP1","RASGRP2","RBBP8","RBM10","RBM28","RBPJ","RECQL","RECQL4","RERE","RET","RFC2","RHAG","RHCE","RHD","RHOH","RIN2","RINT1","RIT1","RNASEH2A","RNASEH2B","RNASEH2C","RNF113A","RNF168","RNF213","RNU4ATAC","RNU7-1","RORB","RPA1","RPS6KA3","RREB1","RTEL1","RUNX1","RYR1","SAMD9","SAMHD1","SASH1","SBDS","SCARB2","SCN10A","SCN11A","SCN1A","SCN1B","SCN2A","SCN4A","SCN8A","SCN9A","SDHA","SDHAF2","SDHB","SDHC","SDHD","SEC23B","SEC24C","SEMA4D","SEPTIN9","SERPINA1","SERPINE1","SERPINF2","SERPING1","SETD2","SETX","SF3B4","SFTPB","SFTPC","SH2B3","SIK3","SKI","SKIC3","SLC10A1","SLC16A2","SLC17A9","SLC18A3","SLC1A3","SLC20A2","SLC25A1","SLC25A11","SLC25A13","SLC25A20","SLC25A24","SLC25A3","SLC26A4","SLC27A4","SLC29A3","SLC2A1","SLC2A10","SLC2A2","SLC30A10","SLC34A2","SLC35A1","SLC37A4","SLC39A13","SLC39A4","SLC44A1","SLC4A1","SLC51A","SLC51B","SLC5A5","SLC5A6","SLC5A7","SLC6A1","SLC6A19","SLCO1B1","SLCO1B3","SLFN14","SLURP1","SMAD2","SMAD3","SMAD4","SMARCA2","SMARCAD1","SMC1A","SMC3","SMPD1","SNAI2","SNAP25","SNORD115-1","SNORD116-1","SNX10","SOS1","SOX10","SOX18","SP110","SPEN","SPIB","SPINK1","SPINK5","SPOP","SPP1","SPRED2","SPRTN","SPTA1","SPTB","SPTBN1","SPTLC1","SPTLC2","SREBF1","SRSF2","STAG1","STAT3","STAT4","STAT5B","STIM1","STING1","STN1","STUB1","STX11","STX1A","STXBP1","STXBP2","SULT2B1","SUPT16H","SYK","SYNGAP1","SYT2","TALDO1","TARS1","TBL1XR1","TBL2","TBX1","TBX19","TBX20","TBXA2R","TCF4","TCIRG1","TERC","TERT","TET2","TFAM","TFAP2A","TFR2","TG","TGFB1","TGFB2","TGFB3","TGFBR1","TGFBR2","TGM1","TGM5","THSD4","TINF2","TLL1","TLR7","TMC6","TMC8","TMEM127","TMEM260","TMEM270","TNFAIP3","TNFRSF13B","TNFRSF13C","TNFRSF1A","TNFRSF1B","TNFSF11","TNFSF12","TNFSF15","TNFSF4","TNIP1","TNPO3","TNXB","TOP3A","TOR1A","TP53","TP63","TPI1","TPO","TRAF3IP2","TRAIP","TREX1","TRHR","TRMT10A","TRMU","TRPM4","TRPV3","TSC1","TSC2","TSHB","TSHR","TSPAN12","TTC26","TULP3","TWIST2","TXNDC15","TYMS","TYR","UBE2L3","UBE4B","UFD1","UGT1A1","UNC13D","UNC45A","UROD","UROS","USB1","USF3","USP18","USP48","USP53","USP8","UVSSA","VAMP1","VEGFC","VHL","VIPAS39","VPS33B","VPS37D","VPS53","VWF","WAS","WDR35","WIPF1","WNT10A","WRAP53","WRN","XPA","XPC","XPNPEP2","XPR1","XRCC4","YARS1","ZBTB16","ZFYVE19","ZIC3","ZMPSTE24","ZNF408","ZNF469","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LOCALIZED_SKIN_LESION":{"collection":"C5:HPO","systematicName":"M37830","pmid":"","exactSource":"HP:0011355","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011355","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOCALIZED_SKIN_LESION","geneSymbols":["AAGAB","ABCA1","ABCA4","ABCB6","ABCC6","ABCC9","ABCG5","ABCG8","ABL1","ACD","ACP5","ACTB","ACVR1","ADA2","ADAM10","ADAMTS2","ADAMTSL2","ADAR","ADNP","AEBP1","AFF3","AGBL5","AHI1","AHR","AIP","AIRE","AK2","AKT1","ALDH18A1","ALG9","ALPL","ALX1","ALX3","ALX4","ANAPC1","ANK1","ANKLE2","ANKRD11","ANTXR1","ANTXR2","AP1S3","APC","APOA1","APOA2","APOA5","APOB","APOC2","APOE","AQP5","ARF1","ARFGEF2","ARHGAP31","ARHGEF18","ARID1B","ARL2BP","ARL3","ARL6","ARL6IP6","ARMC5","ARVCF","ASAH1","ASXL1","ASXL2","ATIC","ATL1","ATL3","ATM","ATP2A2","ATP2C1","ATP6V1B2","ATP7A","ATRX","AUTS2","B2M","B3GALT6","B3GLCT","B4GALT7","B9D2","BAP1","BAZ1B","BBS1","BBS2","BCL2","BCL6","BCL7B","BCOR","BEST1","BGN","BICD2","BLM","BLOC1S5","BMS1","BRAF","BRCA1","BRCA2","BRF1","BRIP1","BTK","BTNL2","BUB1","BUB1B","BUB3","BUD23","C1R","C1S","C4A","CA4","CAMK2A","CAMK2G","CAPN15","CARD14","CARMIL2","CASZ1","CAV1","CBL","CC2D2A","CCDC22","CCL2","CCN2","CCR1","CCR6","CCT5","CD28","CD96","CDC42","CDH1","CDH11","CDH23","CDH3","CDHR1","CDK10","CDK13","CDK4","CDKN1A","CDKN1B","CDKN1C","CDKN2A","CDKN2B","CDKN2C","CEP57","CERKL","CETP","CFAP418","CFTR","CHD7","CHN1","CHRNA7","CHRNG","CHST14","CHUK","CIB1","CITED2","CLCN7","CLDN1","CLEC7A","CLIP2","CLPB","CLRN1","CLTRN","CNGA1","CNGB1","COL12A1","COL14A1","COL17A1","COL1A1","COL1A2","COL25A1","COL2A1","COL3A1","COL5A1","COL5A2","COL6A1","COL6A2","COL6A3","COL7A1","COLEC10","COMT","COPB1","COX7B","CPLX1","CPOX","CRB1","CREBBP","CRIPT","CRX","CSTA","CTBP1","CTC1","CTCF","CTLA4","CTNNB1","CTNND1","CTNND2","CTSC","CUL4B","CWC27","CYBA","CYBB","CYBC1","CYLD","CYP1B1","CYP26C1","CYP27A1","DACT1","DCHS1","DCLRE1C","DDB2","DDIT3","DDR2","DDX11","DEAF1","DHCR24","DHCR7","DHDDS","DHPS","DHX30","DHX38","DICER1","DIS3L2","DKC1","DLG4","DLL4","DNAJC21","DNAJC30","DOCK6","DOCK8","DPAGT1","DPP9","DPYSL5","DSC3","DSE","DSP","DST","DSTYK","DUT","DVL1","DVL3","DYRK1A","EBP","ECM1","EDA","EDAR","EDARADD","EDEM3","EDN1","EDN3","EDNRA","EDNRB","EED","EFTUD2","EGFR","EIF2AK3","EIF2AK4","EIF4H","ELANE","ELN","ELOVL4","ENPP1","EOGT","EP300","EPB42","EPHB4","EPHX2","ERAP1","ERCC1","ERCC2","ERCC3","ERCC4","ERCC5","ERCC6","ERCC8","ERF","ERGIC1","ERMARD","ESCO2","EXT2","EXTL3","EYA1","EYS","EZH2","F12","FAM161A","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FAS","FAT4","FBN1","FERMT1","FERMT3","FGF3","FGFR1","FGFR2","FGFR3","FGFRL1","FKBP10","FKBP14","FKBP6","FLCN","FLNA","FLNB","FLT4","FMR1","FN1","FOCAD","FRA10AC1","FSCN2","FUS","FUZ","FZD2","G6PC1","GABRD","GALC","GATA1","GATA4","GATA5","GATA6","GBA1","GBE1","GDF1","GFI1","GGCX","GHR","GJA1","GJA5","GJB2","GJB3","GJB4","GJB6","GLA","GLMN","GLS","GNA11","GNA14","GNAI3","GNAQ","GNAS","GNB2","GORAB","GP1BB","GPC3","GPC4","GPIHBP1","GPNMB","GRB10","GRHL3","GSC","GSN","GTF2I","GTF2IRD1","GTF2IRD2","GUCA1B","H1-4","H19","H4C3","H4C5","H4C9","HAVCR2","HBB","HCCS","HDAC8","HEATR3","HEPACAM","HEXB","HGSNAT","HIC1","HIRA","HK1","HLA-B","HLA-DPA1","HLA-DPB1","HLA-DQB1","HLA-DRB1","HMGA2","HNRNPK","HNRNPU","HOXA13","HPS1","HRAS","HSPA9","HSPG2","IARS2","IDH1","IDH2","IDH3A","IDH3B","IDS","IFNG","IFNGR1","IFT140","IFT172","IFT88","IGF1","IGF2","IKBKG","IKZF1","IL10","IL12A","IL12A-AS1","IL12B","IL17F","IL17RA","IL17RC","IL23R","IL36RN","IL6","IL6ST","IL7","IMPDH1","IMPG1","IMPG2","INSR","IPO8","IRF5","IRF6","IRX5","ITGA6","ITGB2","ITGB4","JAG1","JMJD1C","KANSL1","KAT6A","KCNAB2","KCNJ2","KCNK9","KCNQ1","KCNQ1OT1","KCTD1","KDF1","KDM5C","KDM6A","KDM6B","KDR","KDSR","KIAA0319L","KIAA1549","KIF11","KIF15","KIF1A","KIF1B","KIF7","KIT","KITLG","KIZ","KLHL24","KLHL7","KLLN","KLRC4","KMT2A","KMT2D","KRAS","KRT1","KRT10","KRT14","KRT16","KRT17","KRT2","KRT5","KRT6A","KRT6B","KRT83","LAMA3","LAMB3","LAMC2","LBR","LDHA","LDLR","LDLRAP1","LEMD3","LETM1","LIFR","LIG4","LIMK1","LIPC","LIPH","LMF1","LMNA","LORICRIN","LOX","LPAR6","LPIN2","LPL","LRAT","LRP1","LRP5","LSS","LTBP2","LTV1","LUZP1","LYST","LZTR1","MAD1L1","MAD2L2","MAFB","MAK","MAN1B1","MAN2C1","MAP1B","MAP2K1","MAP2K2","MAP3K7","MAPK1","MAPRE2","MASP1","MAX","MBTPS2","MC1R","MCTP2","MDM2","MED12","MED13L","MED25","MEFV","MEN1","MERTK","METTL27","MGMT","MGP","MID1","MITF","MLH1","MLX","MLXIPL","MMP1","MMP14","MMP2","MMP23B","MPDU1","MPL","MPV17","MRAS","MSH2","MSH6","MSL3","MSX1","MSX2","MTAP","MTOR","MVK","MYH3","MYOC","MYSM1","NAA10","NADSYN1","NAGA","NAXE","NBN","NCAPG2","NCF1","NCF2","NCF4","NCSTN","NDUFB11","NECTIN1","NEDD4L","NEK2","NEK9","NELFA","NF1","NF2","NFIX","NFKB1","NGF","NHP2","NKX2-5","NKX2-6","NLRP1","NLRP3","NOD2","NONO","NOP10","NOTCH1","NOTCH2","NOTCH3","NPHP3","NPM1","NR2E3","NR3C1","NRAS","NRL","NSD2","NSDHL","NSMCE2","NSUN2","NTRK1","NXN","OCA2","OCRL","ODC1","OFD1","ORC1","OTUD6B","OTULIN","P4HA2","PAFAH1B1","PALB2","PARN","PAX1","PAX3","PCARE","PCGF2","PCNT","PCSK9","PDE11A","PDE4D","PDE6A","PDE6B","PDE6G","PDGFB","PDGFRB","PDPN","PEPD","PERP","PGM3","PHIP","PIGA","PIGG","PIGL","PIGN","PIGS","PIK3CA","PIK3R1","PLAG1","PLCB4","PLEC","PLOD1","PLP1","PLXND1","PMS2","PMVK","POFUT1","POGLUT1","POLA1","POLD1","POLE","POLH","POLR1B","POLR1C","POLR1D","POLR3A","POMGNT1","POMP","PORCN","POT1","PPARG","PPOX","PPP1CB","PPP1R17","PRCD","PRDM16","PRKAR1A","PRKCD","PRKCZ","PRKD1","PRMT7","PROC","PROM1","PROS1","PRPF3","PRPF31","PRPF4","PRPF6","PRPF8","PRPH2","PRR12","PRTN3","PSAP","PSENEN","PSMB8","PSMD12","PSTPIP1","PTCH1","PTCH2","PTDSS1","PTEN","PTH1R","PTPN11","PTPN22","PUF60","PUS3","PYCR1","RAB23","RAD51","RAD51C","RAF1","RASA1","RASA2","RBBP8","RBCK1","RBM28","RBM8A","RBP3","RBPJ","RDH12","RECQL","RECQL4","REEP6","RERE","RET","RETREG1","REV3L","RFC2","RFWD3","RFX7","RGR","RHO","RHOA","RIPK4","RIT1","RLBP1","RMRP","ROM1","ROR2","RP1","RP1L1","RP2","RP9","RPE65","RPGR","RPL10","RRAS","RRAS2","RREB1","RTEL1","SAG","SALL1","SALL4","SASH1","SATB2","SBF2","SCAPER","SCARF2","SCN9A","SCYL2","SDHB","SDHC","SDHD","SEC23B","SEC24C","SEMA3E","SEMA4A","SEMA5A","SET","SETBP1","SETD5","SF3B2","SF3B4","SH3PXD2B","SHANK3","SHOC2","SIX1","SIX5","SKI","SKIC2","SKIC3","SLC17A9","SLC25A24","SLC26A2","SLC29A3","SLC2A10","SLC35C1","SLC37A4","SLC39A13","SLC39A4","SLC45A2","SLC4A1","SLC6A19","SLC7A14","SLC9A1","SLF2","SLURP1","SLX4","SMAD2","SMAD3","SMARCA2","SMARCAD1","SMARCAL1","SMC3","SMC5","SMG9","SMO","SMOC1","SMPD1","SNAI2","SNRNP200","SNRPN","SOS1","SOS2","SOX10","SOX18","SOX9","SPATA7","SPECC1L","SPEN","SPOP","SPRED1","SPRED2","SPTA1","SPTB","SPTBN1","SPTLC1","SPTLC2","SRP19","SRP54","ST3GAL5","STAG2","STAMBP","STAT3","STAT4","STEAP3","STK11","STX1A","SUFU","SUGCT","SUZ12","SVBP","SYK","SYT1","TAF1","TAP1","TAP2","TAPBP","TASP1","TBL2","TBX1","TBX4","TBXT","TCF4","TCIRG1","TCOF1","TEK","TERC","TERF2IP","TERT","TFAP2A","TGFB2","TGFB3","TGFBR1","TGFBR2","TGM5","THPO","TINF2","TLR4","TMC6","TMC8","TMCO1","TMEM127","TMEM260","TMEM270","TMTC3","TNFRSF11A","TNFRSF11B","TNFRSF1A","TNFRSF1B","TNXB","TOP3A","TOPORS","TP53","TP53RK","TP63","TRAF3IP2","TRAF6","TREX1","TRIM37","TRIP13","TRPM3","TRPM4","TRPV3","TSC1","TSC2","TTC8","TTPA","TUB","TUBB","TULP1","TWIST2","TXNL4A","TYMS","TYR","TYRP1","UBA1","UBA2","UBAC2","UBE2A","UBE2T","UBE3B","UBE4B","UBR1","UFD1","UROD","UROS","USB1","USF3","USH2A","USP48","USP8","USP9X","VANGL1","VANGL2","VHL","VPS13B","VPS35L","VPS37D","WAS","WASF1","WASHC5","WBP11","WDR1","WIPF1","WLS","WNK1","WNT10A","WNT5A","WRAP53","WRN","XPA","XPC","XRCC2","XYLT1","XYLT2","YWHAE","ZFHX4","ZFPM2","ZIC3","ZMPSTE24","ZNF408","ZNF462","ZNF469","ZNF513","ZNF668","ZNF699","ZNRF3","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_REGIONAL_ABNORMALITY_OF_SKIN":{"collection":"C5:HPO","systematicName":"M37831","pmid":"","exactSource":"HP:0011356","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011356","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REGIONAL_ABNORMALITY_OF_SKIN","geneSymbols":["AAAS","AAGAB","ABCA12","ABCC9","ACTC1","ACTN2","ACVRL1","ADAM17","ADAMTSL1","ADGRG6","ADNP","AFF3","AIP","AKT1","ALDH6A1","ALOX12B","ALOXE3","ALPK3","ANAPC1","ANKRD1","ANKRD11","AP1B1","AP1S3","APC","AQP5","ARID1B","ARL3","ASXL1","ASXL2","ASXL3","ATN1","ATP2A2","ATP6V0A2","ATP6V1B2","ATR","AUTS2","B3GLCT","B4GALT7","BAG3","BAG5","BAZ1B","BCL7B","BCOR","BHLHA9","BICD2","BLM","BMP4","BMPR1B","BRAF","BRD4","BRF1","BUD23","C1R","CAP2","CARD14","CAST","CBL","CCBE1","CCDC22","CCDC32","CCNQ","CD28","CD4","CD96","CDC42BPB","CDK10","CDK19","CDSN","CEBPE","CEP55","CEP57","CERS3","CFTR","CHD1","CHD7","CHRNA1","CHRND","CHRNG","CHST14","CHST3","CHUK","CIB1","CILK1","CKAP2L","CLCN7","CLIP2","COG1","COG6","COL14A1","COL17A1","COL25A1","COL7A1","COX14","COX7B","CPLX1","CREBBP","CRYAB","CSGALNACT1","CSNK2A1","CSRP3","CST6","CSTA","CTBP1","CTC1","CTCF","CTLA4","CTSB","CTSC","CYP27A1","CYP4F22","DDB2","DDX11","DEAF1","DES","DHCR7","DHODH","DHX30","DIS3L2","DKC1","DLK1","DLX4","DMD","DNAJC30","DOCK6","DOK7","DOLK","DPAGT1","DPH1","DPH2","DPYD","DSC2","DSE","DSG1","DSG2","DSP","DST","EFNB1","EHMT1","EIF4H","ELN","EMC1","ENPP1","EP300","ERCC2","ERCC3","ERCC4","ERCC5","ERCC6","ERGIC1","ESCO2","EXT1","EXTL3","EYA1","EZH2","FBXO28","FERMT1","FGD1","FGF9","FGFR2","FGFR3","FGFRL1","FHL2","FIG4","FKBP10","FKBP6","FKTN","FLG","FLNA","FLVCR2","FOXP1","FOXP2","G6PC3","GATA1","GATAD1","GDF5","GJA1","GJA5","GJA8","GJB2","GJB3","GJB4","GJB6","GLE1","GLYCTK","GMPPA","GNB2","GPC6","GPKOW","GPR101","GPR35","GRHL2","GRIN1","GSN","GTF2I","GTF2IRD1","GTF2IRD2","H3-3A","H3-3B","H4C5","H4C9","HAND2","HCCS","HDAC4","HDAC8","HNRNPH2","HNRNPK","HOXA13","HPGD","HRAS","HSPG2","IFNG","IFT122","IFT43","IFT57","IGF1","IGF2","IL1R1","IL36RN","IL6ST","IRF6","IRX5","ITCH","ITGA6","ITGB4","IVNS1ABP","JARID2","JPH2","JUP","KANK2","KANSL1","KAT6B","KATNB1","KCNH1","KCNJ8","KCNK9","KCNMA1","KCNN3","KDF1","KDM4B","KDM6A","KDSR","KIF14","KIF1A","KIF21A","KLHL24","KLLN","KMT2A","KMT2D","KPTN","KRAS","KRT1","KRT10","KRT14","KRT16","KRT17","KRT2","KRT5","KRT6A","KRT6B","KRT6C","KRT74","KRT83","KRT9","LAMA3","LAMA4","LAMB3","LAMC2","LBR","LDB3","LDHA","LETM1","LIFR","LIG4","LIMK1","LMNA","LMOD2","LMX1B","LONP1","LORICRIN","LRP4","LSS","LTBP1","LTBP4","LZTR1","MAP1B","MAP2K1","MAP2K2","MAP3K7","MBTPS2","MCOLN1","MCTP2","MED12","MED12L","MED25","MEF2C","MEG3","MEGF8","METTL27","MLXIPL","MMP1","MMP14","MMP2","MRAS","MSL3","MST1","MT-TS1","MTFMT","MTOR","MTX2","MUSK","MYBPC3","MYH3","MYH6","MYH7","MYOD1","MYPN","NAA10","NAA20","NALCN","NBAS","NCF1","NDE1","NDUFB11","NECTIN1","NECTIN4","NEXMIF","NEXN","NFIX","NFKB2","NGLY1","NHP2","NIPAL4","NIPBL","NLRP1","NOG","NOP10","NPM1","NR2F1","NRAS","NSD2","NSDHL","NUP107","NUP188","NUP88","NXN","OTUD5","PACS1","PAK3","PARN","PAX1","PDGFRB","PDHA1","PEPD","PERP","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PGM2L1","PHGDH","PIEZO2","PIGL","PIGN","PIGQ","PIGS","PIK3CA","PITX1","PKDCC","PKP1","PLAA","PLEC","PLN","PLOD1","PLOD2","PLOD3","PNPLA1","PNPLA6","POFUT1","POGLUT1","POLRMT","POMP","PORCN","POU1F1","PPCS","PPP2CA","PPP2R3C","PPP3CA","PRDM16","PRKD1","PRR12","PSEN1","PSEN2","PSENEN","PTCH1","PTCH2","PTEN","PTPN11","PTPRF","PUF60","RAB11B","RAB3GAP1","RAB3GAP2","RAD21","RAF1","RAPSN","RASA2","RB1","RBM10","RBM20","RECQL4","RETREG1","RFC2","RHBDF2","RIN2","RIPK4","RIT1","RNU4ATAC","ROR2","RPL10","RPL3L","RPS23","RPS6KA3","RRAS","RRAS2","RSPO1","RTEL1","RTL1","RUSC2","SALL4","SASH1","SCN5A","SCN9A","SCYL2","SDHA","SDHB","SDHC","SDHD","SDR9C7","SEC23B","SEMA4D","SEPSECS","SERPINA12","SERPINB7","SET","SETBP1","SGCD","SHOC2","SLC18A3","SLC25A12","SLC25A24","SLC39A13","SLC39A4","SLCO2A1","SLURP1","SMAD2","SMARCA2","SMARCAD1","SMC1A","SMC3","SMC5","SMOC1","SMPD4","SMS","SNAP29","SOS1","SOS2","SOX18","SPECC1L","SPRED2","SPRTN","SPTBN1","SRD5A3","STAG1","STAT3","STING1","STS","STX1A","STXBP1","SUFU","SULT2B1","TAF1A","TAF6","TAFAZZIN","TASP1","TAT","TBL1XR1","TBL2","TBX4","TCAP","TCF12","TCF4","TELO2","TERC","TERT","TFAP2A","TGDS","TGM1","TGM5","THOC2","TINF2","TMEM147","TMEM270","TMPO","TNFRSF1B","TNNC1","TNNI2","TNNI3","TNNT2","TNNT3","TOE1","TP63","TPM1","TPM2","TRAPPC11","TRIM37","TRIM8","TRIO","TRPM4","TRPS1","TRPV3","TSC1","TSC2","TSEN15","TSEN2","TSEN34","TSEN54","TSHR","TTN","TUBA1A","TWIST1","TWIST2","TXNRD2","TYMS","UBE3B","UBR1","UBR7","UFC1","USB1","USF3","VAC14","VCL","VEZF1","VPS13B","VPS33A","VPS33B","VPS37D","VPS51","WAC","WDR37","WNK1","WNT10A","WRAP53","XPA","XPC","XYLT1","YY1","ZC4H2","ZMYM2","ZNF292","ZNF407","ZNF462","ZNF469"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_GENERALIZED_HYPOPIGMENTATION_OF_HAIR":{"collection":"C5:HPO","systematicName":"M37832","pmid":"","exactSource":"HP:0011358","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011358","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENERALIZED_HYPOPIGMENTATION_OF_HAIR","geneSymbols":["ABCA2","ACD","AP3B1","BLOC1S3","BLOC1S5","CTC1","DKC1","DPP9","DSTYK","GNPTAB","IFT140","KANSL1","KITLG","LPAR6","LYST","MC1R","MLPH","MOGS","MYO5A","NHP2","NOP10","NPM1","OCA2","PADI3","PAH","PARN","PAX3","PDE4D","PIGN","RAB27A","RMRP","RTEL1","SLC17A5","SLC24A5","SLC45A2","SNRPN","TAFAZZIN","TERC","TERT","TGM3","TINF2","TP63","TYMS","TYR","TYRP1","UBE3A","UBR1","USB1","WRAP53"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DRY_HAIR":{"collection":"C5:HPO","systematicName":"M37833","pmid":"","exactSource":"HP:0011359","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011359","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DRY_HAIR","geneSymbols":["ARID1B","ASL","BCS1L","ERCC6","ERCC8","FOCAD","GJA1","GNPTAB","KRT17","KRT74","LPAR6","OFD1","PADI3","PQBP1","RPL21","SMARCA2","SVBP","WNT10A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ACQUIRED_ABNORMAL_HAIR_PATTERN":{"collection":"C5:HPO","systematicName":"M37834","pmid":"","exactSource":"HP:0011360","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011360","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACQUIRED_ABNORMAL_HAIR_PATTERN","geneSymbols":["ABCD1","ALMS1","ANTXR1","AP2M1","APC","BLM","CHD2","CNBP","COL17A1","DMPK","DSG4","EBP","ECM1","EXOSC2","GJA5","GJA8","HR","HRAS","IKBKG","IL2RA","ITGB4","KCTD1","KDM5C","KRT81","KRT83","KRT86","LAMB3","LMNA","NECTIN4","NEXMIF","NR3C1","PADI3","PORCN","PQBP1","SCN1A","SLC2A1","SLC6A1","SYNGAP1","TGM3","TP63","TRAC","WNT4","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CONGENITAL_ABNORMAL_HAIR_PATTERN":{"collection":"C5:HPO","systematicName":"M46199","pmid":"","exactSource":"HP:0011361","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011361","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONGENITAL_ABNORMAL_HAIR_PATTERN","geneSymbols":["ABCC9","ACTB","ACTG1","ADA2","ADARB1","ADNP","AEBP1","AGPAT2","AIFM1","ALDOA","ALG11","ALG12","ALG9","ALX1","ALX3","ANKRD11","ANKRD17","APC","APC2","ARHGEF2","ARID1A","ARID1B","ARID2","ARX","ASH1L","ASXL1","ATP6V1B2","B3GAT3","BICRA","BRAF","BRCA1","BRD4","BSCL2","CAMK2A","CAMTA1","CAV1","CAVIN1","CBL","CCDC22","CCNK","CDC42BPB","CDH1","CDH2","CDK13","CDK5","CHN1","CHRNG","CHST3","CIT","CLCN3","CNOT3","COG5","COG7","CPLX1","CPOX","CREBBP","CTBP1","CWC27","DEAF1","DHX30","DLX4","DOCK6","DOCK7","DPF2","DPH2","DPM2","EDEM3","EFNB1","EMC1","EP300","ERMARD","FAT4","FGD1","FGFR2","FGFR3","FGFRL1","FKRP","FLNA","FOS","FOXP1","FRAS1","FREM1","FREM2","FRMD4A","FRMPD4","GATA1","GDF11","GDF3","GDF6","GMPPA","GNB2","GNE","H1-4","H3-3A","H4C5","HDAC4","HDAC8","HEATR3","HERC2","HNF1B","HRAS","HS2ST1","HSPG2","HUWE1","HYOU1","IFIH1","IFT140","IGF1","INSR","INTU","IRX5","JARID2","KCNH1","KCNJ8","KCNN3","KDM1A","KDM4B","KMT2A","KNSTRN","KRAS","KREMEN1","KRT85","LETM1","LIG4","LMNA","LMX1B","LRP2","LRPPRC","LZTR1","MAB21L1","MADD","MAFB","MAGEL2","MAN1B1","MAN2B1","MAP2K1","MAP2K2","MAP3K7","MAPK1","MAPRE2","MBD5","MED12","MED13L","MED27","MEGF8","MEIS2","MEOX1","MID1","MKRN3","MRAS","MYH3","MYO18B","NANS","NBN","NELFA","NEPRO","NF1","NFIX","NIPBL","NOTCH2","NOTCH3","NOVA2","NPAP1","NRAS","NSD1","NSD2","NSUN2","NUDT2","OGT","PACS1","PEPD","PEX1","PEX19","PEX6","PGAP1","PHF8","PIGG","PIGK","PIK3C2A","PIK3CD","POLA1","POLR1B","POLR1C","POLR1D","PPARG","PPP1CB","PPP1R15B","PPP2R1A","PPP2R3C","PRDM13","PRKD1","PTPN11","PWAR1","PWRN1","RAB18","RAB3GAP1","RAB3GAP2","RAD21","RAF1","RALGAPA1","RASA2","RBL2","RERE","RHOBTB2","RIT1","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS7","RRAS","RRAS2","SALL4","SATB1","SCNM1","SETD2","SETD5","SH2B1","SHOC2","SIN3A","SLC12A6","SLC25A24","SLC35C1","SLC9A7","SMARCA2","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SMC1A","SMC3","SMO","SMPD4","SNORD115-1","SNORD116-1","SOS1","SOS2","SOX11","SOX4","SPATA5L1","SPECC1L","SPEN","SPOP","SPRED1","SPRED2","SRCAP","SRY","STAG2","STAMBP","STT3A","SVBP","SYT1","TAF6","TBC1D20","TBC1D24","TBL1XR1","TBX15","TBX2","TCF12","TCF4","TCOF1","TECPR2","TFAP2A","THOC6","TMCO1","TRAF7","TRIO","TRMT10A","TRPM3","TSC1","TSR2","TTC5","TWIST1","TWIST2","UBE2A","UBR1","UGP2","USB1","VPS13B","VPS33A","VPS51","WASHC5","WBP11","WNT4","WRN","XRCC4","XYLT2","YY1","ZC4H2","ZIC1","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_HAIR_QUANTITY":{"collection":"C5:HPO","systematicName":"M37836","pmid":"","exactSource":"HP:0011362","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011362","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_HAIR_QUANTITY","geneSymbols":["AARS1","ABCA12","ABCA5","ABCC9","ABCD1","ABHD5","ACD","ACVR1","ADA","ADAMTS2","ADAMTS3","ADAT3","ADNP","AEBP1","AFF3","AFF4","AGPAT2","AHSG","AIMP2","AIP","AIRE","AKT1","ALDH18A1","ALDH6A1","ALG9","ALMS1","ALOX12B","ALOXE3","ALX1","ALX4","AMMECR1","ANAPC1","ANKRD11","ANOS1","ANTXR1","AP1B1","APC2","APCDD1","APOE","AR","ARHGAP31","ARID1A","ARID1B","ARID2","ARL3","ARL6","ARMC5","ARSB","ARX","ASH1L","ASL","ASPRV1","ASXL1","ASXL2","ASXL3","ATP2B1","ATP6V0A2","ATP6V1A","ATP6V1B2","ATP6V1E1","ATP7A","ATR","ATRIP","ATRX","AXIN2","AXL","B3GALT6","B3GLCT","B4GALT7","BANF1","BANK1","BAP1","BBIP1","BBS1","BBS10","BBS12","BBS2","BBS4","BBS5","BBS7","BBS9","BCAS3","BCL11B","BCORL1","BCS1L","BGN","BICRA","BLK","BLM","BMP1","BMP15","BMP2","BNC1","BPTF","BRAF","BRCA1","BRD4","BRF1","BSCL2","BTD","BTK","BTNL2","C18orf32","C3orf52","C4A","C4B","CACNA1C","CACNA1G","CAMK2B","CANT1","CAPN15","CARS1","CASR","CASZ1","CAV1","CAVIN1","CBL","CBS","CCBE1","CCDC141","CCDC28B","CCDC47","CD28","CDC42","CDC42BPB","CDH1","CDH11","CDH2","CDH23","CDH3","CDK10","CDK5","CDKL5","CDKN2A","CDON","CDSN","CENPE","CENPJ","CEP152","CEP19","CEP290","CEP57","CERS3","CERT1","CFAP418","CHD5","CHD7","CHMP1A","CHRNA7","CHSY1","CKAP2L","CLCN3","CLDN1","CLMP","CLN3","CLP1","CNOT2","CNP","COG4","COG7","COL11A1","COL17A1","COL18A1","COL3A1","COL7A1","COPB1","COX5A","CPOX","CR2","CREBBP","CRIPT","CSGALNACT1","CSNK2A1","CST6","CSTB","CTC1","CTCF","CTLA4","CTNNB1","CTNND1","CTSC","CUL4B","CWC27","CWF19L1","CYB5A","CYP11B1","CYP17A1","CYP19A1","CYP4F22","DCAF17","DCLRE1B","DCLRE1C","DDB1","DDB2","DEAF1","DHX30","DHX37","DKC1","DLK1","DLL4","DLX3","DLX4","DMRT3","DMXL2","DNA2","DNAJC21","DNASE1","DNMT3A","DOCK6","DOCK7","DOLK","DPAGT1","DPF2","DPH1","DPH2","DPH5","DSC3","DSG1","DSG4","DSP","DUSP6","DVL1","DVL3","DYNC2LI1","EBF3","EBP","ECM1","EDA","EDA2R","EDAR","EDARADD","EDN3","EDNRA","EDNRB","EHMT1","EIF5A","ELMO2","EMC10","EOGT","EP300","EPS8L3","ERCC2","ERCC3","ERCC4","ERCC5","ERCC6","ERCC8","ERLIN2","ESCO2","ETS1","EVC","EVC2","EXOSC2","EXT1","EXT2","EZH2","FAM111B","FAS","FAT4","FBXO28","FBXO31","FCGR2B","FCGR3B","FEZF1","FGF10","FGF17","FGF3","FGF8","FGFR1","FGFR2","FHL1","FIG4","FLI1","FLII","FLNA","FMR1","FOS","FOXE1","FOXL2","FOXN1","FOXP3","FRA10AC1","FRAS1","FREM1","FRMD4A","FSHB","FSHR","FTL","FUT8","FZD2","GABRA3","GABRD","GATA1","GATA4","GATAD2B","GJA1","GJA5","GJA8","GJB2","GJB3","GJB4","GJB6","GLB1","GLI1","GLI3","GNA11","GNA14","GNAS","GNB2","GNE","GNPTAB","GNRH1","GNRHR","GNS","GPC3","GPC4","GPR101","GSN","GTF2E2","GTF2H5","GTPBP2","GUSB","H3-3B","H6PD","HDAC4","HDAC8","HEATR3","HECTD4","HEPHL1","HFE","HGSNAT","HID1","HIVEP2","HLA-B","HLA-DQA1","HLA-DQB1","HLA-DRA","HLA-DRB1","HLCS","HMGA2","HNRNPR","HNRNPU","HOXC13","HPD","HPGD","HR","HRAS","HRURF","HS6ST1","HSD3B2","HSPA9","HSPG2","HTRA1","IDS","IDUA","IFT122","IFT140","IFT172","IFT27","IFT43","IFT52","IFT74","IGF1R","IGHG1","IKBKG","IL10","IL1RAPL1","IL2RA","IL2RG","IL6ST","IL7R","INSR","IPO8","IQSEC2","IRAK1","IRF5","IRF6","IRX5","ITGA3","ITGAM","ITGB4","ITGB6","JARID2","JAZF1","JUP","KANK2","KANSL1","KAT6B","KATNB1","KCNAB2","KCNH1","KCNJ8","KCNK4","KCNMA1","KCNN3","KCTD1","KDF1","KDM1A","KDM4B","KDM5C","KDM6A","KDSR","KIAA0319L","KIAA0753","KIF26A","KIFBP","KISS1","KISS1R","KIT","KLF13","KLHL24","KMT2A","KMT2B","KMT2D","KNL1","KNSTRN","KRAS","KREMEN1","KRT10","KRT14","KRT16","KRT17","KRT25","KRT5","KRT6A","KRT6B","KRT71","KRT74","KRT81","KRT83","KRT85","KRT86","LAMA3","LAMB3","LAMC2","LEMD3","LHB","LIFR","LIG4","LIPH","LIPN","LMNA","LMNB2","LORICRIN","LPAR6","LRP1","LRPPRC","LSS","LTBP3","LTV1","LUZP1","LZTFL1","LZTR1","MAB21L1","MAF","MAN2B1","MAP1B","MAP2K1","MAP2K2","MAP3K1","MAP3K7","MAPK1","MAPK8IP3","MAPKAPK5","MAPRE2","MARS1","MASP1","MBD5","MBTPS2","MC1R","MCCC2","MDM2","MECP2","MED12","MED13","MED25","MED27","MEG3","MEN1","MESD","MGAT2","MGP","MITF","MKKS","MKS1","MMP1","MMP14","MMP2","MMP23B","MOGS","MPLKIP","MRAS","MRPS22","MSH4","MSTO1","MSX1","MT-CO1","MT-CO2","MT-CO3","MT-ND1","MT-ND4","MT-ND5","MT-ND6","MT-TF","MT-TH","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TW","MTX2","NAGLU","NANS","NBN","NDST1","NDUFA12","NDUFA6","NDUFAF6","NECTIN1","NECTIN4","NEK1","NEPRO","NEU1","NF1","NFIX","NFKB1","NFKB2","NFKBIA","NHLH2","NHP2","NIPAL4","NIPBL","NKX6-2","NMNAT1","NOP10","NOTCH1","NOTCH2","NPHP1","NPM1","NR0B1","NR3C1","NR5A1","NRAS","NSD1","NSDHL","NSMF","NSRP1","NSUN2","NTRK1","NUDT2","NUP107","NUP85","NUS1","NXN","OCRL","ODC1","OFD1","OGT","ORC6","OTUD5","P4HA2","PACS1","PACS2","PADI3","PAPSS2","PARN","PAX3","PCDHGC4","PCGF2","PCNT","PDCD1","PDE11A","PDGFRB","PDPN","PEPD","PERP","PEX1","PEX6","PEX7","PGM2L1","PHF6","PHF8","PHGDH","PHIP","PI4KA","PIGL","PIGN","PIGU","PIK3CD","PIK3R1","PKP1","PLAA","PLEC","PLK4","PNPLA1","PNPLA6","POC1A","POGZ","POLR1B","POLR1C","POLR1D","POLR3A","POLR3H","POP1","POR","PORCN","PPARG","PPOX","PPP1CB","PPP1R15B","PPP1R21","PPP2R3C","PQBP1","PRDM16","PRIM1","PRKACA","PRKACB","PRKAR1A","PRKCD","PRKCZ","PRKD1","PRKG2","PRMT7","PROK2","PROKR2","PRPS1","PRR12","PSMB8","PSMC3","PSMC3IP","PSMD12","PTCH1","PTDSS1","PTEN","PTPN11","PTPN22","PUF60","PXK","PYCR1","RAB18","RAB3GAP1","RAB3GAP2","RAC1","RAD21","RAF1","RAG1","RAG2","RAI1","RASA2","RBBP8","RBM28","RBPJ","RECQL","RECQL4","RERE","RHOA","RIN2","RIPK4","RIT1","RMRP","RNF113A","RNF125","RNU12","RNU4ATAC","ROR2","RPL10","RPL21","RPS23","RRAS","RRAS2","RTEL1","RTL1","RUSC2","SASH1","SAT1","SATB2","SCAPER","SCLT1","SCN4A","SDCCAG8","SDR9C7","SEC23A","SEMA3E","SETBP1","SETD2","SETD5","SF3B4","SGSH","SHOC2","SHROOM4","SKI","SKIC2","SKIC3","SLC1A4","SLC25A12","SLC25A24","SLC27A4","SLC29A3","SLC30A2","SLC39A4","SLC7A7","SLCO2A1","SLITRK1","SMAD4","SMARCA2","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCD2","SMARCE1","SMC1A","SMC3","SMCHD1","SMO","SMPD4","SMS","SNAI2","SNRPE","SNX14","SOS1","SOS2","SOX10","SOX11","SOX18","SOX4","SOX6","SOX9","SPATA5","SPEN","SPIDR","SPINK5","SPOP","SPP1","SPRED2","SPRTN","SPRY4","SPTBN1","SRA1","SRCAP","SRD5A3","SREBF1","SRY","ST14","STAG1","STAT4","STING1","STUB1","SUCLA2","SULT2B1","SUZ12","TAC3","TACR3","TAF1","TAF6","TALDO1","TARS1","TASP1","TBC1D20","TBCD","TBCK","TBX15","TBX3","TCOF1","TERC","TERT","TFAP2A","TFE3","TGM1","TGM3","THUMPD1","TINF2","TLK2","TLR7","TMCO1","TMEM147","TMEM94","TNFAIP3","TNFRSF1B","TNFSF4","TNIP1","TOE1","TOGARAM1","TP53","TP63","TRAC","TRAF6","TRAIP","TRAPPC10","TRAPPC9","TREX1","TRIM32","TRIM8","TRIO","TRMT1","TRMT10A","TRPS1","TRPV3","TSPEAR","TSR2","TTC5","TTC7A","TTC8","TTI2","TUBB","TUBGCP2","TWIST1","TWIST2","TYMS","UBA2","UBE2A","UBE2L3","UBE3B","UBE4B","UBR1","UBR7","UFC1","UGDH","UGP2","UQCC2","UQCRFS1","UROD","UROS","USB1","USP48","USP8","USP9X","VAC14","VAMP7","VDR","VPS13B","VPS33A","VPS37A","WAC","WARS1","WASHC4","WBP11","WDPCP","WDR11","WDR19","WDR35","WDR81","WLS","WNT10A","WNT10B","WNT4","WNT5A","WRAP53","WRN","WT1","WWOX","XPA","XPC","XRCC4","XYLT1","ZBTB20","ZFPM2","ZIC2","ZMPSTE24","ZMYND11","ZNF292","ZNF341","ZNF407","ZNF699","ZNF711","ZNRF3","ZPR1","ZSWIM7"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_WHITE_HAIR":{"collection":"C5:HPO","systematicName":"M37837","pmid":"","exactSource":"HP:0011364","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011364","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WHITE_HAIR","geneSymbols":["CTC1","DKC1","GNPTAB","KITLG","MC1R","MYO5A","NHP2","NOP10","NPM1","OCA2","PADI3","PARN","PAX3","RTEL1","SLC45A2","TERC","TERT","TGM3","TINF2","TYMS","TYR","USB1","WRAP53"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PATCHY_HYPOPIGMENTATION_OF_HAIR":{"collection":"C5:HPO","systematicName":"M37838","pmid":"","exactSource":"HP:0011365","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011365","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PATCHY_HYPOPIGMENTATION_OF_HAIR","geneSymbols":["CHN1","EDN3","EDNRB","FAS","HRAS","KIT","KITLG","LMNA","MAFB","MITF","PAX3","PEPD","PTPN22","SALL4","SNAI2","SOX10","TERT","TFAP2A","TMCO1","TYR","WRN"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RECURRENT_CUTANEOUS_FUNGAL_INFECTIONS":{"collection":"C5:HPO","systematicName":"M45443","pmid":"","exactSource":"HP:0011370","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011370","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_CUTANEOUS_FUNGAL_INFECTIONS","geneSymbols":["ADA","AIRE","AP3B1","ATRX","BRAF","CARD9","CARMIL2","CD247","CD3D","CD3E","CD3G","CD40LG","CDH23","CIITA","CLEC7A","CORO1A","DCLRE1C","DOCK2","EPG5","GJB2","GJB6","IKBKB","IKBKG","IL17F","IL17RA","IL17RC","IL2RA","IL2RG","IL6ST","IL7R","ITGB2","JAK3","KNSTRN","LCK","MVK","NFKBIA","NR3C1","PGM3","PIK3CD","RFX5","RFXANK","RFXAP","RORC","SP110","SREBF1","STAT1","STAT3","STK4","TFRC","TLR8","TOM1","TP53","TRAC","TRAF3IP2","USP48","USP8","WDR1","ZAP70","ZNF341"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MORPHOLOGICAL_ABNORMALITY_OF_THE_VESTIBULE_OF_THE_INNER_EAR":{"collection":"C5:HPO","systematicName":"M37839","pmid":"","exactSource":"HP:0011376","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011376","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MORPHOLOGICAL_ABNORMALITY_OF_THE_VESTIBULE_OF_THE_INNER_EAR","geneSymbols":["CBL","CHD7","ESRP1","EYA1","FGFR2","FOXI1","FOXP2","GREB1L","HRAS","KCNJ10","KRAS","LZTR1","MAP3K7","MRAS","NRAS","PI4KB","PTPN11","RAF1","RASA2","RIT1","RRAS","RRAS2","SEMA3E","SIX1","SLC26A4","SOS1","SOS2","SOX10","SPRED2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MORPHOLOGICAL_ABNORMALITY_OF_THE_SEMICIRCULAR_CANAL":{"collection":"C5:HPO","systematicName":"M46201","pmid":"","exactSource":"HP:0011380","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011380","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MORPHOLOGICAL_ABNORMALITY_OF_THE_SEMICIRCULAR_CANAL","geneSymbols":["CBL","CHD7","ESRP1","FGFR2","FOXP2","GREB1L","KRAS","LZTR1","MRAS","NRAS","PTPN11","RAF1","RASA2","RIT1","RRAS","RRAS2","SEMA3E","SOS1","SOS2","SOX10","SPRED2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APLASIA_OF_THE_SEMICIRCULAR_CANAL":{"collection":"C5:HPO","systematicName":"M37840","pmid":"","exactSource":"HP:0011381","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011381","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_OF_THE_SEMICIRCULAR_CANAL","geneSymbols":["CBL","CHD7","KRAS","LZTR1","MRAS","NRAS","PTPN11","RAF1","RASA2","RIT1","RRAS","RRAS2","SOS1","SOS2","SOX10","SPRED2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_INTERNAL_AUDITORY_CANAL":{"collection":"C5:HPO","systematicName":"M37841","pmid":"","exactSource":"HP:0011384","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011384","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_INTERNAL_AUDITORY_CANAL","geneSymbols":["AKT1","CHN1","ERF","EYA1","FGFR2","FGFR3","GJB2","GJB6","MAFB","OTX2","POLR1B","POLR1C","POLR1D","POU3F4","PRRX1","PTEN","SALL4","SIX1","TCOF1","TWIST1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NARROW_INTERNAL_AUDITORY_CANAL":{"collection":"C5:HPO","systematicName":"M37842","pmid":"","exactSource":"HP:0011386","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011386","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NARROW_INTERNAL_AUDITORY_CANAL","geneSymbols":["AKT1","CHN1","ERF","FGFR2","FGFR3","MAFB","OTX2","POLR1B","POLR1C","POLR1D","PRRX1","PTEN","SALL4","TCOF1","TWIST1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ENLARGED_VESTIBULAR_AQUEDUCT":{"collection":"C5:HPO","systematicName":"M46202","pmid":"","exactSource":"HP:0011387","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011387","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ENLARGED_VESTIBULAR_AQUEDUCT","geneSymbols":["EYA1","FOXI1","HRAS","KCNJ10","MAP3K7","PI4KB","SIX1","SLC26A4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FUNCTIONAL_ABNORMALITY_OF_THE_INNER_EAR":{"collection":"C5:HPO","systematicName":"M43398","pmid":"","exactSource":"HP:0011389","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011389","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FUNCTIONAL_ABNORMALITY_OF_THE_INNER_EAR","geneSymbols":["AAAS","AARS1","ABCA4","ABCC1","ABCC6","ABCC9","ABCD1","ABHD12","ABHD5","ACO2","ACOX1","ACTB","ACTC1","ACTG1","ACTN2","ACVR1","ACY1","ADA2","ADAMTSL1","ADCY1","ADGRV1","ADK","ADPRS","AFF4","AGBL5","AGRN","AHI1","AHR","AIFM1","AIP","ALDH18A1","ALG11","ALG12","ALG2","ALMS1","AMMECR1","ANKH","ANKRD1","ANOS1","AP1B1","AP1S1","AP1S2","AP3D1","ARHGDIA","ARHGEF18","ARID1B","ARL2BP","ARL3","ARL6","ARNT2","ARSA","ARSG","ARSL","ARX","ASAH1","ASCL1","ASH1L","ATG7","ATP11A","ATP1A2","ATP1A3","ATP2B2","ATP5F1A","ATP5F1D","ATP5F1E","ATP5MK","ATP6AP1","ATP6V0A4","ATP6V1B1","ATP6V1B2","ATP7A","ATPAF1","ATPAF2","ATRX","ATXN3","B3GALT6","BAG3","BAG5","BAZ1B","BBS1","BBS2","BCAP31","BCL7B","BCOR","BCR","BCS1L","BDP1","BEAN1","BEST1","BICRA","BMP4","BRAF","BRD4","BSND","BTD","BTK","BTRC","BUD23","C1QBP","C4A","CA4","CACNA1A","CACNA1G","CACNB4","CALM1","CALM2","CALM3","CAP2","CARS1","CASK","CASQ2","CASZ1","CAT","CATSPER2","CBL","CC2D2A","CCBE1","CCDC141","CCDC50","CCND1","CCR1","CD109","CD151","CD164","CDC14A","CDC42","CDC42BPB","CDC45","CDH11","CDH23","CDHR1","CDK5RAP2","CDK8","CDON","CEACAM16","CEP250","CEP78","CERKL","CFAP418","CHAT","CHCHD10","CHD7","CHN1","CHSY1","CIB2","CISD2","CLCN3","CLCNKA","CLCNKB","CLDN14","CLDN9","CLIC5","CLIP2","CLPP","CLRN1","CLRN2","CLTC","CNGA1","CNGB1","CNNM2","CNOT1","CNOT3","COA8","COCH","COG4","COG5","COG7","COL11A1","COL11A2","COL13A1","COL25A1","COL27A1","COL2A1","COL3A1","COL4A3","COL4A5","COL4A6","COL9A1","COL9A2","COL9A3","COQ2","COQ6","COX10","COX11","COX16","CPLX1","CRB1","CREBBP","CRKL","CRLS1","CRX","CRYAB","CRYM","CSPP1","CSRP3","CTBP1","CTLA4","CTNNB1","CYP7B1","DAB1","DBH","DCAF17","DCC","DCDC2","DCHS1","DDB2","DES","DGUOK","DHCR7","DHDDS","DHX16","DHX38","DIABLO","DIAPH1","DIAPH3","DISP1","DKK1","DLL1","DLST","DLX5","DLX6","DMD","DMP1","DMXL2","DNAJC19","DNAJC3","DNAJC30","DNASE1L3","DNM1L","DNMT1","DNMT3A","DNMT3B","DOLK","DSG2","DSP","DSPP","DTYMK","DUOX2","DUOXA2","DUSP6","DUX4","DUX4L1","DVL1","EBP","ECE1","EDC3","EDN3","EDNRB","EFNB1","EIF3F","EIF4H","ELAC2","ELMO2","ELMOD3","ELN","ELOVL1","ENPP1","EP300","EPAS1","EPG5","EPOR","EPRS1","EPS15L1","ERAL1","ERAP1","ERBB2","ERBB3","ERCC1","ERCC2","ERCC3","ERCC4","ERCC5","ERCC6","ERCC8","ESPN","ESRP1","ESRRB","EYA1","EYA4","EYS","FAM149B1","FAM161A","FAM20C","FAR1","FAS","FAT4","FBN1","FBXW4","FBXW7","FEZF1","FGF10","FGF14","FGF17","FGF3","FGF8","FGFR1","FGFR2","FGFR3","FGFRL1","FH","FHL2","FIBP","FIG4","FIP1L1","FITM2","FKBP14","FKBP6","FKTN","FLI1","FLNA","FLNB","FLRT3","FOXC1","FOXH1","FOXI1","FOXP2","FOXRED1","FRG1","FSCN2","FTO","FUS","FXN","G6PC3","GAB1","GABRD","GALE","GALK1","GAS1","GATA2","GATA3","GATA4","GATA5","GATA6","GATAD1","GBA1","GBA2","GCDH","GCGR","GDF5","GDF6","GDNF","GFER","GGPS1","GIPC1","GIPC3","GJA1","GJA5","GJA8","GJB1","GJB2","GJB3","GJB6","GJC2","GLA","GLI2","GLI3","GLIS3","GLYCTK","GMPPA","GMPPB","GNAS","GNB1","GNPTAB","GNRH1","GNRHR","GP1BA","GP1BB","GPC4","GPSM2","GRAP","GREB1L","GRHL2","GRXCR1","GRXCR2","GSDME","GTF2E2","GTF2H5","GTF2I","GTF2IRD1","GTF2IRD2","GUCA1B","GUCY2D","GUSB","GYG1","HAAO","HACE1","HAND2","HARS1","HARS2","HAX1","HDAC4","HDAC8","HESX1","HGF","HGSNAT","HLA-B","HLA-DPA1","HLA-DPB1","HLA-DRB1","HNRNPK","HOMER2","HOXA1","HOXA11","HOXA2","HOXB1","HS2ST1","HS6ST1","HSD17B10","HSD17B4","HSPG2","HTRA2","IARS1","IARS2","IDH3A","IDH3B","IDS","IDUA","IFNGR1","IFT140","IFT172","IFT88","IGBP1","IGF1","IL10","IL12A","IL12A-AS1","IL17RD","IL23R","ILDR1","IMPDH1","IMPG1","IMPG2","INF2","IRF2BP2","IRX5","ITGA2","ITGA2B","ITGB3","IYD","JAG1","JAK2","JPH2","JUP","KARS1","KCNA1","KCNA5","KCNAB2","KCNE1","KCNE2","KCNH1","KCNJ10","KCNJ16","KCNJ2","KCNJ3","KCNJ5","KCNMA1","KCNN3","KCNQ1","KCNQ2","KDM6A","KIAA0586","KIAA1549","KIF1B","KIF21A","KIF7","KISS1","KISS1R","KITLG","KIZ","KLHL7","KLRC4","KMT2D","KRAS","KYNU","LAMA4","LARS1","LARS2","LDB3","LETM1","LHFPL5","LHX3","LHX4","LIG3","LIMK1","LMNA","LMNB1","LMOD2","LMX1B","LONP1","LORICRIN","LOXHD1","LRAT","LRP12","LRP2","LRP4","LRP5","LRTOMT","LUZP1","LZTR1","MAF","MAFB","MAK","MAN2B1","MAP1B","MAP2K1","MAP3K20","MAP3K7","MAPK1","MARS1","MARS2","MARVELD2","MAX","MBTPS2","MCM2","MDH2","MECOM","MED12","MEFV","MEGF8","MEN1","MEOX1","MERTK","MET","METTL27","MFN2","MGAT2","MIA3","MICOS13","MINAR2","MIR96","MITF","MLXIPL","MMP23B","MOGS","MPDZ","MPEG1","MPL","MPLKIP","MPZ","MPZL2","MRAS","MRPS2","MRPS28","MRPS7","MT-ATP6","MT-ATP8","MT-CO1","MT-CO2","MT-CO3","MT-CYB","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND5","MT-ND6","MT-RNR1","MT-TC","MT-TE","MT-TF","MT-TH","MT-TI","MT-TK","MT-TL1","MT-TN","MT-TP","MT-TQ","MT-TS1","MT-TS2","MT-TV","MT-TW","MTSS2","MVK","MYBPC3","MYCN","MYD88","MYH11","MYH14","MYH6","MYH7","MYH9","MYL2","MYL4","MYMK","MYO15A","MYO3A","MYO6","MYO7A","MYO9A","MYPN","NABP1","NAGA","NARS2","NAXD","NCAPG2","NCF1","NDE1","NDNF","NDP","NDRG1","NDUFA1","NDUFA11","NDUFA6","NDUFAF1","NDUFAF2","NDUFAF3","NDUFAF4","NDUFAF5","NDUFAF8","NDUFB10","NDUFB11","NDUFB3","NDUFB9","NDUFS1","NDUFS2","NDUFS3","NDUFS4","NDUFS6","NDUFS7","NDUFS8","NDUFV1","NDUFV2","NEDD4L","NEFL","NEK2","NEU1","NEXN","NF1","NF2","NHLH2","NIPBL","NKX2-1","NKX2-5","NKX2-6","NLRP12","NLRP3","NMNAT1","NODAL","NOG","NOP56","NOTCH2NLC","NOTCH3","NPM1","NPPA","NR2E3","NRAS","NRL","NRTN","NSD2","NSMF","NUBPL","NUMA1","NUP155","ODC1","OFD1","OPA1","OSBPL2","OTOA","OTOF","OTOG","OTOGL","OTX2","P2RX2","P4HA2","PAX1","PAX2","PAX3","PCARE","PCDH15","PCNA","PCNT","PDE1C","PDE6A","PDE6B","PDE6G","PDGFB","PDGFRB","PDK3","PDPN","PDZD7","PERP","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PEX7","PGAP2","PGM3","PHEX","PHOX2A","PHOX2B","PHYH","PIGV","PIK3C2A","PIK3R1","PISD","PITX2","PJVK","PLAA","PLCH1","PLN","PLOD3","PLS1","PML","PMP22","PNP","PNPLA2","PNPLA6","PNPT1","POGZ","POLD1","POLG","POMGNT1","POMK","PORCN","POU1F1","POU3F4","PPCS","PPIP5K2","PPP1R15B","PPP2R3C","PRCD","PRDM12","PRDM16","PRDM5","PRF1","PRG4","PRKAR1A","PRKCZ","PRKDC","PRMT7","PROK2","PROKR2","PROM1","PROP1","PRORP","PRPF3","PRPF31","PRPF4","PRPF6","PRPF8","PRPH2","PRPS1","PRRT2","PRTN3","PSAP","PSEN1","PSEN2","PTCH1","PTDSS1","PTPN11","PTPN22","PTPRQ","PTRH2","PUS3","PUS7","RAB23","RAC1","RAD21","RAF1","RARA","RASA2","RBM20","RBM8A","RBMX","RBP3","RDH12","RDH5","RDX","RECQL4","REEP6","RERE","REST","RET","RFC1","RFC2","RFT1","RGR","RHO","RILPL1","RIPOR2","RIT1","RLBP1","RNASET2","RNF113A","RNF13","RNF220","RNU12","ROBO1","ROBO3","ROM1","ROR1","RP1","RP1L1","RP2","RP9","RPE65","RPGR","RPL10","RPL3L","RPS28","RPS6KA3","RRAS","RRAS2","RRM2B","RTTN","RYR1","RYR2","S1PR2","SAG","SALL1","SALL4","SARDH","SBF2","SCAPER","SCD5","SCN1A","SCN1B","SCN2A","SCN2B","SCN3B","SCN4B","SCN5A","SDHA","SDHAF2","SDHB","SDHC","SDHD","SELENOI","SEM1","SEMA3A","SEMA3C","SEMA3D","SEMA4A","SERAC1","SETBP1","SETD2","SF3B2","SGCD","SGMS2","SGPL1","SH2B1","SH2B3","SH3TC2","SHH","SIN3A","SIX1","SIX3","SIX6","SKI","SLC12A2","SLC12A3","SLC17A8","SLC18A3","SLC19A2","SLC1A3","SLC25A1","SLC25A11","SLC25A4","SLC26A4","SLC26A5","SLC29A3","SLC30A9","SLC35A2","SLC39A14","SLC39A7","SLC44A4","SLC4A11","SLC52A2","SLC52A3","SLC5A5","SLC5A7","SLC7A14","SLC9A1","SLITRK6","SMC1A","SMC3","SMCHD1","SMO","SMPX","SNAI2","SNAP25","SNAP29","SNRNP200","SNX14","SOS1","SOS2","SOST","SOX10","SOX2","SOX3","SOX6","SPATA5","SPATA5L1","SPATA7","SPEN","SPNS2","SPRED2","SPRY4","SPTBN1","SPTBN4","SPTLC1","SQSTM1","SREBF1","SRP72","STAG2","STAT3","STAT4","STAT5B","STIL","STRC","STX11","STX1A","STXBP2","SUCLA2","SUCLG1","SUFU","SUMF1","SURF1","SYNE4","SYT2","TAC3","TACR3","TAF1A","TAFAZZIN","TANGO2","TAOK1","TARDBP","TARS1","TBC1D24","TBCK","TBK1","TBL1XR1","TBL1Y","TBL2","TBX22","TCAP","TDGF1","TDO2","TECRL","TECTA","TET2","TFAP2A","TG","TGIF1","THOC1","THOC2","THPO","TIMM8A","TIMMDC1","TK2","TLR4","TMC1","TMEM126A","TMEM126B","TMEM127","TMEM132E","TMEM147","TMEM270","TMEM38B","TMEM67","TMPO","TMPRSS3","TNC","TNFRSF11B","TNFRSF1A","TNNC1","TNNI3","TNNT2","TOP3A","TOPORS","TP63","TPK1","TPM1","TPM2","TPO","TPRN","TRAPPC11","TRAPPC4","TRDN","TRIOBP","TRMT10A","TRMT10C","TRNT1","TRPM4","TRPV3","TRPV4","TRRAP","TSPEAR","TTC8","TTN","TTR","TUB","TUBA1A","TUBB2B","TUBB3","TUBB4B","TULP1","TWIST1","TWNK","TXNRD2","TYMP","TYR","UBA1","UBAC2","UBE4B","UBR1","UNC13D","UQCC2","USH1C","USH1G","USH2A","USP48","VAMP1","VCL","VCP","VEZF1","VHL","VPS11","VPS13B","VPS33B","VPS37D","VPS4A","VSX1","WAC","WDR11","WDR37","WDR81","WFS1","WHRN","WNT10B","XPA","XPC","XPNPEP3","XRCC4","XYLT2","YAP1","YARS1","ZBTB16","ZEB2","ZIC1","ZIC2","ZMPSTE24","ZNF408","ZNF469","ZNF513","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_DORSAL_COLUMN_OF_THE_SPINAL_CORD":{"collection":"C5:HPO","systematicName":"M43399","pmid":"","exactSource":"HP:0011397","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011397","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_DORSAL_COLUMN_OF_THE_SPINAL_CORD","geneSymbols":["ABCD1","ALDH18A1","ATXN1","DARS2","FAR1","SETX"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CNS_MYELINATION":{"collection":"C5:HPO","systematicName":"M37845","pmid":"","exactSource":"HP:0011400","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011400","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CNS_MYELINATION","geneSymbols":["AARS1","ABAT","ABCD1","ACBD5","ACER3","ACOX1","ACTL6B","ACY1","ADAR","ADARB1","ADAT3","ADGRG1","ADSL","AHCY","AHDC1","AIFM1","AIMP1","AIMP2","ALDH3A2","ALDH5A1","ALDH6A1","ALDH7A1","ALG13","ALG14","ALG2","ALG8","ALG9","ALS2","AP3D1","ARF1","ARID1B","ARNT2","ARSA","ARX","ASH1L","ASPA","ATP11A","ATP1A3","ATP6AP2","ATP6V1A","ATP9A","ATXN2","BCAP31","BCAS3","BCS1L","BMP4","BOLA3","BRAT1","C18orf32","C2CD3","C2orf69","CACNA1I","CARS1","CDC40","CDK19","CHAMP1","CHKA","CLCN3","CLCN7","CLDN11","CLPB","CLTC","CLTCL1","CNOT3","CNTNAP1","COA8","COPB2","COX14","COX6B1","CSF1R","CTC1","CTNNB1","CTSK","CUL3","CYB5A","CYB5R3","CYP27A1","D2HGDH","DAG1","DALRD3","DARS1","DARS2","DDOST","DDX6","DHX30","DHX37","DNM1L","DOHH","DPAGT1","DYRK1A","EARS2","EDNRB","EIF2AK2","EIF2B1","ELOVL1","ELOVL4","EPRS1","ERCC1","ERCC2","ERCC3","ERCC6","ERCC8","EXOC2","EXOC8","EXOSC1","EXOSC2","EXOSC5","EZH2","FA2H","FANCB","FANCL","FAR1","FBP2","FBXL4","FBXO28","FCSK","FOCAD","FOXP1","FOXRED1","FRMD5","FRMPD4","FUCA1","FUS","FZR1","GAA","GABRA2","GABRA5","GABRG2","GALC","GAN","GDAP1","GEMIN4","GET4","GFAP","GJC2","GLRX5","GLS","GLUL","GLYCTK","GNAO1","GNB2","GOLGA2","GPT2","GRIK2","GRM7","GTF2E2","GTF2H5","GTPBP3","H4C5","HCFC1","HEXB","HIKESHI","HLA-DQB1","HLA-DRB1","HS2ST1","HSD17B4","HSPD1","HTRA1","HYCC1","IBA57","IDUA","IER3IP1","IFIH1","INSR","INTU","ISCA1","ISCA2","ITPA","KARS1","KCNC2","KCNN2","KCNT1","KDM1A","KIDINS220","KIF5A","L2HGDH","LEMD2","LIAS","LIPT1","LIPT2","LMNB1","LMX1B","LRPPRC","LSM11","MADD","MAT1A","MCOLN1","MDH2","MED17","MED27","MLYCD","MMACHC","MMUT","MORC2","MPLKIP","MT-ND1","MT-ND2","MT-ND3","MTHFS","MTTP","NACC1","NADK2","NAE1","NARS1","NARS2","NCDN","NDUFA1","NDUFA11","NDUFA6","NDUFAF1","NDUFAF2","NDUFAF3","NDUFAF4","NDUFAF5","NDUFAF8","NDUFB10","NDUFB11","NDUFB3","NDUFB9","NDUFS1","NDUFS2","NDUFS3","NDUFS4","NDUFS6","NDUFS7","NDUFS8","NDUFV1","NDUFV2","NEDD4L","NEUROD2","NGLY1","NKX6-2","NMNAT1","NOTCH2NLC","NRCAM","NRROS","NUBPL","NUP133","NUP188","PARS2","PC","PDCD1","PDYN","PEX1","PEX10","PEX13","PEX16","PEX19","PEX7","PGAP1","PGAP2","PGAP3","PGM3","PHACTR1","PHGDH","PI4KA","PIBF1","PIGG","PIGL","PIGO","PIGS","PIGU","PIGV","PIGW","PIGY","PKDCC","PLEKHG2","PLP1","PLPBP","PNPT1","POGZ","POLR1C","POLR2A","POLR3A","POLR3B","POU3F3","PPFIBP1","PPIL1","PPP1R15B","PPP2CA","PPP2R1A","PPP3CA","PRF1","PRKDC","PRMT7","PRPS1","PRUNE1","PSAP","PTEN","PURA","PYCR2","QARS1","RAB11B","RAB3GAP1","RARS1","RBM8A","REPS1","RERE","RFX7","RHOBTB2","RMND1","RNASEH2A","RNASEH2B","RNASEH2C","RNASET2","RNF113A","RNF13","RNF220","RNU7-1","SAMHD1","SDHB","SETD1A","SHANK3","SHPK","SIGMAR1","SIN3A","SLC12A5","SLC16A2","SLC1A2","SLC1A4","SLC25A12","SLC2A1","SLC33A1","SLC35A2","SLC35B2","SLC6A1","SMG9","SMPD1","SMPD4","SNIP1","SNORD118","SOX10","SP110","SPATA5","SPG11","SPTAN1","SPTBN1","SPTLC1","STAMBP","STXBP1","SUMF1","TAF13","TAF2","TAOK1","TARS1","TBC1D24","TBCD","TGFB1","TIAM1","TIMM22","TIMMDC1","TKFC","TMEM106B","TMEM126B","TMEM147","TMEM163","TMEM240","TMEM63A","TMTC3","TNPO2","TNR","TPR","TRAPPC11","TRAPPC2L","TREM2","TREX1","TRIM8","TRMT10A","TRMT5","TRNT1","TRRAP","TTC26","TUBB4A","TUFM","TXN2","UBA5","UFC1","UGDH","UPB1","VPS11","VPS33A","WARS1","WARS2","WDR26","YIF1B","YME1L1","YRDC","YY1","ZC4H2","ZMIZ1","ZNF148","ZNF335","ZNF526"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PROPORTIONATE_TALL_STATURE":{"collection":"C5:HPO","systematicName":"M41414","pmid":"","exactSource":"HP:0011407","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011407","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROPORTIONATE_TALL_STATURE","geneSymbols":["AGPAT2","AIP","BSCL2","CAV1","CAVIN1","CDKN1A","CDKN1B","CDKN2B","CDKN2C","DNMT3A","FIBP","FOS","MEN1","NF1","PPARG"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_PLACENTAL_MEMBRANE_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M37846","pmid":"","exactSource":"HP:0011409","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011409","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PLACENTAL_MEMBRANE_MORPHOLOGY","geneSymbols":["ATP6V1B2","FERMT1","GJA1","GJB2","GLE1","KANK2","KRT1","LORICRIN","POMP","SMARCAD1","TBC1D24","TP63","TRPV3","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CAESARIAN_SECTION":{"collection":"C5:HPO","systematicName":"M37847","pmid":"","exactSource":"HP:0011410","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011410","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CAESARIAN_SECTION","geneSymbols":["AGTPBP1","ARSB","ASXL3","CACNA1D","CYP11B1","CYP11B2","MCM4","MTM1","OPA1","POLR3A","POR","PTCD3","SATB1","TAF1","TAOK1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PLACENTAL_ABRUPTION":{"collection":"C5:HPO","systematicName":"M43400","pmid":"","exactSource":"HP:0011419","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011419","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PLACENTAL_ABRUPTION","geneSymbols":["CD46","CFH","CFI","FANCF","HELLPAR"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_AGE_OF_DEATH":{"collection":"C5:HPO","systematicName":"M47182","pmid":"","exactSource":"HP:0011420","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011420","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AGE_OF_DEATH","geneSymbols":["AARS2","ABAT","ABCA12","ABCA3","ABCB11","ACAD9","ACADVL","ACOX1","ACTA1","ACTB","ACTG2","ACTL6B","ACTN2","ADCY5","ADCY6","AFF3","AIMP1","AIMP2","ALB","ALG1","ALG11","ALG14","ALG8","ALPL","AMT","ANTXR2","AP1S1","APP","ARHGEF9","ARX","ASCL1","ASXL3","ATAD3A","ATG7","ATP1A2","ATP5F1A","ATP5MK","ATP6AP1","ATP7A","ATPAF2","ATRX","BAZ1B","BCL7B","BCS1L","BIN1","BMPR1B","BOLA3","BRAT1","BUD23","C18orf32","C2orf69","CAD","CALCRL","CAMSAP1","CCDC22","CD3G","CD96","CDC40","CDK5","CDON","CENPF","CEP120","CEP55","CLCF1","CLCN3","CLIP2","CLN8","CNOT1","CNTN1","CNTNAP1","COASY","COG6","COG7","COL11A1","COL2A1","COX10","COX11","COX16","COX5A","COX8A","CPT2","CRIPT","CRLF1","CRLS1","CRPPA","CRTAP","CRYAB","CST3","CTSD","DCX","DHCR7","DLD","DLK1","DLL3","DNAJC30","DNM1L","DNM2","DOLK","DONSON","DPH1","DPH5","DPM2","DPYSL5","DSP","DTYMK","DYNLT2B","ECHS1","EDNRB","EFL1","EIF4H","ELAC2","ELN","ELOVL4","EMG1","ENG","EPCAM","EPG5","ERCC1","ERCC2","ERCC4","ERCC5","ERCC6","ESCO2","ETFA","ETFB","ETFDH","ETHE1","EXOC8","EXOSC8","EXTL3","FADD","FAM111A","FAM20C","FAN1","FANCB","FARS2","FCGR3B","FCHO1","FGA","FGB","FGFR3","FGG","FHL1","FKBP6","FKRP","FLI1","FLNA","FLNB","FOXF1","FRAS1","FREM2","FTO","FXR1","GAD1","GATC","GBA1","GDF5","GET3","GFAP","GFM2","GLB1","GLDC","GLE1","GLI3","GLUL","GNPTAB","GPC3","GPC4","GPHN","GPR161","GRIP1","GRM7","GTF2I","GTF2IRD1","GTF2IRD2","HADHB","HBB","HDAC6","HESX1","HEXB","HMGCL","HOXA13","HSPG2","HTRA2","HYLS1","IDUA","IKBKB","IL6ST","INTU","ITGA6","ITGB4","ITPA","JAK2","JAM3","JPH2","KARS1","KIF20A","KLHL40","KRAS","KRT5","LAMA3","LAMB2","LAMB3","LAMC2","LAT","LBR","LGI4","LHX4","LIFR","LIMK1","LIPA","LIPT1","LIPT2","LMNA","LMOD1","LMOD2","LMOD3","LRPPRC","LTBP4","LTC4S","LYRM7","MADD","MALT1","MBTPS2","MDFIC","MEG3","MESP2","METTL27","MFF","MFSD2A","MGP","MLH1","MLH3","MLXIPL","MOCS2","MPDU1","MPI","MPL","MRM2","MRPL3","MRPL44","MRPS16","MRPS22","MRPS34","MSH2","MSH6","MT-TN","MT-TS1","MTMR14","MTX2","MUSK","MYF6","MYH11","MYH6","MYH7","MYL1","MYL2","MYLK","MYO5B","NADK2","NADSYN1","NAXD","NAXE","NCF1","NDUFA2","NDUFAF3","NDUFAF4","NDUFB10","NDUFB11","NDUFB8","NDUFS4","NDUFS6","NDUFS7","NDUFV1","NDUFV2","NEB","NEK8","NFIX","NFS1","NFU1","NHLRC2","NLRP7","NPC2","NPHP3","NR1H4","NRAS","NSD2","NSDHL","NSF","NUP214","NUP88","NXN","OAS1","OCRL","OGDH","ORAI1","ORC1","OSTM1","PAICS","PAM16","PET100","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PHGDH","PHOX2B","PIGA","PIGB","PIGY","PIK3CA","PIP5K1C","PITX1","PKHD1","PLCB3","PLEC","PLIN1","PLVAP","PLXND1","PMM2","PMS1","PMS2","POLG","POLR3A","POLR3B","POMT2","POR","POT1","PPCS","PPFIBP1","PPIL1","PQBP1","PROKR2","PRPS1","PSAP","PSAT1","PSMB8","PTF1A","PTH1R","PTPRC","QRSL1","RAB27A","RAD51C","RARB","RARS2","RBM10","RBM8A","REC114","RET","REV3L","RFC2","RHAG","RHCE","RHD","RINT1","RMND1","RNASEH2A","RNASEH2C","RNU4ATAC","ROBO1","ROR2","RPL3L","RPS6KA3","RTL1","RYR1","SATB1","SCN1B","SCN4A","SCO2","SCYL2","SDHD","SEC31A","SERPINC1","SERPINE1","SERPINH1","SFTPB","SIK1","SLC17A5","SLC25A19","SLC25A22","SLC25A24","SLC25A4","SLC25A46","SLC26A2","SLC33A1","SLC35D1","SLC52A3","SLC9A6","SMARCD2","SMN1","SMO","SMOC1","SMPD4","SNAP29","SNRPB","SOST","STAT2","STRA6","STT3B","STX1A","STX3","SUCLG1","SUOX","SURF1","TARS2","TBL2","TBXT","TFAM","TGFBR2","THPO","THSD1","TIMMDC1","TK2","TMEM260","TMEM270","TMEM70","TNFRSF11A","TNNI3","TOR1A","TPI1","TPP2","TRIP11","TRMT10C","TRMU","TSEN2","TSEN54","TSFM","TSPYL1","TTC26","TTC7A","TUFM","TYMP","UBR1","VIPAS39","VPS33A","VPS33B","VPS35L","VPS37D","VPS4A","VPS50","WASHC5","WDR11","WRN","WT1","ZIC3","ZMPSTE24","ZNFX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DEATH_IN_ADOLESCENCE":{"collection":"C5:HPO","systematicName":"M41415","pmid":"","exactSource":"HP:0011421","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011421","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEATH_IN_ADOLESCENCE","geneSymbols":["ACTN2","COX8A","DSP","ERCC4","EXOC8","FGA","FGB","FGG","FHL1","GFAP","IL6ST","MADD","MALT1","MDFIC","MFSD2A","OAS1","PET100","PEX2","PSMB8","SATB1","SLC25A22","SOST","TPI1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_BLOOD_CHLORIDE_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M37848","pmid":"","exactSource":"HP:0011422","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011422","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BLOOD_CHLORIDE_CONCENTRATION","geneSymbols":["BSND","CLCNKA","CLCNKB","CUL3","KCNJ1","KLHL3","MAGED2","SLC12A1","SLC26A3","WNK1","WNK4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FETAL_ULTRASOUND_SOFT_MARKER":{"collection":"C5:HPO","systematicName":"M37849","pmid":"","exactSource":"HP:0011425","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011425","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FETAL_ULTRASOUND_SOFT_MARKER","geneSymbols":["ABCC6","ADGRG6","ALG9","ASXL2","ATP6V1B2","BNC2","CACNA1C","CBL","CCDC22","CDC42BPB","CHMP2B","CLCN3","DDX6","DPF2","DPYSL5","EBP","EFNB1","ENPP1","FANCB","FANCF","FAT4","FGF13","FH","FOXF1","GATA1","GATA6","GNB2","GRN","HNRNPK","HOXD13","HRAS","HSPG2","KANSL1","KIF26A","KMT2D","KRAS","LAMA5","LBR","LRPPRC","LZTR1","MAPT","MCTP2","MKS1","MRAS","MRPS16","MYH7","MYL9","NRAS","NUP88","PACS1","PAK2","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PGAP2","PGAP3","PI4KA","PIGA","PIGL","PIGN","PIGO","PIGV","PIGW","PIGY","POR","PSAT1","PSEN1","PTPN11","QRICH1","RAC1","RAF1","RASA2","RIT1","RNU4ATAC","RRAS","RRAS2","RYR3","SCARF2","SLC26A2","SLC30A9","SLC31A1","SLC35A2","SOS1","SOS2","SPECC1L","SPRED2","SQSTM1","STAG1","TAPT1","TBC1D24","TBCK","THSD1","TLK2","TMEM106B","TRAF7","TREM2","TRIP11","TWIST2","VCP","VPS35L","WASHC5","WNT3","WT1","ZBTB18","ZBTB42","ZIC3","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_COORDINATION":{"collection":"C5:HPO","systematicName":"M37850","pmid":"","exactSource":"HP:0011443","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011443","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_COORDINATION","geneSymbols":["AAAS","AARS1","AARS2","AASS","ABCA2","ABCA5","ABCA7","ABCB7","ABCC8","ABCD1","ABHD12","ABHD16A","ABHD5","ACADM","ACADS","ACAT1","ACBD5","ACD","ACO2","ACOX1","ACOX2","ACTA1","ACTL6B","ADA2","ADAR","ADCY5","ADGRG1","ADGRV1","ADPRS","ADSL","ADSS1","AFF2","AFG3L2","AGRN","AGTPBP1","AHDC1","AHI1","AIFM1","AKT1","ALDH18A1","ALDH5A1","ALG11","ALG13","ALG14","ALG2","ALG6","ALG8","ALMS1","ALS2","AMACR","AMFR","ANK1","ANO10","ANOS1","AP1S2","AP2M1","AP3B2","AP4M1","AP5Z1","APC","APC2","APOB","APP","APTX","ARCN1","ARG1","ARHGEF2","ARID1B","ARL13B","ARL3","ARL6","ARMC9","ARSA","ARSG","ARV1","ARX","ASAH1","ASL","ASS1","ATAD1","ATAD3A","ATCAY","ATG5","ATG7","ATL1","ATM","ATN1","ATP10A","ATP13A2","ATP1A2","ATP1A3","ATP2B3","ATP5F1A","ATP5F1D","ATP5F1E","ATP5MK","ATP6AP2","ATP6V0A1","ATP6V0A2","ATP6V1A","ATP7B","ATP8A2","ATP9A","ATPAF1","ATPAF2","ATXN1","ATXN10","ATXN2","ATXN3","ATXN7","ATXN8OS","AUH","B4GALNT1","B9D1","B9D2","BAP1","BAZ1B","BBS1","BCKDHA","BCKDHB","BCL11A","BCL7B","BCS1L","BEAN1","BMP15","BMPR1B","BNC1","BOLA3","BRAT1","BRCA1","BSCL2","BSND","BTD","BUD23","C12orf4","C19orf12","C4A","CA8","CACNA1A","CACNA1B","CACNA1G","CACNA2D1","CACNA2D2","CACNB4","CAMK2B","CAMTA1","CAPN1","CAPN3","CARS1","CASK","CAV1","CAV3","CBY1","CC2D2A","CCDC141","CCDC28B","CCDC78","CCDC88C","CCR1","CDC42","CDC42BPB","CDH23","CDK19","CDKL5","CELF2","CEP104","CEP120","CEP164","CEP290","CEP41","CEP78","CERS1","CFL2","CHAMP1","CHAT","CHCHD10","CHD2","CHD7","CHD8","CHMP1A","CHP1","CIB2","CIITA","CISD2","CLCN2","CLCN4","CLCNKA","CLCNKB","CLIP2","CLN3","CLN5","CLN6","CLN8","CLPB","CLRN1","CLTC","CLTRN","CNKSR2","CNTNAP2","COA7","COA8","COG4","COG5","COG8","COL12A1","COL13A1","COL18A1","COL6A1","COL6A2","COL6A3","COLQ","COQ2","COQ5","COQ8A","COX10","COX20","COX6B1","CP","CPLANE1","CPLX1","CPS1","CRAT","CREBBP","CRPPA","CSF1R","CSNK2A1","CSPP1","CSTB","CTBP1","CTC1","CTDP1","CTNNA2","CTSD","CTSF","CTSH","CUL4B","CUX1","CWF19L1","CXCR4","CYFIP2","CYP27A1","CYP7B1","DAB1","DALRD3","DARS1","DARS2","DBT","DCC","DCHS1","DCPS","DCX","DDB2","DEAF1","DEGS1","DGUOK","DHDDS","DHFR","DHX30","DKC1","DKK1","DLAT","DLD","DLK1","DLL1","DMPK","DMXL2","DNAJC13","DNAJC19","DNAJC3","DNAJC30","DNAJC5","DNAJC6","DNAL4","DNASE1L3","DNM1","DNM1L","DNMT1","DOCK3","DOHH","DPAGT1","DPM1","DPP9","DPYSL5","DUSP6","DYM","DYNC1H1","DYRK1A","EBF3","EDNRB","EED","EEF1A2","EEF2","EIF2AK2","EIF2S3","EIF4G1","EIF4H","ELN","ELOVL1","ELOVL4","ELOVL5","ELP1","EP300","EPB42","EPM2A","EPRS1","ERAP1","ERBB3","ERCC1","ERCC2","ERCC3","ERCC4","ERCC5","ERCC6","ERCC8","ERMARD","ESPN","ETHE1","EXOSC3","EXOSC5","EXOSC8","EXOSC9","EZH2","FA2H","FAM149B1","FAS","FASTKD2","FAT2","FAT4","FBXL4","FBXO28","FBXW7","FDXR","FEZF1","FGF12","FGF13","FGF14","FGF17","FGF8","FGFR1","FHL1","FIG4","FKBP6","FKRP","FKTN","FLRT3","FLVCR1","FMR1","FOCAD","FOXG1","FOXI1","FOXP2","FOXRED1","FRMD4A","FRMD5","FRMPD4","FRRS1L","FSHR","FTL","FUS","FXN","FZR1","GABBR2","GABRA1","GABRA2","GABRA5","GABRB1","GABRB2","GABRB3","GABRD","GABRG2","GALC","GALT","GAMT","GBA1","GBA2","GBE1","GCDH","GCH1","GCK","GCLC","GDAP1","GDAP2","GEMIN5","GFAP","GFPT1","GGT1","GIGYF2","GJA1","GJB1","GJC2","GLB1","GLRA1","GLRB","GLRX5","GLS","GMPPA","GMPPB","GNAO1","GNB5","GNE","GOSR2","GPAA1","GPHN","GPI","GRIA2","GRID2","GRIK2","GRIN1","GRIN2A","GRIN2D","GRM1","GRM7","GRN","GSN","GSS","GTF2E2","GTF2H5","GTF2I","GTF2IRD1","GTF2IRD2","GTPBP2","H4C5","HACE1","HADHA","HADHB","HARS1","HAX1","HCN1","HCRT","HEPACAM","HERC1","HERC2","HESX1","HEXB","HIBCH","HIC1","HIKESHI","HINT1","HIVEP2","HK1","HLA-B","HLA-DQA1","HLA-DQB1","HLA-DRB1","HLCS","HMGCL","HNRNPA1","HNRNPH1","HNRNPH2","HPDL","HS6ST1","HSD17B10","HSD17B4","HTRA1","HTT","HUWE1","HYLS1","IFNGR1","IFRD1","IFT140","IFT74","IL10","IL12A","IL12A-AS1","IL17RD","IL23R","IMPDH2","INPP5E","INPP5K","INS","INVS","IQCB1","IQSEC1","IRF2BPL","IRF4","ISCU","ITM2B","ITPR1","JAM2","KARS1","KATNIP","KBTBD13","KCNA1","KCNA2","KCNB1","KCNC1","KCNC2","KCNC3","KCND3","KCNJ10","KCNJ11","KCNJ16","KCNMA1","KCNN2","KCNQ2","KCTD7","KDM4B","KDM5B","KIAA0586","KIAA0753","KIF1A","KIF1B","KIF1C","KIF5A","KIF7","KIT","KLHL41","KLLN","KLRC4","KNSTRN","L1CAM","L2HGDH","LAGE3","LAMA1","LAMB2","LARGE1","LARS2","LETM1","LGI3","LIG3","LIMK1","LINGO1","LITAF","LMBRD1","LMNB1","LMNB2","LNPK","LONP1","LRP12","LRP4","LRPPRC","LRRK2","LYRM7","LYST","LZTFL1","MAB21L1","MAG","MAGEL2","MAN1B1","MAN2B1","MAPK8IP3","MAPT","MARS1","MARS2","MAST1","MBD5","MCM3AP","MCOLN1","MECP2","MECR","MED13L","MEFV","MEG3","METTL27","MFN2","MFSD2A","MFSD8","MICOS13","MICU1","MKRN3","MKS1","MLC1","MLXIPL","MMACHC","MMADHC","MME","MOG","MORC2","MPDU1","MPLKIP","MPV17","MPZ","MRE11","MRPL12","MRPS22","MSH4","MSTO1","MT-ATP6","MT-ATP8","MT-CO1","MT-CO2","MT-CO3","MT-CYB","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND4L","MT-ND5","MT-ND6","MT-RNR1","MT-TE","MT-TF","MT-TH","MT-TI","MT-TK","MT-TL1","MT-TN","MT-TP","MT-TQ","MT-TS1","MT-TS2","MT-TV","MT-TW","MTFMT","MTHFR","MTPAP","MTR","MTRFR","MTTP","MVK","MYD88","MYO5A","MYO7A","MYO9A","MYORG","MYPN","NAA20","NADK2","NAGS","NALCN","NANS","NARS1","NAT8L","NAXD","NAXE","NCF1","NDNF","NDRG1","NDST1","NDUFA1","NDUFA11","NDUFA13","NDUFA4","NDUFA6","NDUFAF1","NDUFAF2","NDUFAF3","NDUFAF4","NDUFAF5","NDUFAF6","NDUFAF8","NDUFB10","NDUFB11","NDUFB3","NDUFB9","NDUFS1","NDUFS2","NDUFS3","NDUFS4","NDUFS6","NDUFS7","NDUFS8","NDUFV1","NDUFV2","NEB","NECAP1","NEDD4L","NEFH","NEFL","NELFA","NEMF","NEU1","NEUROD2","NEXMIF","NF1","NF2","NFASC","NFIX","NGLY1","NHLRC1","NIPA1","NIPA2","NKX2-1","NKX6-2","NMNAT1","NOL3","NONO","NOP56","NOTCH2NLC","NPAP1","NPC1","NPC2","NPHP1","NPHP3","NPHP4","NPTX1","NR4A2","NR5A1","NRCAM","NSD1","NSD2","NTN1","NTNG1","NTRK2","NUBPL","NUDT2","NUP107","NUP214","NUP54","NUP62","NUS1","NUTM2B-AS1","OCA2","OFD1","OGDH","OGDHL","OPA1","OPA3","OPHN1","OTC","OTUD6B","OXR1","P2RY11","P4HA2","PACS2","PAFAH1B1","PAK1","PAK3","PANK2","PARN","PARS2","PAX6","PCDH15","PCDH19","PCNA","PDCD1","PDCD6IP","PDE10A","PDE2A","PDE6D","PDE8B","PDGFB","PDGFRB","PDHA1","PDHB","PDHX","PDP1","PDX1","PDYN","PDZD7","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PEX7","PGAP2","PGAP3","PGK1","PGM2L1","PGM3","PHYH","PI4KA","PIBF1","PIDD1","PIEZO2","PIGA","PIGG","PIGK","PIGL","PIGO","PIGP","PIGQ","PIGS","PIGT","PIGV","PIGW","PIGY","PIK3CA","PIK3CD","PIK3R5","PITRM1","PLA2G6","PLD3","PLEC","PLEKHG4","PLP1","PMM2","PMP2","PMP22","PMPCA","PMPCB","PNKP","PNP","PNPLA6","PNPLA8","PNPT1","PODXL","POGZ","POLG","POLG2","POLR1C","POLR3A","POLR3B","POLR3H","POLR3K","POMT1","POMT2","POU3F4","POU4F1","PPP1R15B","PPP1R21","PPP2R1A","PPP2R2B","PPP2R5D","PPP3CA","PPT1","PRDM13","PRDM8","PRDX3","PRF1","PRICKLE1","PRKCG","PRNP","PRODH","PROK2","PROKR2","PRPS1","PRRT2","PRX","PSAP","PSEN1","PSEN2","PSMC3IP","PTEN","PTPN22","PTRH2","PTS","PUM1","PURA","PWAR1","PWRN1","PYCR2","PYROXD1","RAB11B","RAD50","RAD51","RAI1","RARS1","RDH11","REEP1","REEP2","REPS1","RFC1","RFC2","RFT1","RFX5","RFXANK","RFXAP","RIMS2","RIPK4","RNASEH1","RNASET2","RNF113A","RNF125","RNF168","RNF216","RNF220","RNU12","ROGDI","RORA","RPGRIP1L","RPIA","RPL10","RRM2B","RTEL1","RTL1","RTN2","RTN4IP1","RUBCN","RUSC2","RYR1","RYR3","SACS","SAMD9L","SARDH","SARS1","SATB1","SBF2","SCARB2","SCN1A","SCN1B","SCN2A","SCN3A","SCN4A","SCN8A","SCN9A","SCO2","SCYL1","SDCCAG8","SDHA","SDHAF1","SDHB","SDHC","SDHD","SEC23B","SEMA3A","SEMA6B","SET","SETD2","SETX","SFXN4","SGCA","SGCG","SGPL1","SH3TC2","SHMT2","SIGMAR1","SIK1","SIL1","SIM1","SIN3A","SLC12A3","SLC12A6","SLC13A3","SLC13A5","SLC16A2","SLC17A5","SLC18A2","SLC18A3","SLC19A2","SLC19A3","SLC1A2","SLC1A3","SLC20A2","SLC22A5","SLC25A1","SLC25A15","SLC25A22","SLC25A4","SLC25A42","SLC25A46","SLC26A4","SLC2A1","SLC2A3","SLC30A10","SLC30A9","SLC32A1","SLC35A1","SLC35C1","SLC38A3","SLC39A14","SLC39A4","SLC44A1","SLC46A1","SLC4A1","SLC52A2","SLC52A3","SLC5A6","SLC5A7","SLC6A1","SLC6A19","SLC6A5","SLC6A8","SLC7A6OS","SLC9A1","SLC9A6","SMAD4","SMARCA2","SMARCB1","SMARCE1","SMC1A","SMC5","SMG9","SMO","SMPD1","SNAI2","SNAP25","SNAP29","SNCA","SNORD115-1","SNORD116-1","SNORD118","SNRPN","SNX14","SOD1","SORL1","SOX10","SPART","SPAST","SPEN","SPG11","SPG21","SPG7","SPIDR","SPR","SPRY4","SPTA1","SPTB","SPTBN1","SPTBN2","SPTLC1","SQSTM1","SRD5A3","SRPX2","STARD7","STAT3","STAT4","STIM1","STN1","STUB1","STX1A","STX1B","STXBP1","SUCLA2","SUFU","SUMF1","SUOX","SUPT16H","SURF1","SYNE1","SYNGAP1","SYNJ1","SYT1","SYT14","SYT2","SZT2","TACR3","TAF1","TANC2","TANGO2","TARDBP","TARS1","TAT","TBC1D23","TBC1D24","TBC1D2B","TBCD","TBCE","TBK1","TBL2","TBP","TCF20","TCF4","TCN2","TCTN1","TCTN2","TCTN3","TDP1","TDP2","TECPR2","TELO2","TERC","TERT","TGFB1","TGM6","TH","THG1L","TIA1","TIMMDC1","TINF2","TK2","TLR4","TMEM106B","TMEM107","TMEM126B","TMEM138","TMEM163","TMEM216","TMEM218","TMEM231","TMEM237","TMEM240","TMEM270","TMEM63A","TMEM67","TMEM70","TNFSF4","TNPO2","TOE1","TOGARAM1","TOMM40","TOP3A","TOPORS","TPK1","TPM2","TPM3","TPP1","TPR","TPRKB","TRAF3IP1","TRAF7","TRAK1","TRANK1","TRAPPC11","TRAPPC6B","TREM2","TRIM8","TRIO","TRNT1","TRPC3","TSFM","TSHB","TSPOAP1","TTBK2","TTC19","TTN","TTPA","TTR","TUBA1A","TUBB","TUBB2B","TUBB3","TUBB4A","TUBG1","TWNK","TXN2","UBA5","UBAC2","UBAP1","UBE3A","UBE3C","UBTF","UCHL1","UFC1","UQCRQ","UROC1","USF3","USH1C","USH1G","USH2A","VAMP1","VARS2","VCP","VLDLR","VPS13A","VPS13D","VPS35","VPS37D","VPS41","VPS4A","VPS51","VRK1","VWA1","VWA3B","WARS1","WARS2","WASHC5","WDR11","WDR19","WDR26","WDR73","WDR81","WFS1","WHRN","WWOX","XPA","XPC","XRCC1","XRCC4","YME1L1","YWHAE","YWHAG","ZBTB11","ZBTB20","ZEB2","ZFYVE26","ZNF142","ZNF365","ZNF423","ZNF592","ZSWIM6","ZSWIM7"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPOSEGMENTATION_OF_NEUTROPHIL_NUCLEI":{"collection":"C5:HPO","systematicName":"M46203","pmid":"","exactSource":"HP:0011447","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011447","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOSEGMENTATION_OF_NEUTROPHIL_NUCLEI","geneSymbols":["CEBPE","LBR","NBAS","SF3B1","TET2","TMEM147"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ANKLE_CLONUS":{"collection":"C5:HPO","systematicName":"M37851","pmid":"","exactSource":"HP:0011448","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011448","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANKLE_CLONUS","geneSymbols":["AARS1","ABCD1","ADGRG1","ANO10","ATL1","ATP6AP2","CAPN1","CARS1","CCDC88C","CD40LG","CYP27A1","CYP7B1","ERLIN2","FA2H","FGF13","GALC","GBA2","GFM2","HTT","KIF1A","KIF1C","KIF5A","KLC2","KPNA3","MARS1","NDUFS8","PEX16","PI4KA","PIGT","PLA2G6","POU3F4","PSAP","RAB18","REEP1","RTN2","SAMD9L","SELENOI","SLC16A2","SLC1A4","SLC39A14","SLC52A3","SMG9","SOD1","SPART","SPAST","SPG11","SPTBN2","STUB1","SYNE1","TCEAL1","TIMM8A","UCHL1","VAC14","VCP","ZFYVE27"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_KNEE_CLONUS":{"collection":"C5:HPO","systematicName":"M37852","pmid":"","exactSource":"HP:0011449","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011449","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_KNEE_CLONUS","geneSymbols":["GBA2","KIF5A","MTRFR","RTN2","SLC52A3","SPART","SPG11"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PRIMARY_MICROCEPHALY":{"collection":"C5:HPO","systematicName":"M37853","pmid":"","exactSource":"HP:0011451","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011451","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PRIMARY_MICROCEPHALY","geneSymbols":["AFF3","ANKLE2","ARHGEF2","ASNS","BUB1","CDK5RAP2","CDK6","CENPE","CEP135","CEP63","CIT","CLPB","COASY","COG7","CTNNB1","DISC1","DTYMK","EIF5A","EOMES","FIG4","FRMD4A","FZR1","GRIN2A","IARS1","IER3IP1","IFIH1","KAT6A","KATNB1","KNL1","LAGE3","LMNB2","MCPH1","MECP2","NCAPD2","NDE1","NSF","NUP188","NUP37","PCDH12","PDCD6IP","PHGDH","PIGH","PPFIBP1","PPP1R15B","PSAT1","RBBP8","RELN","RNF2","SASS6","SLC16A2","SLC1A4","SLC25A12","SLC25A19","SMC3","SPATA5","SPOP","STIL","TBCD","TBL1XR1","TELO2","TP53RK","TPRKB","TRAPPC12","TRAPPC14","TRIO","TRMT10A","TSEN54","TUBB","TUBB3","TXN2","VAC14","VPS4A","YRDC","ZEB2","ZNF335"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FUNCTIONAL_ABNORMALITY_OF_THE_MIDDLE_EAR":{"collection":"C5:HPO","systematicName":"M37854","pmid":"","exactSource":"HP:0011452","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011452","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FUNCTIONAL_ABNORMALITY_OF_THE_MIDDLE_EAR","geneSymbols":["ABCA4","ABCC6","ACVR1","ADAMTS3","AFF4","AGBL5","AHI1","AHR","AIFM1","ALX1","ALX3","AMER1","AMMECR1","ANKH","ANKRD11","APC2","ARHGAP29","ARHGEF18","ARHGEF38","ARID2","ARL2BP","ARL3","ARL6","ARSL","ARVCF","B3GALT6","B3GLCT","BBS1","BBS2","BEST1","BMP2","BMP4","BPTF","BRD4","CA2","CA4","CACNA1B","CASZ1","CC2D2A","CCBE1","CCDC103","CCDC39","CCDC40","CCDC65","CCNO","CDCA7","CDH1","CDH11","CDHR1","CDK5RAP2","CERKL","CFAP221","CFAP298","CFAP300","CFAP418","CFAP74","CHD7","CHRNG","CLRN1","CNGA1","CNGB1","CNOT1","CNOT3","COBLL1","COG1","COL11A2","COL1A2","COL2A1","COMT","CPLANE1","CPLX1","CRB1","CREB3L1","CREBBP","CRX","CTBP1","CTNND1","CTSK","DCHS1","DDR2","DEAF1","DHDDS","DHODH","DHX38","DIAPH3","DLG1","DLST","DLX4","DNAAF1","DNAAF11","DNAAF2","DNAAF3","DNAAF4","DNAAF5","DNAAF6","DNAH1","DNAH11","DNAH5","DNAH9","DNAI1","DNAI2","DNAJB13","DNAL1","DNMT3A","DRC1","DVL1","EDN1","EDNRA","EFTUD2","EIF5A","ELMO2","ELMOD3","ENPP1","EP300","EPAS1","ERCC6","ERCC8","ERF","EXT1","EYA1","EYS","FAM149B1","FAM161A","FAM20C","FANCF","FANCI","FAT4","FBN1","FBXW7","FGF10","FGF9","FGFR2","FGFR3","FGFRL1","FH","FKBP14","FLII","FLNA","FLNB","FOXJ1","FRAS1","FREM2","FSCN2","GABRD","GALNT2","GAS2L2","GAS8","GATA1","GDF5","GDF6","GJA1","GJB2","GJB6","GMNN","GNPTAB","GP1BB","GRHL3","GRIP1","GSC","GUCA1B","HAX1","HDAC4","HDAC8","HGSNAT","HIRA","HLA-B","HLA-DRB1","HNRNPK","HOXA2","HSPG2","HYDIN","IDH3A","IDH3B","IDS","IFT140","IFT172","IFT88","IGBP1","IL11RA","IMPDH1","IMPG1","IMPG2","IQSEC2","IRF6","JMJD1C","KCNAB2","KDM6A","KIAA0753","KIAA1549","KIF1B","KIF7","KIZ","KLHL7","KMT2D","LETM1","LMNA","LONP1","LRAT","LRP5","LRRC56","LUZP1","MAK","MAN2B1","MAP3K7","MASP1","MAX","MCIDAS","MDH2","MEOX1","MERTK","MMP23B","MPDU1","MSX1","MYCN","MYH3","NECTIN1","NEK1","NEK10","NEK2","NF1","NFIX","NIPBL","NME5","NME8","NOG","NOTCH2","NOTCH2NLC","NOTCH3","NR2E3","NRL","NSD1","NSD2","ODAD1","ODAD2","ODAD3","ODAD4","OFD1","OSTM1","OTOF","P4HA2","PAX1","PCARE","PCGF2","PDE6A","PDE6B","PDE6D","PDE6G","PDGFRA","PDPN","PGM3","PIGL","PIK3C2A","POLR1B","POLR1C","POLR1D","POMGNT1","POR","PORCN","POU3F4","PRCD","PRDM16","PRDM5","PRKCZ","PROM1","PRORP","PRPF3","PRPF31","PRPF4","PRPF6","PRPF8","PRPH2","PRRX1","PSMD12","PTPN22","RAB23","RAD21","RAI1","RBP3","RDH12","RECQL4","REEP6","RERE","RET","RGR","RHO","RIC1","RLBP1","ROBO1","ROM1","RP1","RP1L1","RP2","RP9","RPE65","RPGR","RPS23","RPS26","RPS28","RREB1","RSPH1","RSPH3","RSPH4A","RSPH9","SAG","SALL4","SC5D","SCAPER","SDHA","SDHAF2","SDHB","SDHC","SDHD","SEC24C","SEMA4A","SETD2","SF3B2","SF3B4","SGMS2","SH2B1","SIX1","SKI","SLC25A11","SLC25A24","SLC35C1","SLC7A14","SMC1A","SMC3","SMCHD1","SNRNP200","SNRPB","SOST","SOX9","SP7","SPAG1","SPATA7","SPEF2","SPEN","SRCAP","STAC3","STK36","TBX1","TBX22","TCOF1","TCTN3","TELO2","TFAP2A","TMEM127","TMEM216","TMEM67","TNFRSF11A","TOPORS","TP63","TRPS1","TSHZ1","TSR2","TTC12","TTC8","TUB","TULP1","TWIST1","TXNL4A","UBB","UBE4B","UFD1","USH2A","VARS1","VHL","ZBTB20","ZMPSTE24","ZMYND10","ZNF408","ZNF469","ZNF513","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LOSS_OF_EYELASHES":{"collection":"C5:HPO","systematicName":"M43402","pmid":"","exactSource":"HP:0011457","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011457","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOSS_OF_EYELASHES","geneSymbols":["GATA1","LMNA","RNU4ATAC","UROD","UROS","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ESOPHAGEAL_CARCINOMA":{"collection":"C5:HPO","systematicName":"M37855","pmid":"","exactSource":"HP:0011459","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011459","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ESOPHAGEAL_CARCINOMA","geneSymbols":["APC","ASCC1","CTHRC1","DCC","DLEC1","LZTS1","MSR1","RHBDF2","RNF6","STAT1","TGFBR2","TOM1","WWOX"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FETAL_ONSET":{"collection":"C5:HPO","systematicName":"M43403","pmid":"","exactSource":"HP:0011461","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011461","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FETAL_ONSET","geneSymbols":["ACTA1","ACTG2","ADCY6","ADGRG6","ALG1","ALG8","ALPK3","ALX4","ASNS","ATP1A2","B4GAT1","B9D1","B9D2","BICD2","BMPER","CALM2","CC2D2A","CCDC134","CCDC88C","CDC42BPB","CENPE","CHD7","CHRNG","CHUK","CLPB","CNTNAP1","COASY","COL2A1","COX16","CPSF3","CPT2","CRB2","CREB3L1","CRLS1","DCC","DEF6","DLL3","DYNC2LI1","ERCC5","ERCC8","EXOC7","EXOSC9","EZH2","FANCB","FARSA","FARSB","FGFR3","FH","FKBP14","FTO","FZR1","GBA1","GFRA1","GINS1","GLDN","GNPTAB","GRIP1","GUSB","HERC2","IARS1","IFIH1","IL6ST","KDELR2","KDM6A","KIAA0753","KIDINS220","KIF14","KIF20A","KIF5C","KIF7","KLF1","KMT2B","KMT2D","L1CAM","LBR","LGI4","LMNA","LMOD1","MAGEL2","MAP3K7","MCM10","MDFIC","MEGF10","MESP2","MKRN3","MKS1","MPDZ","MRPS22","MYH11","MYRF","NADK2","NDUFB11","NDUFB7","NEK8","NPAP1","NSD1","NSD2","NUP155","NUP88","OBSL1","P3H1","PAICS","PDX1","PI4KA","PIGA","PIGG","PLCH1","PLEC","PLG","PLOD3","PLXND1","POMK","PPP1CB","PPP3CA","PRIM1","PRKAG2","PRRX1","PSMD12","PWAR1","PWRN1","PYCR1","RAC1","RAD21","RECQL4","RIPK4","RMRP","RNF2","ROBO1","RPL10","RPL26","RYR1","SCN4A","SCN5A","SDHA","SDHD","SERPINH1","SHQ1","SIN3A","SKIC2","SLC12A1","SLC25A19","SLC30A9","SLC35A3","SLC35D1","SNAP25","SNORD115-1","SNORD116-1","SOS1","SOX10","SOX18","STRA6","STT3B","SYNE1","SYT2","TAF2","TBX18","TBXT","TCTN3","THSD1","TMEM216","TNFRSF11A","TNNT2","TOGARAM1","TPM1","TRAIP","TRIP11","TRPV6","TWIST2","TXNDC15","UBR1","USP18","VRK1","WDR19","WDR4","WNT3","WT1","XYLT1","ZIC2","ZIC3","ZMPSTE24","ZNF526"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_YOUNG_ADULT_ONSET":{"collection":"C5:HPO","systematicName":"M37856","pmid":"","exactSource":"HP:0011462","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011462","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_YOUNG_ADULT_ONSET","geneSymbols":["AAAS","AARS1","AARS2","ABCA4","ABHD12","ACTA1","ACTC1","ACTG1","ACTN2","ADGRG2","AFG3L2","AIP","AK7","AKAP3","ALDH18A1","ALDH5A1","ALG10B","AMACR","ANLN","ANO10","ANO3","ANO5","ANXA11","ANXA5","AOPEP","APC","APOA1","APPL1","ARHGEF18","ARL2BP","ASTL","ATL1","ATL3","ATN1","ATP11A","ATP13A2","ATP1A2","ATP1A3","ATP6AP2","ATP6V0A1","ATP7B","ATXN10","ATXN2","ATXN3","AURKC","B2M","B4GALNT1","BAG3","BAG5","BAP1","BBS2","BLK","BMPR2","BPY2","BRCA2","BRDT","BVES","C14orf39","C19orf12","C2CD6","CACNA1A","CACNB4","CAPN3","CARD9","CASK","CASQ2","CASR","CATIP","CATSPER1","CATSPER2","CAV1","CAV3","CBFB","CC2D2A","CCDC34","CCDC39","CCDC62","CCND1","CD164","CDC20","CDH2","CDY1","CDY2A","CEBPE","CEL","CEP78","CFAP251","CFAP43","CFAP44","CFH","CFI","CHCHD10","CHRNA1","CHRNA2","CIB1","CLCN1","CLCN2","CLN6","CNNM2","COCH","COL2A1","COL4A1","COL6A3","COQ8B","CPOX","CPT2","CRYBA2","CSF1R","CT55","CTNNA1","CTNS","CTSF","CYLD","CYP27A1","CYP7B1","DAB1","DAZ1","DAZ2","DAZ3","DDX3Y","DES","DGKE","DGUOK","DHTKD1","DIABLO","DIAPH2","DIAPH3","DNA2","DNAH1","DNAH17","DNAJB2","DNAJB4","DNAJB6","DNAJC3","DNAJC30","DNAJC5","DNALI1","DNHD1","DNM1L","DNMT1","DPY19L2","DRAM2","DRC1","DSC2","DSG2","DSP","DTNA","DYRK1B","DYSF","EIF2AK2","EIF2AK4","EIF2B3","ELMOD3","ELOVL4","ELOVL5","ENG","EPAS1","EPCAM","EPHA10","ERCC6","ERCC6L2","ESR2","F2","F5","FANCM","FARS2","FBLN5","FBN1","FBXO43","FDPS","FHL1","FIG4","FKBP6","FKTN","FLNC","FN1","FOXC1","FSHB","FSIP2","G6PD","GAA","GABRA3","GALC","GANAB","GARS1","GATA2","GBF1","GCK","GCNA","GDAP2","GDF9","GFAP","GGCX","GGN","GIPC1","GJC2","GNB4","GPIHBP1","GRN","GYG1","H6PD","HAMP","HAVCR2","HCN4","HFM1","HGSNAT","HINT1","HJV","HK1","HKDC1","HNRNPA1","HPRT1","HSFY1","HSPB1","HSPB3","HSPB8","HTRA1","ICOS","IDS","IFIH1","IFT140","IFT74","IKZF1","IL36RN","IMPG2","INF2","INS","INSR","IQCN","ITM2B","ITPR3","JAG2","JAK2","JPH2","KCNA5","KCNC3","KCND3","KCNE1","KCNH2","KCNJ11","KCNJ18","KCNJ2","KCNJ5","KCNK3","KCNQ1","KCNU1","KCTD17","KDM5D","KIF5A","KLHL24","KLHL3","KLHL7","KNG1","KPNA7","LAMA4","LBR","LGI1","LHB","LIG3","LIPE","LMF1","LMNA","LMX1B","LOX","LRP12","LYST","MAFA","MAFB","MAGT1","MAK","MAP1B","MAPKAPK3","MAPKBP1","MAPT","MARCHF6","MARS2","MATR3","MBD4","MCM6","MEFV","MEI1","MEIOB","MFRP","MFSD8","MGME1","MICAL1","MME","MOG","MORC2","MOS","MOV10L1","MSH3","MSH4","MSH5","MYBPC3","MYH6","MYH7","MYL4","MYPN","NAF1","NAGA","NAGLU","NEFL","NEXN","NF1","NF2","NLRP2","NLRP3","NLRP5","NLRP7","NOL3","NOTCH2NLC","NOTCH3","NPC1","NPHP1","NPPA","NPTX1","NR0B1","NR2E3","NR3C1","NRCAM","NRL","NT5C2","OBSCN","OPTN","OXGR1","P2RX2","PATL2","PDE11A","PDGFB","PDGFRB","PDHA2","PIK3R5","PKD2","PKHD1","PKP2","PLA2G6","PLCZ1","PLG","PLIN1","PLN","PMP2","PMP22","PMVK","PNLDC1","POF1B","POGLUT1","POLG","POLG2","POLRMT","PPARG","PPOX","PPP2R3C","PRDM16","PRDX3","PRKAG2","PRKAR1A","PRKN","PRKRA","PRLR","PRNP","PRPF4","PRPF6","PRPF8","PRPH2","PRRT2","PRY","PRY2","PSAP","PSEN1","PSEN2","PTEN","PTF1A","PUM1","QRICH2","RAB39B","RAF1","RAX2","RBM12","RBM20","RBMY1A1","REEP1","REEP6","RELN","RIGI","RILPL1","RIPOR2","RNASEH1","RNF216","RP1","RP2","RPGR","RPL10L","RPS19","RPS4Y2","RRAGD","RRM2B","RYR2","SAMD9L","SCARB2","SCN1A","SCN3B","SCN4A","SCN5A","SCNN1G","SDHD","SEC23B","SEC61A1","SELENBP1","SEMA3A","SEPTIN12","SERPINA1","SERPING1","SERPINH1","SETX","SFTPA1","SGCD","SGO1","SH3BP2","SHANK3","SHOC1","SLC12A5","SLC17A9","SLC19A2","SLC19A3","SLC22A12","SLC25A4","SLC26A1","SLC26A8","SLC2A10","SLC34A2","SLC37A4","SLC39A14","SLC44A4","SLC4A1","SLC4A11","SLC4A3","SLC4A4","SLC7A6OS","SLCO2A1","SMN1","SMN2","SMPD1","SMPX","SNCA","SNORD118","SNTA1","SOCS1","SOHLH1","SOST","SPAG17","SPG11","SPINK2","SPRY2","SPTLC1","SPTLC2","SSBP1","SSX1","STAG3","STAT1","STOX1","STRC","STT3A","SUFU","SUN5","SYCE1","SYCP2","SYCP3","SYNJ1","TAF4B","TBC1D24","TBP","TBX18","TBX3","TDRD9","TECRL","TERB1","TERB2","TERT","TEX11","TEX14","TEX15","TGFBI","THAP1","THSD4","TIA1","TIE1","TIMP3","TINF2","TLCD3B","TLR7","TLR8","TMEM126B","TMEM43","TNC","TNFAIP3","TNNC1","TNNI3","TNNT1","TNNT2","TOR1AIP1","TP53","TP63","TPM1","TPP1","TRDN","TRIM32","TRMT5","TRPC6","TRPM3","TRPV4","TSGA10","TTBK2","TTC21A","TTLL5","TTN","TUBB4A","TULP3","TWNK","TYROBP","UBQLN2","UNC13D","USP26","USP48","USP9Y","VAMP1","VAPB","VCL","VCP","VCY","VEZF1","VHL","VPS11","VPS13D","VPS16","VSX1","WASHC5","WDR19","WEE2","WNT4","XKRY","XRCC1","XRCC2","YARS1","YEATS2","ZFP36L2","ZMYND15","ZNF408","ZP1","ZP3","ZPBP","ZSWIM7"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CHILDHOOD_ONSET":{"collection":"C5:HPO","systematicName":"M37857","pmid":"","exactSource":"HP:0011463","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011463","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHILDHOOD_ONSET","geneSymbols":["AAAS","AARS2","ABCA4","ABCB6","ABHD12","ACADS","ACADSB","ACO2","ACP5","ACSL4","ACTC1","ADA2","ADAM10","ADAMTS19","ADAR","ADCY3","ADGRV1","ADPRS","AEBP1","AFG3L2","AGA","AGPAT2","AGR2","AGRN","AGTPBP1","AICDA","AIFM1","AIRE","ALAS2","ALDH5A1","ALG10B","ALG2","ALPK3","ALS2","AMFR","AMT","ANK1","ANKH","ANKS6","ANTXR2","AP1S2","AP4E1","APC2","APCDD1","APRT","APTX","AQP5","ARG1","ARHGEF9","ARL6IP1","ARSB","ARSK","ASAH1","ASPH","ATM","ATOH1","ATP11A","ATP13A3","ATP1A2","ATP1A3","ATP2A1","ATP2B1","ATP2B2","ATP5F1D","ATP5MC3","ATP6AP1","ATP6V0A4","ATP6V1A","ATP7B","ATP9A","ATR","ATRX","B3GALNT2","B4GALNT1","BAAT","BAG3","BANF1","BBS2","BDP1","BFSP1","BGN","BICD2","BRCA1","BTD","BTK","C19orf12","C1QB","C1QC","C3","CA5A","CACNA1B","CACNA1H","CACNA1I","CACNA1S","CACNB4","CACNG2","CAD","CADM3","CALM1","CALM2","CAPN3","CARD9","CARMIL2","CASK","CASQ2","CASR","CAV1","CBFB","CBLIF","CBS","CC2D1A","CCDC134","CCDC39","CCDC78","CCT5","CD19","CD46","CD55","CDH2","CEP290","CEP78","CFAP410","CFAP74","CFB","CFI","CFL2","CFTR","CHCHD10","CHD2","CHKA","CHM","CHP1","CHRNA2","CHRNA4","CHRNE","CIB1","CIC","CILK1","CLCN1","CLCN2","CLCN7","CLCNKB","CLDN19","CLIC5","CLN8","CLPB","CLRN1","CNGA3","CNNM2","CNP","COA7","COA8","COASY","COL10A1","COL17A1","COL18A1","COL1A1","COL1A2","COL27A1","COL2A1","COL4A1","COL6A2","COL9A2","COPA","COPB2","COQ6","COQ8A","COQ8B","COX6A1","CPA6","CPT1A","CPT2","CRAT","CRB1","CRB2","CRPPA","CSF1R","CSF3R","CTNNBL1","CTSD","CUBN","CUX2","CWF19L1","CXCR2","CYB561","CYBB","CYP11B1","CYP27B1","CYP2R1","CYP2U1","CYP3A4","CYP7B1","DAAM2","DAB1","DAG1","DARS1","DBR1","DDB1","DDHD2","DEF6","DGKE","DHX38","DIAPH1","DMD","DMXL2","DNAH1","DNAH11","DNAH9","DNAJB4","DNAJC21","DNAJC3","DNAJC30","DNASE1L3","DOK7","DPAGT1","DPYD","DSP","DSTYK","DTNBP1","DYM","DYNC1H1","DZIP1L","ECM1","EDAR","EDARADD","EDC3","EFL1","EIF2AK2","EIF2B4","EIF2B5","ELF4","EMC10","EMD","EMILIN1","ENPP1","EPRS1","ERCC4","ERCC6","ERF","ERLIN2","EXOC7","EXPH5","EXT1","EXT2","F13A1","F2","F7","FA2H","FANCB","FBLN5","FBXO7","FCGR2A","FCHO1","FCSK","FDXR","FECH","FEZF1","FGA","FGB","FGD4","FGF13","FGF14","FGFR1","FGG","FHL1","FKTN","FLG","FLNC","FLVCR1","FMR1","FOXE3","FOXP2","FRG1","FRRS1L","FTSJ1","FZR1","G6PC1","G6PD","GABRA3","GABRG2","GALC","GALE","GATM","GBA1","GBA2","GBF1","GCDH","GCH1","GDAP1","GEMIN5","GFAP","GFPT1","GH1","GHR","GIMAP5","GJB2","GJC2","GK","GLB1","GLRA2","GLS","GMPPB","GNB2","GNB3","GNPTAB","GNS","GON7","GOSR2","GPIHBP1","GPNMB","GPR101","GRM6","GRXCR2","GTPBP2","GTPBP3","GUCY1A1","GUCY2D","GYG1","HABP2","HADHB","HARS1","HAVCR2","HAX1","HCN1","HDAC4","HECTD4","HEPACAM","HGSNAT","HINT1","HK1","HPDL","HPRT1","HS6ST2","HSD11B2","HSPG2","HYAL1","HYDIN","ICOS","IDH3A","IDS","IDUA","IFIH1","IFT140","IFT43","IGHM","IGHMBP2","IGKC","IKBKB","IKZF1","IL11RA","IL17RC","IL21R","IL36RN","IL6ST","IMPDH1","IMPG2","INPP5K","INSR","IRF2BPL","IRF7","IRF8","ISCU","ITK","ITPR3","JAG1","JAG2","KANK2","KBTBD13","KCNA2","KCNB1","KCNC1","KCNH2","KCNJ11","KCNMA1","KCNN2","KCNN4","KCNQ1","KCNQ5","KCNT1","KCTD17","KDELR2","KDM5C","KERA","KIF12","KIF14","KIF1C","KIF3B","KIRREL1","KLC2","KMT2A","KMT2B","KPTN","KRT1","KRT14","KRT5","KRT74","KRT83","LACC1","LAGE3","LAMA2","LAMA5","LAMP2","LCK","LEP","LETM1","LGI3","LIG1","LIG3","LIMS2","LIPN","LMBRD1","LMNA","LMNB2","LNPK","LOXL3","LPIN1","LRIG2","LRIT3","LTBP3","LTV1","LYRM7","MACF1","MAD1L1","MAD2L2","MAFB","MAG","MAP2K2","MAP3K20","MAPK8IP3","MARS1","MARS2","MAST3","MCM3AP","MCM6","MECP2","MECR","MEFV","MEGF10","MERTK","MFN2","MIR184","MLIP","MLPH","MMP14","MMP2","MOCOS","MPIG6B","MPZL2","MRE11","MRPS7","MS4A1","MSMO1","MSX1","MTHFR","MTRFR","MTX2","MYH7","MYO1E","MYO5B","MYPN","MYRF","NAT8L","NAXD","NAXE","NBEA","NCF4","NDP","NDRG1","NDST1","NDUFA1","NDUFA6","NDUFAF2","NDUFAF6","NDUFC2","NEFL","NEMF","NF1","NFATC2","NFIX","NFKB1","NFKB2","NFU1","NGF","NKX2-1","NKX6-2","NLGN3","NLGN4X","NLRP1","NLRP3","NMNAT1","NPC2","NPHS2","NR0B1","NR4A2","NRIP1","NSD1","NT5C2","NUBPL","NUP133","NUP62","NUP85","NUS1","NYX","OAT","OCRL","OFD1","OPA1","ORAI1","OTC","P3H2","PADI3","PANK2","PANK4","PCDH19","PCSK1","PDE6B","PDE6C","PDE6G","PDGFB","PDGFRB","PDK3","PDSS1","PDXK","PEPD","PET117","PEX10","PEX13","PEX16","PEX2","PFKM","PGAP1","PHKA2","PHKB","PHKG2","PI4KA","PIDD1","PIGM","PIK3CD","PIK3R1","PITPNM3","PITRM1","PKHD1","PKLR","PLA2G6","PLCE1","PLCG2","PLEC","PLEKHG5","PLEKHM1","PLP1","PLXNA1","PMM2","PMP22","PMPCB","PNKD","PNKP","PNPLA8","PNPT1","POC1B","POLA1","POLE","POLG","POLR1C","POLR3A","POLR3B","POLRMT","POMT1","POMT2","PPA2","PPCS","PPP2CA","PPP3CA","PRDM12","PRKAG2","PRKG2","PRKRA","PROM1","PRPF8","PRPS1","PRSS12","PRX","PSAP","PSMB8","PSMD12","PTPRQ","PURA","PUS1","PUS7","PYGM","PYROXD1","RAB28","RAB33B","RAC1","RACGAP1","RAD51","RAF1","RASGRP2","RAX2","RBP4","RDH11","RDH12","REEP1","REEP2","REEP6","REL","REST","RGS9BP","RHO","RHOBTB2","RHOH","RIGI","RIPOR2","RMRP","RNF170","RNF216","RNF220","RORB","RORC","RP1","RP2","RPE65","RPGR","RPS19","RPS26","RPS29","RRAGD","RRM2B","RSPH9","RTN4IP1","RYR1","RYR2","SAMD9","SAMHD1","SASH3","SBF2","SCAPER","SCN1A","SCN2A","SCN3A","SCN4B","SCN5A","SCN8A","SCNN1B","SCYL1","SDHB","SEC23B","SEC61A1","SERPINB7","SERPING1","SETD1A","SFRP4","SGCD","SGCE","SGCG","SGPL1","SGSH","SH2D1A","SH3BP2","SH3TC2","SIGMAR1","SIL1","SIN3A","SLC12A5","SLC12A6","SLC13A3","SLC16A1","SLC19A2","SLC19A3","SLC20A2","SLC22A5","SLC24A1","SLC24A4","SLC25A19","SLC26A1","SLC2A10","SLC30A9","SLC34A1","SLC34A2","SLC38A3","SLC39A4","SLC39A7","SLC4A4","SLC52A3","SLC6A1","SLC6A19","SLC7A14","SLC9A1","SMPD1","SMPX","SNORD118","SNRPN","SNX10","SNX14","SOCS1","SOX11","SOX18","SPARC","SPART","SPATA5L1","SPG11","SPG21","SPTLC1","SPTLC2","SSBP1","STAT1","STAT2","STAT3","STEAP3","STIM1","STK11","STK4","STN1","STS","STT3A","STX11","STX1B","STXBP2","SVIL","SYNE1","SYNE2","SYNE4","SYT14","SYT2","TACO1","TACSTD2","TBC1D24","TBC1D2B","TBC1D8B","TBCE","TBX18","TCF3","TCF4","TCHH","TECPR2","TECRL","TFG","TGFB1","TGFBI","THRB","TIAM1","TICAM1","TIMM8A","TINF2","TK2","TMEM126B","TMEM240","TMEM38B","TMEM63C","TMPRSS3","TNFAIP3","TNFRSF9","TNNT2","TP63","TPK1","TPM1","TPM2","TPP1","TPP2","TPRKB","TRAC","TRAF3","TRAF3IP2","TRAPPC10","TRAPPC11","TRAPPC6B","TRDN","TREX1","TRIO","TRIP13","TRNT1","TRPM3","TRPV4","TRRAP","TTC19","TTC8","TTLL5","TTN","TUBB4A","TUBB4B","TULP3","TUSC3","UBA5","UBAP1","UBTF","UCHL1","UFSP2","UNC119","UNC13D","UNC45B","UNG","UPF3B","UQCRH","UROC1","USP48","USP53","VAC14","VCP","VEGFC","VHL","VMA21","VPS13D","VPS16","VPS37A","VPS41","VWA1","WARS2","WDR19","WDR45","WDR62","WFS1","WNT10A","WT1","XIAP","XPC","ZFYVE19","ZMYND10","ZNF408","ZNF644","ZNF711","ZNFX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABSENT_GALLBLADDER":{"collection":"C5:HPO","systematicName":"M47183","pmid":"","exactSource":"HP:0011467","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011467","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_GALLBLADDER","geneSymbols":["CC2D2A","CNOT1","FOXF1","GATA6","INTU","RFX6","SON"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FACIAL_TICS":{"collection":"C5:HPO","systematicName":"M41416","pmid":"","exactSource":"HP:0011468","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011468","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FACIAL_TICS","geneSymbols":["ATP1A2","CACNA1A","GABRA1","GABRG2","KCNQ2","KCNQ3","PCDH19","PLA2G6","PNPT1","PRRT2","SCN1A","SCN1B","SCN2A","SCN9A","TTR"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NASAL_REGURGITATION":{"collection":"C5:HPO","systematicName":"M37860","pmid":"","exactSource":"HP:0011469","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011469","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NASAL_REGURGITATION","geneSymbols":["AGRN","CHAT","COL13A1","GRHL3","MYO9A","SLC18A3","SLC25A1","SLC5A7","SNAP25","SYT2","TOP3A","TUBB6","UBB","VAMP1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NASOGASTRIC_TUBE_FEEDING_IN_INFANCY":{"collection":"C5:HPO","systematicName":"M37861","pmid":"","exactSource":"HP:0011470","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011470","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NASOGASTRIC_TUBE_FEEDING_IN_INFANCY","geneSymbols":["ACTA1","BRAF","CLTCL1","COL2A1","COX8A","CREBBP","CTCF","DYRK1A","EDEM3","EP300","FOXP2","GALC","GFM2","GPT2","GRM7","HACD1","HNRNPK","IDH1","ITGA7","KANSL1","MAP3K20","MT-TE","MYL2","NALCN","PDE10A","PIGT","PSAP","PUF60","SATB2","SELENON","SNRPN","TFG","TP63","TPM2","TPM3","TRMU","UNC80"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_GASTROSTOMY_TUBE_FEEDING_IN_INFANCY":{"collection":"C5:HPO","systematicName":"M37862","pmid":"","exactSource":"HP:0011471","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011471","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GASTROSTOMY_TUBE_FEEDING_IN_INFANCY","geneSymbols":["ACTA1","ADNP","AFF4","ALG12","ALS2","ASPA","BLM","BRAF","C2CD3","CAMLG","CDON","CLCN6","CLN8","COG5","COL2A1","COL7A1","DALRD3","DCHS1","DEGS1","DISP1","DLK1","DLL1","DNM1L","DPM1","FAT4","FDFT1","FGF8","FGFR1","FOXH1","FUS","GAS1","GLI2","GNPTAB","ITCH","KLHL40","KRT14","KRT5","LONP1","LRPPRC","MECP2","MEG3","MGAT2","MTRFR","MYO1H","NODAL","NRCAM","PDHA1","PGAP1","PGAP2","PGAP3","PIGL","PIGO","PIGU","PIGV","PIGW","PIGY","PLCH1","PNPT1","PPP2R1A","PRPS1","PSAT1","PTCH1","PTPN23","RALGAPA1","RNF13","RTL1","SCN1A","SCN3A","SEPSECS","SETBP1","SHH","SIGMAR1","SIX3","SLC1A4","SLC5A6","SMC1A","SON","SPATA5","SPG11","SPOP","SPTBN4","SPTLC1","STAG2","STIL","SYNE1","TBCK","TCEAL1","TDGF1","TGIF1","TOR1A","TRAPPC12","TRIO","TRIP4","TSEN15","TSEN2","TSEN34","TSEN54","UBTF","UGDH","WDR26","YY1","ZIC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CHILDHOOD_ONSET_SENSORINEURAL_HEARING_IMPAIRMENT":{"collection":"C5:HPO","systematicName":"M37864","pmid":"","exactSource":"HP:0011474","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011474","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHILDHOOD_ONSET_SENSORINEURAL_HEARING_IMPAIRMENT","geneSymbols":["ADCY1","ATP2B2","CDH23","COCH","ESPN","FOXP2","GIPC3","GJB2","GJB6","HGF","IARS2","IGF1","MARVELD2","NDE1","PRG4","RIPOR2","SARDH","SETBP1","TIMM8A","TK2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PROFOUND_SENSORINEURAL_HEARING_IMPAIRMENT":{"collection":"C5:HPO","systematicName":"M37865","pmid":"","exactSource":"HP:0011476","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011476","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROFOUND_SENSORINEURAL_HEARING_IMPAIRMENT","geneSymbols":["CIB2","FGF3","KARS1","KCNE1","KCNQ1","MYO15A","PMP22","PRPS1","RDX","SLC12A2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_LACRIMAL_PUNCTUM_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M43404","pmid":"","exactSource":"HP:0011479","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011479","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LACRIMAL_PUNCTUM_MORPHOLOGY","geneSymbols":["FGF10","FGFR2","FGFR3","FOXL2","PPP2R3C","TP63","UBR1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_LACRIMAL_DUCT_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M37866","pmid":"","exactSource":"HP:0011481","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011481","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LACRIMAL_DUCT_MORPHOLOGY","geneSymbols":["CD151","COL3A1","CREBBP","EP300","EYA1","FGF10","FGFR2","FGFR3","FOXL2","FRAS1","FREM1","FREM2","GRIP1","HMX1","IGSF3","KAT6A","KMT2D","KNSTRN","MED12","MEGF8","NDUFB11","NHP2","NOP10","PAX1","PAX3","PIK3CD","PPP1CB","PRR12","PTDSS1","SIX1","SIX5","SMC3","SMC5","SMCHD1","SOX6","SPRED2","TAF1","TCOF1","TET3","TFAP2A","TGDS","TP63","TRRAP","USB1","YY1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_LACRIMAL_GLAND_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M37867","pmid":"","exactSource":"HP:0011482","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011482","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LACRIMAL_GLAND_MORPHOLOGY","geneSymbols":["BTNL2","FGF10","FGFR2","FGFR3","FOXL2","GJB2","GJB6","HLA-DRB1","SLC25A24","SOX10"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ANTERIOR_SYNECHIAE_OF_THE_ANTERIOR_CHAMBER":{"collection":"C5:HPO","systematicName":"M41417","pmid":"","exactSource":"HP:0011483","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011483","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANTERIOR_SYNECHIAE_OF_THE_ANTERIOR_CHAMBER","geneSymbols":["ASPH","COL18A1","COL8A2","CYP1B1","FOXC1","FOXE3","GRHL2","OVOL2","PAX6","PITX2","PXDN","VSX1","ZEB1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_POSTERIOR_SYNECHIAE_OF_THE_ANTERIOR_CHAMBER":{"collection":"C5:HPO","systematicName":"M43405","pmid":"","exactSource":"HP:0011484","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011484","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POSTERIOR_SYNECHIAE_OF_THE_ANTERIOR_CHAMBER","geneSymbols":["ADAMTS17","ATOH7","CYP1B1","FOXC1","FOXE3","HMX1","LARGE1","LCA5","LRAT","MIR204","RPE65","SPATA7"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_CORNEAL_THICKNESS":{"collection":"C5:HPO","systematicName":"M41418","pmid":"","exactSource":"HP:0011486","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011486","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_CORNEAL_THICKNESS","geneSymbols":["ABCA4","AGBL5","AHI1","AHR","AIPL1","ANTXR1","AP1B1","ARHGEF18","ARL2BP","ARL3","ARL6","BBS1","BBS2","BEST1","CA4","CC2D2A","CDHR1","CEP290","CERKL","CFAP418","CHRDL1","CHST6","CLRN1","CNGA1","CNGB1","COL3A1","CRB1","CRX","DCN","DDR2","DHDDS","DHX38","EYS","FAM161A","FGF10","FGFR2","FGFR3","FSCN2","GDF6","GNB5","GUCA1B","GUCY2D","HGSNAT","HRAS","IDH3A","IDH3B","IFT140","IFT172","IFT88","IMPDH1","IMPG1","IMPG2","IQCB1","KCNJ13","KERA","KIAA1549","KIZ","KLHL7","LCA5","LMX1B","LRAT","MAK","MERTK","MIR184","NEK2","NMNAT1","NR2E3","NR2F1","NRL","OFD1","PCARE","PCYT1A","PDE6A","PDE6B","PDE6G","PIEZO2","PLOD1","POMGNT1","PRCD","PRDM5","PROM1","PRPF3","PRPF31","PRPF4","PRPF6","PRPF8","PRPH2","RBP3","RD3","RDH12","REEP6","RGR","RHO","RLBP1","ROM1","RP1","RP1L1","RP2","RP9","RPE65","RPGR","RPGRIP1","SAG","SCAPER","SEMA4A","SLC2A10","SLC4A11","SLC7A14","SNRNP200","SPATA7","TOPORS","TTC8","TUB","TUBA3D","TUBB4B","TULP1","USH2A","USP45","VSX1","ZEB1","ZNF408","ZNF469","ZNF513"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INCREASED_CORNEAL_THICKNESS":{"collection":"C5:HPO","systematicName":"M43406","pmid":"","exactSource":"HP:0011487","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011487","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_CORNEAL_THICKNESS","geneSymbols":["DCN","FGF10","FGFR2","FGFR3","SLC4A11"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CORNEAL_ENDOTHELIUM_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M37868","pmid":"","exactSource":"HP:0011488","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011488","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CORNEAL_ENDOTHELIUM_MORPHOLOGY","geneSymbols":["AGBL1","COL8A2","CYP1B1","FOXC1","FOXE3","GRHL2","KCNJ13","LCA5","LRAT","OVOL2","PAX6","PITX2","RPE65","SLC4A11","SPATA7","TCF4","VSX1","ZEB1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_DESCEMET_MEMBRANE_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M43407","pmid":"","exactSource":"HP:0011490","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011490","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_DESCEMET_MEMBRANE_MORPHOLOGY","geneSymbols":["AGBL1","COL8A2","CYP1B1","FOXC1","FOXE3","GRHL2","KCNJ13","OVOL2","PAX6","PITX2","SLC4A11","TCF4","VSX1","ZEB1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_REDUCED_NUMBER_OF_CORNEAL_ENDOTHELIAL_CELLS":{"collection":"C5:HPO","systematicName":"M43408","pmid":"","exactSource":"HP:0011491","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011491","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_NUMBER_OF_CORNEAL_ENDOTHELIAL_CELLS","geneSymbols":["AGBL1","COL8A2","GRHL2","OVOL2","SLC4A11","TCF4","VSX1","ZEB1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CORNEAL_STROMA_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M37869","pmid":"","exactSource":"HP:0011492","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011492","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CORNEAL_STROMA_MORPHOLOGY","geneSymbols":["ABCA1","ABCG8","AIRE","ALDH18A1","ANKRD55","APOA1","APOA2","APOB","APOE","ASAH1","B4GAT1","CD247","CHRDL1","CHST6","COL18A1","COL8A2","CTNS","CTSA","CYP1B1","CYP4V2","DDB2","EPHX2","ERCC2","ERCC3","ERCC4","ERCC5","ERCC6","ERCC8","ESCO2","FLG","FOXC1","FOXE3","GALNS","GBA1","GHR","GLB1","GNAS","GNPTAB","GNPTG","GRHL2","IDS","IDUA","IL2RA","IL2RB","JAG1","KERA","KRAS","KRT12","LCAT","LDLR","LIFR","LIPC","LZTR1","MBTPS2","MCOLN1","MMP2","NAGA","NDP","NLRP3","NOD2","NTRK1","OCLN","OVOL2","PAX6","PCSK9","PDGFRB","PEX1","PEX2","PEX5","PITX2","PITX3","POMGNT1","PPP1R17","PRDX3","PSMB8","PTPN2","PTPN22","RAB23","RIPK4","SC5D","SLC29A3","SLC4A11","SLC4A4","SMARCAL1","SOS2","SREBF1","STAT4","STS","TACSTD2","TCF4","TEK","TGFBI","TRAPPC2","TRPV3","TRPV4","UBIAD1","VSX1","VSX2","WDR73","WT1","XPA","XPC","ZEB1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CENTRAL_OPACIFICATION_OF_THE_CORNEA":{"collection":"C5:HPO","systematicName":"M37870","pmid":"","exactSource":"HP:0011493","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011493","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CENTRAL_OPACIFICATION_OF_THE_CORNEA","geneSymbols":["ANKRD55","CD247","COL18A1","CYP1B1","FOXC1","FOXE3","GNAS","IL2RA","IL2RB","JAG1","NOD2","OVOL2","PAX6","PITX2","PTPN2","PTPN22","SLC4A4","STAT4","TACSTD2","TGFBI","VSX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CORNEAL_EPITHELIUM_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M37871","pmid":"","exactSource":"HP:0011495","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011495","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CORNEAL_EPITHELIUM_MORPHOLOGY","geneSymbols":["AARS1","ABCA12","AEBP1","AIRE","ALDH3A2","ALOX12B","ALOXE3","BTNL2","C4A","CARS1","CCR1","CERS3","CHST6","CLTCL1","COL17A1","COL4A3","COL4A4","COL4A5","COL4A6","COL7A1","CRLF1","CTNS","DCN","DDB2","ELP1","EPCAM","ERAP1","ERCC2","ERCC3","ERCC4","ERCC5","ERCC6","ERCC8","FAS","FBN1","FERMT1","FGF10","FGFR2","FGFR3","FOXC2","GATA1","GJB2","GJB6","GSN","GTF2E2","GTF2H5","HLA-B","HLA-DRB1","HLCS","IARS2","IFNGR1","IKBKG","IKZF1","IL10","IL12A","IL12A-AS1","IL23R","IL6ST","KIFBP","KLRC4","KRT3","LBR","LMNA","MAB21L1","MBTPS2","MEFV","MMP1","MPLKIP","MPV17","MTTP","NGLY1","NIPAL4","NLRP1","NLRP3","NOD2","NTRK1","PAX6","PERCC1","PLCG2","PLEC","PNPLA1","POLH","PRDM12","PRDM5","RECQL","RIPK4","RNF113A","RNF125","SCN9A","SDR9C7","SLC35C1","SLC39A4","SPINT2","SREBF1","STAT4","SULT2B1","TARS1","TAT","TGFBI","TGM1","TLR4","TP63","TWIST2","UBAC2","UROD","UROS","WAS","WIPF1","WT1","XPA","XPC","ZEB1","ZMPSTE24","ZNF469"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CORNEAL_NEOVASCULARIZATION":{"collection":"C5:HPO","systematicName":"M37872","pmid":"","exactSource":"HP:0011496","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011496","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CORNEAL_NEOVASCULARIZATION","geneSymbols":["ARVCF","COL4A1","COMT","CYP1B1","DDR2","ERCC2","FGF10","FGFR2","FGFR3","GJB2","GJB6","GP1BB","HIRA","JMJD1C","MBTPS2","NGLY1","NLRP1","PAX6","RREB1","SEC24C","SREBF1","TACSTD2","TBX1","UFD1","WT1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MYDRIASIS":{"collection":"C5:HPO","systematicName":"M37873","pmid":"","exactSource":"HP:0011499","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011499","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MYDRIASIS","geneSymbols":["ACTA2","ATP1A2","ATP1A3","BAP1","CACNA1A","CYSLTR2","GNA11","GNAQ","LOXL1","MYH11","MYL9","OSTM1","PEX10","SF3B1","SLC1A3","TMEM53"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BULL_S_EYE_MACULOPATHY":{"collection":"C5:HPO","systematicName":"M37874","pmid":"","exactSource":"HP:0011504","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011504","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BULL_S_EYE_MACULOPATHY","geneSymbols":["ABCA4","CLN3","CRLS1","HARS1","IMPDH1","MAK","MFSD8","PROM1","RAX2","RP2","TLCD3B","TMCO1","VPS13B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CYSTOID_MACULAR_EDEMA":{"collection":"C5:HPO","systematicName":"M37875","pmid":"","exactSource":"HP:0011505","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011505","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CYSTOID_MACULAR_EDEMA","geneSymbols":["ARHGEF18","ARL3","CYP4V2","DHDDS","HLA-A","IDH3A","KIAA1549","KLHL7","MFRP","NOD2","PDE6G","POMGNT1","PRPF8","PRPH2","RDH5","REEP6","RHO","RLBP1","RP1L1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CHOROIDAL_NEOVASCULARIZATION":{"collection":"C5:HPO","systematicName":"M37876","pmid":"","exactSource":"HP:0011506","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011506","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHOROIDAL_NEOVASCULARIZATION","geneSymbols":["ABCC6","AGXT","APOE","C1QTNF5","CFH","CFHR1","CFHR3","CFI","CLCN2","CLEC3B","EFEMP1","ENPP1","FBLN1","FBLN5","FBN2","HLA-A","HMCN1","MAPKAPK3","PRPH2","TIMP3","XYLT1","XYLT2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MACULAR_HYPERPIGMENTATION":{"collection":"C5:HPO","systematicName":"M43409","pmid":"","exactSource":"HP:0011509","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011509","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MACULAR_HYPERPIGMENTATION","geneSymbols":["ADAR","CFH","CFI","CRX","EFEMP1","PAX2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DRUSEN":{"collection":"C5:HPO","systematicName":"M37877","pmid":"","exactSource":"HP:0011510","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011510","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DRUSEN","geneSymbols":["ABCC6","ALMS1","APOE","C1QTNF5","CFH","CFHR1","CFHR3","CFI","CTNNA1","EFEMP1","ESPN","FBLN5","GUCA1A","GUCY2D","HMCN1","IFT172","IMPG1","LCA5","LRAT","MFRP","PRPF8","PRPH2","RPE65","SPATA7","TMEM98","UNC119","XYLT1","XYLT2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPERPIGMENTATION_OF_THE_FUNDUS":{"collection":"C5:HPO","systematicName":"M37878","pmid":"","exactSource":"HP:0011512","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011512","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERPIGMENTATION_OF_THE_FUNDUS","geneSymbols":["APC","CAPN5","CFH","CFI","EFEMP1","MUTYH","POU3F4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_BINOCULAR_VISION":{"collection":"C5:HPO","systematicName":"M47184","pmid":"","exactSource":"HP:0011514","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011514","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_BINOCULAR_VISION","geneSymbols":["ADPRS","AGRN","AIP","AK9","ANO10","ATP1A2","ATXN3","CACNA1A","CACNA1G","CDH23","CHAT","CHRNA1","CHRNB1","CHRND","CHRNE","COL13A1","DARS2","DKK1","DNAJC13","DNAJC6","DOK7","EIF4G1","ERCC2","ERCC3","ERCC4","ERCC5","FGF14","GBA1","GIGYF2","GRK1","HLA-B","HLA-DQB1","HLA-DRB1","HTRA2","KCNA1","KCND3","LRP4","LRRK2","MAPT","MEN1","MGME1","MT-TL1","MT-TL2","MT-TN","MT-TS1","MUSK","MYO5A","MYO9A","NAB2","NF2","NFKB2","NOP56","NPTX1","P4HA2","PARK7","PDCD1","PINK1","PODXL","POLG","PRKN","PRNP","PRRT2","PTPN22","PUM1","RAPSN","RILPL1","SAG","SAMD9L","SCN1A","SCN4A","SDHA","SERPINI1","SLC18A3","SLC1A3","SLC25A1","SLC2A1","SLC5A7","SNAP25","SNCA","SPTBN2","STAT6","SYNJ1","SYT2","TGFB1","TMEM240","TOP3A","TPP1","TTC19","TTR","TYMP","UCHL1","VAMP1","VPS13C","VPS35"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ACHROMATOPSIA":{"collection":"C5:HPO","systematicName":"M37879","pmid":"","exactSource":"HP:0011516","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011516","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACHROMATOPSIA","geneSymbols":["ATF6","CNGA3","CNGB3","GNAT2","NBAS"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ANOMALOUS_TRICHROMACY":{"collection":"C5:HPO","systematicName":"M37880","pmid":"","exactSource":"HP:0011519","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011519","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANOMALOUS_TRICHROMACY","geneSymbols":["C1QTNF5","DNM1L","GUCY2D","NR2E3","OPA1","OPA3","OPN1LW","OPN1MW","OPN1SW","POC1B","RBP4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_LENS_SHAPE":{"collection":"C5:HPO","systematicName":"M37881","pmid":"","exactSource":"HP:0011526","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011526","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_LENS_SHAPE","geneSymbols":["ADAMTS10","ASPH","COL4A3","COL4A4","COL4A5","COL4A6","CRYAB","ERCC6","ERCC8","FBN1","LAMB2","LTBP2","OCRL","PRPH2","RDH5","RHO","RLBP1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RETINAL_HOLE":{"collection":"C5:HPO","systematicName":"M46204","pmid":"","exactSource":"HP:0011530","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011530","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETINAL_HOLE","geneSymbols":["COL2A1","CTNNB1","FZD4","LRP5","NDP","ZNF408"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_VITRITIS":{"collection":"C5:HPO","systematicName":"M37882","pmid":"","exactSource":"HP:0011531","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011531","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VITRITIS","geneSymbols":["COX7B","HCCS","HLA-A","NDUFB11","RB1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_ATRIAL_ARRANGEMENT":{"collection":"C5:HPO","systematicName":"M41419","pmid":"","exactSource":"HP:0011535","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011535","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ATRIAL_ARRANGEMENT","geneSymbols":["CCDC103","CCDC39","CCDC40","CCDC65","CCNO","CFAP221","CFAP298","CFAP300","CFAP74","CFC1","DNAAF1","DNAAF11","DNAAF2","DNAAF3","DNAAF4","DNAAF5","DNAAF6","DNAH1","DNAH11","DNAH5","DNAH9","DNAI1","DNAI2","DNAJB13","DNAL1","DRC1","FOXJ1","GAS2L2","GAS8","GDF1","HYDIN","LRRC56","MCIDAS","NEK10","NME5","NME8","NODAL","ODAD1","ODAD2","ODAD3","ODAD4","OFD1","PKD1L1","RPGR","RSPH1","RSPH3","RSPH4A","RSPH9","SPAG1","SPEF2","STK36","TTC12","ZIC3","ZMYND10"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CONNECTION_OF_THE_CARDIAC_SEGMENTS":{"collection":"C5:HPO","systematicName":"M37883","pmid":"","exactSource":"HP:0011545","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011545","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CONNECTION_OF_THE_CARDIAC_SEGMENTS","geneSymbols":["ACVR2B","ALX1","ALX3","ARHGAP31","ARID1A","ARID1B","ARID2","ARVCF","ATP2B1","ATP6V1B2","BAZ1B","BCL7B","BCOR","BICRA","BMP2","BRAF","BRCA1","BRCA2","BRIP1","BUD23","CACNA1C","CASZ1","CCDC103","CCDC22","CCDC39","CCDC40","CCDC65","CCNO","CCNQ","CDK8","CDON","CFAP221","CFAP298","CFAP300","CFAP53","CFAP74","CFC1","CHD4","CHD7","CHRM3","CHUK","CIROP","CITED2","CLIP2","COMT","COX7B","CXCR2","CXCR4","DACT1","DDX11","DDX3X","DDX59","DGCR2","DGCR6","DGCR8","DISP1","DLL1","DLL4","DNAAF1","DNAAF11","DNAAF2","DNAAF3","DNAAF4","DNAAF5","DNAAF6","DNAH1","DNAH11","DNAH5","DNAH9","DNAI1","DNAI2","DNAJB13","DNAJC30","DNAL1","DOCK6","DPF2","DPYSL5","DRC1","EHMT1","EIF2AK3","EIF4H","ELN","EOGT","ERCC4","ESS2","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FGF8","FGFR1","FIG4","FKBP6","FKTN","FLT4","FOXC2","FOXF1","FOXH1","FOXJ1","GABRD","GAS1","GAS2L2","GAS8","GATA1","GATA4","GATA5","GATA6","GDF1","GJA1","GJA5","GJA8","GLI2","GNB2","GNPAT","GP1BB","GPC3","GPC4","GTF2I","GTF2IRD1","GTF2IRD2","HIBCH","HIRA","HLA-B","HLA-DRB1","HSPG2","HYDIN","INTU","IPO8","JAG1","JMJD1C","KCNAB2","KDR","LIMK1","LMNA","LRPPRC","LRRC56","LUZP1","MAD2L2","MAPKAPK5","MCIDAS","MCTP2","MED13L","MEGF8","METTL27","MKKS","MLXIPL","MMP14","MMP2","MMP21","MMP23B","MYRF","NADSYN1","NCF1","NEK10","NIPA1","NIPA2","NKX2-5","NKX2-6","NME5","NME8","NODAL","NOTCH1","NOTCH2","NR2F2","NXN","ODAD1","ODAD2","ODAD3","ODAD4","OFD1","OTUD5","P4HA2","PAH","PALB2","PDPN","PEX19","PHGDH","PIGL","PIGN","PKD1L1","PLCH1","PLD1","PLXND1","PQBP1","PRDM16","PRKCZ","PTCH1","PTPN22","PUF60","QRICH1","RAB23","RAD21","RAD51","RAD51C","RAI1","RBM10","RBM8A","RBPJ","RERE","RFC2","RFWD3","RNU4ATAC","ROBO1","ROR2","RPGR","RPL11","RPL5","RRAS2","RREB1","RSPH1","RSPH3","RSPH4A","RSPH9","SALL1","SALL4","SEC24C","SEMA3E","SF3B2","SF3B4","SH3PXD2B","SHH","SIX3","SKI","SKIC2","SKIC3","SLC35A2","SLC37A4","SLX4","SMAD2","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SMG9","SOX11","SOX4","SPAG1","SPECC1L","SPEF2","SPEN","SRCAP","STAG2","STK36","STRA6","STX1A","SUFU","TAB2","TBC1D24","TBL2","TBX1","TBX2","TDGF1","TGIF1","TMEM260","TMEM270","TMEM94","TRAF7","TTC12","TUBG1","UBE2A","UBE2T","UBE4B","UFD1","VAC14","VPS35L","VPS37D","WASHC5","WT1","XRCC2","ZEB2","ZFPM2","ZIC2","ZIC3","ZMPSTE24","ZMYND10","ZNF462"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_ATRIOVENTRICULAR_CONNECTION":{"collection":"C5:HPO","systematicName":"M37884","pmid":"","exactSource":"HP:0011546","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011546","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ATRIOVENTRICULAR_CONNECTION","geneSymbols":["CCNQ","CIROP","GJA1","GNB2","LRPPRC","MAPKAPK5","MCTP2","MMP21","NKX2-5","NODAL","NOTCH1","PLD1","PLXND1","SMARCA4","TRAF7","ZIC3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MITRAL_ATRESIA":{"collection":"C5:HPO","systematicName":"M46205","pmid":"","exactSource":"HP:0011560","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011560","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MITRAL_ATRESIA","geneSymbols":["CCNQ","GJA1","GNB2","LRPPRC","MCTP2","MMP21","NKX2-5","NOTCH1","PLXND1","SMARCA4","TRAF7","ZIC3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_COMMON_ATRIUM":{"collection":"C5:HPO","systematicName":"M37885","pmid":"","exactSource":"HP:0011565","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011565","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_COMMON_ATRIUM","geneSymbols":["ACVR2B","CFAP53","CIROP","EVC","EVC2","GDF1","MMP21","PRKACB","TTC26","WT1","ZIC3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_UNBALANCED_ATRIOVENTRICULAR_CANAL_DEFECT":{"collection":"C5:HPO","systematicName":"M46206","pmid":"","exactSource":"HP:0011579","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011579","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UNBALANCED_ATRIOVENTRICULAR_CANAL_DEFECT","geneSymbols":["CFAP53","DNAH9","PKD1L1","PLXND1","SMAD2","TTC26"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_BRANCHING_PATTERN_OF_THE_AORTIC_ARCH":{"collection":"C5:HPO","systematicName":"M37886","pmid":"","exactSource":"HP:0011587","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011587","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BRANCHING_PATTERN_OF_THE_AORTIC_ARCH","geneSymbols":["ACVR2B","CFAP53","CHD7","CIROP","CREBBP","CRELD1","DGCR2","DGCR6","DGCR8","DNAH1","DNAH9","EP300","ESS2","FLT4","GBA1","GDF1","IPO8","MMP21","NKX2-6","PIK3R2","PKD1L1","PLD1","PLXND1","SF3B2","STRA6","TBX1","TELO2","TMEM260","TTC26","WDR26","WT1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DOUBLE_AORTIC_ARCH":{"collection":"C5:HPO","systematicName":"M37887","pmid":"","exactSource":"HP:0011590","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011590","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DOUBLE_AORTIC_ARCH","geneSymbols":["CIROP","DGCR2","DGCR6","DGCR8","ESS2","FLT4","GBA1","TBX1","TELO2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CONGENITAL_MALFORMATION_OF_THE_GREAT_ARTERIES":{"collection":"C5:HPO","systematicName":"M37888","pmid":"","exactSource":"HP:0011603","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011603","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONGENITAL_MALFORMATION_OF_THE_GREAT_ARTERIES","geneSymbols":["ABCC9","ABCD4","ACSL4","ACTA2","ACTB","ACVR2B","ADAMTS10","ADAT3","AFF4","AGGF1","AGO2","ALB","ALDH1A2","ALG12","ALG8","ALX1","ALX3","AMER1","AMMECR1","ANK1","ANKS6","APC2","ARF1","ARFGEF2","ARHGAP31","ARID1A","ARID1B","ARID2","ARL6IP6","ARSL","ARVCF","ARX","ASCC1","ASXL2","ATP2B1","ATP6V1B2","B3GLCT","BAZ1B","BCL7B","BCOR","BCR","BICRA","BMP2","BMPR1A","BPTF","BRAF","BRCA1","BRCA2","BRIP1","BUD23","C2CD3","CACNA1C","CADM3","CALM3","CASZ1","CCDC103","CCDC22","CCDC39","CCDC40","CCDC47","CCDC65","CCNO","CD96","CDC42","CDC42BPB","CDK8","CDON","CEP120","CFAP221","CFAP298","CFAP300","CFAP53","CFAP74","CFC1","CHD4","CHD7","CHRM3","CHUK","CIROP","CITED2","CLIP2","COA6","COG6","COL18A1","COMT","COQ4","COX7B","CREBBP","CRKL","CSGALNACT1","CTCF","CTU2","CUX1","CXCR2","CXCR4","DACT1","DDX11","DDX3X","DDX59","DGCR2","DGCR6","DGCR8","DHCR24","DHCR7","DISP1","DLL1","DLL4","DMPK","DNAAF1","DNAAF11","DNAAF2","DNAAF3","DNAAF4","DNAAF5","DNAAF6","DNAH1","DNAH11","DNAH5","DNAH9","DNAI1","DNAI2","DNAJB13","DNAJC30","DNAL1","DNMT3A","DOCK6","DPF2","DPM1","DPYSL5","DRC1","DTNA","DVL3","DYNC2LI1","DYRK1A","ECE1","EED","EHMT1","EIF2AK3","EIF4H","ELN","EOGT","EP300","ERCC4","ERMARD","ESCO2","ESS2","EXT2","EZH2","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FBN1","FBN2","FGF10","FGF8","FGFR1","FGFR2","FGFR3","FIG4","FKBP14","FKBP6","FKTN","FLNA","FLT4","FOCAD","FOXC1","FOXC2","FOXE3","FOXF1","FOXH1","FOXJ1","FOXP2","FRA10AC1","FTO","FUT8","G6PC3","GABRD","GAS1","GAS2L2","GAS8","GATA1","GATA4","GATA5","GATA6","GDF1","GJA1","GJA5","GJA8","GLB1","GLI2","GLI3","GLYCTK","GNA11","GNB2","GNPAT","GP1BB","GPC3","GPC4","GTF2I","GTF2IRD1","GTF2IRD2","HACD1","HDAC4","HEY2","HIBCH","HIRA","HLA-B","HLA-DRB1","HPGD","HSPG2","HTRA2","HYDIN","HYMAI","IFT27","IGBP1","IGF2","INTU","IPO8","ITPR1","JAG1","JMJD1C","KANSL1","KAT6A","KAT6B","KAT8","KCNAB2","KCNE5","KCNH1","KCNJ8","KCNN3","KDR","KMT2A","KMT2B","KRAS","KYNU","LARS2","LIMK1","LMBRD1","LMNA","LMX1B","LOX","LRRC56","LUZP1","LZTR1","MAD2L2","MAF","MAP1B","MAP2K1","MAP3K7","MAPK1","MAPKAPK5","MASP1","MAT2A","MCIDAS","MCTP2","MED11","MED12","MED13L","MEGF8","METTL27","MFAP5","MGAT2","MID1","MKKS","MKS1","MLXIPL","MMP14","MMP2","MMP21","MMP23B","MRPS16","MYCN","MYH11","MYH7","MYLK","MYOCD","MYRF","NAA10","NAA20","NADSYN1","NCAPG2","NCF1","NEDD4L","NEK10","NEK8","NFIX","NIPA1","NIPA2","NKX2-5","NKX2-6","NME5","NME8","NODAL","NONO","NOTCH1","NOTCH2","NOTCH3","NPHP3","NR2F2","NSD1","NXN","OCLN","ODAD1","ODAD2","ODAD3","ODAD4","OFD1","OTUD5","P4HA2","PACS1","PAH","PAK2","PALB2","PCGF2","PCNT","PDPN","PEX1","PEX19","PHGDH","PIGA","PIGL","PIGN","PIGT","PKD1L1","PLAGL1","PLCB3","PLCH1","PLXND1","POGZ","POLR1A","POLR1B","POLR1C","POLR1D","PORCN","PPFIBP1","PPP1CB","PQBP1","PRDM13","PRDM16","PRDM6","PRIM1","PRKCZ","PRKG1","PSMD12","PTCH1","PTEN","PTPN11","PTPN22","PUF60","QRICH1","RAB23","RAC1","RAD21","RAD51","RAD51C","RAI1","RBM10","RBM8A","RBP4","RBPJ","RERE","RFC2","RFWD3","RIT1","RNU4ATAC","ROBO1","ROR2","RPGR","RPL11","RPL5","RPS26","RRAS2","RREB1","RSPH1","RSPH3","RSPH4A","RSPH9","RSPRY1","SALL1","SALL4","SAMD9","SEC24C","SEMA3E","SETD2","SF3B2","SF3B4","SH3PXD2B","SHANK3","SHH","SIK3","SIX3","SIX6","SKI","SKIC2","SKIC3","SLC25A24","SLC29A3","SLC35A2","SLC37A4","SLX4","SMAD2","SMAD3","SMAD4","SMARCA2","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SMC3","SMC5","SMG9","SNRPB","SNRPN","SNX14","SON","SOX11","SOX2","SOX4","SPAG1","SPECC1L","SPEF2","SPEN","SRCAP","SSR4","STAG2","STK36","STRA6","STX1A","STXBP1","SUCLG1","SUFU","SUPT16H","TAB2","TALDO1","TBC1D24","TBL2","TBX1","TBX2","TBX4","TBX5","TCOF1","TDGF1","TFAP2B","TGFB2","TGFB3","TGFBR1","TGFBR2","TGIF1","THOC6","THSD1","THSD4","TKT","TMCO1","TMEM260","TMEM270","TMEM94","TMTC3","TP63","TRAF7","TRIO","TRIP11","TRIP4","TRPV6","TRRAP","TSFM","TTC12","TTC26","TUBG1","TWIST1","UBE2A","UBE2T","UBE4B","UBR7","UFC1","UFD1","UMPS","USP18","USP9X","VAC14","VPS33A","VPS35L","VPS37D","WAC","WASHC5","WDPCP","WDR35","WDR37","WLS","WT1","XRCC2","YY1AP1","ZBTB7A","ZEB2","ZFPM2","ZIC2","ZIC3","ZMIZ1","ZMPSTE24","ZMYM2","ZMYND10","ZNF148","ZNF462","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INTERRUPTED_AORTIC_ARCH":{"collection":"C5:HPO","systematicName":"M37889","pmid":"","exactSource":"HP:0011611","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011611","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTERRUPTED_AORTIC_ARCH","geneSymbols":["CHD7","DGCR2","DGCR6","DGCR8","DIS3L2","ESS2","FGFR1","FOXF1","GATA6","KRAS","MMP21","MYCN","MYRF","NKX2-6","PLXND1","SEMA3E","SMG9","SUCLG1","TBX1","TMEM260"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_ABDOMINAL_SITUS":{"collection":"C5:HPO","systematicName":"M37890","pmid":"","exactSource":"HP:0011620","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011620","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_ABDOMINAL_SITUS","geneSymbols":["ACTG2","CCDC32","CFAP52","CFAP53","CFC1","CIROP","CPLX1","CTBP1","DNAAF5","FOXJ1","GDF1","LETM1","NELFA","NODAL","NSD2","ODAD4","PIGG","PKD1L1","ZIC3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MUSCULAR_VENTRICULAR_SEPTAL_DEFECT":{"collection":"C5:HPO","systematicName":"M41420","pmid":"","exactSource":"HP:0011623","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011623","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MUSCULAR_VENTRICULAR_SEPTAL_DEFECT","geneSymbols":["ALG12","ATP6V0A2","DNAJC19","DPH2","DPH5","DSG1","GATA6","GET3","GJA5","GJA8","GNB2","MAP3K7","MYBPC3","MYCN","NSD1","NUP188","PLD1","PPP2CA","PSMC1","RNU4ATAC","RPL3L","STAG2","SVBP","THOC6","WBP11"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CORONARY_ARTERY_ORIGIN":{"collection":"C5:HPO","systematicName":"M46207","pmid":"","exactSource":"HP:0011636","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011636","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CORONARY_ARTERY_ORIGIN","geneSymbols":["CIROP","LZTR1","NADSYN1","NKX2-6","PLXND1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PATENT_DUCTUS_ARTERIOSUS_AFTER_BIRTH_AT_TERM":{"collection":"C5:HPO","systematicName":"M47185","pmid":"","exactSource":"HP:0011648","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011648","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PATENT_DUCTUS_ARTERIOSUS_AFTER_BIRTH_AT_TERM","geneSymbols":["BPTF","CALM3","FOXP2","PSMD12","SON"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_TRICUSPID_ATRESIA":{"collection":"C5:HPO","systematicName":"M37891","pmid":"","exactSource":"HP:0011662","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011662","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TRICUSPID_ATRESIA","geneSymbols":["ARVCF","COMT","GP1BB","HIRA","JMJD1C","MYCN","PLD1","RREB1","SEC24C","TBX1","TMEM260","UFD1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RIGHT_VENTRICULAR_CARDIOMYOPATHY":{"collection":"C5:HPO","systematicName":"M37892","pmid":"","exactSource":"HP:0011663","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011663","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RIGHT_VENTRICULAR_CARDIOMYOPATHY","geneSymbols":["DSC2","DSG2","DSP","JUP","PKP2","TGFB3","TMEM43"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LEFT_VENTRICULAR_NONCOMPACTION_CARDIOMYOPATHY":{"collection":"C5:HPO","systematicName":"M43411","pmid":"","exactSource":"HP:0011664","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011664","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LEFT_VENTRICULAR_NONCOMPACTION_CARDIOMYOPATHY","geneSymbols":["CRLS1","DTNA","MIB1","MLYCD","MYL2","MYOCD","NONO","RYR2","TPM1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LEFT_SUPERIOR_VENA_CAVA_DRAINING_TO_CORONARY_SINUS":{"collection":"C5:HPO","systematicName":"M46208","pmid":"","exactSource":"HP:0011670","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011670","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LEFT_SUPERIOR_VENA_CAVA_DRAINING_TO_CORONARY_SINUS","geneSymbols":["CIROP","MED25","PRKACB","SLC29A3","ZIC3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INTERRUPTED_INFERIOR_VENA_CAVA_WITH_AZYGOUS_CONTINUATION":{"collection":"C5:HPO","systematicName":"M47186","pmid":"","exactSource":"HP:0011671","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011671","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTERRUPTED_INFERIOR_VENA_CAVA_WITH_AZYGOUS_CONTINUATION","geneSymbols":["ACVR2B","DNAH9","KDM3B","MMP21","SMOC1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PERIMEMBRANOUS_VENTRICULAR_SEPTAL_DEFECT":{"collection":"C5:HPO","systematicName":"M37893","pmid":"","exactSource":"HP:0011682","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011682","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERIMEMBRANOUS_VENTRICULAR_SEPTAL_DEFECT","geneSymbols":["ALG8","ATRX","BMP2","CALM3","CHD3","CITED2","COG7","CREBBP","EP300","FH","GATA6","GJA5","GJA8","MEIS2","MYH7","NAA10","NDUFB7","NDUFC2","NUP188","PUF60","RAD21","SEC31A","THOC6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_AV_NODAL_TACHYCARDIA":{"collection":"C5:HPO","systematicName":"M46209","pmid":"","exactSource":"HP:0011687","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011687","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AV_NODAL_TACHYCARDIA","geneSymbols":["CITED2","COX7B","HCCS","MT-CYB","NDUFB11","TTN"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CEREBELLAR_HEMORRHAGE":{"collection":"C5:HPO","systematicName":"M37894","pmid":"","exactSource":"HP:0011695","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011695","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CEREBELLAR_HEMORRHAGE","geneSymbols":["ACAD9","APP","IVD","MMUT","PCCA","PCCB"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_ELECTROPHYSIOLOGY_OF_SINOATRIAL_NODE_ORIGIN":{"collection":"C5:HPO","systematicName":"M37895","pmid":"","exactSource":"HP:0011702","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011702","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ELECTROPHYSIOLOGY_OF_SINOATRIAL_NODE_ORIGIN","geneSymbols":["ABCC6","ABCC9","AKAP9","ANK2","ARSB","BANF1","BVES","CACNA1C","CACNA2D1","CACNB2","CALM1","CALM2","CALM3","CASQ2","CAV3","DLST","DNMT3A","EPAS1","FH","GAA","GFM2","GNB2","GNB5","GPD1L","HCN4","HEPHL1","KCNA5","KCND3","KCNE1","KCNE2","KCNE3","KCNE5","KCNH2","KCNJ5","KCNJ8","KCNQ1","KIF1B","LMNA","MAX","MDH2","MYH6","MYH7","MYO1H","MYPN","NF1","NOS1AP","NPPA","PEX5","PKP2","PRKAG2","RANGRF","RET","RYR1","RYR2","SCN10A","SCN1B","SCN2B","SCN3B","SCN4B","SCN5A","SCNN1A","SDHA","SDHAF2","SDHB","SDHC","SDHD","SEMA3A","SGO1","SLC25A11","SLMAP","SNTA1","TBX5","TMEM127","TNNI3K","TNNT2","TPM2","TPM3","TRDN","TRPM4","VHL"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SINUS_TACHYCARDIA":{"collection":"C5:HPO","systematicName":"M37896","pmid":"","exactSource":"HP:0011703","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011703","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SINUS_TACHYCARDIA","geneSymbols":["ABCC6","ARSB","BANF1","DLST","DNMT3A","EPAS1","FH","GAA","KIF1B","MAX","MDH2","MYH7","MYPN","NF1","PEX5","RET","RYR1","SDHA","SDHAF2","SDHB","SDHC","SDHD","SLC25A11","TMEM127","TPM2","TPM3","VHL"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SICK_SINUS_SYNDROME":{"collection":"C5:HPO","systematicName":"M37897","pmid":"","exactSource":"HP:0011704","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011704","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SICK_SINUS_SYNDROME","geneSymbols":["ABCC9","AKAP9","CACNA1C","CACNA2D1","CACNB2","CASQ2","GNB5","GPD1L","HCN4","KCND3","KCNE3","KCNE5","KCNJ8","MYH6","NPPA","PKP2","RANGRF","RYR2","SCN10A","SCN1B","SCN2B","SCN3B","SCN5A","SCNN1A","SEMA3A","SGO1","SLMAP","TRDN","TRPM4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FIRST_DEGREE_ATRIOVENTRICULAR_BLOCK":{"collection":"C5:HPO","systematicName":"M37898","pmid":"","exactSource":"HP:0011705","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011705","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FIRST_DEGREE_ATRIOVENTRICULAR_BLOCK","geneSymbols":["ABCC9","ACTC1","AKAP9","CACNA1C","CACNA2D1","CACNB2","CITED2","CTNNA3","DMPK","DOHH","DTNA","EMD","GATA4","GATA6","GJA5","GPD1L","HCN4","KCND3","KCNE3","KCNE5","KCNJ8","KCNK3","LMNA","MYBPC3","MYH6","MYL4","MYPN","NKX2-5","PKP2","PSEN1","PSEN2","RANGRF","SCN10A","SCN1B","SCN2B","SCN3B","SCN5A","SCNN1A","SEMA3A","SLMAP","TBX20","TBX5","TLL1","TRPM4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SECOND_DEGREE_ATRIOVENTRICULAR_BLOCK":{"collection":"C5:HPO","systematicName":"M37899","pmid":"","exactSource":"HP:0011706","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011706","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SECOND_DEGREE_ATRIOVENTRICULAR_BLOCK","geneSymbols":["BVES","CACNA1D","CACNA1S","CALM1","CALM2","CALM3","CDC45","GABRA3","KCNJ18","LAMP2","LARS2","LMNA","NPPA","SCN5A","VEZF1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BUNDLE_BRANCH_BLOCK":{"collection":"C5:HPO","systematicName":"M37900","pmid":"","exactSource":"HP:0011710","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011710","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BUNDLE_BRANCH_BLOCK","geneSymbols":["ABCC9","ACTC1","AKAP9","ATP6V1A","ATP6V1E1","BANF1","BRAF","CACNA1C","CACNA2D1","CACNB2","CDH2","CITED2","CNBP","CTNNA3","DMPK","DSG2","DYSF","EXOSC5","FHL1","FLNC","GATA4","GATA6","GLA","GNAI2","GPC3","GPC4","GPD1L","GYG1","HCN4","JUP","KCND3","KCNE3","KCNE5","KCNJ8","KCNK3","LDB3","LEMD2","LMNA","LMOD2","MT-CYB","MYBPC3","MYH6","MYH7","MYL2","MYOZ2","NKX2-5","NPPA","PIGU","PKP2","PLEC","POLG2","POMT2","PPP1CB","PRKAG2","PSEN1","PSEN2","PTPN11","RAF1","RANGRF","RNASEH1","SCN10A","SCN1B","SCN2B","SCN3B","SCN5A","SCNN1A","SEMA3A","SLMAP","TBX20","TLL1","TNNC1","TNNI3K","TNNT2","TRPM4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LEFT_ANTERIOR_FASCICULAR_BLOCK":{"collection":"C5:HPO","systematicName":"M37901","pmid":"","exactSource":"HP:0011711","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011711","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LEFT_ANTERIOR_FASCICULAR_BLOCK","geneSymbols":["ACTC1","FLNC","LMNA","SCN5A","TNNC1","TNNI3K","TRPM4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RIGHT_BUNDLE_BRANCH_BLOCK":{"collection":"C5:HPO","systematicName":"M37902","pmid":"","exactSource":"HP:0011712","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011712","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RIGHT_BUNDLE_BRANCH_BLOCK","geneSymbols":["ABCC9","ACTC1","AKAP9","ATP6V1A","ATP6V1E1","BANF1","CACNA1C","CACNA2D1","CACNB2","CITED2","CNBP","DSG2","DYSF","EXOSC5","FHL1","FLNC","GNAI2","GPD1L","GYG1","HCN4","JUP","KCND3","KCNE3","KCNE5","KCNJ8","KCNK3","LEMD2","LMOD2","MT-CYB","MYBPC3","MYH6","MYH7","NPPA","PIGU","PKP2","PLEC","POMT2","PPP1CB","RANGRF","RNASEH1","SCN10A","SCN1B","SCN2B","SCN3B","SCN5A","SCNN1A","SEMA3A","SLMAP","TLL1","TNNC1","TNNI3K","TNNT2","TRPM4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LEFT_BUNDLE_BRANCH_BLOCK":{"collection":"C5:HPO","systematicName":"M37903","pmid":"","exactSource":"HP:0011713","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011713","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LEFT_BUNDLE_BRANCH_BLOCK","geneSymbols":["ACTC1","CDH2","CTNNA3","DSG2","FLNC","LDB3","LMNA","MYBPC3","MYL2","MYOZ2","POLG2","PRKAG2","PSEN1","PSEN2","SCN5A","TNNC1","TNNI3K","TRPM4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_JUNCTIONAL_ECTOPIC_TACHYCARDIA":{"collection":"C5:HPO","systematicName":"M47187","pmid":"","exactSource":"HP:0011716","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011716","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_JUNCTIONAL_ECTOPIC_TACHYCARDIA","geneSymbols":["CITED2","COX7B","HCCS","MT-CYB","NDUFB11"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_PULMONARY_VEINS":{"collection":"C5:HPO","systematicName":"M37904","pmid":"","exactSource":"HP:0011718","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011718","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_PULMONARY_VEINS","geneSymbols":["ACVR2B","AFF4","B3GLCT","BMPR2","CCDC103","CCDC39","CCDC40","CCDC65","CCNO","CDC42","CFAP221","CFAP298","CFAP300","CFAP53","CFAP74","CIROP","CITED2","CRTAP","DHCR24","DLL3","DNAAF1","DNAAF11","DNAAF2","DNAAF3","DNAAF4","DNAAF5","DNAAF6","DNAH1","DNAH11","DNAH5","DNAH9","DNAI1","DNAI2","DNAJB13","DNAL1","DRC1","EIF2AK4","FOXF1","FOXJ1","GAS2L2","GAS8","GATA1","GDF1","GPC3","GPC4","HES7","HYDIN","LFNG","LRRC56","MCIDAS","MED12","MESP2","MMP21","MYRF","NEK10","NIPA1","NIPA2","NME5","NME8","NODAL","ODAD1","ODAD2","ODAD3","ODAD4","OFD1","RIPPLY2","RPGR","RPS15A","RSPH1","RSPH3","RSPH4A","RSPH9","RSPO2","SFTPB","SMAD2","SMC1A","SPAG1","SPEF2","STK36","TBX5","TMEM260","TTC12","TUBG1","WT1","ZIC3","ZMYND10"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CONGENITAL_MALFORMATION_OF_THE_RIGHT_HEART":{"collection":"C5:HPO","systematicName":"M37905","pmid":"","exactSource":"HP:0011723","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011723","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONGENITAL_MALFORMATION_OF_THE_RIGHT_HEART","geneSymbols":["ATP6V1A","ATP6V1B2","BCOR","CCDC103","CCDC39","CCDC40","CCDC65","CCNO","CFAP221","CFAP298","CFAP300","CFAP53","CFAP74","CFC1","CHD7","CIROP","CTU2","DNAAF1","DNAAF11","DNAAF2","DNAAF3","DNAAF4","DNAAF5","DNAAF6","DNAH1","DNAH11","DNAH5","DNAH9","DNAI1","DNAI2","DNAJB13","DNAL1","DRC1","DVL3","EIF2AK3","FOXJ1","GAS2L2","GAS8","GATA1","GATA5","GATA6","GDF1","GNB2","HLA-B","HLA-DRB1","HYDIN","IPO8","LRRC56","MCIDAS","MCTP2","MMP14","MMP2","NADSYN1","NEK10","NKX2-5","NKX2-6","NME5","NME8","NODAL","NOTCH1","ODAD1","ODAD2","ODAD3","ODAD4","OFD1","OTUD5","P4HA2","PAH","PEX19","PIGL","PKD1L1","PLCH1","PLXND1","PTPN22","RAI1","RPGR","RSPH1","RSPH3","RSPH4A","RSPH9","SH3PXD2B","SMAD2","SPAG1","SPEF2","STAG2","STK36","TBC1D24","TBX1","TBX2","TMEM94","TRAF7","TTC12","UBE2A","WASHC5","ZIC3","ZMYND10"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PERONEAL_MUSCLE_WEAKNESS":{"collection":"C5:HPO","systematicName":"M45445","pmid":"","exactSource":"HP:0011727","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011727","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERONEAL_MUSCLE_WEAKNESS","geneSymbols":["FKTN","GDAP1","GYG1","LMNA","PMP22","REEP1","SARDH","TRPV4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_JOINT_MOBILITY":{"collection":"C5:HPO","systematicName":"M47188","pmid":"","exactSource":"HP:0011729","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011729","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_JOINT_MOBILITY","geneSymbols":["AARS1","ABCA12","ABCC6","ABCC8","ABCC9","ABCD1","ABHD12","ABL1","ACADM","ACADS","ACAN","ACER3","ACTA1","ACTB","ACTG1","ACTG2","ACVR1","ADAMTS10","ADAMTS17","ADAMTS2","ADAMTS3","ADAMTSL2","ADAMTSL4","ADAR","ADAT3","ADCY6","ADGRG1","ADGRG6","ADGRL1","ADGRV1","ADNP","AEBP1","AFF4","AGA","AGRN","AGTPBP1","AHDC1","AHSG","AIFM1","AIMP1","AIMP2","AKT1","ALAD","ALDH18A1","ALDH3A2","ALG1","ALG12","ALG13","ALG14","ALG2","ALG3","ALG8","ALG9","ALOX12B","ALOXE3","ALS2","ALX1","ALX3","AMER1","AMMECR1","ANAPC1","ANKH","ANKLE2","ANKRD11","ANKRD17","ANKRD55","ANO5","ANTXR1","ANTXR2","AP1G1","AP1S2","AP4B1","AP4E1","AP4M1","AP4S1","APC","APC2","ARCN1","ARF1","ARFGEF2","ARID1A","ARID1B","ARID2","ARPC4","ARSB","ARVCF","ARX","ASAH1","ASCC1","ASH1L","ASPA","ASPH","ASPN","ASXL1","ASXL2","ASXL3","ATAD1","ATN1","ATP11A","ATP2A1","ATP5F1D","ATP6AP1","ATP6V0A2","ATP6V1A","ATP6V1B2","ATP6V1E1","ATP7A","ATP7B","ATPAF2","ATR","ATRIP","ATRX","AUTS2","B3GALT6","B3GAT3","B3GLCT","B4GALT7","B9D2","BAG3","BANF1","BAZ1B","BCAS3","BCL11A","BCL7B","BCOR","BCR","BGN","BHLHA9","BICD2","BICRA","BIN1","BLTP1","BMP1","BMP6","BMPER","BMPR1A","BMPR1B","BPNT2","BRAF","BRAT1","BRD4","BRF1","BRPF1","BUD23","C12orf4","C18orf32","C19orf12","C1R","C1S","CACNA1A","CACNA1C","CACNA1E","CADM3","CAMK2A","CAMLG","CAMTA1","CANT1","CAPN3","CARS1","CASZ1","CAV1","CAVIN1","CBL","CBS","CCBE1","CCDC22","CCDC32","CCDC47","CCDC8","CCN2","CCN6","CCNQ","CCR6","CD244","CD247","CD96","CDC42","CDC42BPB","CDC45","CDC6","CDH11","CDH3","CDK13","CDK5","CDON","CDT1","CENPE","CENPJ","CEP104","CEP152","CEP55","CFL2","CHAMP1","CHAT","CHD3","CHD4","CHD7","CHMP1A","CHN1","CHRNA1","CHRNB1","CHRND","CHRNE","CHRNG","CHST11","CHST14","CHST3","CHSY1","CIITA","CISD2","CKAP2L","CLCF1","CLCN3","CLDN11","CLIC2","CLIP2","CLPB","CNTN1","CNTNAP1","COASY","COG1","COG5","COL11A1","COL11A2","COL12A1","COL13A1","COL17A1","COL18A1","COL1A1","COL1A2","COL25A1","COL27A1","COL2A1","COL3A1","COL5A1","COL5A2","COL6A1","COL6A2","COL6A3","COL7A1","COL9A1","COL9A2","COL9A3","COLEC10","COLEC11","COLQ","COMP","COMT","COQ7","COX11","CPLX1","CPT2","CREB3L1","CREBBP","CRKL","CRLF1","CRPPA","CRTAP","CSGALNACT1","CSNK2A1","CTBP1","CTCF","CTDP1","CTNNB1","CTNND2","CTSK","CUL4B","CUL7","CYP26B1","DAG1","DARS2","DBH","DCC","DCHS1","DCPS","DCX","DDB1","DDHD2","DDR2","DDRGK1","DDX3X","DEAF1","DEGS1","DHCR24","DHODH","DHX16","DHX30","DISP1","DKK1","DLG4","DLK1","DLL1","DLL3","DMD","DNA2","DNAJB6","DNAJC21","DNAJC30","DNAL4","DNM2","DNMT3A","DOK7","DONSON","DPAGT1","DPF2","DPH1","DPH2","DPM1","DPM2","DPYD","DPYSL5","DSE","DSP","DST","DUSP6","DVL1","DVL3","DYM","DYNC2LI1","DYRK1A","DYSF","EBP","ECE1","ECEL1","EED","EFEMP2","EFNB1","EIF4A3","EIF4H","EIF5A","ELN","ELOVL4","EMD","EMG1","EMILIN1","EN1","ENPP1","EP300","EPB41L1","EPCAM","EPG5","ERBB3","ERCC1","ERCC2","ERCC3","ERCC4","ERCC5","ERCC6","ERCC8","ERGIC1","ERLIN1","ERLIN2","ERMARD","ESCO2","EVC","EVC2","EXOC2","EXOC6B","EXOC7","EXOC8","EXOSC3","EXOSC5","EXOSC8","EXOSC9","EXT1","EXT2","EXTL3","EZH2","F8","FAM111B","FAM20C","FAN1","FANCC","FANCI","FARSA","FARSB","FAT4","FBLN1","FBLN5","FBN1","FBN2","FBXL3","FBXO28","FBXW11","FCSK","FDFT1","FERMT1","FGD1","FGF16","FGF17","FGF8","FGF9","FGFR1","FGFR2","FGFR3","FGFRL1","FHL1","FIBP","FIG4","FITM2","FKBP10","FKBP14","FKBP6","FKRP","FKTN","FLII","FLNA","FLNB","FLNC","FLRT1","FLVCR1","FLVCR2","FMR1","FN1","FOCAD","FOXH1","FOXP1","FUCA1","FUS","FUT8","FUZ","FZD2","GABRA1","GABRD","GABRG2","GAD1","GALNS","GAN","GARS1","GAS1","GATA1","GATAD2B","GBA1","GBE1","GCH1","GCK","GDAP1","GDF11","GDF3","GDF5","GDF6","GFM2","GFPT1","GJA1","GJA5","GJA8","GJB1","GJB2","GJB6","GLB1","GLDN","GLE1","GLI1","GLI2","GLI3","GLRA1","GLRB","GLUL","GMNN","GMPPB","GNAI3","GNAS","GNB1","GNB2","GNE","GNPAT","GNPTAB","GNPTG","GNRH1","GNRHR","GNS","GOLGA2","GON7","GORAB","GP1BB","GPC3","GPC4","GPC6","GPHN","GPKOW","GPT2","GRIA3","GRIA4","GRID2","GRIN1","GSC","GTF2E2","GTF2H5","GTF2I","GTF2IRD1","GTF2IRD2","GTPBP2","GUSB","GZF1","H1-4","H3-3A","H3-3B","H4C5","H4C9","HACD1","HBA1","HBA2","HCN1","HDAC4","HDAC8","HEPHL1","HERC1","HES7","HEXB","HFE","HGD","HGSNAT","HIKESHI","HINT1","HIRA","HK1","HLA-B","HLA-DRB1","HNF1B","HNRNPA1","HNRNPDL","HNRNPH1","HNRNPH2","HNRNPK","HOXA11","HOXA13","HOXD13","HPDL","HPGD","HRAS","HS2ST1","HS6ST1","HSPB1","HSPD1","HSPG2","HUWE1","HYAL1","HYMAI","IARS1","IARS2","IBA57","IDH1","IDH2","IDS","IDUA","IFIH1","IFITM5","IFT122","IFT43","IFT52","IGF2","IGHMBP2","IHH","IKBKG","IL10","IL1RAPL1","IL1RN","IL2RA","IL2RB","IL6ST","IMPDH2","INF2","INPPL1","INS","IPO8","IQSEC2","IRF5","IRF6","ITCH","ITGA7","ITGB4","ITGB6","JAG2","JARID2","JMJD1C","JUP","KANSL1","KAT6B","KBTBD13","KCNAB2","KCNH1","KCNJ11","KCNJ2","KCNJ5","KCNJ6","KCNK9","KCNMA1","KCNN3","KDELR2","KDM1A","KDM3B","KDM5B","KDM5C","KDM6A","KDM6B","KIAA0319L","KIAA0753","KIDINS220","KIF14","KIF15","KIF1A","KIF21A","KIF22","KIF26A","KIF5A","KIF5C","KISS1","KISS1R","KLC2","KLHL40","KLHL41","KLHL7","KLHL9","KMT2A","KMT2B","KMT2D","KRAS","KRT1","KRT14","KRT16","KRT83","KRT9","KY","L1CAM","LAGE3","LAMA2","LAMA5","LAMB2","LAMB3","LARGE1","LBR","LEMD3","LETM1","LFNG","LGI4","LIAS","LIFR","LIG4","LIMK1","LMBR1","LMBRD2","LMNA","LMNB1","LMNB2","LMOD3","LMX1B","LONP1","LOX","LPIN2","LRP4","LRP5","LSM11","LSS","LTBP1","LTBP2","LTBP3","LTBP4","LUZP1","LZTR1","MACROH2A1","MAF","MAFB","MAGEL2","MAMLD1","MAN1B1","MAN2B1","MAP1B","MAP2K2","MAP3K20","MAP3K7","MAPK1","MARS1","MASP1","MATN3","MBTPS2","MCTP2","MECOM","MECP2","MECR","MED11","MED12","MED13L","MED25","MEFV","MEG3","MEGF10","MEGF8","MEOX1","MESP2","MET","METTL27","MFN2","MICU1","MKKS","MKS1","MLH1","MLH3","MLXIPL","MMP1","MMP13","MMP2","MMP23B","MMP9","MORC2","MPDU1","MPLKIP","MRAS","MRE11","MRPS34","MSH2","MSH6","MSL3","MSTO1","MT-TE","MTM1","MTMR14","MTRFR","MTX2","MUSK","MVK","MYBPC1","MYH2","MYH3","MYH7","MYH8","MYL1","MYL11","MYL2","MYMK","MYO18B","MYO9A","MYOD1","MYOT","MYPN","NAA10","NACC1","NADSYN1","NAE1","NAGLU","NALCN","NANS","NARS1","NCAPG2","NCF1","NDE1","NDRG1","NDUFAF4","NDUFS3","NEB","NEDD4L","NEFL","NEK9","NEPRO","NF1","NFASC","NFATC2","NFIX","NFKBIL1","NGLY1","NHLH2","NIPA1","NIPBL","NKAP","NKX3-2","NLRP1","NLRP3","NOD2","NODAL","NOG","NONO","NOTCH2","NOTCH3","NPPA","NPR2","NPR3","NR4A2","NRAS","NRCAM","NSD1","NSD2","NSDHL","NSMF","NSRP1","NSUN2","NT5C2","NTN1","NUP107","NUP133","NUP188","NUP85","NUP88","NXN","OBSL1","OCA2","OCRL","OFD1","OPA1","OPA3","ORAI1","ORC1","ORC4","ORC6","OSGEP","OTUD5","OTUD6B","OTX2","P3H1","P4HA2","P4HB","P4HTM","PAK2","PAX2","PAX3","PAX7","PCDH19","PCGF2","PCNA","PCNT","PCYT1A","PDE4D","PDGFRB","PDHA1","PDPN","PDX1","PDXK","PERP","PEX1","PEX2","PEX5","PEX6","PEX7","PGM2L1","PGM3","PHACTR1","PHEX","PHF6","PHGDH","PHIP","PI4KA","PIEZO2","PIGA","PIGG","PIGL","PIGN","PIGP","PIGS","PIGT","PIGU","PIGY","PIK3C2A","PIK3CA","PIK3R1","PIK3R2","PIP5K1C","PITX1","PKDCC","PLA2G6","PLAA","PLAGL1","PLCH1","PLEC","PLEKHG5","PLK4","PLOD1","PLOD2","PLOD3","PLP1","PLXND1","PMM2","PMP22","PMS1","PMS2","PNKD","PNPT1","POGZ","POLD1","POLR1D","POLR3A","POLR3GL","POMK","POMT1","POMT2","POP1","POR","PORCN","PPP1CB","PPP1R12A","PPP1R15B","PPP1R21","PPP2R1A","PPP2R3C","PPP2R5D","PPP3CA","PPT1","PQBP1","PRDM16","PRDM5","PRG4","PRKACA","PRKACB","PRKCZ","PROK2","PROKR2","PRR12","PRRT2","PRUNE1","PSAT1","PSMB4","PSMB8","PSMB9","PSMG2","PSTPIP1","PTCH1","PTCH2","PTDSS1","PTEN","PTF1A","PTH1R","PTHLH","PTPN11","PTPN2","PTPN22","PTRH2","PUF60","PUS1","PYCR1","PYCR2","PYROXD1","RAB18","RAB23","RAB33B","RAB3GAP1","RAB3GAP2","RAC1","RAD21","RAD51","RAF1","RAI1","RAPSN","RARS2","RASA2","RBBP8","RBM28","RBM8A","RECQL","RECQL4","REEP1","RERE","RET","REV3L","RFC1","RFC2","RFT1","RFX7","RIC1","RIN2","RIPK4","RIPPLY2","RIT1","RMRP","RNASEH2A","RNASEH2B","RNASEH2C","RNF113A","RNF125","RNF13","RNU12","RNU4ATAC","RNU7-1","ROR2","RPL10","RPL26","RPS20","RPS6KA3","RRAS","RRAS2","RREB1","RSPO2","RSPRY1","RTL1","RTTN","RUSC2","RYR1","RYR3","SALL1","SALL4","SAMHD1","SATB1","SATB2","SCARF2","SCN1A","SCN1B","SCN2A","SCN4A","SCN5A","SCN9A","SCUBE3","SCYL2","SDHA","SDHAF1","SDHB","SDHD","SEC23A","SEC24C","SEC24D","SEC31A","SELENON","SEMA4A","SEMA5A","SEPSECS","SERPINF1","SERPINH1","SET","SETBP1","SETD1A","SETD2","SF3B2","SF3B4","SFRP4","SGCA","SGCG","SGSH","SH3PXD2B","SHANK3","SHH","SHOC2","SHOX","SHPK","SIGMAR1","SIK3","SIL1","SIN3A","SIN3B","SIX3","SIX6","SKI","SLC10A7","SLC12A6","SLC16A2","SLC18A3","SLC1A2","SLC1A4","SLC22A4","SLC25A1","SLC25A19","SLC25A4","SLC25A46","SLC26A2","SLC29A3","SLC2A10","SLC35A2","SLC35A3","SLC35B2","SLC39A13","SLC39A14","SLC39A8","SLC5A7","SLC6A5","SLC6A8","SLC6A9","SLC9A6","SLCO2A1","SLURP1","SMAD3","SMAD4","SMAD6","SMARCA2","SMARCA4","SMARCAD1","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SMC1A","SMC3","SMG9","SMOC1","SMPD4","SMS","SNAP25","SNRPB","SNX14","SOBP","SON","SOS1","SOS2","SOX10","SOX11","SOX2","SOX4","SOX5","SOX9","SP7","SPARC","SPART","SPEG","SPEN","SPG11","SPRED2","SPRTN","SPRY4","SPTBN1","SPTBN4","SPTLC1","SRCAP","SRD5A3","SRPX2","STAC3","STAG1","STAG2","STAT3","STAT4","STIL","STIM1","STING1","STRADA","STX1A","STX1B","STXBP1","SUCLG1","SUFU","SUMF1","SUZ12","SVIL","SYNE1","SYNE2","SYT1","SYT2","TAB2","TAC3","TACR3","TAF1","TANC2","TAOK1","TAPT1","TARS1","TBC1D20","TBC1D2B","TBCD","TBL1XR1","TBL2","TBR1","TBX1","TBX15","TBX2","TBX22","TBX3","TBX4","TBX5","TBX6","TCF12","TCTN3","TDGF1","TDO2","TELO2","TENT5A","TET3","TFAP2A","TFAP2B","TFE3","TGDS","TGFB1","TGFB2","TGFB3","TGFBR1","TGFBR2","TGIF1","TGM1","THOC2","THOC6","TLK2","TMCO1","TMEM107","TMEM165","TMEM218","TMEM222","TMEM270","TMEM43","TMEM70","TMTC3","TNFRSF11B","TNFRSF1A","TNNC2","TNNI2","TNNT1","TNNT3","TNPO3","TNRC6B","TNXB","TOGARAM1","TONSL","TOR1A","TOR1AIP1","TP53RK","TP63","TPM2","TPM3","TPRKB","TRAIP","TRAK1","TRAPPC2","TREM2","TREX1","TRIM2","TRIM8","TRIP11","TRIP13","TRIP4","TRMT10A","TRPS1","TRPV3","TRPV4","TSEN54","TTC26","TTN","TUBA1A","TUBB3","TWIST1","TWIST2","TYROBP","UBA1","UBE3A","UBE4B","UBR1","UCHL1","UFC1","UFD1","UNC80","UPF3B","UROS","USB1","USP7","USP9X","VAMP1","VANGL1","VAPB","VARS1","VCP","VIPAS39","VMA21","VPS11","VPS13B","VPS33A","VPS33B","VPS37A","VPS37D","VPS53","VRK1","VWA1","WASF1","WBP11","WDR11","WDR19","WDR26","WDR35","WDR4","WDR45B","WDR73","WFS1","WIPI2","WNT1","WNT5A","WNT7A","WRN","XYLT1","XYLT2","YARS1","YRDC","YWHAG","YY1","ZBTB20","ZBTB42","ZC4H2","ZDHHC9","ZEB2","ZIC1","ZIC2","ZIC3","ZMIZ1","ZMPSTE24","ZMYM2","ZNF335","ZNF341","ZNF407","ZNF469","ZNHIT3","ZPR1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CENTRAL_SENSORY_FUNCTION":{"collection":"C5:HPO","systematicName":"M37907","pmid":"","exactSource":"HP:0011730","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011730","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CENTRAL_SENSORY_FUNCTION","geneSymbols":["ABCD1","AKT1","ATP6AP2","BAP1","NF2","PDGFB","PIK3CA","PRNP","SMARCB1","SMARCE1","SMO","SUFU","TERT","TRAF7"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_ADRENAL_PHYSIOLOGY":{"collection":"C5:HPO","systematicName":"M37909","pmid":"","exactSource":"HP:0011733","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011733","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_ADRENAL_PHYSIOLOGY","geneSymbols":["AAAS","ABCD1","AIP","AIRE","AKT1","ARMC5","ATRX","BAP1","BCOR","BRAF","BSND","CACNA1D","CACNA1H","CBX2","CDH23","CDKN1A","CDKN1B","CDKN2A","CDKN2B","CDKN2C","CLCN2","CLCNKA","CLCNKB","CTNNB1","CUL3","CYP11A1","CYP11B1","CYP11B2","CYP17A1","DHX37","DMRT3","GATA4","GATB","GATC","GK","GLI3","GMPPA","GNAS","HBB","HERC2","HSD11B2","HSD17B4","HSD3B2","HTR1A","IARS2","INSR","KANSL1","KCNJ1","KCNJ10","KCNJ11","KCNJ16","KCNJ2","KCNJ5","KLHL3","LHX4","LIPA","MAGEL2","MAP3K1","MC2R","MCM4","MEN1","MKRN3","MRAP","MRPS25","MRPS7","NDN","NDUFAF5","NF2","NFKB2","NFS1","NNT","NPAP1","NR0B1","NR3C1","NR3C2","NR5A1","OCA2","OCRL","PCSK1","PDE11A","PDE8B","PDGFB","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PIK3CA","POMC","POR","PRKACA","PRKAR1A","PROP1","PWAR1","PWRN1","QRSL1","RBM28","RET","ROBO1","SAA1","SAMD9","SCNN1A","SCNN1B","SCNN1G","SERPINA6","SGPL1","SLC12A1","SLC12A3","SLC26A3","SMARCB1","SMARCE1","SMO","SNORD115-1","SNORD116-1","SNRPN","SOX9","SRY","STAR","STEAP3","SUFU","TBCK","TBX19","TCTN3","TERT","TP53","TRAF7","TRAPPC11","TXNRD2","USP48","USP8","VAMP7","WNK1","WNK4","WT1","WWOX","ZFPM2","ZNRF3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CENTRAL_ADRENAL_INSUFFICIENCY":{"collection":"C5:HPO","systematicName":"M37910","pmid":"","exactSource":"HP:0011734","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011734","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CENTRAL_ADRENAL_INSUFFICIENCY","geneSymbols":["AAAS","AIP","BRAF","CDH23","CTNNB1","GLI3","IARS2","MAGEL2","MEN1","NDN","NFKB2","OCA2","PCSK1","POMC","RBM28","SNRPN","TBCK","TBX19"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ADRENOCORTICOTROPIN_DEFICIENT_ADRENAL_INSUFFICIENCY":{"collection":"C5:HPO","systematicName":"M37911","pmid":"","exactSource":"HP:0011735","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011735","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ADRENOCORTICOTROPIN_DEFICIENT_ADRENAL_INSUFFICIENCY","geneSymbols":["AIP","CDH23","MEN1","NFKB2","RBM28","TBX19"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PRIMARY_HYPERALDOSTERONISM":{"collection":"C5:HPO","systematicName":"M37912","pmid":"","exactSource":"HP:0011736","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011736","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PRIMARY_HYPERALDOSTERONISM","geneSymbols":["CACNA1D","CLCN2","CLCNKB","CYP11B1","CYP11B2","KCNJ5","SCNN1A","SCNN1B","SCNN1G","SLC12A3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DEXAMETHASONE_SUPPRESSIBLE_PRIMARY_HYPERALDOSTERONISM":{"collection":"C5:HPO","systematicName":"M47189","pmid":"","exactSource":"HP:0011739","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011739","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEXAMETHASONE_SUPPRESSIBLE_PRIMARY_HYPERALDOSTERONISM","geneSymbols":["CACNA1D","CLCN2","CYP11B1","CYP11B2","KCNJ5"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_GLUCOCORTOCOID_INSENSITIVE_PRIMARY_HYPERALDOSTERONISM":{"collection":"C5:HPO","systematicName":"M43412","pmid":"","exactSource":"HP:0011740","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011740","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GLUCOCORTOCOID_INSENSITIVE_PRIMARY_HYPERALDOSTERONISM","geneSymbols":["CLCN2","KCNJ5","SCNN1A","SCNN1B","SCNN1G"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ADRENOCORTICOTROPIC_HORMONE_DEFICIENCY":{"collection":"C5:HPO","systematicName":"M37913","pmid":"","exactSource":"HP:0011748","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011748","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ADRENOCORTICOTROPIC_HORMONE_DEFICIENCY","geneSymbols":["AIP","ARNT2","CDH23","CDKN2A","CTNNB1","GLI3","LHX3","MEN1","POMC","POU3F4","PRKAR1A","TBX19","TERT","TP53","ZNRF3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ADRENOCORTICOTROPIC_HORMONE_EXCESS":{"collection":"C5:HPO","systematicName":"M37914","pmid":"","exactSource":"HP:0011749","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011749","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ADRENOCORTICOTROPIC_HORMONE_EXCESS","geneSymbols":["ABCD1","CYP11A1","CYP17A1","HSD3B2","MCM4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_POSTERIOR_PITUITARY_MORPHOGENESIS":{"collection":"C5:HPO","systematicName":"M37915","pmid":"","exactSource":"HP:0011751","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011751","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_POSTERIOR_PITUITARY_MORPHOGENESIS","geneSymbols":["ADGRG1","AKT1","BAP1","CDON","DYRK1A","ERF","FOXA2","GLI2","GPR161","HESX1","KIAA0753","LHX3","LHX4","MTHFR","NF2","OTX2","PDGFB","PI4KA","PIK3CA","POU1F1","PROKR2","PROP1","PUF60","ROBO1","SMARCB1","SMARCE1","SMO","SOX3","SRPX2","SUFU","TBX3","TERT","TRAF7","VANGL2","WDR11"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_POSTERIOR_PITUITARY_DYSGENESIS":{"collection":"C5:HPO","systematicName":"M37916","pmid":"","exactSource":"HP:0011753","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011753","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POSTERIOR_PITUITARY_DYSGENESIS","geneSymbols":["ADGRG1","CDON","DYRK1A","ERF","FOXA2","GLI2","GPR161","HESX1","KIAA0753","LHX3","LHX4","MTHFR","OTX2","PI4KA","POU1F1","PROKR2","PROP1","PUF60","ROBO1","SOX3","SRPX2","TBX3","VANGL2","WDR11"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PITUITARY_GROWTH_HORMONE_CELL_ADENOMA":{"collection":"C5:HPO","systematicName":"M37917","pmid":"","exactSource":"HP:0011760","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011760","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PITUITARY_GROWTH_HORMONE_CELL_ADENOMA","geneSymbols":["AIP","ALG5","ALG9","BICC1","CDKN1A","CDKN1B","CDKN2B","CDKN2C","DNAJB11","GANAB","GPR101","IFT140","MEN1","PDE11A","PKD1","PKD2","PRKAR1A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PITUITARY_NULL_CELL_ADENOMA":{"collection":"C5:HPO","systematicName":"M47190","pmid":"","exactSource":"HP:0011761","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011761","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PITUITARY_NULL_CELL_ADENOMA","geneSymbols":["CDKN1A","CDKN1B","CDKN2B","CDKN2C","MEN1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_PARATHYROID_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M37918","pmid":"","exactSource":"HP:0011766","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011766","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_PARATHYROID_MORPHOLOGY","geneSymbols":["CASR","CDC73","CDKN1A","CDKN1B","CDKN2B","CDKN2C","CHD7","CLCNKB","FLCN","GATA3","GCM2","IDH1","IDH2","IFNG","KL","MEN1","NF1","RET","SLC12A3","TBX1","TSC1","TSC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_THYROID_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M37920","pmid":"","exactSource":"HP:0011772","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011772","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_THYROID_MORPHOLOGY","geneSymbols":["ABCD1","ADA","ADA2","ADAMTSL1","AKT1","ALMS1","APC","ARID1A","ARID1B","ARID2","ATP7A","BMPR1A","C1S","CACNA1S","CASP10","CCBE1","CDC73","CDH23","CDKN1A","CDKN1B","CDKN2A","CDKN2B","CDKN2C","CHD7","CHEK2","CLCNKB","CTLA4","DCLRE1C","DICER1","DNAH1","DPF2","DUOX2","DUOXA2","ECE1","EDN3","EDNRB","EPCAM","ERBB2","ERBB3","EYA1","FAN1","FAS","FASLG","FLCN","FOXD3","FOXE1","FOXI1","FOXP3","GDNF","GLI3","GNAS","GNB2","GPR35","GREM1","HABP2","HEPACAM","HESX1","HLA-DQA1","HLA-DQB1","HRAS","IDH1","IDH2","IL18BP","IL2RA","IL2RG","IL6ST","IL7R","IRS4","ITCH","IYD","JAG1","KAT6B","KCNJ10","KCNJ18","KEAP1","KLLN","KMT2D","KRAS","LHX3","LHX4","LIFR","LIG4","LMNA","LRBA","MAD1L1","MDM2","MEN1","MID1","MINPP1","MLH1","MLH3","MMP14","MMP2","MSH2","MSH3","MSH6","MST1","NDUFB11","NFKB2","NKX2-1","NKX2-5","NLRP1","NRAS","NRTN","NSDHL","PAX8","PDE11A","PI4KA","PIK3CA","PLCG2","PMS1","PMS2","POLG","POLG2","POLR1B","POLR1C","POLR1D","POU1F1","PRKAR1A","PRKCD","PROP1","PTEN","RAG1","RAG2","RASGRP1","RCBTB1","RET","RMRP","RPS20","RRM2B","SASH1","SDHB","SDHC","SDHD","SEC23B","SEMA3C","SEMA3D","SEMA4A","SEMA4D","SIX1","SLC12A3","SLC25A4","SLC26A4","SLC37A4","SLC5A5","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SMO","SOCS1","SOX11","SOX4","SREBF1","SRGAP1","STAT1","STAT5B","SUGCT","TBX2","TCF4","TCOF1","TG","TGFBR2","THRB","TOM1","TP53","TPO","TRHR","TSHB","TSHR","TTC7A","TWNK","USF3","WRN","ZFAT"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_THYROTOXICOSIS_WITH_DIFFUSE_GOITER":{"collection":"C5:HPO","systematicName":"M37921","pmid":"","exactSource":"HP:0011784","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011784","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THYROTOXICOSIS_WITH_DIFFUSE_GOITER","geneSymbols":["CACNA1S","CLCNKB","GABRA3","KCNJ18","SLC12A3","TSHR"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CENTRAL_HYPOTHYROIDISM":{"collection":"C5:HPO","systematicName":"M37922","pmid":"","exactSource":"HP:0011787","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011787","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CENTRAL_HYPOTHYROIDISM","geneSymbols":["AIP","AKT1","ARNT2","BAP1","BRAF","CDH23","CDON","CPE","CTNNB1","DISP1","DLL1","DMXL2","EIF2AK3","FGF8","FGFR1","FOXA2","FOXH1","GAS1","GLI2","GLI3","HESX1","HID1","INSR","IRS4","KATNIP","LEP","LEPR","LHX3","LHX4","MAGEL2","MEN1","NDN","NEXMIF","NF2","NIN","NODAL","OCA2","OTX2","PCSK1","PDGFB","PIK3CA","PLCH1","POMC","POU1F1","POU3F4","PROP1","PTCH1","RBM28","ROBO1","RPL10","SETBP1","SHH","SIM1","SIX3","SMARCB1","SMARCE1","SMC1A","SMO","SNRPN","SOX3","STAG2","STIL","SUFU","TBL1X","TDGF1","TERT","TGIF1","TMEM67","TRAF7","TRH","TRHR","TSHB","ZIC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NEOPLASM_BY_HISTOLOGY":{"collection":"C5:HPO","systematicName":"M37923","pmid":"","exactSource":"HP:0011792","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011792","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_BY_HISTOLOGY","geneSymbols":["AAGAB","ABCA5","ACD","ACTB","ACVR1","ADA2","AKT1","ALX4","ANAPC1","ANGPT2","ANTXR2","APC","APC2","ARID1A","ARID1B","ARID2","ASCL1","ASPSCR1","ASXL1","ATP6V1B2","AURKA","AXIN2","BAP1","BARD1","BAX","BCL10","BDNF","BLM","BMPER","BMPR1A","BMPR1B","BRAF","BRCA1","BRCA2","BRD4","BRIP1","BUB1","BUB1B","BUB3","C1S","CASP10","CASZ1","CCND1","CDC73","CDK4","CDKN1A","CDKN1B","CDKN1C","CDKN2A","CDKN2B","CDKN2C","CEP57","CHEK2","COL14A1","COL17A1","COL1A1","COL4A5","COL4A6","COL7A1","CPLANE1","CREB1","CTNNB1","CTSC","CXCR4","CYSLTR2","DCC","DDB2","DHCR24","DHX37","DICER1","DIS3L2","DKC1","DLC1","DLK1","DLST","DMRT3","DPF2","DYNC2LI1","DZIP1L","EDN3","ELMO2","EP300","EPCAM","EPHB4","ERBB2","ERCC2","ERCC3","ERCC4","ERCC5","ERCC6","EWSR1","EXT1","EXT2","FAM149B1","FAM20A","FAM20C","FAN1","FAS","FASLG","FGF3","FGFR1","FGFR3","FH","FIBP","FLCN","FLI1","FLNA","FLT4","FOXC2","FOXO1","GABRD","GATA1","GATA4","GCDH","GDF5","GDNF","GJC2","GLI3","GNA11","GNAQ","GNAS","GPC3","GPC4","GREM1","H19","HDAC4","HEATR3","HRAS","HSPG2","IDH1","IDH2","IFNG","IGF2","IL6ST","KANSL1","KCNAB2","KCNH1","KCNMA1","KCNN3","KCNQ1","KCNQ1OT1","KEAP1","KIAA0753","KIF1B","KIF7","KIT","KLLN","KRAS","KRT1","KRT10","KRT17","LBX1","LMNA","LRP1","LUZP1","MAD1L1","MAN2C1","MAP2K1","MAP3K1","MAPRE2","MAX","MBD4","MBTPS2","MC1R","MCC","MDH2","MDM2","MEG3","MEN1","MGMT","MITF","MLH1","MLH3","MMP1","MMP23B","MNX1","MRE11","MSH2","MSH3","MSH6","MTAP","MUTYH","MVK","MYO1H","NBN","NEK9","NF1","NF2","NLRP1","NOTCH3","NR0B1","NR4A3","NR5A1","NRAS","NSD1","NUTM1","OCA2","OFD1","PALB2","PALLD","PAX3","PAX6","PAX7","PDE11A","PDE6D","PDGFB","PDGFRA","PDGFRB","PDGFRL","PDPN","PERP","PHF21A","PHOX2B","PIEZO1","PIK3CA","PKHD1","PLA2G2A","PLCD1","PMS1","PMS2","POLE","POLH","POT1","POU6F2","PRDM16","PRKAR1A","PRKCD","PRKCZ","PRLR","PTCH1","PTEN","PTH1R","PTPN11","PTPN12","PTPRJ","RABL3","RAD50","RAD51","RAD51C","RAD51D","RAD54B","RAF1","RASGRP1","RB1","RECQL4","RELA","RERE","REST","RET","RNF43","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS7","RSPO1","RSPRY1","RTL1","RUNX1","SDHA","SDHAF2","SDHB","SDHC","SDHD","SEC23B","SEMA4A","SETBP1","SETD2","SF3B1","SIX6","SKI","SKIC2","SKIC3","SLC22A18","SLC25A11","SLC37A4","SLC6A17","SMAD4","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SMO","SOS1","SOX11","SOX2","SOX4","SOX9","SPEN","SPRED1","SPTBN1","SQSTM1","SRC","SRY","SSX2","STK11","SUFU","TAF15","TCTN3","TERF2IP","TERT","TFAP2A","TGFBR2","TIAM1","TLR2","TMEM127","TMEM216","TOPORS","TP53","TRAF7","TRIM28","TRIM37","TRIP13","TRPV3","TSC1","TSC2","TSR2","TUBB","TYMS","TYR","UBE4B","USF3","VAMP7","VHL","VPS16","WRN","WT1","WWOX","XPA","XPC","YY1","ZFPM2","ZFTA"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_FACIAL_SOFT_TISSUE":{"collection":"C5:HPO","systematicName":"M37925","pmid":"","exactSource":"HP:0011799","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011799","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_FACIAL_SOFT_TISSUE","geneSymbols":["ABCA1","ABCD1","ACADS","ACTA1","ACTB","ACTG1","ACTN2","ACTN4","ADA2","ADAMTS2","ADCY5","ADCY6","ADGRG1","ADNP","ADSS1","AGRN","AIP","AK9","AKT1","ALB","ALG14","ALG2","ALS2","AMER1","AMPD2","ANAPC1","ANGPT1","ANKFY1","ANKH","ANLN","ANO5","ANTXR1","ANXA11","AP4B1","AP4E1","AP4M1","AP4S1","APOL1","ARHGAP24","ARHGDIA","ASAH1","ASXL1","ATP13A2","ATP1A2","ATP1A3","ATP6AP2","ATXN1","BAG3","BAP1","BAZ1B","BCL7B","BICRA","BIN1","BMS1","BTNL2","BUD23","CACNA1A","CACNA1S","CADM3","CAMK2G","CAMTA1","CAPN3","CC2D1A","CCBE1","CCDC22","CD2AP","CD96","CDH11","CFL2","CHAMP1","CHAT","CHCHD10","CHD7","CHKB","CHRNA1","CHRNB1","CHRND","CHRNE","CHRNG","CIDEC","CLCF1","CLCN7","CLIP2","CLTC","CNBP","CNTNAP1","COL12A1","COL13A1","COL1A1","COL25A1","COL4A1","COL4A3","COL5A1","COL5A2","COL6A1","COL6A2","COL6A3","COLQ","COQ8B","COX6A2","CRB2","CRLF1","CRPPA","CRYAB","CTLA4","DAAM2","DBH","DCTN1","DDHD2","DES","DHCR7","DHX30","DLL4","DMPK","DNAJB6","DNAJC13","DNAJC30","DNAJC6","DNM1L","DNM2","DNMT3B","DOK7","DPAGT1","DPYSL5","DSE","DUOX2","DUOXA2","DUX4","DUX4L1","DYNC1H1","EBF3","EIF4G1","EIF4H","ELN","EMP2","EPHB4","ERCC6","ERCC8","ESCO2","EYA1","F12","FBXO7","FKBP6","FKRP","FKTN","FLNC","FOXG1","FRG1","FRMD4A","FTL","GAA","GAN","GAPVD1","GBA1","GDAP1","GFPT1","GIGYF2","GIPC1","GJA1","GJC2","GLE1","GLI3","GMPPB","GNA14","GNAQ","GNE","GNPTAB","GPC3","GPC4","GPR101","GRIA3","GSN","GTF2I","GTF2IRD1","GTF2IRD2","HACD1","HAVCR2","HERC1","HESX1","HK1","HLA-DPA1","HLA-DPB1","HLA-DRB1","HOXB1","HRAS","HS3ST6","IFNG","IGSF3","INF2","IRF2BPL","IRF6","ITGA7","ITGB4","IYD","JAG2","JAM2","KAT6A","KBTBD13","KCNJ6","KCNK4","KCNK9","KCTD1","KDM4B","KDM5C","KIF1A","KIF1B","KLHL40","KLHL41","KLLN","KMT2D","KNG1","KNSTRN","KPTN","KRAS","KRT17","KY","LAMA2","LAMB2","LARGE1","LGI3","LHX3","LHX4","LIMK1","LMNA","LMNB2","LMOD3","LPIN1","LRIF1","LRP12","LRP4","LRP5","LRRK2","LTBP4","MAGI2","MAN2B1","MAP3K20","MB","MECP2","MED12L","MEGF10","MEN1","METTL27","MGAT2","MGME1","MLH1","MLXIPL","MPZ","MSH2","MSH6","MSTO1","MSX1","MT-CO1","MT-CO3","MT-TE","MT-TN","MT-TS1","MTM1","MTMR14","MTMR2","MTRFR","MUSK","MYD88","MYH7","MYL1","MYL2","MYMK","MYMX","MYO1E","MYO9A","MYOF","MYOT","MYPN","NARS2","NCF1","NEB","NECTIN1","NEFL","NEU1","NF2","NFU1","NGLY1","NLRP1","NOD2","NOTCH2NLC","NPHS1","NPHS2","NRAS","NUP107","NUP133","NUP160","NUP205","NUP37","NUP85","NUP93","NUTM2B-AS1","OBSCN","OGDHL","OPA1","OSTM1","PABPN1","PAX2","PAX7","PCGF2","PDGFB","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PI4KA","PIEZO1","PIK3CA","PIK3CD","PLA2G6","PLAA","PLCD1","PLCE1","PLEC","PLG","PLXND1","PNPT1","PODXL","POGZ","POLG","POLG2","POLR3A","POMP","POMT1","POMT2","POR","POU1F1","POU3F3","POU4F1","PPARG","PPP1CB","PPP2R1A","PPP2R2B","PPP2R5D","PRDX3","PRKCG","PROP1","PRRT2","PRTN3","PSMB4","PSMB8","PSMB9","PSPH","PTDSS1","PTEN","PTPN22","PTPRO","PTRH2","PUF60","PURA","RAB11B","RAPSN","RASA1","RBM8A","RECQL4","REV3L","RFC2","RILPL1","RIN2","RNASEH1","RRM2B","RYR1","RYR3","SALL4","SATB2","SBF2","SCN1A","SCN4A","SCO2","SDHB","SDHC","SDHD","SEC23B","SELENON","SEMA3E","SERPING1","SET","SETBP1","SF3B2","SGCD","SH3TC2","SHANK3","SHMT2","SIX1","SIX5","SLC12A6","SLC18A2","SLC18A3","SLC19A3","SLC1A3","SLC25A1","SLC25A21","SLC25A4","SLC25A42","SLC26A2","SLC29A3","SLC30A10","SLC30A9","SLC35C1","SLC39A14","SLC52A2","SLC52A3","SLC5A5","SLC5A7","SLC6A3","SMARCB1","SMARCE1","SMCHD1","SMO","SNAP25","SNCA","SNX10","SNX14","SOST","SOX18","SPEG","SPR","SPTBN1","SPTBN2","SPTBN4","SQSTM1","SRD5A3","SRPX2","STAC3","STAG2","STRADA","STX1A","SUCLA2","SUFU","SUMF1","SUPT16H","SURF1","SYNE1","SYNJ1","SYT2","TBC1D8B","TBL2","TCIRG1","TECPR2","TERT","TET3","TFAP2A","TG","TGFB1","TGFBI","TK2","TMEM270","TNFRSF1A","TNFSF11","TNNC2","TNNT1","TOR1A","TP63","TPM2","TPM3","TPO","TPP2","TRAF7","TREX1","TRIM32","TRPC6","TRPM3","TRPV4","TSC1","TSC2","TSHB","TTN","TUBB3","TUBB6","TWNK","TXNL4A","UBA1","UBA2","UBE2T","UNC80","USF3","VAMP1","VCP","VPS13B","VPS35","VPS35L","VPS37D","WASHC5","WT1","XPNPEP2","XRCC2","XYLT2","YARS1","YME1L1","YY1","ZBTB11","ZC4H2","ZFHX4","ZMIZ1","ZMPSTE24","ZNHIT3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MIDFACE_RETRUSION":{"collection":"C5:HPO","systematicName":"M37926","pmid":"","exactSource":"HP:0011800","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011800","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MIDFACE_RETRUSION","geneSymbols":["ACAN","ACP5","ACTB","ADNP","AGL","AIFM1","ALG12","AMMECR1","AMPD2","ANKRD17","ANTXR1","ATP6V0A2","ATRX","B3GALT6","B3GAT3","B4GALT7","BANF1","BCL11A","BICD2","BICRA","BMP2","BMP4","BPTF","BRF1","BUB1B","CAMK2B","CANT1","CASZ1","CBL","CCDC47","CCDC8","CDC42","CDH11","CDK19","CDKN1C","CEP120","CHD1","CHD3","CHST3","CILK1","CLCN3","CLCN4","COG1","COL11A1","COL11A2","COL18A1","COL1A1","COL27A1","COL2A1","COL9A2","COL9A3","COX15","COX7B","CPLX1","CRTAP","CSGALNACT1","CTCF","CTSK","CUL7","DCHS1","DDB1","DDR2","DEAF1","DHX37","DLX4","DPH5","DSE","DVL1","DVL3","EBP","EFTUD2","EHMT1","ELN","EPB41L1","ERF","FAM20C","FAM50A","FAT4","FBN1","FGFR1","FGFR2","FGFR3","FIBP","FLII","FLNA","FLNB","FOXC1","FOXG1","FZD2","GABRD","GDF11","GHR","GLI2","GMNN","GNPAT","GPC4","GRIA4","GRIN1","H19","H3-3A","H3-3B","HCCS","HDAC4","HECW2","HEPACAM","HESX1","HNRNPH2","HOXB1","HSPA9","HSPG2","IARS2","IFT52","IFT81","IGF2","IL11RA","IQSEC2","IREB2","ITCH","JARID2","KAT6A","KCNAB2","KCNQ1","KCNQ1OT1","KIF15","KIF1A","KIF22","KMT2C","KMT2D","KRAS","LBR","LEMD2","LHX3","LHX4","LIFR","LINS1","LMNA","LRP2","LRPPRC","LRRC32","LTBP4","LUZP1","LZTR1","MAD1L1","MAF","MAN2B1","MBD5","MECP2","MED13L","MEGF8","MESD","MGP","MIPEP","MIR140","MLXIPL","MMP23B","MN1","MRAS","MRPS14","MTOR","MYSM1","NDUFB11","NECTIN1","NEPRO","NF1","NFIX","NGLY1","NKAP","NRAS","NSMCE3","NXN","OBSL1","OSGEP","OTUD5","P4HB","PAK2","PDE4D","PDGFRB","PDPN","PEX1","PIGV","PIK3R1","PITX2","PKD2","PLP1","POGZ","POLR1A","POLR1B","POLR1C","POLR1D","POMGNT1","POP1","POR","POU1F1","PPP2R5D","PRDM16","PRKACA","PRKAR1A","PRKCZ","PROP1","PRR12","PSMC1","PSMD12","PTCH1","PTEN","PTH1R","PTPN11","PTRH2","PYCR1","RAB23","RAB3GAP1","RAB3GAP2","RAC3","RAF1","RAI1","RASA2","RERE","RFWD3","RIT1","RNF13","RNU12","ROR2","RPS28","RRAS","RRAS2","RUNX2","RYR1","SATB1","SATB2","SEC23A","SEC24D","SERPINH1","SETBP1","SF3B4","SH2B1","SHH","SIX3","SKI","SLC25A24","SLC26A2","SLC35D1","SLC6A8","SLC9A7","SMAD2","SMAD4","SMC1A","SMCHD1","SON","SOS1","SOS2","SOST","SOX11","SOX9","SP7","SPEN","SPRED2","STAC3","TBL1XR1","TBX1","TCF12","TCF20","TCOF1","TGFB3","TLK2","TMCO1","TMEM165","TONSL","TRIO","TRPM3","TSEN54","TSR2","TUBGCP2","TWIST1","UBE2A","UBE4B","UFC1","USB1","WAC","WASF1","WDR35","WDR73","WNT5A","YME1L1","ZBTB20","ZIC1","ZMIZ1","ZNF407","ZNHIT3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HAMARTOMA_OF_TONGUE":{"collection":"C5:HPO","systematicName":"M37927","pmid":"","exactSource":"HP:0011802","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011802","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HAMARTOMA_OF_TONGUE","geneSymbols":["C2CD3","CEP120","CPLANE1","DDX59","DYNC2H1","EDN1","FAM149B1","GNAI3","INTU","KIAA0586","KIAA0753","KIF7","MAN2C1","NEK1","OFD1","PDE6D","PLCB4","TCTN3","TMEM107","TMEM216","TMEM231","TOPORS","WDPCP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BIFID_NOSE":{"collection":"C5:HPO","systematicName":"M37928","pmid":"","exactSource":"HP:0011803","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011803","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BIFID_NOSE","geneSymbols":["ALX1","ALX3","ALX4","FREM1","HYLS1","NF1","NSMF","NUAK2","PTCH1","TBX4","TFE3","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_TYPE_1_MUSCLE_FIBER_ATROPHY":{"collection":"C5:HPO","systematicName":"M37929","pmid":"","exactSource":"HP:0011807","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011807","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TYPE_1_MUSCLE_FIBER_ATROPHY","geneSymbols":["ACTA1","ALG14","EMD","FHL1","HACD1","HNRNPK","ITGA7","LMNA","MAP3K20","MYL2","RYR1","SELENON","SPTBN4","SYNE1","SYNE2","TMEM43","TPM2","TPM3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DECREASED_PATELLAR_REFLEX":{"collection":"C5:HPO","systematicName":"M37930","pmid":"","exactSource":"HP:0011808","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011808","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_PATELLAR_REFLEX","geneSymbols":["ATP9A","BICD2","DYNC1H1","FBLN5","HADHA","HADHB","LDB3","MYH14","REEP1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INCREASED_CEREBRAL_LIPOFUSCIN":{"collection":"C5:HPO","systematicName":"M37931","pmid":"","exactSource":"HP:0011813","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011813","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_CEREBRAL_LIPOFUSCIN","geneSymbols":["CLN3","CLN5","CLN6","CLN8","CTSD","DNAJC5","PPT1","PSAP","TARS2","TPP1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CEPHALOCELE":{"collection":"C5:HPO","systematicName":"M47191","pmid":"","exactSource":"HP:0011815","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011815","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CEPHALOCELE","geneSymbols":["AHI1","AIPL1","ALX1","ALX3","ALX4","ARHGAP31","ARL13B","ARL3","ARMC9","B4GAT1","B9D1","B9D2","C2CD3","CBY1","CC2D2A","CDON","CEP104","CEP120","CEP290","CEP41","COL18A1","CPLANE1","CRB1","CRPPA","CRX","CSPP1","CYP26B1","DISP1","DLL1","DLL4","DOCK6","EOGT","ESCO2","FGF8","FGFR1","FGFR3","FKRP","FKTN","FLNA","FLNB","FOXH1","FRAS1","FREM2","GAS1","GDF6","GLI2","GMPPB","GRIP1","GUCY2D","HOXD13","HSPG2","HYLS1","IFT140","IFT74","IMPDH1","INPP5E","IQCB1","KATNIP","KCNJ13","KIAA0586","KIAA0753","LAMB1","LARGE1","LCA5","LRAT","MKS1","MSX2","NMNAT1","NODAL","NOTCH1","NPHP1","OFD1","PAK2","PCYT1A","PDE6D","PIBF1","POLR1B","POLR1C","POLR1D","POMGNT1","POMK","POMT1","POMT2","PTCH1","RBPJ","RD3","RDH12","RPE65","RPGRIP1","RPGRIP1L","SF3B2","SHH","SIX3","SMO","SPATA7","STIL","SUFU","TCOF1","TCTN1","TCTN2","TCTN3","TDGF1","TGIF1","TMEM107","TMEM138","TMEM216","TMEM218","TMEM231","TMEM237","TMEM67","TMTC3","TOGARAM1","TUBB4B","TULP1","TXNDC15","USP45","VSX1","ZIC2","ZNF423","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BASAL_ENCEPHALOCELE":{"collection":"C5:HPO","systematicName":"M41421","pmid":"","exactSource":"HP:0011817","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011817","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BASAL_ENCEPHALOCELE","geneSymbols":["ALX3","CDON","DISP1","DLL1","FGF8","FOXH1","GAS1","GLI2","NODAL","PTCH1","SHH","SIX3","STIL","TDGF1","TGIF1","ZIC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SUBMUCOUS_CLEFT_SOFT_PALATE":{"collection":"C5:HPO","systematicName":"M37932","pmid":"","exactSource":"HP:0011819","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011819","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUBMUCOUS_CLEFT_SOFT_PALATE","geneSymbols":["GRHL3","IPO8","KCNK9","NEK1","NONO","POLR3A","SON","STAC3","TP63","UBB"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_FACIAL_SKELETON_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M37933","pmid":"","exactSource":"HP:0011821","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011821","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FACIAL_SKELETON_MORPHOLOGY","geneSymbols":["AARS1","ABAT","ABCD1","ABCD4","ABL1","ACAN","ACP5","ACSL4","ACTA1","ACTA2","ACTB","ACTG1","ACTG2","ADA","ADA2","ADAMTS10","ADAMTS2","ADAMTS3","ADAMTSL1","ADAMTSL2","ADAMTSL4","ADAT3","ADGRG1","ADGRG6","AEBP1","AFF3","AFF4","AGA","AGL","AGPAT2","AGRN","AHDC1","AIFM1","AIMP2","AIP","AKT1","ALDH1A2","ALG1","ALG11","ALG12","ALG13","ALG14","ALG9","ALMS1","ALX1","ALX3","ALX4","AMER1","AMMECR1","ANAPC7","ANK1","ANKH","ANKLE2","ANKRD11","ANKRD55","ANO5","ANTXR1","AP1S2","AP2M1","AP3D1","AP4M1","APC","APC2","ARCN1","ARHGAP29","ARHGEF38","ARID1B","ARID2","ARL6IP6","ARNT2","ARSL","ARVCF","ARX","ASNS","ASPH","ASXL1","ASXL2","ASXL3","ATAD3A","ATG7","ATM","ATP10A","ATP6AP2","ATP6V0A1","ATP6V0A2","ATP6V1A","ATP6V1B2","ATP6V1E1","ATP7A","ATPAF2","ATR","ATRIP","ATRX","AUTS2","B3GALT6","B3GAT3","B3GLCT","B4GALT7","B9D1","B9D2","BANF1","BAZ1B","BBS7","BCAP31","BCL11A","BCL11B","BCL7B","BCR","BDNF","BGN","BICD2","BICRA","BIN1","BLM","BLNK","BLTP1","BMP2","BMP4","BMPER","BNC2","BPNT2","BPTF","BRAF","BRAT1","BRCA1","BRCA2","BRCC3","BRD4","BRF1","BRIP1","BSCL2","BTK","BUB1","BUB1B","BUB3","BUD23","C12orf57","C1R","C1S","C2CD3","C4B","CA2","CACNA1C","CACNA1G","CAMTA1","CANT1","CARS1","CASK","CAV1","CAVIN1","CBFB","CBL","CC2D2A","CCBE1","CCDC103","CCDC22","CCDC32","CCDC39","CCDC40","CCDC65","CCDC88A","CCNK","CCNO","CD19","CD247","CD79A","CD79B","CD96","CDC42BPB","CDC45","CDC6","CDC73","CDCA7","CDH1","CDH11","CDK5","CDKN1C","CDT1","CEACAM3","CEACAM6","CENPE","CENPF","CENPJ","CEP120","CEP135","CEP152","CEP290","CEP55","CEP57","CFAP221","CFAP298","CFAP300","CFAP45","CFAP52","CFAP74","CFI","CFL2","CFTR","CHAT","CHD5","CHD7","CHD8","CHN1","CHRNA1","CHRND","CHRNE","CHRNG","CHST14","CHST3","CHSY1","CHUK","CIITA","CILK1","CLCA4","CLCF1","CLCN3","CLCN4","CLCN7","CLIC2","CLIP2","CLPB","CLTCL1","CNOT1","CNOT2","CNOT3","CNTN1","CNTNAP1","COASY","COBLL1","COG1","COG4","COG5","COG6","COG7","COG8","COL11A1","COL11A2","COL12A1","COL13A1","COL1A1","COL1A2","COL25A1","COL2A1","COL3A1","COL5A1","COL5A2","COL6A1","COL6A2","COL6A3","COL9A1","COL9A2","COL9A3","COLEC11","COLQ","COMT","COX7B","CPE","CPLANE1","CPLX1","CR2","CREB3L1","CREBBP","CRIPT","CRKL","CRLF1","CRPPA","CRTAP","CSF1R","CSGALNACT1","CSNK2A1","CSNK2B","CSPP1","CTBP1","CTC1","CTDP1","CTLA4","CTNND2","CTSK","CTU2","CUL4B","CUL7","CWC27","CXCR4","CYBA","CYBB","CYBC1","D2HGDH","DCHS1","DCTN4","DDB1","DDB2","DDR2","DDX3X","DEAF1","DGCR2","DGCR6","DGCR8","DHCR24","DHCR7","DHODH","DHX30","DICER1","DIS3L2","DKC1","DLG1","DLG3","DLK1","DLX4","DNA2","DNAAF1","DNAAF11","DNAAF2","DNAAF3","DNAAF4","DNAAF5","DNAAF6","DNAH1","DNAH11","DNAH5","DNAH7","DNAH9","DNAI1","DNAI2","DNAJB13","DNAJC21","DNAJC30","DNAL1","DNMT3A","DNMT3B","DOCK3","DOCK6","DOCK8","DOK7","DONSON","DPAGT1","DPH1","DPH2","DPH5","DPM1","DPM2","DPYD","DPYSL5","DRC1","DSE","DSTYK","DVL1","DVL3","DYM","DYNC2H1","DYNC2I1","DYNC2I2","DYRK1A","DZIP1L","EBP","ECEL1","EDA","EDEM3","EDN1","EDNRA","EED","EFEMP2","EFL1","EFTUD2","EHMT1","EIF4A3","EIF4H","EIF5A","ELANE","ELN","EMC1","EMG1","EP300","EPG5","ERBB3","ERCC1","ERCC2","ERCC3","ERCC4","ERCC5","ERCC6","ERCC8","ERF","ERGIC1","ERMARD","ESCO2","ESS2","EXOC7","EXOSC1","EXOSC5","EXT1","EXT2","EXTL3","EYA1","EZH2","FAM111A","FAM149B1","FAM20C","FAM50A","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FARS2","FAT4","FBN1","FBN2","FBXL3","FBXO28","FBXO31","FBXW11","FCGR2A","FCGR3A","FDFT1","FGD1","FGF10","FGF3","FGFR1","FGFR2","FGFR3","FGFRL1","FHL1","FIG4","FKBP6","FKRP","FKTN","FLCN","FLII","FLNA","FLNB","FLVCR2","FMR1","FOCAD","FOS","FOXC1","FOXC2","FOXE1","FOXE3","FOXF1","FOXG1","FOXJ1","FOXP1","FOXP2","FRA10AC1","FRMPD4","FTO","FUCA1","FUT8","FZD2","GABRA3","GAD1","GALNS","GAS2L2","GAS8","GATA1","GATA4","GATAD2B","GBA1","GCLC","GDF11","GEMIN4","GFPT1","GHR","GJA1","GJA5","GJA8","GLB1","GLDN","GLE1","GLI2","GLI3","GMNN","GNA11","GNAI3","GNAS","GNB2","GNPAT","GNPTAB","GOLGA2","GON7","GORAB","GP1BB","GPC3","GPC4","GPC6","GPKOW","GPR101","GRB10","GRHL3","GRIA3","GRIA4","GRIP1","GSC","GSTM3","GTF2E2","GTF2H5","GTF2I","GTF2IRD1","GTF2IRD2","H3-3A","H3-3B","H4C3","H4C5","H4C9","HACD1","HBA1","HBA2","HBB","HCCS","HDAC4","HDAC6","HDAC8","HEATR3","HECTD4","HELLS","HERC1","HERC2","HEY2","HFE","HIRA","HLA-DPA1","HLA-DPB1","HMGA2","HMOX1","HMX1","HNF1B","HNRNPH1","HNRNPH2","HNRNPK","HNRNPR","HNRNPU","HOXB1","HPDL","HRAS","HS2ST1","HS6ST2","HSD17B4","HSPG2","HUWE1","HYDIN","HYLS1","HYMAI","HYOU1","IARS2","IBA57","ICOS","IDH1","IDS","IDUA","IFIH1","IFT140","IFT43","IFT80","IGBP1","IGF1","IGF1R","IGF2","IGFALS","IGHG2","IGHM","IGKC","IGLL1","IGSF3","IKBKB","IKBKG","IL11RA","IL17RA","IL1RAPL1","IL21R","IL2RA","IL2RB","IL2RG","IL6ST","INPPL1","INSR","INTS1","INTU","IPO8","IQSEC2","IRF2BP2","IRF6","IRF8","IRX5","ITGA7","ITGA8","IVNS1ABP","JARID2","JMJD1C","KAT5","KAT6A","KAT6B","KATNB1","KBTBD13","KCNC2","KCNE5","KCNH1","KCNJ2","KCNJ5","KCNJ6","KCNK4","KCNK9","KCNMA1","KCNN3","KCNN4","KCTD1","KDM4B","KDM5C","KDM6A","KDM6B","KIAA0586","KIAA0753","KIDINS220","KIF11","KIF14","KIF15","KIF1A","KIF21A","KIF22","KIF26A","KIF7","KIFBP","KL","KLHL41","KMT2A","KMT2B","KMT2D","KNL1","KPTN","KRAS","LAGE3","LAMA2","LAMB2","LARGE1","LARP7","LAS1L","LBR","LEMD2","LEMD3","LETM1","LGI4","LIFR","LIG4","LIMK1","LMBRD2","LMNA","LMOD3","LOX","LRBA","LRP2","LRP4","LRP5","LRPPRC","LRRC32","LRRC56","LRRC8A","LTBP3","LTBP4","LZTR1","MAD1L1","MAD2L2","MADD","MAF","MAFB","MAGEL2","MAGT1","MAMLD1","MAN1B1","MAN2B1","MAN2C1","MAP2K1","MAP2K2","MAP3K20","MAP3K7","MAPK1","MAPK8IP3","MAPKAPK5","MAPRE2","MARS1","MAT2A","MBD5","MCIDAS","MCM5","MCTP2","MDM4","MECP2","MED12","MED13L","MED25","MEG3","MEGF8","MEN1","MESD","METTL27","MFAP5","MGAT2","MGP","MIA3","MID1","MIF","MINPP1","MIPEP","MITF","MKS1","MLXIPL","MMP2","MOGS","MPDU1","MPLKIP","MRAS","MRPS22","MSL3","MSTO1","MSX1","MTHFR","MTM1","MTX2","MUSK","MYBPC1","MYCN","MYH11","MYH3","MYH7","MYH8","MYL11","MYL2","MYLK","MYMK","MYMX","MYO18B","MYO9A","MYOD1","MYPN","NAA10","NALCN","NARS1","NBAS","NBN","NCAPG2","NCF1","NCF2","NCF4","NDE1","NDP","NDST1","NDUFB11","NEB","NECTIN1","NEDD4L","NEK1","NEK10","NEK9","NELFA","NEPRO","NEXMIF","NF1","NFASC","NFIX","NFKB1","NFKB2","NFKBIA","NGF","NHP2","NHS","NIPBL","NME5","NME8","NONO","NOP10","NOTCH2","NOTCH3","NPM1","NPR3","NR2F1","NRAS","NRCAM","NSD1","NSD2","NSDHL","NSMCE2","NSRP1","NSUN2","NTRK1","NUDT2","NUP107","NUP133","NUP188","NUP85","NUP88","NXN","OBSL1","OCA2","OCLN","OCRL","ODAD1","ODAD2","ODAD3","ODAD4","ODC1","OFD1","OPHN1","ORC1","ORC4","ORC6","OSGEP","OSTM1","OTUD5","OTUD6B","OTX2","P4HB","P4HTM","PAH","PAK2","PALB2","PARN","PAX1","PAX3","PAX6","PAX7","PCDHGC4","PCGF2","PCNT","PDE11A","PDE4D","PDE6D","PDGFRA","PDGFRB","PDZD8","PEPD","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PEX7","PGAP2","PGAP3","PGM1","PGM3","PHF21A","PHGDH","PHIP","PI4KA","PIEZO1","PIEZO2","PIGA","PIGB","PIGF","PIGG","PIGL","PIGN","PIGO","PIGQ","PIGT","PIGU","PIGV","PIGW","PIGY","PIK3C2A","PIK3CA","PIK3CD","PIK3R1","PITX2","PKDCC","PKHD1","PLA2G6","PLAA","PLAG1","PLAGL1","PLCB4","PLEKHM1","PLK4","PLOD3","PLVAP","PLXND1","PMM2","PNKD","PNP","POC1A","POGZ","POLA1","POLD1","POLE","POLR1A","POLR1B","POLR1C","POLR1D","POLR3A","POMGNT1","POMT1","POMT2","POR","POU1F1","PPARG","PPP1R12A","PPP1R15B","PPP3CA","PQBP1","PRDM13","PREPL","PRIM1","PRKACA","PRKACB","PRKAR1A","PRKCD","PRKG1","PRKG2","PRMT7","PRORP","PRR12","PRRT2","PRRX1","PRTN3","PRUNE1","PSAT1","PSMB4","PSMB8","PSMB9","PSMC1","PSMC3","PSMD12","PSPH","PTCH1","PTCH2","PTDSS1","PTEN","PTH1R","PTPN11","PTPN2","PTPN22","PUF60","PURA","PUS1","PUS7","PYCR1","PYCR2","PYROXD1","RAB18","RAB23","RAB33B","RAB3GAP1","RAB3GAP2","RAC2","RAC3","RAD21","RAD51","RAD51C","RAF1","RAI1","RAPSN","RARB","RASA2","RB1","RBBP8","RBM10","RBM8A","RDH11","RECQL","RECQL4","RELN","RERE","REV3L","RFC2","RFT1","RFWD3","RFX5","RFX7","RFXANK","RFXAP","RHOA","RHOBTB2","RIC1","RIN2","RIPK4","RIT1","RLIM","RMRP","RNF113A","RNF125","RNF168","RNU12","RNU4ATAC","ROBO1","ROR2","RPGR","RPGRIP1","RPGRIP1L","RPL10","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS6KA3","RPS7","RRAS","RRAS2","RREB1","RSPH1","RSPH3","RSPH4A","RSPH9","RSPO2","RSPRY1","RSRC1","RTEL1","RTL1","RTTN","RUNX2","RUSC2","RYR1","RYR3","SALL4","SASH3","SATB2","SBDS","SC5D","SCARF2","SCN4A","SCN9A","SCNM1","SCYL2","SEC23A","SEC24C","SEC24D","SEC31A","SELENON","SEMA3E","SEMA5A","SERPINA1","SERPINH1","SETBP1","SETD2","SETD5","SF3B2","SF3B4","SFRP4","SH2B1","SH3BP2","SH3KBP1","SH3PXD2B","SHANK3","SHH","SHOX","SIM1","SIN3A","SIX1","SIX2","SIX3","SIX5","SKI","SLC10A7","SLC11A1","SLC12A2","SLC12A6","SLC18A3","SLC25A1","SLC25A19","SLC25A24","SLC26A2","SLC26A9","SLC29A3","SLC2A10","SLC35A2","SLC35A3","SLC35B2","SLC35C1","SLC35D1","SLC37A4","SLC39A14","SLC39A7","SLC3A1","SLC5A7","SLC6A14","SLC6A17","SLC6A8","SLC6A9","SLC9A3","SLC9A6","SLX4","SMAD2","SMAD3","SMAD4","SMC1A","SMC3","SMC5","SMCHD1","SMG8","SMO","SMOC1","SMPD4","SMS","SNAP25","SNIP1","SNRPB","SNRPN","SOBP","SON","SOS1","SOS2","SOST","SOX18","SOX5","SOX6","SOX9","SP7","SPAG1","SPATA5","SPATA5L1","SPECC1L","SPEF2","SPEG","SPEN","SPI1","SPOP","SPRED1","SPRED2","SPRTN","SRCAP","SRP54","SRPX2","SRY","SSR4","STAC3","STAG1","STAG2","STAMBP","STAT4","STEEP1","STK36","STK4","STRA6","STT3A","STX1A","STXBP2","SUFU","SUPT16H","SUZ12","SVIL","SYT2","TAB2","TAF1","TAFAZZIN","TAP1","TAP2","TAPBP","TAPT1","TARS1","TASP1","TAT","TBC1D20","TBC1D2B","TBC1D7","TBCD","TBCE","TBCK","TBL1XR1","TBL2","TBX1","TBX15","TBX22","TBX4","TBXAS1","TCF3","TCIRG1","TCOF1","TCTN1","TCTN2","TCTN3","TELO2","TENT5A","TERC","TERT","TFAP2A","TFAP2B","TFE3","TGDS","TGFB1","TGFB2","TGFB3","TGFBR1","TGFBR2","THOC6","THSD4","THUMPD1","TINF2","TMCO1","TMEM107","TMEM165","TMEM216","TMEM231","TMEM237","TMEM270","TMEM67","TMEM70","TNFRSF11A","TNFRSF13B","TNFRSF13C","TNFRSF9","TNFSF11","TNNI2","TNNT3","TNPO2","TNRC6B","TOE1","TONSL","TOPORS","TOR1A","TP53RK","TP63","TPM2","TPM3","TPRKB","TRAIP","TRIM37","TRIO","TRIP11","TRIP13","TRIP4","TRMT1","TRMT10A","TRPM3","TRPS1","TRRAP","TSEN54","TSR2","TTC12","TTN","TUBA1A","TUBB","TUBB3","TUBGCP2","TWIST1","TWIST2","TXNDC15","TXNL4A","TYMS","UBA1","UBA2","UBB","UBE2A","UBE2T","UBE3A","UBE3B","UFD1","UNC119","UNC80","UPF3B","USB1","VAC14","VAMP1","VANGL2","VARS1","VPS13A","VPS13B","VPS33B","VPS35L","VPS37D","VPS53","WAS","WASHC5","WBP11","WDR11","WDR26","WDR35","WDR4","WDR62","WDR73","WIPF1","WLS","WNT3","WNT5A","WNT7A","WRAP53","WT1","XPA","XPC","XRCC2","XRCC4","YARS1","YARS2","YRDC","YY1","ZBTB11","ZBTB18","ZBTB20","ZBTB24","ZC4H2","ZDHHC9","ZEB2","ZMIZ1","ZMPSTE24","ZMYND10","ZNF292","ZNF335","ZNF341","ZNF668","ZNF699","ZNHIT3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BROAD_CHIN":{"collection":"C5:HPO","systematicName":"M37934","pmid":"","exactSource":"HP:0011822","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011822","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BROAD_CHIN","geneSymbols":["DYRK1A","EBF3","KANSL1","LMX1B","SLC12A2","STEEP1","STXBP1","TAF1","WAC"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CHIN_WITH_HORIZONTAL_CREASE":{"collection":"C5:HPO","systematicName":"M41422","pmid":"","exactSource":"HP:0011823","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011823","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHIN_WITH_HORIZONTAL_CREASE","geneSymbols":["CDH11","DLK1","EED","FOXP1","MEG3","NAA10","RTL1","SCNM1","TRPS1","TWIST2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CHIN_WITH_H_SHAPED_CREASE":{"collection":"C5:HPO","systematicName":"M46210","pmid":"","exactSource":"HP:0011824","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011824","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHIN_WITH_H_SHAPED_CREASE","geneSymbols":["DLK1","MEG3","MYH3","NALCN","RTL1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_ORAL_MUCOSA_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M37935","pmid":"","exactSource":"HP:0011830","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011830","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ORAL_MUCOSA_MORPHOLOGY","geneSymbols":["ABCA5","ABCC6","ABCC9","ABCD1","ACD","ACVRL1","ADA2","ADAMTS2","ADAMTS3","AEBP1","AFF3","AGA","AIMP2","ALMS1","ANTXR2","AP3B1","ASXL3","ATG7","ATP6V1B2","ATRX","B4GALT7","BANK1","BAZ1B","BCL7B","BCOR","BGN","BLK","BLOC1S3","BLOC1S5","BRAF","BUD23","C1QB","C1R","C1S","C4A","C4B","CARMIL2","CASP10","CAST","CAT","CCBE1","CCR1","CD27","CD40LG","CD96","CDH23","CDKN1A","CDKN1B","CDKN2B","CDKN2C","CEBPE","CLIP2","CLPB","CLTRN","CNTNAP1","COL17A1","COL3A1","COL7A1","CR2","CTC1","CTLA4","CTSC","CXCR4","CYBA","CYBB","CYBC1","DCLRE1B","DCLRE1C","DDR2","DHCR24","DHCR7","DKC1","DNAJC21","DNAJC30","DNASE1","DNM1","DSG3","DSP","DVL1","DVL3","DYNC2LI1","ECM1","EDA","EFL1","EIF4H","ELANE","ELF4","ELMO2","ELN","ELOVL4","EMC1","ENG","ERAP1","ETS1","EVC","EVC2","EXTL3","F10","F13A1","F13B","F2","F5","F7","F8","FAM20A","FAM20C","FAS","FASLG","FAT4","FBXO28","FCGR2B","FCGR2C","FCGR3B","FERMT1","FGA","FGB","FGF3","FGFR2","FGG","FIG4","FIP1L1","FKBP6","FZD2","G6PC3","GBA1","GCGR","GFI1","GJB2","GJB6","GLB1","GLI1","GLMN","GNAQ","GNPTAB","GORAB","GP1BA","GP1BB","GP9","GPC3","GPC4","GTF2I","GTF2IRD1","GTF2IRD2","GUSB","HIVEP2","HLA-B","HLA-DQA1","HLA-DQB1","HLA-DRB1","HPS1","HPS3","HYLS1","HYMAI","HYOU1","IDS","IDUA","IER3IP1","IFNG","IFNGR1","IGHG1","IL10","IL10RA","IL12A","IL12A-AS1","IL17RC","IL18BP","IL1RN","IL21","IL23R","IL6","IL6ST","IL7R","INSR","IRAK1","IRF2BP2","IRF5","IRF9","ITGA2B","ITGA6","ITGAM","ITGB2","ITGB3","ITGB4","ITK","JAK2","JAZF1","KCNH1","KCNJ6","KCNK4","KCNMA1","KCNN3","KIAA0319L","KIF1A","KIF23","KIF7","KLRC4","KRT14","KRT16","KRT17","KRT4","KRT5","KRT6A","KRT6B","KRT6C","KYNU","LAMA3","LAMB3","LAMC2","LBR","LIMK1","LMAN1","LMBRD1","LMNB1","LYST","MALT1","MAN2B1","MAP1B","MBTPS2","MCFD2","MECP2","MEFV","MEN1","METTL27","MGAT2","MIA3","MLXIPL","MMACHC","MMP1","MMP14","MMP2","MPL","MTX2","MVK","MYD88","MYSM1","NABP1","NAGA","NCF1","NCF2","NCF4","NEU1","NFIX","NGF","NHP2","NLRP12","NLRP3","NOD2","NOP10","NOTCH2","NOTCH3","NPM1","NR3C1","NTRK1","NUMA1","NXN","OCRL","ORAI1","OSTM1","PARN","PDCD1","PDGFRB","PERP","PIGA","PIGN","PIGS","PLAGL1","PLEC","PLEKHM1","PLG","PML","PRF1","PRKACA","PRKACB","PRKAR1A","PRKCD","PRKDC","PRMT7","PTPN22","PXK","RACGAP1","RALGAPA1","RARA","RASGRP1","RELA","REST","RFC2","RHBDF2","RHOH","RIN2","RIPK1","RIPK4","RMRP","RNF125","ROR2","RORC","RPA1","RTEL1","SAA1","SAMD9","SASH3","SAT1","SATB2","SBDS","SC5D","SCARB2","SERPINF2","SETBP1","SH3PXD2B","SLC17A5","SLC29A3","SLC35C1","SLC37A4","SLC46A1","SLC6A19","SMAD4","SOS1","SPP1","SREBF1","SRP19","SRP54","STAT3","STAT4","STAT5B","STK11","STK4","STX1A","SYK","TBC1D24","TBC1D2B","TBCK","TBL1XR1","TBL2","TCIRG1","TCTN3","TERC","TERT","TET2","TGDS","TICAM1","TINF2","TLR4","TLR7","TLR8","TMCO1","TMEM270","TNFAIP3","TNFSF4","TNIP1","TP53","TREX1","TRIM8","TRPV3","TSC1","TSC2","TWIST2","TYMS","UBAC2","UBE2L3","USB1","USP48","USP8","USP9X","VAC14","VPS13B","VPS37D","WAS","WDR1","WDR26","WIPF1","WNT5A","WRAP53","XYLT1","XYLT2","ZAP70","ZBTB16","ZEB2","ZNHIT3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_OVERHANGING_NASAL_TIP":{"collection":"C5:HPO","systematicName":"M41423","pmid":"","exactSource":"HP:0011833","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011833","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OVERHANGING_NASAL_TIP","geneSymbols":["ATN1","COG4","MAPKAPK5","METTL5","PRKACA","SIN3A","TCF4","TGFB3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MOYAMOYA_PHENOMENON":{"collection":"C5:HPO","systematicName":"M37936","pmid":"","exactSource":"HP:0011834","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011834","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MOYAMOYA_PHENOMENON","geneSymbols":["ACTA2","ADAR","BRCC3","GUCY1A1","IFIH1","LSM11","NFIA","PCNT","RNASEH2A","RNASEH2B","RNASEH2C","RNF213","RNU7-1","SAMHD1","TREX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SCLERODACTYLY":{"collection":"C5:HPO","systematicName":"M47192","pmid":"","exactSource":"HP:0011838","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011838","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SCLERODACTYLY","geneSymbols":["GJA1","LBR","LMNA","RSPO1","SMARCAD1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_T_CELL_PHYSIOLOGY":{"collection":"C5:HPO","systematicName":"M37937","pmid":"","exactSource":"HP:0011840","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011840","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_T_CELL_PHYSIOLOGY","geneSymbols":["ADA","AK2","ARVCF","CARD11","CARMIL2","CASP10","CASP8","CD19","CD3E","CD40LG","CIITA","COG6","COMT","CR2","CTPS1","DGCR2","DGCR6","DGCR8","DOCK2","EPG5","ESS2","FAS","FASLG","GATA3","GP1BB","HIRA","HLA-DRB1","ICOS","JAK3","JMJD1C","LCP2","LEP","LEPR","LIG1","MAGT1","MRTFA","NSMCE3","PGM3","PNP","RAB27A","RAG1","RAG2","RASGRP1","RFX5","RFXANK","RFXAP","RNU4ATAC","RREB1","SEC24C","SLC39A4","SMARCAL1","TBX1","TGFB1","TNFRSF13B","TNFRSF13C","UFD1","UMPS","WAS","WIPF1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_MUSCULOSKELETAL_PHYSIOLOGY":{"collection":"C5:HPO","systematicName":"M47193","pmid":"","exactSource":"HP:0011843","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011843","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MUSCULOSKELETAL_PHYSIOLOGY","geneSymbols":["AARS1","ABCA12","ABCC6","ABCC8","ABCC9","ABCD1","ABCD4","ABHD12","ABL1","ACADM","ACADS","ACAN","ACER3","ACP5","ACTA1","ACTB","ACTG1","ACTG2","ACVR1","ADAMTS10","ADAMTS17","ADAMTS2","ADAMTS3","ADAMTSL2","ADAMTSL4","ADAR","ADAT3","ADCY6","ADGRG1","ADGRG6","ADGRL1","ADGRV1","ADNP","AEBP1","AFF4","AGA","AGPAT2","AGRN","AGTPBP1","AGXT","AHDC1","AHSG","AIFM1","AIMP1","AIMP2","AIP","AKT1","ALAD","ALDH18A1","ALDH3A2","ALG1","ALG12","ALG13","ALG14","ALG2","ALG3","ALG8","ALG9","ALMS1","ALOX12B","ALOXE3","ALPL","ALS2","ALX1","ALX3","AMER1","AMMECR1","ANAPC1","ANKH","ANKLE2","ANKRD11","ANKRD17","ANKRD55","ANO5","ANOS1","ANTXR1","ANTXR2","AP1G1","AP1S2","AP2S1","AP4B1","AP4E1","AP4M1","AP4S1","APC","APC2","ARCN1","ARF1","ARFGEF2","ARID1A","ARID1B","ARID2","ARMC5","ARPC4","ARSB","ARVCF","ARX","ASAH1","ASCC1","ASH1L","ASPA","ASPH","ASPN","ASXL1","ASXL2","ASXL3","ATAD1","ATL1","ATL3","ATN1","ATP11A","ATP2A1","ATP5F1D","ATP6AP1","ATP6V0A2","ATP6V1A","ATP6V1B2","ATP6V1E1","ATP7A","ATP7B","ATPAF2","ATR","ATRIP","ATRX","AUTS2","B2M","B3GALT6","B3GAT3","B3GLCT","B4GALT7","B9D2","BAG3","BANF1","BAZ1B","BCAS3","BCL11A","BCL7B","BCOR","BCR","BGN","BHLHA9","BICD2","BICRA","BIN1","BLNK","BLTP1","BMP1","BMP15","BMP2","BMP6","BMPER","BMPR1A","BMPR1B","BNC1","BPNT2","BRAF","BRAT1","BRD4","BRF1","BRPF1","BSCL2","BTK","BUD23","C12orf4","C18orf32","C19orf12","C1R","C1S","C2orf69","C4A","CA2","CACNA1A","CACNA1C","CACNA1E","CADM3","CAMK2A","CAMLG","CAMTA1","CANT1","CAPN3","CARS1","CASR","CASZ1","CAV1","CAVIN1","CBL","CBS","CCBE1","CCDC134","CCDC141","CCDC22","CCDC32","CCDC47","CCDC8","CCN2","CCN6","CCND1","CCNQ","CCR1","CCR6","CCT5","CD244","CD247","CD79A","CD79B","CD96","CDC42","CDC42BPB","CDC45","CDC6","CDC73","CDH11","CDH23","CDH3","CDK13","CDK5","CDKN1A","CDKN1B","CDKN1C","CDKN2B","CDKN2C","CDON","CDT1","CENPE","CENPJ","CENPT","CEP104","CEP152","CEP55","CEP57","CFL2","CHAMP1","CHAT","CHD3","CHD4","CHD7","CHEK2","CHMP1A","CHN1","CHP1","CHRNA1","CHRNB1","CHRND","CHRNE","CHRNG","CHST11","CHST14","CHST3","CHSY1","CIITA","CISD2","CKAP2L","CLCF1","CLCN3","CLCN5","CLCN7","CLDN11","CLIC2","CLIP2","CLPB","CLTCL1","CNTN1","CNTNAP1","COASY","COG1","COG5","COL11A1","COL11A2","COL12A1","COL13A1","COL17A1","COL18A1","COL1A1","COL1A2","COL25A1","COL27A1","COL2A1","COL3A1","COL5A1","COL5A2","COL6A1","COL6A2","COL6A3","COL7A1","COL9A1","COL9A2","COL9A3","COLEC10","COLEC11","COLQ","COMP","COMT","COPB2","COQ7","COX11","COX4I1","COX4I2","CPLX1","CPOX","CPT2","CREB3L1","CREBBP","CRKL","CRLF1","CRPPA","CRTAP","CSGALNACT1","CSNK2A1","CTBP1","CTC1","CTCF","CTDP1","CTNNB1","CTNND2","CTNS","CTSK","CUL4B","CUL7","CYB5A","CYBA","CYBB","CYP11A1","CYP11B1","CYP17A1","CYP19A1","CYP26B1","CYP27A1","CYP27B1","CYP2R1","DAG1","DARS2","DBH","DCAF17","DCC","DCHS1","DCPS","DCX","DDB1","DDB2","DDHD2","DDOST","DDR2","DDRGK1","DDX3X","DDX6","DEAF1","DEGS1","DHCR24","DHODH","DHX16","DHX30","DHX37","DISP1","DKC1","DKK1","DLG4","DLK1","DLL1","DLL3","DMD","DMP1","DMRT3","DNA2","DNAJB6","DNAJC21","DNAJC30","DNAL4","DNM2","DNMT1","DNMT3A","DOK7","DONSON","DPAGT1","DPF2","DPH1","DPH2","DPM1","DPM2","DPP6","DPYD","DPYSL5","DSE","DSP","DST","DUSP6","DVL1","DVL3","DYM","DYNC2LI1","DYRK1A","DYSF","EBP","ECE1","ECEL1","EED","EFEMP2","EFL1","EFNB1","EHHADH","EIF4A3","EIF4H","EIF5A","ELANE","ELN","ELOVL4","ELP1","EMD","EMG1","EMILIN1","EN1","ENPP1","EP300","EPB41L1","EPCAM","EPG5","ERAP1","ERBB3","ERCC1","ERCC2","ERCC3","ERCC4","ERCC5","ERCC6","ERCC8","ERGIC1","ERLIN1","ERLIN2","ERMARD","ESCO2","ESR1","EVC","EVC2","EXOC2","EXOC6B","EXOC7","EXOC8","EXOSC3","EXOSC5","EXOSC8","EXOSC9","EXT1","EXT2","EXTL3","EYA1","EZH2","F8","FAM111A","FAM111B","FAM20C","FAN1","FANCC","FANCI","FAR1","FARSA","FARSB","FAS","FAT4","FBLN1","FBLN5","FBN1","FBN2","FBXL3","FBXO28","FBXW11","FCSK","FDFT1","FERMT1","FEZF1","FGD1","FGF16","FGF17","FGF23","FGF8","FGF9","FGFR1","FGFR2","FGFR3","FGFRL1","FHL1","FIBP","FIG4","FIP1L1","FITM2","FKBP10","FKBP14","FKBP6","FKRP","FKTN","FLI1","FLII","FLNA","FLNB","FLNC","FLRT1","FLRT3","FLVCR1","FLVCR2","FMR1","FN1","FOCAD","FOS","FOXA2","FOXE1","FOXH1","FOXP1","FOXP2","FOXP3","FSHB","FSHR","FUCA1","FUS","FUT8","FUZ","FZD2","FZD4","GABRA1","GABRD","GABRG2","GAD1","GALNS","GAN","GARS1","GAS1","GATA1","GATA2","GATA4","GATAD2B","GATM","GBA1","GBE1","GCH1","GCK","GDAP1","GDF11","GDF3","GDF5","GDF6","GET4","GFM2","GFPT1","GH1","GHR","GHRHR","GHSR","GJA1","GJA5","GJA8","GJB1","GJB2","GJB6","GK","GLB1","GLDN","GLE1","GLI1","GLI2","GLI3","GLRA1","GLRB","GLUL","GMNN","GMPPB","GNAI3","GNAS","GNB1","GNB2","GNE","GNPAT","GNPTAB","GNPTG","GNRH1","GNRHR","GNS","GOLGA2","GON7","GORAB","GP1BB","GPC3","GPC4","GPC6","GPHN","GPKOW","GPR101","GPT2","GPX4","GRB10","GRIA3","GRIA4","GRID2","GRIN1","GSC","GTF2E2","GTF2H5","GTF2I","GTF2IRD1","GTF2IRD2","GTPBP2","GUSB","GZF1","H1-4","H19","H3-3A","H3-3B","H4C5","H4C9","HABP2","HACD1","HBA1","HBA2","HBB","HCN1","HDAC4","HDAC8","HEPHL1","HERC1","HES7","HESX1","HEXB","HFE","HGD","HGSNAT","HIKESHI","HINT1","HIRA","HK1","HLA-B","HLA-DRB1","HMBS","HMGA2","HNF1B","HNRNPA1","HNRNPA2B1","HNRNPDL","HNRNPH1","HNRNPH2","HNRNPK","HOXA11","HOXA13","HOXD13","HPDL","HPGD","HRAS","HS2ST1","HS6ST1","HSD11B1","HSD17B4","HSPB1","HSPD1","HSPG2","HTRA1","HUWE1","HYAL1","HYMAI","IARS1","IARS2","IBA57","IDH1","IDH2","IDS","IDUA","IER3IP1","IFIH1","IFITM5","IFNGR1","IFT122","IFT43","IFT52","IFT57","IGF1","IGF1R","IGF2","IGFALS","IGHM","IGHMBP2","IGLL1","IHH","IKBKG","IL10","IL12A","IL12A-AS1","IL12RB1","IL17RD","IL1R1","IL1RAPL1","IL1RN","IL23R","IL2RA","IL2RB","IL6ST","IMPDH2","INF2","INPP5K","INPPL1","INS","INSR","IPO8","IQSEC2","IRF2BP2","IRF5","IRF6","IRX5","ITCH","ITGA7","ITGB2","ITGB4","ITGB6","JAG2","JARID2","JMJD1C","JUP","KANSL1","KARS1","KAT6B","KBTBD13","KCNAB2","KCNH1","KCNJ11","KCNJ2","KCNJ5","KCNJ6","KCNJ8","KCNK9","KCNMA1","KCNN3","KCNQ1","KCNQ1OT1","KDELR2","KDM1A","KDM3B","KDM5B","KDM5C","KDM6A","KDM6B","KIAA0319L","KIAA0753","KIDINS220","KIF14","KIF15","KIF1A","KIF1B","KIF21A","KIF22","KIF26A","KIF5A","KIF5C","KISS1","KISS1R","KIT","KLC2","KLHL40","KLHL41","KLHL7","KLHL9","KLRC4","KMT2A","KMT2B","KMT2D","KRAS","KRT1","KRT14","KRT16","KRT17","KRT5","KRT6A","KRT6B","KRT83","KRT9","KY","L1CAM","LAGE3","LAMA2","LAMA5","LAMB2","LAMB3","LARGE1","LBR","LEMD3","LEP","LEPR","LETM1","LFNG","LGI4","LGR4","LHCGR","LHX4","LIAS","LIFR","LIG4","LIMK1","LMBR1","LMBRD2","LMNA","LMNB1","LMNB2","LMOD3","LMX1B","LONP1","LOX","LPIN2","LRP4","LRP5","LRRC8A","LSM11","LSS","LTBP1","LTBP2","LTBP3","LTBP4","LUZP1","LZTR1","MACROH2A1","MADD","MAF","MAFB","MAGEL2","MALT1","MAMLD1","MAN1B1","MAN2B1","MAP1B","MAP2K2","MAP3K1","MAP3K20","MAP3K7","MAPK1","MARS1","MASP1","MATN3","MBTPS2","MC2R","MCM9","MCTP2","MECOM","MECP2","MECR","MED11","MED12","MED13L","MED25","MEFV","MEG3","MEGF10","MEGF8","MEN1","MEOX1","MESD","MESP2","MET","METTL27","MFN2","MICU1","MINPP1","MKKS","MKRN3","MKS1","MLH1","MLH3","MLXIPL","MME","MMP1","MMP13","MMP14","MMP2","MMP23B","MMP9","MOGS","MORC2","MPDU1","MPLKIP","MPV17","MRAS","MRE11","MRPS22","MRPS34","MSH2","MSH4","MSH6","MSL3","MSMO1","MSTO1","MT-ATP6","MT-ATP8","MT-TE","MT-TK","MT-TL1","MTAP","MTM1","MTMR14","MTRFR","MTX2","MUSK","MVK","MYBPC1","MYH2","MYH3","MYH7","MYH8","MYL1","MYL11","MYL2","MYMK","MYO18B","MYO9A","MYOD1","MYOT","MYPN","NAA10","NABP1","NACC1","NADSYN1","NAE1","NAGLU","NALCN","NANS","NARS1","NBAS","NCAPG2","NCF1","NCF2","NDE1","NDNF","NDRG1","NDUFAF4","NDUFAF6","NDUFS3","NEB","NEDD4L","NEFL","NEK9","NELFA","NEPRO","NEU1","NF1","NFASC","NFATC2","NFE2L2","NFIX","NFKBIL1","NGF","NGLY1","NHERF1","NHLH2","NHP2","NIN","NIPA1","NIPBL","NKAP","NKX3-2","NLRP1","NLRP12","NLRP3","NMNAT1","NOD2","NODAL","NOG","NONO","NOP10","NOTCH2","NOTCH3","NPM1","NPPA","NPR2","NPR3","NR0B1","NR2F1","NR3C1","NR4A2","NR5A1","NRAS","NRCAM","NSD1","NSD2","NSDHL","NSMF","NSRP1","NSUN2","NT5C2","NTN1","NTRK1","NUMA1","NUP107","NUP133","NUP188","NUP85","NUP88","NXN","OBSL1","OCA2","OCRL","OFD1","OPA1","OPA3","ORAI1","ORC1","ORC4","ORC6","OSGEP","OTUD5","OTUD6B","OTX2","P3H1","P4HA2","P4HB","P4HTM","PAK2","PAM16","PANK2","PARN","PAX1","PAX2","PAX3","PAX7","PAX8","PCDH19","PCGF2","PCNA","PCNT","PCSK1","PCYT1A","PDE4D","PDGFRB","PDHA1","PDPN","PDX1","PDXK","PERP","PEX1","PEX2","PEX5","PEX6","PEX7","PGM2L1","PGM3","PHACTR1","PHEX","PHF6","PHGDH","PHIP","PI4KA","PIEZO2","PIGA","PIGG","PIGL","PIGN","PIGP","PIGS","PIGT","PIGU","PIGY","PIK3C2A","PIK3CA","PIK3R1","PIK3R2","PIP5K1C","PITX1","PKDCC","PLA2G6","PLAA","PLAGL1","PLCH1","PLEC","PLEKHG5","PLEKHM1","PLK4","PLOD1","PLOD2","PLOD3","PLP1","PLXND1","PML","PMM2","PMP22","PMS1","PMS2","PNKD","PNPLA6","PNPT1","POGZ","POLA1","POLD1","POLE","POLR1D","POLR3A","POLR3GL","POLR3H","POMC","POMK","POMT1","POMT2","POP1","POR","PORCN","POT1","POU1F1","POU3F4","PPARG","PPIB","PPP1CB","PPP1R12A","PPP1R15B","PPP1R21","PPP2R1A","PPP2R3C","PPP2R5D","PPP3CA","PPT1","PQBP1","PRDM16","PRDM5","PRG4","PRKACA","PRKACB","PRKAR1A","PRKCZ","PRKG2","PRKRA","PROK2","PROKR2","PROP1","PRR12","PRRT2","PRUNE1","PSAP","PSAT1","PSMB4","PSMB8","PSMB9","PSMC3IP","PSMG2","PSTPIP1","PTCH1","PTCH2","PTDSS1","PTEN","PTF1A","PTH1R","PTHLH","PTPN11","PTPN2","PTPN22","PTRH2","PUF60","PUS1","PYCR1","PYCR2","PYROXD1","QRICH1","RAB18","RAB23","RAB33B","RAB3GAP1","RAB3GAP2","RAB7A","RAC1","RAD21","RAD51","RAF1","RAI1","RAPSN","RARA","RARS2","RASA1","RASA2","RB1","RBBP8","RBM28","RBM8A","RECQL","RECQL4","REEP1","REL","RERE","RET","RETREG1","REV3L","RFC1","RFC2","RFT1","RFX7","RIC1","RIN2","RIPK4","RIPPLY2","RIT1","RMRP","RNASEH2A","RNASEH2B","RNASEH2C","RNF113A","RNF125","RNF13","RNF135","RNPC3","RNU12","RNU4ATAC","RNU7-1","ROR2","RPL10","RPL26","RPS20","RPS6KA3","RRAS","RRAS2","RREB1","RRM2B","RSPO2","RSPRY1","RTEL1","RTL1","RTTN","RUNX1","RUNX2","RUSC2","RYR1","RYR3","SALL1","SALL4","SAMHD1","SATB1","SATB2","SBDS","SC5D","SCARB2","SCARF2","SCN1A","SCN1B","SCN2A","SCN4A","SCN5A","SCN9A","SCNN1A","SCNN1B","SCNN1G","SCUBE3","SCYL2","SDHA","SDHAF1","SDHB","SDHD","SEC23A","SEC24C","SEC24D","SEC31A","SECISBP2","SELENON","SEMA3A","SEMA4A","SEMA5A","SEPSECS","SERPINF1","SERPINF2","SERPINH1","SET","SETBP1","SETD1A","SETD2","SF3B2","SF3B4","SFRP4","SGCA","SGCG","SGMS2","SGSH","SH3PXD2B","SHANK3","SHH","SHOC2","SHOX","SHPK","SIGMAR1","SIK3","SIL1","SIN3A","SIN3B","SIX3","SIX6","SKI","SKIC3","SLC10A7","SLC12A6","SLC16A2","SLC18A3","SLC1A2","SLC1A4","SLC22A4","SLC25A1","SLC25A19","SLC25A24","SLC25A4","SLC25A46","SLC26A2","SLC29A3","SLC2A10","SLC34A1","SLC34A3","SLC35A2","SLC35A3","SLC35B2","SLC35D1","SLC37A4","SLC39A13","SLC39A14","SLC39A7","SLC39A8","SLC4A1","SLC4A2","SLC5A7","SLC6A5","SLC6A8","SLC6A9","SLC7A7","SLC9A6","SLCO2A1","SLURP1","SMAD3","SMAD4","SMAD6","SMARCA2","SMARCA4","SMARCAD1","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SMC1A","SMC3","SMG9","SMOC1","SMPD1","SMPD4","SMS","SNAP25","SNRPB","SNX10","SNX14","SOBP","SOHLH1","SON","SOS1","SOS2","SOX10","SOX11","SOX2","SOX3","SOX4","SOX5","SOX9","SP7","SPARC","SPART","SPEG","SPEN","SPG11","SPG7","SPI1","SPIDR","SPRED2","SPRTN","SPRY4","SPTBN1","SPTBN4","SPTLC1","SPTLC2","SQSTM1","SRCAP","SRD5A3","SRP54","SRPX2","SRSF2","SRY","STAC3","STAG1","STAG2","STAT1","STAT3","STAT4","STAT5B","STIL","STIM1","STING1","STRADA","STX1A","STX1B","STXBP1","SUCLG1","SUFU","SUMF1","SUZ12","SVIL","SYK","SYNE1","SYNE2","SYT1","SYT2","TAB2","TAC3","TACR3","TAF1","TAF13","TANC2","TAOK1","TAPT1","TARS1","TBC1D20","TBC1D2B","TBCD","TBCE","TBCK","TBL1XR1","TBL2","TBR1","TBX1","TBX15","TBX2","TBX22","TBX3","TBX4","TBX5","TBX6","TCF12","TCF20","TCF3","TCIRG1","TCTN3","TDGF1","TDO2","TEK","TELO2","TENT5A","TERC","TERT","TET2","TET3","TFAP2A","TFAP2B","TFE3","TGDS","TGFB1","TGFB2","TGFB3","TGFBR1","TGFBR2","TGIF1","TGM1","THOC2","THOC6","THRA","TIMM8A","TINF2","TLK2","TLR4","TMCO1","TMEM107","TMEM165","TMEM218","TMEM222","TMEM270","TMEM38B","TMEM43","TMEM67","TMEM70","TMTC3","TNFRSF11A","TNFRSF11B","TNFRSF1A","TNFSF11","TNNC2","TNNI2","TNNT1","TNNT3","TNPO3","TNRC6B","TNXB","TOGARAM1","TOM1","TONSL","TOR1A","TOR1AIP1","TP53","TP53RK","TP63","TPM2","TPM3","TPRKB","TRAIP","TRAK1","TRAPPC2","TREM2","TREX1","TRH","TRHR","TRIM2","TRIM8","TRIP11","TRIP13","TRIP4","TRMT10A","TRPS1","TRPV3","TRPV4","TRPV6","TSEN54","TSHB","TSHR","TTC26","TTN","TUBA1A","TUBB3","TWIST1","TWIST2","TYMS","TYROBP","UBA1","UBAC2","UBE3A","UBE3C","UBE4B","UBR1","UCHL1","UFC1","UFD1","UFSP2","UNC45A","UNC80","UPF3B","UROS","USB1","USP48","USP7","USP8","USP9X","VAMP1","VAMP7","VANGL1","VAPB","VARS1","VCP","VDR","VHL","VIPAS39","VMA21","VPS11","VPS13B","VPS33A","VPS33B","VPS37A","VPS37D","VPS53","VRK1","VWA1","WASF1","WBP11","WDR11","WDR19","WDR26","WDR35","WDR4","WDR45B","WDR73","WFS1","WIPI2","WNK1","WNT1","WNT3A","WNT5A","WNT7A","WRAP53","WRN","WT1","WWOX","XPA","XPC","XYLT1","XYLT2","YARS1","YRDC","YWHAG","YY1","YY1AP1","ZBTB16","ZBTB20","ZBTB42","ZC4H2","ZDHHC9","ZEB2","ZFHX2","ZFPM2","ZIC1","ZIC2","ZIC3","ZMIZ1","ZMPSTE24","ZMYM2","ZNF335","ZNF341","ZNF407","ZNF469","ZNF687","ZNF699","ZNHIT3","ZPR1","ZSWIM7"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABDOMINAL_COLIC":{"collection":"C5:HPO","systematicName":"M46211","pmid":"","exactSource":"HP:0011848","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011848","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABDOMINAL_COLIC","geneSymbols":["ABCB4","ALAD","APRT","DGAT1","SI"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PICA":{"collection":"C5:HPO","systematicName":"M46212","pmid":"","exactSource":"HP:0011856","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011856","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PICA","geneSymbols":["ASH1L","CDK13","CHD8","DHPS","ELP2","PGM2L1","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_REDUCED_FACTOR_IX_ACTIVITY":{"collection":"C5:HPO","systematicName":"M47194","pmid":"","exactSource":"HP:0011858","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011858","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_FACTOR_IX_ACTIVITY","geneSymbols":["F9","GGCX","MGAT2","PMM2","SLC37A4","VKORC1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PUNCTATE_KERATITIS":{"collection":"C5:HPO","systematicName":"M45446","pmid":"","exactSource":"HP:0011859","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011859","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PUNCTATE_KERATITIS","geneSymbols":["EPCAM","GJB2","GJB6","NLRP1","PERCC1","PLEC"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_STERNAL_OSSIFICATION":{"collection":"C5:HPO","systematicName":"M37938","pmid":"","exactSource":"HP:0011863","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011863","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_STERNAL_OSSIFICATION","geneSymbols":["CD96","CPLX1","CTBP1","FGFRL1","FIG4","LETM1","NFIX","NSD2","ORC1","ORC6","SOX9","VAC14"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_ILIAC_WING_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M37939","pmid":"","exactSource":"HP:0011867","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011867","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ILIAC_WING_MORPHOLOGY","geneSymbols":["AIFM1","AMER1","ARSB","ATP7A","B3GALT6","BGN","CCBE1","COL11A2","COL2A1","CREBBP","CTSK","DDR2","DLK1","DYM","EED","EIF2AK3","EP300","ERCC6","ERCC8","EVC","EVC2","EZH2","FGFR3","FLNA","FN1","FUZ","GALNS","GATA1","GLB1","GNPTAB","GNPTG","GPC3","GPC4","GPX4","GUSB","HDAC6","IDUA","IHH","LAMA5","LYSET","MATN3","MEG3","MMP13","NANS","NKX3-2","PCNT","PEX5","PHEX","PLEKHM1","PTH1R","RAB23","RIPK4","RNU4ATAC","RPS6KA3","RTL1","RUNX2","SEC23A","SEC24D","SMAD4","SOX9","TBX15","TRAPPC2","TRIP11","TRPV4","VANGL1","VPS33A","WNT7A","ZBTB20"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_PLATELET_FUNCTION":{"collection":"C5:HPO","systematicName":"M37940","pmid":"","exactSource":"HP:0011869","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011869","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PLATELET_FUNCTION","geneSymbols":["ABCG8","ACTN1","AP3B1","BLOC1S3","BLOC1S5","BLOC1S6","CALR","CBL","CISD2","DIAPH1","DTNBP1","EPHB2","FLI1","GATA1","GFI1B","GNAS","GP1BA","GP1BB","GP6","GP9","GUCY1A1","HPS3","HPS5","HPS6","IKZF5","ITGA2B","ITGB3","KCNJ1","KRAS","LCP2","LYST","LZTR1","MGAT2","MRAS","MYH9","NBEAL2","NRAS","P2RY12","PLA2G4A","PLAU","PTPN11","RAF1","RASA2","RASGRP2","RIT1","RRAS","RRAS2","RUNX1","SAMD9L","SH2B3","SLC35A1","SOS1","SOS2","SPRED2","TBXA2R","THPO","TUBB1","VWF","WAS","WIPF1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_IMPAIRED_RISTOCETIN_INDUCED_PLATELET_AGGREGATION":{"collection":"C5:HPO","systematicName":"M37941","pmid":"","exactSource":"HP:0011871","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011871","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRED_RISTOCETIN_INDUCED_PLATELET_AGGREGATION","geneSymbols":["GP1BA","GP1BB","GP6","GP9","IKZF5","ITGA2B","ITGB3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_PLATELET_VOLUME":{"collection":"C5:HPO","systematicName":"M37944","pmid":"","exactSource":"HP:0011876","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011876","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PLATELET_VOLUME","geneSymbols":["ABCG8","ACTN1","ANKRD26","ARPC1B","CD36","CDC42","COG1","CYCS","DIAPH1","FLI1","FLNA","FYB1","GATA1","GFI1B","GP1BA","GP1BB","GP9","ITGA2B","ITGB3","LBR","MYH9","PRKACG","SC5D","SKIC2","SKIC3","SLC35A1","TUBA8","TUBB1","WAS"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INCREASED_MEAN_PLATELET_VOLUME":{"collection":"C5:HPO","systematicName":"M47195","pmid":"","exactSource":"HP:0011877","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011877","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_MEAN_PLATELET_VOLUME","geneSymbols":["ABCG8","ACTN1","CD36","CDC42","COG1","DIAPH1","FLI1","FLNA","GATA1","GFI1B","GP1BA","GP1BB","GP9","ITGA2B","ITGB3","LBR","MYH9","PRKACG","SC5D","SKIC2","SKIC3","SLC35A1","TUBA8","TUBB1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_PLATELET_MEMBRANE_PROTEIN_EXPRESSION":{"collection":"C5:HPO","systematicName":"M37945","pmid":"","exactSource":"HP:0011878","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011878","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PLATELET_MEMBRANE_PROTEIN_EXPRESSION","geneSymbols":["GP1BA","GP1BB","GP9","ITGA2B","ITGB3","SLC35A1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_PLATELET_GRANULES":{"collection":"C5:HPO","systematicName":"M37946","pmid":"","exactSource":"HP:0011883","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011883","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PLATELET_GRANULES","geneSymbols":["AP3B1","BLOC1S5","GATA1","GFI1B","HPS3","HPS4","HPS5","HPS6","IKZF5","LYST","NBEAL2","RUNX1","SLC35A1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_UMBILICAL_STUMP_BLEEDING":{"collection":"C5:HPO","systematicName":"M37947","pmid":"","exactSource":"HP:0011884","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011884","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_UMBILICAL_STUMP_BLEEDING","geneSymbols":["F10","F13A1","F13B","F2","FGA","FGB","FGG","SERPINF2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HEMORRHAGE_OF_THE_EYE":{"collection":"C5:HPO","systematicName":"M37948","pmid":"","exactSource":"HP:0011885","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011885","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEMORRHAGE_OF_THE_EYE","geneSymbols":["ABCC6","APOE","ARPC1B","ATOH7","ATP6V0A2","ATP6V1A","ATP6V1E1","BAP1","BEST1","CAPN5","CFH","CFHR1","CFHR3","CFI","COL4A1","CTNNB1","CYSLTR2","DNM2","DST","EFEMP1","ENPP1","ERCC6","ERCC8","FZD4","GCDH","GNA11","GNAQ","HMCN1","IFNG","IKBKG","LAMB2","LRP5","MYD88","NDP","PRF1","PROC","RANBP2","RB1","RS1","SBDS","SF3B1","SMC5","TERC","TERT","TREX1","TSPAN12","XYLT1","XYLT2","ZEB2","ZNF408"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BLEEDING_WITH_MINOR_OR_NO_TRAUMA":{"collection":"C5:HPO","systematicName":"M37949","pmid":"","exactSource":"HP:0011889","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011889","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BLEEDING_WITH_MINOR_OR_NO_TRAUMA","geneSymbols":["F13A1","F13B","F8","KRT1","LMAN1","MCFD2","SLC37A4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PROLONGED_BLEEDING_FOLLOWING_PROCEDURE":{"collection":"C5:HPO","systematicName":"M37950","pmid":"","exactSource":"HP:0011890","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011890","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROLONGED_BLEEDING_FOLLOWING_PROCEDURE","geneSymbols":["DIAPH1","DTNBP1","F10","F11","F13A1","F13B","F2","F5","F7","F8","FGA","FGB","FGG","GFI1B","GP1BA","GP1BB","GP9","IKZF5","ITGA2B","ITGB3","KIF23","LMAN1","MCFD2","P2RY12","RACGAP1","RASGRP2","RBM8A","SERPINE1","SLC37A4","VWF"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_POST_PARTUM_HEMORRHAGE":{"collection":"C5:HPO","systematicName":"M37951","pmid":"","exactSource":"HP:0011891","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011891","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POST_PARTUM_HEMORRHAGE","geneSymbols":["DIAPH1","DTNBP1","F10","F13A1","F13B","F2","F5","F7","F8","IKZF5","KIF23","RACGAP1","SERPINE1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LOW_LEVELS_OF_VITAMIN_K":{"collection":"C5:HPO","systematicName":"M47196","pmid":"","exactSource":"HP:0011892","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011892","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOW_LEVELS_OF_VITAMIN_K","geneSymbols":["AMACR","DNAJC21","DZIP1L","EFL1","GPR35","HLA-DQA1","HLA-DQB1","MST1","PKHD1","SBDS","SEMA4D","SRP54","TCF4","TJP2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_LEUKOCYTE_COUNT":{"collection":"C5:HPO","systematicName":"M37952","pmid":"","exactSource":"HP:0011893","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011893","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LEUKOCYTE_COUNT","geneSymbols":["AARS1","ABCD4","ABL1","ACAT1","ACP5","ADA","ADA2","ADAMTS3","ADH5","AGA","AGR2","AK2","ALG12","AMN","ANAPC1","ANKRD26","AP1S3","AP3B1","AP3D1","ARHGAP31","ARHGEF1","ARPC1B","ASXL1","ATM","ATP11A","ATP6AP1","ATP6AP2","ATRX","B2M","BACH2","BANK1","BCL10","BCL11B","BCOR","BCR","BLK","BLM","BLNK","BLOC1S6","BRAF","BRCA1","BRCA2","BRIP1","BTK","BTNL2","C4A","C4B","CA2","CALR","CAMK2B","CAPN3","CARD10","CARD11","CARD9","CARS1","CASK","CASP10","CASP8","CASR","CBL","CCBE1","CD19","CD247","CD3D","CD3E","CD3G","CD4","CD40","CD40LG","CD79A","CD79B","CD81","CD8A","CDC40","CDCA7","CDH23","CDSN","CEBPE","CFTR","CHD7","CIITA","CLPB","COG4","CORO1A","CPA1","CR2","CSF3R","CTLA4","CTNNBL1","CTPS1","CTRC","CUBN","CXCR2","CXCR4","CYBC1","DCLRE1B","DCLRE1C","DDX41","DEF6","DIAPH1","DKC1","DLL4","DNAJC21","DNASE1","DNMT3B","DOCK2","DOCK6","DOCK8","EFL1","EIF2AK3","ELANE","ELF4","EOGT","EPB42","EPG5","ERCC2","ERCC3","ERCC4","ERCC6L2","ETS1","ETV6","EXTL3","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FAS","FASLG","FAT4","FBXL4","FBXW7","FCGR2A","FCGR2B","FCGR3B","FCHO1","FDX2","FERMT3","FIBP","FIP1L1","FMO3","FNIP1","FOCAD","FOXN1","FOXP3","FUT8","G6PC3","G6PD","GATA1","GATA2","GBA1","GFI1","GINS1","GSS","GTF2E2","GTF2H5","HAX1","HBB","HEATR3","HELLS","HLA-DPB1","HLA-DRB1","HMGCL","HSCB","HTRA2","HYOU1","ICOS","IFIH1","IFNG","IFNGR1","IGHG1","IGHM","IGLL1","IKBKB","IKBKG","IKZF1","IKZF3","IL10","IL1RN","IL21","IL2RA","IL2RB","IL2RG","IL36RN","IL37","IL6R","IL6ST","IL7","IL7R","IPO8","IRAK1","IRAK4","IRF2BP2","IRF5","IRF8","ISCU","ITCH","ITGAM","ITGB2","ITK","IVD","IVNS1ABP","JAGN1","JAK1","JAK2","JAK3","JAZF1","KIAA0319L","KIT","KNSTRN","KRAS","LACC1","LAMTOR2","LAT","LBR","LCK","LCP2","LEP","LEPR","LIG1","LIG4","LIPA","LMBRD1","LMNB2","LPIN2","LRBA","LRRC8A","LYST","MAD2L2","MAGT1","MALT1","MCM10","MDM4","MECOM","MECP2","MEFV","MICU1","MMAA","MMAB","MMACHC","MMUT","MPL","MPLKIP","MS4A1","MSN","MTHFD1","MTRR","MVK","MYC","MYD88","MYSM1","NABP1","NAE1","NAF1","NBN","NCAPG2","NCKAP1L","NDUFA6","NFKB1","NFKB2","NFKBIA","NHEJ1","NHLRC2","NLRP1","NLRP12","NLRP3","NOTCH1","NPM1","NR3C1","NRAS","NSMCE3","NUMA1","OAS1","ORAI1","OSTM1","OTUD5","OTULIN","PACS2","PALB2","PCCA","PCCB","PDCD1","PDGFRA","PDGFRB","PGM3","PI4KA","PIGA","PIK3CD","PIK3CG","PIK3R1","PKHD1","PLCG2","PML","PNP","POMP","PPIL1","PRDX1","PRF1","PRIM1","PRKAR1A","PRKCD","PRKDC","PRSS1","PRSS2","PSMB4","PSMB9","PTEN","PTPN22","PTPRC","PXK","RAB27A","RAC2","RAD51","RAD51C","RAG1","RAG2","RARA","RASGRP1","RBCK1","RBM8A","RBPJ","RECQL4","REL","RELB","RFWD3","RFX5","RFXANK","RFXAP","RHOH","RIPK1","RMRP","RNASEH2B","RNF113A","RNU4ATAC","RPA1","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS14","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS7","RRAS2","RTEL1","RUNX1","SALL4","SAMD9","SAMD9L","SARS2","SASH3","SAT1","SBDS","SCARB2","SEC61A1","SF3B1","SGPL1","SH2D1A","SKIC2","SKIC3","SLC27A4","SLC35A1","SLC35C1","SLC37A4","SLC39A7","SLC46A1","SLC7A7","SLF2","SLX4","SMARCAL1","SMARCD2","SOCS1","SP110","SPI1","SPINK1","SPINK5","SPP1","SPRED2","SREBF1","SRP19","SRP54","SRSF2","STAT1","STAT2","STAT3","STAT4","STAT5B","STIM1","STING1","STK4","STN1","STX11","STXBP2","SYK","TAFAZZIN","TARS1","TBK1","TBL1XR1","TBX2","TBX21","TBXAS1","TCF3","TCIRG1","TCN2","TDP2","TERC","TERT","TET2","TFR2","TFRC","TGFB1","TICAM1","TINF2","TLR3","TLR7","TLR8","TNFAIP3","TNFRSF13B","TNFRSF13C","TNFRSF1A","TNFRSF9","TNFSF12","TNFSF4","TNIP1","TOM1","TONSL","TP53","TPP2","TRAC","TRAF3","TREX1","TRNT1","TSR2","TTC7A","TTI2","UBE2A","UBE2L3","UBE2T","UNC119","UNC13D","UNC93B1","UROS","USB1","USP48","USP8","VPS13B","VPS33A","VPS45","WAS","WDR1","WIPF1","XIAP","XRCC2","XRCC4","ZAP70","ZBTB16","ZBTB24","ZNF341","ZNF699","ZNFX1","ZPR1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ANEMIA_DUE_TO_REDUCED_LIFE_SPAN_OF_RED_CELLS":{"collection":"C5:HPO","systematicName":"M46213","pmid":"","exactSource":"HP:0011895","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011895","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANEMIA_DUE_TO_REDUCED_LIFE_SPAN_OF_RED_CELLS","geneSymbols":["ABCB6","ABCG8","ACP5","ADA","ADAMTS13","ADAR","AK1","ALAD","ALDOA","ANK1","ATP11C","ATP7B","BANK1","BCL11A","BLK","BTNL2","C3","C4A","C4B","CASK","CASP10","CD19","CD247","CD3G","CD40LG","CD46","CD59","CD81","CDAN1","CFB","CFH","CFHR1","CFHR3","CFI","CIITA","COL4A1","CPOX","CR2","CTLA4","CYBC1","DEF6","DGKE","DNASE1","EPB41","EPB42","ETS1","FAS","FASLG","FCGR2A","FCGR2B","FCGR3B","FECH","FOXP3","G6PD","GALT","GATA1","GCLC","GNB2","GP1BA","GPI","GPX1","GSR","GSS","GYPC","HBA1","HBA2","HBB","HBG1","HBG2","HELLPAR","HK1","HLA-DRB1","HMOX1","ICOS","IFIH1","IGHG1","IL10","IL2RA","IL2RB","IRAK1","IRF2BP2","IRF5","ITGAM","ITK","JAZF1","KCNN4","KDM6A","KIAA0319L","KLF1","KMT2D","KRAS","LAT","LCAT","LCP2","LRBA","MECP2","MS4A1","NBN","NFKB1","NFKB2","NHLRC2","NLRP1","NRAS","NT5C3A","PDCD1","PFKM","PGK1","PGM3","PI4KA","PIEZO1","PIGA","PIGT","PIK3CG","PKLR","PNP","PRKCD","PSMG2","PTPN22","PXK","RAG1","RAG2","RASGRP1","RFX5","RFXANK","RFXAP","RHAG","RHCE","RHD","RNU7-1","SAT1","SLC19A1","SLC2A1","SLC4A1","SOCS1","SPP1","SPTA1","SPTB","STAT1","STAT3","STAT4","STIM1","STK4","THBD","TLR7","TLR8","TNFAIP3","TNFRSF13B","TNFRSF13C","TNFRSF4","TNFSF12","TNFSF4","TNIP1","TOM1","TPI1","TPP2","TRAC","TREX1","TTC7A","UBE2L3","UROD","UROS","WAS","WIPF1","ZAP70"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NEUTROPHILIA":{"collection":"C5:HPO","systematicName":"M37953","pmid":"","exactSource":"HP:0011897","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011897","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEUTROPHILIA","geneSymbols":["ASXL1","CSF3R","IL1RN","IL36RN","IRF8","KIT","MEFV","MVK","OTULIN","PIK3CD","RAC2","RELB","SLC35C1","SRSF2","TBK1","TET2","TICAM1","TLR3","TRAF3","UNC93B1","ZNFX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_CIRCULATING_FIBRINOGEN":{"collection":"C5:HPO","systematicName":"M37954","pmid":"","exactSource":"HP:0011898","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011898","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_CIRCULATING_FIBRINOGEN","geneSymbols":["AHCY","ANK1","B4GALT1","BCOR","CD46","CFH","CFI","EPB42","FGA","FGB","FGG","FIP1L1","GNA14","HAVCR2","HELLPAR","IRF2BP2","ITGB2","LYST","MCM10","NABP1","NGLY1","NLRC4","NPM1","NUMA1","PML","PRF1","PRKAR1A","RARA","SLC37A4","SLC4A1","SLC7A7","SPTA1","SPTB","STAT3","STAT5B","STX11","STXBP2","TBL1XR1","TNFRSF9","UNC13D","XIAP","ZBTB16"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_HEMOGLOBIN":{"collection":"C5:HPO","systematicName":"M37955","pmid":"","exactSource":"HP:0011902","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011902","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_HEMOGLOBIN","geneSymbols":["ABCC8","ADA2","APPL1","ATRX","BCL11A","BLK","BLM","BSCL2","CEL","CELA2A","CYB5A","CYB5R3","DMXL2","DNAJC21","DNAJC3","EPOR","GATA1","GCK","HBA1","HBA2","HBB","HBD","HBG1","HBG2","HEATR3","HNF1A","HNF4A","INS","KCNJ11","KLF1","KLF11","MDM4","MPL","MTX2","NARS2","NEUROD1","NSMCE2","PAX4","PDX1","PRPS1","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS7","SBDS","SLC5A2","SRP54","THPO","TRMT5","TSR2","WRN","YIPF5","ZBTB7A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PERSISTENCE_OF_HEMOGLOBIN_F":{"collection":"C5:HPO","systematicName":"M37956","pmid":"","exactSource":"HP:0011904","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011904","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERSISTENCE_OF_HEMOGLOBIN_F","geneSymbols":["ADA2","BCL11A","DNAJC21","GATA1","HBB","HBG1","HBG2","HEATR3","KLF1","MDM4","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS7","SBDS","SRP54","TSR2","ZBTB7A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_METACARPOPHALANGEAL_JOINT_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M41424","pmid":"","exactSource":"HP:0011911","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011911","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_METACARPOPHALANGEAL_JOINT_MORPHOLOGY","geneSymbols":["ANKRD55","ASXL1","B3GAT3","BMP6","CD247","CHST3","COL2A1","COL3A1","FLNA","FMR1","GDF5","GJB6","HFE","IL2RA","IL2RB","MAP3K7","MYL11","NOG","NONO","POR","PQBP1","PTPN2","PTPN22","RNF13","STAT4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_GLENOID_FOSSA":{"collection":"C5:HPO","systematicName":"M41425","pmid":"","exactSource":"HP:0011912","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011912","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_GLENOID_FOSSA","geneSymbols":["DLK1","DYM","LMX1B","LYSET","MEG3","ORC1","RTL1","SCARF2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CARDIOVASCULAR_CALCIFICATION":{"collection":"C5:HPO","systematicName":"M37957","pmid":"","exactSource":"HP:0011915","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011915","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CARDIOVASCULAR_CALCIFICATION","geneSymbols":["ABCC6","ABCG5","ABCG8","ADAR","APOB","B2M","ENPP1","ERCC6","ERCC8","FBN1","GALNT3","GATA5","GBA1","HGD","IFIH1","LDLR","LDLRAP1","LMNA","LSM11","MTX2","NKX2-5","NOTCH1","NT5E","PCSK9","PDGFB","PDGFRB","RIGI","RNASEH2A","RNASEH2B","RNASEH2C","RNU7-1","SAMHD1","SLC20A2","SLC34A2","SMAD6","STAT1","TOM1","TREX1","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SHORT_5TH_TOE":{"collection":"C5:HPO","systematicName":"M46214","pmid":"","exactSource":"HP:0011917","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011917","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_5TH_TOE","geneSymbols":["COX4I1","DYRK1A","EP300","RBPJ","TBX3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_ACTIVITY_OF_MITOCHONDRIAL_RESPIRATORY_CHAIN":{"collection":"C5:HPO","systematicName":"M47197","pmid":"","exactSource":"HP:0011922","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011922","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ACTIVITY_OF_MITOCHONDRIAL_RESPIRATORY_CHAIN","geneSymbols":["AARS2","ACAD9","AFG3L2","AGK","AIFM1","ATP5F1A","ATP5F1D","ATP5F1E","ATPAF2","BCS1L","BOLA3","C1QBP","CARS2","CDK5","CHCHD10","COA3","COA5","COA6","COA8","COX16","COX20","COX4I1","COX5A","COX6A2","CRLS1","CYC1","DGUOK","EARS2","ELAC2","FBXL4","FDX2","FLAD1","FOXRED1","GATC","GFER","GFM1","GFM2","GTPBP3","HACD1","IBA57","ISCA2","ISCU","KARS1","LRPPRC","LYRM7","MECR","MGME1","MIEF2","MPV17","MRM2","MRPL12","MRPS14","MRPS16","MRPS22","MRPS23","MRPS25","MT-ND1","MT-ND2","MT-ND3","MT-TE","MT-TL1","MTFMT","MTO1","MTRFR","NARS2","NAXE","NDUFA1","NDUFA10","NDUFA11","NDUFA12","NDUFA13","NDUFA2","NDUFA4","NDUFA6","NDUFA8","NDUFA9","NDUFAF1","NDUFAF2","NDUFAF3","NDUFAF4","NDUFAF5","NDUFAF6","NDUFAF8","NDUFB10","NDUFB11","NDUFB3","NDUFB7","NDUFB8","NDUFB9","NDUFC2","NDUFS1","NDUFS2","NDUFS3","NDUFS4","NDUFS6","NDUFS7","NDUFS8","NDUFV1","NDUFV2","NFS1","NFU1","NSUN3","NUBPL","PET100","PET117","POLG","PTCD3","PUS1","QRSL1","RARS2","RRM2B","SCN4A","SCO2","SDHA","SDHB","SDHD","SFXN4","SLC25A10","SLC25A26","SLC25A4","SLC39A8","SUCLA2","SUCLG1","TIMM22","TIMM50","TIMMDC1","TK2","TMEM126B","TMEM70","TRIT1","TRMT5","TRMU","TSFM","TTC19","TXN2","UQCC2","UQCC3","UQCRB","UQCRH","UQCRQ","VARS2","YARS2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DECREASED_ACTIVITY_OF_MITOCHONDRIAL_COMPLEX_I":{"collection":"C5:HPO","systematicName":"M37959","pmid":"","exactSource":"HP:0011923","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011923","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_ACTIVITY_OF_MITOCHONDRIAL_COMPLEX_I","geneSymbols":["AARS2","ACAD9","AGK","ATP5F1A","BOLA3","C1QBP","CARS2","CRLS1","DGUOK","EARS2","ELAC2","FBXL4","FLAD1","FOXRED1","GATC","GFM1","GTPBP3","IBA57","ISCA2","ISCU","MECR","MGME1","MIEF2","MPV17","MRM2","MRPL12","MRPS14","MRPS16","MRPS22","MRPS23","MT-ND1","MT-ND2","MT-ND3","MT-TE","MT-TL1","MTFMT","MTRFR","NARS2","NDUFA1","NDUFA10","NDUFA11","NDUFA12","NDUFA13","NDUFA2","NDUFA6","NDUFA8","NDUFA9","NDUFAF1","NDUFAF2","NDUFAF3","NDUFAF4","NDUFAF5","NDUFAF6","NDUFAF8","NDUFB10","NDUFB11","NDUFB3","NDUFB7","NDUFB8","NDUFB9","NDUFC2","NDUFS1","NDUFS2","NDUFS3","NDUFS4","NDUFS6","NDUFS7","NDUFS8","NDUFV1","NDUFV2","NSUN3","NUBPL","POLG","PTCD3","PUS1","QRSL1","RARS2","SCN4A","SFXN4","SLC25A10","SLC25A26","SLC25A4","SUCLG1","TIMM22","TIMMDC1","TK2","TMEM126B","TRIT1","TRMT5","TRMU","TSFM","TXN2","UQCC2","VARS2","YARS2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DECREASED_ACTIVITY_OF_MITOCHONDRIAL_COMPLEX_III":{"collection":"C5:HPO","systematicName":"M37960","pmid":"","exactSource":"HP:0011924","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011924","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_ACTIVITY_OF_MITOCHONDRIAL_COMPLEX_III","geneSymbols":["AGK","ATP5F1A","BCS1L","BOLA3","C1QBP","CARS2","CHCHD10","CRLS1","CYC1","DGUOK","EARS2","FBXL4","GATC","GFM1","GFM2","ISCU","LYRM7","MIEF2","MPV17","MRPS14","MRPS16","MRPS22","MT-TL1","MTO1","NDUFS4","NFS1","NSUN3","QRSL1","RARS2","SLC25A4","SUCLG1","TIMM22","TK2","TRMT5","TSFM","TTC19","TXN2","UQCC2","UQCC3","UQCRB","UQCRH","UQCRQ","YARS2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DECREASED_ACTIVITY_OF_MITOCHONDRIAL_ATP_SYNTHASE_COMPLEX":{"collection":"C5:HPO","systematicName":"M46215","pmid":"","exactSource":"HP:0011925","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011925","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_ACTIVITY_OF_MITOCHONDRIAL_ATP_SYNTHASE_COMPLEX","geneSymbols":["ATP5F1A","ATP5F1D","ATP5F1E","ATPAF2","GFM1","MRPS14","MRPS16","MRPS22","MTRFR","TIMM50","TK2","TMEM70"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SHORT_DIGIT":{"collection":"C5:HPO","systematicName":"M37961","pmid":"","exactSource":"HP:0011927","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011927","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_DIGIT","geneSymbols":["ABCA12","ABCC9","ACAN","ACP5","ACTL6B","ACVR1","ADA","ADA2","ADAMTS10","ADAMTS17","ADAMTS2","ADNP","AFF4","AHSG","AIFM1","AKT1","ALG6","ALG8","ALMS1","ALOX12B","ALOXE3","ALX1","ALX3","ANTXR2","AP1G1","APC","APC2","ARHGAP31","ARID1A","ARID1B","ARID2","ARL6","ARSL","ARX","ASAH1","ASPH","ASXL1","ATP6V1B2","ATP7A","ATRX","B3GLCT","BAP1","BBIP1","BBS1","BBS4","BBS5","BBS9","BCOR","BCR","BGN","BHLHA9","BICRA","BMP2","BMP4","BMPR1B","BPNT2","BRAF","BRCA2","BRD4","BRF1","BRIP1","C12orf57","CAMK2G","CANT1","CASK","CASZ1","CBFB","CBL","CCDC22","CCDC28B","CCDC32","CDC42BPB","CDH11","CDKL5","CDKN1C","CEP120","CEP152","CEP55","CHD7","CHN1","CHRNA1","CHRNA7","CHRND","CHRNG","CHST11","CHST3","CHSY1","CILK1","CITED2","CLCN7","CNOT2","COG4","COL10A1","COL11A1","COL11A2","COL2A1","COMP","COX4I1","CPLANE1","CPLX1","CREBBP","CRIPT","CRKL","CSGALNACT1","CSNK2A1","CSPP1","CTBP1","CTSK","CUL4B","CUL7","CWC27","DBH","DCLRE1C","DCPS","DDR2","DDX3X","DEAF1","DHCR7","DHODH","DLK1","DLL4","DMXL2","DNMT3A","DOCK6","DONSON","DPF2","DPH2","DPYSL5","DVL1","DVL3","DYM","DYNC2H1","DYNC2I1","DYNC2I2","DYNC2LI1","DYNLT2B","DYRK1A","EDA","EDA2R","EFNB1","EHMT1","EIF2AK3","EIF4A3","EOGT","EP300","EPB41L1","ERF","ESCO2","EVC","EVC2","EXOSC2","EXT1","EXTL3","FAM111A","FAM149B1","FAM20C","FANCA","FANCC","FANCD2","FANCE","FANCF","FANCI","FBN1","FBXO28","FBXW11","FGD1","FGF10","FGF9","FGFR1","FGFR2","FGFR3","FGFRL1","FIG4","FLI1","FLII","FLNA","FLNB","FLT4","FN1","FTO","FTSJ1","FZD2","GABRD","GATA1","GATA4","GATA5","GATA6","GDF1","GDF5","GDF6","GGCX","GHR","GJA1","GJA5","GJA8","GJB3","GJB4","GLI1","GLI3","GMNN","GNAO1","GNAS","GNAS-AS1","GNB2","GPC3","GPC4","GPX4","GRB10","GRIN1","GRIP1","GRM7","HBA1","HBA2","HDAC4","HDAC8","HEATR3","HESX1","HHAT","HMGA2","HNRNPR","HOXA13","HOXD13","HRAS","HS2ST1","HSPG2","HUWE1","IARS2","IFT122","IFT140","IFT172","IFT43","IFT52","IFT57","IFT80","IFT81","IGF1R","IGF2","IHH","IL2RG","IL7R","INPP5K","INPPL1","INTU","IQSEC2","IRX5","ITGB6","JAG1","KAT6A","KAT6B","KCNA1","KCNAB2","KCNH1","KCNJ2","KCNJ8","KCNK4","KCNN3","KDM1A","KDM5C","KDM6A","KDR","KDSR","KIAA0586","KIAA0753","KIF15","KIF26A","KIF7","KLF13","KLLN","KMT2A","KMT2D","KNSTRN","KRAS","LAMA5","LBR","LETM1","LHX3","LHX4","LIFR","LIG4","LMNA","LMNB2","LONP1","LRP4","LSS","LTBP1","LTBP2","LTBP3","LUZP1","LZTFL1","LZTR1","MACROH2A1","MAF","MAFB","MAGEL2","MAP2K1","MAP3K7","MAPK1","MAPK8IP3","MARS1","MASP1","MBD5","MBTPS1","MCTP2","MECOM","MED12","MEG3","MEGF8","MEIS2","MGAT2","MGP","MIA3","MIR140","MIR17HG","MKKS","MMP23B","MRAS","MRPS16","MSX2","MTOR","MYCN","MYMK","MYMX","MYSM1","NBAS","NEK1","NELFA","NEPRO","NEUROD2","NEXMIF","NFIX","NIN","NIPBL","NKX2-5","NKX2-6","NLRP3","NOG","NOTCH1","NOTCH2","NPR2","NRAS","NSD2","NSUN2","NXN","OBSL1","OFD1","PAH","PALB2","PAPSS2","PAX3","PCNT","PCYT1A","PDE3A","PDE4D","PDE6D","PDGFRB","PDPN","PGAP2","PGAP3","PGM3","PHF6","PIGB","PIGF","PIGG","PIGK","PIGL","PIGN","PIGO","PIGP","PIGQ","PIGS","PIGV","PIGW","PIGY","PIK3C2A","PIK3CA","PIK3CD","PIK3R1","PITX1","PKDCC","PLAG1","PLCB3","PLXND1","PNKP","PNPLA6","POC1A","POGZ","POLA1","POMP","POP1","POR","PORCN","POU1F1","PPM1D","PPP1CB","PPP3CA","PRDM16","PRKACA","PRKACB","PRKAR1A","PRKAR1B","PRKCZ","PRKG2","PRMT7","PROP1","PSMD12","PTCH1","PTCH2","PTDSS1","PTEN","PTH1R","PTHLH","PTPN11","PUF60","RAB23","RAB3GAP2","RAC1","RAD21","RAD51C","RAF1","RAG1","RAG2","RAI1","RASA2","RB1","RBBP8","RBM8A","RBPJ","RDH11","RECQL4","RERE","REV3L","RHOA","RIN2","RIPK4","RIT1","RLIM","RMRP","RNU4ATAC","ROBO1","ROR2","RPL10","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS6KA3","RPS7","RRAS","RRAS2","RSPRY1","RTL1","RUNX2","RYR3","SALL4","SCN1B","SCN2A","SCNM1","SCUBE3","SDHB","SDHC","SDHD","SEC23B","SEMA3E","SETBP1","SF3B4","SH3PXD2B","SHOC2","SHOX","SIK1","SIK3","SIL1","SIN3A","SKI","SLC25A22","SLC25A24","SLC26A2","SLC2A1","SLC32A1","SLC35C1","SLC35D1","SLURP1","SLX4","SMAD4","SMARCA2","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCD2","SMARCE1","SMC1A","SMC3","SMG9","SNRPN","SNX14","SOS1","SOS2","SOX11","SOX4","SOX9","SPART","SPECC1L","SPEN","SPRED2","SRCAP","STAMBP","STX16","SUFU","SVBP","TAF1","TASP1","TBC1D24","TBL1XR1","TBX1","TBX15","TBX22","TBX3","TBX5","TCF12","TCTN3","TELO2","TFAP2A","TFAP2B","TGDS","TGFBR2","TLK2","TMEM216","TMEM67","TNNT3","TONSL","TOPORS","TPR","TRIM8","TRIO","TRIP11","TRPM3","TRPS1","TRPV4","TSR2","TTC21B","TWIST1","TWIST2","UBE2T","UBE4B","UPF3B","USF3","VAC14","VPS35L","WAC","WASF1","WASHC5","WDR11","WDR19","WDR35","WIPI2","WNT4","WNT5A","YY1AP1","ZBTB20","ZDHHC9","ZFPM2","ZIC1","ZMIZ1","ZMPSTE24","ZMYM2","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_SUPERIOR_CEREBELLAR_PEDUNCLE_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M41426","pmid":"","exactSource":"HP:0011932","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011932","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SUPERIOR_CEREBELLAR_PEDUNCLE_MORPHOLOGY","geneSymbols":["AHI1","ARL3","CEP290","CLCN3","CSPP1","FLI1","INPP5E","KIAA0586","LAMA1","NPHP1","TMEM216","TMEM67"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ELONGATED_SUPERIOR_CEREBELLAR_PEDUNCLE":{"collection":"C5:HPO","systematicName":"M37963","pmid":"","exactSource":"HP:0011933","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011933","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELONGATED_SUPERIOR_CEREBELLAR_PEDUNCLE","geneSymbols":["AHI1","ARL3","CLCN3","CSPP1","INPP5E","KIAA0586","LAMA1","NPHP1","TMEM216","TMEM67"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPOPLASTIC_FIFTH_TOENAIL":{"collection":"C5:HPO","systematicName":"M37964","pmid":"","exactSource":"HP:0011937","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011937","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASTIC_FIFTH_TOENAIL","geneSymbols":["ARID1A","ARID1B","ARID2","DPF2","HOXA13","KRT5","PPP2R5D","SET","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SOX11","SOX4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_3_4_FINGER_CUTANEOUS_SYNDACTYLY":{"collection":"C5:HPO","systematicName":"M46216","pmid":"","exactSource":"HP:0011939","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011939","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_3_4_FINGER_CUTANEOUS_SYNDACTYLY","geneSymbols":["CACNA1C","GJA1","GLI3","H4C9","KAT6A","KCTD1","TP63"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RESPIRATORY_TRACT_INFECTION":{"collection":"C5:HPO","systematicName":"M37965","pmid":"","exactSource":"HP:0011947","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011947","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RESPIRATORY_TRACT_INFECTION","geneSymbols":["AARS1","AASS","ABCA12","ABCA3","ACADVL","ACP5","ACTA1","ACTC1","ACTN4","ADA","ADA2","ADAMTS3","ADNP","AFF4","AGA","AGR2","AGRN","AICDA","AK2","ALB","ALDH18A1","ALG12","ALMS1","ALOX12B","ALOXE3","ALPL","ANKFY1","ANLN","AP3B1","AP3D1","APOL1","ARHGAP24","ARHGDIA","ARHGEF1","ARID1A","ARID1B","ARID2","ARPC1B","ARSB","ARSL","ASAH1","ASPRV1","ASXL1","ATM","ATP6V0A1","ATP6V0A2","ATP6V1B2","B2M","B3GALT6","BACH2","BAZ1B","BCL10","BCL7B","BCR","BIRC3","BLM","BLNK","BTK","BUD23","C1QB","C3","C4B","CACNA1B","CACNA1C","CARD10","CARD11","CARMIL2","CARS1","CASP8","CAVIN1","CCBE1","CCDC103","CCDC22","CCDC39","CCDC40","CCDC65","CCNO","CD19","CD247","CD27","CD2AP","CD3D","CD3E","CD3G","CD4","CD40LG","CD55","CD79A","CD79B","CD81","CD8A","CDCA7","CDON","CEACAM3","CEACAM6","CFAP221","CFAP298","CFAP300","CFAP410","CFAP74","CFB","CFI","CFTR","CHAMP1","CHAT","CHD7","CHRM3","CIITA","CITED2","CLCA4","CLCN7","CLEC7A","CLIP2","CLPB","COG4","COG6","COL11A2","COL13A1","COL4A3","COL4A5","COL4A6","COL5A1","COL5A2","COL6A1","COL6A2","COL6A3","COLQ","COQ8B","CORO1A","CPLX1","CR2","CRB2","CREBBP","CRKL","CRLF1","CSF2RA","CSF2RB","CSPP1","CTBP1","CTC1","CTCF","CTLA4","CTNNBL1","CTPS1","CTSC","CXCR4","CYBA","CYBB","CYBC1","CYP4F22","DAAM2","DCLRE1C","DCTN4","DDR2","DDX59","DIP2B","DISP1","DKC1","DLL1","DLL3","DNAAF1","DNAAF11","DNAAF2","DNAAF3","DNAAF4","DNAAF5","DNAAF6","DNAH1","DNAH11","DNAH5","DNAH7","DNAH9","DNAI1","DNAI2","DNAJB13","DNAJC21","DNAJC30","DNAL1","DNMT3B","DOCK2","DOCK8","DPF2","DPM2","DPP9","DPYSL5","DRC1","DSG1","DYM","DYNC2I2","DZIP1L","ECM1","EDA","EDARADD","EDNRA","EFEMP2","EFL1","EGFR","EHMT1","EIF4H","ELANE","ELF4","ELN","ELP1","EMP2","EP300","EPG5","EPM2A","ERCC2","ERCC3","ERCC6","ERF","EXOSC9","EXTL3","FANCF","FAT4","FBLN5","FBXO28","FBXW7","FCGR2A","FCGR3A","FCGR3B","FCHO1","FCN3","FCSK","FGF8","FGFR1","FIG4","FKBP6","FLI1","FLNA","FLNC","FMO3","FOCAD","FOXH1","FOXJ1","FOXN1","FOXP1","FOXP2","FOXP3","FUCA1","FUT8","G6PC3","GAA","GALNS","GAPVD1","GAS1","GAS2L2","GAS8","GATA2","GATA4","GATA6","GBA1","GCLC","GEMIN4","GFI1","GFM2","GIPC1","GLB1","GLI2","GLI3","GLUL","GMNN","GNPTAB","GNS","GORAB","GRHL3","GRIA1","GSN","GSTM3","GTF2E2","GTF2H5","GTF2I","GTF2IRD1","GTF2IRD2","GUSB","H4C3","H4C5","HACD1","HCK","HELLS","HERC2","HFE","HGSNAT","HK1","HLA-B","HLA-DPA1","HLA-DPB1","HLA-DQA1","HLA-DQB1","HLA-DRB1","HMOX1","HPS6","HYDIN","HYOU1","ICOS","IDH1","IDS","IDUA","IER3IP1","IFIH1","IFNG","IFNGR1","IFT122","IFT140","IGBP1","IGHG2","IGHM","IGKC","IGLL1","IKBKB","IKBKG","IKZF1","IL10RB","IL12RB1","IL17F","IL17RA","IL17RC","IL21","IL21R","IL2RA","IL2RB","IL2RG","IL6R","IL6ST","IL7R","INF2","INPPL1","IRAK4","IRF2BP2","IRF8","ITCH","ITGA3","ITGA7","IVNS1ABP","JAGN1","JAK3","KANSL1","KAT6A","KAT6B","KATNIP","KCNJ6","KCNN4","KDM5C","KDM6A","KIAA0586","KIF1A","KIF20A","KMT2D","KNSTRN","KPTN","KRAS","KRT5","LAMA2","LAMA3","LAMB2","LAMB3","LAMC2","LAMTOR2","LAT","LCK","LEP","LEPR","LETM1","LIG1","LIG4","LIMK1","LIPN","LMNB1","LONP1","LRBA","LRIF1","LRP12","LRRC56","LRRC8A","LTBP1","LTBP3","LTBP4","LYST","MAGEL2","MAGI2","MAGT1","MALT1","MAN2B1","MANBA","MAP3K20","MAPK1","MARS2","MASP2","MBTPS2","MCIDAS","MCM4","MDFIC","MDM4","MECP2","MED25","MEGF10","MESP2","METTL27","MGAT2","MGP","MID1","MIF","MIR140","MKRN3","MLXIPL","MPLKIP","MS4A1","MSN","MTHFD1","MTM1","MYH3","MYH6","MYL2","MYL9","MYO1E","MYO1H","MYO5A","MYO9A","MYOD1","MYPN","MYSM1","NADK2","NAE1","NAGLU","NBN","NCF1","NCF2","NCF4","NDN","NDUFA6","NDUFC2","NECTIN1","NEK10","NELFA","NEPRO","NEU1","NFASC","NFE2L2","NFIX","NFKB1","NFKB2","NFKBIA","NGLY1","NHLRC1","NHLRC2","NHP2","NIPAL4","NIPBL","NKX2-1","NKX2-5","NME5","NME8","NODAL","NOP10","NOS1","NOTCH2","NOTCH2NLC","NPAP1","NPHS1","NPHS2","NPM1","NRAS","NSD2","NTRK1","NUP107","NUP133","NUP160","NUP205","NUP214","NUP37","NUP85","NUP93","NXN","OAS1","OCA2","OCRL","ODAD1","ODAD2","ODAD3","ODAD4","OFD1","ORC6","OSTM1","P4HA2","P4HTM","PAFAH1B1","PAK2","PANK2","PARN","PAX2","PCGF2","PCNT","PDHA1","PEPD","PET117","PEX13","PEX5","PGM3","PHIP","PIGA","PIGG","PIGN","PIK3CD","PIK3CG","PIK3R1","PKHD1","PKP1","PLA2G6","PLCE1","PLCG2","PLCH1","PLEC","PLG","PLOD1","PLP1","PLVAP","PMM2","PNP","POLA1","POLE","POLR2A","POLR3A","PPP1R21","PRKCD","PRKDC","PRPS1","PRTN3","PSAP","PSMB8","PTCD3","PTCH1","PTEN","PTPN22","PTPRO","PURA","PWAR1","PWRN1","PYROXD1","RAB3GAP2","RAC1","RAC2","RAG1","RAG2","RANBP2","RAPSN","RASGRP1","REEP1","REL","RELB","RFC2","RFT1","RFX5","RFX7","RFXANK","RFXAP","RILPL1","RIPK1","RMRP","RNF113A","RNF125","RNF168","RNU4ATAC","ROR2","RPGR","RSPH1","RSPH3","RSPH4A","RSPH9","RTEL1","RUNX2","RYR1","SAMD9","SAMD9L","SASH3","SATB1","SBDS","SCN10A","SCN11A","SCN9A","SCNN1A","SCNN1B","SCNN1G","SDCCAG8","SDHD","SDR9C7","SELENON","SERPINA1","SERPINH1","SETBP1","SFTPB","SFTPC","SGCG","SGSH","SH2D1A","SH3KBP1","SHH","SHROOM4","SIAH1","SIK1","SIM1","SIX3","SLC11A1","SLC12A6","SLC18A3","SLC1A4","SLC25A1","SLC25A22","SLC25A24","SLC26A2","SLC26A9","SLC29A3","SLC34A2","SLC35A1","SLC35C1","SLC37A4","SLC39A7","SLC41A1","SLC46A1","SLC52A3","SLC5A7","SLC6A14","SLC9A3","SMARCA2","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCD2","SMARCE1","SMC1A","SMN1","SMPD1","SNAP25","SNAP29","SNORD115-1","SNORD116-1","SNRPN","SNX10","SOCS1","SOX11","SOX4","SOX9","SP110","SPAG1","SPEF2","SPI1","SPINK5","SPTBN4","SREBF1","SRP19","SRP54","STAG2","STAT1","STAT3","STIL","STING1","STK36","STK4","STX1A","STX3","STXBP2","SUCLG1","SULT2B1","SYK","SYT2","TAF1","TAFAZZIN","TAOK1","TAP1","TAP2","TAPBP","TARS1","TASP1","TBC1D23","TBC1D24","TBC1D8B","TBCD","TBCE","TBL2","TBX1","TBX20","TBX6","TCEAL1","TCF3","TCIRG1","TCTN3","TDGF1","TECPR2","TERC","TERT","TET2","TFG","TFRC","TGFB1","TGIF1","TGM1","TIMM8A","TIMMDC1","TINF2","TK2","TLL1","TMCO1","TMEM270","TMEM94","TNFRSF11A","TNFRSF13B","TNFRSF13C","TNFRSF1A","TNFRSF9","TNFSF11","TNFSF12","TNNI3","TNNT2","TOM1","TONSL","TP73","TPM2","TPM3","TPP2","TRAC","TRAF3IP1","TRAF3IP2","TRAIP","TREX1","TRIM37","TRIP11","TRIP4","TRPC6","TRPS1","TSC1","TSC2","TTC12","TTC26","TTC7A","TYK2","TYMS","UBA2","UBB","UBE2A","UFC1","UGP2","UMPS","UNC119","UNG","UQCRH","USB1","USP26","USP9X","VAMP1","VARS1","VPS33A","VPS35L","VPS37D","VPS51","WAC","WAS","WASHC5","WDR1","WDR19","WDR35","WIPF1","WRAP53","WT1","XIAP","ZAP70","ZBTB24","ZBTB7A","ZIC2","ZMYND10","ZNF341","ZNF668","ZNF699","ZNFX1","ZNHIT3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RECURRENT_ACUTE_RESPIRATORY_TRACT_INFECTION":{"collection":"C5:HPO","systematicName":"M37966","pmid":"","exactSource":"HP:0011948","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011948","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_ACUTE_RESPIRATORY_TRACT_INFECTION","geneSymbols":["ALDH18A1","ELN","FBLN5","GBA1","PLCG2","PLEC","REEP1","SDCCAG8","SLC35C1","TAP1","TAP2","TAPBP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ACUTE_INFECTIOUS_PNEUMONIA":{"collection":"C5:HPO","systematicName":"M37967","pmid":"","exactSource":"HP:0011949","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011949","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACUTE_INFECTIOUS_PNEUMONIA","geneSymbols":["CFTR","CSF2RA","CSF2RB","SCNN1A","SCNN1B","SCNN1G"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ASPIRATION_PNEUMONIA":{"collection":"C5:HPO","systematicName":"M37969","pmid":"","exactSource":"HP:0011951","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011951","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ASPIRATION_PNEUMONIA","geneSymbols":["ACTA1","AFF4","ARID1A","ARID1B","ARID2","ASAH1","ATP6V0A1","ATP6V1B2","CDON","COL4A5","COL4A6","CRLF1","CSPP1","DISP1","DLL1","DPF2","EPM2A","FGF8","FGFR1","FIG4","FOXH1","GAS1","GBA1","GIPC1","GLB1","GLI2","GRHL3","HACD1","HLA-DQA1","HLA-DQB1","IGBP1","ITGA7","KAT6A","KDM6A","KIAA0586","KMT2D","KNSTRN","LMNB1","LONP1","LRIF1","LRP12","MAP3K20","MARS2","MID1","MYL2","MYO1H","NADK2","NDUFA6","NFIX","NHLRC1","NODAL","NOS1","NOTCH2NLC","NTRK1","PAFAH1B1","PANK2","PDHA1","PIGA","PIGN","PIK3CD","PLA2G6","PLCH1","PMM2","PTCD3","PTCH1","PURA","RILPL1","SAMD9","SDHD","SELENON","SHH","SIX3","SLC25A24","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SMC1A","SNAP29","SOX11","SOX4","SP110","STAG2","STIL","TAF1","TBC1D24","TDGF1","TFG","TGIF1","TIMM8A","TPM2","TPM3","UBB","ZIC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RETINAL_PERFORATION":{"collection":"C5:HPO","systematicName":"M37970","pmid":"","exactSource":"HP:0011958","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011958","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETINAL_PERFORATION","geneSymbols":["COL2A1","CTNNB1","FZD4","GUCA1A","GUCY2D","HLA-A","LRIT3","LRP5","NDP","PRPH2","ZNF408"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SUBSTANTIA_NIGRA_GLIOSIS":{"collection":"C5:HPO","systematicName":"M37971","pmid":"","exactSource":"HP:0011960","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011960","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUBSTANTIA_NIGRA_GLIOSIS","geneSymbols":["ADH1C","ATXN2","ATXN3","ATXN8OS","FBXO7","GBA1","GLUD2","LRRK2","MAPT","MT-TT","NR4A2","PRKN","SNCA","SNCAIP","TBP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_OBSTRUCTIVE_AZOOSPERMIA":{"collection":"C5:HPO","systematicName":"M37973","pmid":"","exactSource":"HP:0011962","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011962","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OBSTRUCTIVE_AZOOSPERMIA","geneSymbols":["ADGRG2","CATIP","CCDC34","CFTR","CLDN2","CT55","DNAH10","DNHD1","FANCM","FBXO43","KLHL10","MEIOB","MOV10L1","MSH5","NANOS1","NR5A1","PDHA2","PNLDC1","RNF212","RPL10L","SHOC1","SOHLH1","SPAG17","STAG3","SYCE1","SYCP3","TAF4B","TDRD9","TERB1","TERB2","TEX11","TEX14","TEX15","XRCC2","ZMYND15"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CIRCULATING_CITRULLINE_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M37974","pmid":"","exactSource":"HP:0011965","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011965","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_CITRULLINE_CONCENTRATION","geneSymbols":["AASS","ALDH18A1","ASS1","ATP5F1A","CA5A","CPS1","MRM2","MT-ATP6","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND5","MT-ND6","MT-TK","MT-TL1","MT-TV","MT-TW","OTC","PCK1","SLC25A13","SLC25A15","SLC7A7"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DECREASED_CIRCULATING_COPPER_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M41427","pmid":"","exactSource":"HP:0011967","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011967","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_CIRCULATING_COPPER_CONCENTRATION","geneSymbols":["AP1B1","AP1S1","ATP6AP1","ATP7A","COG2","CP","SLC33A1","TMPRSS6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FEEDING_DIFFICULTIES":{"collection":"C5:HPO","systematicName":"M37975","pmid":"","exactSource":"HP:0011968","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011968","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FEEDING_DIFFICULTIES","geneSymbols":["AARS1","AARS2","AASS","ABAT","ABCC6","ABCC8","ABCD1","ABCD4","ACADS","ACADVL","ACSF3","ACTA1","ACTB","ACTG1","ACTL6B","ACTN2","ACY1","ADA2","ADAMTS3","ADAR","ADARB1","ADAT3","ADCY6","ADGRG1","ADNP","AFF4","AGO1","AGO2","AGRN","AGTPBP1","AHDC1","AHI1","AIFM1","AIMP2","ALDH18A1","ALDH4A1","ALDH6A1","ALDH7A1","ALG11","ALG12","ALG13","ALG14","ALG2","ALG3","ALG6","ALG8","ALS2","ANAPC1","ANK1","ANKRD11","ANKRD17","ANO1","ANTXR2","AP1S2","AP3B2","AP3D1","APC2","AQP2","ARCN1","ARHGAP29","ARHGEF38","ARID1A","ARID1B","ARID2","ARL13B","ARL3","ARMC9","ARSA","ARSL","ARV1","ARVCF","ARX","ASAH1","ASH1L","ASL","ASNS","ASPA","ASXL1","ASXL2","ASXL3","ATAD3A","ATG7","ATP10A","ATP1A2","ATP1A3","ATP5F1A","ATP6V0A1","ATP6V0A2","ATP6V1A","ATP6V1B2","ATP6V1E1","ATP7A","ATPAF2","ATRX","ATXN7","AUTS2","AVPR2","B3GALT6","B3GLCT","B9D1","B9D2","BAP1","BCKDHA","BCKDHB","BCL11B","BCOR","BCS1L","BICD2","BICRA","BIN1","BLM","BMP4","BPTF","BRAF","BRAT1","BRD4","BRPF1","BSND","BTD","BUB1B","C2CD3","CA12","CACNA1A","CACNA1B","CACNA1I","CACNA1S","CACNA2D1","CAMK2B","CAMLG","CAMSAP1","CARS1","CARS2","CASK","CASR","CASZ1","CAV1","CAVIN1","CBL","CBY1","CC2D2A","CCDC22","CCDC32","CCDC47","CCDC88A","CDC42BPB","CDC45","CDC6","CDH1","CDK13","CDK19","CDK8","CDKL5","CDKN1C","CDON","CDT1","CELF2","CENPT","CEP104","CEP120","CEP41","CFL2","CHAMP1","CHAT","CHD3","CHD7","CHD8","CHKA","CHMP1A","CHRNA1","CHRNB1","CHRND","CHRNE","CISD2","CLCF1","CLCN3","CLCN4","CLCN6","CLCNKA","CLCNKB","CLDN16","CLEC7A","CLN8","CLP1","CLPB","CLTC","CLTCL1","CNKSR2","CNOT2","CNOT3","CNP","CNTN1","CNTNAP2","COBLL1","COG1","COG4","COG5","COG7","COL13A1","COL1A1","COL25A1","COL2A1","COL4A5","COL4A6","COL6A1","COL6A2","COL6A3","COL7A1","COLEC10","COLQ","COMT","COQ7","COQ9","COX10","COX11","COX15","COX16","COX6B1","COX7B","COX8A","CPLANE1","CPLX1","CPSF3","CPT1A","CPT2","CREBBP","CRLF1","CRLS1","CSNK2A1","CSPP1","CTBP1","CTCF","CTNNB1","CTNS","CUL3","CWC27","CYFIP2","CYP11A1","CYP11B2","DALRD3","DBT","DCHS1","DCX","DDC","DDX3X","DDX59","DDX6","DEAF1","DEF6","DEGS1","DGUOK","DHCR24","DHCR7","DHDDS","DHFR","DHX30","DISP1","DLAT","DLD","DLEC1","DLG1","DLK1","DLL1","DLX4","DMPK","DNAJC21","DNM1","DNM1L","DOHH","DPAGT1","DPF2","DPH5","DPM1","DPM2","DPP9","DPYD","DPYS","DPYSL5","DST","DTYMK","DUOX2","DUOXA2","DYNC2H1","DYNC2I1","DYNC2I2","DYNC2LI1","DYRK1A","DZIP1L","EARS2","ECHS1","EDEM3","EDN1","EED","EEF1A2","EFTUD2","EHMT1","EIF4A3","EIF5A","ELN","ELP1","EMG1","EN1","ENPP1","EP300","EPB41L1","EPG5","EPM2A","EPRS1","ERCC1","ERCC2","ERCC5","ERCC6","ERCC8","ERGIC1","ETHE1","EXOSC3","EXOSC5","EXOSC8","EXOSC9","EXT2","EZH2","FAM149B1","FANCL","FARS2","FARSA","FARSB","FAT4","FBLN5","FBN1","FBP2","FBXO28","FBXW7","FCSK","FDFT1","FGF10","FGF12","FGF13","FGF8","FGFR1","FGFR2","FGFR3","FIG4","FKBP14","FKRP","FKTN","FLAD1","FLCN","FLI1","FLII","FLNA","FOCAD","FOXE1","FOXG1","FOXH1","FOXP1","FOXP2","FOXP3","FOXRED1","FRA10AC1","FRMD5","FUS","FUT8","FZD2","FZR1","GAA","GABBR2","GABRA2","GABRA5","GABRB2","GABRD","GABRG2","GALC","GALK1","GALNT2","GALT","GAS1","GATA6","GATAD2B","GBA1","GCDH","GEMIN4","GET3","GFM1","GFM2","GFPT1","GGPS1","GLB1","GLE1","GLI2","GLRA2","GLRX5","GMNN","GMPPA","GMPPB","GNAI1","GNAI3","GNB1","GNB2","GNPTAB","GNS","GOSR2","GOT2","GP1BB","GPHN","GPT2","GRB10","GRHL3","GRIA1","GRIA4","GRIN1","GRIN2B","GRIN2D","GRM7","GSC","GSX2","GTF2H5","GTPBP3","GUF1","H1-4","H19","H4C3","H4C5","H4C9","HACD1","HADH","HADHA","HADHB","HBB","HCCS","HCN1","HDAC4","HDAC8","HECW2","HERC2","HESX1","HIBCH","HIKESHI","HIRA","HIVEP2","HK1","HLCS","HMGA2","HNF1A","HNF1B","HNRNPH1","HNRNPH2","HNRNPK","HNRNPR","HOXB1","HPCA","HRAS","HS2ST1","HS6ST2","HSD17B4","HSPD1","HSPG2","HTRA2","HTT","HYLS1","IARS1","IBA57","IDH1","IDUA","IER3IP1","IFIH1","IFT140","IFT172","IFT74","IFT80","IGF2","IKBKG","IL17F","IL17RA","IL17RC","IL6ST","INPP5E","IPO8","IQSEC2","IREB2","IRF6","ISCA1","ITCH","ITGA7","ITPA","IYD","JMJD1C","KANSL1","KAT6A","KAT6B","KAT8","KATNB1","KATNIP","KBTBD13","KCNA2","KCNAB2","KCNB1","KCNC2","KCNJ11","KCNK4","KCNK9","KCNQ2","KCNQ5","KDM1A","KDM3B","KDM5B","KDM6A","KIAA0586","KIAA0753","KIF15","KIF1A","KIF5A","KIF7","KLHL40","KLHL41","KLHL7","KMT2A","KMT2B","KMT2D","KMT2E","KMT5B","KNSTRN","KRAS","KRT14","KRT16","KRT17","KRT5","KRT6A","KRT6B","LAGE3","LAMA2","LAMB2","LARGE1","LBX1","LHX1","LHX3","LHX4","LIAS","LIFR","LINGO1","LIPT2","LMBRD1","LMNA","LMNB1","LMOD3","LONP1","LRP4","LRP5","LRPPRC","LTBP1","LTBP4","LUZP1","LYRM4","LZTR1","MACF1","MAGEL2","MAMLD1","MAP2K1","MAP2K2","MAP3K20","MAP3K7","MARS1","MARS2","MBD5","MBTPS2","MCCC1","MCCC2","MDH2","MECP2","MECR","MED12","MED12L","MED17","MED23","MED27","MEF2C","MEG3","MEIS2","MFF","MGAT2","MICOS13","MID1","MIPEP","MKRN3","MKS1","MLXIPL","MMAA","MMAB","MMACHC","MMP23B","MMUT","MN1","MOCS1","MOCS2","MOGS","MPDU1","MRAS","MRPL3","MRPS16","MRPS34","MSL3","MSX1","MT-ND1","MT-ND2","MT-ND3","MT-TE","MT-TL1","MTHFR","MTHFS","MTM1","MTO1","MTOR","MTR","MTRFR","MTRR","MYH3","MYH8","MYL1","MYL2","MYMK","MYO1H","MYO9A","MYPN","NAA10","NAA15","NAA20","NACC1","NADK2","NAGS","NALCN","NAPB","NARS2","NCAPG2","NDE1","NDN","NDUFA1","NDUFA11","NDUFA2","NDUFA6","NDUFAF1","NDUFAF2","NDUFAF3","NDUFAF4","NDUFAF5","NDUFAF8","NDUFB10","NDUFB11","NDUFB3","NDUFB9","NDUFS1","NDUFS2","NDUFS3","NDUFS4","NDUFS6","NDUFS7","NDUFS8","NDUFV1","NDUFV2","NEB","NECAP1","NECTIN1","NEDD4L","NEPRO","NEXMIF","NFASC","NFE2L2","NFIX","NFKBIA","NFU1","NHLRC1","NHLRC2","NIPBL","NKX2-1","NKX2-5","NLRC4","NODAL","NONO","NOVA2","NPAP1","NPHP1","NR2F1","NR3C2","NR4A2","NRAS","NRCAM","NRXN1","NSD1","NSD2","NSMCE3","NTNG1","NTRK1","NTRK2","NUBPL","NUDT2","NUP214","NUS1","OCA2","OCRL","ODC1","OFD1","OPA1","ORC1","ORC4","ORC6","OTUD5","OTUD6B","OTX2","PACS1","PACS2","PAFAH1B1","PANK2","PARS2","PAX2","PAX8","PBX1","PCCA","PCCB","PCGF2","PDE10A","PDE6D","PDGFRA","PDHA1","PDP1","PDPN","PDSS2","PET100","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PGAP1","PGAP2","PGAP3","PHF6","PHGDH","PHIP","PHOX2B","PI4KA","PIBF1","PIEZO2","PIGB","PIGG","PIGL","PIGN","PIGO","PIGP","PIGQ","PIGS","PIGT","PIGU","PIGV","PIGW","PIGY","PIK3CD","PKHD1","PLA2G6","PLAA","PLAG1","PLCB4","PLCH1","PLP1","PLPBP","PLVAP","PLXND1","PMM2","PMPCB","PNPO","PNPT1","POGZ","POLA1","POLE","POLR1B","POLR2A","POLR3A","POLR3K","POMK","POMT1","POMT2","POT1","POU1F1","PPFIBP1","PPM1D","PPP1CB","PPP1R21","PPP2CA","PPP2R1A","PPP3CA","PQBP1","PRDM16","PRDX1","PREPL","PRIM1","PRKAG2","PRKCSH","PRKCZ","PRKD1","PRKG2","PRMT7","PROP1","PRORP","PRPS1","PRUNE1","PSAP","PSAT1","PSMC1","PSMD12","PSPH","PTCD3","PTCH1","PTPN11","PTPN23","PTS","PUF60","PURA","PWAR1","PWRN1","PYCR2","QRICH1","RAB11B","RAB3GAP1","RAB3GAP2","RAC1","RAC3","RAD21","RAF1","RAI1","RALGAPA1","RAPSN","RARS1","RARS2","RASA2","RECQL4","RELN","RERE","RETREG1","REV3L","RFT1","RHBDF2","RIC1","RIT1","RLIM","RMND1","RNASEH1","RNASEH2A","RNF13","RNF2","RNF6","RNU4ATAC","RNU7-1","RPGRIP1L","RPL10","RPS28","RPS6KA3","RRAS","RRAS2","RREB1","RRM2B","RTL1","RYR1","SAMHD1","SARS2","SATB2","SCN1A","SCN3A","SCN4A","SCN8A","SCN9A","SCNN1A","SCNN1B","SCNN1G","SCO1","SCO2","SCYL2","SDHA","SDHAF1","SDHB","SDHD","SEC24C","SEC63","SELENON","SEMA3E","SEPSECS","SERAC1","SET","SETBP1","SETD1A","SETD2","SETD5","SH2B1","SH3BP2","SHANK3","SHH","SHOC2","SHQ1","SIGMAR1","SIK1","SIK3","SIM1","SIN3A","SIX3","SKI","SLC12A2","SLC12A6","SLC13A5","SLC16A1","SLC16A2","SLC18A3","SLC1A2","SLC1A4","SLC25A1","SLC25A15","SLC25A19","SLC25A22","SLC25A24","SLC25A46","SLC26A4","SLC30A9","SLC35A2","SLC35B2","SLC38A3","SLC46A1","SLC52A1","SLC5A5","SLC5A6","SLC5A7","SLC6A3","SLC6A8","SLC7A7","SLC9A6","SLF2","SLITRK2","SMARCA2","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SMC1A","SMC3","SMPD1","SNAP25","SNIP1","SNORD115-1","SNORD116-1","SNRPB","SNRPN","SNX10","SON","SOS1","SOS2","SOX11","SOX4","SOX5","SOX9","SPATA5","SPEN","SPG11","SPOP","SPRED2","SPTBN1","SPTBN4","SPTLC1","SRCAP","SRP54","SRPX2","SSR4","ST3GAL5","STAC3","STAG1","STAG2","STIL","STRADA","STT3A","STT3B","STX3","SUCLA2","SUCLG1","SUFU","SUPT16H","SUZ12","SYNE1","SYNGAP1","SYNJ1","SYT1","SYT2","SZT2","TALDO1","TANGO2","TAOK1","TASP1","TBC1D20","TBC1D24","TBCD","TBCK","TBL1XR1","TBX1","TCEAL1","TCF20","TCF4","TCTN1","TCTN2","TCTN3","TDGF1","TELO2","TET3","TFG","TG","TGFB1","TGFBR2","TGIF1","TH","THOC2","TIMM22","TIMMDC1","TK2","TLK2","TMCO1","TMEM106B","TMEM126B","TMEM216","TMEM218","TMEM237","TMEM67","TNNT1","TNPO2","TOE1","TOGARAM1","TOM1","TOP3A","TOPORS","TOR1A","TP53RK","TP63","TPM2","TPM3","TPO","TPR","TRAF3IP2","TRAF7","TRAK1","TRAPPC11","TRAPPC12","TRAPPC4","TREX1","TRIO","TRIP4","TRMT10C","TRMT5","TRMU","TRPV6","TRRAP","TSEN15","TSEN2","TSEN34","TSEN54","TSFM","TSHB","TSHR","TSPOAP1","TSPYL1","TTC21B","TUBB3","TUBB6","TXN2","TXNL4A","UBA1","UBA2","UBA5","UBB","UBE3A","UBE3B","UBE3C","UBE4B","UBTF","UCP2","UFC1","UFD1","UFM1","UGDH","UGP2","UNC45B","UNC80","UQCC3","UQCRC2","UQCRFS1","USP7","USP9X","VAMP1","VPS13B","VPS35L","VPS4A","VPS50","VPS51","VRK1","WAC","WARS2","WASF1","WASHC5","WDPCP","WDR19","WDR26","WDR73","WFS1","WNK1","WWOX","YARS1","YIF1B","YWHAG","YY1","ZBTB18","ZBTB7A","ZC4H2","ZIC2","ZMIZ1","ZMYM2","ZNF148","ZNF292","ZNF462","ZNF668","ZNF699","ZNHIT3","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ELEVATED_CIRCULATING_LUTEINIZING_HORMONE_LEVEL":{"collection":"C5:HPO","systematicName":"M46217","pmid":"","exactSource":"HP:0011969","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011969","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELEVATED_CIRCULATING_LUTEINIZING_HORMONE_LEVEL","geneSymbols":["AR","BMPR1B","C14orf39","CLPP","CYB5A","CYP11A1","CYP17A1","DHX37","DIAPH2","DMRT3","ESR2","FANCM","FGD1","FIGLA","FOXL2","FSHB","GATA4","GCNA","GDF9","HFM1","KISS1R","MAP3K1","MCM8","MRPS22","MSH4","NR0B1","NR5A1","NSMCE2","POR","PPP2R3C","PSMC3IP","SOHLH1","SOX9","SPIDR","SRY","STAG3","VAMP7","WT1","WWOX","XRCC2","ZFPM2","ZSWIM7"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CEREBRAL_AMYLOID_ANGIOPATHY":{"collection":"C5:HPO","systematicName":"M37976","pmid":"","exactSource":"HP:0011970","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011970","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CEREBRAL_AMYLOID_ANGIOPATHY","geneSymbols":["APOE","APP","CST3","ITM2B","PSEN2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPOGLYCORRHACHIA":{"collection":"C5:HPO","systematicName":"M37977","pmid":"","exactSource":"HP:0011972","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011972","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOGLYCORRHACHIA","geneSymbols":["SLC2A1","TBK1","TICAM1","TLR3","TRAF3","UNC93B1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MYELOFIBROSIS":{"collection":"C5:HPO","systematicName":"M37978","pmid":"","exactSource":"HP:0011974","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011974","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MYELOFIBROSIS","geneSymbols":["CALR","GFI1B","JAK2","MPIG6B","MPL","NBEAL2","SH2B3","SHOC2","SRC","TBXAS1","TET2","TLR8","TP53"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ELEVATED_URINARY_CATECHOLAMINE_LEVEL":{"collection":"C5:HPO","systematicName":"M47198","pmid":"","exactSource":"HP:0011976","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011976","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELEVATED_URINARY_CATECHOLAMINE_LEVEL","geneSymbols":["ALK","CCND1","DBH","DLST","DNMT3A","EPAS1","FH","HACE1","KIF1B","LIN28B","LMO1","MAX","MDH2","MYCN","NF1","PHOX2B","RET","SDHA","SDHAF2","SDHB","SDHC","SDHD","SLC25A11","SLC6A2","TMEM127","TOP2A","VHL"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ACHOLIC_STOOLS":{"collection":"C5:HPO","systematicName":"M45447","pmid":"","exactSource":"HP:0011985","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011985","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACHOLIC_STOOLS","geneSymbols":["BRCA1","BRCA2","CYP7B1","DCDC2","HSD3B7","MYO5B","PTPN3","RFX6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_NEUTROPHIL_PHYSIOLOGY":{"collection":"C5:HPO","systematicName":"M37980","pmid":"","exactSource":"HP:0011990","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011990","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_NEUTROPHIL_PHYSIOLOGY","geneSymbols":["CEBPE","CYBA","CYBB","CYBC1","DNAJC21","EFL1","GPI","IRF8","LCP2","LYST","NCF1","NCF2","PMM2","RAC2","SBDS","SLC35C1","SPPL2A","SRP54"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_NEUTROPHIL_COUNT":{"collection":"C5:HPO","systematicName":"M37981","pmid":"","exactSource":"HP:0011991","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011991","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_NEUTROPHIL_COUNT","geneSymbols":["AARS1","ABCD4","ACP5","ADA2","AGA","AMN","ANAPC1","AP3B1","AP3D1","ASXL1","ATRX","BCOR","BLNK","BTK","CAMK2B","CARS1","CASP10","CBL","CD40","CD40LG","CD79A","CD79B","CDC40","CEBPE","CIITA","CLPB","COG4","CSF3R","CTLA4","CUBN","CXCR2","CXCR4","DIAPH1","DNAJC21","EFL1","EIF2AK3","ELANE","EPG5","ERCC2","ERCC3","ETV6","FANCA","FANCC","FANCD2","FANCE","FANCG","FANCI","FAS","FASLG","FBXL4","FBXW7","FCGR3B","FDX2","FIBP","FIP1L1","FMO3","FNIP1","FOXP3","FUT8","G6PC3","GATA1","GATA2","GFI1","GINS1","GSS","GTF2E2","GTF2H5","HAX1","HEATR3","HSCB","HTRA2","ICOS","IFNG","IGHM","IGLL1","IKBKG","IL1RN","IL36RN","IL6ST","IL7R","IRAK4","IRF2BP2","IRF8","ITCH","JAGN1","KIT","KRAS","LAMTOR2","LBR","LMBRD1","LRBA","LRRC8A","LYST","MAD2L2","MDM4","MECOM","MEFV","MMAA","MMAB","MMACHC","MMUT","MPLKIP","MSN","MTRR","MVK","MYSM1","NABP1","NCAPG2","NDUFA6","NPM1","NRAS","NUMA1","OTULIN","PACS2","PCCA","PCCB","PGM3","PIK3CD","PIK3CG","PIK3R1","PML","PNP","PPIL1","PRDX1","PRF1","PRKAR1A","PRKCD","RAB27A","RAC2","RAG1","RARA","RASGRP1","RECQL4","RELB","RFX5","RFXANK","RFXAP","RMRP","RNF113A","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS7","RUNX1","SAMD9","SAMD9L","SASH3","SBDS","SEC61A1","SF3B1","SH2D1A","SLC35A1","SLC35C1","SLC37A4","SLC39A7","SLC46A1","SMARCAL1","SMARCD2","SPI1","SRP19","SRP54","SRSF2","STAT1","STAT3","STAT5B","STK4","STX11","STXBP2","TAFAZZIN","TARS1","TBK1","TBL1XR1","TCF3","TCIRG1","TCN2","TDP2","TERC","TERT","TET2","TFR2","TFRC","TICAM1","TLR3","TLR8","TOM1","TONSL","TPP2","TRAC","TRAF3","TSR2","UBE2A","UNC13D","UNC93B1","USB1","VPS13B","VPS33A","VPS45","WAS","WDR1","WIPF1","XIAP","ZBTB16","ZNFX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_NEUTROPHIL_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M37982","pmid":"","exactSource":"HP:0011992","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011992","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_NEUTROPHIL_MORPHOLOGY","geneSymbols":["AMN","CEBPE","CUBN","CXCR4","FTCD","LBR","LYST","MTHFD1","MYH9","NBAS","RPS14","SF3B1","SFXN4","SLC19A1","SMARCD2","TET2","TMEM147"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_IMPAIRED_NEUTROPHIL_BACTERICIDAL_ACTIVITY":{"collection":"C5:HPO","systematicName":"M37983","pmid":"","exactSource":"HP:0011993","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011993","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRED_NEUTROPHIL_BACTERICIDAL_ACTIVITY","geneSymbols":["CEBPE","CYBA","CYBB","CYBC1","GPI","IRF8","LYST","NCF1","NCF2","RAC2","SPPL2A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_POSTPRANDIAL_HYPERGLYCEMIA":{"collection":"C5:HPO","systematicName":"M37984","pmid":"","exactSource":"HP:0011998","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011998","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POSTPRANDIAL_HYPERGLYCEMIA","geneSymbols":["CACNA1S","GABRA3","GYS2","INSR","KCNE3","KCNJ18","SCN4A","SHPK","SLC2A2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PARANOIA":{"collection":"C5:HPO","systematicName":"M37985","pmid":"","exactSource":"HP:0011999","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0011999","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PARANOIA","geneSymbols":["ATRX","BRAF","CDH23","CPOX","DGCR2","DGCR6","DGCR8","ECM1","ESS2","FMO3","HMBS","IMPA1","NR3C1","PLA2G6","PPOX","PRDM8","SNCA","TBP","TBX1","TIMM8A","TP53","USP48","USP8","VPS13A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_EEG_WITH_GENERALIZED_POLYSPIKES":{"collection":"C5:HPO","systematicName":"M45448","pmid":"","exactSource":"HP:0012001","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012001","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EEG_WITH_GENERALIZED_POLYSPIKES","geneSymbols":["CHD2","CNTNAP2","EFHC1","FRRS1L","GRIN2A","GRN"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FOCAL_COGNITIVE_SEIZURE_WITH_DEJA_VU_JAMAIS_VU":{"collection":"C5:HPO","systematicName":"M43413","pmid":"","exactSource":"HP:0012004","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012004","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOCAL_COGNITIVE_SEIZURE_WITH_DEJA_VU_JAMAIS_VU","geneSymbols":["DEPDC5","GAL","LGI1","MICAL1","NPRL2","NPRL3","RELN"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LENS_LUXATION":{"collection":"C5:HPO","systematicName":"M37986","pmid":"","exactSource":"HP:0012019","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012019","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LENS_LUXATION","geneSymbols":["C12orf57","COL11A1","COL2A1","FBN1","MOCS1","MOCS2","PAX2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RIGHT_AORTIC_ARCH":{"collection":"C5:HPO","systematicName":"M45449","pmid":"","exactSource":"HP:0012020","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012020","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RIGHT_AORTIC_ARCH","geneSymbols":["ACVR2B","CFAP53","CHD7","CIROP","CRELD1","DGCR2","DGCR6","DGCR8","DNAH1","DNAH9","ESS2","FLT4","GDF1","MMP21","NKX2-6","PKD1L1","PLXND1","SF3B2","STRA6","TBX1","TMEM260","TTC26","WDR26","WT1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_GALACTOSURIA":{"collection":"C5:HPO","systematicName":"M47199","pmid":"","exactSource":"HP:0012023","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012023","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GALACTOSURIA","geneSymbols":["FOXP2","GALE","GALK1","GALT","SKIC3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPERGALACTOSEMIA":{"collection":"C5:HPO","systematicName":"M41428","pmid":"","exactSource":"HP:0012024","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012024","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERGALACTOSEMIA","geneSymbols":["GALE","GALK1","GALM","GALT","SKIC3","SLC25A13","SLC2A2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CIRCULATING_ORNITHINE_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M47200","pmid":"","exactSource":"HP:0012025","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012025","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_ORNITHINE_CONCENTRATION","geneSymbols":["AASS","ALDH18A1","CA5A","OAT","SLC25A15"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LARYNGEAL_EDEMA":{"collection":"C5:HPO","systematicName":"M46218","pmid":"","exactSource":"HP:0012027","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012027","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LARYNGEAL_EDEMA","geneSymbols":["EPHB4","HS3ST6","PLG","SERPING1","XPNPEP2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HEPATOCELLULAR_ADENOMA":{"collection":"C5:HPO","systematicName":"M37988","pmid":"","exactSource":"HP:0012028","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012028","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEPATOCELLULAR_ADENOMA","geneSymbols":["ABCC8","APPL1","BLK","CEL","GCK","GNAS","HNF1A","HNF4A","INS","KCNJ11","KLF11","NEUROD1","PAX4","PDX1","PHKA2","PHKB","PHKG2","SLC37A4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_URINE_HORMONE_LEVEL":{"collection":"C5:HPO","systematicName":"M37989","pmid":"","exactSource":"HP:0012029","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012029","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_URINE_HORMONE_LEVEL","geneSymbols":["ARMC5","ATRX","BRAF","CDH23","CDKN1B","CDKN2A","CTNNB1","CYP11B1","CYP17A1","GNAS","NR3C1","PRKAR1A","TERT","TP53","USP48","USP8","ZNRF3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LIPOMA":{"collection":"C5:HPO","systematicName":"M37990","pmid":"","exactSource":"HP:0012032","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012032","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIPOMA","geneSymbols":["AKT1","ALX3","APC","CCL2","CDC73","COQ6","FGFR1","FUZ","KLLN","LZTR1","MAD1L1","MFN2","MSTO1","NF2","PIK3CA","PTEN","RPL10","SDHB","SDHC","SDHD","SEC23B","SMARCB1","TAF1","TBXT","USF3","VANGL1","VANGL2","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CORNEAL_GUTTATA":{"collection":"C5:HPO","systematicName":"M46219","pmid":"","exactSource":"HP:0012038","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012038","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CORNEAL_GUTTATA","geneSymbols":["AGBL1","COL8A2","KCNJ13","SLC4A11","TCF4","ZEB1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CORNEAL_STROMAL_EDEMA":{"collection":"C5:HPO","systematicName":"M37991","pmid":"","exactSource":"HP:0012040","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012040","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CORNEAL_STROMAL_EDEMA","geneSymbols":["COL8A2","GRHL2","OVOL2","PDGFRB","SLC4A11","TCF4","TEK","TGFBI","VSX1","ZEB1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DECREASED_FERTILITY_IN_MALES":{"collection":"C5:HPO","systematicName":"M37992","pmid":"","exactSource":"HP:0012041","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012041","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_FERTILITY_IN_MALES","geneSymbols":["ACTL9","ADGRG2","AIP","AK7","AKAP3","ALMS1","AMH","AMHR2","AR","ARMC2","AURKC","BLM","BPY2","BRAF","BRCA1","BRCA2","BRDT","BRIP1","C14orf39","C2CD6","CATIP","CATSPER1","CATSPER2","CCDC103","CCDC34","CCDC39","CCDC40","CCDC62","CCDC65","CCNO","CDC14A","CDH23","CDY1","CDY2A","CEP112","CFAP221","CFAP251","CFAP298","CFAP300","CFAP43","CFAP44","CFAP47","CFAP52","CFAP58","CFAP65","CFAP70","CFAP74","CFTR","CLDN2","CT55","CTNS","CYB5A","CYP17A1","CYP19A1","DAZ1","DAZ2","DAZ3","DAZ4","DDX3Y","DHX37","DMRT3","DNAAF1","DNAAF11","DNAAF2","DNAAF3","DNAAF4","DNAAF5","DNAAF6","DNAH1","DNAH10","DNAH11","DNAH17","DNAH2","DNAH5","DNAH7","DNAH8","DNAH9","DNAI1","DNAI2","DNAJB13","DNAL1","DNALI1","DNHD1","DPY19L2","DRC1","DZIP1","ERCC4","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FBXO43","FCGR2A","FKBP6","FOXJ1","FSIP2","GALT","GAS2L2","GAS8","GATA4","GCM2","GCNA","GGN","HSD3B2","HSFY1","HYDIN","IFT74","IQCN","KCNU1","KDM5D","KLHL10","LHCGR","LRRC56","M1AP","MAD2L2","MAP2K1","MAP3K1","MCIDAS","MEIOB","MEN1","MNS1","MOV10L1","MSH4","MSH5","NEK10","NME5","NME8","NR0B1","NR5A1","ODAD1","ODAD2","ODAD3","ODAD4","OFD1","PALB2","PDE11A","PDHA2","PLCZ1","PMFBP1","PNLDC1","PPP2R3C","PRKAR1A","PRY","PRY2","PTPN11","QRICH2","RAD51","RAD51C","RBMY1A1","RFWD3","RNF212","RPGR","RPL10L","RPS4Y2","RSPH1","RSPH3","RSPH4A","RSPH9","SEPTIN12","SHOC1","SLC26A8","SLX4","SOHLH1","SOX9","SPAG1","SPAG17","SPATA16","SPEF2","SPINK2","SRY","SSX1","STAG3","STK36","STRC","SUN5","SYCE1","SYCP2","SYCP3","TDRD9","TEKT3","TERB1","TERB2","TEX11","TEX14","TEX15","TGFB1","TSGA10","TSPY1","TTC12","TTC21A","TTC29","UBE2T","USP26","USP9Y","VAMP7","VCY","WDR19","WT1","WWOX","XKRY","XRCC2","ZFPM2","ZMYND10","ZMYND15","ZPBP","ZSWIM7"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PENDULAR_NYSTAGMUS":{"collection":"C5:HPO","systematicName":"M37993","pmid":"","exactSource":"HP:0012043","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012043","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PENDULAR_NYSTAGMUS","geneSymbols":["ADAR","AIPL1","ARHGEF2","ATF6","ATOH7","ATP1A2","BLOC1S3","CACNA1A","CARS1","CLTCL1","CNGA3","CNGB3","CNNM4","CRX","DLAT","DNMBP","FRMD7","GFAP","GNAT2","HMGB3","LRP5","MT-ATP6","NT5C2","NUP54","NUP62","OPN1LW","OPN1MW","OPN1SW","P4HTM","PDE6C","PDE6H","PEX2","PLA2G6","PLP1","PRRT2","RARS1","RPGR","RPGRIP1","SCN1A","SDHD","TBL1XR1","TENM3","TMEM106B","TMEM231","TMEM63A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SEESAW_NYSTAGMUS":{"collection":"C5:HPO","systematicName":"M41429","pmid":"","exactSource":"HP:0012044","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012044","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEESAW_NYSTAGMUS","geneSymbols":["ATP1A2","CACNA1A","CLTCL1","PRRT2","SCN1A","TMEM231"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RETINAL_FLECKS":{"collection":"C5:HPO","systematicName":"M37994","pmid":"","exactSource":"HP:0012045","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012045","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETINAL_FLECKS","geneSymbols":["BEST1","PLA2G5","PROM1","PRPH2","RDH5","RHO","RLBP1","ZFYVE26"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_AREFLEXIA_OF_UPPER_LIMBS":{"collection":"C5:HPO","systematicName":"M46220","pmid":"","exactSource":"HP:0012046","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012046","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AREFLEXIA_OF_UPPER_LIMBS","geneSymbols":["CLPB","DKK1","IGHMBP2","JAG1","SBF2","SLC9A1","XK"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HEMERALOPIA":{"collection":"C5:HPO","systematicName":"M37995","pmid":"","exactSource":"HP:0012047","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012047","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEMERALOPIA","geneSymbols":["ATXN7","CEP78","CNGA3","GRM6","GUCY2D","IFT172","NR2E3","NYX","TULP1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_OROMANDIBULAR_DYSTONIA":{"collection":"C5:HPO","systematicName":"M37996","pmid":"","exactSource":"HP:0012048","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012048","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OROMANDIBULAR_DYSTONIA","geneSymbols":["ALS2","ANO3","ATN1","C19orf12","COASY","COL6A3","FUS","KMT2B","PANK2","SIGMAR1","SLC39A14","SLC6A3","SPG11","SPTLC1","THAP1","TIMM8A","TOR1A","VPS13A","VPS16"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LARYNGEAL_DYSTONIA":{"collection":"C5:HPO","systematicName":"M37997","pmid":"","exactSource":"HP:0012049","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012049","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LARYNGEAL_DYSTONIA","geneSymbols":["ATP5MC3","COL6A3","FTL","GNAL","GNAS","KCTD17","KMT2B","PRKRA","STX16","THAP1","TUBB4A","VPS11","VPS13A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ANASARCA":{"collection":"C5:HPO","systematicName":"M43415","pmid":"","exactSource":"HP:0012050","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012050","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANASARCA","geneSymbols":["DEF6","DPAGT1","FARSB","PLVAP","PMM2","POLG","PRKAG2","SCARB2","UBR1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_REACTIVE_HYPOGLYCEMIA":{"collection":"C5:HPO","systematicName":"M43416","pmid":"","exactSource":"HP:0012051","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012051","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REACTIVE_HYPOGLYCEMIA","geneSymbols":["ALDOB","GLUD1","HNF1A","MEN1","PCSK1","UCP2","YY1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LOW_SERUM_CALCITRIOL":{"collection":"C5:HPO","systematicName":"M37998","pmid":"","exactSource":"HP:0012052","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012052","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOW_SERUM_CALCITRIOL","geneSymbols":["CYP27B1","CYP2R1","CYP3A4","DMP1","ENPP1","LRP5"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CUTANEOUS_MELANOMA":{"collection":"C5:HPO","systematicName":"M37999","pmid":"","exactSource":"HP:0012056","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012056","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CUTANEOUS_MELANOMA","geneSymbols":["BAP1","BRAF","CDK4","CDKN2A","COL17A1","COL7A1","CXCR4","ERCC3","HRAS","MC1R","MITF","MMP1","NRAS","OCA2","POLH","STK11","WRN","XPC"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BONE_CYST":{"collection":"C5:HPO","systematicName":"M38000","pmid":"","exactSource":"HP:0012062","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012062","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BONE_CYST","geneSymbols":["AGPAT2","AKT1","B2M","BSCL2","BTNL2","CAV1","CAVIN1","FGFR1","FOS","GNAS","HLA-DRB1","KLLN","KRAS","NF1","NOTCH3","PDGFRB","PIK3CA","PPARG","PRG4","PTEN","SDHB","SDHC","SDHD","SEC23B","SH3BP2","TREM2","TYROBP","USF3","VDR","ZBTB20"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CIRCULATING_ACYLCARNITINE_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M38001","pmid":"","exactSource":"HP:0012071","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012071","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_ACYLCARNITINE_CONCENTRATION","geneSymbols":["ABCD4","ACAD8","ACAD9","ACADS","COX16","CPT2","ETHE1","HADH","HADHA","LMBRD1","LYRM7","MCEE","MMACHC","SLC25A20","SLC52A1","TANGO2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PERSONALITY_DISORDER":{"collection":"C5:HPO","systematicName":"M38002","pmid":"","exactSource":"HP:0012075","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012075","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERSONALITY_DISORDER","geneSymbols":["CACNA1A","CBS","CHD2","CUX2","CYP27A1","DNM1","DRD2","GABRB3","KCNT1","KCTD17","MAPK10","RORA","SCN1A","SGCE","SPG21","TOR1A","WAC","XK"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ENLARGED_CEREBELLUM":{"collection":"C5:HPO","systematicName":"M41430","pmid":"","exactSource":"HP:0012081","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012081","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ENLARGED_CEREBELLUM","geneSymbols":["BICRA","FGFR3","HRAS","KDM1A","PDCD6IP","PTEN","ZEB2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_SKELETAL_MUSCLE_FIBER_SIZE":{"collection":"C5:HPO","systematicName":"M38003","pmid":"","exactSource":"HP:0012084","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012084","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_SKELETAL_MUSCLE_FIBER_SIZE","geneSymbols":["AARS2","ACTA1","ACTN2","ADGRG6","AHCY","AIFM1","ALDOA","ALG2","ANO5","ANXA11","ASCC1","BVES","CACNA1S","CAPN3","CASQ1","CAV3","CAVIN1","CCDC174","CFL2","CHRNB1","CLCN6","COL12A1","COL13A1","COL6A1","COL6A2","COL6A3","CRYAB","CTBP1","DAG1","DMD","DNAJB6","DPM3","DYSF","FHL1","FKTN","GARS1","GIPC1","GNE","HNRNPA1","HNRNPA2B1","HPDL","ISCU","ITGA7","JAG2","KBTBD13","KIF5A","KLHL41","KY","LAMA2","LMNA","LMOD3","LRP12","LYRM4","MAP3K20","MATR3","MB","MEGF10","MICU1","MIPEP","MLIP","MSTO1","MTM1","MYH14","MYH2","MYL1","MYL2","MYOT","MYPN","NDUFA4","NEB","NEFH","NEK9","NOTCH2NLC","OBSCN","OPA1","ORAI1","PFKM","PLEC","POLG","POMGNT1","POMT1","POMT2","POPDC3","PPARG","RILPL1","RYR1","RYR3","SCN4A","SCO2","SELENON","SGCA","SGCB","SGCG","SLC25A12","SMN1","SMPX","SQSTM1","STAC3","STIM1","SUCLG1","SYNE1","SYNE2","SYT2","TCAP","TMEM43","TNNC2","TNNT1","TOR1AIP1","TPM2","TPM3","TRIM32","TRIP4","TTN","TWNK","UNC45B","VCP","YME1L1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_URINARY_COLOR":{"collection":"C5:HPO","systematicName":"M43418","pmid":"","exactSource":"HP:0012086","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012086","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_URINARY_COLOR","geneSymbols":["ABCC2","AKR1D1","ALAD","ATP11C","BLVRA","CLTRN","CPOX","CPT2","DMD","GATA1","HMBS","IRAK1","LPIN1","MT-CO1","MT-CO3","OBSCN","PYGM","SAT1","SLC6A19","SPP1","STAT4","TSC1","TSC2","TTC26","UROD","UROS"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_MITOCHONDRIAL_SHAPE":{"collection":"C5:HPO","systematicName":"M43419","pmid":"","exactSource":"HP:0012087","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012087","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MITOCHONDRIAL_SHAPE","geneSymbols":["CHKB","FDXR","FH","GGPS1","LYRM4","MFF","MYH14","SLC25A3","SUCLG1","TMEM126B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_PANCREAS_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M38004","pmid":"","exactSource":"HP:0012090","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012090","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PANCREAS_MORPHOLOGY","geneSymbols":["ABCC6","ABCC8","ALG5","ALG9","APPL1","ASXL1","B9D1","B9D2","BICC1","BLK","CASR","CASZ1","CC2D2A","CCND1","CDKN1C","CEL","CEP290","CFTR","CNOT1","CP","CPA1","CSPP1","CTRC","DIS3L2","DNAJB11","DNAJC21","DYNC2I1","DZIP1L","EFL1","ENPP1","FANCD2","FLI1","FLNB","FOCAD","FOXF1","GABRD","GANAB","GATA6","GCK","GLIS3","HNF1A","HNF1B","HNF4A","HSPG2","IFT140","IGF2","INS","KCNAB2","KCNJ11","KCNQ1","KCNQ1OT1","KLF11","LHX1","LUZP1","MKS1","MMP23B","MYCN","NEK1","NEUROD1","NPHP3","OFD1","PAX4","PDPN","PDX1","PKD1","PKD2","PKHD1","PRDM16","PRKCZ","PRSS1","PRSS2","PTF1A","PTRH2","RARB","RBM8A","RECQL4","RERE","RFX6","RPGRIP1","RPGRIP1L","SBDS","SETBP1","SIK3","SKI","SLC29A3","SLC37A4","SPEN","SPINK1","SRP54","STAT3","STRA6","TCTN1","TCTN2","TCTN3","TELO2","TMEM107","TMEM216","TMEM231","TMEM237","TMEM67","TXNDC15","UBE4B","VHL","WDR19","WNT7B","XPNPEP3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_PANCREAS_PHYSIOLOGY":{"collection":"C5:HPO","systematicName":"M38005","pmid":"","exactSource":"HP:0012091","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012091","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_PANCREAS_PHYSIOLOGY","geneSymbols":["ABCB4","ABCC8","ACTG2","AGPAT2","ALMS1","AP2S1","APOC2","APOE","APPL1","ARX","ATP6AP1","ATP8B1","BCKDHA","BCKDHB","BLK","BRCA1","BRCA2","BSCL2","C4A","CASR","CAV1","CBS","CCDC47","CCND1","CCR1","CDC73","CDKN1A","CDKN1B","CDKN2A","CDKN2B","CDKN2C","CEACAM3","CEACAM6","CEL","CFTR","CIDEC","CLCA4","CNOT1","COX4I2","CPA1","CTLA4","CTNS","CTRC","CYBC1","DBT","DCTN4","DIS3L2","DNAJC21","EDNRA","EFL1","EIF2AK3","ERAP1","FAH","FAS","FCGR2A","FLI1","FOCAD","G6PC1","GATA6","GCGR","GCK","GCLC","GK","GLUD1","GNA11","GNAS","GPC3","GPC4","GPIHBP1","GPR35","GSTM3","HAMP","HFE","HJV","HLA-B","HLA-DPA1","HLA-DPB1","HMGCL","HMOX1","HNF1A","HNF1B","HNF4A","IFNGR1","IFT172","IKZF1","IL10","IL12A","IL12A-AS1","IL23R","INS","INSR","JAG1","KCNJ11","KCNN4","KLF11","KLRC4","KRAS","LBR","LMF1","LMNA","LPL","MADD","MAFA","MEFV","MEN1","MIF","MMUT","MST1","MT-CO1","MT-CO2","MT-CO3","MT-ND1","MT-ND4","MT-ND5","MT-ND6","MT-TF","MT-TH","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TW","NADK2","NDUFS3","NEUROD1","NFS1","NSD2","NSMCE2","OFD1","PALB2","PALLD","PAX4","PCCA","PCCB","PDE11A","PDX1","PNPLA2","PPARG","PRIM1","PRSS1","PRSS2","PRTN3","PTF1A","PTPN22","PTRH2","PUF60","RABL3","RNU7-1","SBDS","SCNN1A","SCNN1B","SEMA4D","SERPINA1","SLC11A1","SLC16A1","SLC25A13","SLC26A9","SLC37A4","SLC6A14","SLC7A7","SLC9A3","SMAD4","SMARCAL1","SPINK1","SRP54","STAT3","STAT4","STUB1","STX1A","TCF4","TGFB1","TKFC","TLR4","TP53","TRMT5","UBAC2","UBR1","UCP2","UQCRH","VHL","XPNPEP3","YARS1","YY1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_EXOCRINE_PANCREAS_PHYSIOLOGY":{"collection":"C5:HPO","systematicName":"M38006","pmid":"","exactSource":"HP:0012092","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012092","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_EXOCRINE_PANCREAS_PHYSIOLOGY","geneSymbols":["ABCC8","APPL1","ARX","ATP6AP1","BLK","BRCA1","BRCA2","CCDC47","CDKN2A","CEACAM3","CEACAM6","CEL","CFTR","CLCA4","CNOT1","COX4I2","CTNS","CTRC","DCTN4","DNAJC21","EDNRA","EFL1","EIF2AK3","FCGR2A","FOCAD","GATA6","GCK","GCLC","GSTM3","HFE","HMOX1","HNF1A","HNF1B","HNF4A","INS","JAG1","KCNJ11","KCNN4","KLF11","KRAS","MADD","MIF","NEUROD1","NSD2","OFD1","PALB2","PALLD","PAX4","PDX1","PRIM1","PRSS1","PRSS2","PTF1A","PTRH2","PUF60","RABL3","SBDS","SCNN1A","SCNN1B","SERPINA1","SLC11A1","SLC26A9","SLC6A14","SLC9A3","SMAD4","SPINK1","SRP54","STAT3","STX1A","TGFB1","TP53","TRMT5","UBR1","YARS1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_ENDOCRINE_PANCREAS_PHYSIOLOGY":{"collection":"C5:HPO","systematicName":"M38007","pmid":"","exactSource":"HP:0012093","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012093","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_ENDOCRINE_PANCREAS_PHYSIOLOGY","geneSymbols":["ABCC8","CCND1","CDKN1A","CDKN1B","CDKN2B","CDKN2C","DIS3L2","EIF2AK3","FAH","GCGR","GCK","GLUD1","GPC3","GPC4","HAMP","HJV","HNF1B","HNF4A","INS","INSR","KCNJ11","LBR","MAFA","MEN1","PAX4","PDX1","SLC16A1","STAT3","UCP2","VHL","YY1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_PANCREAS_SIZE":{"collection":"C5:HPO","systematicName":"M38008","pmid":"","exactSource":"HP:0012094","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012094","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PANCREAS_SIZE","geneSymbols":["ABCC8","APPL1","BLK","CDKN1C","CEL","CNOT1","DNAJC21","EFL1","FOCAD","GATA6","GCK","GLIS3","HNF1A","HNF1B","HNF4A","IGF2","INS","KCNJ11","KCNQ1","KCNQ1OT1","KLF11","LHX1","NEUROD1","PAX4","PDX1","PTF1A","PTRH2","RARB","RFX6","SBDS","SLC29A3","SRP54","STAT3","STRA6","WNT7B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MULTIPLE_JOINT_DISLOCATION":{"collection":"C5:HPO","systematicName":"M41431","pmid":"","exactSource":"HP:0012095","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012095","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MULTIPLE_JOINT_DISLOCATION","geneSymbols":["B3GALT6","B3GAT3","CHST3","EXOC6B","GNB2","GZF1","KIF22","RNU4ATAC"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_EDEMA_OF_THE_DORSUM_OF_FEET":{"collection":"C5:HPO","systematicName":"M41432","pmid":"","exactSource":"HP:0012098","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012098","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EDEMA_OF_THE_DORSUM_OF_FEET","geneSymbols":["PLAA","RBM8A","RNF13","TGM1","ZNHIT3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CIRCULATING_CREATININE_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M38009","pmid":"","exactSource":"HP:0012100","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012100","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_CREATININE_CONCENTRATION","geneSymbols":["ADAMTS13","ALG5","ALG8","ALG9","APRT","AVPR2","BICC1","C3","CC2D2A","CCND1","CD46","CFB","CFH","CFHR1","CFHR3","CFI","COQ7","CORIN","CPT2","CTNS","DBH","DNAJB11","EHHADH","ELP1","FAN1","FLT1","GALNT2","GAMT","GANAB","HBB","HNF1B","HPRT1","IFT140","INVS","MLIP","MRPS7","MUC1","NFE2L2","NPHP1","NT5E","PAX2","PKD1","PKD2","SEC61A1","SLC22A12","SLC41A1","SLC4A1","SLC4A2","STOX1","THBD","TMEM260","TREX1","TTC26","WDR19"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DECREASED_SERUM_CREATININE":{"collection":"C5:HPO","systematicName":"M46221","pmid":"","exactSource":"HP:0012101","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012101","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_SERUM_CREATININE","geneSymbols":["AVPR2","GALNT2","GAMT","NFE2L2","NT5E"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_MITOCHONDRIAL_NUMBER":{"collection":"C5:HPO","systematicName":"M41433","pmid":"","exactSource":"HP:0012102","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012102","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MITOCHONDRIAL_NUMBER","geneSymbols":["CHCHD10","DNA2","GYG1","MGME1","PET117","SFXN4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_MITOCHONDRION":{"collection":"C5:HPO","systematicName":"M38010","pmid":"","exactSource":"HP:0012103","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012103","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_MITOCHONDRION","geneSymbols":["AARS2","ACAD8","ACAD9","ACADM","AFG3L2","AGK","AIFM1","AK2","ATP5F1A","ATP5F1D","ATP5F1E","ATPAF2","BCS1L","BOLA3","C1QBP","CAMKMT","CARS2","CDK5","CHCHD10","CHKB","COA3","COA5","COA6","COA8","COL7A1","COX16","COX20","COX4I1","COX5A","COX6A2","CPT2","CRLS1","CYBA","CYBB","CYC1","CYP27A1","DGUOK","DLAT","DLD","DNA2","DNAJC30","DNM1L","DNMT1","EARS2","ECHS1","EHHADH","ELAC2","ETFA","ETFB","ETFDH","FBXL4","FDX2","FDXR","FH","FLAD1","FOXRED1","FUS","FXN","GATC","GATM","GFER","GFM1","GFM2","GGPS1","GLRX5","GNE","GTPBP3","GYG1","HACD1","HADH","HADHA","HIBCH","HSD17B10","IBA57","ISCA2","ISCU","KARS1","LIAS","LIG3","LRPPRC","LYRM4","LYRM7","MECR","MFF","MGME1","MIEF2","MMP1","MPV17","MRM2","MRPL12","MRPS14","MRPS16","MRPS22","MRPS23","MRPS25","MT-ATP6","MT-CO1","MT-CO2","MT-CO3","MT-CYB","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND4L","MT-ND5","MT-ND6","MT-TE","MT-TF","MT-TH","MT-TL1","MT-TL2","MT-TN","MT-TQ","MT-TS1","MT-TS2","MT-TW","MTFMT","MTO1","MTRFR","MYH14","MYH7","NADK2","NARS2","NAXE","NDUFA1","NDUFA10","NDUFA11","NDUFA12","NDUFA13","NDUFA2","NDUFA4","NDUFA6","NDUFA8","NDUFA9","NDUFAF1","NDUFAF2","NDUFAF3","NDUFAF4","NDUFAF5","NDUFAF6","NDUFAF8","NDUFB10","NDUFB11","NDUFB3","NDUFB7","NDUFB8","NDUFB9","NDUFC2","NDUFS1","NDUFS2","NDUFS3","NDUFS4","NDUFS6","NDUFS7","NDUFS8","NDUFV1","NDUFV2","NEB","NFS1","NFU1","NSUN3","NUBPL","PDHA1","PDHB","PDHX","PDP1","PET100","PET117","PEX5","PNPT1","POLG","POLG2","PPM1B","PREPL","PTCD3","PUS1","QRSL1","RARS2","RRM2B","SCN4A","SCO1","SCO2","SDHA","SDHB","SDHD","SFXN4","SLC25A10","SLC25A20","SLC25A26","SLC25A3","SLC25A4","SLC34A1","SLC39A8","SLC3A1","SPG7","SQSTM1","SUCLA2","SUCLG1","TAFAZZIN","TARDBP","TBK1","TIMM22","TIMM50","TIMMDC1","TK2","TMEM126B","TMEM70","TRIT1","TRMT5","TRMU","TSFM","TTC19","TTN","TWNK","TXN2","TYMP","UQCC2","UQCC3","UQCRB","UQCRH","UQCRQ","VARS2","VCP","YARS2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PARIETAL_CORTICAL_ATROPHY":{"collection":"C5:HPO","systematicName":"M41434","pmid":"","exactSource":"HP:0012104","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012104","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PARIETAL_CORTICAL_ATROPHY","geneSymbols":["MAGEL2","NDN","OCA2","SACS","SCYL2","SNRPN","STUB1","TMEM147"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_OCCIPITAL_CORTICAL_ATROPHY":{"collection":"C5:HPO","systematicName":"M41435","pmid":"","exactSource":"HP:0012105","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012105","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OCCIPITAL_CORTICAL_ATROPHY","geneSymbols":["DOCK7","MAGEL2","NDN","OCA2","SNRPN"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_OPEN_ANGLE_GLAUCOMA":{"collection":"C5:HPO","systematicName":"M38012","pmid":"","exactSource":"HP:0012108","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012108","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OPEN_ANGLE_GLAUCOMA","geneSymbols":["ASB10","CYP1B1","EFEMP1","FGF10","FGFR2","FGFR3","LMX1B","MYOC","NTF4","OPTN","POLG2","WDR36"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ANGLE_CLOSURE_GLAUCOMA":{"collection":"C5:HPO","systematicName":"M45450","pmid":"","exactSource":"HP:0012109","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012109","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANGLE_CLOSURE_GLAUCOMA","geneSymbols":["ATOH7","COL18A1","FZD4","LRP5","NDP","TMEM98"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPOPLASIA_OF_THE_PONS":{"collection":"C5:HPO","systematicName":"M38013","pmid":"","exactSource":"HP:0012110","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012110","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASIA_OF_THE_PONS","geneSymbols":["ADGRG1","AGTPBP1","AHCY","ALG3","AMPD2","APC2","ARHGEF2","ASNS","ATXN2","ATXN8OS","B3GALNT2","BRF1","CASK","CDON","CLCN3","DCC","DISP1","DLL1","DOCK7","EPG5","EXOSC1","EXOSC3","EXOSC8","EXOSC9","FGF8","FKRP","FOXH1","GAS1","GLI2","GMPPB","GPHN","LARGE1","MAB21L1","MACF1","MARS2","MDH1","MED23","MINPP1","NODAL","PCLO","PI4KA","PIGS","PLK4","PMM2","POGZ","POMGNT1","POMK","POMT1","POMT2","PPIL1","PPP2R1A","PRDM13","PTCH1","PTEN","RELN","RERE","ROBO1","ROBO3","RTTN","SEPSECS","SETD2","SHH","SIX3","SLC25A46","SLC5A6","SMARCA2","SNX14","STIL","STUB1","TBC1D23","TDGF1","TGIF1","TOE1","TRAPPC12","TSEN15","TSEN2","TSEN34","TSEN54","TUBA1A","TUBB2B","TUBB3","UBE2A","VPS51","VRK1","WNT1","ZIC1","ZIC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_CIRCULATING_GLUCOCORTICOID_LEVEL":{"collection":"C5:HPO","systematicName":"M38014","pmid":"","exactSource":"HP:0012111","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012111","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_CIRCULATING_GLUCOCORTICOID_LEVEL","geneSymbols":["AAAS","ABCD1","AIRE","AKT1","ARMC5","ATRX","BAP1","BRAF","CBX2","CDH23","CDKN1A","CDKN1B","CDKN2A","CDKN2B","CDKN2C","CTNNB1","CYB5A","CYP11A1","CYP11B1","CYP11B2","CYP17A1","GATB","GATC","GLI3","GNAS","HSD11B2","HSD3B2","HTR1A","KCNJ11","MC2R","MEN1","MRAP","NF2","NFKB2","NNT","NR0B1","NR3C1","PCSK1","PDE11A","PDE8B","PDGFB","PIK3CA","POMC","POR","PRKACA","PRKAR1A","QRSL1","RET","ROBO1","SERPINA6","SMARCB1","SMARCE1","SMO","STAR","SUFU","TBX19","TERT","TP53","TRAF7","TXNRD2","USP48","USP8","ZNRF3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CIRCULATING_CREATINE_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M47201","pmid":"","exactSource":"HP:0012113","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012113","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_CREATINE_CONCENTRATION","geneSymbols":["BMPR1A","RPS20","SEMA4A","SLC6A8","TNPO3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HEPATITIS":{"collection":"C5:HPO","systematicName":"M38015","pmid":"","exactSource":"HP:0012115","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012115","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEPATITIS","geneSymbols":["ACP5","AIRE","AKR1D1","ALMS1","AMACR","APC","ATP7A","ATP7B","AXIN1","BLNK","BTK","C1S","C4B","CASP10","CASP8","CD247","CD3D","CD3E","CD40LG","CD79A","CD79B","CIITA","CLEC7A","COG6","COG8","CTNNB1","CYP7A1","CYP7B1","FAS","FASLG","FOXP3","GLIS3","GNAS","GPR35","GUSB","HBB","HSD3B7","IFIH1","IGF2R","IGHG2","IGHM","IGKC","IGLL1","IL12A","IL12RB1","IL17F","IL17RA","IL17RC","IL18BP","IL21R","IRF5","ITCH","KRT18","LRRC8A","MET","MMEL1","MST1","PDGFRL","PGM1","PI4KA","PIEZO1","PIK3CA","PIK3R1","POU2AF1","PRKCD","RASGRP1","RFX5","RFXANK","RFXAP","SEMA4D","SERPINA1","SH2D1A","SHPK","SKIC2","SLC25A15","SLC39A7","SPI1","SPIB","STAT1","SYK","TBX19","TCF3","TCF4","TNFSF15","TNPO3","TOM1","TP53","TPP2","TRAF3IP2","TTC7A","VIPAS39","VPS33B","XIAP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CIRCULATING_ALBUMIN_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M47202","pmid":"","exactSource":"HP:0012116","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012116","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_ALBUMIN_CONCENTRATION","geneSymbols":["ACSL5","ACTN4","AHCY","ALB","ALG1","ALG12","ALG6","ALG8","ANKFY1","ANLN","AP1B1","AP1S3","APOL1","APTX","ARHGAP24","ARHGDIA","ATP7B","B2M","BMPR1A","CCBE1","CD2AP","CD55","COL4A3","COL7A1","COQ8B","CRB2","DAAM2","DGAT1","DGKE","DGUOK","DHCR7","DSG1","EIF2AK3","EMP2","ERCC4","FARSA","FARSB","FN1","FOXP3","GAPVD1","GPR35","IARS1","IFNGR1","IL12A","IL12RB1","IL36RN","INF2","IRF5","IRF8","ITGA3","KRT14","KRT5","LARS2","MAGI2","MICOS13","MMEL1","MPI","MST1","MTTP","MYO1E","MYO5B","NLRC4","NPHS1","NPHS2","NUP107","NUP133","NUP160","NUP205","NUP37","NUP85","NUP93","OSGEP","PAX2","PDSS2","PET100","PIK3R5","PLCE1","PLVAP","PMM2","PNKP","POLG2","POU2AF1","PRF1","PTEN","PTPRO","RNU7-1","SAR1B","SCARB2","SEMA4D","SETX","SGPL1","SH2D1A","SKIC3","SLC25A13","SLCO2A1","SMAD4","SPIB","STX11","STXBP2","SYK","TBC1D8B","TCF4","TDP1","TFAM","TKFC","TNFSF15","TNPO3","TRMU","TRPC6","TTC26","UNC13D","VPS33A","WDR4","WDR73","WT1","XIAP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_METHEMOGLOBINEMIA":{"collection":"C5:HPO","systematicName":"M43420","pmid":"","exactSource":"HP:0012119","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012119","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_METHEMOGLOBINEMIA","geneSymbols":["CYB5A","CYB5R3","HBA1","HBB","HBG2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_METHYLMALONIC_ACIDURIA":{"collection":"C5:HPO","systematicName":"M38017","pmid":"","exactSource":"HP:0012120","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012120","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_METHYLMALONIC_ACIDURIA","geneSymbols":["ABCD4","ACSF3","ALDH6A1","CD320","HCFC1","LMBRD1","MCEE","MLYCD","MMAA","MMAB","MMACHC","MMADHC","MMUT","MTR","MTRR","PRDX1","SFXN4","SUCLA2","SUCLG1","TCN2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ANTERIOR_UVEITIS":{"collection":"C5:HPO","systematicName":"M38018","pmid":"","exactSource":"HP:0012122","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012122","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANTERIOR_UVEITIS","geneSymbols":["AIRE","ANKRD55","CD247","HLA-B","HLA-DRB1","IKBKG","IL2RA","IL2RB","IL6","LACC1","MIF","NOD2","PTPN2","PTPN22","STAT4","STUB1","TNFAIP3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_POSTERIOR_UVEITIS":{"collection":"C5:HPO","systematicName":"M38019","pmid":"","exactSource":"HP:0012123","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012123","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POSTERIOR_UVEITIS","geneSymbols":["BCL10","BIRC3","FOXP1","MALT1","NOD2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PROSTATE_CANCER":{"collection":"C5:HPO","systematicName":"M47203","pmid":"","exactSource":"HP:0012125","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012125","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROSTATE_CANCER","geneSymbols":["AAGAB","APC","AR","BARD1","BMPR1A","BRCA1","BRCA2","BRIP1","CDH1","CDKN2A","CHEK2","COL14A1","EPHB2","FOXE1","GREM1","KLF6","MAD1L1","MDM2","MRE11","MXI1","NAB2","NBN","NTHL1","PALB2","PTEN","RAD50","RAD51","RAD51C","RAD51D","RNASEL","RNF43","STAT6","TP53","ZFHX3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_STOMACH_CANCER":{"collection":"C5:HPO","systematicName":"M38020","pmid":"","exactSource":"HP:0012126","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012126","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_STOMACH_CANCER","geneSymbols":["AAGAB","APC","BLM","BMPR1A","BUB1","BUB1B","BUB3","CASP10","CDH1","CDKN2A","CEP57","CHEK2","COL14A1","ERBB2","FGFR2","IL1B","IL1RN","IRF1","KLF6","KRAS","MDM2","MSH3","MUTYH","PIK3CA","RPS20","SEMA4A","STK11","TP53","TRIP13"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_NUMBER_OF_ERYTHROID_PRECURSORS":{"collection":"C5:HPO","systematicName":"M38021","pmid":"","exactSource":"HP:0012131","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012131","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_NUMBER_OF_ERYTHROID_PRECURSORS","geneSymbols":["ADA2","CBLIF","CDAN1","CDIN1","CTLA4","EPO","ERBB3","G6PC3","GATA1","GLRX5","HBB","HEATR3","KLF1","LARS2","LPIN2","PGK1","PIGA","PKLR","PNP","PUS1","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS14","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS7","SF3B1","SLC11A2","TCN2","TET2","TP53","TSR2","UROD","UROS"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ERYTHROID_HYPERPLASIA":{"collection":"C5:HPO","systematicName":"M38022","pmid":"","exactSource":"HP:0012132","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012132","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ERYTHROID_HYPERPLASIA","geneSymbols":["CBLIF","CDAN1","CDIN1","ERBB3","GATA1","GLRX5","HBB","KLF1","LARS2","LPIN2","PGK1","PIGA","PKLR","PUS1","SF3B1","SLC11A2","TET2","UROD","UROS"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ERYTHROID_HYPOPLASIA":{"collection":"C5:HPO","systematicName":"M38023","pmid":"","exactSource":"HP:0012133","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012133","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ERYTHROID_HYPOPLASIA","geneSymbols":["ADA2","G6PC3","GATA1","HEATR3","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS14","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS7","TCN2","TET2","TP53","TSR2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_GRANULOCYTOPOIETIC_CELL_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M38024","pmid":"","exactSource":"HP:0012135","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012135","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_GRANULOCYTOPOIETIC_CELL_MORPHOLOGY","geneSymbols":["ASXL1","CSF3R","CXCR2","CXCR4","GATA1","IRF8","KIT","NUMA1","RARA","RPL18","RPL26","SF3B1","SRSF2","TET2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_NUMBER_OF_GRANULOCYTE_PRECURSORS":{"collection":"C5:HPO","systematicName":"M43421","pmid":"","exactSource":"HP:0012137","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012137","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_NUMBER_OF_GRANULOCYTE_PRECURSORS","geneSymbols":["ASXL1","CSF3R","IRF8","KIT","RPL18","RPL26","SF3B1","SRSF2","TET2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_GRANULOCYTIC_HYPERPLASIA":{"collection":"C5:HPO","systematicName":"M46222","pmid":"","exactSource":"HP:0012138","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012138","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GRANULOCYTIC_HYPERPLASIA","geneSymbols":["ASXL1","CSF3R","IRF8","KIT","SRSF2","TET2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_MEGAKARYOCYTE_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M38025","pmid":"","exactSource":"HP:0012143","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012143","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MEGAKARYOCYTE_MORPHOLOGY","geneSymbols":["ANKRD26","CALR","FYB1","GATA1","GATA2","GNA14","GP1BA","GP1BB","GP9","HOXA11","JAK2","KIF15","MPL","MYH9","MYSM1","RFWD3","RPS14","SAMD9","SF3B1","SH2B3","SLC35A1","TET2","TP53","UBA1","ZNFX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_MULTIPLE_CELL_LINEAGES_IN_THE_BONE_MARROW":{"collection":"C5:HPO","systematicName":"M46223","pmid":"","exactSource":"HP:0012145","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012145","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_MULTIPLE_CELL_LINEAGES_IN_THE_BONE_MARROW","geneSymbols":["ACD","ACP5","ADA2","ADH5","ALPK1","AMN","ANAPC1","ASXL1","ATR","BACH2","BCOR","BRCA2","BRIP1","CA2","CALR","CASP10","CBL","CD27","CIITA","CLCN7","CLPB","COG6","COQ2","CTC1","CUBN","CXCR4","DCLRE1B","DDX41","DHFR","DKC1","DNAJC21","DNASE2","DPP9","DUT","EFL1","ELANE","ERCC4","ERCC6L2","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCI","FANCL","FARSB","FAS","FASLG","FIP1L1","FLI1","GATA1","GATA2","GBA1","GFI1","GFI1B","GNAS","HAVCR2","HLA-DRB1","HOXA11","IFIH1","IFNG","IKZF1","IRF2BP2","ITCH","ITK","IVD","JAK2","KIT","KRAS","LBR","LIG4","LMBRD1","LRBA","LYST","MAD2L2","MAN2B1","MDM4","MMAA","MMAB","MMADHC","MPIG6B","MPL","MRPS7","MTHFD1","MTRR","MYSM1","NABP1","NAXD","NBEAL2","NBN","NHP2","NLRC4","NOP10","NPM1","NRAS","NUMA1","OSTM1","PALB2","PARN","PCCA","PCCB","PGM3","PIGA","PML","PRF1","PRKAR1A","PRKCD","PSTPIP1","PTPRC","RAB27A","RAC2","RAD51","RARA","RASGRP1","RECQL4","RFX5","RFXANK","RFXAP","RNASEH2A","RPA1","RPL26","RPS14","RTEL1","RUNX1","SAMD9","SAMD9L","SARS2","SBDS","SCARB2","SF3B1","SH2B3","SH2D1A","SHOC2","SLC46A1","SLC7A7","SLX4","SMARCAL1","SP110","SRC","SRP19","SRP54","SRP72","SRSF2","STAT3","STAT5B","STN1","STX11","STXBP2","TALDO1","TBL1XR1","TBXAS1","TCF3","TCIRG1","TCN2","TERC","TERT","TET2","TGFB1","TINF2","TLR8","TNFRSF4","TNFRSF9","TNFSF11","TP53","TYMS","UBE2T","UNC13D","USB1","VPS33A","WDR19","WRAP53","XIAP","XRCC4","ZBTB16","ZCCHC8","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_VON_WILLEBRAND_FACTOR":{"collection":"C5:HPO","systematicName":"M38027","pmid":"","exactSource":"HP:0012146","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012146","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_VON_WILLEBRAND_FACTOR","geneSymbols":["F8","FOXP2","GP1BA","GP1BB","GP6","GP9","IKZF5","ITGA2B","ITGB3","NBEAL2","SLC37A4","VWF"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SINGLE_LINEAGE_MYELODYSPLASIA":{"collection":"C5:HPO","systematicName":"M45451","pmid":"","exactSource":"HP:0012150","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012150","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SINGLE_LINEAGE_MYELODYSPLASIA","geneSymbols":["ERBB3","HSCB","HSPA9","SF3B1","TET2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HEMOTHORAX":{"collection":"C5:HPO","systematicName":"M43422","pmid":"","exactSource":"HP:0012151","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012151","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEMOTHORAX","geneSymbols":["COL3A1","EIF2AK4","ENG","EXT1","EXT2","SERPINF2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DECREASED_CORNEAL_SENSATION":{"collection":"C5:HPO","systematicName":"M43423","pmid":"","exactSource":"HP:0012155","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012155","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_CORNEAL_SENSATION","geneSymbols":["CHST6","FGF10","FGFR2","FGFR3","TGFBI"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HEMOPHAGOCYTOSIS":{"collection":"C5:HPO","systematicName":"M38029","pmid":"","exactSource":"HP:0012156","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012156","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEMOPHAGOCYTOSIS","geneSymbols":["CALR","CD27","DNASE2","HAVCR2","IFNG","ITK","JAK2","LYST","MPL","PIK3CG","PRF1","RAB27A","SH2B3","SH2D1A","SLC7A7","STX11","STXBP2","TLR8","UNC13D","XIAP","ZNFX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SUBCORTICAL_CEREBRAL_ATROPHY":{"collection":"C5:HPO","systematicName":"M38030","pmid":"","exactSource":"HP:0012157","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012157","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUBCORTICAL_CEREBRAL_ATROPHY","geneSymbols":["ACTB","ACTG1","ADGRV1","ALG3","CDH23","CIB2","COG7","EHMT1","ESPN","FGFR1","GCDH","HNF1B","KRAS","LHX1","MAN2B1","MBTPS2","MYO5A","MYO7A","PANK2","PCDH15","PDZD7","POGZ","SHPK","TCTN3","USH1C","USH1G","USH2A","WHRN"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CAROTID_ARTERY_DILATATION":{"collection":"C5:HPO","systematicName":"M45452","pmid":"","exactSource":"HP:0012163","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012163","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CAROTID_ARTERY_DILATATION","geneSymbols":["ACTA2","DCDC2","ELN","FBN1","FOXE3","HEY2","IPO8","LOX","MAT2A","MFAP5","MYH11","MYLK","PRKG1","SMAD2","SMAD3","SMAD4","STAT1","TGFB2","TGFB3","TGFBR1","TGFBR2","THSD4","TMEM67","TOM1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ASTERIXIS":{"collection":"C5:HPO","systematicName":"M41436","pmid":"","exactSource":"HP:0012164","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012164","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ASTERIXIS","geneSymbols":["ABCB11","ABCB4","ATP8B1","NR1H4","SLC25A13"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_OLIGODACTYLY":{"collection":"C5:HPO","systematicName":"M38031","pmid":"","exactSource":"HP:0012165","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012165","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OLIGODACTYLY","geneSymbols":["APC","BHLHA9","BRD4","BTRC","CHD7","COL25A1","CYP26B1","DLL4","DLX5","DLX6","DONSON","EPS15L1","ESCO2","FBXW4","GLI3","H4C3","HDAC8","HOXD13","KIF21A","LRP4","MBTPS2","NIPBL","PHOX2A","PORCN","RAD21","RECQL4","RIPK4","RPL26","SEM1","SF3B4","SMC1A","SMC3","SMOC1","TP63","TUBA1A","TUBB2B","TUBB3","WNT10B","WNT7A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SKIN_PICKING":{"collection":"C5:HPO","systematicName":"M41437","pmid":"","exactSource":"HP:0012166","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012166","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SKIN_PICKING","geneSymbols":["CHD5","CNTNAP2","HDAC4","HTR2A","KMT2E","MAGEL2","NDN","OCA2","SIM1","SLC6A4","SNRPN","USP7"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HAIR_PULLING":{"collection":"C5:HPO","systematicName":"M46224","pmid":"","exactSource":"HP:0012167","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012167","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HAIR_PULLING","geneSymbols":["EEF1A2","RFX7","SHANK3","SLC1A4","SLITRK1","VPS13A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HEAD_BANGING":{"collection":"C5:HPO","systematicName":"M41438","pmid":"","exactSource":"HP:0012168","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012168","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEAD_BANGING","geneSymbols":["DPAGT1","KAT5","MAPK1","PIGF","RAI1","SNRPN","SVBP","TAOK1","VPS13A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SELF_BITING":{"collection":"C5:HPO","systematicName":"M46225","pmid":"","exactSource":"HP:0012169","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012169","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SELF_BITING","geneSymbols":["ATP1A1","CEP104","DNM1L","FMR1","NEXMIF","NTRK1","PIDD1","RFX7","SYT1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_GLIOBLASTOMA_MULTIFORME":{"collection":"C5:HPO","systematicName":"M38033","pmid":"","exactSource":"HP:0012174","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012174","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GLIOBLASTOMA_MULTIFORME","geneSymbols":["APC","BMPR1A","BRCA2","CDKN2A","CHEK2","EPCAM","ERBB2","FAN1","IDH1","KRAS","MDM2","MLH1","MLH3","MSH2","MSH6","PIK3CA","PMS1","PMS2","RPS20","SEMA4A","TGFBR2","TP53"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_NATURAL_KILLER_CELL_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M38034","pmid":"","exactSource":"HP:0012176","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012176","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_NATURAL_KILLER_CELL_MORPHOLOGY","geneSymbols":["AP3B1","B2M","CARD9","CD3D","CD3E","CD70","DCLRE1B","DNMT3B","DOCK8","ELF4","FCGR3A","GATA2","GINS1","IKBKB","IL2RG","IL6ST","IRAK4","JAK3","KNSTRN","LAT","LYST","MCM10","MCM4","MYD88","NLRC4","PGM3","PIK3CD","PIK3CG","PIK3R1","PRKDC","PTPRC","RAG1","RAG2","RIPK1","SASH3","SP110","SYK","TOM1","ZAP70"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_REDUCED_NATURAL_KILLER_CELL_ACTIVITY":{"collection":"C5:HPO","systematicName":"M47204","pmid":"","exactSource":"HP:0012178","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012178","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_NATURAL_KILLER_CELL_ACTIVITY","geneSymbols":["AP3B1","FCGR3A","IKBKG","IL2RG","LCP2","NLRC4","PIK3CD","PRF1","PRKCD","SH2D1A","STX11","STXBP2","UNC13D","WAS","WIPF1","XIAP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ENTRAPMENT_NEUROPATHY":{"collection":"C5:HPO","systematicName":"M38036","pmid":"","exactSource":"HP:0012181","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012181","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ENTRAPMENT_NEUROPATHY","geneSymbols":["ARSB","B2M","CA2","COMP","GNAS","GNPTAB","GSN","IDS","IDUA","SH3TC2","TTR"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_OROPHARYNGEAL_SQUAMOUS_CELL_CARCINOMA":{"collection":"C5:HPO","systematicName":"M46226","pmid":"","exactSource":"HP:0012182","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012182","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OROPHARYNGEAL_SQUAMOUS_CELL_CARCINOMA","geneSymbols":["ATR","BRD4","CDKN2A","DKC1","NUTM1","STAT1","TOM1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INCREASED_ERYTHROCYTE_PROTOPORPHYRIN_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M47205","pmid":"","exactSource":"HP:0012187","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012187","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_ERYTHROCYTE_PROTOPORPHYRIN_CONCENTRATION","geneSymbols":["ALAD","ALAS2","CLPX","GATA1","UROS"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HODGKIN_LYMPHOMA":{"collection":"C5:HPO","systematicName":"M38037","pmid":"","exactSource":"HP:0012189","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012189","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HODGKIN_LYMPHOMA","geneSymbols":["AAGAB","ATM","CASP10","CD27","CD70","CDKN2A","CHEK2","COL14A1","DEF6","DKC1","FAS","FASLG","ITK","KLHDC8B","MAGT1","MDM2","PGM3","POLE","PRKCD","RASGRP1","RNF43","SOCS1","STAT3","STK4","TCF4","TNFRSF9","TP53"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_T_CELL_LYMPHOMA":{"collection":"C5:HPO","systematicName":"M38038","pmid":"","exactSource":"HP:0012190","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012190","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_T_CELL_LYMPHOMA","geneSymbols":["CASP10","CD28","CTLA4","FAS","FASLG","HAVCR2","MLH1","MSH6","NBN","POLE","PRKCD","RASGRP1","TNFRSF1B","TTC7A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_B_CELL_LYMPHOMA":{"collection":"C5:HPO","systematicName":"M38039","pmid":"","exactSource":"HP:0012191","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012191","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_B_CELL_LYMPHOMA","geneSymbols":["ADA","ATM","BCL10","BIRC3","CASP10","CCND1","FAS","FASLG","FCHO1","FOXP1","IKZF3","ITK","MAGT1","MALT1","NBN","NFATC2","PIK3R1","PRKCD","PTPRC","RASGRP1","SYK"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INSULINOMA":{"collection":"C5:HPO","systematicName":"M38040","pmid":"","exactSource":"HP:0012197","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012197","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INSULINOMA","geneSymbols":["CDKN1A","CDKN1B","CDKN2B","CDKN2C","MAFA","MEN1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_PROTHROMBIN":{"collection":"C5:HPO","systematicName":"M38041","pmid":"","exactSource":"HP:0012200","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012200","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_PROTHROMBIN","geneSymbols":["ACAD9","ADK","AGA","AHCY","AKR1D1","ALG12","AMACR","CD46","CFH","CFI","CLPB","COG8","CYP7B1","EFL1","F10","F2","F5","F7","F9","FAH","GFI1B","GGCX","GNE","GPR35","HADH","HELLPAR","HLA-DQA1","HLA-DQB1","HMGCL","LMAN1","MCFD2","MICOS13","MST1","MTTP","NBAS","NGLY1","NR1H4","OTC","PET100","PGM1","PLOD3","PMM2","PRF1","RINT1","SEMA4D","SLC25A13","SLC30A10","SLC37A4","SOS2","TCF4","TRMU","VKORC1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ONYCHOMYCOSIS":{"collection":"C5:HPO","systematicName":"M38042","pmid":"","exactSource":"HP:0012203","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012203","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ONYCHOMYCOSIS","geneSymbols":["ATR","CARD9","CARMIL2","CLEC7A","CYBC1","DOCK8","HPGD","IL12A","IL12RB1","IL17RC","IRF5","KRT1","MMEL1","NFKB2","PLCG2","POU2AF1","SDR9C7","SPIB","STAT1","TNFSF15","TNPO3","TRAF3IP2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_GLOBOZOOSPERMIA":{"collection":"C5:HPO","systematicName":"M46227","pmid":"","exactSource":"HP:0012205","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012205","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GLOBOZOOSPERMIA","geneSymbols":["C2CD6","CCDC62","CT55","DPY19L2","GGN","SPATA16","ZPBP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_SPERM_MOTILITY":{"collection":"C5:HPO","systematicName":"M38043","pmid":"","exactSource":"HP:0012206","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012206","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SPERM_MOTILITY","geneSymbols":["AK7","AKAP3","ALG5","ALG9","ARL2BP","ARMC2","BICC1","BRDT","CATIP","CATSPER1","CATSPER2","CCDC103","CCDC34","CCDC39","CCDC40","CCDC65","CCNO","CDC14A","CEP112","CFAP221","CFAP251","CFAP298","CFAP300","CFAP410","CFAP43","CFAP45","CFAP47","CFAP58","CFAP65","CFAP69","CFAP70","CFAP74","CFAP91","CT55","DNAAF1","DNAAF11","DNAAF2","DNAAF3","DNAAF4","DNAAF5","DNAAF6","DNAH1","DNAH10","DNAH11","DNAH17","DNAH2","DNAH5","DNAH7","DNAH8","DNAH9","DNAI1","DNAI2","DNAJB11","DNAJB13","DNAL1","DNALI1","DNHD1","DRC1","DZIP1","FBXO43","FOXJ1","FSIP2","GANAB","GAS2L2","GAS8","GBA2","HNF1B","HYDIN","IFT140","IFT74","KCNU1","KLHL10","LRRC56","MCIDAS","NEK10","NME5","NME8","ODAD1","ODAD2","ODAD3","ODAD4","OFD1","PDE11A","PDHA2","PKD1","PKD2","PMFBP1","PRKAR1A","RPGR","RPL10L","RSPH1","RSPH3","RSPH4A","RSPH9","SEPTIN12","SLC26A8","SPAG1","SPAG17","SPEF2","SPINK2","SSX1","STK36","STRC","SUN5","TEKT3","TTC12","TTC21A","TTC29","USP26","WDR19","ZMYND10"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_REDUCED_SPERM_MOTILITY":{"collection":"C5:HPO","systematicName":"M41439","pmid":"","exactSource":"HP:0012207","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012207","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_SPERM_MOTILITY","geneSymbols":["AK7","ALG5","ALG9","ARL2BP","ARMC2","BICC1","BRDT","CATIP","CATSPER1","CATSPER2","CCDC34","CCDC39","CEP112","CFAP251","CFAP298","CFAP410","CFAP43","CFAP47","CFAP58","CFAP69","CFAP91","CT55","DNAH1","DNAH10","DNAH17","DNAH2","DNAH7","DNAH8","DNAJB11","DNALI1","DNHD1","FSIP2","GANAB","GBA2","HNF1B","HYDIN","IFT140","KCNU1","KLHL10","PDHA2","PKD1","PKD2","PMFBP1","RSPH4A","RSPH9","SEPTIN12","SLC26A8","SPAG17","SPEF2","SSX1","STK36","STRC","SUN5","TTC21A","TTC29","USP26","ZMYND10"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_IMMOTILE_SPERM":{"collection":"C5:HPO","systematicName":"M38044","pmid":"","exactSource":"HP:0012208","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012208","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMMOTILE_SPERM","geneSymbols":["CATSPER1","CATSPER2","CCDC39","CCDC40","CDC14A","CFAP65","CFAP70","DNAAF5","DNAJB13","DZIP1","GAS2L2","IFT74","RSPH9","SPINK2","STRC"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_JUVENILE_MYELOMONOCYTIC_LEUKEMIA":{"collection":"C5:HPO","systematicName":"M38045","pmid":"","exactSource":"HP:0012209","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012209","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_JUVENILE_MYELOMONOCYTIC_LEUKEMIA","geneSymbols":["ARHGAP26","BRAF","CBL","KRAS","MAP2K1","NF1","NRAS","PTPN11"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_RENAL_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M38046","pmid":"","exactSource":"HP:0012210","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012210","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RENAL_MORPHOLOGY","geneSymbols":["ABCC6","ABCC8","ABCG5","ABCG8","ACE","ACP5","ACSL4","ACTB","ACTG1","ACTG2","ACTN4","ACVRL1","ADA","ADA2","ADAMTS3","ADAMTSL1","ADAT3","ADCY10","ADGRG2","ADNP","AFF3","AFF4","AGPAT2","AGT","AGTR1","AGXT","AHI1","AIP","AIRE","AKR1D1","AKT1","AKT3","ALDH18A1","ALG5","ALG8","ALG9","ALKBH8","ALMS1","ALPL","AMER1","AMMECR1","ANKFY1","ANKLE2","ANKRD17","ANKS6","ANLN","ANOS1","ANTXR1","AP2S1","APC","APC2","APOB","APOE","APOL1","APPL1","APRT","ARHGAP24","ARHGDIA","ARID1A","ARID1B","ARID2","ARL3","ARL6","ARL6IP6","ARMC5","ARNT2","ARPC4","ARSK","ARVCF","ARX","ASPM","ASXL2","ATN1","ATP1A1","ATP5F1A","ATP5F1D","ATP5F1E","ATP5MK","ATP6V0A4","ATP6V1B1","ATP6V1B2","ATP6V1E1","ATP7A","ATP7B","ATPAF1","ATPAF2","ATRX","AVIL","B2M","B3GALT6","B3GLCT","B4GAT1","B9D1","B9D2","BANK1","BAP1","BAZ1B","BBIP1","BBS1","BBS10","BBS12","BBS2","BBS4","BBS5","BBS7","BBS9","BCL7B","BCOR","BCS1L","BICC1","BICRA","BLK","BMP4","BMPER","BNC2","BRAF","BRCA1","BRCA2","BRD4","BRF1","BRIP1","BSCL2","BSND","BTNL2","BUB1","BUB1B","BUB3","BUD23","C1QA","C2CD3","C3","C4A","C4B","CA2","CACNA1D","CAMK2A","CAMKMT","CAPN15","CASK","CASP10","CASR","CASZ1","CC2D2A","CCBE1","CCDC141","CCDC22","CCND1","CCND2","CCNQ","CCR1","CD151","CD2AP","CD81","CD96","CDC42","CDC42BPB","CDC73","CDK5RAP2","CDK6","CDKL5","CDKN1A","CDKN1B","CDKN1C","CDKN2B","CDKN2C","CDON","CEACAM3","CEACAM6","CEL","CENPE","CENPF","CENPJ","CEP120","CEP135","CEP152","CEP164","CEP19","CEP290","CEP41","CEP55","CEP57","CEP63","CEP83","CFAP418","CFH","CFHR5","CFI","CFTR","CHD7","CHKA","CHN1","CHRM3","CHRNA3","CHST14","CHUK","CILK1","CIT","CLCA4","CLCN3","CLCN5","CLCN7","CLCNKA","CLCNKB","CLDN10","CLDN16","CLDN19","CLDN2","CLIP2","CLPB","COG1","COG6","COG7","COL18A1","COL4A1","COL4A3","COL4A4","COL4A5","COL7A1","COLEC10","COLEC11","COMT","COPA","COPB2","COQ2","COQ6","COQ7","COQ8B","COX14","CPLANE1","CPT2","CR2","CRB2","CREBBP","CRTAP","CSPP1","CTH","CTLA4","CTNNB1","CTNS","CTU2","CWC27","CYP24A1","DAAM2","DACT1","DCC","DCDC2","DCHS1","DCTN4","DDB1","DDX59","DDX6","DEAF1","DGKE","DHCR24","DHCR7","DHX16","DICER1","DIS3L2","DISP1","DKC1","DLK1","DLL1","DLL4","DLST","DMXL2","DNA2","DNAJB11","DNAJC21","DNAJC30","DNASE1","DNASE1L3","DNASE2","DNMT3A","DPF2","DPH1","DPH2","DPYSL5","DSE","DSTYK","DUSP6","DVL1","DYNC2H1","DYNC2I1","DYNC2I2","DYNC2LI1","DYRK1A","DZIP1L","EBP","EDNRA","EHMT1","EIF4H","ELN","ELP1","EMP2","EN1","ENG","ENPP1","EP300","EPAS1","ERAP1","ERBB3","ERCC4","ERCC6","ERCC8","ESCO2","ETFA","ETFB","ETFDH","ETS1","EVC","EVC2","EXTL3","EYA1","FAH","FAM149B1","FAM20A","FAM20C","FAN1","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FAS","FASLG","FAT4","FBLN5","FBN1","FBXW11","FCGR2A","FCGR2B","FCGR3B","FEZF1","FGF10","FGF13","FGF17","FGF20","FGF23","FGF8","FGFR1","FGFR2","FGFR3","FH","FIBP","FIG4","FKBP6","FKRP","FKTN","FLCN","FLI1","FLII","FLNA","FLNB","FLRT3","FN1","FOCAD","FOXC2","FOXF1","FOXH1","FOXP3","FRAS1","FREM1","FREM2","FUT8","FUZ","G6PC1","G6PC3","GABRD","GALNT3","GANAB","GAPVD1","GAS1","GATA1","GATA3","GBE1","GCK","GCLC","GCM2","GDF2","GDF3","GDF6","GEMIN4","GFRA1","GLA","GLI1","GLI2","GLI3","GLIS2","GLIS3","GLMN","GNA11","GNAO1","GNAS","GNB1","GNB2","GNPTAB","GON7","GP1BA","GP1BB","GP9","GPC3","GPC4","GPKOW","GRB10","GREB1L","GRHPR","GRIA3","GRIN1","GRIP1","GRM7","GSTM3","GTF2I","GTF2IRD1","GTF2IRD2","H4C3","H4C5","H4C9","HAAO","HDAC4","HDAC8","HEATR3","HESX1","HFE","HGD","HIRA","HLA-B","HLA-DPA1","HLA-DPB1","HLA-DRB1","HMGA2","HMOX1","HNF1A","HNF1B","HNF4A","HNRNPH1","HNRNPK","HNRNPU","HOGA1","HOXD13","HPRT1","HPSE2","HRAS","HS2ST1","HS6ST1","HSD11B2","HSD17B4","HSPA9","HSPG2","HYLS1","IARS1","IDH1","IFNG","IFNGR1","IFT122","IFT140","IFT172","IFT27","IFT43","IFT74","IFT80","IGF2","IGHG1","IL10","IL12A","IL12A-AS1","IL17RD","IL23R","INF2","INPP5E","INS","INSL3","INSR","INTS1","INTU","INVS","IPO8","IQCB1","IQSEC2","IRAK1","IRF5","ITGA3","ITGA6","ITGA8","ITGAM","ITGB4","JAG1","JAK1","JAM3","JAZF1","JMJD1C","KANK2","KANSL1","KAT5","KAT6A","KAT6B","KCNA1","KCNAB2","KCNE5","KCNH1","KCNJ1","KCNJ11","KCNJ2","KCNJ5","KCNN4","KCNQ1","KCNQ1OT1","KCTD1","KDM6A","KIAA0319L","KIAA0586","KIAA0753","KIF14","KIF1B","KIF7","KIRREL1","KL","KLF11","KLRC4","KMT2A","KMT2D","KNL1","KNSTRN","KRAS","KRT17","KYNU","LAGE3","LAMA3","LAMA5","LAMB2","LAMB3","LAMC2","LARGE1","LDLR","LDLRAP1","LEMD3","LHX1","LIG1","LIG4","LIMK1","LMBRD1","LMNA","LMNB1","LMNB2","LMOD1","LMX1B","LONP1","LPIN2","LRIG2","LRP4","LRP5","LTBP4","LUZP1","LZTFL1","MAD2L2","MAFB","MAGED2","MAGI2","MAP2K1","MAP2K2","MAP3K7","MAPK1","MAPKBP1","MASP1","MAX","MBTPS2","MCM5","MCM7","MCPH1","MCTP2","MDH2","MDM2","MECP2","MED11","MED12","MED25","MEFV","MEG3","MEN1","MEOX1","METTL27","METTL5","MFSD2A","MGME1","MIA3","MID1","MIF","MKKS","MKS1","MLXIPL","MMACHC","MME","MMP1","MMP23B","MMUT","MNX1","MOCOS","MOCS1","MOCS2","MPDU1","MPI","MRPL3","MRPS22","MRPS34","MSH3","MT-ATP6","MT-ATP8","MT-CO1","MT-CO2","MT-CO3","MT-CYB","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND5","MT-ND6","MT-TE","MT-TF","MT-TH","MT-TK","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TV","MT-TW","MTRR","MTX2","MUC1","MYCN","MYH11","MYL9","MYLK","MYMK","MYMX","MYO1E","MYO5B","MYOCD","MYOD1","MYRF","NAA10","NADSYN1","NARS2","NBN","NCAPD3","NCAPG2","NCF1","NDNF","NDUFAF3","NDUFAF6","NEK1","NEK8","NEUROD1","NEUROD2","NF1","NFIA","NHERF1","NIPBL","NLRP3","NOD2","NODAL","NOS1AP","NOTCH2","NPHP1","NPHP3","NPHP4","NPHS1","NPHS2","NRAS","NRIP1","NSD1","NSD2","NSDHL","NSUN2","NUP107","NUP133","NUP160","NUP205","NUP37","NUP85","NUP93","NXN","OCRL","OFD1","OPLAH","OSGEP","OTUD5","OXGR1","PACS1","PAH","PALB2","PAX1","PAX2","PAX4","PAX7","PBX1","PCK1","PCK2","PCSK9","PDCD1","PDCD6IP","PDE6D","PDHA1","PDPN","PDX1","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PGAP2","PGAP3","PGM1","PGM3","PHC1","PHGDH","PI4KA","PIDD1","PIEZO2","PIGA","PIGL","PIGN","PIGO","PIGP","PIGQ","PIGT","PIGV","PIGW","PIGY","PIK3C2A","PIK3CA","PIK3CD","PIK3R2","PKD1","PKD2","PKHD1","PLCD1","PLCE1","PLD1","PLEC","PLG","PLVAP","PLXNA1","PMM2","PNKP","PNPLA2","POGZ","POLE","POLR3A","POLRMT","POMT1","POMT2","POR","PORCN","POU3F4","PPFIBP1","PPM1B","PPP1R15B","PPP2R1A","PPP2R3C","PPP3CA","PQBP1","PRDM16","PREPL","PRIM1","PRKACA","PRKACB","PRKAG2","PRKAR1A","PRKCD","PRKCSH","PRKCZ","PRMT7","PROK2","PROKR2","PRPS1","PRTN3","PSMC1","PTCH1","PTEN","PTH","PTH1R","PTPN11","PTPN22","PTPRO","PUF60","PUS3","PXK","PYCR2","RAB18","RAB23","RAB3GAP1","RAB3GAP2","RAD21","RAD51","RAD51C","RAF1","RAI1","RARB","RASGRP1","RBBP8","RBM10","RBM8A","RECQL4","REN","RERE","RET","RFC2","RFWD3","RFX7","RIPK4","RMND1","RNU4ATAC","RNU7-1","ROBO1","ROBO2","ROR2","RORA","RPGRIP1","RPGRIP1L","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS7","RRAGD","RREB1","RSPO2","RTL1","RTTN","SAA1","SALL1","SALL4","SARS1","SARS2","SASS6","SBDS","SC5D","SCAPER","SCARB2","SCARF2","SCLT1","SCN1B","SCN2A","SDCCAG8","SDHA","SDHAF2","SDHB","SDHC","SDHD","SEC24C","SEC61A1","SEC63","SEMA3A","SEMA3E","SERPINA1","SERPINH1","SETBP1","SETD2","SF3B2","SF3B4","SGPL1","SH2B1","SHANK3","SHH","SHOC2","SHPK","SI","SIK1","SIX1","SIX3","SIX5","SKI","SKIC2","SKIC3","SLC11A1","SLC12A1","SLC12A3","SLC1A1","SLC1A2","SLC22A12","SLC25A11","SLC25A22","SLC26A1","SLC26A9","SLC29A3","SLC2A2","SLC2A9","SLC30A9","SLC32A1","SLC34A1","SLC34A2","SLC34A3","SLC35A2","SLC36A2","SLC37A4","SLC3A1","SLC41A1","SLC4A1","SLC5A1","SLC6A14","SLC6A17","SLC7A7","SLC7A9","SLC9A3","SLX4","SMAD4","SMARCA4","SMARCAL1","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SMC1A","SMC3","SMO","SMOC1","SMS","SNRPB","SOCS1","SON","SOS1","SOX10","SOX11","SOX17","SOX18","SOX4","SOX9","SPART","SPECC1L","SPEN","SPINK5","SPINT2","SPOP","SPP1","SPRED1","SPRY2","SPRY4","SRCAP","SRP54","SRY","SSR4","STAG1","STAT1","STAT4","STIL","STK11","STRA6","STRADA","STS","STX1A","STX3","SUCLG1","SUFU","TACR3","TAF13","TAPT1","TASP1","TBC1D20","TBC1D24","TBC1D7","TBC1D8B","TBCK","TBL2","TBX1","TBX15","TBX18","TBX22","TBX3","TBXT","TCTN1","TCTN2","TCTN3","TDGF1","TELO2","TFAP2A","TGFB1","TGIF1","THOC6","TKT","TLR4","TLR7","TMCO1","TMEM107","TMEM127","TMEM138","TMEM216","TMEM218","TMEM231","TMEM237","TMEM260","TMEM270","TMEM67","TNFAIP3","TNFSF4","TNIP1","TNXB","TOGARAM1","TOM1","TOPORS","TOR1A","TP53RK","TP63","TPRKB","TRAF3IP1","TRAPPC10","TRAPPC14","TREX1","TRIM32","TRIM8","TRIP11","TRIP13","TRNT1","TRPC6","TRPV6","TRRAP","TSC1","TSC2","TSR2","TTC21B","TTC26","TTC8","TULP3","TXNDC15","TXNL4A","UBA2","UBAC2","UBE2A","UBE2L3","UBE2T","UBE4B","UBR1","UFD1","UMOD","USP18","USP8","USP9X","VAC14","VANGL1","VDR","VHL","VIPAS39","VPS33A","VPS33B","VPS35L","VPS37D","VPS45","WAC","WARS1","WAS","WASHC5","WBP11","WDPCP","WDR11","WDR19","WDR35","WDR4","WDR62","WDR73","WFS1","WIPF1","WLS","WNT3","WNT4","WNT5A","WNT7B","WNT9B","WT1","XDH","XPNPEP3","XRCC2","XRCC4","YRDC","YY1","YY1AP1","ZAP70","ZBTB18","ZEB2","ZIC2","ZIC3","ZMIZ1","ZMYM2","ZNF148","ZNF423","ZNF687","ZNF699","ZNFX1","ZPR1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_RENAL_PHYSIOLOGY":{"collection":"C5:HPO","systematicName":"M38047","pmid":"","exactSource":"HP:0012211","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012211","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RENAL_PHYSIOLOGY","geneSymbols":["ABCA12","ABCC6","ABCC8","ACE","ACP5","ACSL4","ACTN4","ACVRL1","ADA","ADA2","ADAMTS13","AGGF1","AGT","AGTR1","AGXT","AHI1","ALDH18A1","ALDH4A1","ALDOA","ALDOB","ALG1","ALG5","ALG9","ALMS1","ALOX12B","ALOXE3","AMMECR1","AMN","ANKFY1","ANKS6","ANLN","AP1S3","AP2S1","APC2","APOA1","APOE","APOL1","APPL1","APRT","AQP2","ARHGAP24","ARHGDIA","ARL6","ASPRV1","ATP1A1","ATP6V0A4","ATP6V1B1","ATP7B","AVIL","AVPR2","B2M","BANK1","BAZ1B","BBIP1","BBS1","BBS10","BBS12","BBS2","BBS4","BBS5","BBS7","BBS9","BCL7B","BCOR","BCS1L","BICC1","BLK","BNC2","BRCA1","BRCA2","BRD4","BRIP1","BSND","BTNL2","BUD23","C1QA","C1QBP","C3","C4A","C4B","CA2","CACNA1S","CAD","CASP10","CASR","CAV1","CC2D2A","CCN2","CCND1","CCNQ","CCR1","CCR6","CD109","CD151","CD2AP","CD46","CD81","CDC73","CDK4","CEL","CEP120","CEP164","CEP19","CEP290","CEP83","CFAP418","CFB","CFH","CFHR1","CFHR3","CFHR5","CFI","CHD4","CHD7","CHRM3","CHRNA3","CHST14","CISD2","CLCN5","CLCNKA","CLCNKB","CLDN10","CLDN16","CLDN19","CLEC7A","CLIP2","CLPB","CNNM2","COA8","COG1","COG6","COL3A1","COL4A1","COL4A3","COL4A4","COL4A5","COL4A6","COL7A1","COPA","COQ2","COQ6","COQ8B","CORIN","CPOX","CPT1A","CPT2","CR2","CRB2","CSPP1","CTLA4","CTNS","CUBN","CYB561","CYBC1","CYP24A1","CYP4F22","DAAM2","DACT1","DCDC2","DCLRE1C","DGKE","DHDDS","DHX37","DIS3L2","DLST","DMP1","DMRT3","DNAJB11","DNAJC30","DNASE1","DNASE1L3","DNASE2","DNMT3A","DPH1","DSTYK","DYNC2H1","DYNC2I1","DYNC2I2","DYNC2LI1","DZIP1L","EFEMP2","EHHADH","EHMT1","EIF2AK3","EIF4H","ELN","ELP1","EMP2","ENG","ENPP1","EPAS1","EPG5","ERAP1","ERCC4","ERCC6","ERCC8","ETFA","ETFB","ETFDH","ETS1","EYA1","F10","F2","F5","F8","FAH","FAM20A","FAN1","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FAS","FASLG","FBLN5","FBXL4","FCGR2A","FCGR2B","FCGR3B","FGA","FH","FIG4","FIP1L1","FKBP6","FLT1","FN1","FOXI1","FOXP3","FOXRED1","FUZ","FXYD2","G6PC1","GALNT3","GANAB","GAPVD1","GATA3","GATA4","GATM","GBA1","GCDH","GCK","GCM2","GDF2","GLA","GLIS2","GNAS","GON7","GP1BA","GP1BB","GP9","GPC3","GPR35","GRHPR","GSN","GTF2I","GTF2IRD1","GTF2IRD2","H19","HBB","HDAC8","HELLPAR","HGD","HIC1","HLA-B","HLA-DPA1","HLA-DPB1","HLA-DRB1","HMBS","HMGA2","HMOX1","HNF1A","HNF1B","HNF4A","HNRNPK","HOGA1","HOXA13","HPRT1","HPS1","HPSE2","HRAS","HSD11B2","IFIH1","IFNG","IFNGR1","IFT122","IFT140","IFT172","IFT27","IFT43","IFT74","IFT80","IGHG1","IKZF1","IL10","IL12A","IL12A-AS1","IL17F","IL17RA","IL17RC","IL23R","IL2RG","IL36RN","IL6","IL7R","INF2","INPP5E","INS","INVS","IQCB1","IRAK1","IRF2BP2","IRF5","ITGA2","ITGA2B","ITGA3","ITGA6","ITGAM","ITGB3","ITGB4","ITPR3","JAG1","JAK1","JAZF1","KANK2","KARS1","KCNE5","KCNJ1","KCNJ10","KCNJ11","KCNJ2","KCNJ5","KCTD1","KIAA0319L","KIAA0586","KIAA0753","KIF1B","KIRREL1","KL","KLF11","KLRC4","KYNU","LAGE3","LAMA5","LAMB2","LARS2","LCAT","LDHA","LHX1","LIG4","LIMK1","LIPN","LMAN1","LMNB2","LMX1B","LPIN1","LPIN2","LRIG2","LRP2","LTBP1","LYZ","LZTFL1","MAD2L2","MAFB","MAGED2","MAGI2","MAP3K1","MAPKBP1","MARS1","MAX","MCFD2","MDH2","MDM2","MECP2","MED12","MEFV","MEN1","METTL27","MKKS","MKS1","MLXIPL","MMACHC","MME","MMP1","MMUT","MOCOS","MPI","MST1","MT-CO1","MT-CO2","MT-CO3","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND5","MT-ND6","MT-TE","MT-TF","MT-TH","MT-TK","MT-TL1","MT-TN","MT-TQ","MT-TS1","MT-TS2","MT-TT","MT-TW","MTRR","MUC1","MYCN","MYD88","MYH11","MYH9","MYO1E","MYO5B","MYOCD","NABP1","NADK2","NCF1","NDUFA1","NDUFA11","NDUFA6","NDUFAF1","NDUFAF2","NDUFAF3","NDUFAF4","NDUFAF5","NDUFAF6","NDUFAF8","NDUFB10","NDUFB11","NDUFB3","NDUFB9","NDUFS1","NDUFS2","NDUFS3","NDUFS4","NDUFS6","NDUFS7","NDUFS8","NDUFV1","NDUFV2","NEK8","NEUROD1","NEXMIF","NF1","NFS1","NIPAL4","NIPBL","NLRP3","NOD2","NOS1AP","NOTCH2","NPHP1","NPHP3","NPHP4","NPHS1","NPHS2","NPM1","NR0B1","NR5A1","NSD1","NTRK1","NUBPL","NUMA1","NUP107","NUP133","NUP160","NUP205","NUP37","NUP85","NUP93","OBSCN","OCLN","OCRL","OFD1","OSGEP","P4HA2","PAFAH1B1","PALB2","PAX2","PAX4","PAX6","PBX1","PC","PDCD1","PDSS2","PDX1","PEX19","PEX7","PFKM","PGAM2","PGK1","PGM3","PHEX","PHKA2","PHKB","PHKG2","PHYH","PIGA","PKD1","PKD2","PKDCC","PKHD1","PLCE1","PLG","PLVAP","PML","PMM2","PNPLA6","POLRMT","POU6F2","PPOX","PRDX1","PRF1","PRKAR1A","PRKCD","PRODH","PRPS1","PRTN3","PTPN22","PTPRO","PUS3","PXK","PYGM","RAD21","RAD51","RAD51C","RAG1","RAG2","RARA","RASA1","RASGRP1","REN","REST","RET","RFC2","RFWD3","RMND1","RMRP","RNU7-1","ROBO1","RPGRIP1L","RRAGD","RRM2B","RYR1","SAA1","SALL1","SARS2","SAT1","SCAPER","SCARB2","SCLT1","SCNN1A","SCNN1B","SCNN1G","SDCCAG8","SDHA","SDHAF2","SDHB","SDHC","SDHD","SDR9C7","SEC61A1","SEMA4D","SERPINA1","SERPINF2","SETD2","SGPL1","SH2B1","SHANK3","SHPK","SIX1","SIX5","SLC12A1","SLC12A3","SLC17A5","SLC22A12","SLC25A11","SLC25A20","SLC26A1","SLC26A4","SLC2A2","SLC2A9","SLC30A9","SLC34A1","SLC34A2","SLC34A3","SLC35A2","SLC37A4","SLC3A1","SLC41A1","SLC4A1","SLC4A2","SLC4A4","SLC5A1","SLC5A2","SLC7A7","SLC7A9","SLX4","SMAD4","SMARCAL1","SMC1A","SMC3","SNAP29","SOCS1","SON","SOX18","SOX9","SPP1","SPRY2","SPTBN1","SRCAP","SREBF1","SRY","STAT1","STAT2","STAT3","STAT4","STAT5B","STIM1","STOX1","STS","STX11","STX1A","STX3","STXBP2","SULT2B1","SURF1","TAOK1","TBC1D8B","TBL1XR1","TBL2","TBX1","TBX18","TCF4","TCN2","TGM1","THBD","TIMMDC1","TLR4","TLR7","TMEM126B","TMEM127","TMEM138","TMEM165","TMEM216","TMEM231","TMEM237","TMEM260","TMEM270","TMEM67","TNFAIP3","TNFSF4","TNIP1","TOM1","TP53RK","TPRKB","TRAF3IP1","TRAF3IP2","TREX1","TRIM28","TRIM32","TRIM8","TRIP13","TRMT5","TRPC6","TSC1","TSC2","TTC21B","TTC26","TTC8","TTR","UBAC2","UBE2L3","UBE2T","UMOD","UMPS","UNC13D","UQCC2","VAC14","VAMP7","VANGL1","VHL","VIPAS39","VPS33A","VPS33B","VPS37D","WAS","WDPCP","WDR19","WDR35","WDR4","WDR73","WFS1","WIPF1","WT1","WWOX","XDH","XPNPEP3","XRCC2","XYLT1","XYLT2","YAP1","YRDC","YWHAE","YY1AP1","ZAP70","ZBTB16","ZFPM2","ZMPSTE24","ZNF423","ZNF592","ZNF699","ZNFX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DECREASED_GLOMERULAR_FILTRATION_RATE":{"collection":"C5:HPO","systematicName":"M47206","pmid":"","exactSource":"HP:0012213","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012213","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_GLOMERULAR_FILTRATION_RATE","geneSymbols":["AGXT","ALG5","ALG9","BICC1","BSND","CASR","CLCNKA","CLCNKB","CYB561","DNAJB11","G6PC1","GANAB","HGD","IFT140","ITGA3","MUC1","PAX2","PBX1","PKD1","PKD2","PUS3","SLC22A12","SLC2A9","SLC34A1","SLC37A4","SLC7A7","UMOD"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INCREASED_URINARY_PORPHOBILINOGEN":{"collection":"C5:HPO","systematicName":"M46228","pmid":"","exactSource":"HP:0012217","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012217","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_URINARY_PORPHOBILINOGEN","geneSymbols":["ALAD","CPOX","GATA1","HMBS","PPOX","UROS"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ERYTHEMA_NODOSUM":{"collection":"C5:HPO","systematicName":"M38049","pmid":"","exactSource":"HP:0012219","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012219","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ERYTHEMA_NODOSUM","geneSymbols":["ADA2","BTNL2","HLA-DRB1","LBR","LRBA","NLRP12","NOD2","PIK3R1","PSMB8","XIAP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ARACHNOID_HEMANGIOMATOSIS":{"collection":"C5:HPO","systematicName":"M38050","pmid":"","exactSource":"HP:0012222","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012222","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ARACHNOID_HEMANGIOMATOSIS","geneSymbols":["DLST","FH","GNAQ","KIF1B","MAX","MDH2","NF1","RET","SDHA","SDHAF2","SDHB","SDHC","SDHD","SLC25A11","TMEM127","VHL"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_URETHRAL_STRICTURE":{"collection":"C5:HPO","systematicName":"M38051","pmid":"","exactSource":"HP:0012227","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012227","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_URETHRAL_STRICTURE","geneSymbols":["CDC45","COL7A1","FERMT1","FLT4","ITGA6","ITGB4","LAMA3","LAMB3","LAMC2","MKKS","MMP1","PKP1","PLEC","POLA1","TERT","TINF2","ZMYM2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CSF_PLEOCYTOSIS":{"collection":"C5:HPO","systematicName":"M38052","pmid":"","exactSource":"HP:0012229","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012229","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CSF_PLEOCYTOSIS","geneSymbols":["ADAR","ATP1A2","CACNA1A","IFIH1","IRF3","LSM11","NOTCH2NLC","PRF1","PRRT2","RNASEH2A","RNASEH2B","RNASEH2C","RNU7-1","SAMHD1","SCN1A","SLC13A3","STX11","STXBP2","TBK1","TICAM1","TLR3","TRAF3","TREX1","UNC13D","UNC93B1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RHEGMATOGENOUS_RETINAL_DETACHMENT":{"collection":"C5:HPO","systematicName":"M43425","pmid":"","exactSource":"HP:0012230","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012230","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RHEGMATOGENOUS_RETINAL_DETACHMENT","geneSymbols":["COL2A1","CTNNB1","FZD4","LCA5","LRAT","LRP5","NDP","RPE65","SPATA7","TSPAN12","ZNF408"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_EXUDATIVE_RETINAL_DETACHMENT":{"collection":"C5:HPO","systematicName":"M43426","pmid":"","exactSource":"HP:0012231","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012231","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EXUDATIVE_RETINAL_DETACHMENT","geneSymbols":["CFH","CFI","EFEMP1","FRG1","IGFBP7"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SHORTENED_QT_INTERVAL":{"collection":"C5:HPO","systematicName":"M38053","pmid":"","exactSource":"HP:0012232","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012232","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORTENED_QT_INTERVAL","geneSymbols":["CACNA1C","CACNA2D1","CACNB2","CDC73","CDKN1A","CDKN1B","CDKN2B","CDKN2C","KCNH2","KCNJ2","KCNQ1","MEN1","SLC4A3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INTRAMUSCULAR_HEMATOMA":{"collection":"C5:HPO","systematicName":"M38054","pmid":"","exactSource":"HP:0012233","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012233","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTRAMUSCULAR_HEMATOMA","geneSymbols":["F10","F13A1","F13B","F2","F7","F8","SERPINE1","SERPINF2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INCREASED_INTRAMYOCELLULAR_LIPID_DROPLETS":{"collection":"C5:HPO","systematicName":"M38055","pmid":"","exactSource":"HP:0012240","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012240","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_INTRAMYOCELLULAR_LIPID_DROPLETS","geneSymbols":["ABHD5","AFG3L2","CACNA1S","CHCHD10","COQ8A","COX6A2","GABRA3","ISCU","KCNE3","KCNJ18","MIPEP","MSTO1","MT-TN","MT-TS1","NDUFA4","NDUFS4","PNPLA2","SCN4A","SDHA","STAC3","SUCLG1","SURF1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_REPRODUCTIVE_SYSTEM_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M47207","pmid":"","exactSource":"HP:0012243","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012243","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_REPRODUCTIVE_SYSTEM_MORPHOLOGY","geneSymbols":["AAGAB","AARS1","ABCA4","ABL1","ACTA1","ACTB","ACTL9","ADA2","ADAR","ADAT3","ADGRG2","ADH5","AFF4","AGBL5","AGPAT2","AHI1","AHR","AIP","AK7","AKAP3","AKR1C2","AKR1C4","AKT1","AKT2","ALG12","ALG9","ALKBH8","ALMS1","ALOX12B","ALOXE3","ALX4","AMH","AMHR2","ANK1","ANKRD11","ANOS1","ANTXR2","APC","APC2","AR","ARCN1","ARHGAP31","ARHGEF18","ARID1A","ARID1B","ARID2","ARL2BP","ARL3","ARL6","ARL6IP6","ARMC2","ARNT2","ARVCF","ARX","ATAD3A","ATIC","ATM","ATP6AP2","ATP6V1A","ATP6V1B2","ATP6V1E1","ATR","ATRX","AURKA","AURKC","AXIN1","AXIN2","AXL","B3GALNT2","B3GLCT","B4GAT1","B9D1","B9D2","BARD1","BAX","BAZ1B","BBIP1","BBS1","BBS10","BBS12","BBS2","BBS4","BBS5","BBS7","BBS9","BCL7B","BCOR","BDNF","BEST1","BICRA","BLTP1","BMP15","BMP4","BMPR1A","BMPR1B","BNC1","BRAF","BRCA1","BRCA2","BRCC3","BRD4","BRDT","BRIP1","BSCL2","BTK","BTNL2","BUB1","BUB1B","BUB3","BUD23","C14orf39","C2CD3","C2CD6","CA4","CAMK2A","CAPN15","CARS1","CASK","CASZ1","CATIP","CATSPER2","CAV1","CAVIN1","CBX2","CC2D2A","CCDC141","CCDC22","CCDC28B","CCDC34","CCDC62","CCDC8","CCND1","CCNQ","CD96","CDC14A","CDC42","CDC42BPB","CDC45","CDC6","CDC73","CDCA7","CDH1","CDH11","CDH2","CDHR1","CDKL5","CDKN1B","CDKN1C","CDKN2A","CDON","CDT1","CEACAM3","CEACAM6","CENPT","CEP112","CEP120","CEP152","CEP19","CEP290","CEP41","CEP57","CERKL","CFAP251","CFAP418","CFAP43","CFAP44","CFAP47","CFAP58","CFAP65","CFAP69","CFAP70","CFAP74","CFAP91","CFTR","CHD4","CHD7","CHEK2","CHRM3","CHRNA3","CHRNG","CIDEC","CILK1","CKAP2L","CLCA4","CLDN2","CLEC7A","CLIP2","CLMP","CLPP","CLRN1","CNGA1","CNGB1","COG1","COG5","COL14A1","COL1A1","COL3A1","COL4A1","COL4A5","COL4A6","COL5A1","COL5A2","COL7A1","COLEC10","COLEC11","COMT","COQ6","CORIN","COX7B","CPE","CPLX1","CRB1","CREBBP","CRPPA","CRX","CSPP1","CT55","CTBP1","CTC1","CTCF","CTDP1","CTLA4","CTNNB1","CTU2","CUL4B","CUL7","CUX1","CXCR4","CYB5A","CYP11A1","CYP11B1","CYP11B2","CYP17A1","CYP19A1","CYP21A2","DACT1","DAG1","DAZ1","DAZ2","DAZ3","DAZ4","DCAF17","DCC","DCHS1","DCLRE1C","DCTN4","DCX","DDB1","DDB2","DDX3Y","DDX6","DHCR24","DHCR7","DHDDS","DHH","DHODH","DHX37","DHX38","DICER1","DIS3L2","DISP1","DKC1","DLC1","DLK1","DLL1","DLL3","DMRT1","DMRT3","DMXL2","DNAH1","DNAH10","DNAH17","DNAH2","DNAH7","DNAH8","DNAJC19","DNAJC30","DNALI1","DNHD1","DPF2","DPM1","DPM2","DPP9","DPY19L2","DPYSL5","DRC1","DTYMK","DUSP6","DVL1","DVL3","DYNC2H1","DYNC2I1","DYNC2I2","DYNC2LI1","DYRK1A","DZIP1","EBF3","ECE1","ECEL1","EDNRA","EED","EFNB1","EHMT1","EIF2S3","EIF4H","ELN","EP300","EPCAM","EPG5","EPHB2","ERAL1","ERBB2","ERCC2","ERCC3","ERCC4","ERCC5","ERCC6","ERCC8","ERMARD","ESCO2","ESR1","ESR2","EVC","EVC2","EWSR1","EXT2","EYS","EZH2","F7","FAM111A","FAM161A","FAN1","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FARSB","FAT4","FBN1","FBXL4","FBXO43","FDFT1","FDXR","FERMT1","FEZF1","FGD1","FGF10","FGF17","FGF20","FGF8","FGFR1","FGFR2","FGFR3","FGFRL1","FH","FIG4","FIGLA","FKBP6","FKRP","FKTN","FLCN","FLI1","FLNA","FLRT3","FLT1","FMR1","FOCAD","FOS","FOXA2","FOXC1","FOXE1","FOXF1","FOXH1","FOXL2","FRAS1","FREM1","FREM2","FSCN2","FSHB","FSHR","FSIP2","FUZ","FXR1","FZD2","GABRD","GAD1","GAS1","GATA1","GATA2","GATA3","GATA4","GATAD2B","GBA2","GCLC","GFRA1","GGN","GH1","GHR","GLI1","GLI2","GLI3","GLYCTK","GMNN","GMPPB","GNA11","GNAO1","GNAS","GNB2","GNRH1","GNRHR","GP1BB","GPC3","GPC4","GPR101","GPR161","GRB10","GREB1L","GREM1","GRIA3","GRIN1","GRIP1","GRM7","GSTM3","GTF2E2","GTF2H5","GTF2I","GTF2IRD1","GTF2IRD2","GUCA1B","H19","H4C11","H4C9","HARS2","HBA1","HBA2","HCCS","HDAC8","HEATR3","HEPACAM","HERC1","HERC2","HES7","HESX1","HFE","HFM1","HGD","HGSNAT","HHAT","HID1","HIRA","HLA-DPA1","HLA-DPB1","HLA-DRB1","HMGA2","HMOX1","HNF1A","HNF1B","HNRNPH1","HNRNPR","HOXA13","HOXD13","HS6ST1","HSD17B3","HSD17B4","HSD3B2","HSPG2","HUWE1","HYLS1","HYMAI","IDH1","IDH2","IDH3A","IDH3B","IER3IP1","IFIH1","IFT140","IFT172","IFT27","IFT74","IFT80","IFT81","IFT88","IGF2","IGHG2","IGKC","IL10RB","IL17F","IL17RA","IL17RC","IL17RD","IMPDH1","IMPG1","IMPG2","INPP5E","INPP5K","INSR","INTU","IPO8","IQCN","IRF6","ISL1","ITGA8","JAK3","JMJD1C","KANSL1","KAT5","KAT6B","KATNIP","KCNA1","KCNAB2","KCNH1","KCNJ6","KCNMA1","KCNN3","KCNN4","KCNQ1","KCNQ1OT1","KCNU1","KDM1A","KDM3B","KDM5B","KDM5C","KDM6A","KEAP1","KIAA0586","KIAA0753","KIAA1549","KIF14","KIF7","KIFBP","KISS1","KISS1R","KIZ","KLF1","KLF6","KLHL10","KLHL15","KLHL40","KLHL41","KLHL7","KLLN","KMT2D","KRAS","KRT5","LAMA5","LARGE1","LARS2","LEP","LEPR","LETM1","LFNG","LHB","LHCGR","LHX1","LHX4","LIG4","LIMK1","LIPE","LMNA","LMNB2","LMOD3","LMX1B","LONP1","LRAT","LRP2","LRPPRC","LSM11","LSS","LUZP1","LZTFL1","LZTR1","MAB21L1","MAB21L2","MAD1L1","MAD2L2","MADD","MAGEL2","MAK","MAMLD1","MAP2K1","MAP3K1","MAP3K7","MAPRE2","MBD4","MBD5","MBTPS2","MC2R","MCC","MCM8","MCTP2","MDM2","MECP2","MED12","MED12L","MED25","MEG3","MEGF8","MEIOB","MERTK","MESP2","METTL23","METTL27","MID1","MIF","MINPP1","MKKS","MKRN3","MKS1","MLH1","MLH3","MLXIPL","MMP14","MMP2","MMP23B","MNX1","MOGS","MOV10L1","MPLKIP","MRAP","MRE11","MRPS22","MSH2","MSH3","MSH4","MSH5","MSH6","MSX1","MT-CYB","MTM1","MTOR","MXI1","MYC","MYH3","MYMK","MYMX","MYRF","NAA10","NAB2","NANOS1","NBN","NCF1","NDN","NDNF","NDP","NDUFA6","NDUFA8","NDUFB11","NDUFB7","NDUFS4","NEB","NECTIN1","NEK1","NEK2","NELFA","NEUROD2","NEXMIF","NF2","NHLH2","NHP2","NIN","NIPBL","NKX2-1","NNT","NOBOX","NODAL","NOP10","NOTCH2","NPAP1","NPHP1","NPM1","NR0B1","NR2E3","NR2F2","NR3C1","NR5A1","NRAS","NRL","NSD1","NSD2","NSMF","NSUN2","NTHL1","NUP107","NXN","OBSL1","OCA2","OFD1","OGT","OPCML","OPHN1","ORC1","ORC4","ORC6","OTUD5","OTX2","PAFAH1B1","PAICS","PALB2","PALLD","PANX1","PARN","PATL2","PAX3","PAX6","PBX1","PCARE","PCNT","PDE11A","PDE4D","PDE6A","PDE6B","PDE6G","PDGFRL","PDHA2","PDPN","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PHF21A","PHF6","PHF8","PHGDH","PHKA2","PHKB","PHKG2","PI4KA","PIEZO2","PIGA","PIGG","PIGN","PIGP","PIGQ","PIK3CA","PIK3R1","PITX2","PLA2G2A","PLAG1","PLAGL1","PLG","PLIN1","PMFBP1","PMM2","PMS1","PMS2","PNKP","PNLDC1","PNPLA6","POC1A","POFUT1","POGLUT1","POLA1","POLD1","POLE","POLR1B","POLR1C","POLR1D","POLR3A","POLR3H","POMGNT1","POMGNT2","POMK","POMT1","POMT2","POR","PORCN","POU1F1","PPARG","PPP1R12A","PPP2R1A","PPP2R3C","PQBP1","PRCD","PRDM13","PRDM16","PRKACA","PRKACB","PRKAR1A","PRKCZ","PRKDC","PRKN","PRLR","PROK2","PROKR2","PROM1","PROP1","PRPF3","PRPF31","PRPF4","PRPF6","PRPF8","PRPH2","PRPS1","PRRX1","PRTN3","PSENEN","PSMB8","PSMC1","PSMC3IP","PSMD12","PSPH","PTCH1","PTDSS1","PTEN","PTPN11","PTPN12","PTPN22","PTPRF","PTPRJ","PTRH2","PUF60","PWAR1","PWRN1","QRICH2","RAB18","RAB23","RAB3GAP1","RAB3GAP2","RABL3","RAC1","RAC3","RAD21","RAD50","RAD51","RAD51C","RAD51D","RAD54B","RAF1","RARB","RBBP8","RBM8A","RBMY1A1","RBP3","RDH12","RECQL4","REEP6","RELA","RERE","RET","RFC2","RFWD3","RFX7","RGR","RHO","RIPK4","RIPPLY2","RLBP1","RLIM","RNASEH2A","RNASEH2B","RNASEH2C","RNASEL","RNF113A","RNF212","RNF43","RNU12","RNU4ATAC","RNU7-1","ROBO1","ROM1","ROR2","RP1","RP1L1","RP2","RP9","RPE65","RPGR","RPGRIP1","RPGRIP1L","RPL10","RPL10L","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS6KA3","RPS7","RREB1","RSPO1","RSPO2","RTEL1","RTL1","RTTN","RXYLT1","RYR1","SAG","SALL1","SALL4","SAMD9","SAMHD1","SATB2","SC5D","SCAPER","SCLT1","SCN1B","SCN2A","SCUBE3","SDCCAG8","SDHB","SDHC","SDHD","SEC23B","SEC24C","SEMA3A","SEMA3E","SEMA4A","SEPTIN12","SERPINA1","SETBP1","SETD2","SETD5","SF3B4","SGPL1","SHH","SHOC1","SIAH1","SIK1","SIL1","SIM1","SIN3A","SIX3","SIX6","SKI","SKIC3","SLC11A1","SLC25A10","SLC25A22","SLC25A24","SLC26A9","SLC29A3","SLC31A1","SLC32A1","SLC34A2","SLC35A2","SLC37A4","SLC39A4","SLC6A14","SLC6A17","SLC7A14","SLC9A3","SLX4","SMAD3","SMAD4","SMARCA2","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SMC1A","SMC3","SMCHD1","SMG8","SMO","SMS","SNORD115-1","SNORD116-1","SNRNP200","SNRPN","SOHLH1","SOX10","SOX11","SOX2","SOX3","SOX4","SOX9","SPAG17","SPATA16","SPATA7","SPECC1L","SPEF2","SPEN","SPIDR","SPINT2","SPRED1","SPRY4","SPTBN1","SRA1","SRC","SRCAP","SRD5A2","SRY","SSR4","SSX1","STAG1","STAG3","STAR","STAT6","STK11","STOX1","STRA6","STRC","STS","STT3A","STT3B","STX1A","STXBP1","SUCLG1","SUFU","SUN5","SUZ12","SYCE1","SYCP3","SYNGAP1","TAC3","TACR3","TAF4B","TALDO1","TAPT1","TARS1","TBC1D20","TBC1D24","TBCE","TBL1XR1","TBL2","TBX1","TBX15","TBX22","TBX3","TBX4","TBX6","TCF12","TCF4","TCOF1","TCTN1","TCTN2","TCTN3","TDGF1","TDRD9","TEKT3","TERB1","TERB2","TERC","TERT","TEX11","TEX14","TEX15","TFAP2A","TGFB1","TGFBR1","TGFBR2","TGIF1","THOC2","THOC6","TINF2","TLR2","TMCO1","TMEM107","TMEM216","TMEM231","TMEM237","TMEM270","TMEM63A","TMEM67","TMEM70","TMEM94","TNFAIP3","TNXB","TOE1","TOGARAM1","TONSL","TOPORS","TP53","TP63","TRAF3IP2","TRAIP","TREX1","TRIM32","TRIM8","TRIP13","TRPM3","TRPV6","TRRAP","TSC1","TSC2","TSGA10","TSPY1","TSPYL1","TSR2","TTC21A","TTC29","TTC8","TUB","TUBB","TUBB8","TULP1","TWIST2","TWNK","TXNDC15","TXNRD2","TYMS","UBA1","UBE2A","UBE2T","UBE3B","UBE4B","UBR1","UBR7","UFD1","UNG","UPB1","USB1","USF3","USH2A","USP26","USP7","USP9X","USP9Y","VAC14","VAMP7","VANGL1","VHL","VPS35L","VPS37D","WASHC5","WDPCP","WDR11","WDR19","WDR35","WEE2","WNT10A","WNT3","WNT4","WNT5A","WNT7A","WNT7B","WNT9B","WRAP53","WRN","WT1","WWOX","XPA","XPC","XRCC2","XRCC4","YWHAE","ZEB2","ZFHX3","ZFPM2","ZFTA","ZIC2","ZMIZ1","ZMPSTE24","ZMYM2","ZMYND15","ZNF408","ZNF513","ZNF699","ZPBP","ZPR1","ZSWIM7"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_SEX_DETERMINATION":{"collection":"C5:HPO","systematicName":"M38057","pmid":"","exactSource":"HP:0012244","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012244","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SEX_DETERMINATION","geneSymbols":["AKR1C2","AKR1C4","CBX2","CILK1","CYB5A","CYP11A1","CYP17A1","DHH","DHX37","DMRT3","GATA4","MAP3K1","NR0B1","NR5A1","RSPO1","SOX9","SRY","VAMP7","WNT4","WT1","WWOX","ZFPM2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SEX_REVERSAL":{"collection":"C5:HPO","systematicName":"M38058","pmid":"","exactSource":"HP:0012245","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012245","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEX_REVERSAL","geneSymbols":["AKR1C2","AKR1C4","CBX2","CILK1","CYP11A1","DHH","MAP3K1","NR0B1","NR5A1","RSPO1","SOX9","SRY","WNT4","ZFPM2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_OCULOMOTOR_NERVE_PALSY":{"collection":"C5:HPO","systematicName":"M38059","pmid":"","exactSource":"HP:0012246","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012246","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OCULOMOTOR_NERVE_PALSY","geneSymbols":["AIP","AKT1","AKT3","ANGPTL6","BAP1","CDH23","CHN1","COL3A1","ENG","MAFB","MEN1","MTOR","MYMK","NF2","PDGFB","PIK3CA","PLEC","SALL4","SMARCB1","SMARCE1","SMO","SUFU","TERT","TGFBR3","THSD1","TRAF7","TRPV4","UGT1A1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PROLONGED_PR_INTERVAL":{"collection":"C5:HPO","systematicName":"M38060","pmid":"","exactSource":"HP:0012248","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012248","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROLONGED_PR_INTERVAL","geneSymbols":["CLCNKB","DSG2","GNB5","GPD1L","KCNA5","NKX2-5","SCN2B","SCN5A","SLC12A3","TLL1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_ST_SEGMENT":{"collection":"C5:HPO","systematicName":"M38061","pmid":"","exactSource":"HP:0012249","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012249","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ST_SEGMENT","geneSymbols":["ABCC9","ACTC1","AKAP9","CACNA1C","CACNA2D1","CACNB2","CITED2","CLCNKB","GATA4","GATA6","GPD1L","GYG1","HCN4","KCND3","KCNE3","KCNE5","KCNJ8","MYH6","NKX2-5","PKP2","POLG","PRKAG2","RAF1","RANGRF","RYR1","SCN10A","SCN1B","SCN2B","SCN3B","SCN5A","SCNN1A","SEMA3A","SLC12A3","SLMAP","TBX20","TLL1","TNNC1","TNNT2","TRPM4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ST_SEGMENT_DEPRESSION":{"collection":"C5:HPO","systematicName":"M41440","pmid":"","exactSource":"HP:0012250","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012250","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ST_SEGMENT_DEPRESSION","geneSymbols":["ACTC1","CITED2","CLCNKB","GATA4","GATA6","MYH6","NKX2-5","PRKAG2","RYR1","SLC12A3","TBX20","TLL1","TNNC1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ST_SEGMENT_ELEVATION":{"collection":"C5:HPO","systematicName":"M41441","pmid":"","exactSource":"HP:0012251","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012251","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ST_SEGMENT_ELEVATION","geneSymbols":["ABCC9","AKAP9","CACNA1C","CACNA2D1","CACNB2","GPD1L","GYG1","HCN4","KCND3","KCNE3","KCNE5","KCNJ8","PKP2","POLG","PRKAG2","RANGRF","SCN10A","SCN1B","SCN2B","SCN3B","SCN5A","SCNN1A","SEMA3A","SLMAP","TRPM4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_RESPIRATORY_SYSTEM_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M47208","pmid":"","exactSource":"HP:0012252","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012252","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RESPIRATORY_SYSTEM_MORPHOLOGY","geneSymbols":["AAGAB","AARS1","AARS2","AASS","ABCA12","ABCA3","ABL1","ACADVL","ACE","ACP5","ACTA1","ACTA2","ACTC1","ACTN4","ACVR2B","ACVRL1","ADA","ADA2","ADAMTS19","ADAMTS2","ADAMTS3","ADAMTSL2","ADARB1","ADGRG6","ADNP","AFF4","AGA","AGGF1","AGR2","AGRN","AGT","AGTR1","AHDC1","AICDA","AK2","AKT1","ALB","ALDH18A1","ALDH1A2","ALG12","ALG14","ALG3","ALG9","ALMS1","ALOX12B","ALOXE3","ALPL","ALX1","ALX3","AMER1","ANG","ANKFY1","ANLN","ANO3","ANXA11","AP3B1","AP3D1","APC","APC2","APOE","APOL1","ARHGAP24","ARHGAP31","ARHGDIA","ARHGEF1","ARID1A","ARID1B","ARID2","ARL2BP","ARMC2","ARNT2","ARPC1B","ARSB","ARSL","ARVCF","ASAH1","ASCC1","ASPRV1","ASXL1","ASXL3","ATM","ATP11A","ATP5F1A","ATP6V0A1","ATP6V0A2","ATP6V1A","ATP6V1B2","ATP6V1E1","ATRX","ATXN2","B2M","B3GALT6","B3GLCT","BACH2","BAP1","BAZ1B","BCL10","BCL11A","BCL11B","BCL2","BCL6","BCL7B","BCOR","BCR","BGN","BIRC3","BLM","BLNK","BLTP1","BMP15","BMP2","BMPER","BMPR2","BNC1","BRAF","BRCA1","BRCA2","BRF1","BRIP1","BTD","BTK","BTNL2","BUB1","BUB1B","BUB3","BUD23","C1QB","C2CD3","C3","C4A","C4B","CACNA1B","CACNA1C","CALCRL","CAPN15","CARD10","CARD11","CARMIL2","CARS1","CASP10","CASP8","CASR","CAT","CAV1","CAVIN1","CBL","CC2D2A","CCBE1","CCDC103","CCDC22","CCDC39","CCDC40","CCDC65","CCN2","CCND1","CCNF","CCNO","CCNQ","CCR1","CCR6","CD19","CD247","CD27","CD28","CD2AP","CD3D","CD3E","CD3G","CD4","CD40LG","CD46","CD55","CD79A","CD79B","CD81","CD8A","CDC42","CDC45","CDCA7","CDKN2A","CDON","CDT1","CEACAM3","CEACAM6","CENPE","CEP120","CEP55","CEP57","CFAP221","CFAP298","CFAP300","CFAP410","CFAP45","CFAP52","CFAP53","CFAP74","CFB","CFH","CFI","CFTR","CHAMP1","CHAT","CHCHD10","CHD7","CHEK2","CHMP2B","CHRM3","CHRNA1","CHRND","CHRNG","CHST14","CHUK","CIITA","CILK1","CIROP","CITED2","CLCA4","CLCN7","CLEC7A","CLIP2","CLPB","CNTN1","COG4","COG6","COL11A1","COL11A2","COL12A1","COL13A1","COL14A1","COL17A1","COL2A1","COL3A1","COL4A3","COL4A5","COL4A6","COL5A1","COL5A2","COL6A1","COL6A2","COL6A3","COL7A1","COLQ","COMT","COPA","COQ7","COQ8B","CORO1A","CPLX1","CR2","CRB2","CREBBP","CRELD1","CRKL","CRLF1","CRTAP","CSF2RA","CSF2RB","CSPP1","CTBP1","CTC1","CTCF","CTLA4","CTNNA2","CTNNB1","CTNNBL1","CTPS1","CTRC","CTSC","CTSK","CUX1","CXCR4","CYBA","CYBB","CYBC1","CYP27A1","CYP2A6","CYP4F22","DAAM2","DAO","DCHS1","DCLRE1C","DCTN1","DCTN4","DDR2","DDRGK1","DDX3X","DDX59","DEAF1","DEF6","DGCR2","DGCR6","DGCR8","DHCR24","DHCR7","DIAPH1","DICER1","DIP2B","DIS3L2","DISP1","DKC1","DLK1","DLL1","DLL3","DLL4","DNAAF1","DNAAF11","DNAAF2","DNAAF3","DNAAF4","DNAAF5","DNAAF6","DNAH1","DNAH11","DNAH5","DNAH7","DNAH9","DNAI1","DNAI2","DNAJB13","DNAJB4","DNAJC21","DNAJC30","DNAL1","DNASE1","DNASE1L3","DNMT3B","DOCK2","DOCK6","DOCK8","DOK7","DONSON","DPAGT1","DPF2","DPM2","DPP9","DPYSL5","DRC1","DSE","DSG1","DSP","DTYMK","DVL3","DYM","DYNC2H1","DYNC2I1","DYNC2I2","DYNC2LI1","DZIP1L","EBP","ECM1","EDA","EDARADD","EDN1","EDNRA","EDNRB","EFEMP2","EFL1","EGFR","EHHADH","EHMT1","EIF2AK4","EIF4A3","EIF4H","ELANE","ELF4","ELN","ELP1","EMC1","EMG1","EMILIN1","EMP2","ENG","EOGT","EP300","EPG5","EPHA4","EPHB4","EPM2A","ERAP1","ERBB2","ERBB4","ERCC2","ERCC3","ERCC4","ERCC6","ERF","ESS2","ETFA","ETFB","ETFDH","EVC","EVC2","EWSR1","EXOSC9","EXT1","EXT2","EXTL3","F12","F5","FADD","FAM111B","FAM13A","FAM20C","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FARSA","FARSB","FAS","FASLG","FAT4","FBLN5","FBN1","FBN2","FBXO28","FBXW7","FCGR2A","FCGR2B","FCGR3A","FCGR3B","FCHO1","FCN3","FCSK","FERMT1","FGF10","FGF20","FGF8","FGFR1","FGFR2","FGFR3","FIG4","FIP1L1","FKBP6","FLCN","FLI1","FLII","FLNA","FLNB","FLNC","FLT4","FMO3","FMR1","FNIP1","FOCAD","FOXC2","FOXE1","FOXE3","FOXF1","FOXH1","FOXI1","FOXJ1","FOXN1","FOXP1","FOXP2","FOXP3","FRA10AC1","FRAS1","FREM1","FREM2","FSHR","FUCA1","FUS","FUT8","FUZ","G6PC3","GAA","GABRG2","GALC","GALNS","GAPVD1","GAS1","GAS2L2","GAS8","GATA1","GATA2","GATA4","GATA6","GATM","GBA1","GCLC","GDF1","GDF2","GEMIN4","GFI1","GFM2","GFRA1","GIMAP5","GIPC1","GJA1","GLA","GLB1","GLDN","GLE1","GLI1","GLI2","GLI3","GLMN","GLT8D1","GLUL","GMNN","GNPTAB","GNS","GORAB","GP1BB","GPC3","GPC4","GPC6","GPKOW","GPR35","GREB1L","GRHL3","GRIA1","GRIN2A","GRIP1","GSN","GSTM3","GTF2E2","GTF2H5","GTF2I","GTF2IRD1","GTF2IRD2","GUF1","GUSB","H19","H3-3A","H3-3B","H4C3","H4C5","HAAO","HACD1","HBB","HBG1","HBG2","HCK","HDAC4","HELLPAR","HELLS","HERC2","HES7","HESX1","HEY2","HFE","HGSNAT","HIRA","HK1","HLA-B","HLA-DPA1","HLA-DPB1","HLA-DQA1","HLA-DQB1","HLA-DRB1","HMOX1","HNRNPA1","HNRNPR","HOXD13","HPGD","HPS1","HPS4","HPS6","HRAS","HS3ST6","HSPG2","HYDIN","HYLS1","HYOU1","ICOS","IDH1","IDS","IDUA","IER3IP1","IFIH1","IFNG","IFNGR1","IFT122","IFT140","IFT172","IFT43","IFT80","IFT81","IGBP1","IGHG2","IGHM","IGKC","IGLL1","IGSF3","IKBKB","IKBKG","IKZF1","IL10","IL10RB","IL12A","IL12A-AS1","IL12B","IL12RB1","IL17F","IL17RA","IL17RC","IL1RN","IL21","IL21R","IL23R","IL2RA","IL2RB","IL2RG","IL6","IL6R","IL6ST","IL7R","INF2","INPPL1","INTU","INVS","IPO8","IQSEC2","IRAK1","IRAK4","IRF1","IRF2BP2","IRF4","IRF5","IRF8","IRF9","ITCH","ITGA3","ITGA7","ITGA8","ITK","ITPR1","IVNS1ABP","JAG1","JAGN1","JAK3","JMJD1C","KANSL1","KAT6A","KAT6B","KATNIP","KCNJ10","KCNJ2","KCNJ6","KCNMA1","KCNN4","KDM5C","KDM6A","KEAP1","KIAA0319L","KIAA0586","KIAA0753","KIF11","KIF1A","KIF1B","KIF20A","KIF21A","KIF22","KIF7","KITLG","KLF1","KLHL40","KLHL41","KLRC4","KMT2C","KMT2D","KNSTRN","KPTN","KRAS","KRT14","KRT5","LACC1","LAMA2","LAMA3","LAMB2","LAMB3","LAMC2","LAMTOR2","LAT","LBR","LCK","LEP","LEPR","LETM1","LFNG","LGI4","LIFR","LIG1","LIG4","LIMK1","LIPN","LMBRD1","LMNA","LMNB1","LMOD3","LONP1","LOX","LPIN2","LRBA","LRIF1","LRP12","LRP4","LRPPRC","LRRC56","LRRC8A","LTBP1","LTBP3","LTBP4","LYST","LZTR1","MAD2L2","MAGEL2","MAGI2","MAGT1","MALT1","MAN2B1","MANBA","MAP2K1","MAP3K20","MAP3K7","MAP3K8","MAPK1","MARS1","MARS2","MASP2","MAT2A","MATR3","MBTPS2","MCIDAS","MCM4","MCTP2","MDFIC","MDM2","MDM4","MECP2","MED12","MED25","MEFV","MEG3","MEGF10","MEIS2","MESP2","METTL27","MFAP5","MGAT2","MGP","MID1","MIF","MIR140","MITF","MKKS","MKRN3","MKS1","MLH1","MLX","MLXIPL","MMP1","MMP21","MOGS","MPDU1","MPEG1","MPLKIP","MRAS","MRPS22","MS4A1","MSH2","MSH4","MSH6","MSN","MST1","MST1R","MT-CYB","MTHFD1","MTM1","MTO1","MUC5B","MUSK","MYBPC3","MYCN","MYD88","MYH11","MYH3","MYH6","MYH7","MYL2","MYL9","MYLK","MYMK","MYMX","MYO1E","MYO1H","MYO5A","MYO9A","MYOD1","MYPN","MYRF","MYSM1","NAA10","NAB2","NABP1","NADK2","NAE1","NAF1","NAGLU","NBN","NCF1","NCF2","NCF4","NCKAP1L","NDN","NDUFA6","NDUFAF6","NDUFB10","NDUFC2","NEB","NECTIN1","NEFH","NEK1","NEK10","NEK8","NEK9","NELFA","NEPRO","NEU1","NF1","NFASC","NFE2L2","NFIX","NFKB1","NFKB2","NFKBIA","NGLY1","NHLRC1","NHLRC2","NHP2","NIN","NIPA1","NIPA2","NIPAL4","NIPBL","NKX2-1","NKX2-5","NKX2-6","NLRC4","NLRP1","NLRP12","NME5","NME8","NOD2","NODAL","NOP10","NOS1","NOTCH1","NOTCH2","NOTCH2NLC","NOTCH3","NPAP1","NPC2","NPHP3","NPHS1","NPHS2","NPM1","NR1H4","NR5A1","NRAS","NRCAM","NSD1","NSD2","NSDHL","NSMCE3","NTRK1","NUMA1","NUP107","NUP133","NUP160","NUP205","NUP214","NUP37","NUP85","NUP88","NUP93","NXN","OAS1","OCA2","OCRL","ODAD1","ODAD2","ODAD3","ODAD4","OFD1","OPTN","ORC1","ORC4","ORC6","OSTM1","OTUD5","OTX2","P4HA2","P4HTM","PABPN1","PAFAH1B1","PAICS","PAK2","PALB2","PANK2","PARN","PAX2","PAX3","PAX6","PCGF2","PCNT","PDE11A","PDGFRA","PDGFRB","PDHA1","PEPD","PERP","PET117","PEX1","PEX13","PEX5","PFN1","PGM3","PHGDH","PHIP","PI4KA","PIEZO1","PIEZO2","PIGA","PIGG","PIGL","PIGN","PIGO","PIGT","PIK3CA","PIK3CD","PIK3CG","PIK3R1","PKD1L1","PKDCC","PKHD1","PKP1","PLA2G6","PLCE1","PLCG2","PLCH1","PLD1","PLEC","PLG","PLOD1","PLP1","PLVAP","PLXND1","PML","PMM2","PNP","POLA1","POLE","POLG","POLR1B","POLR1C","POLR1D","POLR2A","POLR3A","POLR3H","PON1","PON2","PON3","POR","PORCN","POT1","POU6F2","PPARGC1A","PPM1D","PPP1CB","PPP1R21","PPP2R1B","PRG4","PRIM1","PRKACA","PRKACB","PRKAG2","PRKAR1A","PRKCD","PRKDC","PRKG1","PRKN","PRMT7","PROKR2","PRPH","PRPS1","PRRX1","PRSS1","PRSS2","PRTN3","PSAP","PSMB4","PSMB8","PSMB9","PSMC3IP","PTCD3","PTCH1","PTEN","PTH1R","PTPN11","PTPN22","PTPRO","PUF60","PURA","PWAR1","PWRN1","PYROXD1","RAB27A","RAB3GAP2","RAC1","RAC2","RAD51","RAD51C","RAF1","RAG1","RAG2","RAI1","RALGAPA1","RANBP2","RAPSN","RARA","RARB","RASA1","RASA2","RASGRP1","RB1","RBM10","RBPJ","RCBTB1","REEP1","REL","RELA","RELB","REN","REST","RET","RFC2","RFT1","RFWD3","RFX5","RFX7","RFXANK","RFXAP","RHOH","RILPL1","RIN2","RIPK1","RIPK4","RIPPLY2","RIT1","RLIM","RMRP","RNF113A","RNF125","RNF168","RNU4ATAC","ROBO1","ROR2","RPA1","RPGR","RPL10","RPL5","RPS15A","RRAS","RRAS2","RREB1","RSPH1","RSPH3","RSPH4A","RSPH9","RSPO1","RSPO2","RSPRY1","RTEL1","RTL1","RUNX2","RYR1","SALL1","SALL4","SAMD9","SAMD9L","SASH3","SAT1","SATB1","SATB2","SBDS","SCARB2","SCARF2","SCN10A","SCN11A","SCN4A","SCN9A","SCNN1A","SCNN1B","SCNN1G","SCUBE3","SDCCAG8","SDHD","SDR9C7","SEC24C","SELENON","SEMA3E","SEMA4D","SERPINA1","SERPINF2","SERPING1","SERPINH1","SETBP1","SETD2","SF3B2","SF3B4","SFRP4","SFTPA1","SFTPA2","SFTPB","SFTPC","SGCG","SGSH","SH2D1A","SH3KBP1","SHH","SHROOM4","SIAH1","SIK1","SIM1","SIX2","SIX3","SKIC2","SKIC3","SLC11A1","SLC12A2","SLC12A6","SLC18A3","SLC1A4","SLC22A18","SLC25A1","SLC25A22","SLC25A24","SLC26A2","SLC26A4","SLC26A9","SLC29A3","SLC2A10","SLC31A1","SLC34A1","SLC34A2","SLC35A1","SLC35C1","SLC37A4","SLC39A7","SLC41A1","SLC46A1","SLC52A3","SLC5A7","SLC6A14","SLC7A7","SLC9A3","SLCO2A1","SLF2","SLX4","SMAD2","SMAD3","SMAD4","SMARCA2","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCD2","SMARCE1","SMC1A","SMCHD1","SMG8","SMN1","SMO","SMPD1","SNAI2","SNAP25","SNAP29","SNIP1","SNORD115-1","SNORD116-1","SNRPB","SNRPN","SNX10","SOCS1","SOD1","SON","SOS1","SOS2","SOX10","SOX11","SOX18","SOX2","SOX3","SOX4","SOX9","SP110","SPAG1","SPECC1L","SPEF2","SPI1","SPIDR","SPINK1","SPINK5","SPP1","SPRED1","SPRED2","SPTBN1","SPTBN4","SQSTM1","SREBF1","SRP19","SRP54","SRPX2","STAG2","STAT1","STAT3","STAT4","STAT5B","STAT6","STIL","STING1","STK11","STK36","STK4","STN1","STRA6","STX1A","STX3","STXBP2","SUCLG1","SULT2B1","SYK","SYT1","SYT2","TAF1","TAF15","TAFAZZIN","TAOK1","TAP1","TAP2","TAPBP","TAPT1","TARDBP","TARS1","TASP1","TBC1D23","TBC1D24","TBC1D8B","TBCD","TBCE","TBK1","TBL1XR1","TBL2","TBX1","TBX20","TBX3","TBX5","TBX6","TCEAL1","TCF3","TCF4","TCIRG1","TCOF1","TCTN3","TDGF1","TECPR2","TERC","TERT","TET2","TFG","TFRC","TGFB1","TGFB2","TGFB3","TGFBR1","TGFBR2","TGIF1","TGM1","THOC2","THSD4","TIMM8A","TIMMDC1","TINF2","TK2","TLL1","TLR4","TMCO1","TMEM260","TMEM270","TMEM94","TNFRSF11A","TNFRSF13B","TNFRSF13C","TNFRSF1A","TNFRSF1B","TNFRSF9","TNFSF11","TNFSF12","TNNI3","TNNT2","TOM1","TONSL","TP53","TP63","TP73","TPM2","TPM3","TPP2","TRAC","TRAF3IP1","TRAF3IP2","TRAF7","TRAIP","TREM2","TREX1","TRIM2","TRIM28","TRIM37","TRIP11","TRIP13","TRIP4","TRPC6","TRPS1","TRPV3","TRPV4","TRRAP","TSC1","TSC2","TSPYL1","TTC12","TTC21B","TTC26","TTC7A","TTR","TUBA1A","TUBG1","TXNDC15","TYK2","TYMS","TYR","UBA1","UBA2","UBAC2","UBB","UBE2A","UBE2T","UBE3B","UBQLN2","UFC1","UFD1","UGP2","UMPS","UNC119","UNC13A","UNG","UQCRH","USB1","USP18","USP26","USP9X","VAMP1","VANGL1","VAPB","VARS1","VCP","VHL","VPS13B","VPS33A","VPS35L","VPS37D","VPS51","WAC","WARS2","WAS","WASHC5","WBP11","WDR1","WDR19","WDR26","WDR35","WIPF1","WNT3","WNT4","WNT7A","WNT7B","WNT9B","WRAP53","WRN","WT1","XIAP","XPNPEP2","XRCC2","YARS1","ZAP70","ZBTB16","ZBTB24","ZBTB7A","ZCCHC8","ZEB2","ZFPM2","ZFTA","ZIC2","ZIC3","ZMPSTE24","ZMYND10","ZNF341","ZNF668","ZNF699","ZNFX1","ZNHIT3","ZNRF3","ZSWIM7"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DYNEIN_ARM_DEFECT_OF_RESPIRATORY_MOTILE_CILIA":{"collection":"C5:HPO","systematicName":"M46229","pmid":"","exactSource":"HP:0012255","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012255","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DYNEIN_ARM_DEFECT_OF_RESPIRATORY_MOTILE_CILIA","geneSymbols":["CCDC103","CCDC39","CFAP298","CFAP300","DNAAF1","DNAAF11","DNAAF3","DNAAF5","DNAH7","DNAH9","DNAI1","DNAI2","DNAL1","NME8","ODAD1","ODAD3","SPAG1","TTC12","ZMYND10"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABSENT_OUTER_DYNEIN_ARMS":{"collection":"C5:HPO","systematicName":"M46230","pmid":"","exactSource":"HP:0012256","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012256","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_OUTER_DYNEIN_ARMS","geneSymbols":["CFAP298","CFAP300","DNAAF1","DNAAF11","DNAAF3","DNAAF5","DNAH9","DNAI1","DNAI2","DNAL1","ODAD1","ODAD3","TTC12","ZMYND10"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABSENT_INNER_DYNEIN_ARMS":{"collection":"C5:HPO","systematicName":"M38064","pmid":"","exactSource":"HP:0012257","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012257","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_INNER_DYNEIN_ARMS","geneSymbols":["CCDC39","CFAP300","DNAAF1","DNAAF11","DNAAF3","DNAAF5","DNAH7","TTC12","ZMYND10"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABSENT_INNER_AND_OUTER_DYNEIN_ARMS":{"collection":"C5:HPO","systematicName":"M41442","pmid":"","exactSource":"HP:0012259","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012259","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_INNER_AND_OUTER_DYNEIN_ARMS","geneSymbols":["CFAP300","DNAAF11","DNAAF3","TTC12","ZMYND10"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_RESPIRATORY_MOTILE_CILIUM_PHYSIOLOGY":{"collection":"C5:HPO","systematicName":"M38065","pmid":"","exactSource":"HP:0012261","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012261","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RESPIRATORY_MOTILE_CILIUM_PHYSIOLOGY","geneSymbols":["CCDC103","CCDC39","CCDC40","CCDC65","CCNO","CFAP298","CFAP300","CFAP74","DNAAF1","DNAAF11","DNAAF2","DNAAF3","DNAAF4","DNAAF5","DNAH11","DNAH5","DNAH9","DNAI1","DNAI2","DNAJB13","DNAL1","DRC1","GAS8","HYDIN","NME8","ODAD1","ODAD2","ODAD3","RSPH1","RSPH3","RSPH4A","RSPH9","SPAG1","STK36","TTC12","ZMYND10"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_IMMOTILE_CILIA":{"collection":"C5:HPO","systematicName":"M41443","pmid":"","exactSource":"HP:0012263","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012263","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMMOTILE_CILIA","geneSymbols":["CFAP298","CFAP300","DNAAF1","DNAAF11","DNAAF3","DNAAF4","DNAAF5","DNAI1","RSPH1","RSPH3","RSPH4A","TTC12","ZMYND10"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_MUSCLE_GLYCOGEN_CONTENT":{"collection":"C5:HPO","systematicName":"M38067","pmid":"","exactSource":"HP:0012269","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012269","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MUSCLE_GLYCOGEN_CONTENT","geneSymbols":["ENO3","GAA","GYG1","GYS1","MSTO1","MT-TE","PFKM","PHKA1","PHKA2","PHKB","PHKG2","PYGM","TRMU"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DIGITAL_FLEXOR_TENOSYNOVITIS":{"collection":"C5:HPO","systematicName":"M43427","pmid":"","exactSource":"HP:0012276","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012276","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DIGITAL_FLEXOR_TENOSYNOVITIS","geneSymbols":["CD244","CIITA","IL10","NFKBIL1","PTPN22","SLC22A4","TTR"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CIRCULATING_SERINE_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M38068","pmid":"","exactSource":"HP:0012278","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012278","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_SERINE_CONCENTRATION","geneSymbols":["PHGDH","PSAT1","PSPH","SLC25A13","SLC7A7"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_HYPOTHALAMUS_PHYSIOLOGY":{"collection":"C5:HPO","systematicName":"M38069","pmid":"","exactSource":"HP:0012285","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012285","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_HYPOTHALAMUS_PHYSIOLOGY","geneSymbols":["AKT1","ANOS1","BAP1","CCDC141","CDON","CHD7","DCC","DISP1","DLL1","DUSP6","FEZF1","FGF17","FGF8","FGFR1","FLRT3","FOXH1","GAS1","GLI2","HESX1","HS6ST1","IL17RD","LHX3","MAGEL2","NDNF","NF2","NODAL","PDGFB","PIK3CA","PLCH1","PROK2","PROKR2","PTCH1","SEMA3A","SHH","SIM1","SIX3","SMARCB1","SMARCE1","SMC1A","SMO","SOX10","SPRY4","STAG2","STIL","SUFU","TACR3","TDGF1","TERT","TGIF1","TRAF7","TRH","WDR11","ZIC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_HYPOTHALAMUS_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M38070","pmid":"","exactSource":"HP:0012286","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012286","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_HYPOTHALAMUS_MORPHOLOGY","geneSymbols":["BRAF","CDH2","CPLANE1","CTNNB1","FAM149B1","GLI3","KIAA0753","KIF7","LEPR","MAN2C1","OFD1","PDE6D","SIX6","SMO","SOX2","SPG11","TCTN3","TIAM1","TMEM216","TOPORS","VPS16"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NEOPLASM_OF_HEAD_AND_NECK":{"collection":"C5:HPO","systematicName":"M38071","pmid":"","exactSource":"HP:0012288","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012288","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_HEAD_AND_NECK","geneSymbols":["AAGAB","APC","ASCC1","BLM","CDKN2A","CHEK2","COL14A1","COL4A5","COL4A6","CTHRC1","CTNNB1","DCC","DLEC1","FH","FOXE1","HABP2","KIT","LZTS1","MDM2","MINPP1","MSR1","MYH11","PDE11A","PDGFRA","PRKAR1A","RAD21","RHBDF2","RNF6","SDHA","SDHB","SDHC","STAT1","STK11","TGFBR2","TOM1","TP53","WWOX"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_OCCIPITAL_BONE_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M46231","pmid":"","exactSource":"HP:0012294","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012294","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_OCCIPITAL_BONE_MORPHOLOGY","geneSymbols":["ADSL","ALX4","AMER1","ASPM","ATP6V1B2","ATP7A","CCDC22","CDK13","CDKN1C","CHUK","CNOT1","CNOT3","CTSK","CYP27B1","CYP2R1","DLL3","DPM1","DPYSL5","EHMT1","ERF","EZH2","FGFR2","FIG4","FLNA","FLNB","GDF11","GJA5","GJA8","GLI3","HES7","HK1","HRAS","HYMAI","IFT122","IFT43","IFT52","IFT81","IGF2","IL11RA","INPPL1","ITCH","KAT6B","KATNB1","KCNQ1","KCNQ1OT1","KIF11","KIF7","KRAS","LFNG","MAN1B1","MAN2B1","MCTP2","MED12","MESP2","METTL23","MOGS","MYCN","NDE1","NFIX","NOTCH2","NRAS","OCA2","OCRL","OTUD6B","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PIGA","PIGN","PLAGL1","PPP1R21","PTCH1","RALGAPA1","RELN","RIPPLY2","RNU4ATAC","RPS23","RTTN","SATB2","SETD1B","SH3PXD2B","SLC25A12","SLC34A3","SLC35A1","SMG9","SNRPN","SOX6","SYNE1","TAF1","TBC1D24","TBX6","TFAP2B","TMEM70","TOR1A","TUBB3","TWIST1","UBE3A","UBE3B","UFC1","VAC14","VDR","VPS35L","WASHC5","WDR19","WDR35","WDR73","ZIC1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_TYPE_II_TRANSFERRIN_ISOFORM_PROFILE":{"collection":"C5:HPO","systematicName":"M38073","pmid":"","exactSource":"HP:0012301","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012301","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TYPE_II_TRANSFERRIN_ISOFORM_PROFILE","geneSymbols":["ATP6AP1","ATP6AP2","B4GALT1","CAMLG","COG1","COG4","COG5","COG6","COG7","COG8","GET4","MAN1B1","MGAT2","SLC37A4","SLC39A8"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HERPES_SIMPLEX_ENCEPHALITIS":{"collection":"C5:HPO","systematicName":"M38074","pmid":"","exactSource":"HP:0012302","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012302","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HERPES_SIMPLEX_ENCEPHALITIS","geneSymbols":["HYOU1","IRF3","NCKAP1L","SNORA31","STAT1","TBK1","TICAM1","TLR3","TRAF3","UNC93B1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_AORTIC_ARCH_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M38075","pmid":"","exactSource":"HP:0012303","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012303","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_AORTIC_ARCH_MORPHOLOGY","geneSymbols":["ACVR2B","ALG3","ARVCF","BCOR","CFAP53","CHD7","CIROP","COMT","CREBBP","CRELD1","DGCR2","DGCR6","DGCR8","DIS3L2","DLK1","DNAH1","DNAH9","EP300","ESS2","FGFR1","FLT4","FOXF1","GATA6","GBA1","GDF1","GJA1","GLI3","GNB2","GP1BB","HIRA","IPO8","JMJD1C","KRAS","MAP3K7","MCTP2","MEG3","MMP21","MYCN","MYRF","NKX2-5","NKX2-6","PIGN","PIK3R2","PKD1L1","PLD1","PLXND1","PPP1CB","PPP2R1A","PTH1R","PUF60","RREB1","RTL1","SEC24C","SEMA3E","SF3B2","SMG9","STRA6","SUCLG1","TBX1","TELO2","TMEM260","TTC26","UFD1","WDR26","WT1","ZIC3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPOPLASTIC_AORTIC_ARCH":{"collection":"C5:HPO","systematicName":"M41444","pmid":"","exactSource":"HP:0012304","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012304","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASTIC_AORTIC_ARCH","geneSymbols":["BCOR","CIROP","CREBBP","EP300","FOXF1","GJA1","GNB2","MAP3K7","NKX2-5","PPP1CB","PPP2R1A","PUF60","ZIC3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_RIB_OSSIFICATION":{"collection":"C5:HPO","systematicName":"M38076","pmid":"","exactSource":"HP:0012306","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012306","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RIB_OSSIFICATION","geneSymbols":["BMPER","COL10A1","DNAJC21","EBP","LBR","MGP","SBDS","SLC26A2","SRP54"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CUTANEOUS_AMYLOIDOSIS":{"collection":"C5:HPO","systematicName":"M43428","pmid":"","exactSource":"HP:0012309","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012309","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CUTANEOUS_AMYLOIDOSIS","geneSymbols":["B2M","IL31RA","NLRP1","POLA1","RET"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_MONOCYTE_COUNT":{"collection":"C5:HPO","systematicName":"M47209","pmid":"","exactSource":"HP:0012310","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012310","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MONOCYTE_COUNT","geneSymbols":["CARD11","CLPB","DDX41","ELANE","G6PC3","GATA2","GFI1","IKBKB","IRF8","KRAS","NRAS","PIK3CD","PIK3CG","RAC2","SRP19","SRP54","TCIRG1","WAS","ZNFX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MONOCYTOSIS":{"collection":"C5:HPO","systematicName":"M38077","pmid":"","exactSource":"HP:0012311","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012311","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MONOCYTOSIS","geneSymbols":["CLPB","DDX41","ELANE","G6PC3","GFI1","IKBKB","KRAS","NRAS","PIK3CD","SRP19","SRP54","TCIRG1","ZNFX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MONOCYTOPENIA":{"collection":"C5:HPO","systematicName":"M46232","pmid":"","exactSource":"HP:0012312","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012312","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MONOCYTOPENIA","geneSymbols":["CARD11","GATA2","IRF8","PIK3CG","RAC2","WAS"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FIBROUS_TISSUE_NEOPLASM":{"collection":"C5:HPO","systematicName":"M38078","pmid":"","exactSource":"HP:0012316","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012316","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FIBROUS_TISSUE_NEOPLASM","geneSymbols":["ABCA5","AKT1","ANTXR2","APC","ATP6V1B2","BAP1","BMPR1A","CASP10","CDC73","CDKN1A","CDKN1B","CDKN2B","CDKN2C","COL4A5","COL4A6","CREB1","CTNNB1","DHCR24","ELMO2","FAM20A","FAM20C","FAS","FASLG","FLNA","GREM1","HRAS","IFNG","IL6ST","KCNH1","KCNMA1","KCNN3","KIT","KLLN","KRAS","KRT17","LRP1","MEN1","MLH1","MSH2","MSH6","MTAP","MUTYH","NF1","NF2","NOTCH3","NRAS","PDE11A","PDGFB","PDGFRB","PIK3CA","PLCD1","PRKAR1A","PRKCD","PRLR","PTCH1","PTEN","RASGRP1","REST","RSPRY1","SDHB","SDHC","SDHD","SEC23B","SMARCB1","SMARCE1","SMO","SOS1","SPRED1","SPTBN1","SUFU","TERT","TRAF7","TSC1","TSC2","USF3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MYELOID_LEUKEMIA":{"collection":"C5:HPO","systematicName":"M38079","pmid":"","exactSource":"HP:0012324","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012324","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MYELOID_LEUKEMIA","geneSymbols":["ARHGAP26","ASXL1","BRAF","CBL","DNMT3A","F13A1","F13B","GATA2","IDH1","KIT","KRAS","MAP2K1","NF1","NRAS","PTPN11","SAMD9L","SETBP1","SRSF2","TERC","TERT","TET2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PYELONEPHRITIS":{"collection":"C5:HPO","systematicName":"M38080","pmid":"","exactSource":"HP:0012330","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012330","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PYELONEPHRITIS","geneSymbols":["ALDH18A1","ALG5","ALG9","BICC1","BNC2","CFI","DNAJB11","EFEMP2","ELN","FBLN5","GANAB","HOXA13","IFT140","KCTD1","LTBP1","MED12","MYH11","PKD1","PKD2","SHANK3","XDH"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_AUTONOMIC_NERVOUS_SYSTEM_PHYSIOLOGY":{"collection":"C5:HPO","systematicName":"M38081","pmid":"","exactSource":"HP:0012332","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012332","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_AUTONOMIC_NERVOUS_SYSTEM_PHYSIOLOGY","geneSymbols":["AAAS","ACOX1","ADH1C","AKAP9","ANK2","ARSA","ASCL1","ATP1A2","ATP1A3","ATP7A","ATXN2","ATXN3","ATXN8OS","B2M","BRAT1","CACNA1A","CACNA1C","CALM1","CALM2","CALM3","CAV1","CAV3","CCT5","CHCHD2","CHRNA3","CISD2","COL1A1","COL25A1","COL5A1","COL5A2","COQ2","CYB561","CYP11B2","DBH","DEPDC5","DNAJC13","DNAJC6","ECE1","EIF4G1","ELP1","ERBB3","FBXO7","FMR1","GABBR2","GBA1","GBE1","GFAP","GIGYF2","GLA","GLUD2","GMPPA","GNB2","GSN","HEXB","HTRA2","IL12A","IL12RB1","IL6ST","IRF5","KCNE1","KCNE2","KCNH2","KCNJ5","KCNQ1","KIF1B","LEP","LEPR","LGI1","LIFR","LMNB1","LRRK2","MAPT","MECP2","MMEL1","MT-TT","NOS1AP","NR4A2","NTRK1","PARK7","PHOX2B","PINK1","PLA2G6","PODXL","POLR3A","POU2AF1","PPOX","PRKN","PRNP","PSAP","RELN","RET","RFC1","SCN10A","SCN11A","SCN3A","SCN4B","SCN5A","SCN9A","SIM1","SLC18A2","SLC1A3","SLC6A2","SNCA","SNCAIP","SNTA1","SOX10","SPG11","SPIB","SYNE1","SYNJ1","TBP","TBX5","TNFSF15","TNPO3","TRDN","TSPYL1","TTR","TUBB3","TXN2","UCHL1","VPS11","VPS13A","VPS13C","VPS35","WDR45","WFS1","ZFHX4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_EXTRAHEPATIC_CHOLESTASIS":{"collection":"C5:HPO","systematicName":"M38082","pmid":"","exactSource":"HP:0012334","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012334","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EXTRAHEPATIC_CHOLESTASIS","geneSymbols":["BRCA1","BRCA2","CDKN1B","CDKN2A","KRAS","PALB2","PALLD","RABL3","SMAD4","TP53"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_FOLATE_METABOLISM":{"collection":"C5:HPO","systematicName":"M43429","pmid":"","exactSource":"HP:0012335","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012335","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_FOLATE_METABOLISM","geneSymbols":["AMN","CUBN","DHFR","FTCD","HLA-DQA1","HLA-DQB1","OTUD5","PNPLA8","SLC46A1","SPTBN1","TCN2","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_HOMEOSTASIS":{"collection":"C5:HPO","systematicName":"M47210","pmid":"","exactSource":"HP:0012337","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012337","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_HOMEOSTASIS","geneSymbols":["AARS2","ABCA12","ABCA3","ABCA4","ABCB4","ABCC2","ABCC6","ABCC8","ABCC9","ABCD4","ABL1","ACAD8","ACAD9","ACADM","ACADS","ACADSB","ACADVL","ACAT1","ACAT2","ACP5","ACSF3","ACSL5","ACTA1","ACTB","ACTC1","ACTG1","ACTN4","ADA","ADA2","ADAMTS13","ADAMTS2","ADAMTS3","ADAR","ADARB1","ADCY3","ADRB3","AEBP1","AFF4","AGBL1","AGBL5","AGGF1","AGK","AGL","AGPAT2","AGR2","AGRP","AGXT","AHCY","AHI1","AHR","AIFM1","AIP","AIRE","AK2","AKT1","AKT2","ALAS2","ALB","ALDH6A1","ALDH7A1","ALDOA","ALDOB","ALG1","ALG11","ALG12","ALG14","ALG3","ALG8","ALG9","ALMS1","ALOX12B","ALOXE3","ALPK1","ALPK3","ALPL","AMACR","AMPD1","AMPD2","AMPD3","ANAPC1","ANGPT1","ANGPT2","ANK1","ANKFY1","ANKH","ANKRD55","ANLN","ANTXR1","ANTXR2","AP1S3","APC2","APOA1","APOA5","APOE","APOL1","APPL1","APRT","AQP2","AR","ARHGAP24","ARHGDIA","ARHGEF18","ARL2BP","ARL3","ARL6","ARMC5","ARNT2","ARSL","ASAH1","ASL","ASPRV1","ASS1","ASXL1","ASXL2","ATAD3A","ATIC","ATM","ATN1","ATP13A2","ATP1A2","ATP1A3","ATP2A1","ATP5F1A","ATP5F1B","ATP5F1D","ATP5F1E","ATP5MK","ATP6V0A4","ATP6V1B1","ATP7A","ATP7B","ATPAF1","ATPAF2","ATRX","ATXN3","AUH","AVP","AVPR2","B2M","B4GALT1","BACH2","BAP1","BAZ1B","BBS1","BBS2","BBS9","BCAP31","BCKDHA","BCKDHB","BCL10","BCL2","BCL6","BCL7B","BCOR","BCR","BCS1L","BEST1","BIN1","BIRC3","BLK","BLM","BLNK","BLTP1","BMP2","BMP6","BMPER","BMPR1A","BOLA3","BRAF","BRAT1","BRCA1","BRCA2","BRD4","BSCL2","BSND","BTD","BTK","BTNL2","BUB1","BUB1B","BUB3","BUD23","C1QB","C1QBP","C2orf69","C3","C4A","CA12","CA2","CA4","CA5A","CACNA1A","CACNA1C","CACNA1D","CACNA1S","CAD","CALCRL","CALR","CAMKMT","CAMTA1","CARS1","CARS2","CARTPT","CASK","CASP10","CASR","CAT","CAV1","CAVIN1","CBL","CC2D2A","CCBE1","CCDC28B","CCDC88A","CCN6","CCND1","CCR1","CD244","CD247","CD27","CD28","CD2AP","CD320","CD3D","CD3E","CD46","CD55","CD70","CD79A","CD79B","CDAN1","CDC42","CDH11","CDH23","CDHR1","CDK5","CDKN1A","CDKN1B","CDKN1C","CDKN2A","CDKN2B","CDKN2C","CDON","CEACAM3","CEACAM6","CEBPE","CEL","CELA2A","CELSR1","CEP19","CEP57","CERKL","CFAP418","CFH","CFHR1","CFHR3","CFI","CFTR","CHCHD10","CHD7","CHEK2","CHRNA1","CHRND","CHRNG","CIC","CIDEC","CIITA","CISD2","CITED2","CLCA4","CLCF1","CLCN2","CLCN6","CLCN7","CLCNKA","CLCNKB","CLDN10","CLDN16","CLEC7A","CLIP2","CLMP","CLPB","CLRN1","CNBP","CNGA1","CNGB1","CNOT1","COA6","COA8","COG6","COG7","COG8","COL11A1","COL1A1","COL1A2","COL2A1","COL4A3","COL5A1","COL5A2","COL8A2","COQ2","COQ4","COQ8A","COQ8B","COQ9","CORIN","COX10","COX11","COX14","COX15","COX16","COX20","COX4I1","COX5A","COX6A2","COX6B1","COX8A","CP","CPA1","CPE","CPN1","CPOX","CPS1","CPSF3","CPT1A","CPT2","CR2","CRAT","CRB1","CRB2","CRLF1","CRLS1","CRX","CSGALNACT1","CTC1","CTDP1","CTLA4","CTNNB1","CTNS","CTRC","CTSA","CUL3","CYB561","CYBA","CYBB","CYBC1","CYC1","CYP11A1","CYP11B2","CYP17A1","CYP19A1","CYP21A2","CYP24A1","CYP27A1","CYP4F22","CYP4V2","DAAM2","DARS2","DBH","DBT","DCAF17","DCHS1","DCLRE1C","DCTN4","DDB2","DDC","DDR2","DEF6","DGUOK","DHCR7","DHDDS","DHPS","DHX30","DHX38","DIS3L2","DISP1","DKC1","DLAT","DLD","DLK1","DLL1","DMXL2","DNAJC19","DNAJC21","DNAJC3","DNAJC30","DNASE1L3","DNASE2","DNM1L","DNM2","DNMT1","DNMT3B","DOCK2","DOHH","DOK7","DOLK","DPAGT1","DPP9","DPYS","DSP","DST","DTYMK","DUOX2","DUOXA2","DUT","DUX4","DUX4L1","DYNC2H1","DYNC2I1","DYNC2I2","DYRK1B","DYSF","EARS2","EBP","ECHS1","EDA","EDA2R","EDAR","EDARADD","EDNRA","EFL1","EGFR","EHHADH","EIF2AK3","EIF2AK4","EIF2B1","EIF2S3","EIF4H","ELAC2","ELANE","ELF4","ELMO2","ELN","ELP1","EMP2","ENG","ENPP1","EPB41","EPB42","EPCAM","EPG5","EPHB4","ERAP1","ERBB3","ERCC2","ERCC3","ERCC4","ERCC5","ERCC6","ERCC8","ESR1","ETFA","ETFB","ETFDH","ETHE1","EYS","F12","F5","F8","FAH","FAM161A","FARS2","FARSB","FAS","FASLG","FASTKD2","FAT4","FBN1","FBP1","FBXL4","FCGR2A","FCGR3B","FDX2","FECH","FGA","FGB","FGF20","FGF8","FGFR1","FGFR3","FGG","FH","FIBP","FIG4","FIP1L1","FKBP6","FLNB","FLNC","FLT1","FLT4","FMR1","FN1","FOCAD","FOS","FOXA2","FOXC2","FOXF1","FOXG1","FOXH1","FOXP1","FOXP3","FOXRED1","FRG1","FRMD4A","FSCN2","FSHR","FUCA1","FUT8","FUZ","FXN","FZD4","G6PC1","G6PD","GAA","GABRA2","GABRA3","GALC","GALK1","GALT","GAPVD1","GAS1","GATA1","GATA2","GATA3","GATA4","GATA6","GATB","GATC","GATM","GBA1","GBE1","GCDH","GCGR","GCH1","GCK","GCLC","GFER","GFI1","GFM1","GFM2","GFRA1","GH1","GHR","GHRL","GHSR","GJA1","GJB3","GJB4","GJC2","GK","GLA","GLB1","GLE1","GLI2","GLI3","GLIS3","GLRX5","GLUD1","GLYCTK","GNAQ","GNAS","GNB2","GNPTAB","GOSR2","GOT2","GPC3","GPC4","GPC6","GPD2","GPR101","GPR161","GPR35","GRB10","GREB1L","GRHL2","GRIP1","GSN","GSS","GSTM3","GTF2I","GTF2IRD1","GTF2IRD2","GTPBP3","GUCA1B","GUCY2C","GUSB","GYG1","GYPC","GYS2","H19","H4C5","HADH","HADHA","HADHB","HAMP","HAVCR2","HBA1","HBA2","HBB","HCFC1","HDAC8","HEATR3","HELLPAR","HEPHL1","HERC1","HERC2","HESX1","HFE","HGD","HGSNAT","HIBCH","HJV","HLA-A","HLA-B","HLA-DPA1","HLA-DPB1","HLA-DQA1","HLA-DQB1","HLA-DRB1","HLCS","HMBS","HMGA1","HMGA2","HMGCL","HMGCS2","HMOX1","HNF1A","HNF1B","HNF4A","HNRNPK","HPD","HPDL","HPGD","HRAS","HS3ST6","HS6ST2","HSD11B1","HSD11B2","HSD17B10","HSD3B2","HSPD1","HSPG2","HTR1A","HTRA2","HYMAI","HYOU1","IARS1","IARS2","IBA57","IDH2","IDH3A","IDH3B","IER3IP1","IFIH1","IFNG","IFNGR1","IFT140","IFT172","IFT80","IFT88","IGF1","IGF1R","IGF2","IGF2BP2","IGFALS","IGHG2","IGHM","IGKC","IGLL1","IGSF3","IKBKG","IKZF1","IL10","IL12A","IL12A-AS1","IL12B","IL17F","IL17RA","IL17RC","IL18BP","IL1R1","IL1RN","IL23R","IL2RA","IL2RB","IL2RG","IL36RN","IL6","IL6R","IL6ST","IL7R","IMPDH1","IMPG1","IMPG2","INF2","INPPL1","INS","INSR","INVS","IRAK1","IRF2BP2","IRF4","IRF8","IRS1","IRS2","ISCA1","ISCU","ITCH","ITGA3","ITGA8","ITK","ITPR2","ITPR3","IVD","IYD","JAG1","JAK2","KARS1","KAT6A","KCNE3","KCNJ1","KCNJ10","KCNJ11","KCNJ16","KCNJ18","KCNJ5","KCNN4","KCNQ1","KCNQ1OT1","KCNQ2","KCTD1","KDF1","KDM6A","KDSR","KHK","KIAA0586","KIAA1549","KIF11","KIF1A","KIF1B","KIF20A","KIF7","KIT","KIZ","KLF1","KLF11","KLHL3","KLHL40","KLHL41","KLHL7","KLRC4","KNG1","KNSTRN","KPTN","KRAS","KRT13","KRT14","KRT18","KRT2","KRT5","KYNU","L2HGDH","LACC1","LAMA2","LAMA3","LAMB2","LAMB3","LAMC2","LARS1","LARS2","LBR","LBX1","LCK","LCT","LDHA","LEMD2","LEMD3","LEP","LEPR","LETM1","LHX1","LHX3","LHX4","LIAS","LIFR","LIG3","LIG4","LIMK1","LIPA","LIPC","LIPE","LIPN","LIPT1","LIPT2","LMBRD1","LMF1","LMNA","LMNB1","LMNB2","LMOD3","LONP1","LPIN1","LPIN2","LRAT","LRBA","LRP5","LRP6","LRPPRC","LRRC8A","LSM11","LTBP4","LYRM4","LYRM7","LYST","LYZ","LZTR1","MADD","MAFA","MAGEL2","MAGI2","MAK","MALT1","MAP2K1","MAP2K2","MAPK1","MAPK8IP1","MAPRE2","MARS1","MBTPS2","MC2R","MC4R","MCCC1","MCCC2","MCEE","MCM10","MDFIC","MDH2","MECOM","MECP2","MED12L","MEF2A","MEFV","MEG3","MEN1","MERTK","METTL27","MFN2","MFRP","MGAT2","MIA3","MICOS13","MICU1","MIF","MIPEP","MKKS","MKRN3","MLX","MLXIPL","MLYCD","MMAA","MMAB","MMACHC","MMADHC","MMP14","MMP2","MMUT","MOG","MOGS","MPC1","MPI","MPL","MPV17","MRAP","MRAS","MRM2","MRPL12","MRPL3","MRPL44","MRPS14","MRPS16","MRPS2","MRPS22","MRPS28","MRPS34","MRPS7","MSL3","MST1","MT-ATP6","MT-ATP8","MT-CO1","MT-CO2","MT-CO3","MT-CYB","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND5","MT-ND6","MT-TC","MT-TE","MT-TF","MT-TH","MT-TI","MT-TK","MT-TL1","MT-TL2","MT-TN","MT-TP","MT-TQ","MT-TS1","MT-TS2","MT-TT","MT-TV","MT-TW","MTFMT","MTHFR","MTHFS","MTMR14","MTNR1B","MTO1","MTOR","MTR","MTRFR","MTRR","MTX2","MUSK","MVK","MYBPC3","MYD88","MYF6","MYH3","MYH6","MYL11","MYLK","MYO1E","MYO1H","MYO5B","MYOF","MYPN","NAA10","NAB2","NABP1","NADK2","NAF1","NAGA","NALCN","NARS2","NAXD","NAXE","NBAS","NCF1","NCF2","NCF4","NDN","NDP","NDUFA1","NDUFA10","NDUFA11","NDUFA12","NDUFA13","NDUFA2","NDUFA4","NDUFA6","NDUFA8","NDUFA9","NDUFAF1","NDUFAF2","NDUFAF3","NDUFAF4","NDUFAF5","NDUFAF6","NDUFAF8","NDUFB10","NDUFB11","NDUFB3","NDUFB7","NDUFB8","NDUFB9","NDUFC2","NDUFS1","NDUFS2","NDUFS3","NDUFS4","NDUFS6","NDUFS7","NDUFS8","NDUFV1","NDUFV2","NEB","NECTIN4","NEK1","NEK10","NEK2","NEK9","NEU1","NEUROD1","NEUROG3","NFKB2","NFKBIA","NFKBIL1","NFS1","NFU1","NGF","NGLY1","NHP2","NIPAL4","NIPBL","NKX2-1","NKX2-5","NKX2-6","NLRC4","NLRP1","NLRP12","NLRP3","NNT","NOD2","NODAL","NOP10","NOS1AP","NOS3","NOTCH2","NOTCH3","NPAP1","NPHS1","NPHS2","NPM1","NR0B1","NR0B2","NR1H4","NR2E3","NR3C1","NR3C2","NRAS","NRL","NSD1","NSF","NSMCE2","NSUN3","NTRK1","NUAK2","NUBPL","NUMA1","NUP107","NUP133","NUP160","NUP205","NUP37","NUP85","NUP93","OBSCN","OCA2","OCRL","ODC1","OFD1","OGDH","OPA1","ORAI1","OSGEP","OTC","OTULIN","OTX2","OVOL2","OXCT1","P4HA2","P4HTM","PAH","PAK1","PALB2","PALLD","PAPPA2","PARN","PAX2","PAX4","PAX6","PAX8","PBX1","PC","PCARE","PCBD1","PCCA","PCCB","PCK1","PCK2","PCNT","PCSK1","PDE4D","PDE6A","PDE6B","PDE6G","PDGFRB","PDHA1","PDHB","PDHX","PDP1","PDSS1","PDSS2","PDX1","PERCC1","PET100","PET117","PEX1","PEX10","PEX2","PEX5","PEX6","PGM1","PHGDH","PHKA1","PHKA2","PHKB","PHKG2","PHOX2B","PI4KA","PIEZO1","PIGA","PIGN","PIK3CA","PIK3CD","PIK3CG","PIK3R1","PITRM1","PKHD1","PKLR","PLA2G6","PLAA","PLAG1","PLAGL1","PLCD1","PLCE1","PLCG2","PLCH1","PLD1","PLG","PLIN1","PLPBP","PLVAP","PLXND1","PML","PMM2","PMP22","PMPCA","PMPCB","PNLIP","PNPLA2","PNPLA6","PNPLA8","PNPO","PNPT1","POC1A","POFUT1","POGLUT1","POGZ","POLA1","POLD1","POLG","POLG2","POLR3A","POLRMT","POMC","POMGNT1","POMP","POR","POU1F1","POU4F1","POU6F2","PPA2","PPARG","PPCS","PPM1B","PPP1R15B","PPP1R3A","PPP2R5D","PPP3CA","PRCD","PRDX1","PREPL","PRF1","PRKACA","PRKAG2","PRKAR1A","PRKCD","PRNP","PROK2","PROKR2","PROM1","PROP1","PRORP","PRPF3","PRPF31","PRPF4","PRPF6","PRPF8","PRPH2","PRRT2","PRSS1","PRSS12","PRSS2","PRTN3","PSAP","PSAT1","PSENEN","PSMB10","PSMB4","PSMB8","PSMB9","PSMG2","PSPH","PSTPIP1","PTCH1","PTEN","PTF1A","PTH1R","PTPN1","PTPN11","PTPN14","PTPN2","PTPN22","PTPN3","PTPRC","PTPRO","PTRH2","PTS","PUS1","PWAR1","PWRN1","PYGL","QDPR","QRSL1","RAB27A","RABL3","RAC1","RAD21","RAF1","RAG1","RAG2","RANBP2","RARA","RARS1","RARS2","RASA1","RASA2","RASGRP1","RB1","RBCK1","RBM8A","RBP3","RDH12","RDH5","RECQL4","REEP6","REL","RELN","REST","RET","RETN","RFC2","RFX6","RGR","RHD","RHO","RIMS2","RIN2","RIPK1","RIT1","RLBP1","RMND1","RMRP","RNASEH1","RNASEH2A","RNASEH2B","RNASEH2C","RNF125","RNF13","RNF168","RNU4ATAC","RNU7-1","ROBO1","ROM1","RP1","RP1L1","RP2","RP9","RPE65","RPGR","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS7","RRAGD","RRAS","RRAS2","RRM2B","RTEL1","RTL1","RUNX1","RYR1","SAG","SAMD9","SAMHD1","SARS2","SAT1","SBDS","SCAPER","SCARB2","SCN10A","SCN11A","SCN1A","SCN4A","SCN5A","SCN9A","SCNN1A","SCNN1B","SCNN1G","SCO1","SCO2","SCYL1","SDC3","SDHA","SDHB","SDHD","SDR9C7","SECISBP2","SEMA4A","SEMA4D","SERAC1","SERPINA1","SERPING1","SETD2","SFTPB","SFTPC","SFXN4","SGPL1","SH2B1","SH2B3","SH2D1A","SH3KBP1","SHANK3","SHH","SHOX","SHPK","SHQ1","SIM1","SIN3A","SIX3","SLC11A1","SLC12A1","SLC12A3","SLC16A1","SLC17A5","SLC18A2","SLC19A2","SLC19A3","SLC1A1","SLC1A3","SLC22A4","SLC22A5","SLC25A10","SLC25A12","SLC25A13","SLC25A15","SLC25A19","SLC25A20","SLC25A26","SLC25A3","SLC25A36","SLC25A4","SLC25A42","SLC26A2","SLC26A3","SLC26A9","SLC29A3","SLC2A2","SLC30A8","SLC31A1","SLC34A1","SLC34A2","SLC35C1","SLC35D1","SLC37A4","SLC39A7","SLC3A1","SLC40A1","SLC41A1","SLC4A1","SLC4A11","SLC4A4","SLC52A1","SLC5A1","SLC5A2","SLC5A5","SLC6A14","SLC7A14","SLC7A7","SLC9A3","SLCO2A1","SMAD4","SMARCAL1","SMC1A","SMC3","SMC5","SMCHD1","SMPD4","SMS","SNIP1","SNORD115-1","SNORD116-1","SNRNP200","SNRPN","SNX10","SNX14","SOD1","SOS1","SOS2","SOX18","SOX2","SOX3","SPATA7","SPG11","SPI1","SPINK1","SPINK5","SPP1","SPR","SPRED2","SPTA1","SPTB","SPTBN1","SQOR","SRCAP","SRP19","SRP54","SRSF2","STAC3","STAG1","STAG2","STAR","STAT1","STAT2","STAT3","STAT4","STAT5B","STAT6","STIL","STIM1","STING1","STK4","STOX1","STUB1","STX11","STX1A","STX3","STXBP2","SUCLA2","SUCLG1","SUFU","SUGCT","SULT2B1","SUMF1","SUOX","SURF1","SYK","SYNJ1","TAFAZZIN","TALDO1","TANGO2","TAOK1","TAPT1","TARS2","TBC1D8B","TBCK","TBK1","TBL1XR1","TBL2","TBX19","TBX20","TBX3","TCF3","TCF4","TCF7L2","TCIRG1","TDGF1","TEK","TERC","TERT","TET2","TFAM","TFE3","TFG","TG","TGFB1","TGFBI","TGIF1","TGM1","TH","THRB","THSD1","TICAM1","TIE1","TIMM22","TIMM50","TIMMDC1","TINF2","TK2","TKFC","TKT","TLL1","TLR3","TLR4","TLR7","TLR8","TMEM126B","TMEM165","TMEM260","TMEM270","TMEM70","TMPRSS15","TNFAIP3","TNFRSF11B","TNFRSF1A","TNFRSF1B","TNFSF11","TNNI3","TNNT2","TOM1","TOPORS","TP53","TPK1","TPO","TPRKB","TRAF3","TRAF3IP2","TRAF6","TRANK1","TRAPPC2","TRAPPC9","TREX1","TRIM28","TRIM37","TRIP11","TRIP13","TRMT10A","TRMT10C","TRMT5","TRMU","TRNT1","TRPC6","TRPM3","TSC1","TSC2","TSFM","TSHB","TSHR","TSPAN12","TSPOAP1","TSPYL1","TSR2","TTC26","TTC7A","TTC8","TTPA","TTR","TUB","TUBB","TUFM","TULP1","TWNK","TXN2","TXNDC15","TXNRD2","TYMP","TYMS","UBA1","UBAC2","UBE3A","UBR1","UCP2","UCP3","UNC13D","UNC45A","UNC93B1","UPB1","UQCC2","UQCC3","UQCRB","UQCRC2","UQCRFS1","UQCRH","UQCRQ","UROD","UROS","USB1","USH2A","USP18","USP48","USP8","VAC14","VANGL1","VANGL2","VARS2","VEGFC","VHL","VIPAS39","VPS11","VPS33B","VPS37D","VPS51","VSX1","WARS2","WAS","WDR1","WDR11","WDR35","WFS1","WIPF1","WNK1","WNK4","WNT7A","WNT9B","WRAP53","WRN","WT1","XIAP","XPA","XPC","XPNPEP2","XRCC4","XYLT2","YARS1","YARS2","YIPF5","YME1L1","YY1","ZBTB16","ZBTB20","ZEB1","ZFHX2","ZFP57","ZFYVE19","ZFYVE26","ZIC2","ZMPSTE24","ZNF408","ZNF513","ZNF668","ZNF699","ZNFX1","ZNHIT3","ZNRF3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_ENERGY_EXPENDITURE":{"collection":"C5:HPO","systematicName":"M47211","pmid":"","exactSource":"HP:0012338","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012338","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ENERGY_EXPENDITURE","geneSymbols":["ADRB3","AGRP","CARTPT","ENPP1","GHRL","NGLY1","NR0B2","POMC","PPARG","SDC3","SIM1","UCP3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_GLYCOSYLATION":{"collection":"C5:HPO","systematicName":"M38085","pmid":"","exactSource":"HP:0012345","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012345","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_GLYCOSYLATION","geneSymbols":["ALG1","ALG11","ALG12","ALG13","ALG2","ALG3","ALG6","ALG8","ATP6AP1","ATP6AP2","ATP6V0A2","ATP6V1A","ATP6V1E1","B4GALT1","CAD","CAMLG","CCDC115","COG1","COG2","COG4","COG5","COG6","COG7","COG8","DDOST","DOLK","DPAGT1","DPM1","DPM2","DPM3","EDEM3","GALNT2","GET4","GORAB","MAGT1","MAN1B1","MGAT2","MPDU1","MPI","PGM1","PGM2L1","PMM2","RFT1","SLC35A2","SLC37A4","SLC39A8","SRD5A3","SSR4","STT3A","STT3B","TMEM199"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_PROTEIN_GLYCOSYLATION":{"collection":"C5:HPO","systematicName":"M38086","pmid":"","exactSource":"HP:0012346","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012346","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PROTEIN_GLYCOSYLATION","geneSymbols":["ALG1","ALG11","ALG12","ALG13","ALG2","ALG3","ALG6","ALG8","ATP6AP1","ATP6AP2","ATP6V0A2","ATP6V1A","ATP6V1E1","B4GALT1","CAMLG","COG1","COG4","COG5","COG6","COG7","COG8","DDOST","DOLK","DPAGT1","DPM1","DPM2","DPM3","EDEM3","GALNT2","GET4","GORAB","MAGT1","MAN1B1","MGAT2","MPDU1","MPI","PGM1","PGM2L1","PMM2","RFT1","SLC35A2","SLC37A4","SLC39A8","SRD5A3","SSR4","TMEM199"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_PROTEIN_O_LINKED_GLYCOSYLATION":{"collection":"C5:HPO","systematicName":"M38087","pmid":"","exactSource":"HP:0012358","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012358","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PROTEIN_O_LINKED_GLYCOSYLATION","geneSymbols":["ATP6AP1","COG4","DPM2","DPM3","GALNT2","SLC35A2","SLC37A4","TMEM199"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DECREASED_URINARY_POTASSIUM":{"collection":"C5:HPO","systematicName":"M46233","pmid":"","exactSource":"HP:0012364","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012364","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_URINARY_POTASSIUM","geneSymbols":["CACNA1S","CLCNKB","GABRA3","KCNJ18","SERPINA6","SLC12A3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FLAT_FACE":{"collection":"C5:HPO","systematicName":"M38089","pmid":"","exactSource":"HP:0012368","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012368","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FLAT_FACE","geneSymbols":["ABCC9","ADAMTS3","ALG2","AMER1","AMMECR1","ATP6V0A2","ATRX","B3GALT6","B3GAT3","B4GALT7","BPNT2","BRPF1","CAMK2G","CCBE1","CDCA7","CDH1","CDH11","CHST3","COL11A1","COL11A2","COL2A1","COL3A1","COL9A1","COL9A2","COL9A3","CREBBP","CTNND1","DCPS","DEAF1","DNMT3B","DVL1","EBP","EHMT1","EP300","FAT4","FBXO31","FGFR2","FGFR3","FLNA","FLNB","FN1","GAD1","GATA1","GLB1","GNPTAB","GPC6","GUSB","HELLS","HSPG2","KAT5","KIAA0753","KIF22","KMT2A","LONP1","MAF","MAN2B1","MAPRE2","MATN3","MN1","MYH3","PAICS","PAK3","PAX3","PDE4D","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PEX7","PLOD3","PPP1R12A","PPP2R3C","PRMT7","PTCH1","RAB5IF","RAD21","ROR2","SLC26A2","SLC35B2","SLC39A8","SMARCA2","SMC3","SOX9","SUMF1","TAPT1","TBX22","TMCO1","TMEM70","TRIP11","TUBB","TWIST1","WNT5A","XYLT1","ZBTB24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HEMIANOPIA":{"collection":"C5:HPO","systematicName":"M38090","pmid":"","exactSource":"HP:0012377","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012377","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEMIANOPIA","geneSymbols":["AARS1","ADGRV1","AIP","AKT1","AKT3","AMACR","ARSG","BAP1","BRAF","CDH23","CEP78","CIB2","CLRN1","CTNNB1","EIF2B3","ESPN","GNAQ","GPR101","HARS1","MEN1","MT-CO1","MT-CO2","MT-CO3","MT-CYB","MT-ND1","MT-ND5","MT-ND6","MT-TC","MT-TF","MT-TK","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TV","MT-TW","MTOR","MYO7A","NF2","PCDH15","PDGFB","PDZD7","PIK3CA","POLG","PRORP","SETD5","SMARCB1","SMARCE1","SMO","SUFU","TERT","TRAF7","TREX1","TUBB2B","USH1C","USH1G","USH2A","WHRN"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FATIGUE":{"collection":"C5:HPO","systematicName":"M38091","pmid":"","exactSource":"HP:0012378","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012378","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FATIGUE","geneSymbols":["ABCC2","ABCC9","ABCD1","ABL1","ACADM","ACTA1","ACTC1","AGK","AIP","ALAS2","ALB","ALDH4A1","ANG","ANXA11","AP1S3","AP2S1","ARMC5","ARNT2","ASXL1","ATM","ATP13A2","ATP13A3","ATP7A","ATRX","ATXN2","BCL10","BCL2","BCL6","BCOR","BCR","BIRC3","BLNK","BMP6","BMPR1A","BRCA1","BRCA2","BTK","BTNL2","C1QBP","C4A","CALR","CARMIL2","CAV3","CBL","CCND1","CCNF","CCR1","CD244","CD46","CD79A","CD79B","CDC73","CDH23","CDKN2A","CFAP410","CFH","CFI","CHCHD10","CHMP2B","CIITA","CITED2","COL1A1","COL1A2","COL5A1","COL5A2","COL9A2","COQ2","CPT1A","CTLA4","CTNNB1","DAO","DBH","DCTN1","DDB2","DLST","DMD","DNAJC6","DNM1L","DNMT3A","DYSF","EIF2AK4","ELANE","EPAS1","EPCAM","EPHA4","EPOR","ERAP1","ERBB4","ERCC2","ERCC3","ERCC4","ERCC5","FAN1","FAS","FGF23","FGFR1","FH","FIG4","FIP1L1","FOXA2","FOXE1","FOXP1","FTL","FUS","GATA2","GATA4","GATA5","GATA6","GBA1","GCH1","GCK","GFAP","GIMAP5","GJA5","GLA","GLE1","GLI2","GLT8D1","GPR101","GPR35","GRM1","HACD1","HAVCR2","HBA1","HBA2","HELLPAR","HEPHL1","HESX1","HFE","HLA-B","HLA-DPA1","HLA-DPB1","HLA-DRB1","HMGCL","HNF4A","HNRNPA1","IFNGR1","IGHG2","IGHM","IGKC","IGLL1","IKZF1","IL10","IL12A","IL12A-AS1","IL12B","IL12RB1","IL18BP","IL21","IL23R","IL36RN","IMPDH2","INSR","IRF2BP2","IRF4","IRF5","ITGA7","IVNS1ABP","JAK2","KCNA5","KCNE1","KCNE2","KCNJ2","KCNJ3","KCNJ5","KCNN4","KCNQ1","KIF1B","KIF23","KIT","KL","KLRC4","KPNA3","KRAS","LBR","LHX3","LHX4","LRIF1","LRRC8A","MALT1","MAP3K20","MATR3","MAX","MC2R","MDH2","MDM4","MEFV","MEN1","MET","MLH1","MLH3","MLX","MMADHC","MMEL1","MORC2","MPL","MRAP","MSH2","MSH6","MST1","MT-TK","MYD88","MYH6","MYH7","MYL2","MYL4","NAB2","NABP1","NAGS","NAXE","NEFH","NEK1","NF1","NFKB2","NFKBIL1","NKX2-1","NKX2-5","NKX2-6","NLRC4","NLRP3","NNT","NPM1","NPPA","NR3C1","NR4A2","NUMA1","NUP155","OPA1","OPTN","OTX2","P4HA2","PALB2","PALLD","PAX8","PDGFRA","PFN1","PGM1","PHIP","PHKA2","PHKB","PHKG2","PIEZO1","PIGT","PIK3CA","PIK3CG","PIK3R1","PITX2","PLEC","PLEKHM1","PML","PMS1","PMS2","PNPLA8","PODXL","POLG","POLG2","POLR3GL","POMGNT1","PON1","PON2","PON3","POU1F1","POU2AF1","PPARGC1A","PPP2R5D","PREPL","PRKAR1A","PROKR2","PROP1","PRPH","PRTN3","PSAP","PSTPIP1","PTPN22","PTPN3","PYGM","RABL3","RACGAP1","RAPSN","RARA","RET","RHAG","RIN2","RPS20","RRM2B","RUNX1","RYR1","SCN1B","SCN2B","SCN3B","SCN4A","SCN4B","SCN5A","SCNN1A","SCNN1B","SCNN1G","SDHA","SDHAF2","SDHB","SDHC","SDHD","SELENON","SEMA4A","SEMA4D","SERPINA6","SH2B3","SIN3A","SLC11A1","SLC12A3","SLC18A2","SLC18A3","SLC22A4","SLC25A11","SLC25A26","SLC25A4","SLC26A4","SLC2A10","SLC34A2","SLC39A7","SLC3A1","SLC40A1","SLC4A1","SMAD2","SMAD3","SMAD4","SOD1","SOX2","SOX3","SPI1","SPIB","SPTBN1","SQSTM1","SRSF2","STAR","STAT1","STAT3","STAT4","STAT5B","STAT6","STEAP3","SYNJ1","TAF15","TAFAZZIN","TARDBP","TBK1","TBL1XR1","TBX19","TBX20","TCF3","TCF4","TET2","TFR2","TGFBR2","THRB","TICAM1","TK2","TLL1","TLR3","TLR4","TMEM126B","TMEM127","TNFSF15","TNPO3","TNXB","TP53","TPM2","TPM3","TRAF3","TREM2","TRHR","TRIO","TSC1","TSC2","TSHB","TSHR","TTN","TWNK","TXNRD2","UBA1","UBAC2","UBQLN2","UNC13A","UNC45B","UNC93B1","VAPB","VCP","VHL","WAS","WIPF1","XPA","XPC","YY1","ZBTB16"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LEFT_TO_RIGHT_SHUNT":{"collection":"C5:HPO","systematicName":"M41445","pmid":"","exactSource":"HP:0012382","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012382","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LEFT_TO_RIGHT_SHUNT","geneSymbols":["ACTC1","CITED2","GATA4","GATA6","MYH6","NKX2-5","TBX20","THOC6","TLL1","TTC26"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RHINITIS":{"collection":"C5:HPO","systematicName":"M38093","pmid":"","exactSource":"HP:0012384","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012384","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RHINITIS","geneSymbols":["ALG12","BLM","CARMIL2","CCDC103","CCDC39","CCDC40","CCDC65","CCNO","CDSN","CFAP221","CFAP298","CFAP300","CFAP74","CIITA","CLCN7","CLPB","COX4I2","CPN1","DBH","DNAAF1","DNAAF11","DNAAF2","DNAAF3","DNAAF4","DNAAF5","DNAAF6","DNAH1","DNAH11","DNAH5","DNAH9","DNAI1","DNAI2","DNAJB13","DNAL1","DRC1","EDA","EDARADD","ELANE","FOXJ1","GAS2L2","GAS8","GFI1","HYDIN","IDUA","IGHG2","IGKC","IL21R","IL4R","KRT74","LRRC56","MCIDAS","MS4A2","NEK10","NLRP1","NME5","NME8","ODAD1","ODAD2","ODAD3","ODAD4","OFD1","PGM3","PLA2G7","PLCG2","RAG1","RAG2","RFX5","RFXANK","RFXAP","RPGR","RSPH1","RSPH3","RSPH4A","RSPH9","SASH3","SIK3","SLC27A4","SLC29A3","SNX10","SPAG1","SPEF2","SPINK5","SRP19","SRP54","STK36","TCIRG1","TNFSF11","TTC12","ZMYND10","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BRONCHITIS":{"collection":"C5:HPO","systematicName":"M38094","pmid":"","exactSource":"HP:0012387","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012387","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BRONCHITIS","geneSymbols":["ALMS1","ATM","BLM","CACNA1C","CARMIL2","CCDC39","CCDC40","CCDC65","CD19","CD79A","CD79B","CD81","CFAP298","CFTR","CR2","CRLF1","DNAAF1","DNAAF11","DNAAF4","DNAAF5","DNAH7","DNAI1","DNAJB13","DNMT3B","DPP9","EGFR","FCHO1","GAS8","GNPTAB","GUSB","HLA-DQA1","HLA-DQB1","HYDIN","ICOS","IGHG2","IGKC","IL10RB","IL17RA","IL2RG","IRF2BP2","MAGT1","MGP","MS4A1","NBN","NFKB1","NFKB2","NOS1","ODAD2","ODAD3","PRKCD","RAC2","RFX7","RNF168","RPGR","RSPH4A","SCNN1A","SCNN1B","SCNN1G","SERPINA1","SLC34A2","SMARCA2","SPAG1","SYK","TAFAZZIN","TAP1","TAP2","TAPBP","TNFRSF13B","TNFRSF13C","TNFSF12","TRAF3IP1","USP26","ZBTB24","ZMYND10"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APPENDICULAR_HYPOTONIA":{"collection":"C5:HPO","systematicName":"M41446","pmid":"","exactSource":"HP:0012389","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012389","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APPENDICULAR_HYPOTONIA","geneSymbols":["CACNA1C","CWF19L1","EXOSC9","FBXO28","FNIP1","GBA1","GEMIN5","GNPTAB","GOSR2","LGI3","NAPB","NRROS","PEX3","PRPS1","SLC30A9","UNC80"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ANAL_FISSURE":{"collection":"C5:HPO","systematicName":"M41447","pmid":"","exactSource":"HP:0012390","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012390","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANAL_FISSURE","geneSymbols":["ADAM17","COL7A1","CYBC1","EGFR","MMP1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPOREFLEXIA_OF_UPPER_LIMBS":{"collection":"C5:HPO","systematicName":"M41448","pmid":"","exactSource":"HP:0012391","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012391","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOREFLEXIA_OF_UPPER_LIMBS","geneSymbols":["ACOX1","ATP6AP2","GDAP1","HSPB1","MT-TE","PMP22","RUBCN","RYR1","ST3GAL5"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ALLERGY":{"collection":"C5:HPO","systematicName":"M38095","pmid":"","exactSource":"HP:0012393","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012393","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ALLERGY","geneSymbols":["ABCC9","ADA","ARL6","BBS1","CAMK2B","CARD11","CARMIL2","CCDC28B","CDSN","CHD1","COX4I2","CPN1","CSTA","CTLA4","DOCK8","DPP9","DSG1","FOCAD","FOXP1","FOXP3","IGHG2","IGKC","IL21R","IL4R","IL6ST","IPO8","JAK1","KRT74","MS4A2","MTOR","PGM3","PLA2G7","PLCG2","PSTPIP1","RBM8A","SIK3","SLC27A4","SOX6","SPINK5","SPTBN1","TGM5"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_AORTIC_ATHEROSCLEROTIC_LESION":{"collection":"C5:HPO","systematicName":"M38096","pmid":"","exactSource":"HP:0012397","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012397","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AORTIC_ATHEROSCLEROTIC_LESION","geneSymbols":["ABCG5","ABCG8","APOB","APOE","CYP7A1","LDLR","LDLRAP1","LMNA","PCSK9"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PERIPHERAL_EDEMA":{"collection":"C5:HPO","systematicName":"M38097","pmid":"","exactSource":"HP:0012398","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012398","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERIPHERAL_EDEMA","geneSymbols":["EPHB4","FLNC","FSHR","KIF1A","KIF20A","MYPN","PRKAG2","SLC34A2","TLL1","TNNI3","TNNT2","ZNHIT3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CIRCULATING_ALDOLASE_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M38098","pmid":"","exactSource":"HP:0012400","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012400","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_ALDOLASE_CONCENTRATION","geneSymbols":["ALDOA","ALDOB","B3GALNT2","B4GAT1","COL4A1","CRPPA","DAG1","FKRP","FKTN","HSPG2","INPP5K","LARGE1","LPIN1","MT-CO1","MT-CO3","OBSCN","PFKM","POMGNT1","POMGNT2","POMK","POMT1","POMT2","RXYLT1","SIL1","TGFB1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_URINE_ALPHA_KETOGLUTARATE_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M41449","pmid":"","exactSource":"HP:0012401","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012401","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_URINE_ALPHA_KETOGLUTARATE_CONCENTRATION","geneSymbols":["AASS","ALDH4A1","ATP6V1B2","COX16","DLD","GLUD1","NFU1","OGDH","PIGB","SDHB","SLC13A3","SLC25A1","TBC1D24","TPK1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MEDULLARY_NEPHROCALCINOSIS":{"collection":"C5:HPO","systematicName":"M41450","pmid":"","exactSource":"HP:0012408","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012408","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MEDULLARY_NEPHROCALCINOSIS","geneSymbols":["ABCC6","ADAT3","CTNS","CYP24A1","ENPP1","FGF23","MAGED2","POLRMT","SLC34A1","SLC34A3","TOR1A","TTC26"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PURE_RED_CELL_APLASIA":{"collection":"C5:HPO","systematicName":"M41451","pmid":"","exactSource":"HP:0012410","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012410","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PURE_RED_CELL_APLASIA","geneSymbols":["ADA2","CTLA4","EPO","GATA1","HEATR3","PNP","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS7","TP53","TSR2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PREMATURE_PUBARCHE":{"collection":"C5:HPO","systematicName":"M38099","pmid":"","exactSource":"HP:0012411","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012411","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PREMATURE_PUBARCHE","geneSymbols":["AIP","CYP11B1","HSD11B1","HSD3B2","MAGEL2","MEN1","MKRN3","NDN","OCA2","PAPSS2","SIM1","SNRPN","TANGO2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PREMATURE_ADRENARCHE":{"collection":"C5:HPO","systematicName":"M41452","pmid":"","exactSource":"HP:0012412","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012412","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PREMATURE_ADRENARCHE","geneSymbols":["CYP11B1","GRB10","HSD3B2","MAGEL2","NDN","OCA2","SIM1","SNRPN","USP7"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_BLOOD_GAS_LEVEL":{"collection":"C5:HPO","systematicName":"M38100","pmid":"","exactSource":"HP:0012415","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012415","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BLOOD_GAS_LEVEL","geneSymbols":["ABCA3","ACTA1","BTNL2","CACNA1S","CD40LG","CNOT1","CSF2RA","CSF2RB","EIF2AK4","ENG","FBN1","FGFR3","GATA6","HACD1","HBB","HLA-DRB1","ITGA7","LONP1","LRP12","MAP3K20","MARS1","MYL2","NDUFS8","NKX2-1","PHOX2B","PTRH2","RHAG","RHCE","RHD","RYR1","SELENON","SFTPB","SFTPC","SLC34A2","SLC35A1","SMPD1","STAC3","TPM2","TPM3","ZFPM2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MECONIUM_STAINED_AMNIOTIC_FLUID":{"collection":"C5:HPO","systematicName":"M43433","pmid":"","exactSource":"HP:0012420","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012420","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MECONIUM_STAINED_AMNIOTIC_FLUID","geneSymbols":["ABCB11","ABCB4","ADNP","ALDH7A1","ATP8B1","NR1H4","PHIP","PLPBP","SLC6A5"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_OPTIC_DISC_DRUSEN":{"collection":"C5:HPO","systematicName":"M38101","pmid":"","exactSource":"HP:0012426","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012426","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OPTIC_DISC_DRUSEN","geneSymbols":["ABCC6","GUCY2D","IFT172","LCA5","LRAT","MFRP","PRPF8","RPE65","SPATA7","TMEM98","XYLT1","XYLT2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PROMINENT_CALCANEUS":{"collection":"C5:HPO","systematicName":"M41453","pmid":"","exactSource":"HP:0012428","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012428","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROMINENT_CALCANEUS","geneSymbols":["CCDC8","DLK1","DYM","GFM2","MEG3","OBSL1","RAB33B","RSPRY1","RTL1","SATB2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APLASIA_HYPOPLASIA_OF_THE_CEREBRAL_WHITE_MATTER":{"collection":"C5:HPO","systematicName":"M38102","pmid":"","exactSource":"HP:0012429","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012429","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_CEREBRAL_WHITE_MATTER","geneSymbols":["FDXR","KDM1A","MT-CO1","MT-CO2","MT-CO3","MT-ND1","MT-ND4","MT-ND5","MT-ND6","MT-TF","MT-TH","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TW","NACC1","NARS1","PSAT1","SLC2A1","STRADA","TMX2","WARS2","ZEB2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CEREBRAL_WHITE_MATTER_HYPOPLASIA":{"collection":"C5:HPO","systematicName":"M38103","pmid":"","exactSource":"HP:0012430","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012430","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CEREBRAL_WHITE_MATTER_HYPOPLASIA","geneSymbols":["FDXR","KDM1A","NACC1","NARS1","PSAT1","SLC2A1","STRADA","TMX2","WARS2","ZEB2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CHRONIC_FATIGUE":{"collection":"C5:HPO","systematicName":"M38104","pmid":"","exactSource":"HP:0012432","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012432","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHRONIC_FATIGUE","geneSymbols":["ALDH4A1","BRCA1","BRCA2","CDKN2A","EIF2AK4","IVNS1ABP","KRAS","MC2R","MDM4","MRAP","NLRP3","NNT","PALB2","PALLD","PSAP","RABL3","SMAD2","SMAD3","SMAD4","STAR","TK2","TP53","TXNRD2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_SOCIAL_BEHAVIOR":{"collection":"C5:HPO","systematicName":"M38105","pmid":"","exactSource":"HP:0012433","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012433","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SOCIAL_BEHAVIOR","geneSymbols":["AARS1","ABCA7","ABCC8","ACOX1","ADNP","ADSL","ALG11","AMPD2","AP2M1","AP4B1","AP4E1","AP4M1","AP4S1","APC2","APP","ARSA","ATP10A","ATRX","BAZ1B","BCL7B","BUD23","C12orf4","CACNA1G","CACNA1H","CAMTA1","CARS1","CCNK","CDC40","CDKL5","CHAMP1","CHD2","CHMP1A","CIT","CLIP2","CLTC","CNTNAP2","COG6","CREBBP","CSF1R","CTNNA2","DDX59","DLK1","DNAJC30","DNAJC6","DPYD","DYRK1A","EBP","EIF4H","ELN","EP300","ERCC2","ERCC3","EXTL3","FKBP6","FMR1","FOXG1","FOXP2","GABBR2","GABRA1","GABRB3","GABRG2","GATAD2B","GFM2","GLI3","GRIK2","GRIN1","GTF2E2","GTF2H5","GTF2I","GTF2IRD1","GTF2IRD2","HERC1","HSD17B10","HTRA2","IFNG","IQSEC2","ITPR1","JRK","KANSL1","LCA5","LIMK1","LINGO1","LNPK","LRAT","LRRK2","MAN2C1","MAPT","MBD5","MECP2","MED12","MED13L","MEG3","METTL27","MLXIPL","MPLKIP","NCF1","NEXMIF","NF1","NLGN1","NONO","NOVA2","NTNG1","NTNG2","OCA2","OPHN1","PARK7","PCDH19","PDE2A","PGAP1","PIGH","PIGS","PINK1","PLA2G6","PODXL","POGZ","POLA1","POU4F1","PPIL1","PRKN","PSAP","PSEN1","PSEN2","PUS3","RFC2","RLIM","RNF113A","RPE65","RTL1","SCN1A","SETBP1","SETD2","SH2B1","SHANK3","SLC2A1","SLC6A1","SLC6A17","SLC6A8","SLC9A6","SMARCA2","SMC1A","SNCA","SNRPN","SNX14","SORL1","SPATA7","SPTBN1","STX1A","SYNGAP1","SYNJ1","TARS1","TBC1D2B","TBL2","TBR1","TELO2","TET3","TMEM270","TMTC3","TOMM40","TREM2","TRIM8","TSC1","TSC2","TTC19","TUBB3","UBE3A","UCHL1","VPS13C","VPS37D","WARS2","WDR4","WLS","ZMYND11"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DELAYED_SOCIAL_DEVELOPMENT":{"collection":"C5:HPO","systematicName":"M41454","pmid":"","exactSource":"HP:0012434","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012434","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DELAYED_SOCIAL_DEVELOPMENT","geneSymbols":["ABCC8","AMPD2","APC2","CACNA1G","CCNK","CDC40","CIT","COG6","CTNNA2","FOXP2","ITPR1","LCA5","LNPK","LRAT","PPIL1","RPE65","SNX14","SPATA7","TMTC3","TUBB3","WLS"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_GALLBLADDER_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M43434","pmid":"","exactSource":"HP:0012437","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012437","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_GALLBLADDER_MORPHOLOGY","geneSymbols":["ABCB11","ABCB4","ABCG8","ACVRL1","AIRE","ALAS2","ALDOA","AMACR","ANK1","ARSA","ARVCF","ASXL1","ATP8B1","B3GLCT","BAZ1B","BCL7B","BLVRA","BUD23","CC2D2A","CCDC47","CLIP2","CNOT1","COMT","CYP27A1","CYP7A1","DMPK","DNAJC30","EIF4H","ELN","ENG","EPB41","EPB42","FECH","FKBP6","FOXF1","GATA6","GBA1","GCGR","GDF2","GNE","GP1BB","GPI","GPR35","GTF2I","GTF2IRD1","GTF2IRD2","GYPC","HBB","HIRA","HK1","INTU","JMJD1C","KCNN4","KDM5C","LIMK1","MED25","METTL27","MLXIPL","MST1","NCF1","PEX19","PFKM","PIEZO1","PKHD1","PKLR","PSAP","RFC2","RFX6","RREB1","SC5D","SCNN1A","SCNN1B","SCNN1G","SEC23B","SEC24C","SEMA4D","SLC4A1","SMAD4","SMPD1","SON","SPTA1","SPTB","STX1A","TBL2","TBX1","TCF4","TFE3","TMEM270","TPI1","UFD1","UQCRFS1","UROS","VPS37D","VPS4A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_MYELINATION":{"collection":"C5:HPO","systematicName":"M38108","pmid":"","exactSource":"HP:0012447","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012447","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MYELINATION","geneSymbols":["AARS1","ABAT","ABCA1","ABCD1","ABHD12","ACBD5","ACER3","ACO2","ACOX1","ACTL6B","ACY1","ADAMTSL1","ADAR","ADARB1","ADAT3","ADCY6","ADGRG1","ADSL","AFG3L2","AHCY","AHDC1","AIFM1","AIMP1","AIMP2","ALDH3A2","ALDH5A1","ALDH6A1","ALDH7A1","ALG11","ALG12","ALG13","ALG14","ALG2","ALG8","ALG9","ALS2","AP3B2","AP3D1","APTX","ARF1","ARHGEF10","ARID1B","ARNT2","ARSA","ARV1","ARX","ASH1L","ASNS","ASPA","ASXL1","ATP11A","ATP1A2","ATP1A3","ATP6AP2","ATP6V1A","ATP7B","ATP9A","ATXN2","BAG3","BCAP31","BCAS3","BCS1L","BMP4","BOLA3","BRAT1","BRPF1","C18orf32","C2CD3","C2orf69","CACNA1A","CACNA1B","CACNA1I","CACNA2D1","CARS1","CASK","CDC40","CDK19","CDKL5","CELF2","CHAMP1","CHKA","CLCN3","CLCN4","CLCN7","CLDN11","CLP1","CLPB","CLTC","CLTCL1","CNKSR2","CNOT3","CNTNAP1","COA7","COA8","COG5","COG7","COPB2","COQ7","COX14","COX6A1","COX6B1","COX7B","CREBBP","CSF1R","CTC1","CTDP1","CTNNB1","CTSK","CUL3","CYB5A","CYB5R3","CYFIP2","CYP27A1","D2HGDH","DAG1","DALRD3","DARS1","DARS2","DCAF8","DCX","DDOST","DDX6","DEGS1","DHDDS","DHFR","DHH","DHX16","DHX30","DHX37","DMXL2","DNAJC3","DNM1","DNM1L","DNM2","DNMT1","DOHH","DPAGT1","DPM1","DYRK1A","EARS2","EDNRB","EEF1A2","EGR2","EIF2AK2","EIF2B1","ELOVL1","ELOVL4","ELP1","EP300","EPRS1","ERCC1","ERCC2","ERCC3","ERCC4","ERCC5","ERCC6","ERCC8","EXOC2","EXOC8","EXOSC1","EXOSC2","EXOSC5","EZH2","FA2H","FANCB","FANCL","FAR1","FBP2","FBXL4","FBXO28","FCSK","FDXR","FGD4","FGF12","FGF13","FIG4","FLCN","FLRT1","FLVCR1","FOCAD","FOXG1","FOXP1","FOXRED1","FRMD5","FRMPD4","FUCA1","FUS","FZR1","GAA","GABBR2","GABRA2","GABRA5","GABRB2","GABRG2","GALC","GAN","GATAD2B","GBF1","GCDH","GDAP1","GEMIN4","GET4","GFAP","GFM1","GJB1","GJC2","GLRX5","GLS","GLUL","GLYCTK","GMNN","GNAO1","GNB1","GNB2","GNB4","GOLGA2","GPT2","GRIK2","GRIN1","GRIN2A","GRIN2D","GRM7","GTF2E2","GTF2H5","GTPBP3","H4C5","HACE1","HARS1","HCFC1","HCN1","HEXB","HIKESHI","HK1","HLA-DQB1","HLA-DRB1","HNRNPU","HS2ST1","HSD17B4","HSPB8","HSPD1","HTRA1","HYCC1","IBA57","IDH1","IDUA","IER3IP1","IFIH1","INF2","INSR","INTU","IREB2","ISCA1","ISCA2","ITPA","JPH1","KARS1","KCNA1","KCNA2","KCNB1","KCNC2","KCNJ10","KCNN2","KCNQ2","KCNT1","KDM1A","KIDINS220","KIF1A","KIF1B","KIF1C","KIF5A","KLC2","KMT2E","L2HGDH","LAMB1","LEMD2","LIAS","LIG3","LIPT1","LIPT2","LITAF","LMNA","LMNB1","LMX1B","LRPPRC","LSM11","MADD","MAN2B1","MANBA","MAPK8IP3","MARS1","MAT1A","MCOLN1","MDH2","MED17","MED27","MFN2","MLYCD","MMACHC","MME","MMUT","MOCS1","MOCS2","MOGS","MORC2","MPLKIP","MPV17","MPZ","MRPS22","MT-ATP6","MT-CO1","MT-CO2","MT-CO3","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND5","MT-ND6","MT-TF","MT-TH","MT-TK","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TV","MT-TW","MTHFS","MTMR2","MTRFR","MTRR","MTTP","NACC1","NADK2","NAE1","NARS1","NARS2","NCDN","NDRG1","NDUFA1","NDUFA11","NDUFA6","NDUFAF1","NDUFAF2","NDUFAF3","NDUFAF4","NDUFAF5","NDUFAF8","NDUFB10","NDUFB11","NDUFB3","NDUFB9","NDUFS1","NDUFS2","NDUFS3","NDUFS4","NDUFS6","NDUFS7","NDUFS8","NDUFV1","NDUFV2","NECAP1","NEDD4L","NEFL","NEUROD2","NGF","NGLY1","NKX6-2","NMNAT1","NOTCH2NLC","NR2F1","NRCAM","NRROS","NTRK1","NTRK2","NUBPL","NUP133","NUP188","NUS1","OCA2","OSTM1","PACS2","PAK1","PARS2","PC","PDCD1","PDGFRB","PDYN","PEX1","PEX10","PEX13","PEX16","PEX19","PEX7","PGAP1","PGAP2","PGAP3","PGM3","PHACTR1","PHGDH","PI4KA","PIBF1","PIGA","PIGG","PIGL","PIGN","PIGO","PIGP","PIGQ","PIGS","PIGU","PIGV","PIGW","PIGY","PKDCC","PLAA","PLCB1","PLEKHG2","PLEKHG5","PLP1","PLPBP","PMM2","PMP2","PMP22","PNKP","PNPT1","POGZ","POLG","POLR1C","POLR2A","POLR3A","POLR3B","POU3F3","PPFIBP1","PPIL1","PPP1R15B","PPP2CA","PPP2R1A","PPP3CA","PRF1","PRKDC","PRMT7","PRPS1","PRUNE1","PRX","PSAP","PSAT1","PTEN","PTRH2","PURA","PYCR2","QARS1","RAB11B","RAB3GAP1","RAB3GAP2","RAB7A","RAI1","RARS1","RBM8A","REPS1","RERE","RETREG1","RFC1","RFX7","RHOBTB2","RMND1","RNASEH1","RNASEH2A","RNASEH2B","RNASEH2C","RNASET2","RNF113A","RNF13","RNF168","RNF220","RNU7-1","RRM2B","SACS","SAMHD1","SATB2","SBF1","SBF2","SCN1A","SCN1B","SCN2A","SCN3A","SCN8A","SCN9A","SDHB","SELENOI","SEPSECS","SETD1A","SH3TC2","SHANK3","SHPK","SIGMAR1","SIK1","SIN3A","SLC12A5","SLC12A6","SLC13A5","SLC16A2","SLC1A2","SLC1A4","SLC25A1","SLC25A12","SLC25A22","SLC2A1","SLC30A10","SLC32A1","SLC33A1","SLC35A2","SLC35B2","SLC38A3","SLC6A1","SLC6A8","SMG9","SMPD1","SMPD4","SNIP1","SNORD118","SOX10","SOX3","SP110","SPATA5","SPG11","SPTAN1","SPTBN1","SPTBN4","SPTLC1","STAMBP","STXBP1","SUMF1","SURF1","SYNGAP1","SYNJ1","SYT1","SZT2","TAF13","TAF2","TAOK1","TARS1","TBC1D24","TBCD","TBCE","TDP1","TFG","TGFB1","TIAM1","TIMM22","TIMMDC1","TKFC","TMEM106B","TMEM126B","TMEM147","TMEM163","TMEM240","TMEM63A","TMTC3","TNPO2","TNR","TPR","TRAK1","TRAPPC11","TRAPPC2L","TREM2","TREX1","TRIM2","TRIM8","TRMT10A","TRMT5","TRNT1","TRRAP","TTC26","TUBB4A","TUFM","TWNK","TXN2","TYMP","TYROBP","UBA5","UBE3A","UBTF","UFC1","UGDH","UPB1","VPS11","VPS13A","VPS33A","VRK1","WARS1","WARS2","WDR26","WNK1","WWOX","YARS1","YIF1B","YME1L1","YRDC","YWHAG","YY1","ZC4H2","ZFR","ZFYVE26","ZMIZ1","ZNF148","ZNF335","ZNF526","ZNF699","ZNHIT3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DELAYED_MYELINATION":{"collection":"C5:HPO","systematicName":"M38109","pmid":"","exactSource":"HP:0012448","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012448","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DELAYED_MYELINATION","geneSymbols":["AARS1","ACTL6B","ACY1","ADAMTSL1","ADARB1","ADAT3","AHCY","AHDC1","AIFM1","ALDH5A1","ALDH6A1","ALDH7A1","ALG11","ALG12","ALG13","ALG14","ALG2","ALG9","AP3D1","ARF1","ARID1B","ARNT2","ARX","ASH1L","ASNS","ASXL1","ATP1A3","ATP6AP2","ATP9A","BCS1L","BMP4","BRAT1","C18orf32","CACNA1I","CARS1","CASK","CDC40","CDK19","CDKL5","CHAMP1","CLCN3","CLCN4","CLCN7","CLP1","CLPB","CLTC","CLTCL1","CNOT3","COG5","COG7","COPB2","COX7B","CREBBP","CTNNB1","CUL3","CYB5A","CYB5R3","D2HGDH","DCX","DDX6","DHFR","DHX30","DHX37","DMXL2","DNM1L","DOHH","DPM1","EARS2","EIF2AK2","ELOVL4","EP300","ERCC6","EXOC8","EXOSC1","EXOSC2","EZH2","FANCB","FANCL","FAR1","FBXL4","FBXO28","FCSK","FDXR","FLCN","FOCAD","FOXG1","FOXP1","FOXRED1","FRMD5","FRMPD4","FZR1","GABRG2","GATAD2B","GCDH","GEMIN4","GET4","GFM1","GLS","GLYCTK","GMNN","GNAO1","GNB1","GNB2","GOLGA2","GRIK2","GRIN1","GRM7","GTF2H5","H4C5","HACE1","HCFC1","HIKESHI","HNRNPU","HS2ST1","IDH1","IER3IP1","IFIH1","IREB2","ISCA1","ITPA","KCNA1","KCNC2","KCNN2","KCNQ2","KCNT1","KDM1A","KIDINS220","KIF5A","KMT2E","LIPT1","LIPT2","LMX1B","MADD","MAN2B1","MAPK8IP3","MDH2","MED17","MLYCD","MMUT","MORC2","MRPS22","MTHFS","MTRR","NACC1","NADK2","NAE1","NARS1","NCDN","NEDD4L","NEUROD2","NGLY1","NMNAT1","NR2F1","NRCAM","NRROS","NTRK2","NUP133","NUP188","OCA2","PAK1","PEX7","PGAP1","PHACTR1","PHGDH","PIBF1","PIGA","PIGN","PIGP","PIGQ","PIGS","PIGU","PIGV","PKDCC","PLAA","PLCB1","PLPBP","PMM2","PNKP","PNPT1","POGZ","POLR2A","POLR3B","POU3F3","PPIL1","PPP1R15B","PPP2CA","PPP2R1A","PPP3CA","PRMT7","PRPS1","PRUNE1","PSAT1","PURA","RAB11B","RAB3GAP1","RBM8A","RERE","RFX7","RHOBTB2","RMND1","RNASEH2C","RNF13","RNU7-1","SATB2","SCN1A","SCN1B","SCN2A","SEPSECS","SETD1A","SHANK3","SIK1","SIN3A","SLC12A5","SLC13A5","SLC16A2","SLC1A2","SLC1A4","SLC25A1","SLC25A22","SLC2A1","SLC32A1","SLC35A2","SLC35B2","SLC6A1","SLC6A8","SMG9","SMPD1","SPATA5","SPTBN1","STAMBP","STXBP1","SYT1","TAF13","TAF2","TBC1D24","TBCE","TGFB1","TIMM22","TKFC","TMEM106B","TMEM147","TMEM163","TMEM240","TMEM63A","TNPO2","TNR","TPR","TRAPPC2L","TRIM8","TRMT10A","TRMT5","TRNT1","TRRAP","TXN2","UBA5","UBE3A","UFC1","UGDH","UPB1","VPS11","VPS33A","WARS1","WARS2","WWOX","YME1L1","YRDC","YY1","ZC4H2","ZMIZ1","ZNF148","ZNF335","ZNF526"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CHRONIC_CONSTIPATION":{"collection":"C5:HPO","systematicName":"M38110","pmid":"","exactSource":"HP:0012450","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012450","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHRONIC_CONSTIPATION","geneSymbols":["ABL1","ADAT3","ADNP","AFF3","ARSB","ASH1L","BICRA","CAMK2B","CAMTA1","CNP","COL1A1","COL5A1","COL5A2","CREBBP","DCPS","DDOST","DNAJC13","EIF4G1","EIF5A","ELF4","ELN","EP300","ERBB2","FAR1","FBXO28","FGF12","GATAD2B","GBA1","GIGYF2","GNB2","GRIA1","H1-4","H3-3A","H3-3B","H4C5","HIVEP2","HNRNPH2","HS2ST1","IGBP1","IPO8","KMT5B","LBX1","LMNB1","LMNB2","LRRK2","MADD","MAGEL2","MARS2","MECP2","MED13","MEFV","MLXIPL","MLYCD","MNX1","MOGS","MSL3","MYH11","MYO1H","NGLY1","NSD2","ODC1","OPA1","OTUD6B","PAK2","PCGF2","PHOX2B","POGZ","POU4F1","PPP1CB","PPP1R21","PPP2R1A","PRKG2","PSMB8","RAI1","RORA","SETD1A","SETD5","SH2B1","SLC12A2","SLC25A36","SLC38A3","SMO","SNCA","SOX17","SPART","SPATA5","SPOP","SUPT16H","TANC2","TAOK1","TBCD","TCEAL1","TFE3","TMCO1","TNFRSF1A","TRIM8","TRIO","UBE2A","UFC1","UGP2","UPF3B","USP7","USP9X","VPS35","WASF1","ZNF292"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RESTLESS_LEGS":{"collection":"C5:HPO","systematicName":"M38111","pmid":"","exactSource":"HP:0012452","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012452","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RESTLESS_LEGS","geneSymbols":["ATXN7","CHCHD2","DNAJC6","FTL","HTRA2","LRRK2","MFN2","NEFL","PARK7","PINK1","PODXL","PRKN","SNCA","SYNJ1","UCHL1","VPS13C"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ELEVATED_TRANSFERRIN_SATURATION":{"collection":"C5:HPO","systematicName":"M43435","pmid":"","exactSource":"HP:0012463","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012463","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELEVATED_TRANSFERRIN_SATURATION","geneSymbols":["BMP6","FTH1","HAMP","HFE","HJV","PKLR","SLC25A38","SLC40A1","STEAP3","TFR2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INFANTILE_SPASMS":{"collection":"C5:HPO","systematicName":"M38112","pmid":"","exactSource":"HP:0012469","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012469","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INFANTILE_SPASMS","geneSymbols":["ACTL6B","ADGRG1","ALG13","ALG14","ALG2","APC2","ARFGEF1","ARX","ASAH1","ATAD1","ATP2B1","ATP6V1A","BTD","CASK","CDC40","CDH2","CDK19","CDKL5","CEP85L","CHD3","CLCN4","CNPY3","CTNNA2","CUL3","D2HGDH","DCX","DEPDC5","DHX16","DHX37","DMXL2","DNM1","DOCK7","DOLK","DPAGT1","EEF1A2","ERCC5","ERMARD","FBLN1","FBXO28","GABBR2","GABRB3","GABRG2","GCDH","GNAO1","GNB1","GOLGA2","GRIN1","GRIN2B","GRM7","GUF1","HCFC1","HDAC4","HIBCH","HK1","IFNG","KCNA1","KCNB1","KCNQ5","KDM4B","KIF1A","LONP1","MACF1","MAPK1","MECP2","MGAT2","MMACHC","MT-ATP6","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND5","MT-ND6","MT-TK","MT-TL1","MT-TV","MT-TW","NACC1","NAXD","NDUFAF8","NEDD4L","NEUROD2","NEXMIF","NGLY1","NPRL2","NPRL3","NTNG1","NTRK2","OGDHL","PAFAH1B1","PCDH12","PDHA1","PHACTR1","PI4KA","PIGA","PIGP","PIGQ","PLCB1","PNKP","PPIL1","PRRT2","PTPN23","RALGAPA1","RNF13","RUSC2","SCN1B","SCN2A","SEPSECS","SIK1","SLC19A3","SLC1A4","SLC25A10","SLC25A22","SLC32A1","SLC35A2","SMC1A","SPATA5","SPATA5L1","SPTAN1","SPTBN1","SRPX2","ST3GAL3","STAMBP","STRADA","STXBP1","SUCLA2","TANGO2","TRIM8","TRPM3","TSC1","TSC2","TSEN15","TSEN2","TSEN34","TSEN54","TUBA1A","TUBA8","TUBB2A","TUBB2B","TUBB3","TUBG1","UBA5","UFC1","UFSP2","VPS53","WDR45","ZNHIT3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_THICK_VERMILION_BORDER":{"collection":"C5:HPO","systematicName":"M38113","pmid":"","exactSource":"HP:0012471","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012471","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THICK_VERMILION_BORDER","geneSymbols":["ABCC9","ACER3","ACSL4","ADAM22","ADAMTS2","ADAT3","ADNP","AFF2","AFF3","AGA","AIMP2","AIP","AMER1","AMMECR1","ANKRD11","ANTXR1","AP1S2","AP2M1","AP4S1","APC","ARID1A","ARID1B","ARID2","ATP6V1B2","ATRX","AUTS2","B9D1","BAZ1B","BCAS3","BCL7B","BRAF","BRCA1","BUD23","CA2","CACNA1I","CAMTA1","CBL","CCDC47","CCDC8","CDC45","CDC6","CDH11","CDK13","CDKL5","CDT1","CHD2","CILK1","CIT","CLIP2","CNTNAP1","COG6","COG7","COL11A1","CUL4B","CUL7","CWC27","DEAF1","DENND5A","DLK1","DNAJC30","DOCK7","DPF2","DPYSL5","DYRK1A","EBF3","ECM1","EDA","EDAR","EDARADD","EDEM3","EHMT1","EIF2S3","EIF4H","ELN","EPG5","ERF","ERMARD","EXOSC1","EXOSC5","FBN1","FBXO31","FHL1","FIBP","FKBP6","FLNA","FOXP1","FRA10AC1","FRMD4A","FTSJ1","FUCA1","GALNT2","GJA5","GJA8","GLA","GMNN","GNAI1","GNS","GPC3","GPC4","GPR101","GRIA1","GRIA3","GTF2I","GTF2IRD1","GTF2IRD2","H4C5","HDAC4","HECTD4","HECW2","HNRNPH2","HRAS","HUWE1","IDS","IDUA","IFT52","INSR","JARID2","KAT5","KAT8","KCNE5","KCNH1","KCNJ8","KCNK9","KCNN3","KDF1","KDM4B","KDM6B","KIF11","KIF15","KIF7","KIFBP","KMT2C","KRAS","KREMEN1","LARP7","LIMK1","LTBP1","LTBP3","LZTR1","MADD","MAN1B1","MCM5","MED12","MEG3","METTL27","MINPP1","MLXIPL","MOCS1","MOCS2","MRAS","MYCN","NAA10","NAA20","NAGA","NANS","NCF1","NEU1","NEXMIF","NF1","NFIX","NOG","NONO","NRAS","NSUN2","OBSL1","OFD1","OGT","ORC1","ORC4","ORC6","P4HTM","PAK3","PCDHGC4","PHGDH","PIDD1","PIGL","POU4F1","PPP1CB","PPP1R21","PPP3CA","PRIM1","PSMB8","PTDSS1","PTH1R","PTPN11","PUS7","RAF1","RASA2","RBL2","RBMX","RET","RFC2","RHOBTB2","RIN2","RIT1","RNF135","RNF2","RNU12","RNU4ATAC","RPS23","RPS6KA3","RPS7","RRAS","RRAS2","RSPRY1","RTL1","SC5D","SCN1A","SCUBE3","SEC31A","SET","SETBP1","SETD1B","SH3PXD2B","SHOC2","SIN3A","SLC2A1","SLC35A2","SLC6A1","SMARCA2","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SMC5","SMG8","SMG9","SMS","SNX14","SOS1","SOS2","SOX11","SOX18","SOX4","SPATA5L1","SPEN","SPRED2","SPTBN1","SRD5A3","STAG2","STRADA","STX1A","SUPT16H","SYNGAP1","TASP1","TBC1D24","TBCK","TBL2","TCF4","TFAP2B","TFE3","THOC6","TMEM147","TMEM270","TMEM53","TOE1","TRAF6","TRIO","TSPEAR","TWIST2","UGDH","USP9X","VPS33A","VPS37D","VPS51","WDR26","XYLT1","YY1","ZBTB20","ZEB2","ZMYM2","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ECLABION":{"collection":"C5:HPO","systematicName":"M38114","pmid":"","exactSource":"HP:0012472","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012472","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ECLABION","geneSymbols":["ABCA12","ABHD5","ADAMTS2","ADNP","ALOX12B","ALOXE3","ANTXR1","AP4B1","AP4E1","AP4M1","AP4S1","ASPRV1","ASXL3","ATRX","AXIN2","BAZ1B","BCAS3","BCL11A","BCL7B","BDNF","BMP2","BUD23","CCDC8","CDH11","CDKL5","CERS3","CHAMP1","CHN1","CLIC2","CLIP2","CREBBP","CUL7","CYP4F22","DENND5A","DHX30","DIS3L2","DNAJC30","DNMT3A","DOCK7","EDA","EDA2R","EDAR","EDARADD","EDNRA","EEF1A2","EHMT1","EIF4H","ELN","EPG5","ERCC1","ERCC2","ERCC5","ERCC6","FBXL4","FBXO11","FGD1","FGFR1","FHL1","FKBP6","FOXC1","FOXG1","FRMD4A","GBA1","GTF2H5","GTF2I","GTF2IRD1","GTF2IRD2","H3-3A","H4C5","H4C9","HGSNAT","HRAS","HSPG2","IDUA","IFT122","IFT43","IFT52","IGF1R","IRF6","IRX5","KANSL1","KCNH1","KCNK4","KCNMA1","KIF7","KIFBP","KMT2C","LIMK1","LIPN","LRP6","MAFB","MAN1B1","MAP1B","MBD5","MCOLN1","MDH1","MECP2","MED12L","MED13L","MED25","METTL27","MGAT2","MLXIPL","MSX1","MYCN","MYO18B","NAA10","NCF1","NFIX","NIPAL4","NRAS","OBSL1","OCRL","PACS2","PAX6","PAX9","PCDHGC4","PIGL","PITX2","PLXND1","POMGNT1","PUS7","QRICH1","RAB3GAP1","RAB3GAP2","RAI1","REV3L","RFC2","RIN2","RPL10","RPS6KA3","SALL4","SCARF2","SDR9C7","SETD1A","SLC25A24","SMARCA2","SMARCA4","SMG9","SMS","SNRPN","SOX11","SPECC1L","SRCAP","STX1A","SULT2B1","SUMO1","TBC1D24","TBL1XR1","TBL2","TCF3","TFAP2A","TFAP2B","TFE3","TGFA","TGM1","TMEM147","TMEM270","TNPO2","TTC26","VPS37D","WDR19","WDR26","WDR35","WNT10A","WNT10B","WT1","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_TONGUE_ATROPHY":{"collection":"C5:HPO","systematicName":"M38115","pmid":"","exactSource":"HP:0012473","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012473","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TONGUE_ATROPHY","geneSymbols":["DOK7","ECEL1","EXOSC3","FRG1","GSN","IGHMBP2","KY","MORC2","NEFL","NOP56","OPTN","PANK2","SBF2","SH3TC2","SLC52A3","SPTLC1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DECREASED_SPECIFIC_PNEUMOCOCCAL_ANTIBODY_LEVEL":{"collection":"C5:HPO","systematicName":"M43436","pmid":"","exactSource":"HP:0012476","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012476","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_SPECIFIC_PNEUMOCOCCAL_ANTIBODY_LEVEL","geneSymbols":["CD81","CR2","CTPS1","IGHG2","IGKC","PIK3CD","TNFRSF9","ZAP70"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_TEMPOROMANDIBULAR_JOINT_ANKYLOSIS":{"collection":"C5:HPO","systematicName":"M47212","pmid":"","exactSource":"HP:0012478","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012478","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TEMPOROMANDIBULAR_JOINT_ANKYLOSIS","geneSymbols":["IDS","LMNA","PLCB4","SF3B4","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CEREBRAL_VEIN_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M38117","pmid":"","exactSource":"HP:0012480","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012480","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CEREBRAL_VEIN_MORPHOLOGY","geneSymbols":["ALX4","EDN1","EPHB4","GNAI3","MSX2","PLCB4","RASA1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_ALPHA_GRANULES":{"collection":"C5:HPO","systematicName":"M47213","pmid":"","exactSource":"HP:0012483","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012483","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ALPHA_GRANULES","geneSymbols":["GATA1","GFI1B","IKZF5","NBEAL2","RUNX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_DENSE_GRANULES":{"collection":"C5:HPO","systematicName":"M43437","pmid":"","exactSource":"HP:0012484","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012484","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_DENSE_GRANULES","geneSymbols":["AP3B1","BLOC1S5","HPS3","HPS4","HPS5","IKZF5","LYST","RUNX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PANNICULITIS":{"collection":"C5:HPO","systematicName":"M38118","pmid":"","exactSource":"HP:0012490","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012490","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PANNICULITIS","geneSymbols":["ADA2","ADAR","CASP10","FAS","FASLG","G6PC3","HAVCR2","IFIH1","IKBKG","KIF11","LCK","LSM11","MEFV","MYSM1","OTULIN","PRKCD","PSMB4","PSMB8","PSMB9","PSMG2","RASGRP1","RNASEH2A","RNASEH2B","RNASEH2C","RNU7-1","SAMHD1","TREX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DESCENDING_AORTIC_DISSECTION":{"collection":"C5:HPO","systematicName":"M43438","pmid":"","exactSource":"HP:0012499","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012499","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DESCENDING_AORTIC_DISSECTION","geneSymbols":["ACTA2","COL3A1","ELN","EMILIN1","FBN1","FOXE3","HEY2","LOX","MAT2A","MFAP5","MYH11","MYLK","PRKG1","SMAD2","SMAD3","SMAD4","TGFB2","TGFB3","TGFBR1","TGFBR2","THSD4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_BRAINSTEM_WHITE_MATTER_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M41455","pmid":"","exactSource":"HP:0012501","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012501","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BRAINSTEM_WHITE_MATTER_MORPHOLOGY","geneSymbols":["ABCD1","AHI1","ARL3","CEP290","CLCN3","CSPP1","CYP27A1","FLI1","INPP5E","KIAA0586","LAMA1","LMNB1","NPHP1","SACS","TMEM216","TMEM67"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_PITUITARY_GLAND_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M38119","pmid":"","exactSource":"HP:0012503","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012503","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PITUITARY_GLAND_MORPHOLOGY","geneSymbols":["AAAS","ABCD1","ACP5","ADAT3","ADGRG1","ADNP","AFF4","AIP","AKT1","ALG5","ALG9","ALMS1","ALX3","ANOS1","APC","APOA5","AR","ARMC5","ARNT2","ATRX","B3GLCT","BAP1","BICC1","BMP15","BMP4","BMPR1A","BMPR1B","BNC1","BPTF","BRAF","BRCC3","BTK","C14orf39","CATIP","CBX2","CCDC141","CCDC34","CDC42BPB","CDH23","CDKN1A","CDKN1B","CDKN1C","CDKN2A","CDKN2B","CDKN2C","CDON","CEP57","CFTR","CHD7","CLPP","CNBP","COG2","COQ6","CT55","CTNNB1","CTSK","CYB5A","CYP11A1","CYP17A1","DBH","DCAF17","DCC","DHH","DHX37","DIAPH2","DISP1","DLL1","DMRT3","DMXL2","DNAH10","DNAJB11","DNAJC21","DNHD1","DUSP6","DYRK1A","EDA","EDA2R","EFL1","EIF2S3","EPCAM","ERCC6","ERF","ESCO2","ESR1","ESR2","FAN1","FANCF","FANCI","FANCM","FARSA","FBXO43","FEZF1","FGD1","FGF17","FGF8","FGFR1","FIGLA","FKBP6","FLNB","FLRT3","FMR1","FOXA2","FOXH1","FOXL2","FSHB","FSHR","GAN","GANAB","GAS1","GATA4","GATA6","GCNA","GDF9","GH1","GHRHR","GHSR","GLI2","GLI3","GMNN","GMPPA","GNAS","GNB2","GPR101","GPR161","GRB10","GRM7","HBB","HERC2","HESX1","HFM1","HID1","HPGD","HS6ST1","HSD17B4","HSD3B2","IARS2","IDH1","IDH2","IFNG","IFT140","IGF1","IGF2","IGSF1","IKBKG","IL17RD","KANSL1","KATNIP","KCNJ11","KIAA0753","KISS1R","KLHL10","KMT2A","KRAS","LARS2","LEP","LEPR","LHB","LHCGR","LHX3","LHX4","LZTR1","MADD","MAGEL2","MAP2K2","MAP3K1","MAST3","MCM4","MCM8","MCM9","MED12","MEIOB","MEN1","MKRN3","MLH1","MLH3","MOV10L1","MPDU1","MRPS22","MSH2","MSH4","MSH5","MSH6","MSTO1","MT-ATP8","MT-TL1","MTHFR","NANOS1","NDE1","NDN","NDNF","NF2","NFKB2","NFKBIA","NKX2-1","NODAL","NONO","NPAP1","NR0B1","NR3C1","NR5A1","NSMCE2","NUP107","OCA2","OTX2","PCSK1","PDE11A","PDGFB","PDHA2","PI4KA","PIK3CA","PITX2","PKD1","PKD2","PLCH1","PMM2","PMS1","PMS2","PNLDC1","PNPLA6","POLA1","POLE","POLR3A","POLR3GL","POLR3H","POMC","POR","POU1F1","POU3F4","PPP2R3C","PREPL","PRKAR1A","PRLR","PROK2","PROKR2","PROP1","PSMC3IP","PSMD12","PTCH1","PTDSS1","PUF60","PUS1","PWAR1","PWRN1","RBM28","RFWD3","RNF113A","RNF212","RNPC3","ROBO1","RPL10L","RPS20","RRAS2","RRM2B","SBDS","SEMA3A","SEMA3E","SEMA4A","SHH","SHOC1","SIM1","SIN3A","SIX3","SIX6","SLC29A3","SLC7A7","SLCO2A1","SMARCB1","SMARCE1","SMC1A","SMO","SNORD115-1","SNORD116-1","SNRPN","SOHLH1","SOX10","SOX11","SOX2","SOX3","SOX9","SPAG17","SPIDR","SPRY4","SRD5A3","SRP54","SRPX2","SRY","STAG2","STAG3","STAT5B","STIL","STX16","SUFU","SYCE1","SYCP3","TACR3","TAF4B","TBCE","TBCK","TBX19","TBX2","TBX3","TDGF1","TDRD9","TERB1","TERB2","TERT","TEX11","TEX14","TEX15","TGFBR2","TGIF1","THOC2","TMCO1","TMEM67","TP53","TP63","TRAF7","TRAPPC11","TRHR","TSC1","TSC2","TSHB","TTC26","USP48","USP8","VAMP7","VANGL2","VPS13B","VSX1","WASHC5","WDR11","WDR4","WT1","WWOX","XRCC2","YY1","ZFPM2","ZIC2","ZMYND15","ZNF148","ZNRF3","ZSWIM6","ZSWIM7"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_SIZE_OF_PITUITARY_GLAND":{"collection":"C5:HPO","systematicName":"M38120","pmid":"","exactSource":"HP:0012504","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012504","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SIZE_OF_PITUITARY_GLAND","geneSymbols":["AKT1","BAP1","BRAF","CDH23","COG2","CTNNB1","FGF8","GHSR","GNB2","HS6ST1","KIAA0753","MAGEL2","MAST3","MED12","NDE1","NF2","NFKB2","PDGFB","PIK3CA","RBM28","SIM1","SMARCB1","SMARCE1","SMO","SUFU","TERT","TRAF7","VSX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SMALL_PITUITARY_GLAND":{"collection":"C5:HPO","systematicName":"M38121","pmid":"","exactSource":"HP:0012506","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012506","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SMALL_PITUITARY_GLAND","geneSymbols":["COG2","FGF8","GHSR","GNB2","HS6ST1","KIAA0753","MAGEL2","MAST3","MED12","NDE1","RBM28","SIM1","VSX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_METAMORPHOPSIA":{"collection":"C5:HPO","systematicName":"M38122","pmid":"","exactSource":"HP:0012508","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012508","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_METAMORPHOPSIA","geneSymbols":["ABCC6","ATP1A2","BAP1","BEST1","CACNA1A","CFH","CFI","CRX","CYSLTR2","EFEMP1","ENPP1","GNA11","GNAQ","PRPH2","PRRT2","SCN1A","SF3B1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_EXTRA_AXIAL_CEREBROSPINAL_FLUID_ACCUMULATION":{"collection":"C5:HPO","systematicName":"M43439","pmid":"","exactSource":"HP:0012510","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012510","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EXTRA_AXIAL_CEREBROSPINAL_FLUID_ACCUMULATION","geneSymbols":["BICD2","COPB2","EXOSC2","GRIK2","LMNB1","LMNB2","MADD","NUP214","PPP1R21","STAMBP","TBCK","TET3","TRAPPC12","TSEN15"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_TEMPORAL_OPTIC_DISC_PALLOR":{"collection":"C5:HPO","systematicName":"M38123","pmid":"","exactSource":"HP:0012511","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012511","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TEMPORAL_OPTIC_DISC_PALLOR","geneSymbols":["CYP1B1","DNM1L","EFEMP1","MAG","MYOC","OPA1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DIFFUSE_OPTIC_DISC_PALLOR":{"collection":"C5:HPO","systematicName":"M43440","pmid":"","exactSource":"HP:0012512","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012512","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DIFFUSE_OPTIC_DISC_PALLOR","geneSymbols":["B3GALT6","C1QTNF5","CNGA3","COL18A1","COL4A1","DPAGT1","HGSNAT","KLHL7","MMP19","POMGNT1","SCAPER","TUB","TUBB4B","TULP1","ZNF408"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_UPPER_LIMB_PAIN":{"collection":"C5:HPO","systematicName":"M43441","pmid":"","exactSource":"HP:0012513","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012513","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UPPER_LIMB_PAIN","geneSymbols":["B2M","COMP","FLI1","IDUA","KRT14","KRT5","MAFB","MFN2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LOWER_LIMB_PAIN":{"collection":"C5:HPO","systematicName":"M38124","pmid":"","exactSource":"HP:0012514","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012514","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOWER_LIMB_PAIN","geneSymbols":["ACP5","ALDH18A1","B2M","BSCL2","COL2A1","COL9A1","COL9A2","COL9A3","COMP","ERLIN1","FAR1","GJB2","GJB6","HEPHL1","HTRA1","HYAL1","KRT14","KRT16","KRT17","KRT5","KRT6A","KRT6B","LEMD3","LMX1B","MAFB","MATN3","MFN2","MME","MMP13","MT-ATP6","MT-TK","NAGLU","NLRP12","PRKRA","RASA1","SLCO2A1","SPG7","TGFB1","TONSL","TRAPPC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HIP_FLEXOR_WEAKNESS":{"collection":"C5:HPO","systematicName":"M38125","pmid":"","exactSource":"HP:0012515","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012515","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HIP_FLEXOR_WEAKNESS","geneSymbols":["AGRN","AK9","CHRNA1","CHRNB1","CHRND","CHRNE","COL13A1","DOK7","FLNC","GNE","LRP4","MUSK","MYOT","RAPSN","SCN4A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CIRCLE_OF_WILLIS_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M38126","pmid":"","exactSource":"HP:0012518","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012518","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCLE_OF_WILLIS_MORPHOLOGY","geneSymbols":["ANGPTL6","COL3A1","ENG","HES7","TGFBR3","THSD1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DILATION_OF_VIRCHOW_ROBIN_SPACES":{"collection":"C5:HPO","systematicName":"M38127","pmid":"","exactSource":"HP:0012520","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012520","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DILATION_OF_VIRCHOW_ROBIN_SPACES","geneSymbols":["ALG2","ASXL2","CLCN3","COL4A1","DCX","H3-3A","H4C9","HTRA1","KMT5B","NGLY1","ODC1","PAFAH1B1","PLXNA1","PTEN","RIN2","RPL10","SIAH1","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SPIDER_HEMANGIOMA":{"collection":"C5:HPO","systematicName":"M43442","pmid":"","exactSource":"HP:0012522","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012522","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPIDER_HEMANGIOMA","geneSymbols":["GPR35","MST1","SEMA4D","SLC37A4","TCF4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ORAL_AVERSION":{"collection":"C5:HPO","systematicName":"M43443","pmid":"","exactSource":"HP:0012523","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012523","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ORAL_AVERSION","geneSymbols":["ACAT1","ARID1A","ARID1B","ARID2","DPF2","GRB10","MEIS2","PACS1","SLC7A7","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SOX11","SOX4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_NUMBER_OF_DENSE_GRANULES":{"collection":"C5:HPO","systematicName":"M46234","pmid":"","exactSource":"HP:0012530","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012530","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_NUMBER_OF_DENSE_GRANULES","geneSymbols":["AP3B1","BLOC1S5","HPS3","HPS4","HPS5","IKZF5"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PAIN":{"collection":"C5:HPO","systematicName":"M38128","pmid":"","exactSource":"HP:0012531","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012531","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PAIN","geneSymbols":["AAGAB","ABCA1","ABCB11","ABCB4","ABCC2","ABCC6","ABCC9","ABCD1","ABCG5","ABCG8","ACAD9","ACADM","ACADVL","ACP5","ACTA2","ACTC1","ACTG2","ACTN4","ADA2","ADAMTS19","AGBL1","AGXT","AIP","AKT1","ALAD","ALDH18A1","ALDH4A1","ALDOA","ALDOB","ALG5","ALG9","ALMS1","AMPD1","AMPD3","ANG","ANK1","ANKFY1","ANKH","ANKRD55","ANLN","ANO5","ANTXR2","ANXA11","AP1S3","AP2S1","APC","APOB","APOL1","APRT","ARHGAP24","ARHGDIA","ARSB","ARVCF","ASAH1","ASPN","ASXL1","ATL1","ATL3","ATP2A1","ATP7A","ATP7B","ATP8B1","ATRX","ATXN2","ATXN3","B2M","BAP1","BAZ1B","BCL10","BCL11A","BCL7B","BCOR","BICC1","BIN1","BIRC3","BMP2","BMP6","BMPR1A","BRCA1","BRCA2","BSCL2","BTNL2","BUD23","BVES","C1QB","C1R","C1S","C4A","CALR","CAPN3","CARD8","CARS2","CASK","CASQ1","CASR","CAT","CAV1","CAV3","CAVIN1","CBL","CCDC78","CCN2","CCN6","CCND1","CCNF","CCR1","CCR6","CD19","CD244","CD247","CD2AP","CD46","CD55","CD81","CDC73","CDH2","CDKN1A","CDKN1B","CDKN2A","CDKN2B","CDKN2C","CEBPE","CEL","CFAP410","CFH","CFI","CFTR","CHCHD10","CHEK2","CHMP2B","CHST11","CHST3","CHST6","CIITA","CLCN1","CLCN5","CLCN7","CLCNKB","CLDN16","CLIP2","CLPB","CNBP","COL10A1","COL11A1","COL11A2","COL14A1","COL17A1","COL1A1","COL2A1","COL3A1","COL4A3","COL4A5","COL4A6","COL5A1","COL5A2","COL7A1","COL8A2","COL9A1","COL9A2","COL9A3","COMP","COMT","COPA","COQ6","COQ7","COQ8B","CORIN","COX6B1","CPA1","CPOX","CPT2","CR2","CRB2","CRLF1","CRPPA","CTLA4","CTNNB1","CTNS","CTRC","CTSK","CYP19A1","CYP27B1","CYP2R1","CYSLTR2","DAAM2","DAO","DAXX","DBH","DCC","DCTN1","DDB2","DDIT3","DDRGK1","DEPDC5","DGAT1","DGUOK","DIS3L2","DKK1","DLEC1","DLL3","DLST","DMD","DMP1","DMPK","DNA2","DNAJB11","DNAJB6","DNAJC30","DNAL4","DNASE1L3","DNM1L","DNM2","DNMT3A","DPM3","DSE","DSG2","DYSF","ECE1","EDN3","EDNRB","EHHADH","EIF4H","ELANE","ELF4","ELN","EMD","EMP2","ENG","ENO3","ENPP1","EPAS1","EPB41","EPB42","EPCAM","EPHA4","EPOR","ERAP1","ERBB2","ERBB3","ERBB4","ERCC2","ERCC3","ERCC4","ERCC5","ERLIN1","ESR1","EWSR1","EXT1","EXT2","F12","F5","F8","FAN1","FAR1","FAS","FBN1","FDX2","FERMT3","FGF13","FGF23","FH","FHL1","FIG4","FIP1L1","FKBP6","FKRP","FKTN","FLI1","FLNC","FLT1","FLVCR1","FMR1","FN1","FOXE1","FOXE3","FOXP1","FSHR","FTL","FUS","G6PD","GANAB","GAPVD1","GATA4","GATA5","GATA6","GATM","GBA1","GCGR","GDNF","GFI1","GHSR","GJA5","GJB2","GJB6","GLA","GLE1","GLT8D1","GNA11","GNA14","GNAQ","GNAS","GNB2","GNE","GNPTG","GOSR2","GP1BB","GPC3","GPR101","GPR35","GRHL2","GTF2I","GTF2IRD1","GTF2IRD2","GUCY2C","GYPC","H19","HABP2","HADHA","HADHB","HARS1","HBB","HBG1","HBG2","HELLPAR","HEPHL1","HEXB","HEY2","HFE","HGD","HIRA","HLA-B","HLA-DPA1","HLA-DPB1","HLA-DQA1","HLA-DQB1","HLA-DRB1","HMBS","HNRNPA1","HNRNPA2B1","HOGA1","HPDL","HPGD","HPS1","HS3ST6","HSPG2","HTRA1","HYAL1","ICOS","IDH1","IDH2","IDUA","IFNGR1","IFT140","IGHG2","IGKC","IKZF1","IL10","IL12A","IL12A-AS1","IL12B","IL1R1","IL1RN","IL23R","IL2RA","IL2RB","IL36RN","IL6","INF2","IRAK1","IRF2BP2","IRF4","IRF5","JAK2","JMJD1C","KCNA5","KCNE1","KCNE2","KCNJ2","KCNJ3","KCNJ5","KCNN4","KCNQ1","KIF1B","KIF7","KIT","KLF1","KLRC4","KRAS","KRT14","KRT16","KRT17","KRT5","KRT6A","KRT6B","KY","LACC1","LBR","LDHA","LDLR","LDLRAP1","LEMD3","LIG3","LIMK1","LMNA","LMNB1","LMNB2","LMX1B","LOX","LPIN1","LPIN2","LPL","LRP1","LRP5","LZTR1","MAFB","MAGI2","MALT1","MAT2A","MATN3","MATR3","MAX","MC2R","MCM6","MDH2","MDM4","MED12","MEF2A","MEFV","MEN1","MESP2","MET","METTL27","MFAP5","MFN2","MIEF2","MIF","MINPP1","MITF","MLH1","MLH3","MLIP","MLX","MLXIPL","MLYCD","MME","MMP1","MMP13","MMP2","MMUT","MOCOS","MPL","MRAP","MRPS2","MS4A1","MSH2","MSH6","MSMO1","MST1","MSTO1","MT-ATP6","MT-CO1","MT-CO3","MT-TE","MT-TK","MT-TL1","MTMR14","MTTP","MVK","MYBPC3","MYC","MYF6","MYH11","MYH3","MYH7","MYL2","MYL4","MYLK","MYO1E","MYOT","NAB2","NABP1","NAGLU","NCF1","NCF4","NDUFAF6","NEFH","NEK1","NF1","NF2","NFKB1","NFKB2","NFKBIL1","NGF","NGLY1","NKX2-5","NKX2-6","NKX3-2","NLRC4","NLRP12","NLRP3","NNT","NOD2","NOS1","NOTCH2","NPHS1","NPHS2","NPM1","NPPA","NPRL2","NPRL3","NR1H4","NRTN","NTN1","NTRK1","NUMA1","NUP107","NUP133","NUP155","NUP160","NUP205","NUP37","NUP85","NUP93","OBSCN","OPA1","OPA3","OPLAH","OPTN","ORAI1","OTC","OTULIN","OVOL2","P4HA2","PALB2","PALLD","PAX2","PCSK9","PDGFB","PDGFRA","PFKM","PFN1","PGAM2","PGK1","PHEX","PHKA1","PHKA2","PHKB","PHKG2","PIEZO1","PIGA","PIGT","PIGY","PIK3CA","PIK3CG","PITX2","PKD1","PKD2","PKDCC","PKHD1","PLCE1","PLCG2","PLEKHM1","PLN","PML","PMP22","PMS1","PMS2","PNPLA2","PNPT1","POLE","POLG","POLG2","POLR3A","POLR3GL","POMP","POMT1","PON1","PON2","PON3","PORCN","POU6F2","PPA2","PPARG","PPARGC1A","PPOX","PRDM5","PRKAG2","PRKAR1A","PRKCD","PRKCSH","PRKG1","PRKRA","PRNP","PRORP","PRPH","PRSS1","PRSS2","PRTN3","PSAP","PSMB4","PSMB8","PSMB9","PSTPIP1","PTEN","PTH1R","PTPN11","PTPN2","PTPN22","PTPN3","PTPRO","PYGM","RABL3","RAD21","RAD51","RARA","RASA1","RB1","RBCK1","REEP2","RELA","REST","RET","RFC2","RIPK1","RNASEH1","RNF168","RNF6","RNU4ATAC","RPS20","RREB1","RRM2B","RUNX1","RYR1","SAA1","SAT1","SCARB2","SCN11A","SCN1B","SCN2B","SCN3B","SCN4A","SCN4B","SCN5A","SCN9A","SCNN1A","SCNN1B","SCNN1G","SDHA","SDHAF2","SDHB","SDHC","SDHD","SEC24C","SEC63","SEMA3C","SEMA3D","SEMA4A","SEMA4D","SEPTIN9","SERPINF2","SERPING1","SF3B1","SFRP4","SH2B3","SH3TC2","SI","SLC12A3","SLC22A12","SLC22A4","SLC25A11","SLC25A26","SLC25A4","SLC25A42","SLC26A1","SLC26A2","SLC2A9","SLC34A1","SLC34A2","SLC34A3","SLC39A14","SLC40A1","SLC4A1","SLC4A11","SLCO2A1","SMAD2","SMAD3","SMAD4","SMARCB1","SMARCE1","SMO","SMPD1","SNX10","SOD1","SOST","SOX10","SPAST","SPG7","SPINK1","SPP1","SPTA1","SPTB","SPTBN1","SPTLC1","SPTLC2","SQSTM1","SREBF1","SRP19","SRP54","SRSF2","STAR","STAT3","STAT4","STAT5B","STAT6","STIM1","STING1","STK11","STOX1","STX16","STX1A","SUFU","SVIL","SYK","SYNE1","SYNE2","TACSTD2","TAF15","TARDBP","TBC1D8B","TBK1","TBL1XR1","TBL2","TBX1","TBX18","TBX6","TCF4","TCIRG1","TEK","TERT","TET2","TGFB1","TGFB2","TGFB3","TGFBI","TGFBR1","TGFBR2","THPO","THSD4","TK2","TLR4","TLR7","TMEM126B","TMEM127","TMEM270","TMEM43","TNFRSF11A","TNFRSF11B","TNFRSF13B","TNFRSF13C","TNFRSF1A","TNFSF11","TNFSF12","TNNC1","TNXB","TONSL","TP53","TRAF7","TRAPPC11","TRAPPC2","TREH","TREM2","TREX1","TRIM28","TRIM32","TRIP13","TRPA1","TRPC6","TRPM4","TRPS1","TRPV4","TSC1","TSC2","TTN","TWNK","TXNRD2","TYMP","TYROBP","UBA1","UBAC2","UBQLN2","UFD1","UFSP2","UNC13A","UNC45A","UQCRH","VANGL1","VAPB","VCP","VDR","VHL","VPS37D","VSX1","VWA1","WAS","WASHC5","WIPF1","WNT1","WNT3A","WRN","WT1","WWOX","XPA","XPC","ZBTB16","ZEB1","ZFTA","ZMPSTE24","ZNF469","ZNF687","ZNRF3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CHRONIC_PAIN":{"collection":"C5:HPO","systematicName":"M41456","pmid":"","exactSource":"HP:0012532","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012532","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHRONIC_PAIN","geneSymbols":["ATXN3","COL7A1","CTSK","FLVCR1","MMP1","TGFB2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DYSESTHESIA":{"collection":"C5:HPO","systematicName":"M38129","pmid":"","exactSource":"HP:0012534","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012534","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DYSESTHESIA","geneSymbols":["ABCD1","ALDH4A1","CHST14","DKK1","DSE","FMR1","GABRG2","GRIN2A","NKX6-2","NLRP3","PEX16","PMP22","PRNP","RELA","SCN10A","SDHA","SPTLC2","SRPX2","ZFTA"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FOOD_INTOLERANCE":{"collection":"C5:HPO","systematicName":"M38130","pmid":"","exactSource":"HP:0012537","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012537","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOOD_INTOLERANCE","geneSymbols":["ALG3","ASXL1","CLMP","COG8","ELN","GALT","MLXIPL","SRCAP","UNC45A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NON_HODGKIN_LYMPHOMA":{"collection":"C5:HPO","systematicName":"M38131","pmid":"","exactSource":"HP:0012539","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012539","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NON_HODGKIN_LYMPHOMA","geneSymbols":["ADA","ATM","BCL10","BIRC3","CASP10","CCND1","CD28","CDKN2A","CHEK2","CTLA4","FAS","FASLG","FCHO1","FOXP1","HAVCR2","IKZF3","ITK","MAGT1","MALT1","MDM2","MLH1","MSH6","MYC","NBN","NFATC2","NTHL1","PIK3R1","PMS2","POLE","PRKCD","PTPRC","RASGRP1","RHOH","SH2D1A","SMARCAL1","SYK","TNFRSF1B","TP53","TTC7A","XIAP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CEPHALOHEMATOMA":{"collection":"C5:HPO","systematicName":"M38132","pmid":"","exactSource":"HP:0012541","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012541","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CEPHALOHEMATOMA","geneSymbols":["CD109","CDC42BPB","F2","F8","GP1BA","GP1BB","ITGA2","ITGA2B","ITGB3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ELEVATED_CIRCULATING_ALDOLASE_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M45453","pmid":"","exactSource":"HP:0012544","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012544","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELEVATED_CIRCULATING_ALDOLASE_CONCENTRATION","geneSymbols":["HSPG2","LPIN1","MT-CO1","MT-CO3","OBSCN","PFKM","TGFB1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_INVOLUNTARY_EYE_MOVEMENTS":{"collection":"C5:HPO","systematicName":"M38133","pmid":"","exactSource":"HP:0012547","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012547","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_INVOLUNTARY_EYE_MOVEMENTS","geneSymbols":["AARS1","AARS2","ABCA4","ABCB7","ABCC9","ABHD12","ABHD5","ACBD5","ACO2","ACOX1","ACTL6B","ADAMTSL4","ADAR","ADD3","ADGRG1","ADGRV1","ADORA2A","ADPRS","ADSL","AFF3","AFG3L2","AGBL5","AGK","AGRN","AGTPBP1","AHDC1","AHI1","AHR","AIFM1","AIMP1","AIPL1","ALDH18A1","ALG1","ALG13","ALG2","ALG3","ALG8","ALMS1","ALS2","ALX4","ANK1","ANKRD11","ANO10","ANOS1","ANTXR1","AP3B1","AP3B2","AP3D1","AP4E1","APC","APC2","APTX","ARHGEF18","ARHGEF2","ARID1B","ARL13B","ARL2BP","ARL3","ARL6","ARMC9","ARNT2","ARV1","ARX","ASAH1","ASH1L","ASPA","ATAD3A","ATCAY","ATF6","ATG5","ATM","ATN1","ATOH7","ATP13A2","ATP1A2","ATP1A3","ATP2B3","ATP5F1A","ATP5F1D","ATP5F1E","ATP5MK","ATP6V1A","ATP6V1B2","ATP6V1E1","ATPAF1","ATPAF2","ATXN1","ATXN10","ATXN2","ATXN3","ATXN7","ATXN8OS","B3GLCT","B4GALNT1","B9D1","B9D2","BAZ1B","BBIP1","BBS1","BBS10","BBS12","BBS2","BBS4","BBS5","BBS7","BBS9","BCAS3","BCL7B","BCOR","BDNF","BEAN1","BEST1","BLOC1S3","BLOC1S5","BLOC1S6","BMP4","BRAF","BRAT1","BRCA1","BRCA2","BRD4","BRIP1","BUB1B","BUD23","CA4","CABP4","CACNA1A","CACNA1B","CACNA1E","CACNA1F","CACNA1G","CACNA1H","CACNA2D1","CACNA2D2","CACNA2D4","CACNB4","CAMK2B","CAMTA1","CAPN1","CARS1","CASK","CASZ1","CAV1","CBL","CBY1","CC2D2A","CCDC141","CCDC28B","CDH3","CDHR1","CDK19","CELF2","CENPE","CEP104","CEP120","CEP164","CEP19","CEP290","CEP41","CEP78","CERKL","CERS1","CFAP410","CFAP418","CHAT","CHD7","CHD8","CHKA","CHN1","CISD2","CLCN3","CLCN6","CLCN7","CLDN11","CLDN16","CLDN19","CLIP2","CLN3","CLN5","CLP1","CLPB","CLRN1","CLTC","CLTCL1","CLTRN","CNGA1","CNGA3","CNGB1","CNGB3","CNKSR2","CNNM4","CNOT3","CNTNAP2","COG4","COL11A1","COL13A1","COL18A1","COL25A1","COQ2","COQ5","COX10","COX15","CP","CPLANE1","CPLX1","CPSF3","CRB1","CREBBP","CRIPT","CRLS1","CRX","CRYAA","CRYBA4","CRYBB1","CRYBB2","CRYGC","CRYGD","CSF1R","CSPP1","CTBP1","CTDP1","CTNNB1","CWF19L1","CYFIP2","CYP1B1","CYP27A1","CYP7B1","DAB1","DALRD3","DARS1","DARS2","DCC","DCT","DCX","DDB1","DEGS1","DGUOK","DHCR24","DHCR7","DHDDS","DHX37","DHX38","DKK1","DLAT","DNAJC12","DNAJC30","DNM1","DNM1L","DNMBP","DNMT1","DOHH","DOLK","DPAGT1","DPM1","DPP6","DPYD","DTNBP1","DUSP6","EBP","ECHS1","EDNRB","EEF1A2","EEF2","EFNB1","EGR2","EIF2S3","EIF3F","EIF4H","ELN","ELOVL1","ELOVL4","ELOVL5","EMC10","EP300","EPG5","EPRS1","ERCC1","ERCC2","ERCC3","ERCC4","ERCC5","ERCC6","ERCC8","ERLIN2","ERMARD","ESCO2","EXOSC2","EXOSC3","EXOSC5","EXOSC8","EXOSC9","EXT2","EXTL3","EYS","FA2H","FAM149B1","FAM161A","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FAR1","FASTKD2","FAT2","FBN1","FBXL4","FBXO28","FCSK","FDX2","FDXR","FEZF1","FGF12","FGF13","FGF14","FGF17","FGF8","FGFR1","FGFRL1","FKBP6","FLRT1","FLRT3","FMR1","FOCAD","FOXC1","FOXE3","FOXG1","FOXL2","FOXP1","FOXRED1","FRMD5","FRMD7","FRMPD4","FRRS1L","FSCN2","FUS","FXN","FZR1","GABBR2","GABRA1","GABRA2","GABRA3","GABRA5","GABRB2","GABRB3","GABRD","GABRG2","GALC","GALNT2","GAN","GATA1","GATA3","GBA1","GBA2","GCH1","GDAP2","GDF3","GDF6","GFAP","GFER","GFM1","GJA1","GJA8","GJB1","GJC2","GLRX5","GM2A","GMPPA","GMPPB","GNAS","GNAT1","GNAT2","GNB1","GNB3","GNB5","GOSR2","GPAA1","GPR143","GPR179","GRIA4","GRID2","GRIK2","GRIN2A","GRIN2D","GRK1","GRM1","GRM6","GTF2E2","GTF2H5","GTF2I","GTF2IRD1","GTF2IRD2","GUCA1B","GUCY2D","H3-3A","HARS1","HCN1","HDAC8","HECW2","HESX1","HGSNAT","HIBCH","HID1","HIKESHI","HK1","HLA-B","HLA-DRB1","HMGB3","HMX1","HNRNPH1","HNRNPR","HPDL","HPS1","HPS3","HPS4","HPS5","HPS6","HS6ST1","HSD17B10","HSD17B4","HSPD1","HSPG2","HTRA1","HTT","HUWE1","HYLS1","IARS2","IBA57","IDH1","IDH3A","IDH3B","IFIH1","IFRD1","IFT122","IFT140","IFT172","IFT27","IFT43","IFT52","IFT74","IFT88","IGBP1","IL17RD","IMPDH1","IMPDH2","IMPG1","IMPG2","INPP5E","INPP5K","IPO8","IQCB1","IQSEC2","IRF2BPL","ISCA2","ITPR1","JAM2","JRK","KANK1","KARS1","KATNIP","KCNA2","KCNAB2","KCNB1","KCNC3","KCND3","KCNH1","KCNJ13","KCNK4","KCNMA1","KCNN2","KCNV2","KDM6A","KIAA0586","KIAA0753","KIAA1549","KIDINS220","KIF11","KIF1A","KIF1B","KIF1C","KIF21A","KIF2A","KIF5A","KIF7","KIZ","KLC2","KLHL7","KMT2B","KMT2D","KRAS","KRT10","KRT14","KRT5","L1CAM","L2HGDH","LAGE3","LAMA1","LAMB2","LARGE1","LCA5","LETM1","LIG4","LIM2","LIMK1","LMBRD2","LMNB1","LONP1","LRAT","LRIT3","LRMDA","LRP4","LRP5","LRPPRC","LSM11","LUZP1","LYRM7","LYST","LZTFL1","LZTR1","MAB21L1","MAB21L2","MAD1L1","MAD2L2","MAF","MAFB","MAG","MAK","MAN2B1","MAP2K1","MAP2K2","MAPK8IP3","MAPKAPK5","MARS2","MBTPS2","MC1R","MCOLN1","MECR","MED11","MED12","MERTK","METTL27","MICOS13","MINPP1","MKKS","MKS1","MLXIPL","MMACHC","MMADHC","MME","MMP23B","MN1","MOCS1","MOCS2","MPC1","MPDU1","MPDZ","MPLKIP","MPV17","MPZ","MRAS","MRE11","MRPL12","MRPS34","MT-ATP6","MT-ATP8","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND5","MT-ND6","MT-TK","MT-TL1","MT-TV","MT-TW","MTFMT","MTHFR","MTPAP","MTR","MTRFR","MTRR","MTSS2","MVK","MYO5A","MYO7A","MYO9A","NAA10","NADK2","NAGA","NAGLU","NALCN","NANS","NARS2","NAXE","NCAPG2","NCF1","NDNF","NDP","NDST1","NDUFA1","NDUFA11","NDUFA6","NDUFAF1","NDUFAF2","NDUFAF3","NDUFAF4","NDUFAF5","NDUFAF8","NDUFB10","NDUFB11","NDUFB3","NDUFB9","NDUFS1","NDUFS2","NDUFS3","NDUFS4","NDUFS6","NDUFS7","NDUFS8","NDUFV1","NDUFV2","NECAP1","NEDD4L","NEFL","NEK2","NELFA","NEU1","NFIX","NHS","NIPBL","NKX6-2","NMNAT1","NOP56","NOTCH2NLC","NPHP1","NPHP4","NPTX1","NR2E3","NR2F1","NR4A2","NRAS","NRL","NSD1","NSD2","NSUN2","NSUN3","NT5C2","NTNG2","NTRK2","NUBPL","NUP54","NUP62","NUS1","NYX","OCA2","OCLN","OCRL","OFD1","OGDHL","OGT","OPA1","OPA3","OPHN1","OPN1LW","OPN1MW","OPN1SW","OSGEP","OSTM1","OTUD5","OTX2","OXR1","P4HA2","P4HTM","PACS1","PACS2","PAK2","PALB2","PANK4","PARS2","PAX2","PAX6","PAX7","PBX1","PCARE","PCYT1A","PCYT2","PDE6A","PDE6B","PDE6C","PDE6D","PDE6G","PDE6H","PDGFRB","PDP1","PDPN","PDZD7","PET100","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PEX7","PGAP1","PHF21A","PHF6","PHGDH","PHIP","PHOX2A","PHYH","PI4KA","PIBF1","PIGG","PIGL","PIGN","PIGQ","PIGS","PIGT","PIGU","PIK3R5","PITX2","PLA2G6","PLAA","PLD3","PLEKHG2","PLK4","PLP1","PLXNA1","PMM2","PMP22","PMPCA","PNPLA6","PNPO","PNPT1","POC1B","POGZ","POLG","POLR3A","POLR3B","POLR3K","POMGNT1","PORCN","POU3F4","POU4F1","PPFIBP1","PPP1CB","PPP1R21","PPP2R5D","PPP3CA","PRCD","PRDM13","PRDM16","PRDX1","PRDX3","PRKCG","PRKCZ","PRKD1","PRNP","PROK2","PROKR2","PROM1","PRPF3","PRPF31","PRPF4","PRPF6","PRPF8","PRPH2","PRPS1","PRR12","PRRT2","PRSS12","PRX","PSAP","PSAT1","PSMD12","PTCD3","PTPN11","PTPN22","PURA","PUS3","PYCR2","RAB11B","RAB18","RAD21","RAD51","RAD51C","RAF1","RARS1","RASA2","RBL2","RBP3","RD3","RDH12","RECQL4","REEP6","REPS1","RERE","RFC1","RFC2","RFWD3","RFX7","RGR","RHO","RHOA","RIMS2","RIPOR2","RIT1","RLBP1","RNASEH2A","RNASEH2B","RNASEH2C","RNASET2","RNF113A","RNF216","RNU12","RNU4ATAC","RNU7-1","ROBO1","ROBO3","ROM1","RORA","RP1","RP1L1","RP2","RP9","RPE65","RPGR","RPGRIP1","RPGRIP1L","RPIA","RRAS","RRAS2","RTN4IP1","RUBCN","SACS","SAG","SALL2","SALL4","SAMD9L","SAMHD1","SCAPER","SCLT1","SCN1A","SCN2A","SCN3A","SCN8A","SCO2","SCUBE3","SDCCAG8","SDHA","SDHAF1","SDHB","SDHD","SEMA3A","SEMA3E","SEMA4A","SERPINI1","SETD2","SETX","SH3TC2","SIGMAR1","SIL1","SIN3A","SIX6","SKI","SLC12A6","SLC13A5","SLC16A2","SLC17A5","SLC18A3","SLC19A2","SLC19A3","SLC1A2","SLC1A3","SLC24A1","SLC24A5","SLC25A1","SLC25A20","SLC25A24","SLC25A4","SLC25A46","SLC29A3","SLC2A1","SLC33A1","SLC35A1","SLC35A2","SLC35B2","SLC38A3","SLC38A8","SLC39A8","SLC45A2","SLC4A11","SLC52A2","SLC5A6","SLC5A7","SLC6A19","SLC6A3","SLC6A6","SLC7A14","SLC9A1","SLC9A6","SLX4","SMC1A","SMC3","SMPD1","SNAP25","SNIP1","SNRNP200","SNRPN","SNX10","SNX14","SON","SOS1","SOS2","SOST","SOX10","SOX2","SOX3","SPART","SPAST","SPATA5","SPATA7","SPEN","SPG11","SPG7","SPRED2","SPRY4","SPTBN2","SPTBN4","SPTLC1","SQSTM1","SRD5A3","SREBF1","SRPX2","SRY","STUB1","STX16","STX1A","STX3","SUFU","SUPT16H","SURF1","SYNE1","SYNGAP1","SYNJ1","SYT1","SYT14","SYT2","SZT2","TACR3","TAF1","TAF2","TANGO2","TAOK1","TARS1","TAT","TBC1D24","TBCD","TBCK","TBL1XR1","TBL2","TBP","TCEAL1","TCIRG1","TCTN1","TCTN2","TCTN3","TDP1","TELO2","TENM3","TET3","TFAP2A","TGM6","THG1L","THOC2","TIMMDC1","TINF2","TKFC","TMEM106B","TMEM126A","TMEM126B","TMEM138","TMEM163","TMEM216","TMEM218","TMEM231","TMEM237","TMEM240","TMEM270","TMEM63A","TMEM63C","TMEM67","TNFRSF11A","TNFSF11","TOE1","TOGARAM1","TONSL","TOPORS","TPK1","TPP1","TRAF3IP1","TRAK1","TRAPPC6B","TREX1","TRIM32","TRIM44","TRIP13","TRPM1","TRPV6","TSPAN7","TTBK2","TTC19","TTC8","TTPA","TTR","TUB","TUBA1A","TUBB2B","TUBB3","TUBB4A","TUBB4B","TUBGCP4","TUBGCP6","TUFM","TULP1","TWNK","TYR","TYRP1","UBA5","UBAP1","UBE2T","UBE3A","UBE3B","UBE4B","UCHL1","UGP2","UNC80","UROC1","USH1C","USH2A","USP45","USP7","USP8","VAMP1","VLDLR","VPS13B","VPS13D","VPS33A","VPS37D","VPS41","VRK1","VWA3B","WARS2","WDPCP","WDR11","WDR19","WDR35","WDR45","WDR48","WDR73","WFS1","WHRN","WT1","WWOX","XRCC1","XRCC2","XRCC4","XYLT2","YAP1","YARS1","YARS2","YWHAG","ZFYVE26","ZNF292","ZNF408","ZNF423","ZNF513","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FATTY_REPLACEMENT_OF_SKELETAL_MUSCLE":{"collection":"C5:HPO","systematicName":"M38134","pmid":"","exactSource":"HP:0012548","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012548","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FATTY_REPLACEMENT_OF_SKELETAL_MUSCLE","geneSymbols":["ANO5","ANXA11","CACNA1S","CAPN3","CFL2","CRPPA","DNAJB6","FKRP","FKTN","FLAD1","FLNC","FXR1","GIPC1","GNE","HNRNPA1","HNRNPA2B1","ITGA7","LMOD3","MEGF10","MYH14","MYOT","NEB","PMP2","PNPLA2","POGLUT1","POMT1","POPDC3","RILPL1","SECISBP2","SMPX","STAC3","TNNC2","TTN","VCP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABSENT_THUMBNAIL":{"collection":"C5:HPO","systematicName":"M38135","pmid":"","exactSource":"HP:0012554","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012554","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_THUMBNAIL","geneSymbols":["ARX","ATP6V1B2","CASK","CDKL5","DMXL2","GNAO1","GRIN1","GRM7","KCNA1","KCNH1","NEUROD2","PIGP","PIGQ","PNKP","SCN1B","SCN2A","SIK1","SLC25A22","SLC32A1","TRIM8"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DELAYED_MENARCHE":{"collection":"C5:HPO","systematicName":"M38136","pmid":"","exactSource":"HP:0012569","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012569","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DELAYED_MENARCHE","geneSymbols":["ALMS1","DNM1L","FSHB","GHR","LMNA","PEX10","PTPN11","SLC25A13","STUB1","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_NEPHRON_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M38137","pmid":"","exactSource":"HP:0012575","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012575","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_NEPHRON_MORPHOLOGY","geneSymbols":["ACE","ACP5","ACSL4","ACTN4","ADA","AGT","AGTR1","ALMS1","AMMECR1","ANKFY1","ANLN","ANTXR1","APOE","APOL1","ARHGAP24","ARHGDIA","AVIL","BANK1","BAZ1B","BCL7B","BCS1L","BLK","BSND","BTNL2","BUD23","C1QA","C3","C4A","C4B","CASP10","CCR1","CD151","CD2AP","CD81","CEP83","CFH","CFHR5","CFI","CLCN5","CLCNKB","CLIP2","COL4A3","COL4A4","COL4A5","COL7A1","COPA","COQ2","COQ6","COQ8B","CPT2","CR2","CRB2","CTLA4","CTNS","DAAM2","DCDC2","DGKE","DLST","DNAJC30","DNASE1","DNASE1L3","DNASE2","DNMT3A","DPH1","DPH2","EIF4H","ELN","ELP1","EMP2","EPAS1","ERAP1","ETS1","FAH","FAN1","FAS","FASLG","FCGR2A","FCGR2B","FCGR3B","FH","FKBP6","FN1","FOXC2","FOXP3","G6PC1","GAPVD1","GATA3","GBE1","GLA","GLIS2","GON7","GTF2I","GTF2IRD1","GTF2IRD2","HLA-B","HLA-DPA1","HLA-DPB1","HLA-DRB1","HNF1B","IFNGR1","IFT122","IGHG1","IL10","IL12A","IL12A-AS1","IL23R","INF2","INVS","IRAK1","IRF5","ITGA3","ITGAM","ITGB4","JAG1","JAK1","JAZF1","KANK2","KCNE5","KCNJ1","KIAA0319L","KIF1B","KIRREL1","KLRC4","LAGE3","LAMA3","LAMA5","LAMB2","LAMB3","LAMC2","LIMK1","LMNA","LMNB2","LMX1B","LPIN2","MAGI2","MAX","MDH2","MECP2","MEFV","METTL27","MLXIPL","MMACHC","MME","MMP1","MMUT","MRPL3","MRPS22","MT-ATP6","MT-CO1","MT-CO2","MT-CO3","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND5","MT-ND6","MT-TE","MT-TF","MT-TH","MT-TK","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TV","MT-TW","MTRR","MTX2","MUC1","MYO1E","MYOCD","NAA10","NARS2","NCF1","NDUFAF6","NF1","NOS1AP","NPHP1","NPHP3","NPHP4","NPHS1","NPHS2","NUP107","NUP133","NUP160","NUP205","NUP37","NUP85","NUP93","OCRL","OSGEP","PAX2","PBX1","PDCD1","PGM3","PKHD1","PLCE1","PLEC","PMM2","PRKCD","PRTN3","PTPN22","PTPRO","PUS3","PXK","RASGRP1","REN","RET","RFC2","RNU7-1","RPGRIP1L","SCARB2","SDHA","SDHAF2","SDHB","SDHC","SDHD","SEC61A1","SGPL1","SHPK","SLC12A1","SLC12A3","SLC22A12","SLC25A11","SLC2A9","SLC30A9","SLC37A4","SLC41A1","SLC7A7","SMARCAL1","SOCS1","SOX18","SPP1","SPRY2","STAT4","STX1A","TBC1D8B","TBL2","TLR4","TLR7","TMEM127","TMEM270","TMEM67","TNFAIP3","TNFSF4","TNIP1","TP53RK","TPRKB","TRAF3IP1","TREX1","TRIM8","TRPC6","TULP3","UBAC2","UBE2L3","UMOD","VHL","VPS33A","VPS33B","VPS37D","WAS","WDR19","WDR4","WDR73","WIPF1","WT1","XPNPEP3","YRDC","ZAP70","ZNFX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MINIMAL_CHANGE_GLOMERULONEPHRITIS":{"collection":"C5:HPO","systematicName":"M38138","pmid":"","exactSource":"HP:0012579","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012579","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MINIMAL_CHANGE_GLOMERULONEPHRITIS","geneSymbols":["ACTN4","ANKFY1","ANLN","APOL1","ARHGAP24","ARHGDIA","CD2AP","COL4A3","COQ8B","CRB2","DAAM2","EMP2","GAPVD1","INF2","KANK2","KIRREL1","LAGE3","LMX1B","MAGI2","MYO1E","NPHS1","NPHS2","NUP107","NUP133","NUP160","NUP205","NUP37","NUP85","NUP93","PAX2","PLCE1","PTPRO","SMARCAL1","TBC1D8B","TRPC6","WT1","ZAP70"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_UNILATERAL_RENAL_HYPOPLASIA":{"collection":"C5:HPO","systematicName":"M47214","pmid":"","exactSource":"HP:0012583","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012583","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UNILATERAL_RENAL_HYPOPLASIA","geneSymbols":["C2CD3","H4C5","HRAS","MCM5","PLXNA1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RENAL_ATROPHY":{"collection":"C5:HPO","systematicName":"M45454","pmid":"","exactSource":"HP:0012585","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012585","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RENAL_ATROPHY","geneSymbols":["ALG5","DCDC2","MAFB","MUC1","PAX7","TMEM67","ZMIZ1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MACROSCOPIC_HEMATURIA":{"collection":"C5:HPO","systematicName":"M38139","pmid":"","exactSource":"HP:0012587","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012587","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MACROSCOPIC_HEMATURIA","geneSymbols":["APRT","CD81","F8","GP1BA","GP1BB","GP9","HPRT1","ITGA2B","ITGB3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_STEROID_RESISTANT_NEPHROTIC_SYNDROME":{"collection":"C5:HPO","systematicName":"M38140","pmid":"","exactSource":"HP:0012588","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012588","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_STEROID_RESISTANT_NEPHROTIC_SYNDROME","geneSymbols":["AVIL","COQ6","COQ8B","CRB2","DAAM2","EMP2","KIRREL1","LAMA5","MAGI2","NUP133","NUP160","NUP205","NUP85","NUP93","SGPL1","TBC1D8B","TPRKB"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_URINARY_ELECTROLYTE_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M38141","pmid":"","exactSource":"HP:0012591","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012591","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_URINARY_ELECTROLYTE_CONCENTRATION","geneSymbols":["ABCC6","ADCY10","ALDOB","ALG5","ALG9","ALPL","AMMECR1","AP2S1","ATP1A1","ATP6V0A4","ATP7B","AVPR2","BAZ1B","BCL7B","BICC1","BSND","BTNL2","BUD23","CACNA1S","CASR","CDC73","CDKN1A","CDKN1B","CDKN1C","CDKN2B","CDKN2C","CFTR","CLCN5","CLCNKA","CLCNKB","CLDN10","CLDN16","CLDN19","CLIP2","COA8","CTNS","CYP11A1","CYP11B1","CYP11B2","CYP21A2","CYP24A1","DCDC2","DMP1","DNAJB11","DNAJC30","EHHADH","EIF4H","ELN","ENPP1","FAM20A","FCGR2A","FGF23","FKBP6","FXYD2","GABRA3","GANAB","GATM","GCM2","GNA11","GNAS","GTF2I","GTF2IRD1","GTF2IRD2","HLA-DRB1","HNF1B","HNF4A","HRAS","HSD11B2","HSD3B2","IFT122","IFT140","INPPL1","INSR","KCNJ1","KCNJ10","KCNJ16","KCNJ18","KCNJ5","KRAS","LIMK1","MAGED2","MC2R","MEN1","METTL27","MLXIPL","MRAP","MT-TN","MT-TS1","MUC1","NCF1","NDUFAF6","NHERF1","NNT","NR0B1","NRAS","OCRL","PHEX","PIGT","PIK3C2A","PKD1","PKD2","PTH1R","RFC2","SARS2","SCNN1A","SERPINA6","SLC12A1","SLC12A3","SLC22A12","SLC2A2","SLC2A9","SLC34A1","SLC34A3","STAR","STX1A","SURF1","TBL2","TGFB1","TMEM270","TMEM67","TNFRSF11B","TXNRD2","VPS37D"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ALBUMINURIA":{"collection":"C5:HPO","systematicName":"M38142","pmid":"","exactSource":"HP:0012592","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012592","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ALBUMINURIA","geneSymbols":["ABCC8","ALG5","ALG9","BICC1","CUBN","DNAJB11","GALT","GANAB","GCK","IER3IP1","IFT140","INS","KCNJ11","MIA3","PDX1","PEX1","PKD1","PKD2","SLC37A4","STAT3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MODERATE_ALBUMINURIA":{"collection":"C5:HPO","systematicName":"M38143","pmid":"","exactSource":"HP:0012594","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012594","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MODERATE_ALBUMINURIA","geneSymbols":["ABCC8","GCK","IER3IP1","INS","KCNJ11","MIA3","PDX1","SLC37A4","STAT3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MILD_PROTEINURIA":{"collection":"C5:HPO","systematicName":"M46235","pmid":"","exactSource":"HP:0012595","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012595","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MILD_PROTEINURIA","geneSymbols":["KARS1","PAX2","SLC22A12","SLC2A9","VPS50","WDR19"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_URINE_POTASSIUM_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M38144","pmid":"","exactSource":"HP:0012598","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012598","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_URINE_POTASSIUM_CONCENTRATION","geneSymbols":["ATP1A1","BSND","CACNA1S","CLCNKA","CLCNKB","CTNS","CYP11A1","EHHADH","GABRA3","GATM","KCNJ1","KCNJ10","KCNJ18","NDUFAF6","SERPINA6","SLC12A1","SLC12A3","SLC34A1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_URINE_PHOSPHATE_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M38145","pmid":"","exactSource":"HP:0012599","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012599","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_URINE_PHOSPHATE_CONCENTRATION","geneSymbols":["ABCC6","ALDOB","ATP7B","CASR","CDC73","CLCN5","COA8","CTNS","DMP1","EHHADH","ENPP1","FAM20A","FGF23","GATM","GCM2","GNAS","HNF4A","HRAS","INPPL1","KRAS","MEN1","MT-TN","MT-TS1","NDUFAF6","NHERF1","NRAS","OCRL","PHEX","PTH1R","SLC2A2","SLC34A1","SLC34A3","SURF1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_URINE_SODIUM_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M38146","pmid":"","exactSource":"HP:0012603","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012603","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_URINE_SODIUM_CONCENTRATION","geneSymbols":["AVPR2","BSND","CLCNKA","CLCNKB","CYP11A1","CYP11B2","EHHADH","GATM","HSD11B2","KCNJ10","MC2R","MRAP","NDUFAF6","NNT","SLC34A1","STAR","TXNRD2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPERNATRIURIA":{"collection":"C5:HPO","systematicName":"M41458","pmid":"","exactSource":"HP:0012605","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012605","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERNATRIURIA","geneSymbols":["AVPR2","BSND","CLCNKA","CLCNKB","CYP11A1","MC2R","MRAP","NNT","STAR","TXNRD2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RENAL_SODIUM_WASTING":{"collection":"C5:HPO","systematicName":"M41459","pmid":"","exactSource":"HP:0012606","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012606","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RENAL_SODIUM_WASTING","geneSymbols":["CYP11B2","EHHADH","GATM","HSD11B2","KCNJ10","NDUFAF6","SLC34A1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_URINE_MAGNESIUM_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M38147","pmid":"","exactSource":"HP:0012607","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012607","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_URINE_MAGNESIUM_CONCENTRATION","geneSymbols":["ATP1A1","CASR","CLDN16","CLDN19","FXYD2","GNA11","IFT122","KCNJ10","SLC12A3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_URINARY_URIC_ACID_LEVEL":{"collection":"C5:HPO","systematicName":"M41460","pmid":"","exactSource":"HP:0012610","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012610","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_URINARY_URIC_ACID_LEVEL","geneSymbols":["ALDOB","EHHADH","GATM","HPRT1","MOCS1","MOCS2","NDUFAF6","PNP","PRPS1","SLC22A12","SLC2A9","SLC34A1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_URINE_CYTOLOGY":{"collection":"C5:HPO","systematicName":"M38149","pmid":"","exactSource":"HP:0012614","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012614","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_URINE_CYTOLOGY","geneSymbols":["ACP5","ACSL4","ACVRL1","ADAMTS13","AGGF1","AGXT","ALG5","ALG9","AMMECR1","APOA1","APRT","B2M","BANK1","BCOR","BICC1","BLK","BRCA2","C3","C4A","C4B","CD109","CD2AP","CD46","CD81","CFB","CFH","CFHR5","CFI","CLCN5","CLDN16","CLDN19","CLEC7A","COL4A1","COL4A3","COL4A4","COL4A5","COL4A6","CR2","CTLA4","CTNS","CUBN","DIS3L2","DLST","DNAJB11","DNASE1","DNASE1L3","DNMT3A","DPH1","ENG","EPAS1","ETS1","F10","F2","F5","F8","FAN1","FCGR2B","FCGR3B","FGA","FH","FIP1L1","FN1","GANAB","GATA3","GBA1","GDF2","GLA","GP1BA","GP1BB","GP9","GPC3","GRHPR","H19","HBB","HLA-B","HLA-DPA1","HLA-DPB1","HLA-DRB1","HMOX1","HNF1B","HOGA1","HPRT1","IFT140","IGHG1","IL10","IL17F","IL17RA","IL17RC","INF2","IRAK1","IRF2BP2","IRF5","ITGA2","ITGA2B","ITGA6","ITGAM","ITGB3","ITGB4","JAZF1","KANK2","KCNE5","KIAA0319L","KIF1B","LARS2","LMAN1","LMNB2","LMX1B","LPIN2","LYZ","MAX","MCFD2","MDH2","MECP2","MMACHC","MYO1E","NABP1","NF1","NOS1AP","NOTCH2","NPHP3","NPM1","NUMA1","NUP133","NUP85","NUP93","OCRL","P4HA2","PAX2","PBX1","PDCD1","PFKM","PKD1","PKD2","PML","POU6F2","PRDX1","PRKAR1A","PRTN3","PTPN22","PXK","RARA","REST","RET","SAT1","SCARB2","SDHA","SDHAF2","SDHB","SDHC","SDHD","SERPINF2","SLC22A12","SLC25A11","SLC2A9","SLC34A2","SLC37A4","SLC5A1","SMAD4","SMARCAL1","SPP1","SPRY2","SPTBN1","SREBF1","STAT3","STAT4","STAT5B","STIM1","TBL1XR1","THBD","TLR7","TMEM127","TNFAIP3","TNFSF4","TNIP1","TRAF3IP2","TREX1","TRIM28","TRIP13","TSC1","TSC2","UBE2L3","UMPS","VHL","WT1","YAP1","ZBTB16"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MULTIPLE_BLADDER_DIVERTICULA":{"collection":"C5:HPO","systematicName":"M46236","pmid":"","exactSource":"HP:0012619","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012619","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MULTIPLE_BLADDER_DIVERTICULA","geneSymbols":["EFEMP2","FBLN5","LTBP1","LTBP4","MED12"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CHRONIC_KIDNEY_DISEASE":{"collection":"C5:HPO","systematicName":"M38150","pmid":"","exactSource":"HP:0012622","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012622","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHRONIC_KIDNEY_DISEASE","geneSymbols":["ACP5","ACTN4","AGXT","AHI1","ALDOB","ALG5","ALG9","ALMS1","ANKFY1","ANKS6","ANLN","APOL1","APRT","ARHGAP24","ARHGDIA","AVIL","B2M","BBIP1","BICC1","BNC2","BSND","C3","CC2D2A","CD151","CD2AP","CD81","CEP164","CEP290","CEP83","CFH","CFHR5","CHRNA3","CLCN5","CLCNKA","CLCNKB","CLDN16","CLDN19","COL4A3","COL4A4","COL4A5","COL4A6","COL7A1","COQ6","COQ8B","CORIN","CPT2","CRB2","CTNS","DAAM2","DCDC2","DGKE","DNAJB11","DSTYK","DZIP1L","EHHADH","EIF2AK3","EMP2","FAN1","FLT1","FN1","GANAB","GAPVD1","GATA3","GATM","GCDH","GLIS2","GON7","GSN","HNF1B","HNRNPK","IFNG","IFT122","IFT140","IFT172","IFT43","INF2","INVS","IQCB1","JAG1","KYNU","LAGE3","LAMA5","LAMB2","LDHA","LMX1B","LZTFL1","MAFB","MAGI2","MAPKBP1","MEFV","MMP1","MMUT","MT-TL1","MUC1","MYO1E","MYOCD","NDUFAF6","NEK8","NOD2","NOS1AP","NPHP1","NPHP3","NPHP4","NPHS1","NPHS2","NTRK1","NUP107","NUP133","NUP160","NUP205","NUP37","NUP85","NUP93","OCRL","OSGEP","PAX2","PBX1","PIGA","PKD1","PKD2","PKDCC","PKHD1","PLCE1","POLRMT","PPOX","PRKCD","PRPS1","PTPRO","PUS3","PYGM","RAD51C","REN","RNU7-1","ROBO1","RPGRIP1L","RRM2B","SAA1","SARS2","SDCCAG8","SEC61A1","SGPL1","SH2B1","SLC22A12","SLC2A9","SLC30A9","SLC34A1","SLC37A4","SLC41A1","SLC4A2","SLC7A7","SMARCAL1","SOX18","SPRY2","SRCAP","STOX1","TBC1D8B","TMEM126B","TMEM231","TMEM67","TP53RK","TPRKB","TRAF3IP1","TRPC6","TSC1","TSC2","TTC21B","TTC26","WDR19","WT1","XPNPEP3","YRDC","ZMPSTE24","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_INTRAOCULAR_PRESSURE":{"collection":"C5:HPO","systematicName":"M38151","pmid":"","exactSource":"HP:0012632","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012632","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_INTRAOCULAR_PRESSURE","geneSymbols":["ADAMTS17","ASB10","ASPH","BAP1","C1QTNF5","CHRDL1","CHST14","COL18A1","COL2A1","COL8A2","CYP1B1","CYSLTR2","DSE","EFEMP1","FN1","FOXE3","GLIS3","GNA11","GNAQ","GRHL2","HLA-A","HMX1","LMX1B","LOXL1","LTBP2","MYOC","NFIA","OVOL2","PITX3","PRSS56","PXDN","SF3B1","SLC39A14","TEK","VSX1","ZEB1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RETINAL_VEIN_OCCLUSION":{"collection":"C5:HPO","systematicName":"M43444","pmid":"","exactSource":"HP:0012636","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012636","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETINAL_VEIN_OCCLUSION","geneSymbols":["CYP1B1","EFEMP1","F12","LOXL1","MYOC","SERPINC1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INCREASED_INFLAMMATORY_RESPONSE":{"collection":"C5:HPO","systematicName":"M47215","pmid":"","exactSource":"HP:0012649","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012649","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_INFLAMMATORY_RESPONSE","geneSymbols":["A2ML1","AARS1","AASS","ABCA12","ABCA3","ABCB1","ABCB11","ABCB4","ABCC6","ABCC9","ABCD1","ACADVL","ACP5","ACTA1","ACTC1","ACTG2","ACTN4","ADA","ADA2","ADAM17","ADAMTS2","ADAMTS3","ADAMTSL2","ADAR","ADAT3","AEBP1","AFF4","AGA","AGPAT2","AGR2","AIP","AIRE","AK2","AKR1D1","AKT1","ALDH18A1","ALDH3A2","ALG12","ALG5","ALG9","ALMS1","ALOX12B","ALOXE3","AMACR","ANAPC1","ANGPT2","ANK1","ANKFY1","ANKRD11","ANKRD55","ANLN","ANO5","AP1B1","AP1S3","AP2S1","AP3B1","APC","APC2","APOA1","APOC2","APOE","APOL1","AR","ARHGAP24","ARHGAP29","ARHGDIA","ARHGEF2","ARHGEF38","ARID1A","ARID1B","ARID2","ARMC5","ARPC1B","ARSB","ARVCF","ASAH1","ASPRV1","ASXL1","ATAD1","ATL1","ATL3","ATM","ATN1","ATOH7","ATP6V0A1","ATP6V1B2","ATP7A","ATP7B","ATP8B1","ATRX","AUTS2","AXIN1","B2M","B3GALT6","B4GALT1","BACH2","BANK1","BAP1","BAZ1B","BCAP31","BCKDHA","BCKDHB","BCL10","BCL11B","BCL7B","BCOR","BCS1L","BICC1","BIRC3","BLK","BLM","BLNK","BLOC1S6","BMP4","BNC2","BPTF","BRAF","BRCA1","BRD4","BSCL2","BTD","BTK","BTNL2","BUD23","C1QA","C1QB","C1QC","C1R","C1S","C2orf69","C3","C4A","C4B","C5","CACNA1C","CACNA1G","CALR","CAMK2B","CAPN3","CAPN5","CARD10","CARD11","CARD14","CARD8","CARD9","CARMIL2","CARS1","CASP10","CASP8","CASR","CAT","CAV1","CAVIN1","CBL","CBS","CCBE1","CCDC103","CCDC39","CCDC40","CCDC47","CCDC65","CCNO","CCR1","CCT5","CD151","CD19","CD247","CD27","CD28","CD2AP","CD3D","CD3E","CD3G","CD4","CD40LG","CD79A","CD79B","CD81","CDC42BPB","CDC45","CDC73","CDH1","CDH23","CDK10","CDKN1B","CDON","CDSN","CEACAM3","CEACAM6","CEBPE","CERS3","CFAP221","CFAP298","CFAP300","CFAP410","CFAP45","CFAP52","CFAP74","CFB","CFHR5","CFI","CFTR","CHD7","CHST14","CIB1","CIC","CIDEC","CIITA","CITED2","CLCA4","CLCN7","CLCNKB","CLDN1","CLEC7A","CLIP2","CLN3","CLPB","CLTCL1","CLTRN","COBLL1","COG6","COG8","COL11A1","COL11A2","COL17A1","COL2A1","COL3A1","COL4A3","COL4A4","COL4A5","COL4A6","COL5A1","COL5A2","COL7A1","COMT","COPA","COQ8B","CORO1A","COX4I2","CPA1","CPLX1","CR2","CRB2","CREBBP","CRLF1","CSF2RA","CSF2RB","CSPP1","CST6","CSTA","CTBP1","CTC1","CTLA4","CTNNB1","CTRC","CTSB","CTSC","CXCR4","CYBA","CYBB","CYBC1","CYP11B1","CYP4F22","CYP7A1","CYP7B1","CYSLTR2","DAAM2","DBT","DCDC2","DCLRE1B","DCLRE1C","DCTN4","DDB1","DDB2","DDR2","DDX41","DEAF1","DEF6","DGKE","DHCR7","DIP2B","DISP1","DKC1","DLG1","DLK1","DLL1","DLX4","DNAAF1","DNAAF11","DNAAF2","DNAAF3","DNAAF4","DNAAF5","DNAAF6","DNAH1","DNAH11","DNAH5","DNAH7","DNAH9","DNAI1","DNAI2","DNAJB11","DNAJB13","DNAJC21","DNAJC30","DNAL1","DNASE1","DNASE1L3","DNASE2","DNMT1","DNMT3B","DOCK2","DOCK8","DOLK","DPF2","DPP9","DRC1","DSE","DSG1","DZIP1L","EBP","ECM1","EDA","EDAR","EDARADD","EDNRA","EFEMP2","EFL1","EGFR","EIF4H","ELANE","ELF4","ELN","ELOVL4","EMP2","EN1","ENPP1","EP300","EPB42","EPCAM","EPG5","EPHB4","EPM2A","ERAP1","ERCC1","ERCC2","ERCC3","ERCC4","ERCC5","ERCC6","ERCC8","ERF","ESR1","ETS1","EXTL3","F13A1","F13B","F5","FAM111B","FANCF","FAS","FASLG","FAT4","FBLN5","FBN1","FBXW7","FCGR2A","FCGR2B","FCGR3A","FCGR3B","FCHO1","FCN3","FECH","FERMT1","FERMT3","FGA","FGF10","FGF3","FGF8","FGFR1","FGFR2","FGFR3","FH","FIG4","FIP1L1","FKBP6","FLG","FLG2","FLI1","FLII","FLNA","FLT4","FLVCR1","FMO3","FMR1","FNIP1","FOCAD","FOXC2","FOXD3","FOXH1","FOXJ1","FOXN1","FOXP1","FOXP3","FZD2","G6PC1","G6PC3","GALNS","GANAB","GAPVD1","GAS1","GAS2L2","GAS8","GATA1","GATA2","GATA3","GATA4","GATA6","GBA1","GCGR","GCLC","GFI1","GGT1","GINS1","GIPC1","GJA1","GJB2","GJB3","GJB4","GJB6","GJC2","GK","GLB1","GLI2","GLIS3","GLRA1","GLRA2","GLRB","GNA11","GNAQ","GNAS","GNB2","GNPTAB","GNS","GORAB","GP1BB","GPHN","GPIHBP1","GPR101","GPR35","GRB10","GRHL3","GSN","GSTM3","GTF2E2","GTF2H5","GTF2I","GTF2IRD1","GTF2IRD2","GUCY2C","GUSB","H3-3B","H4C3","H4C5","H6PD","HACD1","HAVCR2","HBA1","HBA2","HBB","HDAC4","HDAC8","HEPHL1","HFE","HGD","HIRA","HLA-A","HLA-B","HLA-C","HLA-DPA1","HLA-DPB1","HLA-DQA1","HLA-DQB1","HLA-DRB1","HLCS","HMGCL","HMOX1","HNRNPA2B1","HOXA13","HPGD","HPS1","HSD3B7","HSPA9","HYAL1","HYDIN","HYOU1","IARS1","IARS2","ICOS","IDH1","IDS","IDUA","IFIH1","IFNG","IFNGR1","IFT140","IFT172","IGBP1","IGF2R","IGHG1","IGHG2","IGHM","IGKC","IGLL1","IGSF3","IKBKB","IKBKG","IKZF1","IKZF3","IL10","IL10RA","IL10RB","IL11RA","IL12A","IL12A-AS1","IL12B","IL12RB1","IL17F","IL17RA","IL17RC","IL18BP","IL1R1","IL1RN","IL21","IL21R","IL23R","IL2RA","IL2RB","IL2RG","IL36RN","IL37","IL4R","IL6","IL6R","IL6ST","IL7","IL7R","INAVA","INF2","IPO8","IQSEC2","IRAK1","IRF2BP2","IRF4","IRF5","IRF6","IRF8","IRF9","IRGM","ITCH","ITGA6","ITGA7","ITGAM","ITGB2","ITGB4","ITK","IVNS1ABP","JAGN1","JAK1","JAK2","JAK3","JAZF1","JMJD1C","KANK2","KANSL1","KARS1","KAT6A","KCNJ6","KCNN4","KCTD1","KDF1","KDM6A","KDSR","KIAA0319L","KIAA0586","KIF11","KIF12","KIF15","KIRREL1","KIT","KLRC4","KMT2A","KMT2D","KMT5B","KNSTRN","KPTN","KRT1","KRT10","KRT14","KRT17","KRT18","KRT5","KRT74","KYNU","LACC1","LAGE3","LAMA2","LAMA3","LAMB3","LAMC2","LAT","LBR","LCK","LCP2","LDHA","LEMD3","LEP","LETM1","LGI3","LHCGR","LIG1","LIG4","LIMK1","LIPN","LMBRD1","LMF1","LMNA","LMNB1","LMNB2","LMX1B","LONP1","LPIN1","LPIN2","LPL","LRBA","LRIF1","LRP12","LRRC32","LRRC56","LRRC8A","LSM11","LSS","LTBP1","LTBP3","LTBP4","LYST","LYZ","MAB21L1","MAF","MAGI2","MAGT1","MALT1","MAN2B1","MAP3K20","MAP3K7","MAPK1","MARS2","MASP2","MBL2","MBTPS2","MCCC2","MCIDAS","MDM4","MECP2","MED12","MED25","MEFV","MEG3","MEGF10","MEIS2","MEN1","MET","METTL27","MGP","MIA3","MID1","MIF","MLX","MLXIPL","MMACHC","MME","MMEL1","MMP1","MMUT","MNS1","MNX1","MORC2","MPDU1","MPEG1","MPLKIP","MPV17","MRTFA","MS4A1","MS4A2","MSMO1","MSN","MST1","MSX1","MT-CO1","MT-CO2","MT-CO3","MT-ND1","MT-ND4","MT-ND5","MT-ND6","MT-TF","MT-TH","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TW","MTAP","MTHFD1","MTM1","MTTP","MVK","MYCN","MYD88","MYH11","MYH6","MYH9","MYL2","MYO1E","MYO1H","MYSM1","NAA10","NABP1","NADK2","NAE1","NAXD","NBEA","NBN","NCF1","NCF2","NCF4","NCKAP1L","NCSTN","NDUFA6","NDUFS3","NECTIN1","NEK10","NEK9","NELFA","NF1","NFE2L2","NFIX","NFKB1","NFKB2","NFKBIA","NFS1","NGF","NHLRC1","NHP2","NIPAL4","NIPBL","NKX2-1","NKX2-5","NLRC4","NLRP1","NLRP12","NLRP3","NME5","NME8","NOD2","NODAL","NOP10","NOS1","NOTCH2","NOTCH2NLC","NPHS1","NPHS2","NPM1","NR1H4","NR3C1","NSD1","NSD2","NSMCE2","NSMCE3","NSUN2","NTRK1","NUMA1","NUP107","NUP133","NUP160","NUP205","NUP37","NUP85","NUP93","NXN","OBSCN","OCRL","ODAD1","ODAD2","ODAD3","ODAD4","OFD1","OPLAH","ORAI1","ORC6","OSTM1","OTULIN","P4HA2","P4HTM","PAFAH1B1","PAH","PANK2","PAPSS2","PARN","PAX1","PAX2","PAX6","PCCA","PCCB","PCYT1A","PDCD1","PDE11A","PDGFRA","PDGFRL","PDHA1","PEPD","PERCC1","PGM1","PGM2L1","PGM3","PHGDH","PHIP","PI4KA","PIEZO1","PIGA","PIGG","PIGN","PIGY","PIK3CA","PIK3CD","PIK3CG","PIK3R1","PKD1","PKD2","PKHD1","PKP1","PLA2G6","PLA2G7","PLCD1","PLCE1","PLCG2","PLCH1","PLEC","PLEKHM1","PLG","PLOD1","PLXND1","PML","PMM2","PNP","PNPLA1","PNPLA2","POFUT1","POGLUT1","POLA1","POLE","POLG","POLH","POLR3A","POMP","POU2AF1","PPARG","PRDM12","PRF1","PRG4","PRKACA","PRKAR1A","PRKAR1B","PRKCD","PRKDC","PRMT7","PRORP","PRSS1","PRSS2","PRTN3","PSEN1","PSENEN","PSMB10","PSMB4","PSMB8","PSMB9","PSMD12","PSMG2","PSPH","PSTPIP1","PTCD3","PTCH1","PTEN","PTPN2","PTPN22","PTPRC","PTPRO","PURA","PXK","RAB7A","RAC1","RAC2","RAD21","RAG1","RAG2","RAI1","RANBP2","RARA","RASGRP1","RBCK1","RBM8A","RBP4","RECQL","REL","RELB","RET","RETREG1","REV3L","RFC2","RFX5","RFX7","RFXANK","RFXAP","RHOH","RIC1","RILPL1","RIN2","RIPK1","RIT1","RMRP","RNASEH2A","RNASEH2B","RNASEH2C","RNF113A","RNF125","RNF168","RNF2","RNU12","RNU4ATAC","RNU7-1","ROR2","RORC","RPGR","RPL11","RRAS2","RREB1","RSPH1","RSPH3","RSPH4A","RSPH9","RTEL1","RTL1","RTTN","RUNX1","RUNX2","RYR1","SAMD9","SAMHD1","SASH3","SAT1","SBDS","SCN9A","SCNN1A","SCNN1B","SCNN1G","SDCCAG8","SDHA","SDHB","SDHC","SDHD","SDR9C7","SEC23B","SEC24C","SELENON","SEMA4D","SERPINA1","SERPINH1","SETBP1","SETD2","SF3B1","SFTPB","SFTPC","SGCG","SH2D1A","SH3KBP1","SH3PXD2B","SHANK3","SHH","SHOC2","SHPK","SIAH1","SIK3","SIN3A","SIX3","SKIC2","SKIC3","SLC11A1","SLC12A3","SLC25A12","SLC25A13","SLC25A15","SLC25A24","SLC26A9","SLC27A4","SLC29A3","SLC2A10","SLC30A2","SLC35A1","SLC35C1","SLC37A4","SLC39A4","SLC39A7","SLC4A1","SLC6A14","SLC6A19","SLC6A5","SLC7A7","SLC9A3","SLCO2A1","SLF2","SLURP1","SMAD3","SMARCA2","SMARCA4","SMARCAD1","SMARCAL1","SMARCB1","SMARCC2","SMARCD1","SMARCD2","SMARCE1","SMC1A","SMC3","SMG8","SMG9","SNAP29","SNX10","SOCS1","SOX11","SOX18","SOX4","SP110","SPAG1","SPEF2","SPI1","SPIB","SPINK1","SPINK5","SPP1","SPTA1","SPTB","SPTBN1","SPTLC1","SPTLC2","SRCAP","SRD5A3","SREBF1","SRP19","SRP54","SRSF2","SRY","ST14","STAG2","STAT1","STAT2","STAT3","STAT4","STAT5B","STIL","STING1","STK36","STK4","STUB1","STX11","STX16","STX1A","STXBP1","STXBP2","SULT2B1","SUOX","SYK","TAF1","TAOK1","TAP1","TAP2","TAPBP","TARS1","TBC1D24","TBC1D2B","TBC1D8B","TBCD","TBCK","TBL1XR1","TBL2","TBX1","TBX19","TBX2","TBX20","TBX4","TCF3","TCF4","TCIRG1","TDGF1","TEK","TERC","TERT","TET2","TFE3","TFG","TFRC","TG","TGDS","TGFB1","TGFB2","TGFB3","TGFBR1","TGFBR2","TGIF1","TGM1","TGM5","TICAM1","TIMM8A","TINF2","TK2","TKFC","TKT","TLK2","TLL1","TLR4","TLR7","TLR8","TMC6","TMC8","TMCO1","TMEM270","TNFAIP3","TNFRSF11A","TNFRSF13B","TNFRSF13C","TNFRSF1A","TNFRSF1B","TNFRSF9","TNFSF11","TNFSF12","TNFSF15","TNFSF4","TNIP1","TNPO3","TNRC6B","TOM1","TONSL","TOP3A","TP53","TP63","TP73","TPM2","TPM3","TPP2","TPR","TRAC","TRAF3IP2","TRAF6","TRAPPC11","TRAPPC2","TREX1","TRIM8","TRPC6","TRPM4","TTC12","TTC7A","TYMS","UBA1","UBAC2","UBB","UBE2A","UBE2L3","UFD1","UMOD","UNC119","UNC13D","UNG","UQCRH","UROD","UROS","USB1","USP26","USP48","USP8","VIPAS39","VPS33A","VPS33B","VPS37D","WAS","WDR1","WDR19","WDR26","WDR35","WIPF1","WNT4","WRAP53","WT1","XDH","XIAP","XPA","XPC","XPNPEP3","XYLT1","ZAP70","ZBTB16","ZBTB24","ZBTB7A","ZEB1","ZEB2","ZFAT","ZIC2","ZMYND10","ZNF341","ZNF699","ZNF750","ZNFX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PERISYLVIAN_POLYMICROGYRIA":{"collection":"C5:HPO","systematicName":"M41461","pmid":"","exactSource":"HP:0012650","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012650","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERISYLVIAN_POLYMICROGYRIA","geneSymbols":["ADGRG1","ATP1A2","ATP1A3","BICD2","CDON","DISP1","DLL1","FGF8","FOXH1","GAS1","GLI2","MAGEL2","MAPK8IP3","MICU1","MTOR","NANS","NDN","NODAL","OCA2","PI4KA","PTCH1","RAB3GAP1","SHH","SHMT2","SIX3","SNRPN","SRPX2","STIL","TBC1D20","TDGF1","TGIF1","TUBA1A","TUBB2B","ZIC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_BRAIN_FDG_POSITRON_EMISSION_TOMOGRAPHY":{"collection":"C5:HPO","systematicName":"M47216","pmid":"","exactSource":"HP:0012658","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012658","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BRAIN_FDG_POSITRON_EMISSION_TOMOGRAPHY","geneSymbols":["AKT1","APOE","BAP1","CHMP2B","COQ2","GRN","MAPT","NF2","PDGFB","PIK3CA","PSEN1","PSEN2","SMARCB1","SMARCE1","SMO","SQSTM1","SUFU","TERT","TMEM106B","TRAF7","TRANK1","TREM2","VCP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_REDUCED_LEFT_VENTRICULAR_EJECTION_FRACTION":{"collection":"C5:HPO","systematicName":"M47217","pmid":"","exactSource":"HP:0012664","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012664","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_LEFT_VENTRICULAR_EJECTION_FRACTION","geneSymbols":["AARS2","ABCC6","ACADVL","B2M","BAG5","COA6","CRYAB","CSRP3","DES","DSG2","DYSF","FHOD3","FKTN","GATAD1","GET3","GJA5","GTPBP3","KCNJ5","LAMA2","LAMA4","LAMP2","LMNA","LMOD2","MYBPC3","MYH6","MYH7","MYL3","MYOZ2","NEXN","NPPA","POLG","POLG2","PPCS","PSEN1","PSEN2","RAF1","RPL3L","RRAGD","RRM2B","SCN5A","SDHA","SGCD","SLC25A4","TNNC1","TNNI3","TNNT2","TOP3A","TTN","TTR","TWNK","VCL","VEZF1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SEVERELY_REDUCED_LEFT_VENTRICULAR_EJECTION_FRACTION":{"collection":"C5:HPO","systematicName":"M46237","pmid":"","exactSource":"HP:0012666","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012666","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEVERELY_REDUCED_LEFT_VENTRICULAR_EJECTION_FRACTION","geneSymbols":["BAG5","DSG2","GTPBP3","LAMP2","LMOD2","MYH6","PSEN1","TNNI3","TTN"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABULIA":{"collection":"C5:HPO","systematicName":"M46238","pmid":"","exactSource":"HP:0012671","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012671","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABULIA","geneSymbols":["CHMP2B","GRN","HTRA1","MAPT","NOTCH3","PSEN1","SQSTM1","TMEM106B","TREM2","VCP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_IRON_ACCUMULATION_IN_BRAIN":{"collection":"C5:HPO","systematicName":"M38155","pmid":"","exactSource":"HP:0012675","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012675","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IRON_ACCUMULATION_IN_BRAIN","geneSymbols":["C19orf12","COASY","CP","CRAT","DLAT","FA2H","FTL","NUDT2","PANK2","PIGA","PLA2G6","REPS1","TBCE","VPS13A","VPS41","WDR45"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_PINEAL_GLAND":{"collection":"C5:HPO","systematicName":"M38156","pmid":"","exactSource":"HP:0012680","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012680","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_PINEAL_GLAND","geneSymbols":["ABCB11","ABCB4","ADNP","ATP8B1","BPTF","GALNT2","INSR","KANSL1","KRAS","NONO","NR1H4","PNPLA2","PSMD12","VAX1","WDR26"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_PINEAL_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M41462","pmid":"","exactSource":"HP:0012681","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012681","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PINEAL_MORPHOLOGY","geneSymbols":["ADNP","BPTF","GALNT2","INSR","KANSL1","KRAS","NONO","PNPLA2","PSMD12","VAX1","WDR26"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PINEAL_CYST":{"collection":"C5:HPO","systematicName":"M41463","pmid":"","exactSource":"HP:0012683","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012683","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PINEAL_CYST","geneSymbols":["ADNP","BPTF","GALNT2","KANSL1","KRAS","NONO","PNPLA2","PSMD12","WDR26"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DECREASED_THALAMIC_VOLUME":{"collection":"C5:HPO","systematicName":"M47218","pmid":"","exactSource":"HP:0012695","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012695","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_THALAMIC_VOLUME","geneSymbols":["EXOC7","FKRP","GMPPB","GSX2","MED17","POMGNT1","POMK","POMT1","POMT2","SLC2A1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_THALAMIC_MRI_SIGNAL_INTENSITY":{"collection":"C5:HPO","systematicName":"M38158","pmid":"","exactSource":"HP:0012696","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012696","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_THALAMIC_MRI_SIGNAL_INTENSITY","geneSymbols":["AKT1","BAP1","CLN8","COX10","CP","FTL","GFAP","GTPBP3","HEXB","MFF","MTRFR","NF2","PDGFB","PIK3CA","POLG","PTCD3","SCP2","SMARCB1","SMARCE1","SMO","SUFU","TERT","TRAF7","TREM2","TWNK"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SMALL_BASAL_GANGLIA":{"collection":"C5:HPO","systematicName":"M38159","pmid":"","exactSource":"HP:0012697","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012697","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SMALL_BASAL_GANGLIA","geneSymbols":["ADAR","CNTNAP1","CYB5A","CYB5R3","FDXR","HIBCH","MT-ATP6","NANS","NUP54","NUP62","SLC19A3","TBCK","TUBB3","VPS13A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_LARGE_INTESTINE_PHYSIOLOGY":{"collection":"C5:HPO","systematicName":"M38160","pmid":"","exactSource":"HP:0012700","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012700","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LARGE_INTESTINE_PHYSIOLOGY","geneSymbols":["ABCD1","ARSA","ARVCF","ATP13A2","ATRX","BCR","CFAP43","COMT","CRKL","DACT1","DAXX","DDHD2","DMPK","DSTYK","EIF2AK2","EXT2","FA2H","FGFR3","FLVCR1","FMR1","FUZ","GLA","GP1BB","GPR35","HIRA","HPSE2","HTRA1","ISL1","JMJD1C","KY","LMNB1","LRIG2","MAPK1","MAPK8IP3","MST1","NOP56","PLP1","PSAP","RREB1","RTN2","SALL1","SCN4A","SEC24C","SEMA4D","SLC44A1","SLC9A6","TBCD","TBX1","TCF4","TP63","UBAP1","UFD1","VANGL1","VCP","ZEB2","ZFYVE26"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_SUBARACHNOID_SPACE_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M38161","pmid":"","exactSource":"HP:0012703","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012703","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SUBARACHNOID_SPACE_MORPHOLOGY","geneSymbols":["ACTA2","ACVRL1","AHCY","AIFM1","ALDH7A1","ALG11","ALG12","ALG2","ALG9","ANGPTL6","APP","ATP11A","CD109","CDH2","CHD3","COL3A1","COX16","CUX1","DCC","DNM1","DOCK8","DTYMK","ELN","ENG","F10","FBN1","FOXE3","GAA","GCDH","GDF2","GP1BA","GP1BB","GRIN1","HEY2","IDH1","ITGA2","ITGA2B","ITGB3","KIFBP","L1CAM","LMNB2","LOX","MAN2C1","MAT2A","MFAP5","MPDU1","MRE11","MT-CO1","MT-CO2","MT-CO3","MT-ND1","MT-ND4","MT-ND5","MT-ND6","MT-TF","MT-TH","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TW","MTRR","MYH11","MYLK","NARS1","NMNAT1","PIGW","PLCH1","PLPBP","PRKG1","RASA1","RNU4ATAC","SEPSECS","SLC33A1","SMAD2","SMAD3","SMAD4","SNRPN","STIM1","SYNGAP1","TGFB2","TGFB3","TGFBR1","TGFBR2","TGFBR3","THSD1","THSD4","TSEN15","TSEN2","TSEN34","TSEN54","TTC26","WAC","WARS2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_WIDENED_SUBARACHNOID_SPACE":{"collection":"C5:HPO","systematicName":"M38162","pmid":"","exactSource":"HP:0012704","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012704","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WIDENED_SUBARACHNOID_SPACE","geneSymbols":["AHCY","AIFM1","ALDH7A1","ALG11","ALG12","ALG2","ALG9","ATP11A","CHD3","COX16","CUX1","DNM1","DTYMK","GCDH","GRIN1","IDH1","KIFBP","MPDU1","MT-CO1","MT-CO2","MT-CO3","MT-ND1","MT-ND4","MT-ND5","MT-ND6","MT-TF","MT-TH","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TW","MTRR","NARS1","NMNAT1","PIGW","PLPBP","SEPSECS","SLC33A1","SNRPN","TSEN15","TSEN2","TSEN34","TSEN54","TTC26","WAC","WARS2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_METABOLIC_BRAIN_IMAGING_BY_MRS":{"collection":"C5:HPO","systematicName":"M38163","pmid":"","exactSource":"HP:0012705","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012705","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_METABOLIC_BRAIN_IMAGING_BY_MRS","geneSymbols":["ACAT1","ADORA2A","ASPA","ATAD3A","CACNA1G","CNP","COG8","COX11","COX16","CYP27A1","DNM1L","ECHS1","FARS2","FBXO28","FOCAD","GALC","GAMT","GATM","GFM2","GRM7","HPDL","HSD17B10","HTRA2","IBA57","KARS1","LYRM4","LYRM7","MECR","MRPS34","MT-CO1","MT-CO2","MT-CO3","MT-ND1","MT-ND4","MT-ND5","MT-ND6","MT-TF","MT-TH","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TW","MTRFR","NAT8L","NAXE","NDUFAF6","NDUFB7","NGLY1","POLR3A","POLRMT","PSAP","RPIA","SDHAF1","SDHB","SDHD","SLC25A12","SLC35A2","SLC39A8","SLC6A8","SQOR","SUCLG1","TBCK","VARS2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_REDUCED_BRAIN_N_ACETYL_ASPARTATE_LEVEL_BY_MRS":{"collection":"C5:HPO","systematicName":"M38164","pmid":"","exactSource":"HP:0012708","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012708","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_BRAIN_N_ACETYL_ASPARTATE_LEVEL_BY_MRS","geneSymbols":["ATAD3A","CACNA1G","CNP","FBXO28","GALC","GFM2","GRM7","NAT8L","NDUFB7","NGLY1","PSAP","SDHAF1","SDHD","SLC25A12","TBCK"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MILD_HEARING_IMPAIRMENT":{"collection":"C5:HPO","systematicName":"M38165","pmid":"","exactSource":"HP:0012712","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012712","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MILD_HEARING_IMPAIRMENT","geneSymbols":["COL1A2","CTSK","DPH1","DPH2","MED12","MFN2","PGM3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SEVERE_HEARING_IMPAIRMENT":{"collection":"C5:HPO","systematicName":"M38166","pmid":"","exactSource":"HP:0012714","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012714","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEVERE_HEARING_IMPAIRMENT","geneSymbols":["ALMS1","ATP6V1B2","BRAF","CHSY1","COL1A2","GJB2","GJB6","GPSM2","KMT2D","PTPN11","RAF1","TK2","TRIOBP","VSX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PROFOUND_HEARING_IMPAIRMENT":{"collection":"C5:HPO","systematicName":"M38167","pmid":"","exactSource":"HP:0012715","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012715","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROFOUND_HEARING_IMPAIRMENT","geneSymbols":["CIB2","EPS8","FGF3","KARS1","KCNE1","KCNQ1","MYO15A","PMP22","PRPS1","RDX","SLC12A2","YARS1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FUNCTIONAL_ABNORMALITY_OF_THE_GASTROINTESTINAL_TRACT":{"collection":"C5:HPO","systematicName":"M38168","pmid":"","exactSource":"HP:0012719","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012719","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FUNCTIONAL_ABNORMALITY_OF_THE_GASTROINTESTINAL_TRACT","geneSymbols":["AAAS","AARS1","AASS","ABCA3","ABCB1","ABCC6","ABCD1","ABCD4","ACADVL","ACOX1","ACTA1","ACTA2","ACTB","ACTG2","ACTL6B","ACVRL1","ADAM17","ADAMTS2","ADAMTSL2","ADAR","ADAT3","ADCY6","ADD3","ADGRG1","ADH1C","ADNP","AFF3","AFF4","AFG3L2","AGGF1","AGO1","AGO2","AGR2","AGRN","AICDA","ALDH18A1","ALDH4A1","ALDOB","ALG12","ALG2","ALG9","ALMS1","ALS2","AMACR","AMER1","AMPD2","ANAPC1","ANKRD11","ANO1","ANXA11","AOPEP","AP3B1","AP3B2","APC","APC2","APOE","APP","AR","ARCN1","ARF1","ARFGEF2","ARHGAP29","ARHGAP31","ARHGEF38","ARID2","ARNT2","ARPC1B","ARSL","ARV1","ARVCF","ARX","ASAH1","ASCC1","ASCL1","ASNS","ASPA","ASXL1","ASXL3","ATAD1","ATG7","ATL1","ATL3","ATN1","ATP11A","ATP13A2","ATP1A2","ATP1A3","ATP2B3","ATP5F1A","ATP6V0A1","ATP6V1A","ATP6V1B2","ATP7A","ATP7B","ATP9A","ATRX","ATXN1","ATXN10","ATXN2","ATXN3","ATXN7","ATXN8OS","B2M","B4GALNT1","BACH2","BAP1","BAZ1B","BCL10","BCL7B","BICRA","BLM","BMP4","BMPR1A","BRAF","BRCA1","BRCA2","BRD4","BUD23","C4A","CACNA1A","CACNA1B","CACNA1C","CACNA1G","CACNA1I","CACNA2D1","CAD","CALR","CAMK2A","CAMK2B","CAMTA1","CARD10","CARD11","CARD8","CARMIL2","CARS2","CASP10","CASZ1","CAV1","CAVIN1","CBL","CBS","CCDC22","CCDC47","CCN2","CCND1","CCR1","CCR6","CD109","CD3E","CD3G","CD55","CDC6","CDC73","CDH1","CDK13","CDK19","CDK4","CDKL5","CDKN1A","CDKN1B","CDKN2A","CDKN2B","CDKN2C","CDON","CEACAM3","CEACAM6","CELF2","CENPT","CEP85L","CFTR","CHAMP1","CHAT","CHCHD10","CHD7","CHMP1A","CHRNA1","CHRNA3","CHRND","CHRNE","CIITA","CISD2","CLCA4","CLCN1","CLCN4","CLIP2","CLMP","CLN3","CLN8","CLP1","CLPB","CLTC","CNKSR2","CNTNAP1","COBLL1","COG4","COG6","COG7","COL13A1","COL17A1","COL1A1","COL2A1","COL3A1","COL4A5","COL4A6","COL5A1","COL5A2","COL7A1","COLQ","COMT","COQ2","COQ4","CORIN","CORO1A","COX11","CPLX1","CPOX","CPSF3","CREBBP","CRLF1","CRYAB","CSF1R","CSPP1","CTBP1","CTC1","CTCF","CTHRC1","CTLA4","CTNNB1","CTNS","CYBC1","CYFIP2","CYP27A1","CYP7B1","DAB1","DALRD3","DAXX","DCLRE1B","DCLRE1C","DCTN1","DCTN4","DCX","DDB1","DDC","DDHD2","DDIT3","DDOST","DEAF1","DEF6","DES","DGUOK","DHCR7","DHDDS","DISP1","DKK1","DLG1","DLL1","DLL4","DLX4","DMPK","DNAAF4","DNAJB6","DNAJC13","DNAJC30","DNASE2","DNM1","DNM1L","DOCK2","DOCK6","DOCK8","DPH5","DPP9","DPYSL5","DSG1","DSP","DST","DTYMK","DYRK1A","DYSF","DZIP1L","EBF3","ECE1","ECM1","EDEM3","EDN3","EDNRA","EDNRB","EEF1A2","EGFR","EHMT1","EIF4G1","EIF4H","EIF5A","ELANE","ELF4","ELN","ELP1","ENG","ENPP1","EOGT","EP300","EPCAM","EPG5","EPRS1","ERAP1","ERBB2","ERBB3","ERCC2","ERCC6","ERCC8","ERLIN2","ERMARD","EWSR1","EXOSC5","EXOSC9","EXT1","EXT2","F10","F11","F13A1","F13B","F2","F5","F7","F8","F9","FA2H","FAH","FAM13A","FAN1","FARS2","FARSB","FAS","FASLG","FBN1","FBXL4","FBXO28","FBXO7","FBXW7","FCGR2A","FCGR2C","FCHO1","FCN3","FCSK","FERMT1","FGA","FGB","FGF10","FGF12","FGF13","FGF8","FGFR1","FGFR2","FGFR3","FGFRL1","FGG","FH","FIG4","FKBP6","FKRP","FLAD1","FLCN","FLII","FLNA","FLNC","FLT1","FLVCR1","FMR1","FNIP1","FOXG1","FOXH1","FOXP2","FOXP3","FRG1","FTL","FUS","FXN","FZD2","FZR1","GABBR2","GABRA2","GABRA5","GABRB2","GABRD","GABRG2","GALC","GAS1","GBA1","GBA2","GCDH","GCH1","GCLC","GDAP2","GDF2","GDNF","GEMIN4","GFAP","GFI1","GFI1B","GFPT1","GIGYF2","GIPC1","GJB1","GLA","GLB1","GLI2","GLRA1","GLRB","GLUD2","GLYCTK","GMNN","GMPPA","GNAO1","GNAQ","GNAS","GNB1","GNB2","GNB5","GNS","GON7","GOSR2","GP1BA","GP1BB","GP9","GPHN","GPIHBP1","GPR35","GRB10","GREM1","GRHL2","GRHL3","GRIA1","GRIN1","GRIN2D","GRM1","GRM7","GSTM3","GTF2I","GTF2IRD1","GTF2IRD2","GUCY1A1","GUCY2C","H3-3A","H3-3B","H4C5","HACD1","HCN1","HDAC8","HECTD4","HEPACAM","HEXB","HFE","HGSNAT","HIRA","HIVEP2","HLA-B","HLA-DPA1","HLA-DPB1","HLA-DQA1","HLA-DQB1","HLA-DRB1","HMBS","HMGA2","HMOX1","HNRNPH1","HNRNPH2","HNRNPK","HOXB1","HPCA","HPDL","HPGD","HPRT1","HPS1","HRAS","HSD17B10","HSD3B7","HSPG2","HTRA1","HTRA2","HTT","IARS1","IARS2","IDH1","IDH2","IDS","IFIH1","IFNGR1","IKBKG","IKZF1","IL10","IL10RA","IL10RB","IL12A","IL12A-AS1","IL12B","IL12RB1","IL21","IL21R","IL23R","IL37","IL6","IL6ST","IL7R","INAVA","IPO8","IQSEC2","IRF2BPL","IRF4","IRF5","IRF6","IRF9","IRGM","ITCH","ITGA2","ITGA2B","ITGA7","ITGB3","IVNS1ABP","JAG1","JAK1","JAK2","JAK3","JMJD1C","KAT6A","KAT6B","KATNB1","KBTBD13","KCNA2","KCNAB2","KCNB1","KCNC3","KCND3","KCNH1","KCNK9","KCNN4","KCNQ2","KCNQ3","KIAA0319L","KIAA0586","KIF1A","KIF23","KIF26A","KIF5A","KIT","KLHL40","KLHL41","KLHL7","KLRC4","KMT2A","KMT2B","KMT2C","KMT2D","KNSTRN","KRAS","KY","LAMA2","LAMA3","LAMB2","LAMB3","LAMC2","LBR","LETM1","LIFR","LIG3","LIMK1","LMAN1","LMNA","LMNB1","LMOD1","LMOD3","LMX1B","LONP1","LRBA","LRP12","LRP5","LRPPRC","LRRK2","LTBP4","LUZP1","LYRM4","MACF1","MADD","MAGEL2","MAN2B1","MAN2C1","MAP1B","MAP2K1","MAP2K2","MAP3K20","MAP3K7","MAPK1","MAPK8IP3","MAPT","MASP2","MATR3","MB","MBD5","MCEE","MCFD2","MCOLN1","MDM2","MECP2","MECR","MED12","MED12L","MED17","MED25","MEFV","MEGF10","MEIS2","MEN1","METTL27","MFF","MGAT2","MGME1","MID1","MIF","MINPP1","MITF","MLH1","MLH3","MLX","MLXIPL","MMEL1","MMP1","MMP23B","MNX1","MPI","MPL","MPZ","MRPS25","MRPS28","MRPS34","MSH2","MSH6","MSL3","MSR1","MST1","MSX1","MT-ATP6","MT-CO1","MT-CO2","MT-CO3","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND5","MT-ND6","MT-TF","MT-TH","MT-TK","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TT","MT-TV","MT-TW","MTHFS","MTRFR","MUC5B","MUSK","MVK","MYC","MYD88","MYH11","MYH14","MYH2","MYH8","MYL2","MYL9","MYLK","MYMK","MYO1H","MYO9A","MYORG","MYOT","MYPN","NAA10","NACC1","NALCN","NBN","NCAPG2","NCF1","NCF4","NDE1","NDUFA13","NDUFA6","NDUFA9","NDUFAF2","NDUFS1","NDUFS3","NEB","NECAP1","NECTIN1","NEDD4L","NEFH","NEFL","NEK1","NEPRO","NEU1","NEUROD2","NEXMIF","NF1","NF2","NFIX","NFKB2","NFKBIA","NGLY1","NIPBL","NLRC4","NOD2","NODAL","NONO","NOP56","NOS1","NOTCH1","NOTCH2NLC","NOTCH3","NPC1","NPC2","NPHS1","NR4A2","NRCAM","NRTN","NRXN1","NSD1","NSD2","NSRP1","NTNG1","NTRK1","NTRK2","NUP214","NUP54","NUP62","NUS1","NUTM2B-AS1","OCA2","OCRL","OPA1","OPLAH","OPTN","ORC1","ORC4","ORC6","P4HA2","PABPN1","PACS1","PACS2","PAK1","PALB2","PALLD","PANK2","PARN","PARS2","PAX7","PCGF2","PCNA","PDE8B","PDGFRA","PDGFRB","PDHA1","PDP1","PDPN","PEX1","PEX16","PFN1","PGM3","PHGDH","PHIP","PHOX2B","PI4KA","PIEZO1","PIEZO2","PIGA","PIGN","PIGT","PIGY","PIK3CA","PIK3CD","PIK3CG","PIK3R5","PKHD1","PLA2G6","PLAA","PLCG2","PLCH1","PLEC","PLIN4","PLOD1","PLP1","PLVAP","PLXND1","PMP22","PMS1","PMS2","PNKD","PNP","POGZ","POLA1","POLG","POLG2","POLR2A","POLR3A","POLR3B","POR","PORCN","POT1","POU2AF1","PPM1D","PPOX","PPP3CA","PRDM12","PRDM13","PRDM16","PRDX3","PRF1","PRKCD","PRKCG","PRKCSH","PRKCZ","PRKRA","PRMT7","PRNP","PRPH","PRPS1","PRTN3","PRUNE1","PSAP","PSEN1","PSPH","PSTPIP1","PTCH1","PTEN","PTPN22","PTS","PUF60","PUS3","PYCR1","PYGM","PYROXD1","QDPR","RABL3","RACGAP1","RAD21","RAI1","RARS1","RARS2","RASGRP1","RBCK1","RBPJ","RECQL4","REEP1","REL","RELN","REPS1","RERE","RET","RETREG1","REV3L","RFC2","RFX5","RFXANK","RFXAP","RHBDF2","RIC1","RILPL1","RIPK1","RLIM","RNASEH1","RNF125","RNF170","RNU4ATAC","RPL10","RPL11","RPS20","RREB1","RRM2B","RTEL1","RUNX1","SACS","SALL1","SAMD9","SATB1","SATB2","SCARB2","SCN3A","SCN4A","SCN8A","SCN9A","SCUBE3","SDHA","SDHB","SDHC","SDHD","SEC23A","SEC24C","SEC31A","SEC63","SELENON","SEMA3C","SEMA3D","SEMA3E","SEMA4A","SEMA4D","SEPSECS","SERPINA1","SERPINE1","SERPING1","SETBP1","SETD2","SETX","SFTPA1","SFTPA2","SFTPC","SGO1","SH2B1","SH3KBP1","SHANK3","SHH","SIAH1","SIGMAR1","SIK1","SIN3A","SIX3","SKI","SKIC2","SKIC3","SLC11A1","SLC12A2","SLC13A5","SLC18A3","SLC19A2","SLC19A3","SLC1A2","SLC1A3","SLC1A4","SLC25A1","SLC25A13","SLC25A22","SLC25A24","SLC25A4","SLC26A9","SLC2A10","SLC2A3","SLC35A2","SLC35C1","SLC37A4","SLC38A3","SLC44A1","SLC46A1","SLC52A2","SLC52A3","SLC5A7","SLC6A14","SLC6A3","SLC6A5","SLC6A8","SLC6A9","SLC9A3","SLC9A6","SLCO2A1","SMAD3","SMAD4","SMARCA2","SMC1A","SMC3","SMC5","SMG9","SMO","SNAP25","SNCA","SNCAIP","SNRPB","SOD1","SON","SOX10","SOX5","SP110","SPART","SPATA5","SPEN","SPG11","SPG21","SPG7","SPIB","SPINK5","SPOP","SPTAN1","SPTBN4","SPTLC1","SPTLC2","SQSTM1","SRCAP","SRD5A3","SREBF1","SRP19","SRP54","SRPX2","SRSF2","SSR4","STAC3","STAG1","STAG2","STAT1","STAT3","STAT4","STIL","STK11","STN1","STOX1","STUB1","STX11","STX1A","STXBP1","STXBP2","SUCLA2","SUCLG1","SUPT16H","SYK","SYNGAP1","SYNJ1","SYT1","SYT14","SYT2","SZT2","TAF1","TANGO2","TAOK1","TARDBP","TBC1D23","TBC1D24","TBCD","TBCE","TBK1","TBL2","TBP","TBX1","TBX4","TCEAL1","TCF4","TCIRG1","TDGF1","TECPR2","TEK","TERC","TERT","TET2","TFAP2A","TFG","TGFB1","TGFB2","TGFB3","TGFBR1","TGFBR2","TGIF1","TGM6","TIMM22","TIMM8A","TK2","TLR4","TMEM270","TMEM94","TMTC3","TNFAIP3","TNFRSF13B","TNFRSF1A","TNFSF15","TNNT1","TNPO3","TNXB","TOM1","TOP3A","TOR1A","TP53","TP63","TPM2","TPM3","TPP1","TRAK1","TRAPPC11","TRAPPC12","TRAPPC6B","TREM2","TREX1","TRIO","TRIP4","TRMT10C","TRPV6","TSC1","TSC2","TSEN15","TSEN2","TSEN34","TSEN54","TSPYL1","TTBK2","TTC19","TTC26","TTC7A","TUBB4A","TUBB6","TWIST1","TWNK","TXN2","TYMP","TYMS","TYROBP","UBA5","UBAC2","UBB","UBE3A","UBE4B","UBQLN2","UBR7","UBTF","UCHL1","UFC1","UFD1","UNC13D","UNC45A","UNC45B","USP7","USP9X","VAC14","VAMP1","VAPB","VARS1","VCP","VPS11","VPS13A","VPS33A","VPS35","VPS35L","VPS37D","VRK1","VWF","WAC","WARS2","WAS","WASHC5","WDR26","WFS1","WIPF1","WNK1","WT1","WWOX","XIAP","XRCC1","XYLT1","XYLT2","YARS2","YWHAG","YY1","ZAP70","ZBTB18","ZBTB7A","ZC4H2","ZEB2","ZFYVE26","ZIC2","ZMYM2","ZNF699","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_VENOUS_MALFORMATION":{"collection":"C5:HPO","systematicName":"M38169","pmid":"","exactSource":"HP:0012721","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012721","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VENOUS_MALFORMATION","geneSymbols":["AKT1","ALX4","CCM2","GLMN","KRIT1","MSX2","PDCD10","PIK3CA","RASA1","TEK"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HEART_BLOCK":{"collection":"C5:HPO","systematicName":"M38170","pmid":"","exactSource":"HP:0012722","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012722","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEART_BLOCK","geneSymbols":["ABCC9","ACADVL","ACTC1","ACTN2","AGXT","AKAP9","ATP6V1A","ATP6V1E1","BANF1","BRAF","BTNL2","BVES","CACNA1C","CACNA1D","CACNA1S","CACNA2D1","CACNB2","CALM1","CALM2","CALM3","CASQ2","CDC45","CDH2","CITED2","CNBP","CPT2","CTNNA3","DEF6","DES","DMPK","DOHH","DSG2","DTNA","DYSF","EMD","EXOSC5","FHL1","FLNC","GABRA3","GATA4","GATA6","GJA5","GLA","GNAI2","GNB2","GNB5","GPC3","GPC4","GPD1L","GPX4","GRIN1","GYG1","HCN4","HLA-DRB1","JUP","KCND3","KCNE3","KCNE5","KCNH2","KCNJ18","KCNJ2","KCNJ5","KCNJ8","KCNK3","KCNQ1","LAMP2","LARS2","LDB3","LEMD2","LMNA","LMOD2","LRP1","MMP14","MMP2","MT-ATP8","MT-CYB","MT-TL1","MYBPC3","MYH6","MYH7","MYL2","MYL4","MYOZ2","MYPN","NKX2-5","NPPA","PEX7","PHYH","PIGU","PKP2","PLEC","POLG2","POMT2","PPP1CB","PRKAG2","PRKG2","PSEN1","PSEN2","PTPN11","RAF1","RANGRF","RMRP","RNASEH1","RRM2B","RYR2","SCN10A","SCN1B","SCN2B","SCN3B","SCN4B","SCN5A","SCNN1A","SEMA3A","SGO1","SLC25A20","SLC4A3","SLMAP","SYNE1","SYNE2","TBX20","TBX5","TLL1","TMEM43","TNNC1","TNNI3K","TNNT2","TRDN","TRPM4","TTN","TTR","VEZF1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_UPPER_EYELID_EDEMA":{"collection":"C5:HPO","systematicName":"M41464","pmid":"","exactSource":"HP:0012724","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012724","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UPPER_EYELID_EDEMA","geneSymbols":["DHX30","FRMD4A","KAT6A","MED12L","RIN2","SLC29A3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CUTANEOUS_SYNDACTYLY":{"collection":"C5:HPO","systematicName":"M38171","pmid":"","exactSource":"HP:0012725","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012725","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CUTANEOUS_SYNDACTYLY","geneSymbols":["ANKRD11","ATP6V1B2","ATP9A","BCOR","BHLHA9","BICRA","BLTP1","CACNA1C","CAMTA1","CCBE1","CDH1","CDH11","CEP55","CHSY1","CHUK","CKAP2L","CREBBP","CTNND1","DCHS1","DEAF1","DHCR7","DYRK1A","EP300","FAT4","FGF16","FGF9","FGFR2","FIG4","FRAS1","FREM2","GABRA3","GJA1","GLI3","GRIP1","H4C9","HOXD13","IQCE","IRF6","KAT6A","KCTD1","KIF7","LMBR1","LRP4","MAP3K20","MCTP2","MECP2","MEGF8","MEIS2","MYH3","MYH8","NECTIN1","NECTIN4","NOG","ORC1","PAX3","PIEZO2","PPP2R3C","PRKD1","PTDSS1","RBM10","RFX7","ROR2","RPL10","SCARF2","SETBP1","SLC39A8","SMARCAD1","SMOC1","SVBP","TBC1D24","TMEM94","TP63","TRRAP","TWIST1","TWIST2","WDR19","XYLT1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_EPISODIC_HYPOKALEMIA":{"collection":"C5:HPO","systematicName":"M43446","pmid":"","exactSource":"HP:0012726","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012726","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EPISODIC_HYPOKALEMIA","geneSymbols":["ATP1A1","CACNA1S","GABRA3","KCNE3","KCNJ18","SCN4A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_THORACIC_AORTIC_ANEURYSM":{"collection":"C5:HPO","systematicName":"M38172","pmid":"","exactSource":"HP:0012727","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012727","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THORACIC_AORTIC_ANEURYSM","geneSymbols":["ABL1","ACTA2","ADAMTS19","AEBP1","AFF4","ALDH1A2","ALG5","ALG9","ANGPTL6","ATP2B1","ATP6V1A","B3GALT6","B3GAT3","BAZ1B","BCL7B","BGN","BICC1","BRF1","BUD23","CARS1","CASZ1","CHD7","CHST3","CLIP2","COL1A1","COL1A2","COL3A1","COL5A1","COL5A2","DNAJB11","DNAJC30","DNMT3A","EFEMP2","EIF4H","ELN","ENG","ERCC6","ERCC8","FBLN5","FBN1","FBN2","FKBP6","FLNA","FMR1","FOXE3","GABRD","GANAB","GATA5","GJA5","GJA8","GTF2I","GTF2IRD1","GTF2IRD2","HEY2","HLA-B","HNRNPK","HSPG2","IFT140","IL12B","IPO8","KANSL1","KCNAB2","KCNH1","LIMK1","LMNA","LOX","LUZP1","MAT2A","MED12","METTL27","MFAP5","MID1","MLX","MLXIPL","MMP23B","MYH11","MYLK","MYPN","NCF1","NKAP","NKX2-5","NODAL","NOTCH1","NPR3","PDPN","PGM3","PIGN","PKD1","PKD2","PPP1CB","PRDM16","PRKCZ","PRKG1","RERE","RFC2","ROBO4","SEMA3E","SKI","SLC2A10","SMAD2","SMAD3","SMAD4","SMAD6","SPECC1L","SPEN","STX1A","TBL2","TGFB2","TGFB3","TGFBR1","TGFBR2","TGFBR3","THSD1","THSD4","TMEM270","TPM2","TPM3","UBE4B","VPS37D","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ECTOPIC_ANTERIOR_PITUITARY_GLAND":{"collection":"C5:HPO","systematicName":"M38173","pmid":"","exactSource":"HP:0012731","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012731","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ECTOPIC_ANTERIOR_PITUITARY_GLAND","geneSymbols":["FOXA2","GLI2","HESX1","LHX4","OTX2","POU1F1","PROP1","SOX3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ANORECTAL_ANOMALY":{"collection":"C5:HPO","systematicName":"M38174","pmid":"","exactSource":"HP:0012732","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012732","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANORECTAL_ANOMALY","geneSymbols":["AKT1","APC","ARVCF","AXIN2","BAZ1B","BCL7B","BCOR","BMPR1A","BUD23","CCBE1","CCNQ","CDK8","CDKN2A","CEACAM3","CEACAM6","CFTR","CHEK2","CHN1","CLCA4","CLIP2","COL1A1","COL5A1","COL5A2","COMT","COX7B","CTC1","CYBA","CYBB","DACT1","DCTN4","DDB1","DICER1","DKC1","DNAJC30","DOCK2","EDNRA","EIF4H","ELN","ENG","EPCAM","FAN1","FCGR2A","FKBP6","FREM1","FREM2","GCLC","GP1BB","GREM1","GSTM3","GTF2I","GTF2IRD1","GTF2IRD2","HCCS","HFE","HIRA","HMOX1","HOXD13","IGHM","IL10RB","INSR","ITGB2","JAK3","JMJD1C","KCNN4","KEAP1","KIF7","KIT","KLLN","KRAS","LIG4","LIMK1","LMNA","LONP1","LTBP4","MAFB","MDM2","METTL27","MID1","MIF","MKKS","MLH1","MLH3","MLXIPL","MNX1","MSH2","MSH3","MSH6","MUTYH","MYH11","NAA10","NBN","NCF1","NCF2","NDUFB11","NHP2","NOP10","NPM1","NSUN2","NTHL1","OTUD5","PARN","PDE11A","PDGFRA","PI4KA","PIGN","PIGV","PIK3CA","PMS1","PMS2","POLD1","POLE","POLR1B","POLR1C","POLR1D","PRKAR1A","PRMT7","PTEN","RAC2","RAD51C","RECQL4","RFC2","RNF43","RNU12","RPS20","RPS6KA3","RREB1","RTEL1","SALL1","SALL4","SDHA","SDHB","SDHC","SDHD","SEC23B","SEC24C","SEMA4A","SERPINA1","SLC11A1","SLC26A9","SLC6A14","SLC9A3","SMAD4","SPINT2","STK11","STX1A","TBL2","TBX1","TCOF1","TCTN3","TERC","TERT","TGFB1","TGFBR2","TINF2","TMEM270","TP53","TTC7A","TYMS","UBR1","UFD1","USB1","USF3","VANGL1","VPS37D","WRAP53"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MACULE":{"collection":"C5:HPO","systematicName":"M38175","pmid":"","exactSource":"HP:0012733","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012733","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MACULE","geneSymbols":["ABCB6","ABCC9","ACP5","ACTB","ADAM10","ADAR","AKT1","ANAPC1","ANKLE2","APC","ARL6IP6","ATM","ATP2A2","BLM","BRAF","BRCA1","BRCA2","BRIP1","BUB1","BUB1B","BUB3","C1R","C1S","CASZ1","CBL","CDKN1A","CDKN1B","CDKN1C","CDKN2B","CDKN2C","CEP57","CIB1","CLCN7","COL17A1","COL25A1","COL3A1","COPB1","CREBBP","CSTA","CTC1","CWC27","CYBA","CYBB","CYBC1","DDB2","DDX11","DHX30","DKC1","DNAJC21","DPP9","DSTYK","ELOVL4","ENPP1","EP300","EPHB4","ERCC1","ERCC2","ERCC3","ERCC4","ERCC5","ERCC6","ERCC8","ESCO2","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FGFR3","GABRD","GJA1","GJB3","GJB4","GNA11","GNAQ","GNAS","GNB2","GPNMB","H4C5","HEPACAM","HLA-B","HLA-DQB1","HLA-DRB1","HMGA2","HSPG2","IFNG","IGF1","IGF2","IKZF1","IL6","IL7","INSR","KANSL1","KCNAB2","KDM5C","KDM6A","KDM6B","KDSR","KIT","KITLG","KLLN","KMT2D","KRAS","KRT14","KRT5","LMNA","LUZP1","LZTR1","MAD2L2","MAN1B1","MAP2K1","MAP2K2","MAPK1","MAX","MED12","MEN1","MLH1","MMP2","MMP23B","MSH2","MSH6","MTOR","NBN","NCF1","NCF2","NCF4","NF1","NF2","NHP2","NONO","NOP10","NPM1","NRAS","PALB2","PARN","PCNT","PDE11A","PDPN","PHIP","PIGN","PIK3CA","PLAG1","PLEC","PLXND1","PMS2","POFUT1","POGLUT1","POLE","PORCN","PPP1CB","PRDM16","PRKAR1A","PRKCD","PRKCZ","PSENEN","PTEN","PTPN11","RAD51","RAD51C","RAF1","RASA1","RBBP8","RERE","RET","REV3L","RFWD3","RFX7","RTEL1","SASH1","SDHB","SDHC","SDHD","SEC23B","SET","SETBP1","SH3PXD2B","SHOC2","SKI","SKIC2","SKIC3","SLC9A1","SLF2","SLX4","SMARCA2","SMARCAD1","SMARCAL1","SNAI2","SOX10","SPECC1L","SPEN","SPRED1","ST3GAL5","STEAP3","STK11","SVBP","TERC","TERT","TGM5","TINF2","TMC6","TMC8","TMEM127","TNFRSF1A","TOP3A","TP53RK","TP63","TRIP13","TSC1","TSC2","TWIST2","TYMS","UBE2T","UBE4B","UBR1","USB1","USF3","VHL","WASF1","WBP11","WRAP53","XPA","XPC","XRCC2","ZFHX4","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_KETOTIC_HYPOGLYCEMIA":{"collection":"C5:HPO","systematicName":"M38176","pmid":"","exactSource":"HP:0012734","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012734","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_KETOTIC_HYPOGLYCEMIA","geneSymbols":["ACAD8","ACADS","GYS2","HNF1A","MC2R","MRAP","NNT","PHKB","SLC16A1","STAR","TXNRD2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_COUGH":{"collection":"C5:HPO","systematicName":"M38177","pmid":"","exactSource":"HP:0012735","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012735","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_COUGH","geneSymbols":["ABCA3","ACAT1","AGR2","ARL2BP","ATL1","ATL3","ATP11A","BAP1","BCOR","BLNK","BMPR2","BTNL2","CCDC103","CCDC39","CCDC40","CCDC65","CCNO","CD79A","CD79B","CFAP221","CFAP298","CFAP300","CFAP52","CFAP74","CFTR","CLEC7A","COL4A5","COL4A6","COPA","CRLF1","CSF2RA","CSF2RB","CTLA4","CYBB","DLEC1","DNAAF1","DNAAF11","DNAAF2","DNAAF3","DNAAF4","DNAAF5","DNAAF6","DNAH1","DNAH11","DNAH5","DNAH9","DNAI1","DNAI2","DNAJB13","DNAL1","DNASE1L3","DPP9","DRC1","DSP","EIF2AK4","EPOR","FAM13A","FARSA","FARSB","FIP1L1","FOCAD","FOXJ1","GAS2L2","GAS8","GBA1","HLA-B","HLA-DPA1","HLA-DPB1","HLA-DQA1","HLA-DQB1","HLA-DRB1","HYDIN","IGHM","IGLL1","IKZF1","IL17F","IL17RA","IL17RC","IL2RG","IL6ST","IRF2BP2","IRF4","LPIN2","LRRC56","LRRC8A","MARS1","MCIDAS","MPZ","MT-CYB","MUC5B","NABP1","NEK10","NKX2-1","NME5","NME8","NOS1","NPM1","NUMA1","ODAD1","ODAD2","ODAD3","ODAD4","OFD1","P4HA2","PANK2","PARN","PIK3R1","PML","PMP22","POMT1","PRIM1","PRKAR1A","PRTN3","PTPN22","RARA","RELB","RFC1","RNF6","RPGR","RSPH1","RSPH3","RSPH4A","RSPH9","RTEL1","SCNN1A","SCNN1B","SCNN1G","SERPINA1","SFTPA1","SFTPA2","SFTPC","SLC11A1","SLC34A2","SLC39A7","SLC41A1","SP110","SPAG1","SPEF2","SPI1","SPTLC1","SPTLC2","STAT1","STAT3","STAT5B","STK36","STN1","TBL1XR1","TCF3","TERC","TERT","TFG","TGFBR2","TRAF3IP2","TSC1","TSC2","TTC12","WWOX","ZBTB16","ZMYND10"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PROFOUND_GLOBAL_DEVELOPMENTAL_DELAY":{"collection":"C5:HPO","systematicName":"M38178","pmid":"","exactSource":"HP:0012736","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012736","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROFOUND_GLOBAL_DEVELOPMENTAL_DELAY","geneSymbols":["ADK","AIMP2","ARV1","ARX","ASNS","ATRX","CACNA2D1","CACNA2D2","CCDC88A","COG7","CRIPT","DENND5A","DST","ELOVL4","EML1","FARS2","FDFT1","FGF13","GLYCTK","GOSR2","GRIN1","GRIN2A","GUF1","H4C3","IREB2","ISCA2","KATNB1","KCNQ2","KCNT1","KCNT2","LIPT2","MFF","NDE1","NECAP1","OPA1","PARS2","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PIGU","PIGW","PLEKHG2","PRPS1","PRUNE1","PSAT1","PTPN23","QARS1","RARS2","RELN","SETBP1","SLC12A2","SLC39A8","SLC9A6","STRA6","SZT2","TBCK","UNC80","WASHC4","WDR4","ZNF526"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PAPILLOMA":{"collection":"C5:HPO","systematicName":"M38179","pmid":"","exactSource":"HP:0012740","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012740","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PAPILLOMA","geneSymbols":["AKT1","ATP2A2","BLNK","CARMIL2","CD4","CD79A","CD79B","CIB1","CXCR4","DCLRE1C","DDB2","DOCK8","ECM1","ERCC2","ERCC3","ERCC4","ERCC5","FCN3","FLT4","GATA2","HRAS","IGHM","IGLL1","IKBKG","IL7","IVNS1ABP","KLLN","LRRC8A","MSH3","NRAS","PIK3CA","PIK3R1","PORCN","PTEN","RHOH","SASH3","SDHB","SDHC","SDHD","SEC23B","SLC39A7","SPI1","STK4","TCF3","TMC6","TMC8","TP53","TPP2","USF3","XPA","XPC"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_UNILATERAL_CRYPTORCHIDISM":{"collection":"C5:HPO","systematicName":"M38180","pmid":"","exactSource":"HP:0012741","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012741","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UNILATERAL_CRYPTORCHIDISM","geneSymbols":["ADARB1","DDX59","IGF2","INSL3","KMT5B","MYRF","NFIB","NFIX","RNF135","SIN3A","SMOC1","SRY","TSR2","XYLT2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABDOMINAL_OBESITY":{"collection":"C5:HPO","systematicName":"M38181","pmid":"","exactSource":"HP:0012743","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012743","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABDOMINAL_OBESITY","geneSymbols":["AIP","ARL6","ARMC5","ATRX","BBS1","BLM","BRAF","CCDC28B","CDH23","CUL4B","DYRK1B","GNAS","HERC2","LIPE","MAGEL2","MKRN3","NKAP","NPAP1","NR3C1","PDE11A","PRKAR1A","PWAR1","PWRN1","RNPC3","SIM1","SNORD115-1","SNORD116-1","TP53","USP48","USP8","ZPR1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SHORT_PALPEBRAL_FISSURE":{"collection":"C5:HPO","systematicName":"M38182","pmid":"","exactSource":"HP:0012745","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012745","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_PALPEBRAL_FISSURE","geneSymbols":["ADNP","AFF3","ALDH1A3","ALX4","AUTS2","B3GLCT","BCL11B","BPTF","BRCA1","BRCA2","BRIP1","CDK13","CEP57","CHD4","CHN1","CLTCL1","COG7","CREBBP","DCHS1","DDB1","DDX3X","DLK1","DONSON","EP300","ERCC4","ERMARD","EXOSC2","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FAT4","FBXO28","FOXP2","GJA1","GJA5","GJA8","H4C5","HNRNPH2","HNRNPR","HUWE1","KANSL1","KAT6B","KCNJ2","KCNJ5","KIF15","KMT2A","KRAS","LARP7","LIFR","LMNA","MAD2L2","MADD","MAFB","MAGEL2","MAPRE2","MEG3","MOGS","MUSK","MYCN","NUAK2","ORC1","PALB2","PIEZO2","POLA1","POLR1A","PPP1R12A","PRKAR1B","PRMT7","PUF60","RAD51","RAD51C","RBM10","RBPJ","RFWD3","RTL1","SALL4","SETBP1","SETD2","SIN3A","SLC25A24","SLC2A10","SLX4","SMAD4","SMARCA2","SMC5","SMOC1","SMPD4","SNX14","SOX11","SOX6","SOX9","STAC3","STT3A","TBX1","TBX15","THOC6","TMEM107","TUBB","TXNL4A","UBE2T","UBE3B","UGDH","USP9X","WAC","XRCC2","ZBTB18","ZMPSTE24","ZNF148"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_BRAINSTEM_MRI_SIGNAL_INTENSITY":{"collection":"C5:HPO","systematicName":"M38183","pmid":"","exactSource":"HP:0012747","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012747","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BRAINSTEM_MRI_SIGNAL_INTENSITY","geneSymbols":["AIFM1","CCM2","ETHE1","FOXRED1","GTPBP3","KRIT1","LAMA2","MT-ND1","MT-ND2","MT-ND3","MTRFR","NDUFA1","NDUFA11","NDUFA6","NDUFAF1","NDUFAF2","NDUFAF3","NDUFAF4","NDUFAF5","NDUFAF8","NDUFB10","NDUFB11","NDUFB3","NDUFB9","NDUFS1","NDUFS2","NDUFS3","NDUFS4","NDUFS6","NDUFS7","NDUFS8","NDUFV1","NDUFV2","NUBPL","PDCD10","PIK3CA","RANBP2","SLC19A3","TIMMDC1","TMEM126B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FOCAL_T2_HYPERINTENSE_BRAINSTEM_LESION":{"collection":"C5:HPO","systematicName":"M38184","pmid":"","exactSource":"HP:0012748","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012748","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOCAL_T2_HYPERINTENSE_BRAINSTEM_LESION","geneSymbols":["CCM2","FOXRED1","KRIT1","MT-ND1","MT-ND2","MT-ND3","NDUFA1","NDUFA11","NDUFA6","NDUFAF1","NDUFAF2","NDUFAF3","NDUFAF4","NDUFAF5","NDUFAF8","NDUFB10","NDUFB11","NDUFB3","NDUFB9","NDUFS1","NDUFS2","NDUFS3","NDUFS4","NDUFS6","NDUFS7","NDUFS8","NDUFV1","NDUFV2","NUBPL","PDCD10","PIK3CA","TIMMDC1","TMEM126B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_BASAL_GANGLIA_MRI_SIGNAL_INTENSITY":{"collection":"C5:HPO","systematicName":"M38185","pmid":"","exactSource":"HP:0012751","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012751","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BASAL_GANGLIA_MRI_SIGNAL_INTENSITY","geneSymbols":["ALG2","ASPA","COQ8A","ETHE1","FASTKD2","GCDH","GFAP","GLB1","GLI3","GTPBP3","LRPPRC","MECR","MFF","MICU1","MT-ATP6","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND5","MT-ND6","MT-TK","MT-TL1","MT-TV","MT-TW","NADK2","NDUFS1","NDUFS4","PDE10A","PDSS2","PRNP","SLC30A10","SPG11","SUCLG1","TACO1","VPS11"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_NEURON_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M38186","pmid":"","exactSource":"HP:0012757","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012757","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_NEURON_MORPHOLOGY","geneSymbols":["AGTPBP1","AKT3","ALDH18A1","ALS2","ANG","ANXA11","ASAH1","ATXN2","ATXN3","C19orf12","C9orf72","CCNF","CEP126","CEP55","CFAP410","CHCHD10","CHMP2B","CNTNAP2","CPLANE1","CYLD","DAO","DCTN1","EPHA4","ERBB4","ERLIN2","EXOSC3","EXOSC8","EXOSC9","FIG4","FUS","GBE1","GLE1","GLT8D1","GRN","HNRNPA1","HNRNPA2B1","IGHMBP2","KIF5A","MAPT","MATR3","MTOR","NEFH","NEK1","OPTN","PFN1","PIK3CA","PLEKHG5","PNPLA6","PON1","PON2","PON3","PPARGC1A","PRKAR1B","PRPH","PSEN1","RBM28","SETX","SIGMAR1","SLC25A46","SMN1","SMN2","SOD1","SPG11","SPG7","SPTLC1","SQSTM1","TAF15","TARDBP","TBK1","TFG","TIA1","TMEM106B","TREM2","TRPM7","TUBA4A","TYROBP","UBA1","UBQLN2","UNC13A","VAPB","VCP","VPS13D","VPS41","VRK1","ZNF335"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CEREBRAL_WHITE_MATTER_ATROPHY":{"collection":"C5:HPO","systematicName":"M38187","pmid":"","exactSource":"HP:0012762","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012762","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CEREBRAL_WHITE_MATTER_ATROPHY","geneSymbols":["AIMP1","ALDH18A1","ALG11","ALG3","ASPA","ATP8A2","ATXN2","BCAP31","CACNA1E","CLN5","COG5","CPSF3","CSF1R","DCX","DNM1L","DPM2","EIF2B4","EMC1","ERCC6","ERCC8","FA2H","FAR1","GBA2","GFM2","HACE1","HSD17B4","HYCC1","IBA57","IDH1","IREB2","IRF2BPL","L2HGDH","LMNB1","MAG","MAN2B1","MDH2","MYL9","NAXE","NDUFA8","NSUN3","OPA1","PEX16","PHGDH","PLAA","POLR3K","SLC35A2","SLITRK2","STUB1","STXBP1","TRAPPC11","TTC5","USP7","VPS41"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ORTHOPNEA":{"collection":"C5:HPO","systematicName":"M38188","pmid":"","exactSource":"HP:0012764","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012764","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ORTHOPNEA","geneSymbols":["ACTC1","AGRN","AK9","CHRNA1","CHRNB1","CHRND","CHRNE","CITED2","COL13A1","CRYAB","DOK7","FLNC","GATA4","GATA6","KIF20A","LRP4","MUSK","MYH6","MYOZ2","MYPN","NKX2-5","RAPSN","SCN4A","TBX20","TLL1","TNNI3","TNNT2","TTN"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_WIDENED_CEREBELLAR_SUBARACHNOID_SPACE":{"collection":"C5:HPO","systematicName":"M41465","pmid":"","exactSource":"HP:0012765","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012765","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WIDENED_CEREBELLAR_SUBARACHNOID_SPACE","geneSymbols":["NMNAT1","SEPSECS","TSEN15","TSEN2","TSEN34","TSEN54"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_WIDENED_CEREBRAL_SUBARACHNOID_SPACE":{"collection":"C5:HPO","systematicName":"M41466","pmid":"","exactSource":"HP:0012766","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012766","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WIDENED_CEREBRAL_SUBARACHNOID_SPACE","geneSymbols":["ALG12","CHD3","IDH1","MT-CO1","MT-CO2","MT-CO3","MT-ND1","MT-ND4","MT-ND5","MT-ND6","MT-TF","MT-TH","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TW","NARS1","TTC26"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_PLACENTAL_SIZE":{"collection":"C5:HPO","systematicName":"M38189","pmid":"","exactSource":"HP:0012767","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012767","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PLACENTAL_SIZE","geneSymbols":["CDKN1C","DLK1","HMGA2","HSPG2","IGF1","IGF2","LBR","LMNA","MEG3","MKS1","MUSK","PHGDH","PLAG1","RTL1","SKIC3","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NEONATAL_ASPHYXIA":{"collection":"C5:HPO","systematicName":"M38190","pmid":"","exactSource":"HP:0012768","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012768","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEONATAL_ASPHYXIA","geneSymbols":["ALDH7A1","BIN1","COG7","DNM2","GALK1","HSD3B2","MED12","MTMR14","MYF6","PLPBP","RNF168","RYR1","SHPK","SLC27A4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_ARM_SPAN":{"collection":"C5:HPO","systematicName":"M41467","pmid":"","exactSource":"HP:0012769","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012769","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ARM_SPAN","geneSymbols":["APC2","COL9A1","COL9A2","COL9A3","DLG4","FBN1","MAF","NSD1","SETD2","TGFB3","TRAPPC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INCREASED_ARM_SPAN":{"collection":"C5:HPO","systematicName":"M41468","pmid":"","exactSource":"HP:0012771","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012771","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_ARM_SPAN","geneSymbols":["APC2","DLG4","FBN1","NSD1","SETD2","TGFB3","TRAPPC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CILIARY_BODY_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M38191","pmid":"","exactSource":"HP:0012776","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012776","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CILIARY_BODY_MORPHOLOGY","geneSymbols":["BAP1","CYSLTR2","GNA11","GNAQ","LAMB2","SF3B1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NEOPLASM_OF_THE_EAR":{"collection":"C5:HPO","systematicName":"M38192","pmid":"","exactSource":"HP:0012780","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012780","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_EAR","geneSymbols":["APC2","CCND1","CHRNG","COG1","COQ6","DDR2","EYA1","FOCAD","HRAS","IPO8","KARS1","LZTR1","NF2","NFIX","NKX2-1","NSD1","SETD2","SIX1","SMARCB1","SPRED1","SYK","VHL"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_KINKED_BRAINSTEM":{"collection":"C5:HPO","systematicName":"M43447","pmid":"","exactSource":"HP:0012793","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012793","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_KINKED_BRAINSTEM","geneSymbols":["BLTP1","FKRP","FKTN","LARGE1","POMT1","POMT2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INCREASED_CUP_TO_DISC_RATIO":{"collection":"C5:HPO","systematicName":"M41469","pmid":"","exactSource":"HP:0012796","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012796","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_CUP_TO_DISC_RATIO","geneSymbols":["ASB10","CDH11","COL18A1","CYP1B1","EFEMP1","MYOC","TEK","TRAPPC12"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NARROW_JAW":{"collection":"C5:HPO","systematicName":"M38195","pmid":"","exactSource":"HP:0012801","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012801","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NARROW_JAW","geneSymbols":["AGRN","CCNK","CHAT","COL13A1","MYO9A","MYOD1","NSD1","SLC18A3","SLC25A1","SLC5A7","SNAP25","SYT2","VAMP1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BROAD_JAW":{"collection":"C5:HPO","systematicName":"M38196","pmid":"","exactSource":"HP:0012802","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012802","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BROAD_JAW","geneSymbols":["AIP","ANO5","GPR101","LRP5","SH3BP2","SNIP1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ANISOMETROPIA":{"collection":"C5:HPO","systematicName":"M45455","pmid":"","exactSource":"HP:0012803","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012803","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANISOMETROPIA","geneSymbols":["AP1G1","CLCN3","COL25A1","KRAS","RERE","SLC35A2","ZFHX4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CORNEAL_ULCERATION":{"collection":"C5:HPO","systematicName":"M38197","pmid":"","exactSource":"HP:0012804","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012804","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CORNEAL_ULCERATION","geneSymbols":["ELP1","ERCC6","ERCC8","FGF10","FGFR2","FGFR3","FOXC2","GATA1","GJB2","GSN","KIFBP","LMNA","MPV17","MTTP","NGLY1","NTRK1","PRDM12","RIPK4","TAT","UROD","UROS","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_IRIS_TRANSILLUMINATION_DEFECT":{"collection":"C5:HPO","systematicName":"M43448","pmid":"","exactSource":"HP:0012805","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012805","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IRIS_TRANSILLUMINATION_DEFECT","geneSymbols":["ADAMTSL4","BLOC1S3","BLOC1S5","C1QTNF5","CHRDL1","COL18A1","CPAMD8","DCT","HPS5","LRMDA","MC1R","MITF","OCA2","WDR45"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PROBOSCIS":{"collection":"C5:HPO","systematicName":"M46239","pmid":"","exactSource":"HP:0012806","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012806","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROBOSCIS","geneSymbols":["CDON","DISP1","DLL1","FGF8","FGFR1","FOXH1","GAS1","GLI2","NODAL","PLCH1","PTCH1","SHH","SIX3","SMC1A","STAG2","STIL","TDGF1","TGIF1","ZIC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_NASAL_BASE_NORPHOLOGY":{"collection":"C5:HPO","systematicName":"M38198","pmid":"","exactSource":"HP:0012808","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012808","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_NASAL_BASE_NORPHOLOGY","geneSymbols":["ABCA5","ARID1A","ARID1B","ARID2","ATP6V1B2","BCORL1","DPF2","EXOSC2","FIG4","KMT5B","LIFR","METTL5","MYT1L","SIN3A","SLC26A2","SMARCA2","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SNX14","SOX11","SOX4","TBC1D24","USP9X","VAC14"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_WIDE_NASAL_RIDGE":{"collection":"C5:HPO","systematicName":"M38200","pmid":"","exactSource":"HP:0012811","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012811","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WIDE_NASAL_RIDGE","geneSymbols":["ALX4","AP4M1","FOXP2","HNRNPK","METTL5","MSL3","POLR3A","RPL10","SUZ12","TBL1XR1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPOPLASTIC_FEMALE_EXTERNAL_GENITALIA":{"collection":"C5:HPO","systematicName":"M38201","pmid":"","exactSource":"HP:0012815","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012815","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASTIC_FEMALE_EXTERNAL_GENITALIA","geneSymbols":["ACTB","AR","B3GLCT","BRD4","CCNQ","CDC45","CDC6","CDT1","CHD7","CTCF","DVL1","DVL3","ECEL1","ESR2","FGFR2","FIG4","FZD2","GAD1","GMNN","HDAC8","HERC2","HNRNPR","IRF6","KAT6B","MAGEL2","MKRN3","MOGS","NDN","NIPBL","NPAP1","NXN","OCA2","ORC1","ORC4","ORC6","POC1A","POR","PORCN","PPP2R3C","PWAR1","PWRN1","RAB18","RAB3GAP1","RAB3GAP2","RAC3","RAD21","RIPK4","ROR2","SEMA3E","SETBP1","SIM1","SLC25A24","SMARCA2","SMC1A","SMC3","SMCHD1","SNORD115-1","SNORD116-1","SNRPN","TBC1D20","TP63","TWIST2","UBE3B","VAC14","WNT5A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NONCOMPACTION_CARDIOMYOPATHY":{"collection":"C5:HPO","systematicName":"M38202","pmid":"","exactSource":"HP:0012817","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012817","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NONCOMPACTION_CARDIOMYOPATHY","geneSymbols":["CRLS1","DNAJC19","DTNA","MIB1","MLYCD","MYL2","MYOCD","MYSM1","NONO","RNU4ATAC","RYR2","SDHA","SDHAF1","SDHB","SDHD","TPM1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MYOCARDITIS":{"collection":"C5:HPO","systematicName":"M45456","pmid":"","exactSource":"HP:0012819","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012819","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MYOCARDITIS","geneSymbols":["CCND1","GPX4","IRF4","PPA2","SLC2A10","VHL"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RETINAL_VASCULAR_TORTUOSITY":{"collection":"C5:HPO","systematicName":"M38203","pmid":"","exactSource":"HP:0012841","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012841","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETINAL_VASCULAR_TORTUOSITY","geneSymbols":["ANTXR1","ARVCF","BAZ1B","BCL7B","BUD23","CENPF","CLIP2","COL4A1","COMT","DGCR2","DGCR6","DGCR8","DNAJC30","EIF4H","ELN","ESS2","ETHE1","FKBP6","FZD4","GP1BB","GTF2I","GTF2IRD1","GTF2IRD2","HIRA","IFT172","JMJD1C","LAMB2","LIMK1","LRP5","METTL27","MLXIPL","MT-ATP6","MT-CO1","MT-CO3","MT-CYB","MT-ND1","MT-ND2","MT-ND4","MT-ND4L","MT-ND5","MT-ND6","NCF1","NDP","NDUFS2","NEK1","PAX6","RFC2","RREB1","SEC24C","SELENOI","STX1A","TBL2","TBX1","TMEM270","UFD1","VPS37D","WT1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SKIN_APPENDAGE_NEOPLASM":{"collection":"C5:HPO","systematicName":"M38204","pmid":"","exactSource":"HP:0012842","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012842","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SKIN_APPENDAGE_NEOPLASM","geneSymbols":["APC","CREBBP","CTNNB1","DICER1","EP300","FLCN","GJB2","GJB6","KEAP1","KLLN","MAD1L1","MLH1","MSH2","PTEN","SEC23B","WNT10A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_TRICHILEMMOMA":{"collection":"C5:HPO","systematicName":"M47219","pmid":"","exactSource":"HP:0012844","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012844","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TRICHILEMMOMA","geneSymbols":["GJB2","GJB6","KLLN","PTEN","SEC23B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_EPILEPSIA_PARTIALIS_CONTINUA":{"collection":"C5:HPO","systematicName":"M46240","pmid":"","exactSource":"HP:0012847","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012847","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EPILEPSIA_PARTIALIS_CONTINUA","geneSymbols":["COQ8A","GABRA1","GABRG2","MRM2","PCDH19","POLG","SCN1A","SCN1B","SCN2A","SCN9A","TWNK"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SMALL_INTESTINAL_DYSMOTILITY":{"collection":"C5:HPO","systematicName":"M43449","pmid":"","exactSource":"HP:0012850","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012850","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SMALL_INTESTINAL_DYSMOTILITY","geneSymbols":["CPOX","LIG3","MYO1H","POLG","RRM2B","TYMP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HEPATIC_BRIDGING_FIBROSIS":{"collection":"C5:HPO","systematicName":"M45458","pmid":"","exactSource":"HP:0012852","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012852","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEPATIC_BRIDGING_FIBROSIS","geneSymbols":["ATP6AP1","CYP7B1","DCDC2","FADD","KIF12","LIPA","RINT1","SCYL1","TULP3","USP53"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_SCROTAL_RUGATION":{"collection":"C5:HPO","systematicName":"M43450","pmid":"","exactSource":"HP:0012856","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012856","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SCROTAL_RUGATION","geneSymbols":["MINPP1","NR5A1","SOX9","SRY","TOE1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_OVOTESTIS":{"collection":"C5:HPO","systematicName":"M38205","pmid":"","exactSource":"HP:0012861","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012861","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OVOTESTIS","geneSymbols":["COX7B","HCCS","NDUFB11","NR5A1","RSPO1","SRY","WNT4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_MALE_GERM_CELL_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M47220","pmid":"","exactSource":"HP:0012863","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012863","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MALE_GERM_CELL_MORPHOLOGY","geneSymbols":["ACTL9","AK7","AKAP3","ARMC2","AURKC","BRDT","C2CD6","CATIP","CATSPER2","CCDC34","CCDC62","CDC14A","CEP112","CFAP251","CFAP43","CFAP44","CFAP47","CFAP58","CFAP65","CFAP69","CFAP70","CFAP74","CFAP91","CT55","DNAH1","DNAH10","DNAH17","DNAH2","DNAH7","DNAH8","DNALI1","DNHD1","DPY19L2","DRC1","DZIP1","FBXO43","FKBP6","FSHB","FSIP2","GBA2","GGN","IFT74","IQCN","KCNU1","KLHL10","NANOS1","PMFBP1","PPP2R3C","QRICH2","SEPTIN12","SPATA16","SPEF2","SSX1","STRC","SUN5","TEKT3","TSGA10","TTC21A","TTC29","USP26","WDR19","ZPBP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_SPERM_HEAD_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M38207","pmid":"","exactSource":"HP:0012865","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012865","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SPERM_HEAD_MORPHOLOGY","geneSymbols":["ACTL9","ARMC2","AURKC","BRDT","C2CD6","CATIP","CATSPER2","CCDC62","CEP112","CFAP69","CFAP70","CFAP91","CT55","DNAH17","DPY19L2","FBXO43","GBA2","GGN","IQCN","PMFBP1","SPATA16","STRC","SUN5","TEKT3","TSGA10","TTC29","USP26","ZPBP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_SPERM_TAIL_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M38208","pmid":"","exactSource":"HP:0012868","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012868","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SPERM_TAIL_MORPHOLOGY","geneSymbols":["AK7","AKAP3","ARMC2","AURKC","CATIP","CATSPER2","CCDC34","CFAP251","CFAP43","CFAP44","CFAP47","CFAP58","CFAP65","CFAP69","CFAP70","CFAP74","CFAP91","CT55","DNAH1","DNAH10","DNAH17","DNAH2","DNAH7","DNAH8","DNALI1","DNHD1","DRC1","DZIP1","FKBP6","FSIP2","IFT74","KCNU1","QRICH2","SPEF2","SSX1","STRC","TTC21A","TTC29","USP26","WDR19"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ACEPHALIC_SPERMATOZOA":{"collection":"C5:HPO","systematicName":"M41471","pmid":"","exactSource":"HP:0012869","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012869","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACEPHALIC_SPERMATOZOA","geneSymbols":["BRDT","CEP112","PMFBP1","SUN5","TSGA10"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABSENT_VAS_DEFERENS":{"collection":"C5:HPO","systematicName":"M47221","pmid":"","exactSource":"HP:0012873","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012873","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_VAS_DEFERENS","geneSymbols":["ADGRG2","AR","CEACAM3","CEACAM6","CFTR","CLCA4","DCTN4","EDNRA","GCLC","GSTM3","HFE","HMOX1","HNF1B","KCNN4","MIF","SERPINA1","SLC11A1","SLC26A9","SLC6A14","SLC9A3","STX1A","TGFB1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_MALE_REPRODUCTIVE_SYSTEM_PHYSIOLOGY":{"collection":"C5:HPO","systematicName":"M38210","pmid":"","exactSource":"HP:0012874","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012874","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MALE_REPRODUCTIVE_SYSTEM_PHYSIOLOGY","geneSymbols":["AARS1","ABCA4","ABCD1","ABCD4","ABL1","ACTA2","ACTB","ACTG2","ADAMTS3","ADARB1","ADAT3","ADGRG2","ADNP","AEBP1","AFF4","AGA","AGBL5","AHI1","AHR","AIP","AIRE","AK7","AKAP3","AKR1C2","AKR1C4","AKT1","ALDH18A1","ALDH1A2","ALG12","ALG5","ALG8","ALG9","ALKBH8","ALMS1","ALX4","AMH","AMHR2","ANAPC1","ANGPT2","ANK1","ANKLE2","ANKRD11","ANOS1","ANTXR1","AP1S2","APC2","AR","ARCN1","ARHGEF18","ARID1A","ARID1B","ARID2","ARL2BP","ARL3","ARL6","ARMC2","ARNT2","ARVCF","ARX","ASH1L","ASXL3","ATAD3A","ATM","ATN1","ATP6V0A2","ATP6V1A","ATP6V1E1","ATR","ATRX","ATXN8OS","AUTS2","AXL","B3GALNT2","B3GLCT","B4GALT7","B4GAT1","B9D1","B9D2","BAP1","BAZ1B","BBIP1","BBS1","BBS10","BBS12","BBS2","BBS4","BBS5","BBS7","BBS9","BCL10","BCL7B","BCOR","BDNF","BEST1","BICC1","BICRA","BIN1","BLM","BMP2","BMP4","BMP6","BPY2","BRAF","BRCA1","BRCA2","BRCC3","BRD4","BRDT","BRF1","BRIP1","BRWD3","BUB1B","BUD23","C14orf39","C2CD3","C4A","CA4","CACNA1G","CAMK2A","CAMSAP1","CARS1","CASZ1","CATIP","CATSPER1","CATSPER2","CBL","CBX2","CC2D2A","CCBE1","CCDC103","CCDC141","CCDC174","CCDC22","CCDC28B","CCDC32","CCDC34","CCDC39","CCDC40","CCDC65","CCNO","CCR1","CD96","CDC14A","CDC42","CDC42BPB","CDC45","CDC6","CDC73","CDCA7","CDH11","CDH2","CDH23","CDHR1","CDK8","CDKN1A","CDKN1B","CDKN1C","CDKN2A","CDKN2B","CDKN2C","CDON","CDT1","CDY1","CDY2A","CEP112","CEP120","CEP152","CEP19","CEP290","CERKL","CFAP221","CFAP251","CFAP298","CFAP300","CFAP410","CFAP418","CFAP43","CFAP45","CFAP47","CFAP58","CFAP65","CFAP69","CFAP70","CFAP74","CFAP91","CFTR","CHD4","CHD7","CHEK2","CHRM3","CHRNG","CHST14","CILK1","CISD2","CITED2","CKAP2L","CLCN3","CLCN4","CLDN2","CLIC2","CLIP2","CLP1","CLRN1","CNBP","CNGA1","CNGB1","COG1","COG5","COL3A1","COL4A1","COLEC10","COLEC11","COMT","COQ2","COX7B","CPE","CPLANE1","CPLX1","CRB1","CREBBP","CRPPA","CRX","CSPP1","CT55","CTBP1","CTC1","CTCF","CTDP1","CTNS","CUL4B","CUL7","CWC27","CYB5A","CYP11A1","CYP11B1","CYP17A1","CYP19A1","DACT1","DAG1","DAZ1","DAZ2","DAZ3","DAZ4","DBH","DCAF17","DCC","DDB2","DDX3X","DDX3Y","DDX59","DDX6","DGCR2","DGCR6","DGCR8","DHCR7","DHDDS","DHH","DHODH","DHX37","DHX38","DICER1","DIS3L2","DKC1","DLK1","DLL3","DLX4","DMPK","DMRT1","DMRT3","DMXL2","DNAAF1","DNAAF11","DNAAF2","DNAAF3","DNAAF4","DNAAF5","DNAAF6","DNAH1","DNAH10","DNAH11","DNAH17","DNAH2","DNAH5","DNAH7","DNAH8","DNAH9","DNAI1","DNAI2","DNAJB11","DNAJB13","DNAJC19","DNAJC21","DNAJC30","DNAJC6","DNAL1","DNALI1","DNHD1","DNM2","DNMT3A","DOK7","DPAGT1","DPF2","DPH2","DPP9","DPYSL5","DRC1","DSE","DTYMK","DUSP6","DVL1","DVL3","DYNC2H1","DYNC2I1","DYNC2I2","DYNC2LI1","DYRK1A","DZIP1","EBF3","EBP","EDEM3","EED","EFNB1","EHMT1","EIF2S3","EIF4H","EIF5A","ELN","EMG1","EP300","ERAP1","ERCC1","ERCC2","ERCC3","ERCC4","ERCC5","ERCC6","ERCC8","ESCO2","ESS2","EVC","EVC2","EWSR1","EXT2","EYS","EZH2","FAM111A","FAM149B1","FAM161A","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FARS2","FAS","FAT4","FBLN1","FBN1","FBXO43","FBXW7","FDFT1","FEZF1","FGD1","FGF10","FGF17","FGF8","FGFR1","FGFR2","FGFR3","FGFRL1","FIG4","FKBP6","FKRP","FKTN","FLG","FLI1","FLNA","FLNB","FLRT3","FLT4","FMR1","FOCAD","FOXA2","FOXJ1","FRAS1","FREM2","FSCN2","FSHB","FSIP2","FTO","FUZ","FXR1","FZD2","G6PC3","GABRD","GALC","GALT","GANAB","GAS2L2","GAS8","GATA1","GATA4","GATA5","GATA6","GBA1","GBA2","GCNA","GDF1","GDF6","GFM2","GJA1","GJA5","GJB3","GJB4","GJC2","GK","GLE1","GLI1","GLI2","GLI3","GMNN","GMPPB","GNAS","GNB2","GNRH1","GNRHR","GP1BB","GPC3","GPC4","GPC6","GPR101","GPR161","GRB10","GRIA2","GRIA3","GRIN2B","GRIP1","GSC","GTF2E2","GTF2H5","GTF2I","GTF2IRD1","GTF2IRD2","GUCA1B","GUCY1A1","H1-4","H19","H4C5","H4C9","HAMP","HBA1","HBA2","HBB","HCCS","HDAC4","HDAC8","HERC2","HES7","HESX1","HEXB","HFE","HGSNAT","HIBCH","HIRA","HJV","HLA-B","HMGA2","HNF1B","HNRNPH1","HNRNPK","HNRNPR","HOXD13","HPRT1","HPSE2","HRAS","HS2ST1","HS6ST1","HSD17B3","HSD3B2","HSFY1","HSPG2","HTRA2","HUWE1","HYDIN","HYLS1","HYMAI","IDH3A","IDH3B","IER3IP1","IFNGR1","IFT140","IFT172","IFT27","IFT74","IFT80","IFT88","IGBP1","IGF2","IL10","IL12A","IL12A-AS1","IL17RD","IL1RAPL1","IL23R","IMPDH1","IMPG1","IMPG2","INPPL1","INSL3","IRF4","IRF6","IRX5","JAG1","JAM3","JMJD1C","KANSL1","KAT5","KAT6A","KAT6B","KCNAB2","KCNJ6","KCNQ1","KCNQ1OT1","KCNU1","KDM1A","KDM3B","KDM5B","KDM5C","KDM5D","KDM6A","KDM6B","KDR","KDSR","KEAP1","KIAA0753","KIAA1549","KIF21A","KIF7","KISS1","KISS1R","KIT","KIZ","KLHL10","KLHL15","KLHL7","KLRC4","KMT2A","KMT2D","KMT2E","KMT5B","KRAS","LARGE1","LARP7","LAS1L","LEP","LEPR","LETM1","LFNG","LHB","LHCGR","LHX1","LHX4","LIG4","LIMK1","LMBR1","LMNA","LMNB1","LMNB2","LMOD1","LMX1B","LONP1","LRAT","LRIG2","LRRC56","LRRK2","LSS","LUZP1","LZTFL1","LZTR1","M1AP","MAD2L2","MADD","MAF","MAGEL2","MAK","MAMLD1","MAP2K1","MAP2K2","MAP3K1","MAP3K7","MAPK1","MAPRE2","MASP1","MBD5","MBTPS2","MC2R","MCIDAS","MCM5","MCM8","MCTP2","MDFIC","MDM2","MECOM","MECP2","MED11","MED12","MED13L","MEFV","MEG3","MEGF8","MEIOB","MEN1","MERTK","MESP2","METTL27","MID1","MINPP1","MKKS","MKRN3","MKS1","MLXIPL","MMP23B","MOGS","MOV10L1","MPLKIP","MRAP","MRAS","MRPS28","MSH4","MSH5","MTM1","MTMR14","MTOR","MUSK","MYF6","MYH11","MYH3","MYL11","MYLK","MYMK","MYOD1","MYRF","NAA10","NAF1","NALCN","NANOS1","NCF1","NDN","NDNF","NDP","NDUFB11","NDUFB7","NEDD4L","NEK10","NEK2","NELFA","NF1","NF2","NFIB","NFIX","NHLH2","NHP2","NIPBL","NKAP","NKX2-5","NKX2-6","NME5","NME8","NNT","NONO","NOP10","NOTCH2","NOTCH3","NPAP1","NPHP1","NPM1","NR0B1","NR2E3","NR3C1","NR5A1","NRAS","NRL","NSD1","NSD2","NSMF","NSUN2","NUP88","NXN","OCA2","OCRL","ODAD1","ODAD2","ODAD3","ODAD4","ODC1","OFD1","OGT","OPHN1","ORC1","ORC4","ORC6","OTUD5","OTUD6B","OTX2","PACS1","PACS2","PAICS","PALB2","PANX1","PARK7","PARN","PATL2","PAX2","PAX6","PAX7","PBX1","PCARE","PDE11A","PDE4D","PDE6A","PDE6B","PDE6D","PDE6G","PDGFB","PDHA2","PDPN","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PHACTR1","PHF6","PHF8","PHGDH","PHIP","PIEZO1","PIEZO2","PIGA","PIGG","PIGL","PIGN","PIGS","PIK3C2A","PIK3CA","PINK1","PKD1","PKD2","PLAG1","PLAGL1","PLVAP","PMFBP1","PMM2","PNLDC1","PNPLA6","POC1A","PODXL","POLA1","POLD1","POLE","POLG","POLR1B","POLR1C","POLR1D","POLR3A","POLR3K","POMGNT1","POMGNT2","POMK","POMT1","POMT2","POR","PORCN","POU1F1","POU3F3","PPFIBP1","PPP1CB","PPP1R12A","PPP1R15B","PQBP1","PRCD","PRDM13","PRDM16","PRIM1","PRKACA","PRKACB","PRKAR1A","PRKCZ","PRKN","PRMT7","PROK2","PROKR2","PROM1","PROP1","PRPF3","PRPF31","PRPF4","PRPF6","PRPF8","PRPH2","PRPS1","PRY","PRY2","PSMC1","PSMD12","PTCH1","PTCH2","PTDSS1","PTEN","PTPN11","PTPRF","PWAR1","PWRN1","PYCR1","RAB18","RAB23","RAB3GAP1","RAB3GAP2","RAC1","RAC3","RAD21","RAD51","RAD51C","RAF1","RAPSN","RARB","RASA2","RBM10","RBMX","RBMY1A1","RBP3","RDH12","RECQL4","REEP6","RERE","RFC2","RFWD3","RGR","RHO","RIN2","RIPK4","RIPPLY2","RIT1","RLBP1","RLIM","RNF113A","RNF135","RNF212","RNU4ATAC","ROBO1","ROM1","ROR2","RORA","RP1","RP1L1","RP2","RP9","RPE65","RPGR","RPGRIP1","RPGRIP1L","RPL10","RPL10L","RPS4Y2","RRAS","RRAS2","RREB1","RSPH1","RSPH3","RSPH4A","RSPH9","RSPO1","RSPO2","RTEL1","RTL1","RTN2","RTTN","RXYLT1","RYR1","SACS","SAG","SALL1","SAMD9","SATB2","SCAPER","SCLT1","SCP2","SCYL2","SDCCAG8","SEC23A","SEC24C","SEMA3A","SEMA3E","SEMA4A","SEPTIN12","SETBP1","SETD1A","SETD2","SETD5","SGPL1","SHOC1","SHOC2","SIAH1","SIM1","SIN3A","SIX6","SKI","SLC16A2","SLC18A3","SLC19A2","SLC25A10","SLC25A24","SLC26A2","SLC26A8","SLC29A3","SLC34A2","SLC35D1","SLC39A4","SLC40A1","SLC7A14","SLX4","SMAD4","SMARCA2","SMARCA4","SMARCAL1","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SMC1A","SMC3","SMCHD1","SMO","SMOC1","SMS","SNCA","SNORD115-1","SNORD116-1","SNRNP200","SNRPN","SOHLH1","SOS1","SOS2","SOX10","SOX11","SOX18","SOX2","SOX3","SOX4","SOX9","SPAG1","SPAG17","SPATA7","SPECC1L","SPEF2","SPEN","SPINK2","SPRED2","SPRY4","SRA1","SRCAP","SRD5A2","SRY","SSX1","STAC3","STAG1","STAG3","STAR","STAT4","STEAP3","STK11","STK36","STRA6","STRC","STS","STT3A","STT3B","STX1A","STXBP1","SUFU","SUN5","SUZ12","SYCE1","SYCP2","SYCP3","SYNE1","SYNJ1","TAC3","TACR3","TAF4B","TAF6","TARS1","TASP1","TBC1D20","TBCD","TBCE","TBCK","TBL1XR1","TBL2","TBX1","TBX22","TBX3","TCF12","TCF4","TCOF1","TCTN1","TCTN2","TCTN3","TDRD9","TEKT3","TERB1","TERB2","TERC","TERT","TEX11","TEX14","TEX15","TFAP2A","TFR2","TGDS","THOC2","THSD1","TIAM1","TINF2","TLR4","TMEM107","TMEM216","TMEM231","TMEM237","TMEM270","TMEM67","TMEM70","TMEM94","TNFRSF1A","TNRC6B","TOE1","TOGARAM1","TOPORS","TP53","TP63","TPM2","TRAF7","TRIM32","TRIP4","TRPM3","TRRAP","TSHB","TSPY1","TSPYL1","TSR2","TTC12","TTC21A","TTC29","TTC5","TTC8","TTR","TUB","TUBA1A","TUBB","TUBB8","TULP1","TWIST1","TWIST2","TXNDC15","TXNRD2","TYMS","UBA1","UBAC2","UBAP1","UBE2A","UBE2T","UBE4B","UBR1","UBR7","UCHL1","UFD1","UPF3B","UQCC2","USB1","USH2A","USP26","USP7","USP9Y","VAC14","VAMP7","VANGL1","VCY","VEGFC","VPS13B","VPS13C","VPS35L","VPS37D","VPS50","WDPCP","WDR11","WDR19","WDR35","WDR37","WDR62","WEE2","WFS1","WNT3","WNT4","WNT5A","WNT7A","WNT7B","WRAP53","WRN","WT1","WWOX","XKRY","XPA","XPC","XRCC2","XRCC4","XYLT2","YY1","ZBTB20","ZDHHC9","ZEB2","ZFPM2","ZMIZ1","ZMYM2","ZMYND10","ZMYND15","ZNF408","ZNF513","ZNF699","ZPR1","ZSWIM6","ZSWIM7"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_LABIA_MINORA_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M38211","pmid":"","exactSource":"HP:0012880","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012880","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LABIA_MINORA_MORPHOLOGY","geneSymbols":["ACTB","ATIC","CDC45","CDC6","CDT1","DVL1","DVL3","ESCO2","FGFR2","FZD2","GAD1","GMNN","HERC2","KAT6B","MAGEL2","MKRN3","NDN","NPAP1","OCA2","ORC1","ORC4","ORC6","POR","PWAR1","PWRN1","RAB18","RAB3GAP1","RAB3GAP2","SETBP1","SIM1","SNORD115-1","SNORD116-1","SNRPN","TBC1D20","TWIST2","WNT5A","ZFPM2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_LABIA_MAJORA_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M38212","pmid":"","exactSource":"HP:0012881","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012881","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LABIA_MAJORA_MORPHOLOGY","geneSymbols":["AR","B3GLCT","BRD4","CDC45","CDC6","CDT1","CHRNG","CTCF","DVL1","DVL3","ECEL1","ESR2","FGFR2","FIG4","FZD2","GAD1","GMNN","HDAC8","HSD3B2","IRF6","LIPE","MYH3","NIPBL","NR5A1","ORC1","ORC4","ORC6","PMM2","POR","PPP2R3C","RAB3GAP2","RAD21","RIPK4","ROR2","SETBP1","SLC25A24","SMC1A","SMC3","SMCHD1","TP63","TWIST2","UBE3B","VAC14","WNT5A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_UTERINE_CERVIX_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M38213","pmid":"","exactSource":"HP:0012888","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012888","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_UTERINE_CERVIX_MORPHOLOGY","geneSymbols":["AR","CDKN1B","COL1A1","COL3A1","COL5A1","COL5A2","CXCR4","FGFR3","GATA2","MAD1L1","PLG","SRY","STK11"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_MOTOR_EVOKED_POTENTIALS":{"collection":"C5:HPO","systematicName":"M43451","pmid":"","exactSource":"HP:0012896","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012896","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MOTOR_EVOKED_POTENTIALS","geneSymbols":["CPT1C","CYP27A1","GJC2","KPNA3","NEFL","RTN2","SACS","SLC33A1","STUB1","UBAP1","WASHC5"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_LOWER_LIMB_MOTOR_EVOKED_POTENTIALS":{"collection":"C5:HPO","systematicName":"M47222","pmid":"","exactSource":"HP:0012898","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012898","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LOWER_LIMB_MOTOR_EVOKED_POTENTIALS","geneSymbols":["CPT1C","KPNA3","RTN2","SLC33A1","UBAP1","WASHC5"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HANDGRIP_MYOTONIA":{"collection":"C5:HPO","systematicName":"M38215","pmid":"","exactSource":"HP:0012899","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012899","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HANDGRIP_MYOTONIA","geneSymbols":["ACTA1","CLCN1","CNBP","HINT1","PURA","SCN4A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_EURYBLEPHARON":{"collection":"C5:HPO","systematicName":"M38216","pmid":"","exactSource":"HP:0012905","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0012905","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EURYBLEPHARON","geneSymbols":["ACTB","ACTG1","CDH1","CTNND1","DLX4","DVL1","DVL3","FZD2","WNT5A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ESODEVIATION":{"collection":"C5:HPO","systematicName":"M38217","pmid":"","exactSource":"HP:0020045","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0020045","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ESODEVIATION","geneSymbols":["AARS1","ABCC9","ADAT3","ADGRG1","AGRN","AGTPBP1","AHCY","AHDC1","ALG12","ALG2","ALG9","AMMECR1","ANTXR1","AP1G1","APC","ARHGAP31","ARPC4","ASNS","ATAD3A","ATIC","ATOH7","ATP1A2","ATP1A3","B3GAT3","B9D1","BLOC1S3","BPTF","CACNA1A","CAMK2B","CARS1","CDC42BPB","CHAT","CHMP1A","CHST3","CLCN3","CLCN6","CLP1","COG1","COG8","COL11A1","COL12A1","COL13A1","COL25A1","COL4A2","COL6A1","COL6A2","COL6A3","COL8A2","CPLANE1","CRB1","CYB5A","CYB5R3","DDB1","DDOST","DDX59","DLAT","DLK1","DPM1","DPP6","DYRK1A","EBP","EMC1","ERCC2","ERCC3","EXOSC3","EXOSC5","EXOSC8","EXOSC9","FAM149B1","FBN1","FBXO28","FGF10","FOXP2","FRMD5","FZD4","GALC","GBA1","GJA5","GJA8","GLRB","GNA14","GNB1","GRHL2","GRID2","GRM1","GTF2E2","GTF2H5","H4C11","H4C3","HERC2","HMGB3","HOXB1","HPDL","HPS3","HUWE1","IARS2","IRF2BPL","KAT6A","KAT8","KCNMA1","KDM6B","KIAA0753","KIDINS220","KIF21A","KIF7","LAGE3","LGI4","LMBRD2","LMNB1","LRMDA","LRP5","LRPPRC","MADD","MAGEL2","MBD5","MECR","MED12","MEG3","MKRN3","MPDZ","MPLKIP","MYO9A","MYOD1","NALCN","NCDN","NEUROD2","NEXMIF","NPAP1","NR2F1","NSD1","NTNG2","OFD1","OVOL2","PAK1","PCDHGC4","PDE4D","PDE6D","PEX12","PEX5","PGAP2","PGAP3","PHGDH","PHOX2A","PI4KA","PIDD1","PIGL","PIGN","PIGO","PIGT","PIGV","PIGW","PIGY","PIK3R1","PLPBP","PMM2","POLA1","POLG","POU4F1","PPP1R21","PPP2R5D","PRKAR1B","PTEN","PUF60","PURA","PUS7","PWAR1","PWRN1","PYCR2","RERE","RNASEH1","RNF113A","ROBO3","RORA","RRAS2","RRM2B","RTL1","SALL2","SATB2","SCN4A","SCN8A","SEC23A","SIAH1","SLC12A6","SLC18A3","SLC1A3","SLC25A1","SLC25A46","SLC35C1","SLC38A8","SLC5A7","SNAP25","SNORD115-1","SNORD116-1","SOBP","SON","SOST","SREBF1","SYT1","SYT2","TARS1","TBC1D23","TBC1D2B","TBX1","TCTN3","TELO2","TENM3","TMEM216","TMEM222","TOPORS","TRIT1","TUBA1A","TUBB2B","TUBB3","UFC1","UFSP2","UNC80","USP7","VAMP1","VPS50","VRK1","VSX1","WDR45","ZEB1","ZEB2","ZNF408","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_MYELOID_CELL_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M43452","pmid":"","exactSource":"HP:0020047","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0020047","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MYELOID_CELL_MORPHOLOGY","geneSymbols":["CDIN1","DDX41","KIF23","MYSM1","RACGAP1","SLC19A1","UBA1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_EXODEVIATION":{"collection":"C5:HPO","systematicName":"M38218","pmid":"","exactSource":"HP:0020049","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0020049","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EXODEVIATION","geneSymbols":["ACADSB","ADARB1","ADD3","ADGRG1","ADNP","AFF4","AIMP1","ALDH3A2","ARPC4","ATP13A2","ATP1A2","ATP1A3","ATRX","BCOR","BCORL1","BLOC1S3","CACNA1A","CACNA1F","CDC42","CDH11","COL25A1","COL4A1","CRB1","CRIPT","DNMBP","DPAGT1","DYRK1A","EFNB1","EXOC8","FBN1","FBXW11","FGF10","FGFR2","FGFR3","GALNT2","GJA5","GJA8","GMPPA","GNB1","GNB2","GRIA1","H4C5","HACE1","HADHA","HMX1","HNRNPH2","HPDL","IFT27","KDM1A","KDM6B","KIF21A","LCA5","LRAT","LRMDA","LYRM7","MADD","MC1R","MRPS2","MRPS34","MTRFR","MYF5","NEDD4L","NGLY1","NMNAT1","NONO","NR2F1","OCA2","P4HTM","PAX6","PCDHGC4","PGM2L1","PHOX2A","POGZ","POLRMT","PRPS1","PRR12","PTRH2","PUF60","PYCR2","PYROXD1","RERE","RNF2","RP1L1","RPE65","RPL10","SALL2","SCO2","SIAH1","SLC17A5","SLC1A3","SLC25A46","SLC35A2","SLC6A8","SMAD3","SNRPN","SON","SOX5","SPATA5","SPATA7","TAF2","TBX1","TGFBR1","TGFBR2","THOC2","TMEM231","TMEM67","TRAPPC11","TRPM3","TUBA1A","TUBB2B","TUBB3","TYR","UBE3A","UFSP2","WARS2","WDR11","WDR45","WT1","ZC4H2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_ERYTHROCYTE_PHYSIOLOGY":{"collection":"C5:HPO","systematicName":"M38219","pmid":"","exactSource":"HP:0020054","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0020054","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ERYTHROCYTE_PHYSIOLOGY","geneSymbols":["ANK1","EPB41","EPB42","GYPC","HBB","KCNN4","PIEZO1","PKLR","RHAG","RHCE","RHD","SLC4A1","SLC4A4","SPTA1","SPTB"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_HEMOGLOBIN_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M41472","pmid":"","exactSource":"HP:0020061","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0020061","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_HEMOGLOBIN_CONCENTRATION","geneSymbols":["AMN","CUBN","KCNN4","KLF1","MADD","PGK1","PIEZO1","PKLR","SLC4A1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PERSISTENT_EBV_VIREMIA":{"collection":"C5:HPO","systematicName":"M41473","pmid":"","exactSource":"HP:0020072","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0020072","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERSISTENT_EBV_VIREMIA","geneSymbols":["CD27","DEF6","IKZF3","ITK","LAT","MAGT1","PGM3","PIK3R1","PRKCD","STK4","TET2","TNFRSF9","TOM1","TRAC"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPOPIGMENTED_MACULE":{"collection":"C5:HPO","systematicName":"M38220","pmid":"","exactSource":"HP:0020073","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0020073","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPIGMENTED_MACULE","geneSymbols":["ABCB6","ANKLE2","CDKN1A","CDKN1B","CDKN2B","CDKN2C","DNAJC21","ENPP1","EPHB4","FANCC","GPNMB","IFNG","KRT14","KRT5","MEN1","NF1","NONO","PLEC","POFUT1","POGLUT1","PSENEN","RASA1","SASH1","SPECC1L","TSC1","TSC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ERYTHROCYTE_INCLUSION_BODIES":{"collection":"C5:HPO","systematicName":"M38221","pmid":"","exactSource":"HP:0020080","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0020080","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ERYTHROCYTE_INCLUSION_BODIES","geneSymbols":["CASK","FADD","G6PD","GPX1","HBA1","HBA2","HBB","PUS1","RPSA","STIM1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HEINZ_BODIES":{"collection":"C5:HPO","systematicName":"M38222","pmid":"","exactSource":"HP:0020082","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0020082","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEINZ_BODIES","geneSymbols":["CASK","G6PD","GPX1","HBA1","HBA2","HBB"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INFECTION_FOLLOWING_LIVE_VACCINATION":{"collection":"C5:HPO","systematicName":"M45459","pmid":"","exactSource":"HP:0020085","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0020085","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INFECTION_FOLLOWING_LIVE_VACCINATION","geneSymbols":["CORO1A","CYBB","DCLRE1C","FCGR3A","IFNAR1","IFNAR2","IFNG","IL12B","IL12RB1","IRF8","ORAI1","REL","RORC","SPPL2A","STAT1","STAT2","TBX21","TCF3","ZNFX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BCGITIS":{"collection":"C5:HPO","systematicName":"M46242","pmid":"","exactSource":"HP:0020086","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0020086","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BCGITIS","geneSymbols":["DCLRE1C","FCGR3A","IL12B","IRF8","ORAI1","SPPL2A","STAT1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BCGOSIS":{"collection":"C5:HPO","systematicName":"M45460","pmid":"","exactSource":"HP:0020087","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0020087","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BCGOSIS","geneSymbols":["CYBB","IFNG","IL12RB1","REL","RORC","TBX21","ZNFX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RECURRENT_STREPTOCOCCAL_INFECTIONS":{"collection":"C5:HPO","systematicName":"M45461","pmid":"","exactSource":"HP:0020096","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0020096","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_STREPTOCOCCAL_INFECTIONS","geneSymbols":["CFI","IGHG2","IGKC","IRAK4","LYST"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_UNUSUAL_FUNGAL_INFECTION":{"collection":"C5:HPO","systematicName":"M41474","pmid":"","exactSource":"HP:0020100","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0020100","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UNUSUAL_FUNGAL_INFECTION","geneSymbols":["ADA","AIRE","AP3B1","ATR","ATRX","BRAF","BTD","C1QB","CARD11","CARD9","CARMIL2","CD247","CD3D","CD3E","CD3G","CD40LG","CDH23","CEACAM3","CEACAM6","CFTR","CIITA","CLCA4","CLEC7A","CORO1A","CTLA4","CYBA","CYBB","CYBC1","DCLRE1C","DCTN4","DEF6","DOCK2","DOCK8","EDNRA","EPG5","GATA2","GCLC","GJB2","GJB6","GSTM3","HFE","HMOX1","HPGD","IKBKB","IKBKG","IKZF1","IL12A","IL12RB1","IL17F","IL17RA","IL17RC","IL21R","IL2RA","IL2RG","IL6ST","IL7R","IRF5","ITGB2","JAK3","KCNN4","KNSTRN","KRT1","LCK","MIF","MMEL1","MVK","NCF1","NCF2","NFKB2","NFKBIA","NR3C1","PGM3","PIK3CD","PLCG2","POU2AF1","RAG1","RAG2","RFX5","RFXANK","RFXAP","RORC","SDR9C7","SERPINA1","SLC11A1","SLC26A9","SLC39A4","SLC6A14","SLC9A3","SP110","SPIB","SREBF1","STAT1","STAT3","STK4","STX1A","TFRC","TGFB1","TLR8","TNFSF15","TNPO3","TOM1","TP53","TRAC","TRAF3IP2","TYK2","USP48","USP8","WDR1","ZAP70","ZBTB24","ZNF341"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PNEUMOCYSTIS_JIROVECII_PNEUMONIA":{"collection":"C5:HPO","systematicName":"M47223","pmid":"","exactSource":"HP:0020102","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0020102","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PNEUMOCYSTIS_JIROVECII_PNEUMONIA","geneSymbols":["CARD11","IKBKG","IL21R","TLR8","ZBTB24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BONE_FRACTURE":{"collection":"C5:HPO","systematicName":"M41475","pmid":"","exactSource":"HP:0020110","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0020110","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BONE_FRACTURE","geneSymbols":["ANAPC1","ATL3","CLCN7","EXT1","EXT2","FGF23","GALT","GNAS","LBR","MOGS","MTAP","SLC2A2","SQSTM1","TAPT1","TBCD","TNFRSF11A","TRPV6","UBA1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPOPLASTIC_DERMOEPIDERMAL_HEMIDESMOSOMES":{"collection":"C5:HPO","systematicName":"M41476","pmid":"","exactSource":"HP:0020117","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0020117","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASTIC_DERMOEPIDERMAL_HEMIDESMOSOMES","geneSymbols":["COL17A1","ITGA6","ITGB4","LAMA3","LAMB3","LAMC2","PLEC"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_RETINAL_NERVE_FIBER_LAYER_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M47224","pmid":"","exactSource":"HP:0020119","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0020119","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RETINAL_NERVE_FIBER_LAYER_MORPHOLOGY","geneSymbols":["CYP27A1","DNAJC30","OPA1","PDGFRB","SACS"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_URINE_PROTEIN_LEVEL":{"collection":"C5:HPO","systematicName":"M38223","pmid":"","exactSource":"HP:0020129","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0020129","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_URINE_PROTEIN_LEVEL","geneSymbols":["ABCC8","ACP5","ACSL4","ACTN4","ADAMTS13","ALG5","ALG9","AMMECR1","AMN","ANKFY1","ANLN","APOA1","APOE","APOL1","APRT","ARHGAP24","ARHGDIA","ATP7B","B2M","BANK1","BAZ1B","BCL7B","BICC1","BLK","BUD23","C3","C4A","C4B","CD2AP","CD46","CD81","CFB","CFH","CFI","CLCN5","CLCNKB","CLIP2","COA8","COL4A3","COL4A4","COL4A5","COL4A6","COQ2","COQ6","COQ8B","CORIN","CR2","CRB2","CTLA4","CTNS","CUBN","DAAM2","DDOST","DGKE","DLST","DNAJB11","DNAJC30","DNASE1","DNASE1L3","DNASE2","DNMT3A","DPH1","EHHADH","EIF4H","ELN","EMP2","EPAS1","ERCC4","ERCC6","ERCC8","ETS1","EXT2","FAN1","FCGR2B","FCGR3B","FGA","FH","FKBP6","FLT1","FN1","FOXC2","G6PC1","GALT","GANAB","GAPVD1","GATA3","GATM","GBA1","GCK","GLA","GON7","GSN","GTF2I","GTF2IRD1","GTF2IRD2","HELLPAR","HLA-DPA1","HLA-DPB1","HLA-DRB1","HMOX1","HNF1B","HNF4A","IER3IP1","IFT140","IFT172","IGHG1","IL10","INF2","INS","IRAK1","IRF5","ITGA3","ITGA8","ITGAM","JAZF1","KANK2","KARS1","KCNE5","KCNJ11","KIAA0319L","KIF1B","KIRREL1","LAGE3","LAMB2","LCAT","LIMK1","LMNB2","LMX1B","LPIN2","LRP2","LYZ","MAF","MAFB","MAGI2","MAX","MDH2","MECP2","MED12","MEFV","METTL27","MIA3","MLXIPL","MMACHC","MT-CO1","MT-CO2","MT-CO3","MT-ND1","MT-ND4","MT-ND5","MT-ND6","MT-TE","MT-TF","MT-TH","MT-TK","MT-TL1","MT-TN","MT-TQ","MT-TS1","MT-TS2","MT-TW","MTX2","MYH9","MYO1E","NCF1","NDUFAF6","NEU1","NF1","NIPBL","NOS1AP","NOS3","NOTCH2","NPHP3","NPHS1","NPHS2","NUP107","NUP133","NUP160","NUP205","NUP37","NUP85","NUP93","OCRL","OFD1","OSGEP","PAX2","PBX1","PDCD1","PDSS2","PDX1","PEX1","PIGA","PKD1","PKD2","PLCE1","PMM2","PRDX1","PRODH","PRTN3","PSTPIP1","PTPN22","PTPRO","PUS3","PXK","PYGL","REN","RET","RFC2","RNU7-1","SAA1","SARS2","SAT1","SCARB2","SDHA","SDHAF2","SDHB","SDHC","SDHD","SGPL1","SH2B1","SLC12A3","SLC22A12","SLC25A11","SLC2A2","SLC2A9","SLC34A1","SLC35A1","SLC37A4","SLC7A7","SMARCAL1","SNAP29","SPP1","SPRY2","STAT2","STAT3","STAT4","STOX1","STX1A","SURF1","TBC1D8B","TBL2","THBD","TLR7","TMEM127","TMEM270","TNFAIP3","TNFSF4","TNIP1","TP53RK","TPRKB","TREX1","TRIM8","TRPC6","UBE2L3","UNC45A","VHL","VIPAS39","VPS33A","VPS33B","VPS37D","VPS50","WDR19","WDR4","WDR73","WT1","YRDC","ZAP70"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_TUBULAR_BASEMENT_MEMBRANE_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M45462","pmid":"","exactSource":"HP:0020131","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0020131","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_TUBULAR_BASEMENT_MEMBRANE_MORPHOLOGY","geneSymbols":["DCDC2","MUC1","NPHP1","TMEM67","XPNPEP3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DISTAL_JOINT_LAXITY":{"collection":"C5:HPO","systematicName":"M38224","pmid":"","exactSource":"HP:0020152","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0020152","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DISTAL_JOINT_LAXITY","geneSymbols":["ALG2","COL12A1","COL13A1","COL6A1","COL6A2","COL6A3","COMP","PLOD1","PYROXD1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_OOCYTE_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M45463","pmid":"","exactSource":"HP:0020155","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0020155","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_OOCYTE_MORPHOLOGY","geneSymbols":["PANX1","PATL2","TUBB8","WEE2","ZP2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_REDUCED_HAPTOGLOBIN_LEVEL":{"collection":"C5:HPO","systematicName":"M47225","pmid":"","exactSource":"HP:0020181","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0020181","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_HAPTOGLOBIN_LEVEL","geneSymbols":["ABCG8","ALDOA","CBLIF","GATA1","KIF23","KLF1","PIGA","PKLR","RHAG","RHCE","RHD","SLC2A1","UROS","XK"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_SARCOMERE_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M38225","pmid":"","exactSource":"HP:0020201","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0020201","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SARCOMERE_MORPHOLOGY","geneSymbols":["ACTN2","ANO5","DES","FXR1","KY","LAMA2","LMOD2","NOTCH2NLC","RYR1","SQSTM1","TNNT1","TTN","UNC45B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_Z_DISC_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M43454","pmid":"","exactSource":"HP:0020202","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0020202","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_Z_DISC_MORPHOLOGY","geneSymbols":["ACTN2","DES","FXR1","KY","LMOD2","SQSTM1","TNNT1","UNC45B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SIMPLE_EAR":{"collection":"C5:HPO","systematicName":"M43455","pmid":"","exactSource":"HP:0020206","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0020206","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SIMPLE_EAR","geneSymbols":["ASNS","BICRA","CAPN15","CCDC47","CREBBP","DDB1","DHX16","EP300","EXOC2","GJA5","GJA8","GRIP1","GSC","MED12","NANS","NSRP1","POR","SH3PXD2B","SMARCD2","WDR35","YY1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_REFLEX_SEIZURE":{"collection":"C5:HPO","systematicName":"M41477","pmid":"","exactSource":"HP:0020207","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0020207","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REFLEX_SEIZURE","geneSymbols":["CACNB4","CHD2","CILK1","CLCN2","CPA6","EFHC1","GABRA1","GABRD","GABRG2","JRK","KCNQ3","KCTD7","PCDH19","SCN1A","SCN1B","SCN2A","SCN9A","SLC9A6","SYNGAP1","TUBA1A","TUBB2B","TUBB3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_VISUALLY_INDUCED_SEIZURE":{"collection":"C5:HPO","systematicName":"M46243","pmid":"","exactSource":"HP:0020216","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0020216","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VISUALLY_INDUCED_SEIZURE","geneSymbols":["CACNB4","CHD2","CILK1","CLCN2","CPA6","EFHC1","GABRA1","GABRD","GABRG2","JRK","KCNQ3","KCTD7","PCDH19","SCN1A","SCN1B","SCN2A","SCN9A","SLC9A6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MOTOR_SEIZURE":{"collection":"C5:HPO","systematicName":"M38226","pmid":"","exactSource":"HP:0020219","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0020219","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MOTOR_SEIZURE","geneSymbols":["AARS1","ABCC8","ACSF3","ACTL6B","ADAM22","ADGRG1","ADGRV1","ADNP","AFG3L2","AKT3","ALDH4A1","ALDH5A1","ALDH7A1","ALG13","ALG14","ALG2","AP2M1","AP3D1","APC2","ARFGEF1","ARHGEF9","ARX","ASAH1","ASNS","ASPA","ATAD1","ATP1A2","ATP1A3","ATP2B1","ATP5F1A","ATP5F1D","ATP5F1E","ATP5MK","ATP6AP2","ATP6V0A1","ATP6V1A","ATP7A","ATPAF1","ATPAF2","ATXN10","BRAT1","BTD","BUB1B","CABP4","CACNA1A","CACNA1B","CACNA1C","CACNA1D","CACNA2D1","CACNB4","CAMK2A","CAMK2B","CAMTA1","CARS2","CASK","CDC40","CDH2","CDK19","CDKL5","CELF2","CENPE","CEP85L","CHD2","CHD3","CHRNA2","CHRNA4","CHRNB2","CIC","CILK1","CLCN2","CLCN3","CLCN4","CLN3","CLN5","CLN8","CLPB","CNPY3","COG2","COL18A1","COQ5","COQ8A","COX11","COX4I1","COX8A","CPLX1","CRH","CSNK2A1","CSNK2B","CTNNA2","CTSD","CUL3","CUX2","D2HGDH","DALRD3","DCX","DENND5A","DEPDC5","DHDDS","DHFR","DHX16","DHX37","DMXL2","DNAJC5","DNM1","DNM1L","DOCK7","DOHH","DOLK","DPAGT1","DPH5","DPM1","DPM2","DPYD","DYRK1A","EEF1A2","EFHC1","EHMT1","ELOVL4","EN1","EPM2A","ERCC5","ERMARD","EXOC7","EXOC8","EXOSC5","EXTL3","FAR1","FARS2","FBLN1","FBXO28","FGF12","FRRS1L","FZR1","GABBR2","GABRA1","GABRA3","GABRA5","GABRB3","GABRD","GABRG2","GAD1","GALC","GAMT","GBA1","GCDH","GCK","GLB1","GLYCTK","GM2A","GNAO1","GNB1","GNB2","GOLGA2","GOSR2","GPAA1","GPHN","GRIA2","GRIA3","GRIK2","GRIN1","GRIN2A","GRIN2B","GRM7","GRN","GUF1","HACE1","HCFC1","HCN1","HCN2","HCN4","HDAC4","HEXB","HIBCH","HID1","HK1","HNRNPU","HYMAI","IER3IP1","IFNG","INS","IQSEC2","IREB2","JRK","KANSL1","KARS1","KCNA1","KCNA2","KCNB1","KCNC1","KCNC2","KCNJ11","KCNK4","KCNMA1","KCNQ2","KCNQ3","KCNQ5","KCNT1","KCNT2","KCTD7","KDM4B","KDM5C","KIF11","KIF1A","KIF5A","KIF5C","KNSTRN","LAMC3","LGI1","LMNB2","LNPK","LONP1","MACF1","MAPK1","MAPK10","MAST3","MBOAT7","MDH2","MECP2","MED11","MED13","MFF","MFSD8","MGAT2","MICAL1","MICOS13","MMACHC","MT-ATP6","MT-ATP8","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND5","MT-ND6","MT-RNR1","MT-TF","MT-TH","MT-TI","MT-TK","MT-TL1","MT-TP","MT-TQ","MT-TS1","MT-TS2","MT-TV","MT-TW","MTHFR","MTHFS","MTOR","NACC1","NAPB","NARS1","NAXD","NAXE","NBEA","NCDN","NDE1","NDUFA1","NDUFA2","NDUFAF3","NDUFAF6","NDUFAF8","NDUFV1","NECAP1","NEDD4L","NEU1","NEUROD2","NEXMIF","NGLY1","NHLRC1","NPRL2","NPRL3","NR4A2","NSD1","NSF","NTNG1","NTRK2","NUS1","OGDHL","OPHN1","PACS2","PAFAH1B1","PCDH12","PCDH19","PCYT2","PDHA1","PDX1","PEX3","PGAP2","PGAP3","PHACTR1","PHGDH","PI4KA","PIGA","PIGL","PIGM","PIGP","PIGQ","PIGT","PIGW","PIK3CA","PIK3CD","PLAGL1","PLCB1","PLPBP","PNKP","POLG","POMK","POU4F1","PPFIBP1","PPIL1","PPP1R21","PPP3CA","PRDM8","PRICKLE1","PRMT7","PRRT2","PRUNE1","PSAP","PSAT1","PTEN","PTPN23","PTRH2","PURA","PYCR2","RAB18","RALGAPA1","RBL2","RELN","RFX7","RNF13","RNU4ATAC","ROGDI","RPL10","RTN4IP1","RUSC2","SAMD12","SATB1","SCN1A","SCN1B","SCN2A","SCN3A","SCN8A","SCN9A","SDHA","SDHAF1","SDHB","SDHD","SEPSECS","SETBP1","SETD1B","SETD2","SIK1","SLC12A5","SLC19A3","SLC1A2","SLC1A3","SLC1A4","SLC25A10","SLC25A12","SLC25A15","SLC25A22","SLC2A1","SLC32A1","SLC35A2","SLC35A3","SLC38A3","SLC6A1","SLC6A19","SLC9A6","SMARCA2","SMARCAL1","SMC1A","SMS","SNORD118","SPATA5","SPATA5L1","SPTAN1","SPTBN1","SQOR","SRPX2","ST3GAL3","STAMBP","STAT3","STRADA","STX1B","STXBP1","SUCLA2","SYNGAP1","SYNJ1","SZT2","TANGO2","TBC1D24","TBCD","TBL1XR1","TGFB1","TIMM50","TMEM147","TMEM231","TMX2","TPK1","TRAPPC12","TRAPPC9","TRIM8","TRIT1","TRPM3","TSC1","TSC2","TSEN15","TSEN2","TSEN34","TSEN54","TUBA1A","TUBA8","TUBB2A","TUBB2B","TUBB3","TUBG1","UBA5","UBE3A","UFC1","UFSP2","UGDH","VPS50","VPS53","WDR45","WDR45B","YWHAG","ZNF526","ZNHIT3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CLONIC_SEIZURE":{"collection":"C5:HPO","systematicName":"M38227","pmid":"","exactSource":"HP:0020221","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0020221","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CLONIC_SEIZURE","geneSymbols":["ACSF3","ADAM22","ALDH7A1","ARX","ASNS","ATP1A2","ATP1A3","ATP6V0A1","ATP6V1A","CACNA2D1","CASK","CDKL5","COX11","CUX2","DENND5A","DMXL2","DNM1","DPM2","FRRS1L","FZR1","GABBR2","GABRA1","GABRG2","GLYCTK","GNAO1","GNB1","GRIA2","GRIK2","GRIN1","GRIN2A","GRM7","HCN1","KANSL1","KCNA1","KCNK4","KCNQ2","KCNQ3","KCNT1","KIF5A","KIF5C","LGI1","MICAL1","NAPB","NEUROD2","PACS2","PCDH12","PCDH19","PEX3","PIGA","PIGP","PIGQ","PLCB1","PLPBP","PNKP","PRRT2","PSAP","RELN","SATB1","SCN1A","SCN1B","SCN2A","SCN3A","SCN8A","SCN9A","SIK1","SLC12A5","SLC25A22","SLC32A1","SMARCAL1","SPTBN1","SRPX2","ST3GAL3","TBC1D24","TPK1","TRIM8","UFSP2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DECEREBRATE_RIGIDITY":{"collection":"C5:HPO","systematicName":"M43456","pmid":"","exactSource":"HP:0025013","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025013","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECEREBRATE_RIGIDITY","geneSymbols":["ARSA","ASPA","GALC","GLB1","PSAP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_VASCULAR_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M38228","pmid":"","exactSource":"HP:0025015","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025015","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_VASCULAR_MORPHOLOGY","geneSymbols":["AASS","ABCA1","ABCC6","ABCC9","ABCD4","ABCG5","ABCG8","ABL1","ACAD9","ACP5","ACSL4","ACTA1","ACTA2","ACTB","ACTC1","ACTG1","ACVR2B","ACVRL1","ADA2","ADAMTS10","ADAMTS13","ADAMTS19","ADAMTS3","ADAMTSL1","ADAR","ADAT3","ADH5","ADK","AEBP1","AFF4","AGGF1","AGO2","AGPAT2","AGXT","AIRE","AKT1","ALB","ALDH18A1","ALDH1A2","ALG12","ALG2","ALG3","ALG5","ALG8","ALG9","ALMS1","ALOX5AP","ALPL","ALX1","ALX3","ALX4","AMACR","AMER1","AMMECR1","ANAPC7","ANGPT2","ANGPTL6","ANK1","ANKS6","ANTXR1","APC2","APOA1","APOA2","APOA5","APOB","APOE","APP","ARF1","ARFGEF2","ARHGAP31","ARID1A","ARID1B","ARID2","ARL6IP6","ARPC1B","ARSL","ARVCF","ARX","ASAH1","ASCC1","ASS1","ASXL2","ATN1","ATP2B1","ATP6V0A2","ATP6V1A","ATP6V1B2","ATP6V1E1","ATP7A","ATRX","B2M","B3GALT6","B3GAT3","B3GLCT","BANF1","BAP1","BAZ1B","BCL11B","BCL7B","BCOR","BCR","BEST1","BGN","BICC1","BICD2","BICRA","BMP2","BMPR1A","BMPR2","BPTF","BRAF","BRCA1","BRCA2","BRCC3","BRF1","BRIP1","BSCL2","BUB1","BUB1B","BUB3","BUD23","C12orf57","C1QB","C1R","C1S","C2CD3","C4A","CACNA1C","CACNA1D","CADM3","CALM3","CALR","CARS1","CASP10","CASZ1","CAT","CAV1","CAVIN1","CBL","CBS","CCBE1","CCDC103","CCDC22","CCDC39","CCDC40","CCDC47","CCDC65","CCDC8","CCM2","CCND1","CCNO","CCNQ","CCR1","CD109","CD19","CD244","CD46","CD55","CD81","CD96","CDC42","CDC42BPB","CDH2","CDH23","CDK8","CDON","CELA2A","CELSR1","CEP120","CEP19","CEP57","CETP","CFAP221","CFAP298","CFAP300","CFAP53","CFAP74","CFC1","CFH","CFI","CHD4","CHD7","CHMP2B","CHRM3","CHRNG","CHST3","CHUK","CIITA","CIROP","CITED2","CLCN2","CLCN3","CLCN7","CLCNKB","CLIP2","CLN6","CLN8","CNTN1","COA6","COG4","COG6","COL18A1","COL1A1","COL1A2","COL3A1","COL4A1","COL4A2","COL5A1","COL5A2","COLGALT1","COMT","COQ4","COX7B","CPLANE1","CPS1","CPT2","CR2","CRB2","CREBBP","CRELD1","CRKL","CRTAP","CSF2RA","CSF2RB","CSGALNACT1","CST3","CTC1","CTCF","CTLA4","CTSA","CTSD","CTU2","CUL7","CUX1","CWC27","CXCR2","CXCR4","CYP11B1","CYP11B2","CYP1B1","CYP26C1","CYP27A1","CYP7A1","DACT1","DARS1","DCDC2","DCX","DDX11","DDX3X","DDX59","DDX6","DGCR2","DGCR6","DGCR8","DHCR24","DHCR7","DHPS","DIAPH1","DIS3L2","DISP1","DLK1","DLL1","DLL3","DLL4","DLST","DMPK","DNAAF1","DNAAF11","DNAAF2","DNAAF3","DNAAF4","DNAAF5","DNAAF6","DNAH1","DNAH11","DNAH5","DNAH9","DNAI1","DNAI2","DNAJB11","DNAJB13","DNAJC30","DNAJC5","DNAL1","DNASE1L3","DNM2","DNMT3A","DOCK6","DOCK8","DOHH","DPAGT1","DPF2","DPH5","DPM1","DPM3","DPYSL5","DRC1","DTNA","DVL3","DYNC2LI1","DYRK1A","DYRK1B","ECE1","EDN1","EED","EFEMP1","EFEMP2","EGFR","EHMT1","EIF2AK3","EIF2AK4","EIF4H","ELN","EMILIN1","ENG","ENPP1","EOGT","EP300","EPAS1","EPHB4","EPHX2","EPOR","ERAP1","ERCC2","ERCC3","ERCC4","ERCC5","ERCC6","ERCC8","ERMARD","ESCO2","ESR1","ESS2","EXT1","EXT2","EZH2","F10","F12","F13A1","F13B","F2","F5","F7","F8","FADD","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FARSB","FAS","FASLG","FAT4","FBLN5","FBN1","FBN2","FCGR2C","FGA","FGB","FGF10","FGF8","FGFR1","FGFR2","FGFR3","FGG","FH","FHOD3","FIBP","FIG4","FKBP14","FKBP6","FKTN","FLI1","FLNA","FLNB","FLNC","FLT4","FMR1","FN1","FOCAD","FOS","FOXC1","FOXC2","FOXE1","FOXE3","FOXF1","FOXH1","FOXJ1","FOXP2","FRA10AC1","FTO","FUCA1","FUT8","FZD4","G6PC3","GAA","GABRD","GALC","GALNT3","GANAB","GAS1","GAS2L2","GAS8","GATA1","GATA2","GATA4","GATA5","GATA6","GBA1","GCDH","GDF1","GDF2","GEMIN4","GGCX","GHR","GJA1","GJA5","GJA8","GJC2","GLA","GLB1","GLI2","GLI3","GLMN","GLYCTK","GM2A","GMPPB","GNA11","GNAI3","GNAQ","GNB2","GNPAT","GP1BA","GP1BB","GPC3","GPC4","GPC6","GPIHBP1","GPR35","GRN","GTF2I","GTF2IRD1","GTF2IRD2","GUCY1A1","GUSB","GYS1","H3-3A","H4C9","HABP2","HACD1","HADHB","HBB","HCCS","HCK","HDAC4","HEATR3","HELLPAR","HES7","HEXA","HEXB","HEY2","HGD","HIBCH","HIRA","HLA-B","HLA-DPA1","HLA-DPB1","HLA-DRB1","HNRNPK","HOXA1","HPGD","HRAS","HSD11B2","HSPG2","HTRA1","HTRA2","HYDIN","HYMAI","HYOU1","ICOS","IDH1","IDS","IFIH1","IFNG","IFNGR1","IFT140","IFT27","IFT43","IGBP1","IGF2","IGFBP7","IKBKG","IL10","IL12A","IL12A-AS1","IL12B","IL12RB1","IL23R","IL6","IL6ST","INTU","IPO8","IRF2BP2","ITGA2","ITGA2B","ITGB3","ITPR1","IVD","JAG1","JAK2","JMJD1C","KANSL1","KAT6A","KAT6B","KAT8","KCNAB2","KCNE5","KCNH1","KCNJ5","KCNJ8","KCNN3","KCNQ2","KCNT1","KDM3B","KDM6A","KDR","KIF1B","KIF20A","KIF5A","KLRC4","KMT2A","KMT2B","KMT2D","KMT5B","KNSTRN","KRAS","KRIT1","KYNU","LARS2","LCAT","LDLR","LDLRAP1","LEMD2","LFNG","LIFR","LIG3","LIMK1","LIPA","LIPC","LMAN1","LMBRD1","LMNA","LMOD2","LMX1B","LOX","LPL","LRP5","LRP6","LRPPRC","LRRC56","LSM11","LTBP1","LTBP4","LUZP1","LZTR1","MAD2L2","MAF","MAP1B","MAP2K1","MAP3K7","MAPK1","MAPKAPK5","MAPT","MARS2","MASP1","MAT2A","MAX","MCCC1","MCCC2","MCFD2","MCIDAS","MCTP2","MDH2","MECP2","MED11","MED12","MED13L","MED25","MEF2A","MEFV","MEG3","MEGF8","MEIS2","MESP2","METTL27","MFAP5","MGAT2","MGP","MID1","MINPP1","MKKS","MKS1","MLX","MLXIPL","MMACHC","MMP14","MMP2","MMP21","MMP23B","MMUT","MNX1","MPI","MPL","MRAS","MRPS16","MS4A1","MST1","MSX2","MT-ATP6","MT-CO1","MT-CO2","MT-CO3","MT-CYB","MT-ND1","MT-ND2","MT-ND4","MT-ND4L","MT-ND5","MT-ND6","MT-TC","MT-TF","MT-TH","MT-TK","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TV","MT-TW","MTHFR","MVK","MYBPC3","MYCN","MYD88","MYH11","MYH3","MYH6","MYH7","MYLK","MYOC","MYOCD","MYPN","MYRF","NAA10","NAA20","NADSYN1","NAE1","NAGA","NAGS","NCAPG2","NCF1","NDE1","NDP","NDUFA8","NDUFB11","NEDD4L","NEK1","NEK10","NEK8","NEK9","NEU1","NF1","NF2","NFIA","NFIX","NFKB1","NFKB2","NFKBIL1","NGLY1","NIPA1","NIPA2","NKAP","NKX2-5","NKX2-6","NLRP3","NME5","NME8","NOD2","NODAL","NONO","NOS3","NOTCH1","NOTCH2","NOTCH3","NPC1","NPC2","NPHP3","NPPA","NPR3","NR2F2","NR3C1","NRAS","NSD1","NSMCE2","NT5E","NXN","OBSL1","OCLN","ODAD1","ODAD2","ODAD3","ODAD4","ODC1","OFD1","OSGEP","OTC","OTUD5","OTULIN","P4HA2","PACS1","PAFAH1B1","PAH","PAK2","PALB2","PAM16","PBX1","PCCA","PCCB","PCGF2","PCNT","PCSK9","PDCD10","PDE11A","PDGFB","PDGFRB","PDPN","PET100","PEX1","PEX12","PEX19","PGM1","PGM3","PHGDH","PIEZO1","PIGA","PIGL","PIGN","PIGO","PIGT","PIK3C2A","PIK3CA","PIK3CD","PIK3CG","PIK3R1","PIK3R2","PKD1","PKD1L1","PKD2","PKP2","PLAGL1","PLCB1","PLCB3","PLCB4","PLCH1","PLD1","PLIN1","PLOD1","PLOD3","PLXNA1","PLXND1","PMM2","PNP","PNPLA2","POGZ","POLA1","POLR1A","POLR1B","POLR1C","POLR1D","POLR3A","POLR3F","PORCN","POU3F4","PPARG","PPFIBP1","PPP1CB","PPP1R15B","PPP1R17","PPP2R1A","PPT1","PQBP1","PRDM13","PRDM16","PRDM6","PRIM1","PRKACB","PRKAR1A","PRKCD","PRKCH","PRKCSH","PRKCZ","PRKG1","PRNP","PROC","PROS1","PRPF3","PRTN3","PSAP","PSEN1","PSMD12","PTCH1","PTDSS1","PTEN","PTH1R","PTPN11","PTPN22","PUF60","PYCR1","QRICH1","RAB23","RAC1","RAD21","RAD51","RAD51C","RAF1","RAI1","RASA1","RASA2","RASGRP1","RBM10","RBM8A","RBP4","RBPJ","RERE","RET","RFC2","RFT1","RFWD3","RIN2","RIPPLY2","RIT1","RNASEH2A","RNASEH2B","RNASEH2C","RNF168","RNF213","RNU4ATAC","RNU7-1","ROBO1","ROBO4","ROR2","RPGR","RPL10","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS7","RRAS","RRAS2","RREB1","RSPH1","RSPH3","RSPH4A","RSPH9","RSPO2","RSPRY1","RTL1","SALL1","SALL4","SAMD9","SAMHD1","SC5D","SCN10A","SCN11A","SCN1A","SCN2A","SCN5A","SCN9A","SDHA","SDHAF2","SDHB","SDHC","SDHD","SEC24C","SEC61A1","SEC63","SELENOI","SEMA3E","SEMA4D","SERPIND1","SERPINE1","SERPINF2","SETD2","SF3B2","SF3B4","SFTPB","SH2B3","SH2D1A","SH3PXD2B","SHANK3","SHH","SIAH1","SIK3","SIN3A","SIX3","SIX6","SKI","SKIC2","SKIC3","SLC12A3","SLC12A5","SLC19A2","SLC20A2","SLC22A4","SLC25A11","SLC25A22","SLC25A24","SLC29A3","SLC2A10","SLC34A2","SLC35A2","SLC37A4","SLC39A13","SLX4","SMAD2","SMAD3","SMAD4","SMAD6","SMARCA2","SMARCA4","SMARCAL1","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SMC1A","SMC3","SMC5","SMG8","SMG9","SMO","SMOC1","SMPD1","SNAP29","SNORD118","SNRPB","SNRPN","SNX10","SNX14","SON","SOS1","SOS2","SOX10","SOX11","SOX18","SOX2","SOX4","SPAG1","SPARC","SPECC1L","SPEF2","SPEN","SPRED2","SPTBN1","SRCAP","SRY","SSR4","STAG2","STAT1","STAT2","STAT3","STAT4","STIL","STIM1","STK36","STRA6","STT3A","STX1A","STXBP1","SUCLG1","SUFU","SUPT16H","SYK","TAB2","TALDO1","TANGO2","TAOK1","TBC1D24","TBL2","TBX1","TBX2","TBX20","TBX4","TBX5","TCF4","TCIRG1","TCOF1","TDGF1","TEK","TELO2","TERT","TET2","TFAP2B","TGDS","TGFB2","TGFB3","TGFBR1","TGFBR2","TGFBR3","TGIF1","THOC6","THPO","THSD1","THSD4","TKT","TLL1","TLR4","TMCO1","TMEM106B","TMEM127","TMEM231","TMEM237","TMEM260","TMEM270","TMEM67","TMEM94","TMTC3","TNFRSF13B","TNFRSF13C","TNFRSF1A","TNFSF11","TNFSF12","TNNI3","TNNT2","TNXB","TOM1","TONSL","TP53","TP63","TPM2","TPM3","TPP2","TRAF7","TRAIP","TREM2","TREX1","TRIO","TRIP11","TRIP13","TRIP4","TRPV6","TRRAP","TSC1","TSC2","TSFM","TSR2","TTC12","TTC26","TTR","TUBG1","TULP1","TWIST1","UBA1","UBAC2","UBE2A","UBE2T","UBE3B","UBE4B","UBR1","UBR7","UFC1","UFD1","UMPS","UNC45B","UQCRFS1","USP18","USP48","USP8","USP9X","VAC14","VCP","VEGFC","VHL","VPS33A","VPS35L","VPS37D","VWF","WAC","WAS","WASHC5","WDPCP","WDR19","WDR26","WDR35","WDR37","WFS1","WIPF1","WLS","WNT4","WRN","WT1","XIAP","XRCC2","XYLT1","XYLT2","YME1L1","YY1","YY1AP1","ZAP70","ZBTB7A","ZEB2","ZFPM2","ZIC2","ZIC3","ZMIZ1","ZMPSTE24","ZMYM2","ZMYND10","ZNF148","ZNF462","ZNF687","ZNF699","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CAPILLARY_FRAGILITY":{"collection":"C5:HPO","systematicName":"M46244","pmid":"","exactSource":"HP:0025017","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025017","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CAPILLARY_FRAGILITY","geneSymbols":["ATRX","BRAF","CDH23","NR3C1","TP53","USP48","USP8"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CAPILLARY_PHYSIOLOGY":{"collection":"C5:HPO","systematicName":"M46245","pmid":"","exactSource":"HP:0025018","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025018","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CAPILLARY_PHYSIOLOGY","geneSymbols":["ATRX","BRAF","CDH23","FSHR","LCK","NR3C1","TP53","USP48","USP8","XPNPEP2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ARTERIAL_RUPTURE":{"collection":"C5:HPO","systematicName":"M41478","pmid":"","exactSource":"HP:0025019","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025019","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ARTERIAL_RUPTURE","geneSymbols":["COL1A1","COL1A2","COL3A1","COL5A1","COL5A2","FKBP14","PLOD1","PLOD3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_ERYTHROCYTE_SEDIMENTATION_RATE":{"collection":"C5:HPO","systematicName":"M41479","pmid":"","exactSource":"HP:0025021","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025021","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ERYTHROCYTE_SEDIMENTATION_RATE","geneSymbols":["ADA2","ANKRD55","AP1S3","ARPC1B","C1QB","CARD10","CASP10","CCN6","CD244","CD247","CIITA","COPA","CTLA4","ELF4","HLA-B","HLA-DPA1","HLA-DPB1","HLA-DRB1","IFNGR1","IL10","IL1R1","IL1RN","IL2RA","IL2RB","IL36RN","IL37","IL6","IRAK1","ITK","LACC1","LBR","LPIN2","MEFV","MIF","MTTP","MVK","MYD88","NCF4","NFKBIL1","NLRP12","NLRP3","NOD2","P4HA2","POMP","PRKCD","PRTN3","PSMB4","PSMB8","PSMB9","PTPN2","PTPN22","SAT1","SLC22A4","SLC29A3","SPP1","STAT4","STING1","TGFB1","TNFRSF1A","TREX1","UBA1","ZNFX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_ENTERIC_NERVOUS_SYSTEM_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M45464","pmid":"","exactSource":"HP:0025028","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025028","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_ENTERIC_NERVOUS_SYSTEM_MORPHOLOGY","geneSymbols":["ABCD1","ACTG2","AHI1","APC2","ARL13B","ARL3","ARL6","ARMC9","ARVCF","ARX","ASCL1","ATP7A","ATRX","B9D1","B9D2","BBS1","BCOR","BDNF","BRCA1","BRCA2","BRIP1","CBY1","CC2D2A","CCDC28B","CEP104","CEP120","CEP290","CEP41","COMT","CPLANE1","CSPP1","DDX3X","DDX59","DHCR7","ECE1","EDN3","EDNRB","ERBB2","ERBB3","ERCC4","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FOXF1","GATA1","GDNF","GP1BB","HIRA","HYLS1","IFT74","INPP5E","JMJD1C","KATNIP","KIAA0586","KIAA0753","KIFBP","KIT","KITLG","KRAS","L1CAM","LBX1","MAD2L2","MBTPS2","MITF","MKKS","MKS1","MYO1H","NAA10","NPHP1","NRTN","NSD1","OFD1","PALB2","PAX3","PDE6D","PGAP2","PGAP3","PHOX2B","PIBF1","PIGL","PIGN","PIGO","PIGV","PIGW","PIGY","RAD51","RAD51C","RET","RFWD3","RMRP","RPGRIP1L","RREB1","SALL4","SEC24C","SEMA3C","SEMA3D","SETBP1","SETD2","SF3B4","SH2B1","SLC6A8","SLX4","SMO","SNAI2","SOX10","SREBF1","SUFU","TBX1","TCF4","TCTN1","TCTN2","TCTN3","TMEM138","TMEM216","TMEM218","TMEM231","TMEM237","TMEM67","TOGARAM1","TTR","TUBA1A","TYR","UBE2T","UFD1","XRCC2","ZEB2","ZNF423"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_DIGESTIVE_SYSTEM_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M38229","pmid":"","exactSource":"HP:0025033","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025033","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_DIGESTIVE_SYSTEM_MORPHOLOGY","geneSymbols":["AAGAB","ABCB1","ABCB11","ABCB4","ABCC2","ABCD1","ABL1","ACADVL","ACD","ACOX2","ACTA2","ACTG2","ACVRL1","ADA2","ADAM17","ADAMTS2","ADAMTS3","ADAMTSL2","AGA","AHI1","AIRE","AK2","AKR1D1","AKT1","ALAD","ALDH18A1","ALG1","ALG12","ALG3","ALG6","ALG8","ALG9","ALMS1","AMACR","AMER1","ANTXR2","AP1B1","AP1S1","AP2S1","APC","APC2","APOB","AR","ARF1","ARFGEF2","ARHGAP31","ARID1B","ARL13B","ARL3","ARL6","ARMC9","ARNT2","ARPC1B","ARVCF","ARX","ASCC1","ASCL1","ASXL1","ASXL3","ATAD1","ATN1","ATP6V1E1","ATP7A","ATP7B","ATP8B1","ATRX","AURKA","AXIN2","B2M","B3GLCT","B9D1","B9D2","BACH2","BAP1","BAX","BAZ1B","BBS1","BCL10","BCL7B","BCOR","BCR","BDNF","BICRA","BIN1","BLM","BLNK","BMPR1A","BRAF","BRCA1","BRCA2","BRD4","BRIP1","BTK","BUB1","BUB1B","BUB3","BUD23","C1R","C1S","C2CD3","C4A","CACNA1C","CALR","CAMK2A","CAMTA1","CAPN15","CARD11","CARD8","CARMIL2","CASP10","CASZ1","CAV1","CAVIN1","CBL","CBLIF","CBS","CBY1","CC2D2A","CCBE1","CCDC103","CCDC22","CCDC28B","CCDC39","CCDC40","CCDC47","CCDC65","CCN2","CCND1","CCNO","CCNQ","CCR1","CCR6","CD19","CD3G","CD55","CD79A","CD79B","CD81","CDC45","CDC73","CDCA7","CDH1","CDH11","CDK4","CDK8","CDKN1A","CDKN1B","CDKN2A","CDKN2B","CDKN2C","CDON","CEACAM3","CEACAM6","CENPF","CEP104","CEP120","CEP290","CEP41","CEP57","CFAP221","CFAP298","CFAP300","CFAP45","CFAP74","CFC1","CFTR","CHD4","CHD7","CHEK2","CHN1","CHRM3","CHRNG","CHST14","CIITA","CISD2","CLCA4","CLIP2","CLMP","CLTRN","COG6","COG8","COL14A1","COL18A1","COL1A1","COL3A1","COL4A5","COL4A6","COL5A1","COL5A2","COL7A1","COMT","COX4I2","COX7B","CPLANE1","CPLX1","CPOX","CR2","CREBBP","CRKL","CSPP1","CTBP1","CTC1","CTHRC1","CTLA4","CTNNB1","CTNND1","CTRC","CXCR4","CYBA","CYBB","CYBC1","CYP7B1","DACT1","DCC","DCDC2","DCHS1","DCLRE1B","DCTN4","DDB1","DDX3X","DDX59","DDX6","DEF6","DGAT1","DGUOK","DHCR24","DHCR7","DHODH","DICER1","DIS3L2","DISP1","DKC1","DLC1","DLEC1","DLK1","DLL1","DLL4","DMP1","DNAAF1","DNAAF11","DNAAF2","DNAAF3","DNAAF4","DNAAF5","DNAAF6","DNAH1","DNAH11","DNAH5","DNAH9","DNAI1","DNAI2","DNAJB13","DNAJC21","DNAJC30","DNAL1","DNM2","DNMT3B","DOCK2","DOCK6","DOCK8","DOK7","DPYS","DPYSL5","DRC1","DSE","DSG1","DVL3","DYNC2H1","DYNC2I1","DYNC2I2","DYRK1A","DZIP1L","ECE1","EDN3","EDNRA","EDNRB","EFEMP2","EFL1","EFTUD2","EGFR","EHMT1","EIF4H","ELANE","ELF4","ELN","EMC1","ENG","ENPP1","EOGT","EP300","EPCAM","ERAP1","ERBB2","ERBB3","ERCC2","ERCC4","ERMARD","ESCO2","EWSR1","EXT1","EXT2","EXTL3","EYA1","F12","F13A1","F13B","F5","FAH","FAN1","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FARSB","FAS","FASLG","FAT4","FBLN5","FBN2","FCGR2A","FCHO1","FCN3","FERMT1","FGF20","FGF8","FGFR1","FGFR2","FGFR3","FGFRL1","FH","FIG4","FKBP6","FKRP","FKTN","FLCN","FLI1","FLNA","FLNB","FOCAD","FOXC1","FOXE1","FOXF1","FOXH1","FOXJ1","FOXP3","FRAS1","FREM1","FREM2","FUZ","G6PC3","GABRD","GAS1","GAS2L2","GAS8","GATA1","GATA6","GBA1","GBE1","GCLC","GDF2","GDF3","GDF6","GDNF","GFRA1","GIMAP5","GLA","GLI2","GLI3","GLIS3","GLMN","GLRA1","GLRB","GMPPA","GMPPB","GNA11","GNAS","GNB2","GON7","GP1BB","GPC3","GPC4","GPHN","GPIHBP1","GPR35","GRB10","GREB1L","GREM1","GRHL2","GRIP1","GSTM3","GTF2H5","GTF2I","GTF2IRD1","GTF2IRD2","GUCY2C","HABP2","HCCS","HDAC4","HDAC8","HEATR3","HELLS","HEPACAM","HES7","HESX1","HFE","HIRA","HLA-B","HLA-DPA1","HLA-DPB1","HLA-DQA1","HLA-DQB1","HLA-DRB1","HMBS","HMGA2","HMOX1","HNF1B","HNRNPK","HNRNPU","HOXD13","HPGD","HPS1","HRAS","HSD3B7","HSPA9","HSPG2","HYDIN","HYLS1","HYOU1","IARS1","ICOS","IDS","IFIH1","IFNGR1","IFT43","IFT74","IFT80","IGHG2","IGHM","IGKC","IGLL1","IKBKG","IKZF1","IKZF3","IL10","IL10RA","IL10RB","IL12A","IL12A-AS1","IL12RB1","IL1B","IL1RN","IL21","IL23R","IL2RA","IL37","IL6","INAVA","INPP5E","INSR","INTU","IPO8","IRF1","IRF2BP2","IRF4","IRF5","IRGM","ISL1","ITCH","ITGA6","ITGA8","ITGB2","ITGB4","IVNS1ABP","JAK1","JAK2","JAK3","JMJD1C","KANSL1","KAT6A","KAT6B","KATNIP","KCNAB2","KCNN4","KDM3B","KDM6A","KEAP1","KIAA0586","KIAA0753","KIF12","KIF21A","KIF26A","KIF3B","KIF7","KIFBP","KIT","KITLG","KLF6","KLLN","KLRC4","KMT2C","KMT2D","KRAS","KRT18","KYNU","L1CAM","LAGE3","LAMA3","LAMB3","LAMC2","LARGE1","LBR","LBX1","LCT","LEMD3","LETM1","LIG3","LIG4","LIMK1","LIPA","LMBRD1","LMNA","LMOD1","LMX1B","LONP1","LPIN2","LRBA","LRP2","LRPPRC","LRRC56","LRRC8A","LTBP1","LTBP4","LUZP1","LZTS1","MAD1L1","MAD2L2","MADD","MAFB","MALT1","MAMLD1","MAP1B","MAP3K7","MAPK1","MASP2","MBD4","MBTPS2","MC1R","MCC","MCIDAS","MCM6","MDM2","MED12","MEFV","MEG3","MEN1","MEOX1","METTL27","MGMT","MID1","MIF","MINPP1","MIR17HG","MITF","MKKS","MKS1","MLH1","MLH3","MLXIPL","MMEL1","MMP1","MMP21","MMP23B","MNX1","MPI","MS4A1","MSH2","MSH3","MSH6","MSR1","MST1","MT-CO1","MT-CO2","MT-CO3","MT-ND1","MT-ND4","MT-ND5","MT-ND6","MT-TE","MT-TF","MT-TH","MT-TK","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TW","MTM1","MTMR14","MTOR","MTRFR","MTTP","MUSK","MUTYH","MVK","MYC","MYCN","MYD88","MYF6","MYH11","MYH3","MYLK","MYO1H","MYO5B","MYOD1","MYRF","NAA10","NBN","NCF1","NCF2","NCF4","NDUFB11","NEDD4L","NEFH","NEK1","NEK10","NEK9","NEUROG3","NFIX","NFKB1","NFKB2","NFKBIA","NHP2","NIPBL","NLRC4","NME5","NME8","NOD2","NODAL","NOP10","NOTCH1","NOTCH2","NOTCH3","NPHP1","NPHP3","NPHS1","NPM1","NRAS","NRTN","NSD1","NSD2","NSUN2","NTHL1","NUP107","NUP133","NUP88","NXN","OCRL","ODAD1","ODAD2","ODAD3","ODAD4","ODC1","OFD1","OPLAH","OSGEP","OTC","OTUD5","OTX2","PACS1","PAH","PAICS","PAK2","PALB2","PALLD","PARN","PAX3","PCSK1","PDE11A","PDE6D","PDGFRA","PDGFRB","PDGFRL","PDPN","PERCC1","PET117","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PGAP2","PGAP3","PGM3","PHGDH","PHKA2","PHKG2","PHOX2B","PI4KA","PIBF1","PIEZO1","PIEZO2","PIGL","PIGN","PIGO","PIGT","PIGV","PIGW","PIGY","PIK3C2A","PIK3CA","PIK3CD","PIK3CG","PIK3R1","PITX2","PKD1","PKHD1","PKP1","PLA2G2A","PLA2G4A","PLCG2","PLCH1","PLEC","PLG","PLVAP","PMM2","PMS1","PMS2","PNLIP","POLA1","POLD1","POLE","POLG","POLR1B","POLR1C","POLR1D","POMT1","POMT2","POR","PORCN","POT1","POU2AF1","PPOX","PPP1R12A","PPP2R3C","PPP2R5D","PQBP1","PRDM16","PRF1","PRKAR1A","PRKCD","PRKCZ","PRMT7","PROKR2","PRSS1","PRSS2","PRTN3","PSPH","PSTPIP1","PTCH1","PTDSS1","PTEN","PTF1A","PTPN12","PTPN22","PTPN3","PTPRJ","PTRH2","PYCR1","RABL3","RAC2","RAD21","RAD51","RAD51C","RAD54B","RAPSN","RARB","RASGRP1","RBCK1","RBM10","RBM8A","RBPJ","RECQL4","REL","RELA","RERE","RET","RFC2","RFWD3","RFX5","RFX6","RFXANK","RFXAP","RHBDF2","RIPK1","RIPK4","RMRP","RNF43","RNF6","RNU12","ROBO1","ROR2","RPGR","RPGRIP1L","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS6KA3","RPS7","RRAS2","RREB1","RRM2B","RSPH1","RSPH3","RSPH4A","RSPH9","RSPO2","RTEL1","RTL1","RTTN","RUNX1","RYR1","SAA1","SALL1","SALL4","SAMD9","SAR1B","SATB1","SATB2","SBDS","SDHA","SDHB","SDHC","SDHD","SEC23B","SEC24C","SEMA3C","SEMA3D","SEMA3E","SEMA4A","SEMA4D","SERPINA1","SERPING1","SERPINH1","SETBP1","SETD2","SETD5","SF3B4","SGO1","SH2B1","SH3KBP1","SHH","SHPK","SI","SIN3A","SIX1","SIX3","SIX6","SKI","SKIC2","SKIC3","SLC10A2","SLC11A1","SLC12A2","SLC18A3","SLC25A12","SLC25A24","SLC26A3","SLC26A9","SLC29A3","SLC2A10","SLC2A2","SLC30A10","SLC37A4","SLC39A4","SLC39A7","SLC46A1","SLC51B","SLC5A1","SLC6A14","SLC6A19","SLC6A5","SLC6A8","SLC7A7","SLC9A3","SLCO2A1","SLX4","SMAD2","SMAD3","SMAD4","SMAD7","SMARCAL1","SMARCD1","SMC1A","SMC3","SMO","SNAI2","SNRPB","SOCS1","SON","SOX10","SOX2","SOX3","SPAG1","SPEF2","SPEN","SPI1","SPIB","SPINK1","SPINK5","SPINT2","SRC","SRCAP","SREBF1","SRP54","SRSF2","STAG2","STAT1","STAT3","STAT4","STAT5B","STIL","STK11","STK36","STN1","STRA6","STS","STX11","STX1A","STX3","STXBP1","STXBP2","SUFU","SUZ12","SYK","SYT2","TBC1D23","TBC1D7","TBCE","TBL2","TBX1","TBX3","TBXT","TCF3","TCF4","TCOF1","TCTN1","TCTN2","TCTN3","TDGF1","TEK","TERC","TERF2IP","TERT","TET2","TFAP2A","TGFB1","TGFB2","TGFB3","TGFBR1","TGFBR2","TGIF1","THOC6","TINF2","TJP2","TLR2","TLR4","TMEM138","TMEM216","TMEM218","TMEM231","TMEM237","TMEM270","TMEM67","TMEM94","TMPRSS6","TMTC3","TNFAIP3","TNFRSF13B","TNFRSF13C","TNFRSF1A","TNFSF12","TNFSF15","TNPO3","TNRC6B","TNXB","TOGARAM1","TOM1","TP53","TP53RK","TP63","TPRKB","TRAPPC11","TREH","TREX1","TRIP13","TRMT5","TSR2","TTC12","TTC26","TTC7A","TTR","TUBA1A","TWIST1","TWIST2","TWNK","TYMP","TYMS","TYR","UBA2","UBAC2","UBE2T","UBE3B","UBE4B","UBR1","UFD1","UNC13D","UNC45A","UPB1","UROD","UROS","USB1","USF3","USP9X","VAC14","VANGL1","VARS1","VPS35L","VPS37D","VPS51","VWF","WAC","WAS","WASHC5","WBP11","WDR35","WDR4","WDR73","WFS1","WIPF1","WNT2B","WNT3","WNT4","WNT7A","WNT7B","WNT9B","WRAP53","WT1","WWOX","XIAP","XRCC2","XRCC4","XYLT2","YRDC","YY1","ZAP70","ZBTB24","ZBTB7A","ZEB2","ZFPM2","ZIC2","ZIC3","ZMPSTE24","ZMYND10","ZNF423","ZNF699","ZPR1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_BRAIN_LACTATE_LEVEL_BY_MRS":{"collection":"C5:HPO","systematicName":"M38230","pmid":"","exactSource":"HP:0025045","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025045","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BRAIN_LACTATE_LEVEL_BY_MRS","geneSymbols":["COG8","COX11","COX16","CYP27A1","DNM1L","ECHS1","FARS2","GFM2","HPDL","HSD17B10","HTRA2","KARS1","LYRM4","LYRM7","MECR","MRPS34","MT-CO1","MT-CO2","MT-CO3","MT-ND1","MT-ND4","MT-ND5","MT-ND6","MT-TF","MT-TH","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TW","MTRFR","NDUFAF6","NDUFB7","POLRMT","SDHB","SLC39A8","SQOR","SUCLG1","VARS2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_BRAIN_CHOLINE_LEVEL_BY_MRS":{"collection":"C5:HPO","systematicName":"M41480","pmid":"","exactSource":"HP:0025047","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025047","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BRAIN_CHOLINE_LEVEL_BY_MRS","geneSymbols":["CNP","CYP27A1","GALC","GRM7","IBA57","NAXE","NDUFAF6","NGLY1","PSAP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_BRAIN_N_ACETYL_ASPARTATE_LEVEL_BY_MRS":{"collection":"C5:HPO","systematicName":"M38231","pmid":"","exactSource":"HP:0025052","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025052","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BRAIN_N_ACETYL_ASPARTATE_LEVEL_BY_MRS","geneSymbols":["ASPA","ATAD3A","CACNA1G","CNP","FARS2","FBXO28","FOCAD","GALC","GFM2","GRM7","NAT8L","NDUFB7","NGLY1","PSAP","SDHAF1","SDHD","SLC25A12","SLC35A2","TBCK"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_OLFACTORY_LOBE_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M38232","pmid":"","exactSource":"HP:0025057","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025057","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_OLFACTORY_LOBE_MORPHOLOGY","geneSymbols":["ANOS1","EDN3","EDNRB","MITF","MKS1","PEX1","PIGA","SOX10"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_MEAN_CORPUSCULAR_VOLUME":{"collection":"C5:HPO","systematicName":"M38233","pmid":"","exactSource":"HP:0025065","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025065","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MEAN_CORPUSCULAR_VOLUME","geneSymbols":["ABCB6","ADA2","ANKRD11","CBLIF","DHFR","DNAJC21","DUT","EFL1","ETV6","GATA1","GLRX5","HBB","HEATR3","KCNN4","KIF23","LARS2","LIG1","LPIN2","MDM4","MMADHC","MTRR","NHLRC2","PIEZO1","RACGAP1","RHAG","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS7","SAMD9","SAMD9L","SBDS","SLC11A2","SLC25A38","SLC4A1","SPTB","SRP54","STEAP3","TERC","TERT","TINF2","TRNT1","TSR2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DECREASED_MEAN_CORPUSCULAR_VOLUME":{"collection":"C5:HPO","systematicName":"M38234","pmid":"","exactSource":"HP:0025066","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025066","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_MEAN_CORPUSCULAR_VOLUME","geneSymbols":["GLRX5","HBB","LPIN2","NHLRC2","SLC11A2","SLC25A38","SLC4A1","SPTB","STEAP3","TRNT1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INCOMITANT_STRABISMUS":{"collection":"C5:HPO","systematicName":"M38235","pmid":"","exactSource":"HP:0025068","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025068","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCOMITANT_STRABISMUS","geneSymbols":["ACKR3","ARX","CCNQ","CEP120","CHN1","COL25A1","CSPP1","DNM1L","GJA5","GJA8","HOXA1","KCNN2","KIAA0586","MAFB","MED13","MN1","NSMF","OPA1","PIEZO2","SALL1","SALL4","UBA2","ZMIZ1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_U_WAVE":{"collection":"C5:HPO","systematicName":"M46246","pmid":"","exactSource":"HP:0025070","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025070","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_U_WAVE","geneSymbols":["CAV3","CLCNKB","KCNJ2","KCNJ5","SLC12A3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_QRS_COMPLEX":{"collection":"C5:HPO","systematicName":"M46247","pmid":"","exactSource":"HP:0025074","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025074","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_QRS_COMPLEX","geneSymbols":["CACNA1D","GJA5","GNB2","IRX5","JUP","LAMP2","PKP2","PRKAG2","SVIL","TMEM43"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ORTHOKERATOTIC_HYPERKERATOSIS":{"collection":"C5:HPO","systematicName":"M43457","pmid":"","exactSource":"HP:0025080","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025080","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ORTHOKERATOTIC_HYPERKERATOSIS","geneSymbols":["CFTR","DSG1","KRT10","PNPLA1","RSPO1","SERPINB7","SULT2B1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FOLLICULITIS":{"collection":"C5:HPO","systematicName":"M38236","pmid":"","exactSource":"HP:0025084","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025084","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOLLICULITIS","geneSymbols":["GJB2","GJB6","IL10RA","IL10RB","IL17RA","IVNS1ABP","KRT17","MBTPS2","XIAP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BLOODY_DIARRHEA":{"collection":"C5:HPO","systematicName":"M38237","pmid":"","exactSource":"HP:0025085","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025085","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BLOODY_DIARRHEA","geneSymbols":["ACVRL1","ADAM17","AMACR","APC","ARPC1B","ATRX","BMPR1A","CARD8","CD109","CDKN1A","CDKN1B","CDKN2B","CDKN2C","COX15","CYP7B1","DAXX","EGFR","ENG","F5","FAH","GP1BA","GP1BB","GREM1","HPS1","IFIH1","IL10RA","IL37","ITGA2","ITGA2B","ITGB3","KIF23","MEN1","PI4KA","PLVAP","PTEN","RACGAP1","RBCK1","SKIC2","SKIC3","SMAD4","SREBF1","STK11","TAOK1","TGFB1","TTC7A","WAS","WIPF1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_EPIDERMAL_ACANTHOSIS":{"collection":"C5:HPO","systematicName":"M38238","pmid":"","exactSource":"HP:0025092","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025092","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EPIDERMAL_ACANTHOSIS","geneSymbols":["AAGAB","AKT1","ALOX12B","ALOXE3","ATP2A2","CARD14","CAST","CDSN","CERS3","CIB1","CLDN1","COL14A1","CSTA","CYP4F22","DSC3","DSG1","DSP","EGFR","ELOVL1","ENPP1","EXPH5","GJA1","GJB2","GJB3","GJB6","GRHL2","IL1RN","IL36RN","JUP","KDSR","KRT1","KRT13","KRT16","KRT6C","KRT74","KRT9","LIPN","LORICRIN","MBTPS2","NIPAL4","NLRP1","NSDHL","PERP","POGLUT1","SERPINB7","SERPINB8","SLC27A4","SLURP1","SMARCAD1","TGM1","WNT10A","ZNF750"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_EYELID_MYOCLONUS":{"collection":"C5:HPO","systematicName":"M41483","pmid":"","exactSource":"HP:0025097","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025097","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EYELID_MYOCLONUS","geneSymbols":["ASAH1","ATP1A3","DHFR","GRIN1","KCNC2","PLA2G6","RORA","RORB","SLC6A1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DYSGENESIS_OF_THE_HIPPOCAMPUS":{"collection":"C5:HPO","systematicName":"M38239","pmid":"","exactSource":"HP:0025101","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025101","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DYSGENESIS_OF_THE_HIPPOCAMPUS","geneSymbols":["DCC","DNAL4","DPYSL5","GABRA1","GABRG2","KDM4B","MACF1","NTN1","PCDH19","RAD51","SCN1A","SCN1B","SCN2A","SCN9A","TUBA1A","TUBB3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DYSGENESIS_OF_THE_BASAL_GANGLIA":{"collection":"C5:HPO","systematicName":"M47226","pmid":"","exactSource":"HP:0025102","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025102","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DYSGENESIS_OF_THE_BASAL_GANGLIA","geneSymbols":["CAMSAP1","TUBA1A","TUBB","TUBB2B","TUBB3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CAPILLARY_MALFORMATION":{"collection":"C5:HPO","systematicName":"M38240","pmid":"","exactSource":"HP:0025104","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025104","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CAPILLARY_MALFORMATION","geneSymbols":["ASXL1","ASXL2","BAZ1B","BCL7B","BUD23","CDK10","CDK13","CDKN1C","CLIP2","CYP1B1","DIS3L2","DNAJC30","DVL1","DVL3","EDEM3","EIF2AK4","EIF4H","ELN","EPHB4","FGFR1","FKBP6","FRA10AC1","FZD2","GNAQ","GTF2I","GTF2IRD1","GTF2IRD2","H19","IGF2","KCNQ1","KCNQ1OT1","KRAS","LBR","LIMK1","LTBP2","MED25","METTL27","MLXIPL","MTOR","MYOC","NAA10","NCF1","NEK9","NF1","NOTCH1","NXN","PIK3CA","PLP1","PUF60","RASA1","RBM8A","RFC2","ROR2","SETBP1","SLC26A2","SMC3","STAMBP","STX1A","TBL2","TEK","TGFB3","TMEM270","TRIM37","VPS37D","WNT5A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPERGRANULOSIS":{"collection":"C5:HPO","systematicName":"M38242","pmid":"","exactSource":"HP:0025114","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025114","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERGRANULOSIS","geneSymbols":["AAGAB","ALOX12B","ALOXE3","ATP2A2","CARD14","CERS3","COL14A1","DSG1","ENPP1","GJA1","GJB3","KRT1","KRT16","KRT9","LIPN","LORICRIN","PNPLA1","POGLUT1","SDR9C7","SERPINB7","WNT10A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FETAL_DISTRESS":{"collection":"C5:HPO","systematicName":"M38243","pmid":"","exactSource":"HP:0025116","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025116","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FETAL_DISTRESS","geneSymbols":["ABCB4","ABCC6","ABCD4","AFF2","ALDH7A1","AP1S2","ATAD3A","ATP8B1","BUB1","CAMK2B","COX11","CTCF","DNMT3A","EMC10","ENPP1","EXOSC9","FOXRED1","GOSR2","IKZF1","IL1RN","IPO8","KCNQ5","LMNA","LRPPRC","MT-ND1","MT-ND2","MT-ND3","NDUFA1","NDUFA10","NDUFA11","NDUFA6","NDUFAF1","NDUFAF2","NDUFAF3","NDUFAF4","NDUFAF5","NDUFAF8","NDUFB10","NDUFB11","NDUFB3","NDUFB9","NDUFS1","NDUFS2","NDUFS3","NDUFS4","NDUFS6","NDUFS7","NDUFS8","NDUFV1","NDUFV2","NUBPL","OSTM1","PEX2","PIGA","PLPBP","RPL11","SLC2A1","SLC6A9","SON","SPEN","TIMMDC1","TMEM126B","TTC26","USP18"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_SMALL_INTESTINAL_MUCOSA_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M47227","pmid":"","exactSource":"HP:0025129","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025129","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SMALL_INTESTINAL_MUCOSA_MORPHOLOGY","geneSymbols":["ADAM17","ALG3","ALG9","CIITA","DEF6","DGAT1","EPCAM","FOXP3","IL2RA","LCT","LRBA","MCM6","MPI","MYO5B","NLRC4","PCSK1","PERCC1","PMM2","RFX5","RFXANK","RFXAP","SAR1B","SKIC2","SKIC3","SPINK5","STAT1","STX3","SYK","TOM1","UNC45A","WNT2B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FINGER_SWELLING":{"collection":"C5:HPO","systematicName":"M38244","pmid":"","exactSource":"HP:0025131","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025131","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FINGER_SWELLING","geneSymbols":["MMP2","OCRL","PSMB4","PSMB8","PSMB9","TRAPPC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_SERUM_ESTRADIOL":{"collection":"C5:HPO","systematicName":"M47228","pmid":"","exactSource":"HP:0025133","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025133","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SERUM_ESTRADIOL","geneSymbols":["AKT1","AR","BAP1","BMP15","BNC1","CDKN2A","CTDP1","CTNNB1","CYB5A","CYP17A1","DCAF17","DHH","DHX37","DMRT3","ESR1","ESR2","FEZF1","FOXL2","FSHB","FSHR","GATA4","GDF9","GNRH1","KISS1","LARS2","LEP","LEPR","MAP3K1","MCM9","MRPS22","MSH4","NDNF","NF2","NR0B1","NR5A1","NUP107","PDGFB","PIK3CA","POLR3A","POLR3H","POR","PRKAR1A","PSMC3IP","SEMA3A","SMARCB1","SMARCE1","SMO","SOHLH1","SOX9","SPIDR","SRY","STAG3","SUFU","TERT","TP53","TP63","TRAF7","VAMP7","WT1","WWOX","XRCC2","ZFPM2","ZNRF3","ZSWIM7"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INCREASED_SERUM_ESTRADIOL":{"collection":"C5:HPO","systematicName":"M46248","pmid":"","exactSource":"HP:0025134","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025134","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_SERUM_ESTRADIOL","geneSymbols":["AR","CDKN2A","CTNNB1","ESR1","POLR3A","PRKAR1A","TERT","TP53","ZNRF3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CONSTITUTIONAL_SYMPTOM":{"collection":"C5:HPO","systematicName":"M38246","pmid":"","exactSource":"HP:0025142","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025142","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONSTITUTIONAL_SYMPTOM","geneSymbols":["AAGAB","ABCA1","ABCA12","ABCB11","ABCB4","ABCC2","ABCC6","ABCC9","ABCD1","ABCG5","ABCG8","ABL1","ACAD9","ACADM","ACADVL","ACAT1","ACP5","ACSF3","ACTA1","ACTA2","ACTC1","ACTG2","ACTN4","ADA2","ADAMTS19","ADNP","AGBL1","AGK","AGXT","AIP","AKAP9","AKT1","ALAD","ALAS2","ALB","ALDH18A1","ALDH4A1","ALDOA","ALDOB","ALG10B","ALG5","ALG9","ALMS1","ALOX12B","ALOXE3","ALS2","AMPD1","AMPD3","AMT","ANG","ANK1","ANK2","ANKFY1","ANKH","ANKRD55","ANLN","ANO5","ANTXR2","ANXA11","AP1S3","AP2S1","AP5Z1","APC","APOB","APOL1","APRT","ARHGAP24","ARHGDIA","ARMC5","ARNT2","ARSA","ARSB","ARVCF","ARX","ASAH1","ASPN","ASPRV1","ASXL1","ATL1","ATL3","ATM","ATP13A2","ATP13A3","ATP2A1","ATP5F1A","ATP5F1D","ATP5F1E","ATP5MK","ATP7A","ATP7B","ATP8B1","ATPAF1","ATPAF2","ATRX","ATXN10","ATXN2","ATXN3","ATXN8OS","AUH","B2M","BAP1","BAZ1B","BCL10","BCL11A","BCL2","BCL6","BCL7B","BCOR","BCR","BCS1L","BICC1","BICD2","BIN1","BIRC3","BLNK","BMP2","BMP6","BMPR1A","BNC2","BRCA1","BRCA2","BSCL2","BTK","BTNL2","BUD23","BVES","C1QB","C1QBP","C1R","C1S","C4A","CABP4","CACNA1C","CACNA1G","CACNA1H","CACNA2D1","CALM1","CALM2","CALM3","CALR","CAPN1","CAPN3","CARD8","CARMIL2","CARS2","CASK","CASQ1","CASQ2","CASR","CAT","CAV1","CAV3","CAVIN1","CBL","CCDC78","CCL2","CCN2","CCN6","CCND1","CCNF","CCR1","CCR6","CD19","CD244","CD247","CD28","CD2AP","CD46","CD55","CD79A","CD79B","CD81","CDC73","CDH2","CDH23","CDKN1A","CDKN1B","CDKN2A","CDKN2B","CDKN2C","CEBPE","CEL","CFAP410","CFAP43","CFH","CFI","CFTR","CHCHD10","CHEK2","CHMP2B","CHRNA2","CHRNA4","CHRNB2","CHST11","CHST3","CHST6","CIITA","CITED2","CLCF1","CLCN1","CLCN5","CLCN7","CLCNKB","CLDN16","CLIP2","CLPB","CNBP","COA3","COG5","COL10A1","COL11A1","COL11A2","COL12A1","COL13A1","COL14A1","COL17A1","COL1A1","COL1A2","COL2A1","COL3A1","COL4A3","COL4A5","COL4A6","COL5A1","COL5A2","COL7A1","COL8A2","COL9A1","COL9A2","COL9A3","COMP","COMT","COPA","COPB1","COQ2","COQ6","COQ7","COQ8A","COQ8B","CORIN","COX6B1","CPA1","CPLX1","CPOX","CPT1A","CPT1C","CPT2","CR2","CRB2","CRH","CRKL","CRLF1","CRPPA","CSRP3","CTLA4","CTNNB1","CTNS","CTRC","CTSK","CYP19A1","CYP27B1","CYP2R1","CYP4F22","CYP7B1","CYSLTR2","DAAM2","DACT1","DAO","DAXX","DBH","DCC","DCTN1","DDB2","DDHD2","DDIT3","DDRGK1","DEPDC5","DES","DGAT1","DGUOK","DIS3L2","DKK1","DLEC1","DLL3","DLST","DMD","DMGDH","DMP1","DMPK","DNA2","DNAJB11","DNAJB6","DNAJC19","DNAJC30","DNAJC6","DNAL4","DNASE1L3","DNM1L","DNM2","DNMT1","DNMT3A","DPH5","DPM3","DPP6","DPYSL5","DSC2","DSE","DSG2","DSP","DSTYK","DTNA","DYSF","ECE1","EDN3","EDNRB","EHHADH","EIF2AK2","EIF2AK4","EIF4H","ELANE","ELF4","ELN","EMD","EMP2","ENG","ENO3","ENPP1","EPAS1","EPB41","EPB42","EPCAM","EPHA4","EPOR","ERAP1","ERBB2","ERBB3","ERBB4","ERCC2","ERCC3","ERCC4","ERCC5","ERLIN1","ESR1","EWSR1","EXT1","EXT2","EYA4","F12","F5","F8","FA2H","FAN1","FAR1","FARS2","FARSA","FARSB","FAS","FBN1","FDX2","FERMT3","FGF13","FGF23","FGFR1","FGFR3","FH","FHL1","FHOD3","FIG4","FIP1L1","FITM2","FKBP6","FKRP","FKTN","FLAD1","FLI1","FLNC","FLT1","FLVCR1","FMO3","FMR1","FN1","FOXA2","FOXE1","FOXE3","FOXP1","FRMD5","FSHR","FTL","FUS","FUZ","G6PD","GAA","GABRA1","GABRB3","GABRG2","GALC","GALNT2","GANAB","GAPVD1","GATA2","GATA4","GATA5","GATA6","GATM","GBA1","GBA2","GBE1","GCDH","GCGR","GCH1","GCK","GDNF","GFAP","GFI1","GGT1","GHSR","GIMAP5","GJA5","GJB2","GJB6","GJC2","GLA","GLDC","GLE1","GLI2","GLT8D1","GMPPB","GNA11","GNA14","GNAI2","GNAQ","GNAS","GNB2","GNE","GNPTG","GOSR2","GP1BB","GPC3","GPD1L","GPR101","GPR35","GRHL2","GRM1","GTF2I","GTF2IRD1","GTF2IRD2","GUCY2C","GUF1","GYPC","GYS1","H19","HABP2","HACD1","HACE1","HADHA","HADHB","HARS1","HAVCR2","HBA1","HBA2","HBB","HBG1","HBG2","HCN4","HELLPAR","HEPHL1","HESX1","HEXB","HEY2","HFE","HGD","HINT1","HIRA","HLA-B","HLA-DPA1","HLA-DPB1","HLA-DQA1","HLA-DQB1","HLA-DRB1","HMBS","HMGCL","HNF4A","HNRNPA1","HNRNPA2B1","HOGA1","HPDL","HPGD","HPS1","HPSE2","HRAS","HS3ST6","HS6ST2","HSPD1","HSPG2","HTRA1","HYAL1","ICOS","IDH1","IDH2","IDUA","IFNGR1","IFT140","IFT57","IGHG2","IGHM","IGHMBP2","IGKC","IGLL1","IKZF1","IL10","IL12A","IL12A-AS1","IL12B","IL12RB1","IL18BP","IL1R1","IL1RN","IL21","IL23R","IL2RA","IL2RB","IL36RN","IL6","IMPDH2","INF2","INSR","IRAK1","IRF2BP2","IRF4","IRF5","ISCU","ISL1","ITGA7","IVNS1ABP","JAG1","JAK2","JMJD1C","JRK","JUP","KBTBD13","KCNA5","KCNC3","KCND3","KCNE1","KCNE2","KCNH2","KCNJ2","KCNJ3","KCNJ5","KCNN4","KCNQ1","KCNT1","KIF11","KIF1B","KIF23","KIF5A","KIF7","KIT","KL","KLF1","KLHL24","KLHL41","KLRC4","KMT2B","KPNA3","KRAS","KRT14","KRT16","KRT17","KRT5","KRT6A","KRT6B","KY","LACC1","LAMP2","LBR","LDB3","LDHA","LDLR","LDLRAP1","LEMD2","LEMD3","LHX3","LHX4","LIG3","LIMK1","LIPN","LMNA","LMNB1","LMNB2","LMX1B","LOX","LPIN1","LPIN2","LPL","LRIF1","LRIG2","LRP1","LRP5","LRP6","LRRC8A","LZTR1","MAFB","MAGI2","MALT1","MAN2B1","MAP3K20","MAPK1","MAPK8IP3","MAT1A","MAT2A","MATN3","MATR3","MAX","MC2R","MCM6","MDH2","MDM4","MED12","MEF2A","MEFV","MEN1","MESP2","MET","METTL27","MFAP5","MFN2","MGME1","MIEF2","MIF","MINPP1","MITF","MLH1","MLH3","MLIP","MLX","MLXIPL","MLYCD","MMADHC","MME","MMEL1","MMP1","MMP13","MMP2","MMUT","MNX1","MOCOS","MORC2","MPL","MRAP","MRPS2","MS4A1","MSH2","MSH6","MSMO1","MST1","MSTO1","MT-ATP6","MT-ATP8","MT-CO1","MT-CO2","MT-CO3","MT-CYB","MT-ND1","MT-ND4","MT-ND5","MT-ND6","MT-TE","MT-TF","MT-TH","MT-TK","MT-TL1","MT-TN","MT-TQ","MT-TS1","MT-TS2","MT-TW","MTHFD1","MTMR14","MTTP","MVK","MYBPC3","MYC","MYD88","MYF6","MYH11","MYH3","MYH6","MYH7","MYL2","MYL3","MYL4","MYLK","MYLK2","MYO1E","MYO1H","MYOT","MYOZ2","MYPN","NAB2","NABP1","NAGLU","NAGS","NAXE","NCF1","NCF4","NDUFAF6","NDUFS4","NEB","NEFH","NEFL","NEK1","NEXMIF","NF1","NF2","NFKB1","NFKB2","NFKBIL1","NGF","NGLY1","NIPA1","NIPAL4","NKX2-1","NKX2-5","NKX2-6","NKX3-2","NLRC4","NLRP12","NLRP3","NNT","NOD2","NOP56","NOS1","NOS1AP","NOTCH2","NOTCH2NLC","NOTCH3","NPHS1","NPHS2","NPM1","NPPA","NPRL2","NPRL3","NR1H4","NR3C1","NR4A2","NRTN","NSDHL","NTN1","NTRK1","NUMA1","NUP107","NUP133","NUP155","NUP160","NUP205","NUP37","NUP85","NUP93","OBSCN","OPA1","OPA3","OPLAH","OPTN","ORAI1","OTC","OTULIN","OTX2","OVOL2","P4HA2","PALB2","PALLD","PANK2","PAX2","PAX8","PCSK9","PDCD1","PDGFB","PDGFRA","PDGFRB","PEX11B","PFKM","PFN1","PGAM2","PGK1","PGM1","PHEX","PHIP","PHKA1","PHKA2","PHKB","PHKG2","PIEZO1","PIEZO2","PIGA","PIGF","PIGT","PIGY","PIK3CA","PIK3CG","PIK3R1","PITX2","PKD1","PKD2","PKDCC","PKHD1","PKP2","PLCE1","PLCG2","PLEC","PLEKHM1","PLN","PLP1","PML","PMP22","PMS1","PMS2","PNPLA2","PNPLA8","PNPT1","PODXL","POLE","POLG","POLG2","POLR2A","POLR3A","POLR3B","POLR3GL","POMGNT1","POMP","POMT1","PON1","PON2","PON3","PORCN","POT1","POU1F1","POU2AF1","POU6F2","PPA2","PPARG","PPARGC1A","PPOX","PPP2R5D","PRDM5","PRDM8","PREPL","PRKAG2","PRKAR1A","PRKCD","PRKCSH","PRKG1","PRKRA","PRNP","PROC","PROKR2","PROP1","PRORP","PROS1","PRPH","PRSS1","PRSS2","PRTN3","PSAP","PSMB4","PSMB8","PSMB9","PSTPIP1","PTEN","PTH1R","PTPN11","PTPN2","PTPN22","PTPN3","PTPRO","PUS1","PYGL","PYGM","RABL3","RACGAP1","RAD21","RAD51","RAPSN","RARA","RASA1","RB1","RBCK1","RBM20","REEP2","RELA","REST","RET","RETREG1","RFC2","RHAG","RIN2","RIPK1","RNASEH1","RNF168","RNF170","RNF6","RNU4ATAC","RPS20","RREB1","RRM2B","RSPH4A","RSPH9","RSRC1","RTN2","RUNX1","RYR1","RYR2","SAA1","SACS","SALL1","SAT1","SBF1","SCARB2","SCN10A","SCN11A","SCN1A","SCN1B","SCN2B","SCN3B","SCN4A","SCN4B","SCN5A","SCN8A","SCN9A","SCNN1A","SCNN1B","SCNN1G","SDHA","SDHAF2","SDHB","SDHC","SDHD","SDR9C7","SEC24C","SEC63","SELENBP1","SELENON","SEMA3C","SEMA3D","SEMA4A","SEMA4D","SEPTIN9","SERPINA6","SERPINF2","SERPING1","SF3B1","SFRP4","SGCD","SH2B3","SH3TC2","SHQ1","SI","SIGMAR1","SIN3A","SLC11A1","SLC12A3","SLC18A2","SLC18A3","SLC1A4","SLC20A2","SLC22A12","SLC22A4","SLC25A11","SLC25A13","SLC25A26","SLC25A32","SLC25A4","SLC25A42","SLC26A1","SLC26A2","SLC26A4","SLC2A1","SLC2A10","SLC2A9","SLC34A1","SLC34A2","SLC34A3","SLC39A14","SLC39A7","SLC3A1","SLC40A1","SLC44A1","SLC4A1","SLC4A11","SLC4A3","SLC9A6","SLCO2A1","SMAD2","SMAD3","SMAD4","SMARCB1","SMARCE1","SMO","SMPD1","SNTA1","SNX10","SOD1","SOST","SOX10","SOX2","SOX3","SPAST","SPG11","SPG7","SPI1","SPIB","SPINK1","SPP1","SPTA1","SPTB","SPTBN1","SPTLC1","SPTLC2","SQSTM1","SREBF1","SRP19","SRP54","SRSF2","STAR","STAT1","STAT3","STAT4","STAT5B","STAT6","STEAP3","STIM1","STING1","STK11","STOX1","STUB1","STX16","STX1A","SUFU","SULT2B1","SURF1","SVIL","SYK","SYNE1","SYNE2","SYNJ1","TAB2","TACSTD2","TAF15","TAFAZZIN","TARDBP","TBC1D24","TBC1D8B","TBCD","TBK1","TBL1XR1","TBL2","TBP","TBX1","TBX18","TBX19","TBX20","TBX5","TBX6","TBXT","TCF3","TCF4","TCIRG1","TECRL","TEK","TERT","TET2","TFR2","TGFB1","TGFB2","TGFB3","TGFBI","TGFBR1","TGFBR2","TGM1","TH","THPO","THRB","THSD4","TICAM1","TIMM50","TK2","TLL1","TLR3","TLR4","TLR7","TMEM126B","TMEM127","TMEM270","TMEM43","TNFRSF11A","TNFRSF11B","TNFRSF13B","TNFRSF13C","TNFRSF1A","TNFRSF1B","TNFSF11","TNFSF12","TNFSF15","TNNC1","TNNI3","TNNT2","TNPO3","TNXB","TONSL","TOP3A","TP53","TP63","TPM1","TPM2","TPM3","TRAF3","TRAF7","TRANK1","TRAPPC11","TRAPPC2","TRDN","TREH","TREM2","TREX1","TRHR","TRIM28","TRIM32","TRIO","TRIP13","TRMT5","TRPA1","TRPC6","TRPM4","TRPS1","TRPV4","TSC1","TSC2","TSHB","TSHR","TSPOAP1","TSPYL1","TTN","TTR","TWNK","TXNRD2","TYMP","TYROBP","UBA1","UBAC2","UBAP1","UBQLN2","UBR7","UFD1","UFSP2","UNC13A","UNC45A","UNC45B","UNC93B1","UQCRH","VANGL1","VANGL2","VAPB","VCP","VDR","VHL","VPS37D","VSX1","VWA1","WAS","WASHC5","WIPF1","WNT1","WNT3A","WRN","WT1","WWOX","XPA","XPC","YARS2","YY1","ZBTB16","ZC4H2","ZEB1","ZEB2","ZFTA","ZFYVE26","ZMPSTE24","ZMYM2","ZNF469","ZNF687","ZNRF3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CHILLS":{"collection":"C5:HPO","systematicName":"M38247","pmid":"","exactSource":"HP:0025143","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025143","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHILLS","geneSymbols":["ANK1","EPB41","EPB42","GYPC","HADHA","HADHB","HAVCR2","MVK","NLRP3","PKHD1","SLC4A1","SPTA1","SPTB","TBK1","TICAM1","TLR3","TRAF3","UNC93B1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_HEPATOBILIARY_SYSTEM_PHYSIOLOGY":{"collection":"C5:HPO","systematicName":"M38248","pmid":"","exactSource":"HP:0025155","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025155","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_HEPATOBILIARY_SYSTEM_PHYSIOLOGY","geneSymbols":["ABCD3","ACAD9","ACADM","ACTG2","ACVRL1","AKR1D1","ALDOB","ALG1","ALG3","ALG8","ALMS1","AMACR","ASAH1","ASXL1","ATP6AP2","ATP7B","ATRX","BAAT","BCS1L","BLVRA","BMP6","BTNL2","CACNA1S","CALR","CBL","CC2D2A","CCDC115","CCDC47","CLDN1","COA8","COG2","COG4","COG7","COQ2","COX16","CPT1A","CPT2","CTC1","CYC1","CYP7B1","DAXX","DCDC2","DDOST","DEF6","DGUOK","DKC1","DLD","EIF2AK3","ENG","EPM2A","F13A1","F13B","F5","FADD","FAH","FARSB","FBP1","FECH","FH","FOCAD","GALM","GALT","GANAB","GATC","GBA1","GBE1","GDF2","GFM1","GPR35","GSTZ1","H4C3","HADH","HADHA","HADHB","HBB","HFE","HLA-B","HLA-DRB1","HMGCL","HSD3B7","IARS1","IFT122","IFT172","IKZF1","IL12A","IL12RB1","IL18BP","IL21R","INPP5E","IRF5","ITCH","JAG1","JAK2","KRT18","LARS1","LARS2","LIPA","LIPT1","LRPPRC","LYST","MARS1","MED12","MEFV","MICOS13","MMEL1","MPI","MPV17","MRM2","MRPS23","MRPS7","MST1","MT-ATP6","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND5","MT-ND6","MT-TK","MT-TL1","MT-TN","MT-TS1","MT-TT","MT-TV","MT-TW","NAGS","NBAS","NDUFS4","NHLRC1","NHP2","NOP10","NPC1","NPM1","NR1H4","OCLN","OSTM1","OTC","P4HA2","PARN","PARS2","PCK1","PCK2","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PIGA","PNPT1","POLG","POLG2","PORCN","POU2AF1","PRF1","PTPN22","QRSL1","RBM10","RINT1","RMND1","RNU12","RPGRIP1L","RTEL1","RUNX1","RYR1","SC5D","SCYL1","SEMA4D","SERPINA1","SH2D1A","SKIC3","SLC25A15","SLC25A20","SLC2A2","SLC30A10","SLC39A8","SLC7A7","SMAD4","SMPD1","SP110","SPIB","SRSF2","STX11","STXBP2","SURF1","TALDO1","TCF4","TERC","TERT","TET2","TFAM","TINF2","TJP2","TMEM199","TMEM67","TNFSF15","TNPO3","TRMT10C","TRMU","TYMS","UBR1","UGT1A1","UNC13D","UQCRC2","USB1","VPS51","WRAP53","XIAP","ZNFX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPERAUTOFLUORESCENT_RETINAL_LESION":{"collection":"C5:HPO","systematicName":"M41484","pmid":"","exactSource":"HP:0025158","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025158","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERAUTOFLUORESCENT_RETINAL_LESION","geneSymbols":["ARL6","ARSG","BBS1","CCDC28B","CFAP418","CFH","CFI","EFEMP1","GUCA1A","GUCY2D","IDH3A","KIAA1549","KIF3B","POMGNT1","PRPH2","TLCD3B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPOAUTOFLUORESCENT_RETINAL_LESION":{"collection":"C5:HPO","systematicName":"M43458","pmid":"","exactSource":"HP:0025159","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025159","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOAUTOFLUORESCENT_RETINAL_LESION","geneSymbols":["CFH","CFI","CWC27","EFEMP1","KIZ","RPGR","TLCD3B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_TEMPER_TANTRUMS":{"collection":"C5:HPO","systematicName":"M38249","pmid":"","exactSource":"HP:0025160","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025160","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_TEMPER_TANTRUMS","geneSymbols":["ADNP","ARPC4","CLCN3","CNTNAP2","CSNK2A1","CTCF","CTNNB1","DPF2","FMR1","FOXP2","GBA1","GNAI1","KAT5","MAGEL2","NDN","OCA2","PACS1","PPP2R5D","RSRC1","SATB2","SCN8A","SETBP1","SIM1","SNRPN","SRCAP","TACO1","TAOK1","TLK2","TUBB2B","USP7","WARS2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FREQUENT_TEMPER_TANTRUMS":{"collection":"C5:HPO","systematicName":"M46249","pmid":"","exactSource":"HP:0025161","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025161","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FREQUENT_TEMPER_TANTRUMS","geneSymbols":["ARPC4","CLCN3","CSNK2A1","KAT5","SATB2","SETBP1","TAOK1","TLK2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SEVERE_TEMPER_TANTRUMS":{"collection":"C5:HPO","systematicName":"M46250","pmid":"","exactSource":"HP:0025162","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025162","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEVERE_TEMPER_TANTRUMS","geneSymbols":["DPF2","GNAI1","RSRC1","SCN8A","TACO1","WARS2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_OPTIC_CHIASM_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M46251","pmid":"","exactSource":"HP:0025163","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025163","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_OPTIC_CHIASM_MORPHOLOGY","geneSymbols":["ALDH1A3","DYRK1A","LETM1","OPA1","TRAPPC12","UCHL1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FRAGMENTED_ELASTIC_FIBERS_IN_THE_DERMIS":{"collection":"C5:HPO","systematicName":"M47229","pmid":"","exactSource":"HP:0025167","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025167","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FRAGMENTED_ELASTIC_FIBERS_IN_THE_DERMIS","geneSymbols":["ALDH18A1","ATP6V0A2","ATP6V1A","ATP6V1E1","CYP26C1","EFEMP2","ELN","FBLN5","LTBP1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LEFT_VENTRICULAR_DIASTOLIC_DYSFUNCTION":{"collection":"C5:HPO","systematicName":"M46252","pmid":"","exactSource":"HP:0025168","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025168","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LEFT_VENTRICULAR_DIASTOLIC_DYSFUNCTION","geneSymbols":["ADAMTS19","ALPK3","FLNC","LMNA","PRDM16","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LEFT_VENTRICULAR_SYSTOLIC_DYSFUNCTION":{"collection":"C5:HPO","systematicName":"M38250","pmid":"","exactSource":"HP:0025169","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025169","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LEFT_VENTRICULAR_SYSTOLIC_DYSFUNCTION","geneSymbols":["AARS2","ABCC6","ABCC9","ACADVL","B2M","BAG5","COA6","CRYAB","CSRP3","DES","DSG2","DYSF","ENPP1","FHOD3","FKTN","GATAD1","GET3","GJA5","GTPBP3","KCNJ5","KLHL24","LAMA2","LAMA4","LAMP2","LMNA","LMOD2","MYBPC3","MYH6","MYH7","MYL3","MYOZ2","NEXN","NPPA","POLG","POLG2","POMT2","PPCS","PRDM16","PSEN1","PSEN2","RAF1","RBM20","RPL3L","RRAGD","RRM2B","SCN5A","SDHA","SDHD","SGCD","SGCG","SLC25A4","SLC6A6","TNNC1","TNNI3","TNNT2","TOP3A","TTN","TTR","TWNK","VCL","VEZF1","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MARCUS_GUNN_JAW_WINKING_SYNKINESIS":{"collection":"C5:HPO","systematicName":"M47230","pmid":"","exactSource":"HP:0025186","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025186","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MARCUS_GUNN_JAW_WINKING_SYNKINESIS","geneSymbols":["COL25A1","KIF21A","PHOX2A","TOGARAM1","TUBA1A","TUBB2B","TUBB3","WDR26"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BILATERAL_TONIC_CLONIC_SEIZURE_WITH_GENERALIZED_ONSET":{"collection":"C5:HPO","systematicName":"M38251","pmid":"","exactSource":"HP:0025190","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025190","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BILATERAL_TONIC_CLONIC_SEIZURE_WITH_GENERALIZED_ONSET","geneSymbols":["ADGRG1","AP2M1","ASAH1","CACNB4","CHD2","CILK1","CLCN2","COQ5","COX8A","CPLX1","EFHC1","EXOC8","GABRA1","GABRA5","GABRD","GABRG2","GAD1","GBA1","GRIN2A","IREB2","JRK","KCNMA1","KCNQ3","MAST3","NARS1","NEXMIF","PCDH19","PCYT2","PTEN","PURA","SCN1A","SCN1B","SCN2A","SCN9A","SEPSECS","SLC2A1","SLC6A1","SLC9A6","SYNGAP1","TBC1D24","TMX2","TSEN15","TSEN2","TSEN34","TSEN54","UBE3A","VPS53"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CIRCULATING_APOLIPOPROTEIN_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M41486","pmid":"","exactSource":"HP:0025201","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025201","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_APOLIPOPROTEIN_CONCENTRATION","geneSymbols":["ABCA1","APOA1","APOC2","ATP6V0A2","ATP6V1A","ATP6V1E1","CCT5","LPL","MTTP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PARASOMNIA":{"collection":"C5:HPO","systematicName":"M43459","pmid":"","exactSource":"HP:0025234","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025234","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PARASOMNIA","geneSymbols":["CABP4","CHRNA2","CHRNA4","CHRNB2","CRH","DEPDC5","KCNT1","MAGEL2","MTFMT","SIM1","SLC25A13","SMO","TFAP2B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CONFUSIONAL_AROUSAL":{"collection":"C5:HPO","systematicName":"M43461","pmid":"","exactSource":"HP:0025237","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025237","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONFUSIONAL_AROUSAL","geneSymbols":["CABP4","CHRNA2","CHRNA4","CHRNB2","CRH","DEPDC5","KCNT1","MAGEL2","SIM1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CUTANEOUS_CYST":{"collection":"C5:HPO","systematicName":"M38252","pmid":"","exactSource":"HP:0025245","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025245","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CUTANEOUS_CYST","geneSymbols":["ALX3","ANTXR1","APC","CDH1","CEP57","CTNND1","IFNG","KRT16","KRT17","KRT5","KRT6A","KRT6B","MSX2","POFUT1","POGLUT1","PSENEN","SYT1","TFAP2A","TSC1","TSC2","VANGL1","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DERMOID_CYST":{"collection":"C5:HPO","systematicName":"M38253","pmid":"","exactSource":"HP:0025247","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025247","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DERMOID_CYST","geneSymbols":["ALX3","MSX2","SYT1","TFAP2A","VANGL1","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_STIFF_NECK":{"collection":"C5:HPO","systematicName":"M46253","pmid":"","exactSource":"HP:0025258","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025258","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_STIFF_NECK","geneSymbols":["COL2A1","DKK1","NDE1","NDUFS3","NEK9"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SNORING":{"collection":"C5:HPO","systematicName":"M38254","pmid":"","exactSource":"HP:0025267","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025267","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SNORING","geneSymbols":["AHDC1","EDN1","GNAI3","GPR101","GUSB","HEPHL1","PLCB4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_STUTTERING":{"collection":"C5:HPO","systematicName":"M38255","pmid":"","exactSource":"HP:0025268","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025268","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_STUTTERING","geneSymbols":["AP4E1","CHD3","HEXB","KANSL1","LAS1L","MAPT","MT-CO1","MT-CO2","MT-CO3","MT-ND1","MT-ND4","MT-ND5","MT-ND6","MT-TF","MT-TH","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TW","NEXMIF","NSD1","SCYL1","TDO2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PANIC_ATTACK":{"collection":"C5:HPO","systematicName":"M46254","pmid":"","exactSource":"HP:0025269","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025269","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PANIC_ATTACK","geneSymbols":["ATRX","BRAF","CDH23","CDKL5","CDKN2A","CIZ1","CREBBP","CTNNB1","DLST","DNAJC6","DNMT3A","DRD2","EP300","EPAS1","FH","GABBR2","HTRA2","KCNN2","KCTD17","KIF1B","LRRK2","MAX","MDH2","MECP2","NF1","NR3C1","NTNG1","PARK7","PINK1","PODXL","PRKAR1A","PRKN","RET","SDHA","SDHAF2","SDHB","SDHC","SDHD","SGCE","SLC25A11","SMC1A","SNCA","SPART","SPECC1L","SYNJ1","TERT","TMEM127","TOR1A","TP53","UCHL1","USP48","USP8","VHL","VPS13C","ZNRF3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_ESOPHAGUS_PHYSIOLOGY":{"collection":"C5:HPO","systematicName":"M38256","pmid":"","exactSource":"HP:0025270","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025270","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ESOPHAGUS_PHYSIOLOGY","geneSymbols":["AAAS","AARS1","AASS","ABCA3","ABCD1","ABCD4","ACADVL","ACOX1","ACTA1","ACTB","ACTG2","ACTL6B","ADAMTS2","ADAMTSL2","ADAR","ADAT3","ADCY6","ADD3","ADGRG1","ADH1C","ADNP","AFF3","AFF4","AFG3L2","AGO1","AGO2","AGR2","AGRN","ALDH18A1","ALDH4A1","ALG12","ALG2","ALG9","ALMS1","ALS2","AMER1","AMPD2","ANKRD11","ANXA11","AOPEP","AP3B1","AP3B2","APC2","APOE","APP","AR","ARCN1","ARF1","ARFGEF2","ARHGAP29","ARHGEF38","ARID2","ARNT2","ARSL","ARV1","ARVCF","ARX","ASAH1","ASCC1","ASCL1","ASNS","ASPA","ASXL1","ASXL3","ATAD1","ATG7","ATL1","ATL3","ATN1","ATP11A","ATP13A2","ATP1A2","ATP1A3","ATP2B3","ATP5F1A","ATP6V0A1","ATP6V1A","ATP6V1B2","ATP7A","ATP7B","ATP9A","ATRX","ATXN1","ATXN10","ATXN2","ATXN3","ATXN7","ATXN8OS","B4GALNT1","BAP1","BAZ1B","BCL7B","BICRA","BLM","BMP4","BRAF","BRD4","BUD23","CACNA1A","CACNA1B","CACNA1C","CACNA1G","CACNA1I","CACNA2D1","CAD","CAMK2B","CAMTA1","CARMIL2","CARS2","CASZ1","CAV1","CAVIN1","CCDC22","CCDC47","CCN2","CCR6","CDC6","CDC73","CDH1","CDK13","CDK19","CDKL5","CDKN1A","CDKN1B","CDKN2B","CDKN2C","CDON","CEACAM3","CEACAM6","CELF2","CENPT","CEP85L","CFTR","CHAMP1","CHAT","CHCHD10","CHD7","CHMP1A","CHRNA1","CHRNA3","CHRND","CHRNE","CLCA4","CLCN1","CLCN4","CLIP2","CLN3","CLN8","CLP1","CLTC","CNKSR2","CNTNAP1","COBLL1","COG7","COL13A1","COL1A1","COL2A1","COL4A5","COL4A6","COL5A1","COL5A2","COL7A1","COLQ","COMT","COQ2","COQ4","CORO1A","COX11","CPLX1","CPSF3","CREBBP","CRLF1","CRYAB","CSF1R","CSPP1","CTBP1","CTCF","CTHRC1","CTNNB1","CTNS","CYFIP2","CYP27A1","CYP7B1","DAB1","DALRD3","DCTN1","DCTN4","DCX","DDB1","DDC","DDHD2","DDOST","DEAF1","DES","DGUOK","DHCR7","DHDDS","DISP1","DKK1","DLG1","DLL1","DLX4","DMPK","DNAAF4","DNAJB6","DNAJC13","DNAJC30","DNM1","DNM1L","DPH5","DPP9","DPYSL5","DSP","DST","DTYMK","DYRK1A","DYSF","EBF3","ECM1","EDEM3","EDNRA","EEF1A2","EHMT1","EIF4G1","EIF4H","EIF5A","ELN","ELP1","EP300","EPG5","EPRS1","ERCC6","ERCC8","ERLIN2","ERMARD","EXOSC5","EXOSC9","EXT1","EXT2","FA2H","FAM13A","FARS2","FARSB","FBN1","FBXL4","FBXO28","FBXO7","FBXW7","FCSK","FERMT1","FGF10","FGF12","FGF13","FGF8","FGFR1","FGFR2","FGFR3","FGFRL1","FIG4","FKBP6","FKRP","FLAD1","FLCN","FLII","FLNA","FLNC","FLVCR1","FMR1","FOXG1","FOXH1","FOXP2","FRG1","FTL","FUS","FXN","FZD2","FZR1","GABBR2","GABRA2","GABRA5","GABRB2","GABRD","GABRG2","GALC","GAS1","GBA1","GBA2","GCDH","GCH1","GCLC","GDAP2","GEMIN4","GFAP","GFPT1","GIGYF2","GIPC1","GJB1","GLA","GLB1","GLI2","GLRA1","GLRB","GLUD2","GLYCTK","GMNN","GMPPA","GNAO1","GNAQ","GNAS","GNB1","GNB2","GNB5","GNS","GON7","GOSR2","GP1BB","GPHN","GRB10","GRHL2","GRHL3","GRIA1","GRIN1","GRIN2D","GRM1","GRM7","GSTM3","GTF2I","GTF2IRD1","GTF2IRD2","GUCY1A1","H3-3A","H3-3B","H4C5","HACD1","HCN1","HDAC8","HECTD4","HEPACAM","HEXB","HFE","HGSNAT","HIRA","HIVEP2","HLA-B","HLA-DQA1","HLA-DQB1","HLA-DRB1","HMBS","HMOX1","HNRNPH1","HNRNPH2","HNRNPK","HOXB1","HPCA","HPDL","HPRT1","HRAS","HSD17B10","HSPG2","HTRA1","HTRA2","HTT","IARS2","IDH1","IDH2","IKZF1","IL6ST","IL7R","IPO8","IQSEC2","IRF2BPL","IRF5","IRF6","ITCH","ITGA7","IVNS1ABP","JAG1","JMJD1C","KAT6A","KAT6B","KATNB1","KBTBD13","KCNA2","KCNAB2","KCNB1","KCNC3","KCND3","KCNH1","KCNK9","KCNN4","KCNQ2","KCNQ3","KIAA0319L","KIAA0586","KIF1A","KIF5A","KIT","KLHL40","KLHL41","KLHL7","KMT2A","KMT2B","KMT2C","KMT2D","KNSTRN","KY","LAMA2","LAMB2","LBR","LETM1","LIFR","LIG3","LIMK1","LMNA","LMNB1","LMOD3","LMX1B","LONP1","LRP12","LRP5","LRPPRC","LRRK2","LTBP4","LUZP1","LYRM4","MACF1","MADD","MAGEL2","MAN2C1","MAP1B","MAP2K2","MAP3K20","MAP3K7","MAPK1","MAPK8IP3","MAPT","MATR3","MB","MBD5","MCEE","MECP2","MECR","MED12","MED12L","MED17","MED25","MEGF10","MEIS2","MEN1","METTL27","MFF","MGAT2","MGME1","MID1","MIF","MINPP1","MLXIPL","MMP1","MMP23B","MPZ","MRPS25","MRPS28","MRPS34","MSL3","MSR1","MSX1","MT-ATP6","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND5","MT-ND6","MT-TK","MT-TL1","MT-TT","MT-TV","MT-TW","MTHFS","MTRFR","MUC5B","MUSK","MYH11","MYH14","MYH2","MYH8","MYL2","MYMK","MYO1H","MYO9A","MYORG","MYOT","MYPN","NAA10","NACC1","NALCN","NCAPG2","NCF1","NDE1","NDUFA13","NDUFA6","NDUFA9","NDUFAF2","NDUFS1","NDUFS3","NEB","NECAP1","NECTIN1","NEDD4L","NEFH","NEFL","NEK1","NEPRO","NEU1","NEUROD2","NEXMIF","NF1","NF2","NFIX","NGLY1","NIPBL","NODAL","NONO","NOP56","NOS1","NOTCH2NLC","NOTCH3","NPC1","NPC2","NPHS1","NR4A2","NRCAM","NRXN1","NSD1","NSD2","NSRP1","NTRK1","NTRK2","NUP214","NUP54","NUP62","NUS1","NUTM2B-AS1","OCA2","OCRL","OPA1","OPTN","ORC1","ORC4","ORC6","PABPN1","PACS1","PACS2","PAK1","PANK2","PARN","PARS2","PAX7","PCGF2","PCNA","PDE8B","PDGFRA","PDHA1","PDP1","PDPN","PEX1","PEX16","PFN1","PGM3","PHGDH","PHIP","PHOX2B","PI4KA","PIEZO1","PIEZO2","PIGA","PIGN","PIGT","PIK3CD","PIK3R5","PLA2G6","PLAA","PLCH1","PLEC","PLIN4","PLP1","PLXND1","PMP22","PNKD","POGZ","POLG","POLG2","POLR2A","POLR3A","POLR3B","POR","PORCN","PPM1D","PPP3CA","PRDM13","PRDM16","PRDX3","PRKCG","PRKCSH","PRKCZ","PRKRA","PRMT7","PRNP","PRPH","PRPS1","PRUNE1","PSAP","PSEN1","PSPH","PTCH1","PTS","PUF60","PUS3","PYCR1","PYGM","PYROXD1","QDPR","RAD21","RAI1","RARS1","RARS2","REEP1","RELN","REPS1","RERE","RET","RETREG1","REV3L","RFC2","RHBDF2","RIC1","RILPL1","RLIM","RNASEH1","RNF125","RNF170","RNU4ATAC","RPL10","RREB1","RRM2B","RTEL1","SACS","SALL1","SAMD9","SATB1","SATB2","SCARB2","SCN3A","SCN4A","SCN8A","SCN9A","SCUBE3","SDHA","SDHB","SDHC","SDHD","SEC23A","SEC24C","SEC31A","SEC63","SELENON","SEMA3E","SEPSECS","SERPINA1","SERPING1","SETBP1","SETD2","SETX","SFTPA1","SFTPA2","SFTPC","SH2B1","SHANK3","SHH","SIAH1","SIGMAR1","SIK1","SIN3A","SIX3","SKI","SLC11A1","SLC12A2","SLC13A5","SLC18A3","SLC19A2","SLC19A3","SLC1A2","SLC1A3","SLC1A4","SLC25A1","SLC25A22","SLC25A24","SLC25A4","SLC26A9","SLC2A10","SLC2A3","SLC35A2","SLC37A4","SLC38A3","SLC44A1","SLC46A1","SLC52A2","SLC52A3","SLC5A7","SLC6A14","SLC6A3","SLC6A5","SLC6A9","SLC9A3","SLC9A6","SMARCA2","SMC1A","SMC3","SMC5","SMG9","SNAP25","SNCA","SNCAIP","SNRPB","SOD1","SON","SOX5","SPART","SPATA5","SPEN","SPG11","SPG21","SPG7","SPOP","SPTAN1","SPTBN4","SPTLC1","SPTLC2","SQSTM1","SRCAP","SRD5A3","SRPX2","SSR4","STAC3","STAG1","STAG2","STAT3","STIL","STN1","STUB1","STX1A","STXBP1","SUCLA2","SUCLG1","SUPT16H","SYNGAP1","SYNJ1","SYT1","SYT14","SYT2","SZT2","TAF1","TANGO2","TARDBP","TBC1D23","TBC1D24","TBCD","TBK1","TBL2","TBP","TBX1","TBX4","TCEAL1","TCF4","TDGF1","TECPR2","TERC","TERT","TFAP2A","TFG","TGFB1","TGIF1","TGM6","TIMM22","TIMM8A","TK2","TMEM270","TMEM94","TMTC3","TNNT1","TNPO3","TOP3A","TOR1A","TP63","TPM2","TPM3","TPP1","TRAK1","TRAPPC11","TRAPPC12","TRAPPC6B","TRIO","TRIP4","TRMT10C","TRPV6","TSEN15","TSEN2","TSEN34","TSEN54","TSPYL1","TTBK2","TTC19","TTC26","TUBB4A","TUBB6","TWIST1","TWNK","TYMP","TYMS","UBA5","UBB","UBE3A","UBE4B","UBQLN2","UBTF","UCHL1","UFC1","UFD1","UNC45B","USP7","USP9X","VAC14","VAMP1","VAPB","VARS1","VCP","VPS11","VPS13A","VPS35","VPS35L","VPS37D","VRK1","WAC","WARS2","WASHC5","WDR26","WFS1","WNK1","WWOX","XRCC1","YARS2","YWHAG","YY1","ZBTB18","ZBTB7A","ZC4H2","ZEB2","ZFYVE26","ZIC2","ZMYM2","ZNF699","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_SKIN_ADNEXA_PHYSIOLOGY":{"collection":"C5:HPO","systematicName":"M38257","pmid":"","exactSource":"HP:0025276","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025276","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_SKIN_ADNEXA_PHYSIOLOGY","geneSymbols":["ABCA12","ABCC8","ADAT3","AIP","ALDOB","ALOX12B","ALOXE3","ALPK1","ALX4","ARNT2","ARX","ATL1","ATL3","ATP1A2","ATP1A3","BCL10","BCS1L","BIRC3","BOLA3","BRAF","CACNA1A","CACNA1S","CAMK2B","CASK","CCND1","CDH23","CDH3","CDKN2A","CDSN","CERS3","CFTR","CLCF1","CLCN6","CLCNKB","CLDN10","COG6","COL11A1","COL17A1","COL25A1","COL6A1","COL6A2","COL6A3","COQ2","CRLF1","CST6","CSTB","CTC1","CTNNB1","CTNS","CTSB","CUL4B","DDC","DKC1","DLST","DNMT3A","DPP9","DSG1","DST","EDA","EDA2R","EDAR","EDARADD","ELOVL4","ELP1","EPAS1","ERCC4","ERCC6","ERCC8","FAM111B","FGFR1","FGFR2","FH","FLG","FLRT1","FOXP1","FUCA1","GABRA3","GHR","GJB2","GJB6","GLA","GMPPA","GNA14","GPR101","GRB10","H19","HESX1","HEXB","HINT1","HLA-B","HLA-DRB1","HMBS","HNF1A","HNF4A","HNRNPK","HPGD","HRAS","IGF2","IGHMBP2","IKBKG","IL12B","IL6ST","ITPR2","JAK2","JUP","KCNA1","KCNJ11","KCNJ18","KCTD1","KDF1","KIF1A","KIF1B","KLC2","KLHL7","KRT1","KRT14","KRT16","KRT17","KRT5","KRT6A","KRT6B","KRT74","KRT9","LAMB3","LIFR","LMNB1","LPAR6","MADD","MALT1","MAP2K1","MAP2K2","MAX","MBTPS2","MDH2","MEN1","MLX","MPL","NECTIN1","NF1","NFKBIA","NGF","NGLY1","NHP2","NIPAL4","NLRP3","NOP10","NPM1","NTRK1","OTX2","P4HA2","PARN","PAX9","PERP","PHOX2B","PKP1","PLAA","PNPLA1","POLA1","PRDM12","PRKAR1A","PRNP","PROKR2","PTPN22","RET","RETREG1","RIPK4","ROGDI","RSPO1","RTEL1","RYR1","SCN11A","SCN9A","SDHA","SDHAF2","SDHB","SDHC","SDHD","SDR9C7","SERPINB7","SHANK3","SHQ1","SLC12A3","SLC13A5","SLC18A2","SLC1A3","SLC25A11","SLC39A14","SLCO2A1","SLURP1","SMARCAD1","SOX10","SOX2","SOX3","SPR","SPRED2","SPTLC1","SPTLC2","ST14","STIM1","STS","SUCLA2","SUCLG1","SULT2B1","TAT","TERC","TERT","TGM1","THPO","TINF2","TMEM127","TP53","TP63","TRAF6","TRANK1","TRIP4","TRPV3","TSPEAR","TYMS","UCP2","USB1","VHL","WNK1","WNT10A","WRAP53","YY1","ZFHX2","ZFHX4","ZNRF3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CERVICAL_LYMPHADENOPATHY":{"collection":"C5:HPO","systematicName":"M41487","pmid":"","exactSource":"HP:0025289","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025289","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CERVICAL_LYMPHADENOPATHY","geneSymbols":["ARPC1B","DEF6","ELANE","HMOX1","RAC2","RASGRP1","SLC29A3","TNFRSF1A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MALAR_RASH":{"collection":"C5:HPO","systematicName":"M38258","pmid":"","exactSource":"HP:0025300","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025300","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MALAR_RASH","geneSymbols":["BANK1","BLK","BLM","C1QB","C4A","C4B","CASP10","CDK10","CR2","CTLA4","DNASE1","ETS1","FCGR2A","FCGR2B","FCGR3B","HLA-DRB1","IGHG1","IL10","IRAK1","IRF5","ITGAM","JAZF1","KIAA0319L","MECP2","PDCD1","PTPN22","PXK","SAT1","SPP1","STAT4","STING1","TLR7","TNFAIP3","TNFSF4","TNIP1","TOP3A","TREX1","UBE2L3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ESOPHORIA":{"collection":"C5:HPO","systematicName":"M46255","pmid":"","exactSource":"HP:0025312","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025312","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ESOPHORIA","geneSymbols":["HOXB1","KIDINS220","MECR","SCN8A","TBX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_EXOPHORIA":{"collection":"C5:HPO","systematicName":"M46256","pmid":"","exactSource":"HP:0025313","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025313","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EXOPHORIA","geneSymbols":["AFF4","GJA5","GJA8","HACE1","TRAPPC11"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_OVARIAN_CARCINOMA":{"collection":"C5:HPO","systematicName":"M38259","pmid":"","exactSource":"HP:0025318","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025318","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OVARIAN_CARCINOMA","geneSymbols":["BRCA1","BRCA2","CDKN2A","KRAS","PALB2","PALLD","PDE11A","PRKAR1A","PTCH1","PTEN","RABL3","RAD51C","SMAD4","TP53"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_ARTERIAL_PHYSIOLOGY":{"collection":"C5:HPO","systematicName":"M38260","pmid":"","exactSource":"HP:0025323","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025323","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ARTERIAL_PHYSIOLOGY","geneSymbols":["ABCC6","ACP5","ACTA2","ACTB","ACTC1","ACTG1","ACVRL1","ADA2","ADAMTS13","ADAR","AGXT","ALMS1","ANGPTL6","APP","BANK1","BAZ1B","BCL7B","BLK","BRAF","BRCC3","BUD23","C4A","C4B","CALR","CBS","CCR1","CITED2","CLCNKB","CLIP2","COL1A1","COL1A2","COL3A1","COL4A1","COL5A1","COL5A2","COLGALT1","COQ2","CR2","CTLA4","CTNNB1","DNAJC30","DNASE1","EIF4H","ELN","ENG","ENPP1","EPHB4","ERAP1","ETS1","FAS","FBN1","FCGR2B","FCGR3B","FKBP14","FKBP6","FOXE3","GATA4","GATA6","GDF2","GLA","GNB2","GTF2I","GTF2IRD1","GTF2IRD2","GUCY1A1","HEY2","HLA-B","HLA-DPA1","HLA-DPB1","HLA-DRB1","HRAS","HTRA1","IFIH1","IFNGR1","IGHG1","IKBKG","IL10","IL12A","IL12A-AS1","IL12B","IL23R","IRAK1","IRF5","ITGAM","JAK2","JAZF1","KIAA0319L","KLRC4","KRAS","LBR","LIMK1","LMNA","LOX","LSM11","MAT2A","MECP2","MEFV","METTL27","MFAP5","MLX","MLXIPL","MPL","MYBPC3","MYH11","MYH6","MYH7","MYLK","NAGA","NAGS","NCF1","NKX2-5","NOTCH3","NPPA","NT5E","P4HA2","PDCD1","PIK3C2A","PIK3CA","PLOD1","PLOD3","PRKG1","PRTN3","PTPN22","PXK","RASA1","RFC2","RNASEH2A","RNASEH2B","RNASEH2C","RNF125","RNF213","RNU7-1","SAMHD1","SAT1","SCN5A","SCNN1A","SCNN1B","SCNN1G","SERPINC1","SH2B3","SLC12A3","SLC2A10","SMAD2","SMAD3","SMAD4","SMARCAL1","SON","SPP1","STAT4","STING1","STX1A","TBL2","TBX20","TET2","TGFB2","TGFB3","TGFBR1","TGFBR2","TGFBR3","THPO","THSD1","THSD4","TLL1","TLR4","TLR7","TMEM270","TNFAIP3","TNFSF4","TNIP1","TP53","TREX1","UBAC2","UBE2L3","VPS37D","XYLT1","XYLT2","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SPARSE_MEDIAL_EYEBROW":{"collection":"C5:HPO","systematicName":"M46257","pmid":"","exactSource":"HP:0025325","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025325","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPARSE_MEDIAL_EYEBROW","geneSymbols":["KAT6A","NUP188","SIAH1","SMARCA2","TCF4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_UPGAZE_PALSY":{"collection":"C5:HPO","systematicName":"M38261","pmid":"","exactSource":"HP:0025331","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025331","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UPGAZE_PALSY","geneSymbols":["AASS","AGTPBP1","ATP13A2","ATXN1","DLAT","FTL","KCNC3","NEK9","PLA2G6","POLG","TWNK","VPS13A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DELAYED_ABILITY_TO_STAND":{"collection":"C5:HPO","systematicName":"M41488","pmid":"","exactSource":"HP:0025335","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025335","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DELAYED_ABILITY_TO_STAND","geneSymbols":["ALMS1","BSND","CLCNKA","CLCNKB","COL12A1","DLAT","DOLK","DPM3","GAA","ITPR1","KIDINS220","MPZ","PHEX","SCN2A","SDHB","TTC5","ZNF407"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DELAYED_ABILITY_TO_SIT":{"collection":"C5:HPO","systematicName":"M38262","pmid":"","exactSource":"HP:0025336","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025336","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DELAYED_ABILITY_TO_SIT","geneSymbols":["ACTA1","ADCY5","ADGRL1","AHDC1","ALMS1","AP3B2","CASK","CDK13","CELF2","CHRNB1","CHRND","CLDN11","COL3A1","CTBP1","CTNNB1","CUL3","DAG1","DCPS","DPYSL5","EIF3F","EXTL3","FOXG1","GAA","GALNT2","GET4","GNAI1","GRIK2","GRIN1","GRIN2B","H3-3A","HIVEP2","HK1","INPP5E","KAT6A","LARGE1","MACF1","MBD5","MDH2","MECP2","MEF2C","MKS1","NARS1","NAT8L","NEUROD2","NEXMIF","NGLY1","OPHN1","PAFAH1B1","PCYT2","PGAP1","PLP1","POLR2A","POLR3K","RAB3GAP2","RBL2","ROBO3","SATB1","SDHB","SIK3","SLC18A2","SLC25A42","SLC39A8","SLC9A7","SNX14","SON","TAF8","TRIM8","TRIO","TTC5","TUBB3","UGDH","VAMP1","VPS35L","VPS51","WASF1","WDR26","ZNF142"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LUPUS_ANTICOAGULANT":{"collection":"C5:HPO","systematicName":"M38264","pmid":"","exactSource":"HP:0025343","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025343","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LUPUS_ANTICOAGULANT","geneSymbols":["ADA2","IRAK1","SAT1","SPP1","STAT4","TNFAIP3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DECREASED_CIRCULATING_BETA_2_MICROGLOBULIN_LEVEL":{"collection":"C5:HPO","systematicName":"M47231","pmid":"","exactSource":"HP:0025347","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025347","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_CIRCULATING_BETA_2_MICROGLOBULIN_LEVEL","geneSymbols":["B2M","CIITA","RFX5","RFXANK","RFXAP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_TYPICALLY_DE_NOVO":{"collection":"C5:HPO","systematicName":"M41489","pmid":"","exactSource":"HP:0025352","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025352","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TYPICALLY_DE_NOVO","geneSymbols":["ATN1","ATP11A","CHD8","EIF2AK1","GNB2","KMT2C","MAPK1","PIK3CA","PIK3R2","POLR2A","SEMA6B","ZBTB7A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CELLULAR_PHENOTYPE":{"collection":"C5:HPO","systematicName":"M38265","pmid":"","exactSource":"HP:0025354","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025354","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CELLULAR_PHENOTYPE","geneSymbols":["AARS1","AARS2","ACAD8","ACAD9","ACADM","ACD","ACTC1","ACTN2","ADA","ADA2","ADAM17","ADAMTS3","AFG3L2","AGK","AICDA","AIFM1","AK2","AKT1","ALB","ALG12","ALPK3","AP3B1","ARHGEF1","ARSA","ARVCF","ASAH1","ATM","ATP5F1A","ATP5F1D","ATP5F1E","ATP6AP1","ATP6AP2","ATPAF2","ATXN2","B2M","BACH2","BAP1","BCL10","BCS1L","BLM","BLNK","BOLA3","BRCA1","BRCA2","BRIP1","BTK","BUB1B","C1QBP","CA2","CACNA1S","CAMKMT","CARD10","CARD11","CARD9","CARMIL2","CARS1","CARS2","CASP10","CASP8","CAVIN1","CCBE1","CCND1","CD19","CD247","CD27","CD28","CD320","CD3D","CD3E","CD3G","CD40","CD40LG","CD55","CD70","CD79A","CD79B","CD81","CDAN1","CDCA7","CDK5","CDSN","CENATAC","CHCHD10","CHKB","CIITA","CISD2","CLCN7","CLN3","CLN5","CLN6","CLN8","CNBP","COA3","COA5","COA6","COA8","COG6","COL1A1","COL7A1","COMT","CORO1A","COX16","COX20","COX4I1","COX5A","COX6A2","CPT2","CR2","CRLS1","CSNK2A1","CTLA4","CTNNBL1","CTNS","CTPS1","CXCR4","CYBA","CYBB","CYC1","CYP27A1","DCLRE1B","DCLRE1C","DDB2","DEF6","DGCR2","DGCR6","DGCR8","DGUOK","DLAT","DLD","DNA2","DNAJC21","DNAJC30","DNAJC5","DNM1L","DNMT1","DNMT3B","DOCK2","DOCK8","DOLK","DSG1","DSP","EARS2","ECHS1","EGFR","EHHADH","ELAC2","ELANE","EPG5","ERCC2","ERCC3","ERCC4","ERCC5","ERCC6","ERCC8","ESCO2","ESS2","ETFA","ETFB","ETFDH","EXTL3","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FAS","FASLG","FAT4","FBXL4","FCGR3A","FDX2","FDXR","FH","FLAD1","FLNA","FMR1","FNIP1","FOXP3","FOXRED1","FUS","FXN","GATA3","GATC","GATM","GBA1","GFER","GFM1","GFM2","GGPS1","GJA1","GLRX5","GNE","GNPTAB","GNS","GP1BB","GPC3","GPC4","GPR35","GTF2E2","GTF2H5","GTPBP3","GYG1","HACD1","HADH","HADHA","HELLS","HGSNAT","HIBCH","HIRA","HLA-DQA1","HLA-DQB1","HLA-DRB1","HSD17B10","HYOU1","IBA57","ICOS","IFIH1","IFNGR1","IGHG2","IGHM","IGKC","IGLL1","IKBKB","IKBKG","IKZF1","IL12A","IL12RB1","IL17RA","IL21","IL21R","IL2RA","IL2RB","IL2RG","IL4R","IL6R","IL6ST","IL7R","IPO8","IRAK4","IRF2BP2","IRF5","IRF8","ISCA2","ISCU","ITCH","ITK","IVNS1ABP","JAK3","JMJD1C","KARS1","KCTD7","KIF23","KLHDC8B","KLHL24","KNSTRN","KRAS","KRT14","KRT5","KRT74","KRT9","LAMTOR2","LAT","LBR","LCK","LCP2","LEP","LEPR","LIAS","LIG1","LIG3","LIG4","LMNA","LMOD2","LRBA","LRP5","LRPPRC","LRRC8A","LYRM4","LYRM7","MAD2L2","MAGT1","MALT1","MAN2B1","MCM10","MCM4","MCOLN1","MCPH1","MDM4","MECP2","MECR","MFF","MGAT2","MGME1","MIEF2","MMEL1","MMP1","MOGS","MPLKIP","MPV17","MRE11","MRM2","MRPL12","MRPS14","MRPS16","MRPS22","MRPS23","MRPS25","MRTFA","MS4A1","MS4A2","MSN","MST1","MT-ATP6","MT-CO1","MT-CO2","MT-CO3","MT-CYB","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND4L","MT-ND5","MT-ND6","MT-TE","MT-TF","MT-TH","MT-TL1","MT-TL2","MT-TN","MT-TQ","MT-TS1","MT-TS2","MT-TW","MTFMT","MTHFD1","MTO1","MTOR","MTRFR","MUC5B","MVK","MYD88","MYH14","MYH7","MYSM1","NADK2","NAE1","NARS2","NAXE","NBN","NCKAP1L","NDRG1","NDUFA1","NDUFA10","NDUFA11","NDUFA12","NDUFA13","NDUFA2","NDUFA4","NDUFA6","NDUFA8","NDUFA9","NDUFAF1","NDUFAF2","NDUFAF3","NDUFAF4","NDUFAF5","NDUFAF6","NDUFAF8","NDUFB10","NDUFB11","NDUFB3","NDUFB7","NDUFB8","NDUFB9","NDUFC2","NDUFS1","NDUFS2","NDUFS3","NDUFS4","NDUFS6","NDUFS7","NDUFS8","NDUFV1","NDUFV2","NEB","NEUROG3","NF2","NFE2L2","NFKB1","NFKB2","NFKBIA","NFS1","NFU1","NHEJ1","NHLRC2","NKX2-5","NLRC4","NLRP1","NRAS","NSMCE3","NSUN3","NUBPL","OAS1","OCRL","ORAI1","OTULIN","PALB2","PANX1","PARN","PATL2","PDGFB","PDHA1","PDHB","PDHX","PDP1","PEPD","PET100","PET117","PEX5","PEX6","PGM3","PIGK","PIGM","PIGT","PIK3C2A","PIK3CA","PIK3CD","PIK3CG","PIK3R1","PLA2G7","PLCG2","PLVAP","PMFBP1","PMM2","PNP","PNPLA2","PNPT1","POLE","POLG","POLG2","POMP","POT1","POU2AF1","PPM1B","PREPL","PRF1","PRIM1","PRKCD","PSAP","PSMB4","PSMB8","PSMB9","PSTPIP1","PTCD3","PTEN","PTPRC","PUS1","QRSL1","RAB27A","RAC2","RACGAP1","RAD50","RAD51","RAD51C","RAG1","RAG2","RAI1","RARS2","RASGRP1","RBM8A","REL","RELA","RFWD3","RFX5","RFXANK","RFXAP","RHAG","RIPK1","RMRP","RNF113A","RNF168","RNU4ATAC","RPA1","RPL3L","RREB1","RRM2B","RTEL1","RYR1","SAMD9L","SASH3","SCARB2","SCN4A","SCO1","SCO2","SDHA","SDHB","SDHD","SEC23B","SEC24C","SEMA4D","SETX","SFTPA2","SFTPC","SFXN4","SH2D1A","SH3KBP1","SHH","SIK3","SKIC2","SKIC3","SLC25A10","SLC25A13","SLC25A20","SLC25A26","SLC25A3","SLC25A4","SLC2A1","SLC34A1","SLC35C1","SLC39A4","SLC39A7","SLC39A8","SLC3A1","SLC46A1","SLC5A6","SLC7A7","SLF2","SLX4","SMARCAL1","SMARCB1","SMARCE1","SMO","SON","SP110","SPG7","SPI1","SPIB","SPINK5","SPPL2A","SQSTM1","SRP54","STAT1","STAT2","STAT3","STAT5B","STIM1","STING1","STX11","STXBP2","SUCLA2","SUCLG1","SUFU","SUN5","SYK","TAFAZZIN","TARDBP","TARS1","TBK1","TBX1","TCF3","TCF4","TCN2","TERT","TET2","TFRC","TGFB1","TIMM22","TIMM50","TIMM8A","TIMMDC1","TINF2","TK2","TLR8","TMEM126B","TMEM185A","TMEM70","TNFRSF11A","TNFRSF11B","TNFRSF13B","TNFRSF13C","TNFRSF1B","TNFRSF9","TNFSF12","TNFSF15","TNNI3","TNNT2","TNPO3","TOM1","TONSL","TOP3A","TP53","TPP1","TPP2","TRAF7","TRIP13","TRIT1","TRMT5","TRMU","TRNT1","TSC1","TSFM","TTC19","TTC7A","TTN","TUBB8","TWNK","TXN2","TYK2","TYMP","TYMS","UBE2T","UFD1","UMPS","UNC13D","UNG","UQCC2","UQCC3","UQCRB","UQCRH","UQCRQ","UVSSA","VARS2","VCL","VCP","VPS33A","VPS45","WAS","WEE2","WIPF1","WRAP53","XIAP","XPA","XPC","XRCC2","XRCC4","YARS2","ZAP70","ZBTB24","ZCCHC8","ZEB2","ZFTA","ZMPSTE24","ZNF341","ZP2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ERRATIC_MYOCLONUS":{"collection":"C5:HPO","systematicName":"M46259","pmid":"","exactSource":"HP:0025357","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025357","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ERRATIC_MYOCLONUS","geneSymbols":["ARX","ATP6V0A1","EPM2A","KIF1C","NHLRC1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_UVEAL_ECTROPION":{"collection":"C5:HPO","systematicName":"M38267","pmid":"","exactSource":"HP:0025358","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025358","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UVEAL_ECTROPION","geneSymbols":["COL8A2","CPAMD8","GRHL2","LAMB2","OVOL2","VSX1","ZEB1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INTERICTAL_EEG_ABNORMALITY":{"collection":"C5:HPO","systematicName":"M38268","pmid":"","exactSource":"HP:0025373","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025373","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTERICTAL_EEG_ABNORMALITY","geneSymbols":["AARS1","AASS","ABAT","ABCC8","ACTL6B","ADARB1","ADGRG1","ADGRV1","ADK","AGRN","AIMP2","AKT3","ALDH4A1","ALDH7A1","ALG1","ALG11","ALG13","ALG14","ALG2","ALG3","AMT","AP2M1","AP3B2","APC2","ARFGEF1","ARFGEF2","ARHGEF9","ARV1","ARX","ASNS","ASPA","ATAD1","ATN1","ATP1A2","ATP1A3","ATP6V0A1","ATP6V1A","ATP7A","ATXN10","BRAT1","C1QBP","CABP4","CACNA1A","CACNA1B","CACNA1E","CACNA1G","CACNA1H","CACNA2D1","CACNB4","CAMK2A","CAMSAP1","CARS2","CASK","CCDC88A","CDK19","CDK5","CDKL5","CELF2","CHAT","CHD2","CHRNA2","CHRNA4","CHRNB2","CILK1","CLCN2","CLCN4","CLN5","CLN8","CLTC","CLTCL1","CNKSR2","CNPY3","CNTN2","CNTNAP2","COL13A1","COX4I1","CPA6","CPLX1","CRH","CSTB","CTNNA2","CUL3","CUX2","CYFIP2","D2HGDH","DAG1","DALRD3","DCX","DEPDC5","DHDDS","DMXL2","DNM1","DNM2","DOCK7","DOLK","DPAGT1","DPM2","DPYD","EEF1A2","EFHC1","EPM2A","ERMARD","EXOC8","FBXO28","FGF12","FGF13","FRRS1L","FZR1","GABBR2","GABRA1","GABRA2","GABRA5","GABRB1","GABRB2","GABRB3","GABRD","GABRG2","GAD1","GFM2","GLS","GLUD1","GLYCTK","GNAO1","GNB1","GNB5","GOLGA2","GOSR2","GRIA1","GRIA3","GRIN1","GRIN2A","GRIN2B","GRIN2D","GRM7","GRN","GUF1","HCFC1","HCN1","HIBCH","HID1","HMGCL","IARS2","IER3IP1","IQSEC2","JRK","KANSL1","KCNA1","KCNA2","KCNB1","KCNC1","KCNC2","KCNJ11","KCNMA1","KCNQ2","KCNQ3","KCNT1","KCNT2","KCTD7","KIF1A","LGI1","LONP1","LRPPRC","MAP1B","MAPK10","MDH1","MECP2","MED13L","MED17","MFF","MGAT2","MOGS","MPDU1","MT-TL1","MTOR","MYD88","MYO9A","NACC1","NARS2","NAXD","NBEA","NDUFAF8","NECAP1","NEDD4L","NEUROD2","NEXMIF","NF1","NHLRC1","NPRL2","NPRL3","NSF","NSRP1","NTRK2","NUS1","OGDHL","P4HTM","PACS2","PAFAH1B1","PARS2","PCDH12","PCDH19","PDE2A","PDHA1","PGAP2","PGAP3","PHACTR1","PHGDH","PI4KA","PIDD1","PIGA","PIGG","PIGL","PIGO","PIGP","PIGQ","PIGS","PIGT","PIGV","PIGW","PIGY","PIK3CA","PLAA","PLCB1","PLPBP","PNKP","PNPO","POLG","PPFIBP1","PPP3CA","PRICKLE1","PRKAG2","PRPS1","PRRT2","PSAT1","PTPN23","PTS","RELN","RNF13","ROGDI","RPL10","RUSC2","SAMD12","SATB1","SCARB2","SCN1A","SCN1B","SCN2A","SCN3A","SCN8A","SCN9A","SETBP1","SETD1B","SIK1","SLC12A5","SLC12A6","SLC13A5","SLC18A3","SLC1A2","SLC1A4","SLC25A1","SLC25A10","SLC25A22","SLC25A46","SLC2A1","SLC32A1","SLC35A2","SLC38A3","SLC39A8","SLC5A7","SLC6A1","SLC9A6","SMC1A","SNAP25","SPATA5","SPTAN1","SPTBN1","SRPX2","ST3GAL3","ST3GAL5","STARD7","STRADA","STX1B","STXBP1","SUOX","SYNGAP1","SYNJ1","SYT1","SYT2","SZT2","TBC1D24","TBC1D2B","TBCK","TBL1XR1","TFE3","TGFB1","TIMM50","TRAK1","TRAPPC12","TRIM8","TRPM3","TUBB2A","TUBGCP2","UBA5","UBE3A","UFC1","UGDH","UPB1","VAMP1","VARS1","VARS2","WDR45","WWOX","YEATS2","YME1L1","YWHAG","ZNF148","ZNF526","ZNHIT3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ANTI_THYROID_PEROXIDASE_ANTIBODY_POSITIVITY":{"collection":"C5:HPO","systematicName":"M43462","pmid":"","exactSource":"HP:0025379","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025379","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANTI_THYROID_PEROXIDASE_ANTIBODY_POSITIVITY","geneSymbols":["ADA","FOXP3","GLIS3","ITCH","NFKB2","POMP","RASGRP1","THRB","TSHR"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DORSOCERVICAL_FAT_PAD":{"collection":"C5:HPO","systematicName":"M45465","pmid":"","exactSource":"HP:0025383","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025383","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DORSOCERVICAL_FAT_PAD","geneSymbols":["ALMS1","ARMC5","ATRX","BRAF","CDH23","GNAS","NR3C1","PDE11A","PPP1R15B","PRKACA","PRKAR1A","TP53","TRMT10A","USP48","USP8"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PILL_ROLLING_TREMOR":{"collection":"C5:HPO","systematicName":"M45466","pmid":"","exactSource":"HP:0025387","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025387","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PILL_ROLLING_TREMOR","geneSymbols":["CDKL5","DNAJC6","GABBR2","MECP2","NTNG1","PLA2G6","SMC1A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PULMONARY_INTERSTITIAL_HIGH_RESOLUTION_COMPUTED_TOMOGRAPHY_ABNORMALITY":{"collection":"C5:HPO","systematicName":"M38269","pmid":"","exactSource":"HP:0025389","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025389","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PULMONARY_INTERSTITIAL_HIGH_RESOLUTION_COMPUTED_TOMOGRAPHY_ABNORMALITY","geneSymbols":["ABCA3","ASAH1","ATP11A","BMPR2","COL3A1","CSF2RA","CSF2RB","DPP9","DSP","EIF2AK4","FAM13A","HLA-DPB1","HLA-DRB1","MUC5B","NKX2-1","PARN","RTEL1","SFTPA1","SFTPA2","SFTPB","SFTPC","SLC34A2","STN1","TERC","TERT"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RETICULAR_PATTERN_ON_PULMONARY_HRCT":{"collection":"C5:HPO","systematicName":"M47232","pmid":"","exactSource":"HP:0025390","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025390","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETICULAR_PATTERN_ON_PULMONARY_HRCT","geneSymbols":["ABCA3","ATP11A","DPP9","DSP","FAM13A","MUC5B","PARN","RTEL1","SFTPA1","SFTPA2","SFTPC","STN1","TERC","TERT"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_STARING_GAZE":{"collection":"C5:HPO","systematicName":"M38270","pmid":"","exactSource":"HP:0025401","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025401","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_STARING_GAZE","geneSymbols":["AARS2","AGRN","ATXN1","CHAT","COL13A1","HTT","KCNQ2","KCNT2","MYO9A","NEXMIF","NGLY1","PNKD","PRRT2","SCN2A","SLC18A3","SLC25A1","SLC2A3","SLC5A7","SNAP25","SYNJ1","SYT2","VAMP1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_STOOPED_POSTURE":{"collection":"C5:HPO","systematicName":"M38271","pmid":"","exactSource":"HP:0025403","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025403","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_STOOPED_POSTURE","geneSymbols":["ATP13A2","COL12A1","MECP2","POLG","SLC18A2","SYNJ1","TK2","TMEM106B","WARS2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_VISUAL_FIXATION":{"collection":"C5:HPO","systematicName":"M38272","pmid":"","exactSource":"HP:0025404","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025404","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_VISUAL_FIXATION","geneSymbols":["AMPD2","ASAH1","ASPA","ATF6","CCDC88A","CLCN3","CLP1","CNGA3","CNGB3","DPM1","GBA1","GNAT2","ITPR1","OFD1","PDE6C","PDE6H","PET100","PIGB","PTPN23","RANBP2","RNF13","RPGR","SLC39A8","VPS13D","VPS41","VPS4A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_VISUAL_FIXATION_INSTABILITY":{"collection":"C5:HPO","systematicName":"M38273","pmid":"","exactSource":"HP:0025405","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025405","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VISUAL_FIXATION_INSTABILITY","geneSymbols":["AMPD2","ASAH1","ASPA","CCDC88A","CLCN3","CLP1","ITPR1","PET100","RNF13","SLC39A8","VPS4A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ASTHENIA":{"collection":"C5:HPO","systematicName":"M43463","pmid":"","exactSource":"HP:0025406","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025406","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ASTHENIA","geneSymbols":["ALAS2","DGUOK","LBR","MAN2B1","MTHFD1","NSDHL","PIGA","PLEKHM1","PRORP","SERPINA6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DIFFUSE_ALVEOLAR_HEMORRHAGE":{"collection":"C5:HPO","systematicName":"M38274","pmid":"","exactSource":"HP:0025420","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025420","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DIFFUSE_ALVEOLAR_HEMORRHAGE","geneSymbols":["BCOR","COL3A1","EIF2AK4","FIP1L1","HMOX1","IRF2BP2","NABP1","NLRC4","NPM1","NUMA1","PML","PRKAR1A","RARA","STAT3","STAT5B","TBL1XR1","ZBTB16"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_LARYNX_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M38275","pmid":"","exactSource":"HP:0025423","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025423","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LARYNX_MORPHOLOGY","geneSymbols":["ADARB1","AFF4","AHDC1","AMER1","APC","ARSL","ARVCF","ASAH1","ASXL3","ATP6V1E1","BRF1","C2CD3","CACNA1C","CAPN15","CENPE","CHD7","CILK1","COL12A1","COMT","CREBBP","CTSK","DDRGK1","DLK1","DTYMK","DYNC2H1","DYNC2I1","DYNC2I2","DYNC2LI1","EDN1","EFL1","EIF4A3","EP300","EPHB4","EXTL3","FANCB","FBXW7","FERMT1","FGF10","FGFR2","FGFR3","FLNA","FLNB","FOXE1","FRAS1","FREM2","GALC","GIPC1","GLI3","GMNN","GP1BB","GRIP1","H3-3A","H3-3B","HAAO","HDAC4","HIRA","HNRNPR","HOXD13","HS3ST6","HSPG2","HYLS1","IDH1","IFT80","INTU","JMJD1C","KANSL1","KAT6A","KAT6B","KCNMA1","KIF22","KIF7","KRAS","KRT14","KRT5","LAMA3","LAMB3","LAMC2","LBR","LMNA","LRP12","LRP4","LTBP3","LTBP4","MAP3K7","MATR3","MEG3","MEIS2","MGP","MID1","MT-CYB","MYMK","MYMX","NEK1","NFIX","NIN","NOTCH2NLC","NRCAM","ORC6","PCNT","PHIP","PKDCC","PLG","POLR3A","POR","PPM1D","PRMT7","PRRX1","PSAP","PTH1R","PUF60","RAF1","RALGAPA1","RFX7","RILPL1","ROBO1","RPL10","RREB1","RTL1","SATB2","SCARF2","SEC24C","SEMA3E","SERPING1","SETBP1","SF3B4","SIAH1","SLC26A2","SMAD2","SMAD4","SNIP1","SOX4","SOX9","SPTBN1","SYT1","TBX1","TBX3","TCTN3","TONSL","UBE3B","UFC1","UFD1","VPS13B","WDR35","WRN","XPNPEP2","ZBTB7A","ZIC3","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_LARYNX_PHYSIOLOGY":{"collection":"C5:HPO","systematicName":"M38276","pmid":"","exactSource":"HP:0025424","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025424","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LARYNX_PHYSIOLOGY","geneSymbols":["ANG","ANXA11","ASAH1","ATXN2","BRF1","BTD","CASR","CCNF","CFAP410","CHCHD10","CHMP2B","DAO","DCTN1","EPHA4","ERBB4","FIG4","FUS","GABRG2","GLE1","GLT8D1","GRIN2A","HNRNPA1","MATR3","NEFH","NEK1","OPTN","PFN1","PLP1","PON1","PON2","PON3","PPARGC1A","PRPH","SCN4A","SOD1","SQSTM1","SRPX2","TAF1","TAF15","TARDBP","TBK1","TREM2","TSPYL1","UBE3B","UBQLN2","UNC13A","VAPB","VCP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_BRONCHUS_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M38278","pmid":"","exactSource":"HP:0025426","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025426","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BRONCHUS_MORPHOLOGY","geneSymbols":["ABCA3","AGR2","ALDH18A1","ARHGEF1","ARL2BP","ARSL","ATM","ATP11A","B2M","BACH2","BLM","BLNK","BTK","BTNL2","C1QB","CARD10","CARD11","CARMIL2","CCDC103","CCDC39","CCDC40","CCDC65","CCNO","CD19","CD79A","CD79B","CD81","CD8A","CEACAM3","CEACAM6","CFAP221","CFAP298","CFAP300","CFAP74","CFTR","CLCA4","CR2","CTLA4","CXCR4","DCTN4","DDRGK1","DIAPH1","DNAAF1","DNAAF11","DNAAF2","DNAAF3","DNAAF4","DNAAF5","DNAAF6","DNAH1","DNAH11","DNAH5","DNAH9","DNAI1","DNAI2","DNAJB13","DNAL1","DNMT3B","DOCK8","DPP9","DRC1","DSP","EDNRA","EGFR","EHMT1","ELN","EMILIN1","ERF","FAM13A","FBLN5","FCGR2A","FCHO1","FGFR1","FGFR2","FLNB","FNIP1","FOXJ1","GAS2L2","GAS8","GCLC","GMNN","GNPTAB","GSTM3","HFE","HLA-DRB1","HMOX1","HRAS","HYDIN","ICOS","IDS","IGHG2","IGHM","IGKC","IGLL1","IL10RB","IL17RA","IL21R","IL2RG","IL6ST","IRF2BP2","IRF8","IRF9","KAT6A","KCNN4","KRT14","KRT5","LAT","LRBA","LRRC56","LRRC8A","LTBP4","MAGT1","MALT1","MCIDAS","MGP","MIF","MPEG1","MS4A1","MUC5B","MYH11","MYRF","NBN","NCKAP1L","NDUFA6","NEK10","NFKB1","NFKB2","NME5","NME8","ODAD1","ODAD2","ODAD3","ODAD4","OFD1","ORC4","ORC6","PAK2","PARN","PGM3","PI4KA","PIK3CD","PIK3R1","POLA1","POLE","POR","PRKCD","PTEN","RAC1","RAC2","RASGRP1","RFX7","RIN2","RIPK1","RPGR","RSPH1","RSPH3","RSPH4A","RSPH9","RTEL1","SASH3","SCNN1A","SCNN1B","SCNN1G","SCUBE3","SERPINA1","SFTPA1","SFTPA2","SFTPC","SLC11A1","SLC26A2","SLC26A9","SLC29A3","SLC34A2","SLC39A7","SLC41A1","SLC6A14","SLC9A3","SLF2","SMARCA2","SOX9","SPAG1","SPEF2","SPI1","STAT1","STK36","STK4","STN1","STX1A","STX3","SYK","TAFAZZIN","TAP1","TAP2","TAPBP","TCF3","TERC","TERT","TET2","TGFB1","TNFRSF13B","TNFRSF13C","TNFRSF9","TNFSF12","TOM1","TP73","TPP2","TTC12","TTC26","UNC119","USP26","WDR1","ZMYND10","ZNF341","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_BRONCHUS_PHYSIOLOGY":{"collection":"C5:HPO","systematicName":"M38279","pmid":"","exactSource":"HP:0025427","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025427","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BRONCHUS_PHYSIOLOGY","geneSymbols":["AARS1","ACAN","ALOX5","ATRX","CARS1","CCL11","DAXX","ERCC2","ERCC3","GALNS","GTF2E2","GTF2H5","HLA-G","HNMT","IFNGR1","IL13","MPLKIP","MUC7","PLA2G7","PTGER2","RNF113A","SCGB3A2","SDHD","TARS1","TBX21","TNF","TSPYL1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BRONCHOSPASM":{"collection":"C5:HPO","systematicName":"M43464","pmid":"","exactSource":"HP:0025428","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025428","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BRONCHOSPASM","geneSymbols":["AARS1","ACAN","ATRX","CARS1","DAXX","ERCC2","ERCC3","GTF2E2","GTF2H5","MPLKIP","RNF113A","SDHD","TARS1","TSPYL1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CRY":{"collection":"C5:HPO","systematicName":"M38280","pmid":"","exactSource":"HP:0025429","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025429","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CRY","geneSymbols":["ABAT","AGRN","ALPL","ASAH1","ASPA","ATP1A3","ATP5F1A","ATRX","CHAT","CHRNA1","CHRND","CHRNE","COL13A1","COLQ","COQ9","CRYAB","CTNND2","EXOSC9","FIG4","FKTN","FTO","GFPT1","GGPS1","HACD1","IGHMBP2","KDM6A","KMT2D","LAMA2","LAMA3","LAMB2","LYRM4","MAGEL2","MECP2","MYO9A","NDUFS8","NIPBL","OPA1","PEX19","PNPO","PPP1R21","RAPSN","RYR1","SCN4A","SEMA5A","SIM1","SLC18A3","SLC25A1","SLC5A7","SNAP25","SNRPN","SYT2","TPM3","TRIP4","TSHR","TSPYL1","TTC26","UBA1","VAMP1","VARS1","VPS13B","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HIGH_PITCHED_CRY":{"collection":"C5:HPO","systematicName":"M45467","pmid":"","exactSource":"HP:0025430","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025430","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HIGH_PITCHED_CRY","geneSymbols":["ABAT","ALPL","ATP1A3","ATP5F1A","FIG4","MECP2","PNPO"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_REDUCED_HEMOLYTIC_COMPLEMENT_ACTIVITY":{"collection":"C5:HPO","systematicName":"M47233","pmid":"","exactSource":"HP:0025434","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025434","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_HEMOLYTIC_COMPLEMENT_ACTIVITY","geneSymbols":["C1QB","C4A","C5","C6","SERPING1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INCREASED_CIRCULATING_LACTATE_DEHYDROGENASE_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M38282","pmid":"","exactSource":"HP:0025435","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025435","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_CIRCULATING_LACTATE_DEHYDROGENASE_CONCENTRATION","geneSymbols":["ABCG8","ACAD9","AIFM1","AKR1D1","ALDOA","CALR","CAV3","CBLIF","CD46","CDAN1","CFH","CFI","CHEK2","CPT2","DHFR","FLI1","GAA","HBB","HELLPAR","HLA-DRB1","HMGCS2","HMOX1","IRAK1","JAK2","KCNN4","KIF23","KLF1","KY","LARGE1","LIPA","LPIN1","LYST","MLIP","MPL","MT-CO1","MT-CO3","MTHFD1","MVK","MYC","NSUN2","OBSCN","OCRL","PEX2","PFKM","PIEZO1","PIGA","PIK3CG","PITRM1","PLA2G6","PLEC","PNPLA2","RB1","RHAG","RHCE","RHD","RPS14","SAT1","SLC19A1","SLC25A13","SLC4A1","SLC7A7","SPP1","STAT4","STIM1","TCIRG1","TET2","TP53","USB1","VPS13A","XK","ZNFX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ELEVATED_SERUM_11_DEOXYCORTISOL":{"collection":"C5:HPO","systematicName":"M46260","pmid":"","exactSource":"HP:0025436","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025436","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELEVATED_SERUM_11_DEOXYCORTISOL","geneSymbols":["CDKN2A","CTNNB1","CYP11B1","CYP11B2","POR","PRKAR1A","TERT","TP53","ZNRF3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PHARYNGITIS":{"collection":"C5:HPO","systematicName":"M38283","pmid":"","exactSource":"HP:0025439","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025439","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PHARYNGITIS","geneSymbols":["ALG12","CLPB","CXCR4","ELANE","GFI1","HLA-B","HLA-DPB1","HLA-DRB1","NFKB2","P4HA2","PTPN22","SH2D1A","SLC29A3","SRP19","SRP54","TCIRG1","TNFRSF1A","XIAP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_TESTICULAR_ADRENAL_REST_TUMOR":{"collection":"C5:HPO","systematicName":"M43465","pmid":"","exactSource":"HP:0025451","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025451","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TESTICULAR_ADRENAL_REST_TUMOR","geneSymbols":["CYP11B1","MC2R","MRAP","NNT","PDE11A","PRKAR1A","STAR","TXNRD2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PYODERMA_GANGRENOSUM":{"collection":"C5:HPO","systematicName":"M38284","pmid":"","exactSource":"HP:0025452","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025452","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PYODERMA_GANGRENOSUM","geneSymbols":["CLPB","ELANE","GFI1","MEFV","NFKB1","OTULIN","PSTPIP1","SRP19","SRP54","TCIRG1","WDR1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CSF_METABOLITE_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M38285","pmid":"","exactSource":"HP:0025454","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025454","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CSF_METABOLITE_CONCENTRATION","geneSymbols":["AASS","ADAR","ADK","AIFM1","ALDH4A1","ALDH5A1","AMT","ASL","ASPA","ATP5PO","ATPAF2","BOLA3","CLPB","COA8","COQ8A","COX10","COX11","COX14","COX20","COX4I1","COX6B1","COX8A","DARS2","DDC","DHFR","DLAT","DLD","DNM1L","ECHS1","ERCC6","FARS2","FOXRED1","GCH1","GFM1","GFM2","GLUL","GLYCTK","HPDL","HSD17B10","HTRA2","IBA57","IFIH1","IMPDH2","KARS1","LONP1","LRPPRC","LSM11","LYRM4","LYRM7","MDH2","MECP2","MPV17","MRPS34","MT-ATP6","MT-CO1","MT-CO2","MT-CO3","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND5","MT-ND6","MT-TF","MT-TH","MT-TK","MT-TL1","MT-TN","MT-TQ","MT-TS1","MT-TS2","MT-TV","MT-TW","MTFMT","NADK2","NARS2","NAXE","NDUFA1","NDUFA10","NDUFA11","NDUFA12","NDUFA4","NDUFA6","NDUFA8","NDUFAF1","NDUFAF2","NDUFAF3","NDUFAF4","NDUFAF5","NDUFAF8","NDUFB10","NDUFB11","NDUFB3","NDUFB8","NDUFB9","NDUFS1","NDUFS2","NDUFS3","NDUFS4","NDUFS6","NDUFS7","NDUFS8","NDUFV1","NDUFV2","NFU1","NGLY1","NR4A2","NUBPL","PDHA1","PDHX","PET100","PET117","PNPLA8","PNPO","PNPT1","PSAT1","PTS","RARS2","RMND1","RNASEH2A","RNASEH2B","RNASEH2C","RNU7-1","RPIA","RRM2B","SAMHD1","SCO2","SLC13A3","SLC25A19","SLC25A4","SLC2A1","SLC31A1","SLC39A8","SLC6A3","SPTBN1","STAT2","SUCLA2","SUCLG1","SURF1","TBK1","TH","TICAM1","TIMM50","TIMMDC1","TLR3","TMEM126B","TPK1","TRAF3","TRAPPC12","TREX1","TRMT10C","TSPOAP1","TXN2","UNC93B1","UQCC2","UQCC3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CSF_PROTEIN_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M38286","pmid":"","exactSource":"HP:0025456","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025456","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CSF_PROTEIN_CONCENTRATION","geneSymbols":["ABHD5","ALDH4A1","ARSA","ATP1A2","BCAT2","BTNL2","CACNA1A","CD59","EGR2","FTL","GALC","GBE1","GFAP","HLA-DQB1","HLA-DRB1","LIG3","LMNB1","MICU1","MPZ","MT-CO1","MT-CO2","MT-CO3","MT-ND1","MT-ND4","MT-ND5","MT-ND6","MT-TF","MT-TH","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TW","NDUFS4","NGLY1","NOTCH2NLC","OCLN","PEX7","PHYH","PMP22","POLG","PRF1","PRNP","PRRT2","PRX","PSAP","RANBP2","RRM2B","SCN1A","SLC12A2","SLC12A6","SUMF1","TBK1","TICAM1","TLR3","TRAF3","TTR","TXN2","TYMP","UNC93B1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CELL_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M38287","pmid":"","exactSource":"HP:0025461","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025461","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CELL_MORPHOLOGY","geneSymbols":["ACD","ACTC1","ACTN2","ALPK3","ATXN2","CACNA1S","COA5","DNAJC21","DOLK","DSP","GYG1","KLHL24","LIG3","LMOD2","MDM4","PANX1","PARN","PATL2","PEX6","PNPLA2","POLG","POT1","RELA","RPA1","RPL3L","RRM2B","RTEL1","RYR1","TERT","TINF2","TNNI3","TNNT2","TP53","TUBB8","TYMP","TYMS","VCL","WEE2","WRAP53","ZCCHC8","ZFTA","ZP2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CIRCULATING_BETA_GLOBULIN_LEVEL":{"collection":"C5:HPO","systematicName":"M38288","pmid":"","exactSource":"HP:0025465","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025465","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_BETA_GLOBULIN_LEVEL","geneSymbols":["ALB","B2M","CIITA","FTH1","RFX5","RFXANK","RFXAP","TF"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPERPIGMENTED_PAPULE":{"collection":"C5:HPO","systematicName":"M45468","pmid":"","exactSource":"HP:0025473","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025473","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERPIGMENTED_PAPULE","geneSymbols":["FLNA","IDH1","KIT","KRT5","POFUT1","POGLUT1","PSENEN"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ERYTHEMATOUS_PLAQUE":{"collection":"C5:HPO","systematicName":"M41491","pmid":"","exactSource":"HP:0025474","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025474","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ERYTHEMATOUS_PLAQUE","geneSymbols":["AP1S3","CARD14","COL2A1","COL7A1","EBP","HAVCR2","IL36RN","KRT10","LDHA","MEFV","MPDU1","RASA1","SDHD","TRPM4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ATRIAL_STANDSTILL":{"collection":"C5:HPO","systematicName":"M38289","pmid":"","exactSource":"HP:0025478","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025478","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ATRIAL_STANDSTILL","geneSymbols":["CASQ2","GJA5","NPPA","RYR2","SCN5A","TRDN"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CIRCULATING_THYROGLOBULIN_LEVEL":{"collection":"C5:HPO","systematicName":"M43466","pmid":"","exactSource":"HP:0025483","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025483","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_THYROGLOBULIN_LEVEL","geneSymbols":["DUOX2","DUOXA2","FOXI1","GLIS3","HESX1","IYD","KCNJ10","LHX3","LHX4","PAX8","POU1F1","PROP1","SLC26A4","SLC35A2","SLC5A5","TG","THRB","TPO","TRHR","TSHB","TSHR"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INCREASED_CIRCULATING_THYROGLOBULIN_LEVEL":{"collection":"C5:HPO","systematicName":"M46261","pmid":"","exactSource":"HP:0025484","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025484","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_CIRCULATING_THYROGLOBULIN_LEVEL","geneSymbols":["DUOX2","FOXI1","GLIS3","KCNJ10","PAX8","SLC26A4","SLC35A2","THRB","TSHR"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_BLADDER_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M38290","pmid":"","exactSource":"HP:0025487","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025487","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_BLADDER_MORPHOLOGY","geneSymbols":["ACTG2","ALDH18A1","ALG9","AQP2","ATP7A","AVPR2","BAZ1B","BCL7B","BUD23","CC2D2A","CCNQ","CDH11","CLIP2","COL1A1","COL1A2","COL3A1","COL5A1","COL5A2","DNAJC30","EFEMP2","EIF4H","ELN","FBLN5","FKBP14","FKBP6","FOXF1","FREM2","G6PC3","GRIP1","GTF2I","GTF2IRD1","GTF2IRD2","ISL1","ITGA6","ITGB4","KRAS","LAMA3","LAMB3","LAMC2","LIMK1","LMOD1","LRIG2","LTBP1","LTBP4","MBTPS2","MED12","METTL27","MKKS","MKS1","MLXIPL","MYH11","MYL9","MYLK","MYOCD","MYRF","NCF1","NDUFB8","NKX2-1","PAH","PIGN","PLEC","PLOD1","POR","RAC2","RFC2","ROBO1","SALL4","SLC35A2","SMAD3","STK11","STX1A","TBL2","TMEM270","TP63","UPB1","VPS37D","WNT4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PALMOPLANTAR_ERYTHEMA":{"collection":"C5:HPO","systematicName":"M46262","pmid":"","exactSource":"HP:0025493","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025493","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PALMOPLANTAR_ERYTHEMA","geneSymbols":["DSP","GJA1","GJA5","GJA8","WNT10A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_OVERWEIGHT":{"collection":"C5:HPO","systematicName":"M38291","pmid":"","exactSource":"HP:0025502","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025502","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OVERWEIGHT","geneSymbols":["ABCB4","ABCC8","ACADVL","ADGRL1","AP1S3","AP4B1","AP4E1","AP4M1","AP4S1","APPL1","ASH1L","BLK","CEL","CFAP418","CHD8","CTSK","FOXP1","GCK","HESX1","HNF1A","HNF4A","IGSF1","IL36RN","INS","KCNJ11","KLF11","LHX3","LHX4","NEUROD1","PAX4","PDSS1","PDX1","POU1F1","PROP1","SATB1","SLC9A7","SPG11","SPTBN1","TAOK1","THOC2","TMEM218","TRHR","TRIP4","UNC45B","USP7","ZBTB7A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MORNING_GLORY_ANOMALY":{"collection":"C5:HPO","systematicName":"M38292","pmid":"","exactSource":"HP:0025514","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025514","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MORNING_GLORY_ANOMALY","geneSymbols":["DNM1L","HMX1","OPA1","PAX2","PAX6","TMEM237"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPOPLASTIC_HIPPOCAMPUS":{"collection":"C5:HPO","systematicName":"M38293","pmid":"","exactSource":"HP:0025517","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025517","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASTIC_HIPPOCAMPUS","geneSymbols":["ATP1A3","CAMTA1","CARS2","CLCN3","EML1","GRIN1","MTHFD1","NDE1","OSTM1","POU4F1","SCN1A","SLC35A2","STAMBP","TCF4","TUBA1A","VPS13A","VPS51"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PSORIASIFORM_LESION":{"collection":"C5:HPO","systematicName":"M47234","pmid":"","exactSource":"HP:0025526","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025526","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PSORIASIFORM_LESION","geneSymbols":["CARMIL2","IL7R","LDHA","LRBA","RIGI"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_B_CELL_SUBSET_DISTRIBUTION":{"collection":"C5:HPO","systematicName":"M41492","pmid":"","exactSource":"HP:0025539","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025539","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_B_CELL_SUBSET_DISTRIBUTION","geneSymbols":["ARHGEF1","BACH2","CD19","CTNNBL1","CTPS1","ELF4","FNIP1","HYOU1","ICOS","IKBKB","IL21","IL6R","IRF2BP2","LCP2","LRBA","PIK3CD","PIK3R1","PLCG2","POMP","PRKCD","RASGRP1","REL","SOCS1","SP110","TET2","TOM1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_T_CELL_SUBSET_DISTRIBUTION":{"collection":"C5:HPO","systematicName":"M38294","pmid":"","exactSource":"HP:0025540","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025540","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_T_CELL_SUBSET_DISTRIBUTION","geneSymbols":["AP3B1","ATM","ATP6AP2","BCL10","BCL11B","BLM","CARD11","CARD9","CASP10","CASP8","CD247","CD3D","CD3E","CD3G","CD4","CD8A","CIITA","CTNNBL1","CTPS1","DCLRE1C","DEF6","DIAPH1","DOCK8","EPG5","EXTL3","FAS","FASLG","FOXN1","FOXP3","GATA2","HLA-DPB1","IKBKB","IL2RA","IL2RB","IL2RG","IL7R","ITK","IVNS1ABP","KNSTRN","LAT","LCK","LCP2","LEP","LEPR","LIG1","MAGT1","MYC","NCKAP1L","NSMCE3","OTULIN","PGM3","PIK3CD","PIK3CG","PIK3R1","PNP","POMP","PRKCD","RAG1","RAG2","RASGRP1","RFX5","RFXANK","RFXAP","RHOH","SASH3","SMARCAL1","SYK","TCF3","TOM1","UNC119","WAS","WDR1","WIPF1","ZAP70"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_MEAN_CORPUSCULAR_HEMOGLOBIN_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M38295","pmid":"","exactSource":"HP:0025546","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025546","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MEAN_CORPUSCULAR_HEMOGLOBIN_CONCENTRATION","geneSymbols":["AARS1","ANK1","CARS1","CD46","CFH","CFI","EPB42","ERCC2","ERCC3","GTF2E2","GTF2H5","HBB","HELLPAR","KCNN4","MPLKIP","PIEZO1","RHAG","RNF113A","SLC4A1","SPTA1","SPTB","TARS1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DECREASED_MEAN_CORPUSCULAR_HEMOGLOBIN_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M38296","pmid":"","exactSource":"HP:0025547","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025547","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_MEAN_CORPUSCULAR_HEMOGLOBIN_CONCENTRATION","geneSymbols":["CD46","CFH","CFI","HBB","HELLPAR","RHAG"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INCREASED_MEAN_CORPUSCULAR_HEMOGLOBIN_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M38297","pmid":"","exactSource":"HP:0025548","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025548","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_MEAN_CORPUSCULAR_HEMOGLOBIN_CONCENTRATION","geneSymbols":["AARS1","ANK1","CARS1","EPB42","ERCC2","ERCC3","GTF2E2","GTF2H5","KCNN4","MPLKIP","PIEZO1","RNF113A","SLC4A1","SPTA1","SPTB","TARS1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_OPTIC_NERVE_MISROUTING":{"collection":"C5:HPO","systematicName":"M41494","pmid":"","exactSource":"HP:0025551","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025551","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OPTIC_NERVE_MISROUTING","geneSymbols":["MC1R","OCA2","SLC38A8","SLC45A2","TYRP1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_MORPHOLOGY_OF_THE_CHOROIDAL_VASCULATURE":{"collection":"C5:HPO","systematicName":"M38298","pmid":"","exactSource":"HP:0025568","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025568","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MORPHOLOGY_OF_THE_CHOROIDAL_VASCULATURE","geneSymbols":["ABCC6","AGXT","APOE","C1QTNF5","CCM2","CFH","CFHR1","CFHR3","CFI","CLCN2","CLEC3B","EFEMP1","ENPP1","FBLN1","FBLN5","FBN2","GNAQ","HLA-A","HMCN1","KRIT1","MAPKAPK3","PDCD10","PIK3CA","PRPH2","TIMP3","XYLT1","XYLT2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MILD_MYOPIA":{"collection":"C5:HPO","systematicName":"M46263","pmid":"","exactSource":"HP:0025573","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025573","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MILD_MYOPIA","geneSymbols":["AHDC1","COL11A2","GNB3","H4C5","OFD1","POGZ"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_INFERIOR_VENA_CAVA_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M47235","pmid":"","exactSource":"HP:0025576","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025576","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_INFERIOR_VENA_CAVA_MORPHOLOGY","geneSymbols":["ACVR2B","CCDC103","CCDC39","CCDC40","CCDC65","CCNO","CFAP221","CFAP298","CFAP300","CFAP74","DNAAF1","DNAAF11","DNAAF2","DNAAF3","DNAAF4","DNAAF5","DNAAF6","DNAH1","DNAH11","DNAH5","DNAH9","DNAI1","DNAI2","DNAJB13","DNAL1","DRC1","FOXJ1","GAS2L2","GAS8","HYDIN","KDM3B","LRRC56","MCIDAS","MMP21","NEK10","NME5","NME8","ODAD1","ODAD2","ODAD3","ODAD4","OFD1","RPGR","RSPH1","RSPH3","RSPH4A","RSPH9","SMOC1","SPAG1","SPEF2","STK36","TTC12","ZMYND10"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_LEFT_ATRIUM_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M38299","pmid":"","exactSource":"HP:0025579","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025579","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LEFT_ATRIUM_MORPHOLOGY","geneSymbols":["BANF1","FHL1","FHOD3","FLNC","FOCAD","GYS1","KIF20A","LMOD2","MYH7","MYL2","MYL3","MYPN","NAA10","NPPA","NUP155","PLD1","RARB","SCN1B","SCN5A","SGO1","STRA6","TLL1","TNNI3","TNNT2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_POSTERIOR_BLEPHARITIS":{"collection":"C5:HPO","systematicName":"M43468","pmid":"","exactSource":"HP:0025610","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025610","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POSTERIOR_BLEPHARITIS","geneSymbols":["GATA1","GJB2","GJB6","MBTPS2","SREBF1","UROD","UROS"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FOCAL_EMOTIONAL_SEIZURE":{"collection":"C5:HPO","systematicName":"M41495","pmid":"","exactSource":"HP:0025613","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025613","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOCAL_EMOTIONAL_SEIZURE","geneSymbols":["GLI3","GRIN1","KCNQ2","KCNT1","MTHFS","NGLY1","PACS1","PHGDH","PIGA","PLCB1","SCN1A","SCN2A","SLC12A5","SLC25A22","SLC38A3","SMO","TBC1D24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABSCESS":{"collection":"C5:HPO","systematicName":"M38301","pmid":"","exactSource":"HP:0025615","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025615","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSCESS","geneSymbols":["ABCB4","ACVRL1","B2M","BLM","BRCA1","BRCA2","BTK","CARMIL2","CDKN2A","CTSC","CYBA","CYBB","CYBC1","DDR2","DLX3","DMP1","ELANE","ELF4","ENG","ENPP1","FGF23","FGFR3","G6PC3","GJB2","GJB6","IGHG2","IGHM","IGKC","IKBKB","IKZF3","IL10RA","IL10RB","IL17RA","IL1RN","IL6R","IL6ST","IRAK4","ITGB2","KRAS","LCK","LCP2","MEFV","MNX1","MPEG1","MYD88","NCF1","NCF2","NCF4","NTRK1","OTULIN","PALB2","PALLD","PGM3","PHEX","PI4KA","PKHD1","PSEN1","PSENEN","PSTPIP1","RABL3","RAC2","RIPK1","SMAD4","STAT3","TGFB1","TP53","TTC7A","UBE2A","VANGL1","WDR1","ZNF341"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_URETER_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M38302","pmid":"","exactSource":"HP:0025633","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025633","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_URETER_MORPHOLOGY","geneSymbols":["ACTB","ACTG1","ACTG2","ALG9","APC2","APRT","AQP2","ARID1B","ARX","AVPR2","AXIN1","B3GLCT","B9D1","B9D2","BBS12","BCOR","BRCA1","BRCA2","BRIP1","CASK","CC2D2A","CCNQ","CDKL5","CEP290","CEP55","CHRM3","COL18A1","CPT2","CSPP1","DDB1","DMXL2","DYNC2LI1","EDNRA","EPG5","ERCC4","ERCC6","ERCC8","EVC","EVC2","FAM20C","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FIBP","FLNA","FOXF1","FREM2","FUZ","GATA6","GLI1","GLI3","GNAO1","GPC3","GPC4","GRIN1","GRIP1","GRM7","HNF1B","HPSE2","HS2ST1","IFT140","ITGA6","ITGB4","KCNA1","KCTD1","KIF14","LAMA3","LAMB3","LAMC2","LHX1","LMNA","LMOD1","LONP1","MAD2L2","MAPRE2","MBTPS2","MED12","MKKS","MKS1","MYH11","MYLK","NAA10","NADSYN1","NCAPG2","NDUFAF3","NEUROD2","NODAL","NPHP3","NSD1","PAK2","PALB2","PBX1","PEX6","PIEZO2","PIGN","PIGP","PIGQ","PIGT","PLD1","PLEC","PNKP","PORCN","PRKACA","PRKACB","PRPS1","PSMD12","RAB23","RAD51","RAD51C","RBM8A","RFWD3","RIPK4","RNU4ATAC","RPGRIP1","RPGRIP1L","SCN1B","SCN2A","SETBP1","SETD2","SIK1","SLC22A12","SLC25A22","SLC32A1","SLC6A17","SLX4","SMC3","SOS1","SOS2","SOX17","SPINT2","TBX18","TCTN1","TCTN2","TCTN3","TMEM107","TMEM216","TMEM231","TMEM237","TMEM67","TP63","TRIM8","TXNDC15","UBE2T","VANGL1","WFS1","XRCC2","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_URETER_PHYSIOLOGY":{"collection":"C5:HPO","systematicName":"M38303","pmid":"","exactSource":"HP:0025634","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025634","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_URETER_PHYSIOLOGY","geneSymbols":["ACTG2","AFF4","ANKLE2","APC2","ARNT2","ARVCF","ASPM","ASXL1","ATP7A","ATRX","BAZ1B","BCL7B","BICC1","BNC2","BPTF","BRD4","BRF1","BUD23","CCBE1","CCNQ","CDC45","CDH11","CDK5RAP2","CDK6","CDKN1C","CENPE","CENPJ","CEP135","CEP152","CEP63","CHD4","CHD7","CHRM3","CHRNA3","CIT","CLIP2","COL18A1","COMT","COPB2","CREBBP","CTLA4","DACT1","DCDC2","DDX6","DHCR7","DNAJC30","DNMT3A","DSTYK","DVL3","EBF3","EFEMP2","EHMT1","EIF4H","ELN","EP300","EXT1","EYA1","FANCF","FANCI","FBLN5","FGF10","FGFR2","FGFR3","FKBP6","FLNA","FUZ","GATA3","GNB1","GP1BB","GREB1L","GRHPR","GTF2I","GTF2IRD1","GTF2IRD2","H4C9","HAAO","HDAC8","HIRA","HLA-DPA1","HLA-DPB1","HNF1B","HNRNPK","HNRNPU","HOXA13","HPSE2","HSPA9","IGF2","ISL1","JAG1","JMJD1C","KANSL1","KAT5","KCNQ1","KCNQ1OT1","KDM6A","KIF14","KIFBP","KMT2C","KMT2D","KNL1","LAMA3","LAMB3","LAMC2","LIMK1","LRIG2","LTBP1","MAP3K7","MAPKAPK5","MAPKBP1","MBTPS2","MCM7","MCPH1","MED12","METTL27","METTL5","MFSD2A","MID1","MLXIPL","MNX1","MYCN","MYOD1","NCAPD3","NCAPG2","NCF1","NFIA","NIPBL","NKX2-1","NODAL","NRIP1","NSD1","NUP37","OTUD5","PAK2","PAX2","PAX6","PBX1","PHC1","PIGA","PIGL","PIGN","PIGO","PIGQ","PIGT","PLXNA1","POLR3A","POR","PPP3CA","PRMT7","PRTN3","PSMD12","PTPN22","PUF60","PYCR2","RAD21","RALGAPA1","RARB","RBCK1","RBM8A","RECQL4","RERE","RFC2","ROBO2","RPL11","RREB1","SALL1","SALL4","SARS1","SASS6","SDHA","SDHAF1","SDHB","SDHD","SEC24C","SEMA3E","SETBP1","SETD2","SF3B2","SH2B1","SHANK3","SIX1","SIX5","SLC26A1","SLC35A2","SMC1A","SMC3","SOX17","SPOP","STAMBP","STIL","STRA6","STX1A","TAF13","TBL2","TBX1","TBX18","TMEM270","TNXB","TP63","TRAPPC10","TRAPPC14","TRPS1","TRRAP","UBE2A","UFC1","UFD1","UNC45A","VANGL1","VPS37D","WARS1","WDR62","WNT7B","YY1","ZEB2","ZMIZ1","ZMYM2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FETAL_NECK_ANOMALY":{"collection":"C5:HPO","systematicName":"M45469","pmid":"","exactSource":"HP:0025667","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025667","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FETAL_NECK_ANOMALY","geneSymbols":["ABCC6","ADARB1","ALG9","ARSL","ATN1","ATP6V1B2","BAZ1B","BCL7B","BMPER","BRD4","BUB1","BUB1B","BUB3","BUD23","CBL","CEP57","CHMP2B","CLIP2","CSGALNACT1","DHCR7","DHPS","DNAJC30","DOHH","EBP","EFNB1","EIF4H","ELN","ENPP1","EPHB4","FGFR3","FIG4","FKBP6","FOXF1","GATA1","GPC6","GRN","GTF2I","GTF2IRD1","GTF2IRD2","HDAC8","HNRNPK","HRAS","KRAS","LAMA5","LBR","LIMK1","LRPPRC","LZTR1","MAPT","METTL27","MLXIPL","MRAS","MUSK","MYL11","NCF1","NIPBL","NRAS","ODC1","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PIGN","PSAT1","PSEN1","PTPN11","RAD21","RAF1","RASA2","RFC2","RIT1","RNU4ATAC","RRAS","RRAS2","SLC26A2","SLC31A1","SLC35A2","SMC1A","SMC3","SOS1","SOS2","SPRED2","SQSTM1","STAG1","STX1A","TBC1D24","TBL2","TCF4","TMEM106B","TMEM270","TRAF7","TREM2","TRIP11","TRIP13","TXNDC15","VAC14","VCP","VPS37D"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FETAL_PERICARDIAL_EFFUSION":{"collection":"C5:HPO","systematicName":"M47236","pmid":"","exactSource":"HP:0025671","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025671","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FETAL_PERICARDIAL_EFFUSION","geneSymbols":["CRB2","HNRNPK","LARS2","MDFIC","RHD","THSD1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FETAL_PLEURAL_EFFUSION":{"collection":"C5:HPO","systematicName":"M47237","pmid":"","exactSource":"HP:0025676","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025676","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FETAL_PLEURAL_EFFUSION","geneSymbols":["CRLS1","MDFIC","NUP88","RHD","THSD1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ANHYDRAMNIOS":{"collection":"C5:HPO","systematicName":"M47238","pmid":"","exactSource":"HP:0025700","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025700","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANHYDRAMNIOS","geneSymbols":["FGF20","GFRA1","ITGA8","ROBO1","TCTN2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_EARLY_YOUNG_ADULT_ONSET":{"collection":"C5:HPO","systematicName":"M46264","pmid":"","exactSource":"HP:0025708","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025708","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EARLY_YOUNG_ADULT_ONSET","geneSymbols":["ALG10B","B2M","B4GALNT1","BVES","CARD9","CEBPE","CLCN1","CNNM2","COL2A1","DGKE","DNAJC3","DSP","EIF2AK2","ERCC6L2","ESR2","GPIHBP1","GYG1","HCN4","HGSNAT","HTRA1","INS","KCNA5","KCNE1","KCNH2","KCNJ2","KCNJ5","KCTD17","LHB","LIG3","LMNA","NRCAM","P2RX2","PIK3R5","PMP2","POLG","PRKRA","PRRT2","REEP1","REEP6","RNF216","RRAGD","SCARB2","SELENBP1","SEMA3A","SERPINA1","SLC4A4","SMN1","SMN2","SNTA1","SOHLH1","SPTLC1","STAT1","TLR7","TLR8","TOR1AIP1","TPP1","TTN","TWNK","UNC13D","WNT4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INTERMEDIATE_YOUNG_ADULT_ONSET":{"collection":"C5:HPO","systematicName":"M46265","pmid":"","exactSource":"HP:0025709","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025709","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTERMEDIATE_YOUNG_ADULT_ONSET","geneSymbols":["ATP6AP2","ATP7B","C14orf39","CACNB4","CHRNA1","ENG","FIG4","GATA2","GRN","JAK2","KCNJ11","RNASEH1","SLC12A5","SLC22A12","SOST","SYNJ1","TP53","YARS1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LATE_YOUNG_ADULT_ONSET":{"collection":"C5:HPO","systematicName":"M46266","pmid":"","exactSource":"HP:0025710","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025710","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LATE_YOUNG_ADULT_ONSET","geneSymbols":["ANXA11","ATP7B","ATXN3","CACNB4","CAV3","CFH","CHCHD10","CHRNA2","CLCN2","CSF1R","CYP27A1","DNM1L","EPCAM","GDAP2","GFAP","H6PD","HSPB1","KCNA5","KCNJ11","LBR","MAPT","MFSD8","MME","MYH7","NAGA","POLG","POLG2","PRNP","PRPH2","PSEN1","PSEN2","PTEN","RAX2","SAMD9L","SCN3B","SLC22A12","SYNJ1","TMEM126B","VAPB","VCP","XRCC1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CEREBRAL_INFARCT":{"collection":"C5:HPO","systematicName":"M47239","pmid":"","exactSource":"HP:0025722","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025722","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CEREBRAL_INFARCT","geneSymbols":["ACTA2","ACVRL1","ADA2","BRCC3","COL4A1","COLGALT1","ELN","ENG","FBN1","FOXE3","GNB2","GUCY1A1","HEY2","HTRA1","JAK2","LOX","MAT2A","MFAP5","MYH11","MYLK","NAGA","NOTCH3","NPPA","PIK3C2A","POLG","PRKG1","SCN5A","SLC2A10","SMAD2","SMAD3","SMAD4","SMARCAL1","SON","TGFB2","TGFB3","TGFBR1","TGFBR2","THSD4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_FETAL_SKIN_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M45470","pmid":"","exactSource":"HP:0025723","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0025723","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FETAL_SKIN_MORPHOLOGY","geneSymbols":["ADA","CHD7","DCLRE1C","GBA1","HLCS","IL2RG","IL7R","LIG4","MRPS22","RAG1","RAG2","RMRP","SLC27A4","TGM1","TWIST2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LAGOPHTHALMOS":{"collection":"C5:HPO","systematicName":"M43470","pmid":"","exactSource":"HP:0030001","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030001","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LAGOPHTHALMOS","geneSymbols":["CDH1","CTNND1","ECEL1","HNRNPK","HOXB1","LMNA","MYMK","NGLY1","POLR3A","PRR12","RIPK4","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_EMG_POSITIVE_SHARP_WAVES":{"collection":"C5:HPO","systematicName":"M46267","pmid":"","exactSource":"HP:0030007","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030007","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EMG_POSITIVE_SHARP_WAVES","geneSymbols":["ANXA11","DNM2","GNE","MTMR14","NR4A2","OPTN","SETX","SGCG","TFG"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYDROMETROCOLPOS":{"collection":"C5:HPO","systematicName":"M47240","pmid":"","exactSource":"HP:0030010","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030010","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYDROMETROCOLPOS","geneSymbols":["BBS12","DYNC2LI1","GLI3","MKKS","WT1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_FEMALE_REPRODUCTIVE_SYSTEM_PHYSIOLOGY":{"collection":"C5:HPO","systematicName":"M38305","pmid":"","exactSource":"HP:0030012","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030012","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FEMALE_REPRODUCTIVE_SYSTEM_PHYSIOLOGY","geneSymbols":["AARS2","ABCD1","AGGF1","AGK","AGPAT2","AIP","AIRE","AKT1","AKT2","ALMS1","ANAPC1","ANAPC7","ANOS1","ANTXR1","AR","ARMC5","ATM","ATP7B","ATRX","AXL","B4GALNT1","BAP1","BBS9","BCOR","BLM","BLOC1S3","BLOC1S5","BMP15","BMP2","BMP4","BMP6","BMPR1B","BNC1","BPTF","BRAF","BRD4","BSCL2","BTG4","C14orf39","CASP10","CAV1","CAVIN1","CCDC141","CCN2","CCR6","CDH23","CDKN1A","CDKN1B","CDKN1C","CDKN2B","CDKN2C","CDON","CEP164","CEP290","CHD7","CHP1","CIDEC","CISD2","CLEC7A","CLPP","COL25A1","COQ2","CPE","CTDP1","CYB5A","CYP11B1","CYP17A1","CYP19A1","DCAF17","DCC","DHH","DHX37","DIAPH1","DIAPH2","DMRT3","DNAJC6","DNM1L","DTNBP1","DUSP6","EIF2B1","EIF2B2","EIF2B3","EIF2B4","ERAL1","ERCC4","ERCC6","ERCC8","ESR1","ESR2","F10","F11","F13A1","F13B","F2","F5","F7","F8","FANCM","FAS","FASLG","FEZF1","FGA","FGB","FGF17","FGF8","FGFR1","FGFR3","FGG","FIGLA","FIP1L1","FLI1","FLRT3","FMR1","FOS","FOXA2","FOXL2","FSHB","FSHR","FZD2","GALK1","GALT","GATA3","GATA4","GDF9","GGPS1","GHR","GLI2","GNAS","GNRH1","GNRHR","GP1BA","GP1BB","GP6","GP9","GPR101","GPR161","H6PD","HAMP","HARS2","HDAC8","HERC2","HESX1","HFE","HFM1","HJV","HLA-B","HLA-DRB1","HMGA2","HPS4","HPS5","HS6ST1","HSD17B4","HSF2BP","HTRA2","IGF2","IKZF1","IL17F","IL17RA","IL17RC","IL17RD","INVS","IQCB1","IRF2BP2","IRF5","ITGA2B","ITGA8","ITGB3","KISS1","KISS1R","KPNA7","LARS2","LEP","LEPR","LHB","LHX4","LIG4","LIPE","LMAN1","LMNA","LRRK2","MAGEL2","MAP3K1","MCFD2","MCM3AP","MCM8","MCM9","MEN1","MKRN3","MOS","MRPS22","MSH4","MSH5","MSTO1","MYH9","NABP1","NBEAL2","NBN","NDN","NDNF","NF2","NHLH2","NIN","NIPBL","NOBOX","NPAP1","NPHP1","NPHP3","NPHP4","NPM1","NR0B1","NR3C1","NR5A1","NSMF","NUMA1","NUP107","OCA2","OTX2","PAPSS2","PARK7","PCSK1","PDE4D","PDGFB","PEX1","PEX10","PEX6","PHKA2","PHKB","PHKG2","PIK3CA","PINK1","PLAG1","PLAU","PLIN1","PML","PMM2","PODXL","POF1B","POLG","POLG2","POLR3H","POR","POU1F1","PPARG","PRKACG","PRKAR1A","PRKCD","PRKN","PRLR","PROK2","PROKR2","PROP1","PRORP","PSMB8","PSMC3IP","PSMD12","PTPN11","PWAR1","PWRN1","RAD21","RARA","RASGRP1","RASGRP2","RCBTB1","RIN2","RNF216","ROBO1","RTN2","SDCCAG8","SEMA3A","SEMA3E","SERPINE1","SETD2","SIM1","SLC25A13","SLC29A3","SLC37A4","SLFN14","SMARCB1","SMARCE1","SMC1A","SMC3","SMCHD1","SMO","SNCA","SNORD115-1","SNORD116-1","SNRPN","SOHLH1","SOST","SOX10","SOX3","SOX9","SPIDR","SPRY4","SRA1","SRY","STAG3","STAT3","STAT5B","STUB1","SUFU","SYCE1","SYNJ1","TAC3","TACR3","TBL1X","TBL1XR1","TERT","TFR2","THOC6","TKT","TP53","TP63","TPR","TRAF3IP1","TRAF3IP2","TRAF7","TRIP13","TRMT10A","TTI2","TWNK","UBAP1","UCHL1","USP48","USP8","VAMP7","VPS13C","VWF","WAS","WDR11","WDR19","WIPF1","WNT4","WNT7A","WRN","WT1","WWOX","XRCC2","YARS1","ZBTB16","ZFHX4","ZFPM2","ZMPSTE24","ZSWIM7"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FEMALE_SEXUAL_DYSFUNCTION":{"collection":"C5:HPO","systematicName":"M38306","pmid":"","exactSource":"HP:0030014","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030014","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FEMALE_SEXUAL_DYSFUNCTION","geneSymbols":["ABCD1","AIP","ANOS1","CAV1","CCDC141","CCN2","CCR6","CDH23","CHD7","CLEC7A","COQ2","DCC","DNAJC6","DUSP6","FEZF1","FGF17","FGF8","FGFR1","FLRT3","FSHB","FZD2","GNRH1","GNRHR","HESX1","HLA-B","HLA-DRB1","HS6ST1","HTRA2","IKZF1","IL17F","IL17RA","IL17RC","IL17RD","IRF5","KISS1","KISS1R","LRRK2","MEN1","NDNF","NHLH2","NSMF","PARK7","PINK1","PODXL","PRKN","PROK2","PROKR2","RTN2","SEMA3A","SNCA","SOX10","SPRY4","SYNJ1","TAC3","TACR3","TRAF3IP2","UBAP1","UCHL1","VPS13C","WDR11"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DYSPAREUNIA":{"collection":"C5:HPO","systematicName":"M38307","pmid":"","exactSource":"HP:0030016","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030016","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DYSPAREUNIA","geneSymbols":["AIP","ANOS1","CAV1","CCDC141","CCN2","CCR6","CDH23","CHD7","CLEC7A","DCC","DUSP6","FEZF1","FGF17","FGF8","FGFR1","FLRT3","FZD2","HESX1","HLA-B","HLA-DRB1","HS6ST1","IKZF1","IL17F","IL17RA","IL17RC","IL17RD","IRF5","MEN1","NDNF","PROK2","PROKR2","SEMA3A","SOX10","SPRY4","TACR3","TRAF3IP2","WDR11"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BIFID_URETER":{"collection":"C5:HPO","systematicName":"M46268","pmid":"","exactSource":"HP:0030037","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030037","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BIFID_URETER","geneSymbols":["COL18A1","FIBP","PAK2","PBX1","PORCN"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ENCHONDROMA":{"collection":"C5:HPO","systematicName":"M38308","pmid":"","exactSource":"HP:0030038","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030038","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ENCHONDROMA","geneSymbols":["ACP5","ADAR","COL2A1","IDH1","IDH2","IFIH1","LSM11","MAD1L1","PDE11A","POLR1B","POLR1C","POLR1D","PRKAR1A","PTH1R","PTPN11","RNASEH2A","RNASEH2B","RNASEH2C","RNU7-1","SAMHD1","TCOF1","TREX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HIP_SUBLUXATION":{"collection":"C5:HPO","systematicName":"M38309","pmid":"","exactSource":"HP:0030043","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030043","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HIP_SUBLUXATION","geneSymbols":["AFF4","B3GALT6","BICRA","DDR2","DHCR7","EIF2AK3","EIF4A3","FAT4","GET4","GNB2","GNPTAB","IFIH1","KIF22","LMNB2","NEPRO","NFIX","OSTM1","PLOD1","SLC35A2","THOC2","TONSL","TRAPPC12","ZNF407"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FLEXION_CONTRACTURE_OF_DIGIT":{"collection":"C5:HPO","systematicName":"M38310","pmid":"","exactSource":"HP:0030044","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030044","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FLEXION_CONTRACTURE_OF_DIGIT","geneSymbols":["ABL1","ACTG2","ADAMTS3","ADAMTSL2","ADAT3","ALG12","ALG8","ALX1","ALX3","AMER1","ANTXR2","APC2","ARID1B","ARPC4","ARX","ASXL1","ASXL3","ATAD1","ATP6V1A","ATP6V1E1","ATPAF2","B9D2","BCOR","BCR","BGN","BHLHA9","BLTP1","BRPF1","CACNA1C","CANT1","CAPN3","CASZ1","CCBE1","CCDC22","CCDC32","CCN6","CDC42","CDC45","CDC6","CDH3","CDK13","CDT1","CHD7","CHN1","CHRNG","CHST3","CLCF1","CNTN1","COG1","COG5","COL11A1","COL11A2","COL12A1","COL1A1","COL3A1","COL6A1","COL6A2","COL6A3","CRKL","CRLF1","CSGALNACT1","CTDP1","CUL4B","DCHS1","DHODH","DLK1","DLL3","DOK7","DPAGT1","DPH1","DPH2","DPM1","DSE","DSP","DUSP6","DVL1","DVL3","DYM","ECEL1","EED","EFNB1","EIF5A","EMG1","EPB41L1","ERCC1","ERCC2","ERCC5","ERCC6","ERLIN2","EXOSC5","EZH2","FAT4","FBN1","FBN2","FBXO28","FERMT1","FGD1","FGF17","FGF8","FGFR1","FGFR2","FGFR3","FHL1","FIBP","FKTN","FLNA","FLVCR1","FZD2","GABRD","GDF5","GJA1","GJA5","GJA8","GLDN","GLI3","GLUL","GMNN","GNPTAB","GNRH1","GNRHR","GON7","GORAB","GPC3","GPC4","GPKOW","H1-4","H4C9","HES7","HINT1","HOXD13","HS6ST1","HSPG2","HUWE1","IDS","IDUA","IGHMBP2","IKBKG","IL6ST","IPO8","ITCH","JUP","KAT6B","KCNAB2","KCNK9","KDM5B","KDM5C","KIF15","KIF21A","KISS1","KISS1R","KLHL7","KRT1","KRT16","KRT9","L1CAM","LAGE3","LAMB3","LBR","LFNG","LGI4","LIFR","LMBR1","LMBRD2","LMNA","LUZP1","MAF","MAFB","MAGEL2","MAP3K7","MAPK1","MBTPS2","MED12","MED13L","MED25","MEG3","MEGF10","MEGF8","MESP2","MET","MKS1","MMP2","MMP23B","MORC2","MSL3","MUSK","MYBPC1","MYH3","MYL11","MYO9A","MYOD1","NAA10","NALCN","NEDD4L","NEK9","NHLH2","NKAP","NLRP3","NOD2","NOG","NSD1","NSMF","NT5C2","NUP107","NUP133","NUP188","NUP88","NXN","OCRL","ORC1","ORC4","ORC6","OSGEP","PAX3","PDPN","PERP","PEX1","PEX2","PEX5","PEX6","PHF6","PHGDH","PIEZO2","PIGL","PIGN","PLOD3","POLR3A","POLR3GL","POR","PORCN","PPP2R5D","PQBP1","PRDM16","PRDM5","PRG4","PRKCZ","PROK2","PROKR2","PSMB8","RAB23","RAB3GAP1","RAPSN","RERE","RIC1","RIPPLY2","ROR2","RPL10","RTL1","RTTN","SALL4","SATB2","SCARF2","SCN4A","SETBP1","SETD2","SH3PXD2B","SHH","SKI","SLC18A3","SLC26A2","SLC29A3","SLC35A2","SLC35A3","SLC39A13","SMAD3","SMAD4","SMARCAD1","SMC1A","SMG9","SMOC1","SMS","SNX14","SPART","SPEN","SPRY4","STAC3","SUZ12","TAC3","TACR3","TBC1D2B","TBR1","TBX15","TBX2","TBX3","TCTN3","TDO2","TGDS","TGFB3","TGFBR1","TGFBR2","THOC6","TLK2","TMEM70","TNNC2","TNNI2","TNNT3","TOR1A","TOR1AIP1","TP53RK","TP63","TPM2","TPRKB","TRPS1","TRPV4","TUBA1A","TUBB3","TWIST2","UBE4B","UPF3B","WDR11","WDR4","WDR73","WIPI2","WNT5A","XYLT1","YRDC","ZC4H2","ZDHHC9","ZEB2","ZMPSTE24","ZNF407","ZNF469"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_LATERAL_VENTRICLE_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M38311","pmid":"","exactSource":"HP:0030047","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030047","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LATERAL_VENTRICLE_MORPHOLOGY","geneSymbols":["AARS2","ACP5","ADNP","AHI1","ALDH6A1","ALG13","ALG2","ANKRD11","ARSI","ASXL3","ATP6AP2","BICD2","CCDC174","CLCN3","CLTC","COASY","COG1","COG5","COX7B","CREBBP","CSPP1","CUX1","D2HGDH","DCX","DHCR7","DHX37","DNM1","DOCK6","DTYMK","EIF2B5","EML1","EP300","ERMARD","EZH2","FANCI","FBXW11","FRA10AC1","GAN","GCDH","GFM2","GLUL","GRIN1","GRN","HCCS","HNRNPH1","HS6ST2","KAT6B","KCNJ6","KCTD1","KDM1A","KDM6A","KIAA0586","KIAA0753","KIDINS220","KIF26A","KLHL15","KMT2D","LARGE1","LIPT2","LONP1","MAPKAPK5","MED25","MEF2C","MPDZ","MTHFS","NADK2","NCAPG2","NDE1","NDUFB11","NEK1","NFIX","NRCAM","ODC1","PDHA1","PEX10","PEX2","PGAP3","PIGA","PIGG","PLXNA1","PPP1R12A","PPP2R5D","PSAT1","PTPN23","PUS3","RAB3GAP1","RAC1","RNU4ATAC","RNU7-1","SATB1","SEC31A","SLC35A2","SMG9","SNRPN","SON","SPG11","SPRED2","STAG2","TAF8","TAOK1","TMEM147","TNFRSF11A","TTC26","TTC5","TUBA8","TUBB2B","TUBB3","TYROBP","USP18","VPS13A","VPS51","VRK1","WARS2","YIPF5","YY1","ZEB2","ZIC1","ZIC2","ZNF148","ZNF462"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_COLPOCEPHALY":{"collection":"C5:HPO","systematicName":"M38312","pmid":"","exactSource":"HP:0030048","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030048","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_COLPOCEPHALY","geneSymbols":["ANKRD11","ARSI","COX7B","CSPP1","DHCR7","DHX37","DNM1","ERMARD","FANCI","FRA10AC1","HCCS","HNRNPH1","KAT6B","KDM1A","KIAA0586","KIF26A","MPDZ","NADK2","NCAPG2","NDE1","NDUFB11","NRCAM","PEX10","PEX2","PLXNA1","PPP1R12A","RNU4ATAC","SEC31A","STAG2","TUBA8","ZNF148","ZNF462"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_TIP_TOE_GAIT":{"collection":"C5:HPO","systematicName":"M38313","pmid":"","exactSource":"HP:0030051","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030051","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TIP_TOE_GAIT","geneSymbols":["AASS","ADSS1","AGRN","AIFM1","ALDH18A1","ALS2","AP5Z1","ARSA","ATL1","B4GALNT1","BAG3","BICD2","CAPN3","CHAT","COASY","COL12A1","COL13A1","CRPPA","CYP2U1","DDHD2","DEAF1","DMD","DYNC1H1","DYSF","EMD","ERLIN1","FBN1","FHL1","FKRP","FKTN","FUS","GFM2","GJB1","GNB2","GNPTAB","H4C5","HADHA","HADHB","HARS1","INPP5K","KCNA1","KIDINS220","KIF1C","KMT2B","KY","LMNA","LMX1B","LRSAM1","MORC2","MT-TE","MYH7","MYO9A","MYPN","PANK2","PEX16","PI4KA","PNPLA8","POMT1","PSAP","REEP2","SBF2","SGCA","SGCG","SIGMAR1","SLC18A3","SLC25A1","SLC39A14","SLC5A7","SMG8","SNAP25","SPG11","SPTBN1","SPTLC1","SYNE1","SYNE2","SYT2","TLK2","TMEM43","TNNT1","TPM2","TPM3","VAMP1","VCP","YY1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INGUINAL_FRECKLING":{"collection":"C5:HPO","systematicName":"M43472","pmid":"","exactSource":"HP:0030052","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030052","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INGUINAL_FRECKLING","geneSymbols":["KRT5","NF1","POFUT1","POGLUT1","PSENEN","SPRED1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_STIFF_SKIN":{"collection":"C5:HPO","systematicName":"M38314","pmid":"","exactSource":"HP:0030053","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030053","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_STIFF_SKIN","geneSymbols":["ADA2","FBN1","LMNA","PSMB8","SLC29A3","SMAD4","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_UNCOMBABLE_HAIR":{"collection":"C5:HPO","systematicName":"M38315","pmid":"","exactSource":"HP:0030056","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030056","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UNCOMBABLE_HAIR","geneSymbols":["HRURF","PADI3","SKIC2","SKIC3","TCHH","TGM3","TP63"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_AUTOIMMUNE_ANTIBODY_POSITIVITY":{"collection":"C5:HPO","systematicName":"M38316","pmid":"","exactSource":"HP:0030057","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030057","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AUTOIMMUNE_ANTIBODY_POSITIVITY","geneSymbols":["ABCC8","ACP5","ADA","ADA2","AGRN","ALG14","ANKRD55","APPL1","ARPC1B","BACH2","BANK1","BLK","C1QB","C1QC","C4A","C4B","CALR","CARD10","CASP10","CCN6","CD244","CD247","CEL","CHAT","CHRNA1","CHRNB1","CHRND","CHRNE","CIITA","CLPB","COL13A1","COL4A5","COL4A6","COLQ","COPA","CR2","CRYAB","CSF2RA","CSF2RB","CTLA4","CTNNB1","CYBC1","DEF6","DNAJC3","DNASE1","DNASE1L3","DOK7","DUT","EIF2AK4","ELANE","ETS1","FADD","FAS","FASLG","FCGR2A","FCGR2B","FCGR3B","FOXP3","GCK","GFI1","GLIS3","GNAS","GRIN2A","HLA-B","HLA-DRB1","HNF1A","HNF4A","HYMAI","IFNG","IFNGR1","IGHG1","IL10","IL12A","IL12RB1","IL2RA","IL2RB","INS","IRAK1","IRF5","ITCH","ITGAM","JAK2","JAZF1","KCNJ11","KIAA0319L","KLF11","LACC1","LBR","MECP2","MMEL1","MMP2","MPL","MS4A1","MYO9A","NARS2","NEUROD1","NFKB2","NFKBIL1","NLRP1","PAX4","PDCD1","PDX1","PGM3","PLAGL1","PLCG2","PLEC","POMP","POU2AF1","PREPL","PRF1","PRKCD","PTPN2","PTPN22","PXK","RAPSN","RASGRP1","RHAG","RHCE","RHD","RIPK1","SAT1","SBDS","SCN4A","SLC18A3","SLC22A4","SLC25A1","SLC5A7","SLC7A7","SNAP25","SOCS1","SPIB","SPP1","SRP19","SRP54","STAT1","STAT3","STAT4","STING1","STX16","SYT2","TCIRG1","TERC","TERT","TET2","THRB","TLR7","TLR8","TNFAIP3","TNFSF15","TNFSF4","TNIP1","TNPO3","TOM1","TREX1","TRHR","TRMT10A","TSHB","TSHR","UBA1","UBE2L3","VAMP1","ZFP57"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PRIMITIVE_NEUROECTODERMAL_TUMOR":{"collection":"C5:HPO","systematicName":"M38317","pmid":"","exactSource":"HP:0030065","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030065","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PRIMITIVE_NEUROECTODERMAL_TUMOR","geneSymbols":["APC2","ASCL1","BDNF","BMPR1A","BRAF","BRD4","CASZ1","CDKN2A","CHEK2","DICER1","EDN3","EPCAM","FAN1","FLI1","GABRD","GDNF","GPC3","GPC4","HSPG2","KCNAB2","KEAP1","KIF1B","KRAS","LBX1","LUZP1","MAPRE2","MDM2","MLH1","MLH3","MMP23B","MSH2","MSH6","MYO1H","NF1","NSD1","NUTM1","PALB2","PDPN","PHOX2B","PIK3CA","PMS1","PMS2","PRDM16","PRKCZ","PTPN11","RAF1","RERE","RET","RPS20","RUNX1","SDHB","SEMA4A","SETD2","SKI","SPEN","TGFBR2","TP53","TUBB","UBE4B","YY1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CENTRAL_PRIMITIVE_NEUROECTODERMAL_TUMOR":{"collection":"C5:HPO","systematicName":"M41496","pmid":"","exactSource":"HP:0030070","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030070","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CENTRAL_PRIMITIVE_NEUROECTODERMAL_TUMOR","geneSymbols":["CDKN2A","CHEK2","DICER1","KEAP1","MDM2","TP53"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BURKITT_LYMPHOMA":{"collection":"C5:HPO","systematicName":"M38318","pmid":"","exactSource":"HP:0030080","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030080","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BURKITT_LYMPHOMA","geneSymbols":["CASP10","FAS","FASLG","MYC","NFATC2","PRKCD","RASGRP1","RHOH","SH2D1A","XIAP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_DRINKING_BEHAVIOR":{"collection":"C5:HPO","systematicName":"M38319","pmid":"","exactSource":"HP:0030082","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030082","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_DRINKING_BEHAVIOR","geneSymbols":["AQP2","ARNT2","AVP","AVPR2","BBS9","BSND","CACNA1D","CASR","CDC73","CISD2","CLCNKB","CLDN10","CLDN16","CTNS","CYP11B1","CYP11B2","DCDC2","DZIP1L","FGFR1","HESX1","HNF1A","HNF1B","HPSE2","HSD11B2","IL6","INSR","IRF4","ITPR3","KCNJ1","KCNJ10","KCNJ5","KL","LRIG2","LZTFL1","NKX2-1","NLRP3","NPHP1","NPHP3","NPHP4","OTX2","PKHD1","PROKR2","PTPN22","SLC12A3","SLC41A1","SLC5A2","SOX2","SOX3","TMEM67","TRANK1","WFS1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CLINODACTYLY":{"collection":"C5:HPO","systematicName":"M38320","pmid":"","exactSource":"HP:0030084","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030084","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CLINODACTYLY","geneSymbols":["ABCC8","ABL1","ACVR1","ADNP","AFF2","AGO2","AKT1","ALDH1A2","ALG12","ALG3","ALX1","ALX3","AMER1","AMMECR1","ANKRD11","AP1G1","ARID1A","ARID1B","ARID2","ATG7","ATP2B1","ATP6V1B2","ATR","ATRIP","ATRX","AUTS2","B3GLCT","BAZ1B","BBS7","BCL7B","BCOR","BCR","BHLHA9","BLM","BLTP1","BMP2","BMP4","BMPR1B","BPTF","BRAF","BRAT1","BRCA1","BRCA2","BRD4","BRF1","BRIP1","BUB1","BUB1B","BUB3","BUD23","CACNA1G","CAMSAP1","CANT1","CASZ1","CBL","CCDC22","CCDC32","CCDC47","CCDC8","CCNK","CCNQ","CD96","CDC42","CDC45","CDC6","CDH1","CDH11","CDK10","CDK13","CDKN1C","CDT1","CENPE","CENPJ","CEP152","CEP55","CEP57","CHD7","CHRNA7","CHSY1","CITED2","CKAP2L","CLCF1","CLCN3","CLIP2","CNOT2","CNOT3","COG5","COG8","COL11A1","COL27A1","COL2A1","COLEC10","CPLANE1","CREBBP","CRKL","CSGALNACT1","CSNK2A1","CTCF","CUL4B","CUL7","DACT1","DCHS1","DDX11","DDX3X","DEAF1","DHPS","DLEC1","DLK1","DLX3","DLX5","DNA2","DNAJC30","DONSON","DPAGT1","DPF2","DSP","DVL1","DVL3","DYM","EFNB1","EIF4A3","EIF4H","ELN","EMG1","EP300","EPB41L1","ERCC4","ERMARD","ESCO2","EVC","EVC2","EXOSC5","EXT2","EZH2","FAM149B1","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FAT4","FBXO11","FGD1","FGF10","FGF16","FGFR1","FGFR2","FGFR3","FIG4","FKBP6","FLI1","FLII","FLNA","FLNB","FLT4","FN1","FOXP1","FOXP2","FRA10AC1","FZD2","G6PC3","GABRD","GATA1","GATA4","GATA5","GATA6","GDF1","GDF5","GJA1","GJA5","GJA8","GMNN","GNB2","GPC3","GPC4","GRB10","GTF2I","GTF2IRD1","GTF2IRD2","H19","H3-3B","H4C3","HDAC4","HDAC8","HEATR3","HEPHL1","HERC2","HIC1","HMGA2","HNRNPH1","HNRNPK","HNRNPR","HOXA11","HOXA13","HOXD13","HSPG2","HUWE1","IFT122","IFT140","IFT43","IFT52","IGF1","IGF1R","IGF2","IHH","IL11RA","INPP5E","INTU","IQSEC2","IRX5","ITCH","JAG1","JUP","KAT6B","KAT8","KCNAB2","KCNJ11","KCNJ2","KCNJ5","KCNK4","KCNN3","KCTD1","KDM1A","KDM4B","KDM5C","KDM6B","KDR","KIAA0753","KIF15","KIF7","KIFBP","KLF13","KMT2A","KMT2B","KMT2D","KNSTRN","KPTN","KRAS","L1CAM","LEMD3","LIG4","LIMK1","LMNA","LMNB2","LMX1B","LTBP1","LUZP1","LZTR1","MACROH2A1","MAD2L2","MAF","MAGEL2","MAN1B1","MAP1B","MAP2K1","MAP3K7","MAPK1","MAPK8IP3","MAPRE2","MASP1","MBD5","MCTP2","MECOM","MECP2","MED12","MED13L","MED25","MEF2C","MEG3","MEGF8","METTL27","MIA3","MID2","MITF","MKRN3","MKS1","MLXIPL","MMP23B","MRAS","MTRR","MYCN","MYL11","MYOD1","NAA10","NAA20","NARS1","NARS2","NCAPG2","NCF1","NEDD4L","NEK1","NEXMIF","NFIX","NIN","NIPBL","NKX2-5","NKX2-6","NOG","NONO","NPAP1","NPR2","NPR3","NRAS","NSD2","NSMF","NSUN2","NUP107","NUP188","NUP37","NUP85","NXN","OBSL1","ODC1","OFD1","OGT","ORC1","ORC4","ORC6","PACS1","PACS2","PAFAH1B1","PAH","PAICS","PALB2","PAX1","PAX3","PCDHGC4","PCGF2","PCNT","PDE6D","PDPN","PGAP2","PGAP3","PHF21A","PHGDH","PHIP","PIEZO2","PIGH","PIGL","PIGN","PIGO","PIGS","PIGV","PIGW","PIGY","PIK3C2A","PIK3CD","PIK3R1","PITX1","PKDCC","PLAG1","PLK4","PLXND1","PNPLA6","POC1A","POLA1","POLE","POLR3A","POMP","POR","PPP1R15B","PPP2R1A","PQBP1","PRDM16","PRKACB","PRKCZ","PRR12","PTEN","PTH1R","PTPN11","PUF60","PUM1","PWAR1","PWRN1","QRICH1","RAB11B","RAB18","RAB23","RAB3GAP2","RAC3","RAD21","RAD51","RAD51C","RAF1","RAI1","RALA","RASA2","RB1","RBBP8","RBM10","RBM8A","RERE","REV3L","RFC2","RFWD3","RFX7","RHOA","RIT1","RNF216","RNF6","RNU4ATAC","ROR2","RPL10","RRAS","RRAS2","RSPRY1","RTL1","RUNX2","SALL1","SATB2","SEMA3E","SF3B4","SH3PXD2B","SHANK3","SHOX","SIAH1","SIK3","SIN3A","SIN3B","SKI","SLC29A3","SLC2A10","SLC35A1","SLC9A7","SLX4","SMAD4","SMARCA2","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SMC1A","SMC3","SMC5","SMOC1","SNORD115-1","SNORD116-1","SNRPB","SNRPN","SNX14","SOS1","SOS2","SOX11","SOX4","SOX5","SOX6","SPART","SPECC1L","SPEN","SPOP","SPRED1","SPRED2","SPRTN","SRCAP","SSR4","STAG1","STAG2","STAMBP","STX1A","SUZ12","TASP1","TBC1D24","TBCK","TBL2","TBX1","TBX15","TBX4","TBX5","TCF20","TCF4","TCTN3","TELO2","TFAP2A","TFAP2B","TGDS","TGFBR2","TMEM147","TMEM216","TMEM270","TNNT3","TOPORS","TP63","TPR","TRAF7","TRAIP","TRAPPC9","TRIO","TRIP12","TRIP13","TRMT10A","TRPM3","TRPS1","TRPV4","TRRAP","TWIST1","TWIST2","UBA2","UBE2T","UBE3A","UBE3B","UBE4B","UBR1","USP7","VPS13B","VPS37D","WDR11","WDR19","WDR35","WDR4","WIPI2","WNT5A","WNT7A","WWOX","XRCC2","XRCC4","XYLT1","YWHAE","YY1AP1","ZC4H2","ZFPM2","ZMYM2","ZNF292","ZNF462","ZNF668"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CIRCULATING_TESTOSTERONE_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M46270","pmid":"","exactSource":"HP:0030087","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030087","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_TESTOSTERONE_CONCENTRATION","geneSymbols":["AKT1","ANOS1","AR","B4GALNT1","BAP1","BMP6","CEP112","CHD7","CPE","CYB5A","CYP11B1","CYP17A1","DCAF17","DHH","DHX37","DMRT3","DMXL2","DUSP6","ESR1","FANCM","FEZF1","FGD1","FGF17","FGF8","FGFR1","FKBP6","FSHB","FSHR","GATA4","GCNA","GNAS","GNRH1","GNRHR","HFE","HS6ST1","HSD3B2","INSR","KISS1","KISS1R","LEP","LEPR","LGR4","LHB","MAP3K1","MSH4","NDNF","NF2","NHLH2","NR0B1","NR2F2","NR3C1","NR5A1","NSMF","PDGFB","PIK3CA","POLA1","POLR3A","PRKAR1A","PROK2","PROKR2","RBM28","SEMA3A","SLC39A4","SMARCB1","SMARCE1","SMO","SOX9","SPRY4","SRY","SUFU","SYCE1","TAC3","TACR3","TAF4B","TERT","TRAF7","VAMP7","WDR11","WNT4","WT1","WWOX","ZFPM2","ZMYND15"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INCREASED_SERUM_TESTOSTERONE_LEVEL":{"collection":"C5:HPO","systematicName":"M38321","pmid":"","exactSource":"HP:0030088","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030088","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_SERUM_TESTOSTERONE_LEVEL","geneSymbols":["AR","CYP11B1","FSHR","GNAS","HSD3B2","INSR","NR2F2","NR3C1","POLR3A","PRKAR1A","WNT4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_MUSCLE_FIBER_PROTEIN_EXPRESSION":{"collection":"C5:HPO","systematicName":"M38322","pmid":"","exactSource":"HP:0030089","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030089","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MUSCLE_FIBER_PROTEIN_EXPRESSION","geneSymbols":["CAV3","COL12A1","COL6A1","COL6A2","COL6A3","CRPPA","CRYAB","DAG1","DMD","DYSF","EMD","FHL1","FKRP","FKTN","GFER","GMPPB","GOSR2","LAMA2","LARGE1","LMNA","MYH7","MYOT","POMGNT1","POMK","POMT1","POMT2","SELENON","SYNE1","SYNE2","TMEM43","TTN"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_MUSCLE_FIBER_MEROSIN_EXPRESSION":{"collection":"C5:HPO","systematicName":"M47241","pmid":"","exactSource":"HP:0030090","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030090","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MUSCLE_FIBER_MEROSIN_EXPRESSION","geneSymbols":["FKRP","LAMA2","MYH7","SELENON","TTN"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_MUSCLE_FIBER_ALPHA_DYSTROGLYCAN":{"collection":"C5:HPO","systematicName":"M38323","pmid":"","exactSource":"HP:0030112","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030112","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MUSCLE_FIBER_ALPHA_DYSTROGLYCAN","geneSymbols":["CRPPA","DAG1","FKRP","FKTN","GMPPB","GOSR2","LARGE1","POMGNT1","POMK","POMT1","POMT2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_ENDOMETRIUM_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M38324","pmid":"","exactSource":"HP:0030126","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030126","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ENDOMETRIUM_MORPHOLOGY","geneSymbols":["AKT1","BMPR1A","CDH1","EPCAM","GREM1","KLLN","MLH1","MLH3","MSH2","MSH3","MSH6","NTHL1","PIK3CA","PMS2","POLD1","POLE","PTEN","SDHB","SDHC","SDHD","SEC23B","SLC6A17","THOC6","USF3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PROLONGED_BLEEDING_FOLLOWING_CIRCUMCISION":{"collection":"C5:HPO","systematicName":"M38325","pmid":"","exactSource":"HP:0030137","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030137","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROLONGED_BLEEDING_FOLLOWING_CIRCUMCISION","geneSymbols":["F13A1","F13B","F2","F5","F8","FGA","FGB","FGG","ITGA2B","ITGB3","LMAN1","MCFD2","RBM8A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ORAL_CAVITY_BLEEDING":{"collection":"C5:HPO","systematicName":"M38326","pmid":"","exactSource":"HP:0030140","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030140","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ORAL_CAVITY_BLEEDING","geneSymbols":["BCOR","F10","F13A1","F13B","F2","F5","F8","FIP1L1","IRF2BP2","KIF23","NABP1","NPM1","NUMA1","PML","PRKAR1A","RACGAP1","RARA","STAT3","STAT5B","TBL1XR1","ZBTB16"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_BOWEL_SOUNDS":{"collection":"C5:HPO","systematicName":"M38327","pmid":"","exactSource":"HP:0030142","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030142","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BOWEL_SOUNDS","geneSymbols":["ATRX","CAV1","CCN2","CCR6","DAXX","HLA-DRB1","IRF5","POLG","SDHD","SLC5A1","TYMP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_LIVER_PARENCHYMA_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M38328","pmid":"","exactSource":"HP:0030146","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030146","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LIVER_PARENCHYMA_MORPHOLOGY","geneSymbols":["BMPER","BTNL2","FOCAD","HLA-DRB1","JAK1","NPHP3","PMM2","PTRH2","SLC25A13","VPS33B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_TRUNCAL_TITUBATION":{"collection":"C5:HPO","systematicName":"M41497","pmid":"","exactSource":"HP:0030147","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030147","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TRUNCAL_TITUBATION","geneSymbols":["ACBD5","BRAT1","FLVCR1","HYCC1","ITPR1","SLC19A3","THG1L","TPP1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CARDIOGENIC_SHOCK":{"collection":"C5:HPO","systematicName":"M45471","pmid":"","exactSource":"HP:0030149","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030149","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CARDIOGENIC_SHOCK","geneSymbols":["ABCC6","ATRX","DAXX","LMOD2","MYL2","NAA10","RPL3L","SDHA"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CHOLANGITIS":{"collection":"C5:HPO","systematicName":"M38329","pmid":"","exactSource":"HP:0030151","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030151","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHOLANGITIS","geneSymbols":["ABCB4","ABCD1","BCAP31","BCS1L","CD40LG","CIITA","CLDN1","DCDC2","DZIP1L","IFT140","IGHG2","IGKC","IL21R","IL36RN","ITCH","KIF12","MED12","PKHD1","REL","RFX5","RFXANK","RFXAP","WDR35"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CHOLANGIOCARCINOMA":{"collection":"C5:HPO","systematicName":"M41498","pmid":"","exactSource":"HP:0030153","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030153","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHOLANGIOCARCINOMA","geneSymbols":["BMP6","DZIP1L","GPR35","HFE","MST1","PKHD1","SEMA4D","TCF4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FLANK_PAIN":{"collection":"C5:HPO","systematicName":"M38330","pmid":"","exactSource":"HP:0030157","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030157","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FLANK_PAIN","geneSymbols":["APRT","CALR","JAK2","MPL","TBX18","TET2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_VASCULAR_PHYSIOLOGY":{"collection":"C5:HPO","systematicName":"M38331","pmid":"","exactSource":"HP:0030163","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030163","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_VASCULAR_PHYSIOLOGY","geneSymbols":["ABCC6","ABCD4","ACP5","ACTA2","ACTB","ACTC1","ACTG1","ACVRL1","ADA2","ADAMTS13","ADAR","AFF4","AGGF1","AGK","AGR2","AGXT","AKT1","ALB","ALDH1A2","ALMS1","ANGPTL6","APP","ARHGAP31","ARSB","ATP13A3","ATP5F1A","ATRX","BANF1","BANK1","BAZ1B","BCL7B","BLK","BMP6","BMPR2","BRAF","BRCC3","BTNL2","BUD23","C4A","C4B","CA2","CACNA1C","CACNA1D","CALR","CAV1","CBS","CCN2","CCR1","CCR6","CD55","CDH23","CHST3","CITED2","CLCN7","CLCNKB","CLIP2","COG1","COL1A1","COL1A2","COL3A1","COL4A1","COL5A1","COL5A2","COLGALT1","COLQ","COQ2","COX5A","COX6B1","COX7B","COX8A","CR2","CTCF","CTLA4","CTNNB1","DEF6","DLK1","DLL4","DNAJC30","DNASE1","DOCK6","EIF2AK4","EIF4H","ELN","ENG","ENPP1","EOGT","EPHB4","ERAP1","ETS1","F13A1","F2","F5","F8","FAS","FBN1","FCGR2B","FCGR3B","FGFR1","FGFR3","FIG4","FKBP14","FKBP6","FLNA","FLNC","FOXE3","FOXF1","FOXP1","FSHR","G6PC3","GATA4","GATA6","GBA1","GDF2","GLA","GNAQ","GNB2","GTF2I","GTF2IRD1","GTF2IRD2","GUCY1A1","HABP2","HBB","HEY2","HFE","HLA-B","HLA-DPA1","HLA-DPB1","HLA-DRB1","HRAS","HSPG2","HTRA1","IDUA","IFIH1","IFNGR1","IGHG1","IKBKG","IL10","IL12A","IL12A-AS1","IL12B","IL23R","IL6ST","IPO8","IRAK1","IRF5","ITGAM","JAK2","JAZF1","KCNJ5","KCNK3","KCNN4","KIAA0319L","KIF20A","KLRC4","KMT2D","KRAS","KRT18","LAMA2","LAMB2","LARS2","LBR","LCK","LIFR","LIMK1","LIPT1","LMNA","LOX","LSM11","MAT2A","MECP2","MED12","MED25","MEFV","MEG3","METTL27","MFAP5","MGP","MLX","MLXIPL","MMACHC","MPL","MT-CO1","MT-CO2","MT-CO3","MT-ND1","MT-ND4","MT-ND5","MT-ND6","MT-TF","MT-TH","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TW","MTHFR","MUC5B","MYBPC3","MYH11","MYH6","MYH7","MYLK","MYMK","MYPN","NAA10","NAGA","NAGS","NCF1","NDUFA8","NDUFB10","NF1","NFIX","NFU1","NKX2-1","NKX2-5","NOD2","NOTCH1","NOTCH3","NPPA","NR3C1","NT5E","ODAD1","P4HA2","PAM16","PDCD1","PDSS1","PGM1","PIEZO1","PIGA","PIGN","PIK3C2A","PIK3CA","PLOD1","PLOD3","PLP1","PPCS","PRIM1","PRKG1","PROC","PROS1","PRTN3","PTEN","PTPN22","PXK","RASA1","RBPJ","RFC2","RHAG","RNASEH2A","RNASEH2B","RNASEH2C","RNF125","RNF213","RNU7-1","RPL3L","RTL1","RYR1","SAMHD1","SARS2","SAT1","SCARB2","SCN5A","SCNN1A","SCNN1B","SCNN1G","SERPINC1","SFTPA2","SFTPB","SFTPC","SH2B3","SLC12A3","SLC25A24","SLC29A3","SLC2A10","SLC34A2","SLC37A4","SLC4A1","SMAD2","SMAD3","SMAD4","SMAD9","SMARCAL1","SNX10","SON","SPP1","STAT1","STAT4","STING1","STX1A","TBL2","TBX20","TBX4","TCIRG1","TERC","TERT","TET2","TGFB2","TGFB3","TGFBR1","TGFBR2","TGFBR3","THBD","THPO","THSD1","THSD4","TINF2","TLL1","TLR4","TLR7","TMEM270","TNFAIP3","TNFSF11","TNFSF4","TNIP1","TNNI3","TNNT2","TOM1","TP53","TREX1","TRRAP","TTC26","UBAC2","UBE2A","UBE2L3","USP48","USP8","VAC14","VCL","VHL","VPS33A","VPS37D","XPNPEP2","XYLT1","XYLT2","ZMPSTE24","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NIGHT_SWEATS":{"collection":"C5:HPO","systematicName":"M38332","pmid":"","exactSource":"HP:0030166","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030166","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NIGHT_SWEATS","geneSymbols":["BCL2","BCL6","GATA2","HLA-DRB1","IFNGR1","JAG1","NAB2","SDHD","SLC25A13","STAT6","TH","TSPOAP1","UBA1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PERIPHERAL_HYPERMYELINATION":{"collection":"C5:HPO","systematicName":"M38333","pmid":"","exactSource":"HP:0030173","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030173","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERIPHERAL_HYPERMYELINATION","geneSymbols":["EGR2","MPZ","MTMR2","NEFL","PMP22","PRX","SBF1","SBF2","SOX10"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_CENTRAL_NERVOUS_SYSTEM_ELECTROPHYSIOLOGY":{"collection":"C5:HPO","systematicName":"M38335","pmid":"","exactSource":"HP:0030178","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030178","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_CENTRAL_NERVOUS_SYSTEM_ELECTROPHYSIOLOGY","geneSymbols":["AARS1","AARS2","AASS","ABAT","ABCA5","ABCC8","ABCD1","ACOX1","ACTL6B","ADARB1","ADGRG1","ADGRV1","ADK","ADRA2B","AFG3L2","AGRN","AHDC1","AHSG","AIMP1","AIMP2","AKT3","ALDH4A1","ALDH5A1","ALDH7A1","ALG1","ALG11","ALG13","ALG14","ALG2","ALG3","AMT","ANKRD11","ANKRD17","ANTXR1","AP1S2","AP2M1","AP3B2","AP3D1","APC2","APOL2","APOL4","ARFGEF1","ARFGEF2","ARG1","ARHGAP31","ARHGEF2","ARHGEF9","ARV1","ARX","ASL","ASNS","ASPA","ATAD1","ATN1","ATP10A","ATP1A2","ATP1A3","ATP6V0A1","ATP6V1A","ATP6V1B2","ATP7A","ATXN1","ATXN10","B3GALNT2","BCS1L","BRAF","BRAT1","C1QBP","CABP4","CACNA1A","CACNA1B","CACNA1E","CACNA1G","CACNA1H","CACNA2D1","CACNB4","CAMK2A","CAMSAP1","CARS2","CASK","CASZ1","CCDC47","CCDC88A","CDK19","CDK5","CDKL5","CELF2","CEP85L","CERS1","CHAT","CHD2","CHI3L1","CHMP2B","CHRNA2","CHRNA4","CHRNB2","CILK1","CLCN2","CLCN4","CLCN6","CLN5","CLN8","CLTC","CLTCL1","CLTRN","CNKSR2","CNPY3","CNTN2","CNTNAP2","COL13A1","COMT","COX16","COX4I1","CPA6","CPLX1","CPT1C","CREBBP","CRH","CRPPA","CSTB","CTBP1","CTNNA2","CTNND2","CUL3","CUL4B","CUX2","CYFIP2","CYP27A1","D2HGDH","DAG1","DALRD3","DAOA","DCX","DDB2","DEAF1","DENND5A","DEPDC5","DHDDS","DHPS","DIAPH3","DLL4","DMXL2","DNM1","DNM2","DOCK6","DOCK7","DOLK","DPAGT1","DPM1","DPM2","DPYD","DRD3","EBP","EDNRB","EEF1A2","EFHC1","EIF2S3","EMC1","EOGT","EP300","EPG5","EPM2A","ERCC1","ERCC2","ERCC3","ERCC4","ERCC5","ERCC6","ERCC8","ERMARD","EXOC8","FARS2","FBXO28","FDXR","FGF12","FGF13","FGFRL1","FKRP","FKTN","FLCN","FLII","FOXG1","FOXP1","FRRS1L","FZR1","GABBR2","GABRA1","GABRA2","GABRA5","GABRB1","GABRB2","GABRB3","GABRD","GABRG2","GAD1","GALC","GFM2","GJC2","GLS","GLUD1","GLYCTK","GMPPB","GNAO1","GNB1","GNB2","GNB5","GOLGA2","GON7","GOSR2","GPAA1","GRIA1","GRIA3","GRIA4","GRIN1","GRIN2A","GRIN2B","GRIN2D","GRM7","GRN","GUF1","HCFC1","HCN1","HECW2","HIBCH","HIC1","HID1","HIKESHI","HMGCL","HNRNPU","HRAS","HSPG2","HTR2A","IARS2","IER3IP1","IQSEC2","IREB2","ITGB6","JRK","KANSL1","KARS1","KCNA1","KCNA2","KCNAB2","KCNB1","KCNC1","KCNC2","KCNH1","KCNJ11","KCNMA1","KCNQ2","KCNQ3","KCNT1","KCNT2","KCTD7","KDM6A","KIF1A","KMT2D","KPNA3","KPTN","KRAS","LAGE3","LAMC3","LARGE1","LARS2","LETM1","LGI1","LIPT2","LMNB1","LONP1","LRPPRC","LSS","LUZP1","MADD","MAF","MAP1B","MAP2K1","MAP2K2","MAPK10","MAPT","MARCHF6","MCOLN1","MDH1","MECP2","MED13L","MED17","MFF","MFSD8","MGAT2","MMP23B","MOGS","MORC2","MPDU1","MT-CO1","MT-CO2","MT-CO3","MT-ND1","MT-ND4","MT-ND5","MT-ND6","MT-TF","MT-TH","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TW","MTHFR","MTHFS","MTMR2","MTOR","MYD88","MYH3","MYO9A","NACC1","NALCN","NARS2","NAXD","NBEA","NDP","NDRG1","NDUFA9","NDUFAF8","NECAP1","NECTIN1","NEDD4L","NEFL","NEU1","NEUROD2","NEXMIF","NF1","NGLY1","NHLRC1","NLGN3","NLGN4X","NLRP3","NMNAT1","NOTCH1","NOTCH2NLC","NPRL2","NPRL3","NRAS","NSD2","NSF","NSRP1","NTNG1","NTNG2","NTRK2","NUP107","NUP133","NUP188","NUS1","OCA2","OCRL","OGDHL","OPA1","OSGEP","OTOF","P4HTM","PACS2","PAFAH1B1","PARS2","PCDH12","PCDH19","PCK1","PDE2A","PDHA1","PDPN","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PGAP2","PGAP3","PHACTR1","PHF6","PHGDH","PI4KA","PIDD1","PIGA","PIGG","PIGL","PIGO","PIGP","PIGQ","PIGS","PIGT","PIGV","PIGW","PIGY","PIK3CA","PLAA","PLCB1","PLCH1","PLP1","PLPBP","PNKP","PNPO","POGZ","POLG","POMGNT1","POMT1","POMT2","PPFIBP1","PPP3CA","PPT1","PRDM16","PRICKLE1","PRKAG2","PRKCZ","PRNP","PRODH","PRPS1","PRRT2","PRUNE1","PSAP","PSAT1","PSEN1","PTPN23","PTRH2","PTS","PURA","RAI1","RBPJ","RELN","RERE","RIPOR2","RMRP","RNF13","ROGDI","RPL10","RTN2","RTN4R","RTTN","RUSC2","SACS","SAMD12","SATB1","SCARB2","SCN1A","SCN1B","SCN2A","SCN3A","SCN8A","SCN9A","SEMA6B","SETBP1","SETD1B","SH3TC2","SHQ1","SIK1","SKI","SLC12A5","SLC12A6","SLC13A5","SLC18A3","SLC1A2","SLC1A3","SLC1A4","SLC25A1","SLC25A10","SLC25A22","SLC25A46","SLC2A1","SLC32A1","SLC33A1","SLC35A2","SLC38A3","SLC39A8","SLC44A1","SLC5A7","SLC6A1","SLC6A19","SLC9A6","SMC1A","SMS","SNAP25","SNIP1","SNRPN","SOX10","SPATA5","SPEN","SPTAN1","SPTBN1","SPTBN4","SQSTM1","SRPX2","ST3GAL3","ST3GAL5","STARD7","STRADA","STUB1","STX1B","STXBP1","SUOX","SYN2","SYNGAP1","SYNJ1","SYT1","SYT2","SZT2","TBC1D24","TBC1D2B","TBCK","TBK1","TBL1XR1","TET3","TFE3","TGFB1","TICAM1","TIMM50","TIMM8A","TLR3","TMEM106B","TP53RK","TPRKB","TRAF3","TRAK1","TRAPPC11","TRAPPC12","TREM2","TRIM8","TRIT1","TRPM3","TTPA","TUBB2A","TUBGCP2","TYROBP","UBA5","UBAP1","UBE3A","UBE4B","UBTF","UFC1","UGDH","UNC80","UNC93B1","UPB1","VAMP1","VAMP2","VARS1","VARS2","VCP","WASHC5","WDR4","WDR45","WDR62","WDR73","WWOX","XPA","XPC","YEATS2","YME1L1","YRDC","YWHAE","YWHAG","ZEB2","ZNF148","ZNF526","ZNHIT3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_PERIPHERAL_ACTION_POTENTIAL_AMPLITUDE":{"collection":"C5:HPO","systematicName":"M43474","pmid":"","exactSource":"HP:0030179","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030179","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PERIPHERAL_ACTION_POTENTIAL_AMPLITUDE","geneSymbols":["ALS2","ATL1","ATL3","ATXN1","BSCL2","CADM3","CCT5","DHX16","DNAJB6","EMILIN1","FXN","GDAP1","HK1","HSPB8","KARS1","LITAF","LMNA","MORC2","MPV17","NDRG1","NEFL","PMP2","RAB7A","RFC1","SBF2","SETX","SIGMAR1","SORD","SPTLC1","SPTLC2","SYT2","TFG","TRPV4","UBA1","UQCRC1","VAMP1","VPS13A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_TETRAPLEGIA_TETRAPARESIS":{"collection":"C5:HPO","systematicName":"M38336","pmid":"","exactSource":"HP:0030182","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030182","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TETRAPLEGIA_TETRAPARESIS","geneSymbols":["AASS","ABCD1","ADAR","AFF3","AGTPBP1","AIFM1","ALDH18A1","ALG3","ALS2","APOE","ARFGEF2","ARSA","ARX","ATP1A2","ATP1A3","ATP5F1A","ATP5F1D","ATP5F1E","ATP5MK","ATP6V1A","ATPAF1","ATPAF2","AUH","BCAP31","BCAS3","BSCL2","BUB1B","C9orf72","CA2","CACNA1A","CACNA1S","CARS2","CHCHD10","COA8","COL4A1","DOLK","DPYD","DYM","EARS2","EIF2S3","ERLIN2","EXOSC8","FA2H","FAR1","FBLN1","FGFR1","FUS","GABRA3","GAD1","GALC","GBE1","GJA1","GM2A","GSS","GUF1","HINT1","HSD17B10","IFIH1","KCNJ18","KCNJ6","KCNQ2","KCNT1","KRAS","L2HGDH","LIMS2","LIPT1","LIPT2","LMNB1","LMX1B","LRP4","LYRM7","MC2R","MFSD2A","MOCS1","MRAP","MRM2","MT-ATP6","MT-ATP8","NADK2","NAXE","NDUFA8","NDUFS3","NEK1","NEXMIF","NFU1","NHLRC2","NMNAT1","NNT","NUP54","NUP62","PAFAH1B1","PDHX","PHACTR1","PLA2G6","PLP1","PNKP","PNP","POLG","POLR3K","PPOX","PRDM8","PRF1","PRPS1","PRUNE1","PSAP","PSAT1","PSEN1","RANBP2","REEP1","RERE","RNU7-1","SARDH","SDHA","SDHAF1","SDHB","SDHD","SELENOI","SLC18A2","SLC19A3","SLC1A2","SLC1A3","SLC25A10","SLC35A2","SMC1A","SOD1","SOX4","SQSTM1","STAMBP","STAR","STXBP1","TACO1","TARDBP","TBCD","TBCE","TBK1","TFG","TMEM222","TNFRSF11A","TNR","TRAPPC2L","TRAPPC4","TUBB2B","TXNRD2","UCHL1","UGP2","VCP","WDR62"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_KINETIC_TREMOR":{"collection":"C5:HPO","systematicName":"M38337","pmid":"","exactSource":"HP:0030186","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030186","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_KINETIC_TREMOR","geneSymbols":["AARS1","ABCB7","ABHD12","ADPRS","AFG3L2","AKT1","AMACR","ANO10","ARSA","ATCAY","ATM","ATP2B3","ATXN10","ATXN2","CACNA1A","CACNA1C","CAMTA1","CARS1","CCDC88C","CSTB","CTDP1","CWF19L1","ELOVL4","EPRS1","ERCC2","ERCC3","ERCC6","ERCC8","FARS2","FBXO7","FMR1","FXN","GJB1","GJC2","GRIK2","GSS","GTF2E2","GTF2H5","HSD17B4","HYCC1","ITM2B","ITPR1","KCNJ10","KCNK4","KCNN2","KIF1C","KNSTRN","LEMD2","LMAN2L","LMNB1","MAOA","MPLKIP","MRE11","NFASC","NKX2-1","NONO","NOP56","NOTCH2NLC","OPHN1","PEX10","PI4KA","PIK3CA","PIK3CD","PLA2G6","PLP1","PMM2","PNPLA6","POLG","POLR3A","POLR3B","POU4F1","PPP1R15B","PPP2R2B","PRICKLE1","PSAP","PTEN","QRICH1","RARS1","RFC1","RNF113A","RNU12","SACS","SCARB2","SCP2","SCYL1","SEMA6B","SLC25A46","SMG9","SNCA","SPTBN1","SPTBN2","TARS1","TBP","TECR","TENM4","TGM6","TMCO1","TMEM106B","TMEM240","TMEM63A","TMEM70","TPK1","TPR","TTR","UCHL1","UFC1","VLDLR","VWA3B","WDR81","XPNPEP3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_TITUBATION":{"collection":"C5:HPO","systematicName":"M38338","pmid":"","exactSource":"HP:0030187","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030187","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TITUBATION","geneSymbols":["AARS1","ACBD5","ALS2","BRAT1","EIF2AK2","FLVCR1","FUS","GJC2","HIBCH","HSPD1","HYCC1","IFRD1","ITPR1","KARS1","KCNC3","KIF1C","LAMA1","LMNB1","MAG","NKX6-2","PI4KA","PITRM1","PLP1","RNU12","SIGMAR1","SLC19A3","SPG11","SPTBN1","SPTLC1","THG1L","TMEM63A","TPP1","UCHL1","VPS13A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_TREMOR_BY_ANATOMICAL_SITE":{"collection":"C5:HPO","systematicName":"M38339","pmid":"","exactSource":"HP:0030188","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030188","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TREMOR_BY_ANATOMICAL_SITE","geneSymbols":["AARS1","AARS2","ABCB6","ADRA2B","AFG3L2","ALS2","ANO3","ATP7B","CACNA1G","CAMTA1","CARS2","CDC42BPB","CEP104","CIZ1","CLN5","CNTN2","COL6A3","CTNND2","DDC","DNMT1","DRD3","EIF2AK2","ERLIN2","FGF14","FUS","GBA2","GCK","GJB1","GJC2","GRIA3","HIBCH","HSPD1","IFRD1","ITPA","ITPR1","KARS1","KCNN2","KIF1C","LAMA1","LMNB1","MARCHF6","MARS1","MFN2","MORC2","MPZ","MYBPC1","NEFL","NGF","NKX6-2","NOP56","NOTCH2NLC","NPTX1","PDGFB","PDK3","PEX16","PEX6","PGAP1","PHIP","PI4KA","PIK3R5","PLA2G6","PLP1","PMP2","PMP22","POLG","PPP2R2B","RAB3GAP2","RNU12","SAMD12","SCP2","SETX","SH3TC2","SIGMAR1","SLC12A6","SLC6A17","SMN1","SMN2","SNRPN","SPG11","SPTBN1","SPTLC1","STUB1","TAF1","TBC1D24","TENM4","TFG","TMEM63A","TOR1A","TRAPPC6B","TRIM8","TSHR","TUBB4A","UBE3A","UCHL1","VPS13A","VRK1","YEATS2","ZFR","ZFYVE26"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FATIGABLE_WEAKNESS_OF_BULBAR_MUSCLES":{"collection":"C5:HPO","systematicName":"M38340","pmid":"","exactSource":"HP:0030192","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030192","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FATIGABLE_WEAKNESS_OF_BULBAR_MUSCLES","geneSymbols":["ACTA1","ANG","ANXA11","ATXN2","CCNF","CFAP410","CHCHD10","CHMP2B","COA8","DAO","DCTN1","DES","DKK1","EPHA4","ERBB4","FIG4","FUS","GIPC1","GLE1","GLT8D1","GMPPB","HACD1","HNRNPA1","ITGA7","KBTBD13","KLHL41","LPIN1","LRP12","MAP3K20","MATR3","MT-CO1","MT-CO3","MTM1","MYL2","MYPN","NEB","NEFH","NEK1","NGLY1","NOTCH2NLC","OBSCN","OPTN","PFN1","PON1","PON2","PON3","PPARGC1A","PRPH","RILPL1","SELENON","SOD1","SQSTM1","TAF15","TARDBP","TBK1","TPM2","TPM3","TREM2","UBQLN2","UNC13A","VAPB","VCP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FATIGABLE_WEAKNESS_OF_SWALLOWING_MUSCLES":{"collection":"C5:HPO","systematicName":"M38341","pmid":"","exactSource":"HP:0030195","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030195","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FATIGABLE_WEAKNESS_OF_SWALLOWING_MUSCLES","geneSymbols":["ANG","ANXA11","ATXN2","CCNF","CFAP410","CHCHD10","CHMP2B","COA8","DAO","DCTN1","DKK1","EPHA4","ERBB4","FIG4","FUS","GLE1","GLT8D1","HNRNPA1","LPIN1","MATR3","MT-CO1","MT-CO3","MTM1","NEFH","NEK1","OBSCN","OPTN","PFN1","PON1","PON2","PON3","PPARGC1A","PRPH","SOD1","SQSTM1","TAF15","TARDBP","TBK1","TREM2","UBQLN2","UNC13A","VAPB","VCP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FATIGABLE_WEAKNESS_OF_RESPIRATORY_MUSCLES":{"collection":"C5:HPO","systematicName":"M38342","pmid":"","exactSource":"HP:0030196","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030196","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FATIGABLE_WEAKNESS_OF_RESPIRATORY_MUSCLES","geneSymbols":["ACTA1","AGRN","AK9","ANG","ANXA11","ATXN2","CACNA1S","CCNF","CFAP410","CFL2","CHCHD10","CHMP2B","CHRNA1","CHRNB1","CHRND","CHRNE","COL13A1","DAO","DCTN1","DES","DOK7","EPHA4","ERBB4","FIG4","FUS","GLE1","GLT8D1","HNRNPA1","KCNE3","KLHL41","LMOD3","LRP4","MATR3","MUSK","NEB","NEFH","NEK1","OPTN","PFN1","PON1","PON2","PON3","PPARGC1A","PRPH","RAPSN","RNASEH1","RRM2B","SCN4A","SOD1","SQSTM1","TAF15","TARDBP","TBK1","TPM2","TREM2","UBQLN2","UNC13A","VAPB","VCP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FATIGABLE_WEAKNESS_OF_SKELETAL_MUSCLES":{"collection":"C5:HPO","systematicName":"M38343","pmid":"","exactSource":"HP:0030197","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030197","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FATIGABLE_WEAKNESS_OF_SKELETAL_MUSCLES","geneSymbols":["ACADM","ACTA1","AGRN","AK9","ATRX","BRAF","CASQ1","CDH23","CFL2","CHRNA1","CHRNB1","CHRND","CHRNE","COL13A1","DOK7","FKRP","FLNC","GMPPB","HINT1","KCNK9","KLHL41","LARGE1","LDB3","LMOD3","LRP4","MINPP1","MUSK","MYPN","NEB","NR3C1","ORAI1","POMT1","POMT2","RAPSN","SCN4A","SLC18A3","STIM1","SYNE1","TFG","TOE1","TP53","TPM2","TPM3","USP48","USP8"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FATIGABLE_WEAKNESS_OF_DISTAL_LIMB_MUSCLES":{"collection":"C5:HPO","systematicName":"M38344","pmid":"","exactSource":"HP:0030198","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030198","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FATIGABLE_WEAKNESS_OF_DISTAL_LIMB_MUSCLES","geneSymbols":["ACTA1","CFL2","HINT1","KLHL41","LDB3","LMOD3","NEB","TPM2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FATIGUABLE_WEAKNESS_OF_PROXIMAL_LIMB_MUSCLES":{"collection":"C5:HPO","systematicName":"M38345","pmid":"","exactSource":"HP:0030200","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030200","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FATIGUABLE_WEAKNESS_OF_PROXIMAL_LIMB_MUSCLES","geneSymbols":["ACTA1","ATRX","BRAF","CASQ1","CDH23","CFL2","FLNC","KCNK9","KLHL41","LMOD3","MYPN","NEB","NR3C1","ORAI1","STIM1","SYNE1","TFG","TP53","TPM2","TPM3","USP48","USP8"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RESPONSE_TO_DRUGS_ACTING_ON_NEUROMUSCULAR_TRANSMISSION":{"collection":"C5:HPO","systematicName":"M38346","pmid":"","exactSource":"HP:0030201","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030201","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RESPONSE_TO_DRUGS_ACTING_ON_NEUROMUSCULAR_TRANSMISSION","geneSymbols":["ALG14","ALG2","COLQ","DPAGT1","GFPT1","GMPPB","LAMB2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INCREASED_JITTER_AT_SINGLE_FIBER_EMG":{"collection":"C5:HPO","systematicName":"M47242","pmid":"","exactSource":"HP:0030205","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030205","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_JITTER_AT_SINGLE_FIBER_EMG","geneSymbols":["ALG14","ALG2","COL13A1","DPAGT1","GFPT1","GMPPB","SLC25A1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ANTI_ACETYLCHOLINE_RECEPTOR_ANTIBODY_POSITIVITY":{"collection":"C5:HPO","systematicName":"M47243","pmid":"","exactSource":"HP:0030208","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030208","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANTI_ACETYLCHOLINE_RECEPTOR_ANTIBODY_POSITIVITY","geneSymbols":["AGRN","ALG14","CHAT","CHRNA1","CHRNB1","CHRND","CHRNE","COL13A1","COLQ","DOK7","MYO9A","PLEC","PREPL","RAPSN","SCN4A","SLC18A3","SLC25A1","SLC5A7","SNAP25","SYT2","VAMP1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SLOW_PUPILLARY_LIGHT_RESPONSE":{"collection":"C5:HPO","systematicName":"M41499","pmid":"","exactSource":"HP:0030211","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030211","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SLOW_PUPILLARY_LIGHT_RESPONSE","geneSymbols":["AIMP1","CHRM3","CHRNA3","COL18A1","COL25A1","COLQ","GALC","KIF21A","LAMB2","MPZ","PHOX2A","PMP22","PRPS1","PSAP","TUBA1A","TUBB2B","TUBB3","TULP1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_COLLECTIONISM":{"collection":"C5:HPO","systematicName":"M38347","pmid":"","exactSource":"HP:0030212","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030212","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_COLLECTIONISM","geneSymbols":["CHMP2B","GRN","HTR2A","MAPT","PSEN1","SLC6A4","SQSTM1","TMEM106B","TREM2","VCP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INAPPROPRIATE_CRYING":{"collection":"C5:HPO","systematicName":"M38348","pmid":"","exactSource":"HP:0030215","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030215","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INAPPROPRIATE_CRYING","geneSymbols":["ALG9","CDKL5","FOCAD","FOXG1","GABBR2","GALC","IQSEC2","KIF15","MECP2","NTNG1","PHGDH","PIGS","PSAP","PSAT1","SLC18A2","SLC19A3","SMC1A","TBC1D2B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INERTIA":{"collection":"C5:HPO","systematicName":"M47244","pmid":"","exactSource":"HP:0030216","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030216","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INERTIA","geneSymbols":["ATXN1","FMR1","JPH3","PANK2","PRKAR1B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PUNDING":{"collection":"C5:HPO","systematicName":"M46271","pmid":"","exactSource":"HP:0030218","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030218","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PUNDING","geneSymbols":["CACNA1H","GABRA1","GABRB3","GABRG2","JRK","SLC2A1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_VISUAL_AGNOSIA":{"collection":"C5:HPO","systematicName":"M41500","pmid":"","exactSource":"HP:0030222","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030222","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VISUAL_AGNOSIA","geneSymbols":["ABCD1","CEP85L","CHMP2B","GRN","MAPT","PSEN1","TMEM106B","TREM2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MANIFESTATIONS_OF_PERSEVERATIVE_THOUGHT_OR_ACTION":{"collection":"C5:HPO","systematicName":"M38349","pmid":"","exactSource":"HP:0030223","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030223","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MANIFESTATIONS_OF_PERSEVERATIVE_THOUGHT_OR_ACTION","geneSymbols":["CHCHD10","CHMP2B","CIC","FUS","GRN","MAPT","NONO","NOTCH3","NPC2","PRNP","PSEN1","SQSTM1","TACO1","TARDBP","TBK1","TMEM106B","TREM2","TTPA","USP7","VCP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HIGHLY_ELEVATED_CREATINE_KINASE":{"collection":"C5:HPO","systematicName":"M41501","pmid":"","exactSource":"HP:0030234","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030234","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HIGHLY_ELEVATED_CREATINE_KINASE","geneSymbols":["ANO5","CRPPA","DPM3","FDX2","LAMA2","LPIN1","MT-CO1","MT-CO3","OBSCN","POPDC3","PYGM"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_MUSCLE_SIZE":{"collection":"C5:HPO","systematicName":"M38350","pmid":"","exactSource":"HP:0030236","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030236","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_MUSCLE_SIZE","geneSymbols":["AARS1","ABCA1","ABCC8","ABHD12","ACADM","ACADSB","ACTA1","ACTB","ACTN2","ADARB1","ADCY6","ADK","ADSL","ADSS1","AFF4","AFG3L2","AGA","AGL","AGPAT2","AGRN","AGTPBP1","AIFM1","AIMP1","AIP","AK9","AKT1","ALDH18A1","ALG3","ALG6","ALG8","ALG9","ALS2","AMPD1","AMPD2","ANG","ANO5","ANTXR2","ANXA11","AP1S2","APTX","AR","ARCN1","ARID1A","ARL6","ARMC5","ARSB","ARSI","ASAH1","ASCC1","ATAD3A","ATL1","ATL3","ATM","ATP13A2","ATP1A1","ATP2A1","ATP6V0A2","ATP6V1B2","ATP7A","ATP8A2","ATRX","ATXN1","ATXN2","ATXN3","B3GALNT2","B4GALNT1","B4GALT7","B4GAT1","BAG3","BAZ1B","BBIP1","BBS1","BBS10","BBS12","BBS2","BBS4","BBS5","BBS7","BBS9","BCL7B","BICD2","BIN1","BMP1","BRAF","BSCL2","BUD23","BVES","C19orf12","C2orf69","C9orf72","CA8","CADM3","CAPN1","CAPN3","CARS1","CAV1","CAV3","CAVIN1","CCDC115","CCDC47","CCNF","CCT5","CD28","CD59","CDCA7","CDH23","CDKN1C","CEP126","CEP19","CEP290","CFAP410","CFAP418","CHAT","CHCHD10","CHMP2B","CHN1","CHP1","CHRNA1","CHRNB1","CHRND","CHRNE","CHRNG","CIDEC","CIZ1","CLCN1","CLIP2","CNBP","CNTNAP1","COA7","COASY","COG7","COG8","COL12A1","COL13A1","COL25A1","COL2A1","COL4A1","COL6A1","COL6A2","COL6A3","COL7A1","COLEC11","COLQ","COMP","COQ2","CPLANE1","CPSF3","CPT1A","CPT1C","CRPPA","CTLA4","CTNS","CUL4B","CYP27A1","CYP7B1","DAG1","DALRD3","DAO","DARS2","DCAF8","DCTN1","DES","DGUOK","DHH","DHTKD1","DHX16","DIAPH1","DLK1","DMD","DNA2","DNAJB2","DNAJC19","DNAJC30","DNM1L","DNM2","DNMT3B","DOK7","DPM3","DUOX2","DUOXA2","DUX4","DUX4L1","DVL1","DYNC1H1","DYSF","EGR2","EHMT1","EIF4H","ELN","EMD","ENTPD1","EPHA4","ERBB3","ERBB4","ERCC6","ERCC8","ERGIC1","ERLIN1","ERLIN2","EXOSC3","EXOSC8","EXOSC9","FAM111B","FARS2","FBLN5","FBN2","FBXL4","FBXO38","FDX2","FGD4","FHL1","FIBP","FIG4","FITM2","FKBP14","FKBP6","FKRP","FKTN","FLNA","FLNC","FLRT1","FLVCR1","FLVCR2","FOS","FOXE1","FOXG1","FOXP2","FRG1","FUCA1","FUS","FXN","GAA","GAN","GARS1","GATA1","GBA2","GBE1","GBF1","GDAP1","GFPT1","GIPC1","GJB1","GLB1","GLE1","GLT8D1","GMPPB","GNAS","GNB4","GNE","GNPTAB","GNS","GPC3","GPC4","GPR101","GPR35","GRIA3","GTF2I","GTF2IRD1","GTF2IRD2","GUSB","GYG1","H4C11","HACD1","HARS1","HBB","HELLS","HESX1","HEXB","HINT1","HK1","HMGA2","HNRNPA1","HNRNPA2B1","HNRNPDL","HNRNPK","HRAS","HS2ST1","HSPB1","HSPB3","HSPB8","HSPG2","HUWE1","HYCC1","HYMAI","IBA57","IDS","IDUA","IFRD1","IFT140","IFT172","IFT27","IFT74","IGF2","IGHMBP2","IL6ST","INF2","INPP5E","INPP5K","INSR","IPO8","ISCU","ITGA7","ITPR3","IYD","JAG1","JAG2","JPH1","KANSL1","KAT6A","KBTBD13","KCNA1","KCNH1","KCNJ11","KCNK9","KCNMA1","KCNN3","KCNQ1","KCNQ1OT1","KDM5C","KIF1A","KIF1B","KIF1C","KIF21A","KIF5A","KLC2","KLHL40","KLHL41","KLHL9","KLLN","KRT14","KRT5","KY","LAMA2","LAMB2","LAMP2","LARGE1","LDB3","LEMD3","LETM1","LHX3","LHX4","LIMK1","LIMS2","LIPE","LITAF","LMNA","LMNB2","LMOD3","LMX1B","LRP12","LRP4","LRSAM1","LTBP4","LZTFL1","MAFB","MAG","MAN2B1","MAN2C1","MAP3K20","MAP3K7","MARS1","MATR3","MB","MBD5","MCCC2","MDH2","MECP2","MED13L","MED25","MEG3","MEGF10","METTL27","MFN2","MGME1","MICU1","MINPP1","MKKS","MKS1","MLIP","MLXIPL","MME","MORC2","MPV17","MPZ","MRE11","MST1","MSTN","MSTO1","MT-ATP8","MT-TE","MT-TL1","MTAP","MTMR14","MTMR2","MTRFR","MUSK","MYBPC1","MYF6","MYH14","MYH3","MYH7","MYL2","MYMK","MYMX","MYO9A","MYOD1","MYOT","MYPN","NAGA","NALCN","NARS2","NBN","NCF1","NDE1","NDRG1","NDUFA12","NDUFA8","NDUFA9","NDUFAF6","NDUFB8","NDUFS2","NDUFS4","NEB","NEFH","NEFL","NEK1","NEK9","NEMF","NEU1","NEXMIF","NGLY1","NIPA1","NKX2-1","NKX2-5","NOP56","NOTCH2NLC","NPHP1","NPPA","NR3C1","NT5C2","NUP88","OGDH","OPA1","OPTN","PAX7","PAX8","PDK3","PDXK","PEX1","PEX10","PEX5","PEX6","PEX7","PFKM","PFN1","PGAP1","PHF6","PHKA1","PHKA2","PHKB","PHKG2","PHYH","PIEZO2","PIGA","PIGS","PIGW","PIK3C2A","PIK3CA","PIK3R2","PIK3R5","PIP5K1C","PLAGL1","PLEC","PLEKHG5","PLIN1","PLOD3","PLP1","PLXND1","PMP2","PMP22","PNKP","PNPLA2","PNPLA6","PNPT1","POGLUT1","POLG","POLR2A","POLR3A","POLRMT","POMGNT1","POMGNT2","POMK","POMT1","POMT2","PON1","PON2","PON3","POP1","POPDC3","POU1F1","PPARG","PPARGC1A","PQBP1","PRKAG2","PROP1","PRPH","PRPS1","PRUNE1","PRX","PSMB8","PSMG2","PTEN","PTRH2","PUS1","PYCR2","PYGM","PYROXD1","RAB7A","RAI1","RAPSN","RASA1","RBCK1","RBM28","RBM8A","RECQL","REEP1","RETREG1","REV3L","RFC2","RILPL1","RMRP","RNASEH1","RNF125","RNF170","ROR2","RPS6KA3","RRM2B","RTL1","RTN2","RXYLT1","RYR1","RYR3","SACS","SALL4","SBF1","SBF2","SCAPER","SCLT1","SCN4A","SCN5A","SCN9A","SCO2","SCYL1","SCYL2","SDCCAG8","SDHA","SDHAF1","SDHB","SDHC","SDHD","SEC23B","SELENON","SEMA4D","SEPTIN9","SETBP1","SETX","SFXN4","SGCA","SGCB","SGCD","SGCG","SH3TC2","SHOX","SIGMAR1","SIL1","SLC12A6","SLC16A2","SLC18A3","SLC25A1","SLC25A19","SLC25A21","SLC25A4","SLC25A46","SLC26A4","SLC33A1","SLC39A13","SLC46A1","SLC52A2","SLC52A3","SLC5A5","SLC5A6","SLC5A7","SLC7A7","SLC9A6","SMAD4","SMARCA4","SMARCB1","SMCHD1","SMN1","SMN2","SMPD1","SNAP25","SNIP1","SNRPN","SNX14","SOD1","SOX10","SPART","SPAST","SPEG","SPG11","SPRTN","SPTBN4","SPTLC1","SPTLC2","SQSTM1","SRY","STAC3","STAT1","STIM1","STING1","STT3A","STUB1","STX1A","SUCLA2","SUCLG1","SURF1","SVBP","SYNE1","SYNE2","SYT2","TAF15","TARDBP","TBC1D23","TBCD","TBCE","TBCK","TBK1","TBL2","TBX3","TBX5","TCAP","TCF4","TDP1","TFG","TG","TGFB1","THRA","TIA1","TIMM8A","TIMMDC1","TK2","TMEM270","TMEM43","TMTC3","TNFRSF1B","TNNT1","TNR","TNXB","TOE1","TOR1AIP1","TP53","TPI1","TPM2","TPM3","TPO","TRAF3IP2","TRAPPC11","TREM2","TRIM2","TRIM32","TRIP4","TRMU","TRPV4","TSHB","TSHR","TTC19","TTC8","TTN","TTPA","TUBA1A","TUBB2B","TWNK","TYMP","UBA1","UBAP1","UBE3A","UBQLN2","UNC13A","UNC45B","USF3","USP48","USP8","VAMP1","VAPB","VCP","VLDLR","VMA21","VPS13A","VPS13D","VPS33A","VPS37D","VRK1","VWA1","WARS1","WARS2","WASHC5","WDPCP","WDR81","WNK1","WNT5A","WRN","YARS1","YARS2","YY1","ZBTB20","ZBTB24","ZC4H2","ZEB2","ZFP57","ZFYVE26"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HAND_MUSCLE_WEAKNESS":{"collection":"C5:HPO","systematicName":"M38351","pmid":"","exactSource":"HP:0030237","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030237","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HAND_MUSCLE_WEAKNESS","geneSymbols":["AGRN","AK9","BICD2","BSCL2","CADM3","CAV3","CHRNA1","CHRNB1","CHRND","CHRNE","COL13A1","COLQ","DCTN1","DOK7","DYSF","FLNC","GARS1","GDAP1","GJB1","GNE","GYG1","HARS1","HINT1","HSPB3","LAMB2","LDB3","LMNA","LRP4","MARS1","MATR3","MFN2","MORC2","MUSK","MYH7","NEB","NEFL","PDK3","PMP22","PNPLA2","POLG","RAPSN","REEP1","SBF2","SCN4A","SQSTM1","TIA1","TK2","TTN","YARS1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PORTAL_VEIN_THROMBOSIS":{"collection":"C5:HPO","systematicName":"M38352","pmid":"","exactSource":"HP:0030242","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030242","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PORTAL_VEIN_THROMBOSIS","geneSymbols":["CTNNB1","JAK2","KCNN4","MET","MPL","NOTCH1","PIEZO1","PIGM","SERPINC1","SLC4A1","TET2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SPLANCHNIC_VEIN_THROMBOSIS":{"collection":"C5:HPO","systematicName":"M38353","pmid":"","exactSource":"HP:0030247","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030247","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPLANCHNIC_VEIN_THROMBOSIS","geneSymbols":["CASR","CD55","CFTR","CPA1","CTNNB1","CTRC","EPAS1","JAK2","KCNN4","MET","MPL","NOTCH1","PIEZO1","PIGA","PIGM","PRSS1","PRSS2","SERPINC1","SLC4A1","SPINK1","TET2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABSENT_CIRCULATING_B_CELLS":{"collection":"C5:HPO","systematicName":"M46272","pmid":"","exactSource":"HP:0030252","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030252","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_CIRCULATING_B_CELLS","geneSymbols":["BTK","CD79A","FNIP1","IGLL1","SLC39A7","SPI1","TNFRSF9"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DEFECTIVE_T_CELL_PROLIFERATION":{"collection":"C5:HPO","systematicName":"M41502","pmid":"","exactSource":"HP:0030253","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030253","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEFECTIVE_T_CELL_PROLIFERATION","geneSymbols":["CD3E","CTPS1","LIG1","MRTFA","RASGRP1","TGFB1","WIPF1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LARGE_INTESTINAL_POLYPOSIS":{"collection":"C5:HPO","systematicName":"M38354","pmid":"","exactSource":"HP:0030255","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030255","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LARGE_INTESTINAL_POLYPOSIS","geneSymbols":["AKT1","APC","AXIN2","BMPR1A","CDKN2A","CHEK2","DICER1","ENG","EPCAM","FLCN","GREM1","KEAP1","KLLN","MBD4","MDM2","MLH1","MSH3","MUTYH","NTHL1","PIK3CA","PMS2","POLD1","POLE","PTEN","RNF43","SDHB","SDHC","SDHD","SEC23B","SMAD4","TP53","USF3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SMALL_INTESTINAL_POLYPOSIS":{"collection":"C5:HPO","systematicName":"M47245","pmid":"","exactSource":"HP:0030256","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030256","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SMALL_INTESTINAL_POLYPOSIS","geneSymbols":["APC","BMPR1A","ENG","MSH3","SMAD4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MICROPHALLUS":{"collection":"C5:HPO","systematicName":"M38355","pmid":"","exactSource":"HP:0030260","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030260","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MICROPHALLUS","geneSymbols":["CDKN1C","CILK1","FANCF","GATA4","HMGA2","HSD3B2","IGF2","MINPP1","OPHN1","PLAG1","RTTN","SAMD9","SIN3A","TACR3","THOC2","TOE1","TRRAP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPERPLASTIC_CALLUS_FORMATION":{"collection":"C5:HPO","systematicName":"M41503","pmid":"","exactSource":"HP:0030268","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030268","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERPLASTIC_CALLUS_FORMATION","geneSymbols":["IFITM5","KRT16","KRT17","KRT6A","KRT6B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INCREASED_CIRCULATING_INSULIN_LIKE_GROWTH_FACTOR_1_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M45473","pmid":"","exactSource":"HP:0030269","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030269","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_CIRCULATING_INSULIN_LIKE_GROWTH_FACTOR_1_CONCENTRATION","geneSymbols":["AIP","GPR101","IGF1R","MEN1","PDE11A","PRKAR1A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ELEVATED_RED_CELL_ADENOSINE_DEAMINASE_LEVEL":{"collection":"C5:HPO","systematicName":"M46273","pmid":"","exactSource":"HP:0030270","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030270","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELEVATED_RED_CELL_ADENOSINE_DEAMINASE_LEVEL","geneSymbols":["ADA2","GATA1","HEATR3","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS7","TSR2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_ERYTHROCYTE_ENZYME_LEVEL":{"collection":"C5:HPO","systematicName":"M38356","pmid":"","exactSource":"HP:0030272","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030272","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ERYTHROCYTE_ENZYME_LEVEL","geneSymbols":["ADA","ADA2","ALAD","GALT","GATA1","HEATR3","KHK","PHKA2","PHKG2","PIGA","PKLR","PRPS1","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS7","TSR2","VPS13A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FLATTENED_FEMORAL_EPIPHYSIS":{"collection":"C5:HPO","systematicName":"M43475","pmid":"","exactSource":"HP:0030289","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030289","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FLATTENED_FEMORAL_EPIPHYSIS","geneSymbols":["ACAN","CCN6","COL2A1","COL9A1","GNPTG","KIF22","SLC26A2","SLC39A13","TBX4","TONSL","TRPS1","TRPV4","UFSP2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LOWER_LIMB_METAPHYSEAL_IRREGULARITY":{"collection":"C5:HPO","systematicName":"M38357","pmid":"","exactSource":"HP:0030291","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030291","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOWER_LIMB_METAPHYSEAL_IRREGULARITY","geneSymbols":["CFAP410","COL10A1","CSPP1","DNAJC21","KIAA0586","RPL13","RSPRY1","SBDS","SRP54","TRPV4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DISTAL_FEMORAL_METAPHYSEAL_ABNORMALITY":{"collection":"C5:HPO","systematicName":"M47246","pmid":"","exactSource":"HP:0030299","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030299","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DISTAL_FEMORAL_METAPHYSEAL_ABNORMALITY","geneSymbols":["BMP1","COL10A1","EZH2","PAM16","SETBP1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_ANTERIOR_COMMISSURE":{"collection":"C5:HPO","systematicName":"M46274","pmid":"","exactSource":"HP:0030301","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030301","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_ANTERIOR_COMMISSURE","geneSymbols":["CEP85L","DCC","MACF1","RERE","TUBB3","ZEB2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FLARED_LOWER_LIMB_METAPHYSIS":{"collection":"C5:HPO","systematicName":"M46275","pmid":"","exactSource":"HP:0030307","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030307","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FLARED_LOWER_LIMB_METAPHYSIS","geneSymbols":["COL11A2","COMP","EZH2","POLR1A","TRPV4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_UPPER_EXTREMITY_JOINT_DISLOCATION":{"collection":"C5:HPO","systematicName":"M38358","pmid":"","exactSource":"HP:0030310","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030310","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UPPER_EXTREMITY_JOINT_DISLOCATION","geneSymbols":["AEBP1","AFF3","APC","ARF1","ARFGEF2","ARID1B","ASXL1","ATR","B3GALT6","B3GAT3","B4GALT7","BMP1","BRD4","CANT1","CD96","CDC45","CDC6","CDT1","CHRNG","CHST3","CLCN3","COL1A1","COL1A2","COL27A1","COL5A1","COL5A2","CREBBP","CSGALNACT1","DONSON","DVL1","DVL3","EP300","ERCC1","ERMARD","EXOC6B","EXTL3","FBN1","FLNA","FLNB","FZD2","GDF5","GMNN","GPC6","GSC","HDAC8","HNRNPH1","HSPG2","IFITM5","KIF22","L1CAM","LMNA","LMX1B","LRP4","MACROH2A1","MAFB","MAP1B","MAP3K7","NEDD4L","NGLY1","NIPBL","NOG","NOTCH2","NXN","ORC1","ORC4","ORC6","PITX1","PRKAR1A","RAD21","RNU4ATAC","ROR2","SALL4","SCARF2","SHOX","SKI","SLC26A2","SLC35B2","SLC39A13","SMC1A","SMC3","SMOC1","SOX9","SRCAP","TBX15","TMTC3","WNT5A","XYLT1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LOWER_EXTREMITY_JOINT_DISLOCATION":{"collection":"C5:HPO","systematicName":"M38359","pmid":"","exactSource":"HP:0030311","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030311","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOWER_EXTREMITY_JOINT_DISLOCATION","geneSymbols":["AARS1","ABCC9","ACTA1","ADAMTS2","ADAMTSL2","AEBP1","AFF3","AGRN","AKT1","ALDH18A1","ALG9","APC","ARF1","ARFGEF2","ARNT2","ARVCF","ATAD1","ATP6V0A2","ATP6V1A","ATP6V1E1","ATP7A","ATR","B3GALT6","B3GAT3","BAZ1B","BCL7B","BICD2","BPNT2","BRCA1","BRCA2","BRD4","BRIP1","BUD23","C12orf57","CANT1","CCDC47","CCDC8","CD96","CDON","CEP85L","CFL2","CHAT","CHRM3","CHRNG","CHST11","CHST3","CLCN3","CLIP2","CLTCL1","COL12A1","COL13A1","COL1A1","COL1A2","COL25A1","COL27A1","COL2A1","COL3A1","COL5A1","COL5A2","COL6A1","COL6A2","COL6A3","COLEC10","COLEC11","COMT","COX8A","CPLX1","CREBBP","CSGALNACT1","CTBP1","CUL7","DHCR7","DHODH","DISP1","DLL1","DNAJC21","DNAJC30","DPYSL5","DSTYK","DVL1","DVL3","EBP","ECEL1","EFEMP2","EIF2AK3","EIF4A3","EIF4H","ELN","EP300","ERCC1","ERCC4","ERGIC1","ERMARD","EXOC6B","EXOSC3","EYA1","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FBLN1","FBLN5","FBN2","FGF8","FGFR1","FGFRL1","FHL1","FIG4","FKBP6","FKRP","FLI1","FLNA","FLNB","FOXH1","FUT8","FZD2","GAS1","GDF5","GEMIN4","GJA1","GLI2","GLI3","GLRA1","GLRB","GMPPB","GNPTAB","GORAB","GP1BB","GPC3","GPC4","GPHN","GSC","GTF2I","GTF2IRD1","GTF2IRD2","HACD1","HACE1","HDAC4","HDAC8","HIRA","HK1","HNRNPH1","HOXA11","HPRT1","HSPG2","IARS2","IFIH1","IL6ST","INPP5K","IPO8","ITGA7","JMJD1C","KANSL1","KAT6B","KDM6A","KIF22","KLHL41","KMT2D","LARGE1","LETM1","LIMK1","LMNA","LMOD3","LMX1B","LONP1","LRP4","LTBP1","LYSET","MAB21L2","MACF1","MAD2L2","MAP1B","MAP3K20","MAP3K7","MASP1","MBTPS2","MCTP2","METTL27","MKKS","MLXIPL","MYH3","MYH8","MYL2","MYO9A","NAA10","NCF1","NEB","NEDD4L","NFIX","NGLY1","NIPBL","NKX3-2","NODAL","NOTCH2","NSD2","NSDHL","OBSL1","OCRL","OSGEP","PAFAH1B1","PALB2","PIEZO2","PIGL","PKDCC","PLCH1","PLOD1","POLR3B","POMT1","POMT2","PORCN","PPP2R5D","PRKACB","PTCH1","PTEN","PTRH2","PUF60","PYCR1","PYCR2","RAD21","RAD51","RAD51C","RBM8A","RECQL4","RFC2","RFWD3","RNU4ATAC","RREB1","RUNX2","RYR1","RYR3","SCYL2","SEC24C","SEC31A","SELENON","SF3B4","SHH","SHROOM4","SIL1","SIX1","SIX3","SLC10A7","SLC12A2","SLC18A3","SLC25A1","SLC26A2","SLC2A10","SLC35A3","SLC35B2","SLC5A7","SLC6A5","SLC6A9","SLX4","SMC1A","SMC3","SMO","SMOC1","SNAP25","SNRPB","SOX9","SPARC","STAG2","STIL","STX1A","STXBP1","SYNE1","SYT2","TBCD","TBL2","TBX1","TBX15","TBX4","TDGF1","TELO2","TFE3","TGIF1","THRA","TMEM270","TMTC3","TNNT3","TONSL","TOR1A","TPM2","TPM3","TRIM8","TTC26","UBA2","UBE2A","UBE2T","UBE3B","UFD1","USP9X","VAC14","VAMP1","VPS37D","WNT5A","WNT7A","XRCC2","XYLT1","YWHAE","YY1","ZC4H2","ZIC2","ZIC3","ZMPSTE24","ZNF469"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_PERIOSTEUM_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M41506","pmid":"","exactSource":"HP:0030313","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030313","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PERIOSTEUM_MORPHOLOGY","geneSymbols":["COL1A1","FAM20C","FGFR2","GALNT3","IL1RN","KL","SLCO2A1","TRPV6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ANGULAR_CHEILITIS":{"collection":"C5:HPO","systematicName":"M41507","pmid":"","exactSource":"HP:0030318","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030318","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANGULAR_CHEILITIS","geneSymbols":["AMN","CAST","CUBN","DSC3","GJB2","GJB6","KRT16","KRT17","KRT6A","KRT6B","SREBF1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_WEAKNESS_OF_FACIAL_MUSCULATURE":{"collection":"C5:HPO","systematicName":"M38360","pmid":"","exactSource":"HP:0030319","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030319","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WEAKNESS_OF_FACIAL_MUSCULATURE","geneSymbols":["ABCA1","ACADS","ACTA1","ACTN2","ADA2","ADCY6","ADGRG1","ADNP","ADSS1","AGRN","AK9","AKT1","ALG14","ALG2","AMER1","ANKH","ANO5","ANTXR1","ANXA11","ASAH1","ATP1A2","BAG3","BAP1","BICRA","BIN1","BMS1","BTNL2","CACNA1A","CADM3","CAPN3","CFL2","CHAT","CHCHD10","CHD7","CHKB","CHRNA1","CHRNB1","CHRND","CHRNE","CHRNG","CLCF1","CLCN7","CNBP","CNTNAP1","COL12A1","COL13A1","COL25A1","COL4A1","COL6A1","COL6A2","COL6A3","COLQ","COX6A2","CRLF1","CRPPA","CRYAB","DBH","DCTN1","DES","DLL4","DMPK","DNAJB6","DNM1L","DNM2","DNMT3B","DOK7","DPAGT1","EBF3","EYA1","FKRP","FKTN","FLNC","FRG1","GAN","GDAP1","GFPT1","GIPC1","GJA1","GJC2","GLE1","GMPPB","GNE","GSN","HACD1","HK1","HLA-DRB1","HOXB1","IRF2BPL","ITGA7","ITGB4","JAG2","KBTBD13","KIF1B","KLHL40","KLHL41","KMT2D","KY","LAMA2","LAMB2","LARGE1","LMOD3","LRIF1","LRP12","LRP4","LRP5","MAP3K20","MB","MEGF10","MGME1","MPZ","MSTO1","MT-TE","MT-TN","MT-TS1","MTM1","MTMR14","MTMR2","MTRFR","MUSK","MYH7","MYL1","MYL2","MYMK","MYMX","MYO9A","MYPN","NARS2","NEB","NEFL","NF2","NFU1","NOD2","NOTCH2NLC","NUTM2B-AS1","OPA1","OSTM1","PABPN1","PDGFB","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PI4KA","PIK3CA","PLEC","PLXND1","POLG","POLG2","POMT1","POMT2","PRRT2","PTDSS1","PTRH2","PUF60","RAPSN","REV3L","RILPL1","RNASEH1","RRM2B","RYR1","RYR3","SALL4","SBF2","SCN1A","SCN4A","SCO2","SELENON","SEMA3E","SGCD","SH3TC2","SHMT2","SIX1","SIX5","SLC12A6","SLC18A3","SLC19A3","SLC25A1","SLC25A21","SLC25A4","SLC25A42","SLC39A14","SLC52A2","SLC52A3","SLC5A7","SMARCB1","SMARCE1","SMCHD1","SMO","SNAP25","SNX10","SOST","SPEG","SPTBN4","SQSTM1","SRPX2","STAC3","STAG2","SUCLA2","SUFU","SUPT16H","SURF1","SYNE1","SYT2","TCIRG1","TERT","TFAP2A","TGFB1","TK2","TNFSF11","TNNC2","TNNT1","TOR1A","TPM2","TPM3","TRAF7","TREX1","TRIM32","TRPV4","TTN","TUBB3","TUBB6","TWNK","UBA1","UBA2","UBE2T","VAMP1","VCP","XRCC2","YARS1","YME1L1","ZC4H2","ZFHX4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INCREASED_INTERVERTEBRAL_SPACE":{"collection":"C5:HPO","systematicName":"M43476","pmid":"","exactSource":"HP:0030320","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030320","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_INTERVERTEBRAL_SPACE","geneSymbols":["ACP5","EXTL3","PLCB3","SLC26A2","TMEM53","TRPV4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RETINAL_THINNING":{"collection":"C5:HPO","systematicName":"M38361","pmid":"","exactSource":"HP:0030329","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030329","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETINAL_THINNING","geneSymbols":["ABCA4","ALDH3A2","CABP4","CACNA1F","CACNA2D4","CFAP418","CNGA3","CNGB3","COL2A1","CYP4V2","ELOVL4","GNAT1","GNB3","GPR179","GRK1","GRM6","HLA-A","KIF3B","LAMA1","LRIT3","NYX","PCYT1A","PDE6B","POMGNT1","PROM1","PRPH2","RHO","RIMS2","SAG","SLC24A1","SLC6A6","TRPM1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CIRCULATING_GONADOTROPIN_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M38362","pmid":"","exactSource":"HP:0030338","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030338","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_GONADOTROPIN_CONCENTRATION","geneSymbols":["AKT1","ANOS1","AR","BAP1","BMP15","BMPR1B","BNC1","C14orf39","CATIP","CBX2","CCDC34","CDH23","CFTR","CLPP","CNBP","CPE","CT55","CYB5A","CYP11A1","CYP17A1","DHH","DHX37","DIAPH2","DMRT3","DMXL2","DNAH10","DNHD1","ERCC6","ESR1","ESR2","FAM111A","FANCM","FBXO43","FEZF1","FGD1","FIGLA","FKBP6","FMR1","FOXL2","FSHB","FSHR","GATA4","GCNA","GDF9","GNRH1","HESX1","HFM1","HSD17B4","KISS1","KISS1R","KLHL10","LARS2","LGR4","LHB","LHCGR","LHX3","LHX4","MAGEL2","MAP3K1","MCM8","MCM9","MEIOB","MOV10L1","MRPS22","MSH4","MSH5","NANOS1","NDN","NF2","NHLH2","NR0B1","NR5A1","NSMCE2","NUP107","OCA2","OTX2","PDGFB","PDHA2","PIK3CA","PNLDC1","PNPLA6","POLA1","POLR3H","POR","POU1F1","PPP2R3C","PRDM13","PROP1","PSMC3IP","RNF212","ROBO1","RPL10L","SEMA3A","SHOC1","SMARCB1","SMARCE1","SMO","SNRPN","SOHLH1","SOX9","SPAG17","SPIDR","SRY","STAG3","SUFU","SYCE1","SYCP3","TAC3","TAF4B","TDRD9","TERB1","TERB2","TERT","TEX11","TEX14","TEX15","TP63","TRAF7","VAMP7","WT1","WWOX","XRCC2","ZFPM2","ZMYND15","ZSWIM7"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DECREASED_CIRCULATING_GONADOTROPIN_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M38363","pmid":"","exactSource":"HP:0030339","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030339","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_CIRCULATING_GONADOTROPIN_CONCENTRATION","geneSymbols":["AKT1","ANOS1","BAP1","CPE","DMXL2","FEZF1","FSHB","GNRH1","HESX1","KISS1","KISS1R","LGR4","LHB","LHX3","LHX4","MAGEL2","NDN","NF2","NHLH2","OCA2","OTX2","PDGFB","PIK3CA","PNPLA6","POU1F1","PRDM13","PROP1","ROBO1","SEMA3A","SMARCB1","SMARCE1","SMO","SNRPN","SUFU","TAC3","TERT","TRAF7"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DECREASED_CIRCULATING_FOLLICLE_STIMULATING_HORMONE_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M43477","pmid":"","exactSource":"HP:0030341","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030341","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_CIRCULATING_FOLLICLE_STIMULATING_HORMONE_CONCENTRATION","geneSymbols":["AKT1","ANOS1","BAP1","CPE","DMXL2","FEZF1","FSHB","HESX1","KISS1","KISS1R","LGR4","LHX3","LHX4","NF2","NHLH2","OTX2","PDGFB","PIK3CA","POU1F1","PRDM13","PROP1","ROBO1","SEMA3A","SMARCB1","SMARCE1","SMO","SUFU","TAC3","TERT","TRAF7"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CIRCULATING_FOLLICLE_STIMULATING_HORMONE_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M38365","pmid":"","exactSource":"HP:0030346","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030346","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_FOLLICLE_STIMULATING_HORMONE_CONCENTRATION","geneSymbols":["AKT1","ANOS1","AR","BAP1","BMPR1B","BNC1","C14orf39","CBX2","CLPP","CNBP","CPE","CYB5A","CYP11A1","CYP17A1","DHX37","DIAPH2","DMRT3","DMXL2","ERCC6","ESR2","FAM111A","FANCM","FEZF1","FGD1","FIGLA","FKBP6","FOXL2","FSHB","GATA4","GCNA","GDF9","HESX1","HFM1","KISS1","KISS1R","LGR4","LHB","LHX3","LHX4","MAP3K1","MCM8","MCM9","MRPS22","MSH4","MSH5","NF2","NHLH2","NR0B1","NR5A1","NSMCE2","OTX2","PDGFB","PIK3CA","POR","POU1F1","PPP2R3C","PRDM13","PROP1","PSMC3IP","ROBO1","SEMA3A","SHOC1","SMARCB1","SMARCE1","SMO","SOHLH1","SOX9","SPIDR","SRY","STAG3","SUFU","SYCE1","TAC3","TERT","TP63","TRAF7","VAMP7","WT1","WWOX","XRCC2","ZFPM2","ZMYND15","ZSWIM7"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CIRCULATING_ANDROGEN_LEVEL":{"collection":"C5:HPO","systematicName":"M38366","pmid":"","exactSource":"HP:0030347","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030347","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_ANDROGEN_LEVEL","geneSymbols":["AKT1","ALG6","ALMS1","ANOS1","AR","B4GALNT1","BAP1","BMP6","CDKN2A","CEP112","CHD7","CLN3","CPE","CTNNB1","CYB5A","CYP11A1","CYP11B1","CYP17A1","DCAF17","DHH","DHX37","DMRT3","DMXL2","DUSP6","ESR1","FANCM","FEZF1","FGD1","FGF17","FGF8","FGFR1","FKBP6","FSHB","FSHR","GATA4","GCNA","GNAS","GNRH1","GNRHR","HFE","HS6ST1","HSD3B2","INSR","KISS1","KISS1R","LEP","LEPR","LGR4","LHB","MAP3K1","MC2R","MRAP","MSH4","NDNF","NF2","NFKB2","NHLH2","NNT","NR0B1","NR2F2","NR3C1","NR5A1","NSMF","PDGFB","PIK3CA","POLA1","POLR3A","POR","PRKAR1A","PROK2","PROKR2","RBM28","SEMA3A","SLC39A4","SMARCB1","SMARCE1","SMO","SOX9","SPRY4","SRY","STAR","SUFU","SYCE1","TAC3","TACR3","TAF4B","TERT","TP53","TRAF7","TXNRD2","VAMP7","WDR11","WNT4","WT1","WWOX","ZFPM2","ZMYND15","ZNRF3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INCREASED_CIRCULATING_ANDROGEN_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M38367","pmid":"","exactSource":"HP:0030348","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030348","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_CIRCULATING_ANDROGEN_CONCENTRATION","geneSymbols":["ALG6","ALMS1","AR","CDKN2A","CLN3","CTNNB1","CYP11B1","FSHR","GNAS","HSD3B2","INSR","NR2F2","NR3C1","POLR3A","PRKAR1A","TERT","TP53","WNT4","ZNRF3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DECREASED_CIRCULATING_ANDROGEN_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M41508","pmid":"","exactSource":"HP:0030349","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030349","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_CIRCULATING_ANDROGEN_CONCENTRATION","geneSymbols":["AKT1","ANOS1","B4GALNT1","BAP1","BMP6","CHD7","CPE","CYB5A","CYP11A1","CYP17A1","DCAF17","DHH","DHX37","DMRT3","DMXL2","DUSP6","FANCM","FEZF1","FGD1","FGF17","FGF8","FGFR1","FSHB","GATA4","GCNA","GNRH1","GNRHR","HFE","HS6ST1","HSD3B2","KISS1","KISS1R","LEP","LEPR","LGR4","LHB","MAP3K1","NDNF","NF2","NFKB2","NHLH2","NR0B1","NR5A1","NSMF","PDGFB","PIK3CA","POLA1","POR","PROK2","PROKR2","RBM28","SEMA3A","SLC39A4","SMARCB1","SMARCE1","SMO","SOX9","SPRY4","SRY","SUFU","TAC3","TACR3","TERT","TRAF7","VAMP7","WDR11","WT1","WWOX","ZFPM2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ERYTHEMATOUS_PAPULE":{"collection":"C5:HPO","systematicName":"M43478","pmid":"","exactSource":"HP:0030350","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030350","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ERYTHEMATOUS_PAPULE","geneSymbols":["COL7A1","DCLRE1C","HAVCR2","KIT","KRT14","KRT5","MEFV","POFUT1","POGLUT1","PSENEN","XPA"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_SERUM_INSULIN_LIKE_GROWTH_FACTOR_1_LEVEL":{"collection":"C5:HPO","systematicName":"M38368","pmid":"","exactSource":"HP:0030352","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030352","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SERUM_INSULIN_LIKE_GROWTH_FACTOR_1_LEVEL","geneSymbols":["ADAT3","AIP","ALG12","CTSK","DCAF17","GALT","GH1","GHR","GHRHR","GHSR","GPR101","IGF1","IGF1R","IGFALS","KIAA0753","MCTP2","MED12","MEN1","MPDU1","NFKB2","PDE11A","PGM1","PRKAR1A","RBM28","ROBO1","SIK3","SMPD1","SOX3","STAT5B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DECREASED_SERUM_INSULIN_LIKE_GROWTH_FACTOR_1":{"collection":"C5:HPO","systematicName":"M38369","pmid":"","exactSource":"HP:0030353","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030353","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_SERUM_INSULIN_LIKE_GROWTH_FACTOR_1","geneSymbols":["ADAT3","ALG12","CTSK","DCAF17","GALT","GH1","GHR","GHRHR","GHSR","IGF1","IGFALS","KIAA0753","MCTP2","MED12","MPDU1","NFKB2","PGM1","RBM28","ROBO1","SIK3","SMPD1","SOX3","STAT5B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CIRCULATING_INTERFERON_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M38370","pmid":"","exactSource":"HP:0030354","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030354","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_INTERFERON_CONCENTRATION","geneSymbols":["ADAR","ANKRD55","CD247","IFIH1","IL2RA","IL2RB","LSM11","POLA1","PRF1","PSMB8","PTPN2","PTPN22","RNASEH2A","RNASEH2B","RNASEH2C","RNU7-1","SAMHD1","SP110","STAT1","STAT4","STX11","STXBP2","TOM1","TREX1","UNC13D"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INCREASED_CIRCULATING_INTERFERON_GAMMA_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M46276","pmid":"","exactSource":"HP:0030356","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030356","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_CIRCULATING_INTERFERON_GAMMA_CONCENTRATION","geneSymbols":["ADAR","ANKRD55","CD247","IFIH1","IL2RA","IL2RB","LSM11","PRF1","PSMB8","PTPN2","PTPN22","RNASEH2A","RNASEH2B","RNASEH2C","RNU7-1","SAMHD1","STAT4","STX11","STXBP2","TREX1","UNC13D"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NON_SMALL_CELL_LUNG_CARCINOMA":{"collection":"C5:HPO","systematicName":"M45474","pmid":"","exactSource":"HP:0030358","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030358","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NON_SMALL_CELL_LUNG_CARCINOMA","geneSymbols":["BAP1","BRAF","CASP8","CDKN2A","CTNNB1","CYP2A6","EGFR","ERBB2","ERCC6","FASLG","IRF1","KRAS","MAP3K8","NDUFAF6","PIK3CA","PPP2R1B","PRKAR1A","PRKN","SLC22A18","SPRED1","TERT","TP53","ZNRF3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DECREASED_PROPORTION_OF_CLASS_SWITCHED_MEMORY_B_CELLS":{"collection":"C5:HPO","systematicName":"M47247","pmid":"","exactSource":"HP:0030388","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030388","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_PROPORTION_OF_CLASS_SWITCHED_MEMORY_B_CELLS","geneSymbols":["CD19","CTNNBL1","FNIP1","HYOU1","ICOS","IL21","IL6R","IRF2BP2","LCP2","LRBA","PIK3CD","PLCG2","PRKCD","REL","SOCS1","TET2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SPOKEN_WORD_RECOGNITION_DEFICIT":{"collection":"C5:HPO","systematicName":"M41510","pmid":"","exactSource":"HP:0030391","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030391","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPOKEN_WORD_RECOGNITION_DEFICIT","geneSymbols":["CHMP2B","GRIN2A","GRN","HSD17B10","MAPT","PSEN1","TMEM106B","TREM2","VCP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CHOROID_PLEXUS_CARCINOMA":{"collection":"C5:HPO","systematicName":"M41511","pmid":"","exactSource":"HP:0030392","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030392","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHOROID_PLEXUS_CARCINOMA","geneSymbols":["CDKN2A","CHEK2","MDM2","SMARCB1","TP53"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_GLUCAGONOMA":{"collection":"C5:HPO","systematicName":"M38372","pmid":"","exactSource":"HP:0030404","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030404","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GLUCAGONOMA","geneSymbols":["CDKN1A","CDKN1B","CDKN2B","CDKN2C","GCGR","MEN1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PANCREATIC_ENDOCRINE_TUMOR":{"collection":"C5:HPO","systematicName":"M38373","pmid":"","exactSource":"HP:0030405","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030405","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PANCREATIC_ENDOCRINE_TUMOR","geneSymbols":["CCND1","CDKN1A","CDKN1B","CDKN2B","CDKN2C","GCGR","IFNG","KCNJ11","MAFA","MEN1","TSC1","TSC2","VHL"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PRIMARY_PERITONEAL_CARCINOMA":{"collection":"C5:HPO","systematicName":"M38374","pmid":"","exactSource":"HP:0030406","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030406","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PRIMARY_PERITONEAL_CARCINOMA","geneSymbols":["BARD1","BRCA1","BRCA2","BRIP1","CHEK2","MRE11","NBN","PALB2","PTEN","RAD50","RAD51","RAD51C","RAD51D","TP53"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NEUROMA":{"collection":"C5:HPO","systematicName":"M41512","pmid":"","exactSource":"HP:0030430","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030430","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEUROMA","geneSymbols":["CCM2","KRIT1","NF1","NF2","PDCD10","PIK3CA"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_OSTEOCHONDROMA":{"collection":"C5:HPO","systematicName":"M43479","pmid":"","exactSource":"HP:0030431","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030431","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OSTEOCHONDROMA","geneSymbols":["COL2A1","EXT1","EXT2","FGFR3","GLI3","NFATC2","SOX6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PILOMATRIXOMA":{"collection":"C5:HPO","systematicName":"M41513","pmid":"","exactSource":"HP:0030434","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030434","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PILOMATRIXOMA","geneSymbols":["APC","CREBBP","CTNNB1","DICER1","EP300","KEAP1","MAD1L1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PULMONARY_CARCINOID_TUMOR":{"collection":"C5:HPO","systematicName":"M38375","pmid":"","exactSource":"HP:0030445","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030445","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PULMONARY_CARCINOID_TUMOR","geneSymbols":["ATRX","CDKN1A","CDKN1B","CDKN2B","CDKN2C","DAXX","LMNA","MEN1","SDHD"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SOFT_TISSUE_SARCOMA":{"collection":"C5:HPO","systematicName":"M38376","pmid":"","exactSource":"HP:0030448","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030448","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SOFT_TISSUE_SARCOMA","geneSymbols":["ABCA5","AKT1","ANGPT2","ANTXR2","APC","ASPSCR1","ATP6V1B2","AURKA","AXIN2","BAP1","BAX","BMPR1A","BRAF","BUB1","BUB1B","BUB3","CASP10","CCND1","CDC73","CDKN1A","CDKN1B","CDKN2A","CDKN2B","CDKN2C","CEP57","CHEK2","COL1A1","COL4A5","COL4A6","CTNNB1","DCC","DHCR24","DICER1","DLC1","ELMO2","EP300","EPHB4","FAM20A","FAM20C","FAS","FASLG","FGFR3","FH","FLCN","FLNA","FLT4","FOXC2","FOXO1","GJC2","GREM1","HRAS","IFNG","IL6ST","KCNH1","KCNMA1","KCNN3","KEAP1","KIT","KLLN","KRAS","KRT17","LRP1","MAD1L1","MAP2K1","MC1R","MCC","MDM2","MEN1","MLH1","MLH3","MSH2","MSH6","MTAP","MUTYH","NBN","NF1","NF2","NOTCH3","NRAS","PAX3","PAX7","PDE11A","PDGFB","PDGFRB","PDGFRL","PIEZO1","PIK3CA","PLA2G2A","PLCD1","PRKAR1A","PRKCD","PRLR","PTCH1","PTEN","PTPN11","PTPN12","PTPRJ","RAD54B","RASGRP1","REST","RSPRY1","SDHB","SDHC","SDHD","SEC23B","SLC22A18","SMARCB1","SMARCE1","SMO","SOS1","SPRED1","SPTBN1","SRC","SSX2","SUFU","TERT","TLR2","TP53","TRAF7","TRIP13","TSC1","TSC2","USF3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NEOPLASM_OF_THE_AUTONOMIC_NERVOUS_SYSTEM":{"collection":"C5:HPO","systematicName":"M47248","pmid":"","exactSource":"HP:0030450","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030450","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_AUTONOMIC_NERVOUS_SYSTEM","geneSymbols":["ASCL1","BDNF","EDN3","GDNF","KIF1B","LBX1","MYO1H","PHOX2B","RET"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_VISUAL_ELECTROPHYSIOLOGY":{"collection":"C5:HPO","systematicName":"M38377","pmid":"","exactSource":"HP:0030453","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030453","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_VISUAL_ELECTROPHYSIOLOGY","geneSymbols":["AAAS","ABCA4","ACOX1","ADAR","ADGRV1","AGBL5","AGK","AHI1","AHR","AIPL1","ALG3","ARHGEF18","ARHGEF2","ARL2BP","ARL3","ARL6","ARSA","ARSG","ATF6","ATP1A3","ATXN1","ATXN3","BBIP1","BBS1","BBS10","BBS12","BBS2","BBS4","BBS5","BBS7","BBS9","BEST1","CA4","CABP4","CACNA1F","CACNA2D4","CAPN5","CC2D2A","CDH23","CDHR1","CEP104","CEP19","CEP290","CEP78","CERKL","CFAP418","CHM","CIB2","CLCC1","CLCN7","CLN3","CLN5","CLN8","CLRN1","CNGA1","CNGA3","CNGB1","CNGB3","COL25A1","COX6B1","CRB1","CRX","CWC27","CYP27A1","CYP4V2","DHDDS","DHX38","DNM1L","ELOVL4","EMC1","ERCC6","ERCC8","ESPN","EYS","FAM161A","FLVCR1","FSCN2","FXN","GALC","GDF6","GJC2","GNAT1","GNAT2","GNB3","GNB5","GPR179","GRK1","GRM6","GUCA1A","GUCA1B","GUCY2D","HADHA","HARS1","HGSNAT","HSD17B4","IDH3A","IDH3B","IDS","IFT140","IFT172","IFT27","IFT74","IFT88","IMPDH1","IMPG1","IMPG2","IQCB1","KCNJ13","KIAA1549","KIF21A","KIF3B","KIZ","KLHL7","LAMA2","LARGE1","LCA5","LRAT","LRIT3","LRTOMT","LZTFL1","MAK","MCOLN1","MECR","MERTK","MFF","MFN2","MFRP","MKKS","MKS1","MOGS","MPDU1","MT-ATP6","MT-TS2","MYO7A","NDRG1","NDUFS4","NEK2","NMNAT1","NOTCH3","NPHP1","NR2E3","NRL","NUP54","NUP62","NYX","OFD1","OPA1","OPN1LW","OPN1MW","OPN1SW","OSTM1","PCARE","PCDH15","PCYT1A","PDE6A","PDE6B","PDE6C","PDE6D","PDE6G","PDE6H","PDZD7","PEX1","PEX12","PHOX2A","PIEZO2","PLA2G6","PNPLA6","POGZ","POLG","POMGNT1","PPT1","PRCD","PROM1","PRPF3","PRPF31","PRPF4","PRPF6","PRPF8","PRPH2","PRPS1","PSAP","RAB18","RAB3GAP1","RAB3GAP2","RBP3","RD3","RDH11","RDH12","RDH5","REEP6","RGR","RHO","RLBP1","RNF216","ROM1","RP1","RP1L1","RP2","RP9","RPE65","RPGR","RPGRIP1","RS1","SAG","SCAPER","SCLT1","SDCCAG8","SEMA4A","SLC24A1","SLC25A22","SLC25A4","SLC7A14","SNRNP200","SNX10","SPATA7","SPG11","SSBP1","SUCLA2","TBC1D20","TCIRG1","TIMM8A","TIMP3","TKFC","TLCD3B","TNFSF11","TOPORS","TPP1","TRIM32","TRPM1","TTC8","TTLL5","TTPA","TUB","TUBA1A","TUBB2B","TUBB3","TUBB4B","TULP1","TYR","UCHL1","USH1C","USH1G","USH2A","USP45","VSX1","WDPCP","WHRN","WWOX","ZNF408","ZNF513","ZNF699","ZNHIT3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_PATTERN_VISUAL_EVOKED_POTENTIALS":{"collection":"C5:HPO","systematicName":"M47249","pmid":"","exactSource":"HP:0030455","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030455","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_PATTERN_VISUAL_EVOKED_POTENTIALS","geneSymbols":["CLN8","CWC27","DNM1L","OPA1","SPG11"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_UNDETECTABLE_LIGHT_ADAPTED_ELECTRORETINOGRAM":{"collection":"C5:HPO","systematicName":"M46277","pmid":"","exactSource":"HP:0030465","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030465","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UNDETECTABLE_LIGHT_ADAPTED_ELECTRORETINOGRAM","geneSymbols":["ATF6","CNGA3","CNGB3","GNAT2","PDE6C","PDE6H","RPGR"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_FULL_FIELD_ELECTRORETINOGRAM":{"collection":"C5:HPO","systematicName":"M38378","pmid":"","exactSource":"HP:0030466","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030466","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FULL_FIELD_ELECTRORETINOGRAM","geneSymbols":["ABCA4","ACOX1","ADAR","AIPL1","ALG3","ATF6","BEST1","CABP4","CACNA1F","CACNA2D4","CERKL","CFAP418","CLRN1","CNGA3","CNGB3","CYP4V2","GNAT1","GNAT2","GNB3","GPR179","GRK1","GRM6","GUCY2D","IDH3B","IDS","IMPDH1","KIF3B","LARGE1","LRAT","LRIT3","MCOLN1","MFRP","MT-ATP6","NR2E3","NUP54","NUP62","NYX","OPN1SW","PCYT1A","PDE6B","PDE6C","PDE6H","PEX12","POMGNT1","PPT1","PROM1","PRPH2","RDH5","RGR","RHO","RLBP1","RP1","RP1L1","RP9","RPE65","RPGR","RPGRIP1","RS1","SAG","SLC24A1","TRPM1","TTC8","USP45","ZNF513"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_REDUCED_AMPLITUDE_OF_DARK_ADAPTED_BRIGHT_FLASH_ELECTRORETINOGRAM_A_WAVE":{"collection":"C5:HPO","systematicName":"M41515","pmid":"","exactSource":"HP:0030483","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030483","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_AMPLITUDE_OF_DARK_ADAPTED_BRIGHT_FLASH_ELECTRORETINOGRAM_A_WAVE","geneSymbols":["CABP4","CACNA1F","CACNA2D4","CFAP418","GNAT1","GNB3","GPR179","GRK1","GRM6","LRIT3","NYX","PDE6B","RHO","SAG","SLC24A1","TRPM1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_EXUDATIVE_VITREORETINOPATHY":{"collection":"C5:HPO","systematicName":"M46278","pmid":"","exactSource":"HP:0030490","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030490","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EXUDATIVE_VITREORETINOPATHY","geneSymbols":["BAP1","CTNNB1","FZD4","LRP5","NDP","TSPAN12","VCAN","ZNF408"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CHORIOCAPILLARIS_ATROPHY":{"collection":"C5:HPO","systematicName":"M38380","pmid":"","exactSource":"HP:0030491","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030491","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHORIOCAPILLARIS_ATROPHY","geneSymbols":["ACVRL1","CRB1","CYP4V2","GUCA1A","GUCY2D","PRPH2","TIMP3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_FOVEAL_PIGMENTATION":{"collection":"C5:HPO","systematicName":"M38381","pmid":"","exactSource":"HP:0030493","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030493","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_FOVEAL_PIGMENTATION","geneSymbols":["APOE","CFHR1","CFHR3","CTNNA1","HMCN1","IMPG1","RAB28","SLC38A8"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MACULAR_THICKENING":{"collection":"C5:HPO","systematicName":"M38382","pmid":"","exactSource":"HP:0030498","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030498","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MACULAR_THICKENING","geneSymbols":["APC","ARHGEF18","ARL3","C1QTNF5","CCND1","CTNNB1","CYP4V2","DHDDS","FZD4","HGSNAT","HLA-A","IDH3A","KIAA1549","KLHL7","LRP5","MFRP","NDP","NF2","NLRP3","NOD2","NR2E3","NRL","OAT","PDE6G","POMGNT1","PRPF31","PRPF8","PRPH2","RDH5","REEP6","RHO","RLBP1","RP1L1","RP9","TREX1","TRNT1","TSPAN12","VHL","ZNF408"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MACULAR_DRUSEN":{"collection":"C5:HPO","systematicName":"M47250","pmid":"","exactSource":"HP:0030499","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030499","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MACULAR_DRUSEN","geneSymbols":["APOE","CFH","CFHR1","CFHR3","CFI","EFEMP1","HMCN1","UNC119"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_YELLOW_WHITE_LESIONS_OF_THE_MACULA":{"collection":"C5:HPO","systematicName":"M38383","pmid":"","exactSource":"HP:0030500","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030500","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_YELLOW_WHITE_LESIONS_OF_THE_MACULA","geneSymbols":["ABCA4","ALDH3A2","APOE","BEST1","CFH","CFHR1","CFHR3","CFI","CNGB3","EFEMP1","ELOVL4","HGSNAT","HMCN1","IMPG1","IMPG2","PROM1","PRPH2","TIMP3","UNC119"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RETINOSCHISIS":{"collection":"C5:HPO","systematicName":"M38384","pmid":"","exactSource":"HP:0030502","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030502","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETINOSCHISIS","geneSymbols":["ACTB","ACTG1","CLCN2","GFPT1","MFRP","NR2E3","OAT","RS1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_YELLOW_WHITE_LESIONS_OF_THE_RETINA":{"collection":"C5:HPO","systematicName":"M38385","pmid":"","exactSource":"HP:0030506","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030506","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_YELLOW_WHITE_LESIONS_OF_THE_RETINA","geneSymbols":["ABCA4","ABCC6","AGXT","ALDH3A2","ALMS1","APOE","BEST1","C1QTNF5","CC2D2A","CFH","CFHR1","CFHR3","CFI","CNGB3","CTC1","CTNNA1","EFEMP1","ELOVL4","ESPN","FAM111A","FBLN5","FZD4","GUCA1A","GUCY2D","HGSNAT","HMCN1","IFT172","IMPG1","IMPG2","KCNJ13","LCA5","LRAT","LRP5","MFRP","NDP","NEU1","NMNAT1","PLA2G5","POT1","PROM1","PRPF8","PRPH2","RB1","RDH5","RHO","RLBP1","RPE65","SPATA7","TIMP3","TINF2","TMEM98","TREX1","TSPAN12","TUB","UNC119","XYLT1","XYLT2","ZFYVE26","ZNF408"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MODERATELY_REDUCED_VISUAL_ACUITY":{"collection":"C5:HPO","systematicName":"M38386","pmid":"","exactSource":"HP:0030515","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030515","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MODERATELY_REDUCED_VISUAL_ACUITY","geneSymbols":["CNGB3","DNM1L","IMPG1","IMPG2","LRP5","OPA1","RAC1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BITEMPORAL_HEMIANOPIA":{"collection":"C5:HPO","systematicName":"M47251","pmid":"","exactSource":"HP:0030521","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030521","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BITEMPORAL_HEMIANOPIA","geneSymbols":["AIP","AKT1","BAP1","BRAF","CDH23","CTNNB1","MEN1","NF2","PDGFB","PIK3CA","SMARCB1","SMARCE1","SMO","SUFU","TERT","TRAF7"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PARACENTRAL_SCOTOMA":{"collection":"C5:HPO","systematicName":"M43480","pmid":"","exactSource":"HP:0030528","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030528","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PARACENTRAL_SCOTOMA","geneSymbols":["ACO2","CFH","CFI","CYP4V2","EFEMP1","HKDC1","RLBP1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RING_SCOTOMA":{"collection":"C5:HPO","systematicName":"M46279","pmid":"","exactSource":"HP:0030529","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030529","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RING_SCOTOMA","geneSymbols":["ARSG","FLVCR1","HGSNAT","RLBP1","RP2","RPGR","TRNT1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_VISUAL_ACUITY_TEST_ABNORMALITY":{"collection":"C5:HPO","systematicName":"M38388","pmid":"","exactSource":"HP:0030532","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030532","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VISUAL_ACUITY_TEST_ABNORMALITY","geneSymbols":["AKT1","APC","BAP1","C1QTNF5","COL25A1","DHX38","KIF21A","LRP5","NF2","PDGFB","PHOX2A","PIK3CA","POU3F4","SMARCB1","SMARCE1","SMO","SUFU","TERT","TRAF7","TUBA1A","TUBB2B","TUBB3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_BEST_CORRECTED_VISUAL_ACUITY_TEST":{"collection":"C5:HPO","systematicName":"M47252","pmid":"","exactSource":"HP:0030534","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030534","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BEST_CORRECTED_VISUAL_ACUITY_TEST","geneSymbols":["C1QTNF5","COL25A1","KIF21A","PHOX2A","TUBA1A","TUBB2B","TUBB3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_COLOR_VISION_TEST_ABNORMALITY":{"collection":"C5:HPO","systematicName":"M41516","pmid":"","exactSource":"HP:0030584","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030584","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_COLOR_VISION_TEST_ABNORMALITY","geneSymbols":["AFG3L2","ATF6","CNGA3","CNGB3","FA2H","GNAT2","OPN1SW","PDE6C","PDE6H","RPGR"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_VISUAL_FIELD_TEST":{"collection":"C5:HPO","systematicName":"M38389","pmid":"","exactSource":"HP:0030588","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030588","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_VISUAL_FIELD_TEST","geneSymbols":["AKT1","BAP1","BRAF","CDH23","COL25A1","CTNNB1","KIF21A","MT-ATP6","NF2","PDGFB","PHOX2A","PIK3CA","SMARCB1","SMARCE1","SMO","SUFU","TERT","TRAF7","TUBA1A","TUBB2B","TUBB3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_POSTERIOR_SEGMENT_IMAGING":{"collection":"C5:HPO","systematicName":"M38390","pmid":"","exactSource":"HP:0030601","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030601","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_POSTERIOR_SEGMENT_IMAGING","geneSymbols":["AIRE","ARL6","ARSG","ATF6","BBS1","CCDC28B","CFAP418","CFH","CFI","CLCC1","CLEC3B","CNGA3","CNGB3","CWC27","EFEMP1","GNAT2","GUCA1A","GUCY2D","HLA-A","IDH3A","IFT172","KIAA1549","KIF3B","KIZ","KLHL7","MFSD8","PDE6C","PDE6H","PMM2","POMGNT1","PROM1","PRPF31","PRPF8","PRPH2","RAX2","RLBP1","RP1L1","RPGR","SELENOI","SLC24A5","SLC6A6","TIMP3","TLCD3B","TRNT1","TTLL5"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_FUNDUS_AUTOFLUORESCENCE_IMAGING":{"collection":"C5:HPO","systematicName":"M38391","pmid":"","exactSource":"HP:0030602","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030602","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FUNDUS_AUTOFLUORESCENCE_IMAGING","geneSymbols":["AIRE","ARL6","ARSG","BBS1","CCDC28B","CFAP418","CFH","CFI","CWC27","EFEMP1","GUCA1A","GUCY2D","IDH3A","IFT172","KIAA1549","KIF3B","KIZ","KLHL7","MFSD8","POMGNT1","PROM1","PRPF31","PRPF8","PRPH2","RAX2","RPGR","TIMP3","TLCD3B","TTLL5"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PHOTORECEPTOR_LAYER_LOSS_ON_MACULAR_OCT":{"collection":"C5:HPO","systematicName":"M43481","pmid":"","exactSource":"HP:0030609","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030609","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PHOTORECEPTOR_LAYER_LOSS_ON_MACULAR_OCT","geneSymbols":["CLCC1","HLA-A","PMM2","SLC6A6","TRNT1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_RETINAL_MORPHOLOGY_ON_MACULAR_OCT":{"collection":"C5:HPO","systematicName":"M47253","pmid":"","exactSource":"HP:0030612","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030612","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RETINAL_MORPHOLOGY_ON_MACULAR_OCT","geneSymbols":["ATF6","CLCC1","CLEC3B","CNGA3","CNGB3","GNAT2","GUCA1A","GUCY2D","HLA-A","PDE6C","PDE6H","PMM2","PRPH2","RLBP1","RPGR","SELENOI","SLC24A5","SLC6A6","TIMP3","TRNT1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_FOVEAL_MORPHOLOGY_ON_MACULAR_OCT":{"collection":"C5:HPO","systematicName":"M43482","pmid":"","exactSource":"HP:0030613","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030613","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FOVEAL_MORPHOLOGY_ON_MACULAR_OCT","geneSymbols":["CLEC3B","GUCA1A","GUCY2D","PRPH2","RLBP1","SLC24A5"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PERIFOVEAL_RING_OF_HYPERAUTOFLUORESCENCE":{"collection":"C5:HPO","systematicName":"M38393","pmid":"","exactSource":"HP:0030629","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030629","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERIFOVEAL_RING_OF_HYPERAUTOFLUORESCENCE","geneSymbols":["AIRE","CFH","CFI","EFEMP1","GUCA1A","GUCY2D","IFT172","KLHL7","MFSD8","PROM1","PRPF31","PRPF8","PRPH2","RAX2","TLCD3B","TTLL5"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPERAUTOFLUORESCENT_MACULAR_LESION":{"collection":"C5:HPO","systematicName":"M43483","pmid":"","exactSource":"HP:0030631","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030631","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERAUTOFLUORESCENT_MACULAR_LESION","geneSymbols":["ARL6","ARSG","BBS1","CCDC28B","CFAP418","CFH","CFI","EFEMP1","GUCA1A","GUCY2D","POMGNT1","PRPH2","TLCD3B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RETINAL_NEOVASCULARIZATION":{"collection":"C5:HPO","systematicName":"M38394","pmid":"","exactSource":"HP:0030666","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030666","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETINAL_NEOVASCULARIZATION","geneSymbols":["BEST1","CAPN5","CTNNB1","FZD4","LRP5","LRRC32","NDP","TREX1","TSPAN12","ZNF408"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ANTENATAL_ONSET":{"collection":"C5:HPO","systematicName":"M41517","pmid":"","exactSource":"HP:0030674","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030674","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANTENATAL_ONSET","geneSymbols":["ACTA1","ACTG2","ADCY6","ADGRG6","ALDH1A2","ALG1","ALG8","ALPK3","ALX4","ASNS","ATP1A2","B4GAT1","B9D1","B9D2","BICC1","BICD2","BMPER","BUB1B","CACNA1S","CALM2","CC2D2A","CCDC134","CCDC88C","CDC42BPB","CENPE","CHD7","CHRNG","CHUK","CILK1","CLPB","CNTNAP1","COASY","COL2A1","COX16","CPSF3","CPT2","CRB2","CREB3L1","CRLS1","CRTAP","CYP26B1","DCC","DDR2","DDRGK1","DEF6","DLL3","DNM1","DPH5","DYNC2LI1","EIF5A","ERCC5","ERCC8","EXOC7","EXOSC9","EZH2","FANCB","FARSA","FARSB","FGF20","FGFR3","FH","FKBP14","FTO","FZR1","GBA1","GFRA1","GINS1","GLDN","GLUL","GNPTAB","GRIP1","GUSB","HCFC1","HERC2","HNRNPK","IARS1","IFIH1","IL6ST","KDELR2","KDM6A","KIAA0753","KIDINS220","KIF14","KIF20A","KIF5C","KIF7","KLF1","KMT2B","KMT2D","L1CAM","LARS2","LBR","LGI4","LMNA","LMNB1","LMOD1","MAGEL2","MAP3K7","MBTPS2","MCM10","MDFIC","MEGF10","MESP2","MINPP1","MKRN3","MKS1","MNS1","MPDZ","MRPS22","MYH11","MYRF","NAA20","NADK2","NDUFB11","NDUFB3","NDUFB7","NDUFC2","NEK8","NEK9","NPAP1","NRIP1","NSD1","NSD2","NUP155","NUP88","OBSL1","P3H1","PAICS","PCDH12","PDX1","PI4KA","PIGA","PIGG","PKHD1","PLCH1","PLEC","PLG","PLOD3","PLXND1","POMK","PPP1CB","PPP3CA","PRIM1","PRKAG2","PRRX1","PSMD12","PTH1R","PWAR1","PWRN1","PYCR1","RAC1","RAD21","RECQL4","RIPK4","RMRP","RNF2","RNU4ATAC","ROBO1","RPL10","RPL26","RSPO2","RYR1","RYR3","SAMHD1","SCN4A","SCN5A","SCUBE3","SDHA","SDHD","SEC24D","SERPINH1","SHQ1","SIN3A","SKIC2","SLC12A1","SLC25A19","SLC30A9","SLC31A1","SLC35A3","SLC35B2","SLC35D1","SNAP25","SNORD115-1","SNORD116-1","SOS1","SOX10","SOX18","SOX9","STRA6","STT3B","SYNE1","SYT2","TAF2","TBX18","TBXT","TCTN3","THSD1","TMEM216","TMEM218","TMEM38B","TNFRSF11A","TNNT2","TOGARAM1","TOP3A","TPM1","TRAIP","TRIP11","TRPV6","TWIST2","TXNDC15","UBR1","USP18","VRK1","WDR19","WDR4","WDR45B","WNT3","WNT4","WT1","XYLT1","ZBTB42","ZIC2","ZIC3","ZMPSTE24","ZNF526"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_MORPHOLOGY_OF_MYOCARDIAL_TRABECULAE":{"collection":"C5:HPO","systematicName":"M38395","pmid":"","exactSource":"HP:0030681","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030681","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MORPHOLOGY_OF_MYOCARDIAL_TRABECULAE","geneSymbols":["ACTC1","ACTN2","CALM2","COA6","DTNA","HCN4","JUP","LDB3","MIB1","MIPEP","MYBPC3","MYH7","NONO","NPPA","PRDM16","SCN5A","SDHA","SDHD","TNNT2","VARS2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BRAIN_NEOPLASM":{"collection":"C5:HPO","systematicName":"M38396","pmid":"","exactSource":"HP:0030692","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030692","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BRAIN_NEOPLASM","geneSymbols":["AAGAB","APC","CHMP2B","COL14A1","FLI1","GRN","MAPT","NF1","POLD1","POLE","PSEN1","RB1","RELA","TMEM106B","TREM2","VCP","ZFTA"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_VEIN_OF_GALEN_ANEURYSMAL_MALFORMATION":{"collection":"C5:HPO","systematicName":"M43484","pmid":"","exactSource":"HP:0030713","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030713","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VEIN_OF_GALEN_ANEURYSMAL_MALFORMATION","geneSymbols":["EDN1","EPHB4","GNAI3","PLCB4","RASA1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RIGHT_ATRIAL_ENLARGEMENT":{"collection":"C5:HPO","systematicName":"M47254","pmid":"","exactSource":"HP:0030718","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030718","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RIGHT_ATRIAL_ENLARGEMENT","geneSymbols":["ABCC6","ACTC1","AGR2","BANF1","CITED2","FLNA","FLNC","GATA4","GATA6","KIF20A","MCM10","MPDZ","MYBPC3","MYH6","MYL2","MYPN","NKX2-5","NOTCH1","RPL3L","TBX20","TLL1","TNNI3","TNNT2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CENTRAL_NERVOUS_SYSTEM_CYST":{"collection":"C5:HPO","systematicName":"M41518","pmid":"","exactSource":"HP:0030724","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030724","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CENTRAL_NERVOUS_SYSTEM_CYST","geneSymbols":["ABAT","ADAR","ADNP","AFF3","AGTPBP1","AHDC1","ALG3","AP1S2","ARID1A","ARID1B","ARID2","ARMC9","ASXL1","ATP6V0A2","ATP6V1A","ATP6V1B2","ATP6V1E1","B3GALNT2","B4GALT1","B4GAT1","B9D1","B9D2","BCOR","BLTP1","BPTF","BRAF","BUB1","BUB1B","BUB3","C2CD3","CC2D2A","CCDC22","CDC42","CDKN1C","CEP120","CEP290","CEP57","CHD7","COL3A1","COL4A1","CPLX1","CPT2","CRPPA","CSF1R","CSPP1","CTBP1","CTNNB1","D2HGDH","DAG1","DDX3X","DENND5A","DHCR7","DOCK6","DOK7","DPF2","DPH1","DPH2","DPYSL5","DYNC2H1","DYNC2I1","DYNC2I2","EBP","ERCC5","ESCO2","EVC","EVC2","EXOC2","EXOSC3","EXOSC8","EXOSC9","FAR1","FARSA","FGFR1","FGFR2","FGFRL1","FKRP","FKTN","FLVCR2","FTO","GALNT2","GDF6","GFAP","GFM1","GJB2","GJB6","GLI3","GLUL","GMPPB","GPC3","GPC4","GRIA3","GRM1","GTPBP2","HRAS","HYLS1","IDH1","IFT80","IGF2","KANSL1","KCNQ1","KCNQ1OT1","KIAA0586","KIF21A","KIF5A","KIF7","KRAS","LAMA1","LARGE1","LARS2","LETM1","LIPT2","LONP1","MAB21L1","MID1","MKS1","MT-ATP6","MTM1","MUSK","MYOD1","NONO","NPHP3","NRAS","NSD2","NUP54","NUP62","NUP88","OCRL","ODC1","OFD1","OPHN1","PDGFRB","PDHA1","PDHB","PDHX","PEX1","PGAP2","PHGDH","PIEZO2","PIGN","PLCH1","PLG","PMM2","PNPLA2","POLR3A","POMGNT1","POMGNT2","POMK","POMT1","POMT2","PPP1CB","PSMD12","PUF60","RAPSN","RNF113A","RPGRIP1","RPGRIP1L","RXYLT1","SEMA3E","SEPSECS","SLC18A3","SLC25A46","SLC35A2","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SMG9","SNORD118","SNX14","SOX11","SOX4","TBC1D24","TCTN1","TCTN2","TCTN3","TMEM107","TMEM138","TMEM216","TMEM231","TMEM237","TMEM67","TMTC3","TRIP13","TSEN15","TSEN2","TSEN34","TSEN54","TUBA1A","TUBB","TUBGCP2","TXN2","TXNDC15","UQCC3","USP9X","VPS35L","VPS51","VRK1","VSX1","WASHC5","WDR26","WDR35","WDR73","WDR81","WLS","ZIC1","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CARCINOMA":{"collection":"C5:HPO","systematicName":"M41519","pmid":"","exactSource":"HP:0030731","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030731","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CARCINOMA","geneSymbols":["APC","CDKN1B","DKC1","NLRP1","POLE","PTEN","RSPO1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SACROCOCCYGEAL_TERATOMA":{"collection":"C5:HPO","systematicName":"M38397","pmid":"","exactSource":"HP:0030736","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030736","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SACROCOCCYGEAL_TERATOMA","geneSymbols":["APC2","MNX1","NSD1","SETBP1","SETD2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INTRAVENTRICULAR_HEMORRHAGE":{"collection":"C5:HPO","systematicName":"M41520","pmid":"","exactSource":"HP:0030746","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030746","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTRAVENTRICULAR_HEMORRHAGE","geneSymbols":["F8","KANSL1","LMBRD1","MARS2","NFIA","PET100","RNF168","SPARC"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_TOOTH_ABSCESS":{"collection":"C5:HPO","systematicName":"M41521","pmid":"","exactSource":"HP:0030757","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030757","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TOOTH_ABSCESS","geneSymbols":["DLX3","DMP1","ELANE","ENPP1","FGF23","NTRK1","PHEX"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RENAL_FIBROSIS":{"collection":"C5:HPO","systematicName":"M38398","pmid":"","exactSource":"HP:0030760","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030760","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RENAL_FIBROSIS","geneSymbols":["ACP5","ANTXR1","ARL3","BSND","CLCN5","GBE1","MUC1","NDUFAF6","NPHP1","NPHP3","NPHP4","PKHD1","PTPRO","REN","SLC37A4","SLC7A7"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_EAR_PAIN":{"collection":"C5:HPO","systematicName":"M41522","pmid":"","exactSource":"HP:0030766","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030766","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EAR_PAIN","geneSymbols":["AKT1","BAP1","KRT16","KRT17","KRT6A","KRT6B","NF2","PDGFB","PIK3CA","SMARCB1","SMARCE1","SMO","SUFU","TERT","TRAF7"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_PROTEIN_C_ANTICOAGULANT_PATHWAY":{"collection":"C5:HPO","systematicName":"M38399","pmid":"","exactSource":"HP:0030780","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030780","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_PROTEIN_C_ANTICOAGULANT_PATHWAY","geneSymbols":["ALG12","ALG6","ALG8","B4GALT1","DPAGT1","DPM1","F5","GGCX","MPI","NGLY1","PROC","PROS1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INCREASED_CIRCULATING_FREE_FATTY_ACID_LEVEL":{"collection":"C5:HPO","systematicName":"M47255","pmid":"","exactSource":"HP:0030781","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030781","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_CIRCULATING_FREE_FATTY_ACID_LEVEL","geneSymbols":["ACADVL","AKT2","DOLK","GLYCTK","HADH"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CIRCULATING_INTERLEUKIN_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M38400","pmid":"","exactSource":"HP:0030782","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030782","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_INTERLEUKIN_CONCENTRATION","geneSymbols":["ABCB11","ABCB4","ANKRD55","ATP8B1","CARD10","CASP10","CD247","ELF4","FADD","FAS","FASLG","HMOX1","IL12RB1","IL2RA","IL2RB","IL6R","MEFV","NR1H4","POLA1","PRF1","PRKCD","PSMB8","PTPN2","PTPN22","RASGRP1","SASH3","SP110","STAT4","STX11","STXBP2","UNC13D"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INCREASED_CIRCULATING_INTERLEUKIN_6_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M43485","pmid":"","exactSource":"HP:0030783","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030783","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_CIRCULATING_INTERLEUKIN_6_CONCENTRATION","geneSymbols":["ELF4","HMOX1","IL6R","MEFV","PRF1","PSMB8","SASH3","STX11","STXBP2","UNC13D"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ANOMIC_APHASIA":{"collection":"C5:HPO","systematicName":"M38401","pmid":"","exactSource":"HP:0030784","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030784","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANOMIC_APHASIA","geneSymbols":["CHMP2B","GRN","MAPT","PLP1","PSEN1","TMEM106B","TREM2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PHOTOPSIA":{"collection":"C5:HPO","systematicName":"M38402","pmid":"","exactSource":"HP:0030786","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030786","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PHOTOPSIA","geneSymbols":["ARHGEF18","ATP1A2","BAP1","CACNA1A","CYSLTR2","GNA11","GNAQ","HGSNAT","PRRT2","SCN1A","SF3B1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_JAW_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M38403","pmid":"","exactSource":"HP:0030791","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030791","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_JAW_MORPHOLOGY","geneSymbols":["AARS1","ABAT","ABCD1","ABCD4","ABL1","ACAN","ACTA1","ACTA2","ACTB","ACTG1","ACTG2","ADA2","ADAMTS10","ADAMTS2","ADAMTS3","ADAMTSL1","ADAMTSL2","ADAMTSL4","ADAT3","ADGRG1","ADGRG6","AEBP1","AFF3","AFF4","AGA","AGPAT2","AGRN","AHDC1","AIMP2","AIP","AKT1","ALDH1A2","ALG1","ALG11","ALG12","ALG13","ALG14","ALG9","ALX1","ALX3","ALX4","AMER1","AMMECR1","ANAPC7","ANK1","ANKH","ANKLE2","ANKRD11","ANKRD55","ANO5","ANTXR1","AP1S2","AP2M1","AP3D1","AP4M1","APC","APC2","ARCN1","ARHGAP29","ARHGEF38","ARID1B","ARID2","ARL6IP6","ARNT2","ARSL","ARVCF","ARX","ASNS","ASPH","ASXL1","ASXL2","ASXL3","ATAD3A","ATG7","ATP10A","ATP6AP2","ATP6V0A1","ATP6V0A2","ATP6V1A","ATP6V1B2","ATP6V1E1","ATP7A","ATPAF2","ATR","ATRIP","ATRX","AUTS2","B3GALT6","B3GAT3","B3GLCT","B4GALT7","B9D1","B9D2","BANF1","BAZ1B","BCAP31","BCL11A","BCL11B","BCL7B","BDNF","BGN","BICD2","BICRA","BIN1","BLM","BLTP1","BMP2","BMP4","BMPER","BNC2","BPNT2","BPTF","BRAF","BRAT1","BRCA1","BRCA2","BRCC3","BRD4","BRF1","BRIP1","BSCL2","BUB1","BUB1B","BUB3","BUD23","C12orf57","C1R","C1S","C2CD3","CA2","CACNA1C","CACNA1G","CAMTA1","CANT1","CARS1","CASK","CAV1","CAVIN1","CBFB","CBL","CC2D2A","CCBE1","CCDC22","CCDC32","CCDC88A","CCNK","CD247","CD96","CDC42BPB","CDC45","CDC6","CDC73","CDCA7","CDH1","CDH11","CDK5","CDKN1C","CDT1","CENPE","CENPF","CENPJ","CEP120","CEP135","CEP152","CEP290","CEP55","CEP57","CFL2","CHAT","CHD5","CHD7","CHD8","CHN1","CHRNA1","CHRND","CHRNE","CHRNG","CHST14","CHST3","CHSY1","CHUK","CILK1","CLCF1","CLCN3","CLCN4","CLCN7","CLIC2","CLIP2","CLPB","CLTCL1","CNOT2","CNOT3","CNTN1","CNTNAP1","COASY","COBLL1","COG1","COG4","COG5","COG6","COG7","COG8","COL11A1","COL11A2","COL12A1","COL13A1","COL1A1","COL1A2","COL25A1","COL2A1","COL3A1","COL5A1","COL5A2","COL6A1","COL6A2","COL6A3","COL9A1","COL9A2","COL9A3","COLEC11","COLQ","COMT","COX7B","CPE","CPLANE1","CPLX1","CREB3L1","CREBBP","CRIPT","CRLF1","CRPPA","CRTAP","CSGALNACT1","CSNK2A1","CSNK2B","CSPP1","CTBP1","CTC1","CTDP1","CTNND2","CTSK","CTU2","CUL4B","CUL7","CWC27","D2HGDH","DCHS1","DDB1","DDR2","DDX3X","DEAF1","DGCR2","DGCR6","DGCR8","DHCR24","DHCR7","DHODH","DHX30","DICER1","DIS3L2","DKC1","DLG1","DLK1","DLX4","DNA2","DNAJC21","DNAJC30","DNMT3A","DNMT3B","DOCK3","DOCK6","DOK7","DONSON","DPAGT1","DPH1","DPH2","DPH5","DPM1","DPM2","DPYD","DPYSL5","DSE","DSTYK","DVL1","DVL3","DYM","DYNC2H1","DYNC2I1","DYNC2I2","DYRK1A","DZIP1L","EBP","ECEL1","EDA","EDEM3","EDN1","EDNRA","EED","EFEMP2","EFTUD2","EHMT1","EIF4A3","EIF4H","EIF5A","ELN","EMC1","EMG1","EP300","EPG5","ERBB3","ERCC1","ERCC2","ERCC3","ERCC4","ERCC5","ERCC6","ERCC8","ERF","ERGIC1","ERMARD","ESCO2","ESS2","EXOC7","EXOSC1","EXOSC5","EXT1","EXT2","EXTL3","EYA1","EZH2","FAM149B1","FAM20C","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FARS2","FAT4","FBN1","FBN2","FBXL3","FBXO28","FBXO31","FBXW11","FDFT1","FGD1","FGF10","FGF3","FGFR1","FGFR2","FGFR3","FGFRL1","FHL1","FIG4","FKBP6","FKRP","FKTN","FLCN","FLII","FLNA","FLNB","FLVCR2","FMR1","FOCAD","FOS","FOXC1","FOXC2","FOXE1","FOXE3","FOXF1","FOXG1","FOXP1","FOXP2","FRA10AC1","FRMPD4","FTO","FUT8","FZD2","GABRA3","GAD1","GALNS","GATA1","GATA4","GATAD2B","GBA1","GDF11","GEMIN4","GFPT1","GHR","GJA1","GJA5","GJA8","GLB1","GLDN","GLE1","GLI2","GLI3","GMNN","GNA11","GNAI3","GNB2","GNPAT","GNPTAB","GOLGA2","GON7","GORAB","GP1BB","GPC3","GPC4","GPC6","GPKOW","GPR101","GRB10","GRHL3","GRIA3","GRIA4","GRIP1","GSC","GTF2E2","GTF2H5","GTF2I","GTF2IRD1","GTF2IRD2","H3-3A","H3-3B","H4C3","H4C5","H4C9","HACD1","HBA1","HBA2","HBB","HCCS","HDAC6","HDAC8","HEATR3","HECTD4","HELLS","HERC1","HERC2","HEY2","HIRA","HMGA2","HMX1","HNF1B","HNRNPH1","HNRNPH2","HNRNPK","HNRNPR","HNRNPU","HOXB1","HPDL","HRAS","HS2ST1","HS6ST2","HSD17B4","HSPG2","HUWE1","HYLS1","HYMAI","HYOU1","IARS2","IBA57","IDH1","IDS","IDUA","IFIH1","IFT140","IFT43","IFT80","IGBP1","IGF1","IGF1R","IGF2","IGFALS","IL11RA","IL1RAPL1","IL2RA","IL2RB","IL6ST","INSR","INTS1","INTU","IPO8","IQSEC2","IRF6","IRX5","ITGA7","ITGA8","JARID2","JMJD1C","KAT5","KAT6A","KAT6B","KATNB1","KBTBD13","KCNC2","KCNH1","KCNJ2","KCNJ5","KCNJ6","KCNK4","KCNK9","KCNMA1","KCNN3","KCTD1","KDM4B","KDM5C","KDM6A","KDM6B","KIAA0586","KIAA0753","KIDINS220","KIF11","KIF14","KIF15","KIF21A","KIF26A","KIF7","KIFBP","KLHL41","KMT2A","KMT2B","KMT2D","KNL1","KPTN","KRAS","LAGE3","LAMA2","LAMB2","LARGE1","LAS1L","LBR","LEMD2","LEMD3","LETM1","LGI4","LIFR","LIG4","LIMK1","LMBRD2","LMNA","LMOD3","LOX","LRP4","LRP5","LRPPRC","LRRC32","LTBP3","LTBP4","LZTR1","MAD1L1","MAD2L2","MADD","MAF","MAFB","MAGEL2","MAMLD1","MAN2B1","MAN2C1","MAP2K1","MAP3K20","MAP3K7","MAPK1","MAPK8IP3","MAPKAPK5","MAPRE2","MARS1","MAT2A","MBD5","MCM5","MCTP2","MECP2","MED12","MED13L","MED25","MEG3","MEGF8","MEN1","MESD","METTL27","MFAP5","MGAT2","MIA3","MID1","MINPP1","MIPEP","MITF","MKS1","MLXIPL","MMP2","MOGS","MPLKIP","MRAS","MRPS22","MSL3","MSTO1","MSX1","MTM1","MTX2","MUSK","MYBPC1","MYCN","MYH11","MYH3","MYH7","MYH8","MYL11","MYL2","MYLK","MYMK","MYMX","MYO18B","MYO9A","MYOD1","MYPN","NAA10","NALCN","NARS1","NBN","NCAPG2","NCF1","NDE1","NDST1","NDUFB11","NEB","NECTIN1","NEDD4L","NEK1","NEK9","NELFA","NEPRO","NEXMIF","NF1","NFASC","NFIX","NHP2","NHS","NIPBL","NOP10","NOTCH2","NOTCH3","NPM1","NR2F1","NRAS","NRCAM","NSD1","NSD2","NSDHL","NSMCE2","NSRP1","NSUN2","NUDT2","NUP107","NUP133","NUP188","NUP85","NUP88","NXN","OCA2","OCLN","OCRL","ODC1","OFD1","OPHN1","ORC1","ORC4","ORC6","OSGEP","OSTM1","OTUD5","OTUD6B","OTX2","P4HB","P4HTM","PAH","PAK2","PALB2","PARN","PAX1","PAX3","PAX6","PAX7","PCDHGC4","PCGF2","PCNT","PDE4D","PDE6D","PDGFRA","PDGFRB","PEPD","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PEX7","PGAP2","PGAP3","PGM1","PHF21A","PHGDH","PHIP","PI4KA","PIEZO1","PIEZO2","PIGA","PIGB","PIGF","PIGG","PIGL","PIGN","PIGO","PIGQ","PIGT","PIGV","PIGW","PIGY","PIK3C2A","PIK3CA","PIK3R1","PITX2","PKDCC","PKHD1","PLA2G6","PLAA","PLAG1","PLAGL1","PLCB4","PLK4","PLVAP","PLXND1","PMM2","PNKD","POC1A","POGZ","POLA1","POLD1","POLE","POLR1A","POLR1B","POLR1C","POLR1D","POLR3A","POMGNT1","POMT1","POMT2","PPARG","PPP1R12A","PPP1R15B","PPP3CA","PQBP1","PRDM13","PREPL","PRIM1","PRKACA","PRKACB","PRKAR1A","PRKG1","PRKG2","PRMT7","PRORP","PRR12","PRRT2","PRRX1","PRUNE1","PSAT1","PSMC1","PSMD12","PSPH","PTCH1","PTCH2","PTDSS1","PTEN","PTH1R","PTPN11","PTPN2","PTPN22","PUF60","PURA","PUS1","PUS7","PYCR1","PYCR2","PYROXD1","RAB18","RAB23","RAB33B","RAB3GAP1","RAB3GAP2","RAC3","RAD21","RAD51","RAD51C","RAF1","RAI1","RAPSN","RARB","RASA2","RB1","RBBP8","RBM10","RBM8A","RDH11","RECQL","RECQL4","RELN","RERE","REV3L","RFC2","RFT1","RFWD3","RFX7","RHOBTB2","RIC1","RIN2","RIPK4","RIT1","RLIM","RMRP","RNF113A","RNF125","RNU12","RNU4ATAC","ROBO1","ROR2","RPGRIP1","RPGRIP1L","RPL10","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS6KA3","RPS7","RRAS","RRAS2","RREB1","RSPO2","RSRC1","RTEL1","RTL1","RTTN","RUNX2","RUSC2","RYR1","RYR3","SALL4","SATB2","SC5D","SCARF2","SCN4A","SCN9A","SCNM1","SCYL2","SEC23A","SEC24C","SEC24D","SEC31A","SELENON","SEMA5A","SERPINH1","SETBP1","SETD2","SETD5","SF3B2","SF3B4","SFRP4","SH2B1","SH3BP2","SH3PXD2B","SHANK3","SHOX","SIM1","SIN3A","SIX1","SIX3","SIX5","SKI","SLC10A7","SLC12A2","SLC12A6","SLC18A3","SLC25A1","SLC25A19","SLC25A24","SLC26A2","SLC29A3","SLC2A10","SLC35A2","SLC35A3","SLC35B2","SLC35C1","SLC37A4","SLC3A1","SLC5A7","SLC6A17","SLC6A8","SLC6A9","SLC9A6","SLX4","SMAD2","SMAD3","SMAD4","SMC1A","SMC3","SMC5","SMG8","SMO","SMOC1","SMPD4","SMS","SNAP25","SNIP1","SNRPB","SNRPN","SOBP","SON","SOS1","SOS2","SOST","SOX18","SOX5","SOX6","SOX9","SP7","SPATA5","SPATA5L1","SPECC1L","SPEG","SPEN","SPOP","SPRED1","SPRED2","SPRTN","SRCAP","SRPX2","SRY","SSR4","STAC3","STAG1","STAG2","STAMBP","STAT4","STEEP1","STRA6","STT3A","STX1A","SUFU","SUPT16H","SUZ12","SVIL","SYT2","TAB2","TAF1","TAFAZZIN","TAPT1","TARS1","TASP1","TBC1D20","TBC1D2B","TBC1D7","TBCD","TBCE","TBCK","TBL2","TBX1","TBX15","TBX4","TCOF1","TCTN1","TCTN2","TCTN3","TELO2","TENT5A","TERC","TERT","TFAP2A","TGDS","TGFB1","TGFB2","TGFB3","TGFBR1","TGFBR2","THOC6","THSD4","THUMPD1","TINF2","TMCO1","TMEM107","TMEM216","TMEM231","TMEM237","TMEM270","TMEM67","TMEM70","TNFSF11","TNNI2","TNNT3","TNPO2","TNRC6B","TOE1","TONSL","TOPORS","TOR1A","TP53RK","TP63","TPM2","TPM3","TPRKB","TRAIP","TRIO","TRIP11","TRIP13","TRIP4","TRMT1","TRMT10A","TRPM3","TRPS1","TRRAP","TSEN54","TSR2","TTN","TUBA1A","TUBB","TUBB3","TUBGCP2","TWIST1","TWIST2","TXNDC15","TXNL4A","TYMS","UBA1","UBA2","UBB","UBE2T","UBE3A","UBE3B","UFD1","UNC80","UPF3B","USB1","VAC14","VAMP1","VARS1","VPS13A","VPS13B","VPS33B","VPS35L","VPS37D","VPS53","WASHC5","WBP11","WDR11","WDR26","WDR35","WDR4","WDR62","WDR73","WLS","WNT3","WNT5A","WNT7A","WRAP53","WT1","XRCC2","XRCC4","YARS1","YARS2","YRDC","YY1","ZBTB11","ZBTB18","ZBTB20","ZBTB24","ZC4H2","ZDHHC9","ZEB2","ZMIZ1","ZMPSTE24","ZNF292","ZNF335","ZNF341","ZNF668","ZNF699","ZNHIT3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CIRCULATING_C_PEPTIDE_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M38404","pmid":"","exactSource":"HP:0030794","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030794","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_C_PEPTIDE_CONCENTRATION","geneSymbols":["ABCC8","AGPAT2","APPL1","BLK","BSCL2","CAV1","CAVIN1","CEL","CIDEC","CNOT1","FOS","GCK","HADH","HNF1A","HNF4A","INS","INSR","KCNJ11","KLF11","NAB2","NEUROD1","PAX4","PDX1","PPARG","SLC25A36","STAT6","UCP2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_REDUCED_C_PEPTIDE_LEVEL":{"collection":"C5:HPO","systematicName":"M41523","pmid":"","exactSource":"HP:0030795","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030795","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_C_PEPTIDE_LEVEL","geneSymbols":["CNOT1","GCK","INS","KCNJ11","NAB2","PDX1","STAT6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INCREASED_C_PEPTIDE_LEVEL":{"collection":"C5:HPO","systematicName":"M41524","pmid":"","exactSource":"HP:0030796","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030796","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_C_PEPTIDE_LEVEL","geneSymbols":["ABCC8","AGPAT2","BSCL2","CAV1","CAVIN1","CIDEC","FOS","HADH","HNF1A","INSR","KCNJ11","PPARG","SLC25A36","UCP2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SCAPHOCEPHALY":{"collection":"C5:HPO","systematicName":"M38405","pmid":"","exactSource":"HP:0030799","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030799","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SCAPHOCEPHALY","geneSymbols":["AGO2","ALG14","ARCN1","ASXL3","ATP6V0A2","CNTN1","COL25A1","DPH1","DPH2","ERGIC1","FBN1","FBN2","GLI3","HSD17B4","IDS","IFT122","IFT140","IFT43","IL11RA","IL6ST","KCNJ2","KCNJ5","KIF15","KPTN","KRAS","NFIX","OGDHL","PEX19","PRIM1","RFX7","RYR1","SCARF2","SCN4A","SCYL2","SOX6","TBC1D7","THUMPD1","TRAIP","TWIST1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_TONGUE_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M38406","pmid":"","exactSource":"HP:0030809","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030809","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_TONGUE_MORPHOLOGY","geneSymbols":["ABCC8","ACTB","ACVRL1","ADGRG1","ADNP","AFF3","AFF4","AGA","AGPAT2","AIP","AKT1","ALG3","ALG6","ALG8","ALX3","AMN","AMPD2","AP1S3","ARID1A","ARSB","ATP6V1B2","ATRX","B9D1","B9D2","BAZ1B","BCL7B","BCR","BMP4","BSCL2","BTK","BUD23","C2CD3","CAV1","CAVIN1","CC2D2A","CCDC22","CCDC47","CDC42BPB","CDCA7","CDKN1C","CEP120","CEP290","CLIC2","CLIP2","CLTRN","COG1","COG7","COL11A1","COL11A2","COL2A1","COL7A1","CPLANE1","CPSF3","CRKL","CRPPA","CSNK2A1","CSNK2B","CSPP1","CUBN","CUL4B","DDX59","DHCR7","DHX30","DLK1","DNAJC30","DNM1","DNMT3B","DOK7","DUOX2","DUOXA2","DVL1","DVL3","DYNC2H1","DYNC2I1","DYNC2I2","ECEL1","ECM1","EDN1","EDNRA","EHMT1","EIF4H","ELN","ENG","ERLIN2","EXOSC3","FAM111A","FAM149B1","FAM20C","FBXO28","FDX2","FIBP","FIG4","FKBP6","FKRP","FLNA","FOS","FOXE1","FOXG1","FRAS1","FREM2","FRG1","FTO","FUCA1","FZD2","GAA","GATA1","GJB2","GLB1","GLI3","GMPPB","GNAI3","GNE","GNPTAB","GNS","GPC3","GPC4","GPR101","GRIK2","GRIP1","GSN","GTF2I","GTF2IRD1","GTF2IRD2","GUSB","H4C5","HELLS","HESX1","HEXB","HLA-B","HLA-DRB1","HNRNPK","HRAS","HS2ST1","HYMAI","IDS","IDUA","IFT140","IFT80","IGF2","IGHMBP2","IL36RN","IL6ST","INPP5E","INSR","IPO8","IYD","KCNH1","KCNJ11","KCNMA1","KCNN3","KCNQ1","KCNQ1OT1","KDM5C","KIAA0753","KIF7","KLLN","KMT2D","KRT14","KRT5","KRT6A","KY","LAMA2","LARGE1","LHX3","LHX4","LIFR","LIMK1","LIMS2","LMBRD1","LMNA","LMNB1","LMNB2","MAN2B1","MAN2C1","MAPK1","MBD5","MCTP2","MED13L","MED25","MEF2C","MEG3","METTL27","MGAT2","MID1","MKS1","MLXIPL","MMACHC","MMP1","MORC2","MT-TE","MYMK","MYMX","NCF1","NEFL","NEK1","NEK9","NEU1","NFASC","NFIX","NKX2-1","NKX2-5","NOP56","NRXN1","NXN","OCA2","OFD1","OPTN","OTX2","P4HA2","PANK2","PAX8","PDE11A","PDE6D","PEX1","PEX16","PI4KA","PIGB","PIGS","PIGW","PIK3C2A","PIK3CA","PKP1","PLAGL1","PLCB4","PLXND1","POLR1B","POLR1C","POLR1D","POMGNT1","POMK","POMT1","POMT2","POP1","POU1F1","POU4F1","PPARG","PQBP1","PRKAG2","PRKAR1A","PROP1","PRR12","PRRX1","PSMB8","PTDSS1","PTEN","PTH1R","PTPN22","RAB3GAP1","RAB3GAP2","RALGAPA1","RBBP8","RBM10","RERE","REV3L","RFC2","RIPK4","RMRP","RNF125","ROR2","RPGRIP1","RPGRIP1L","RSPO2","RTL1","RUNX2","SBF2","SCNM1","SDHB","SDHC","SDHD","SEC23B","SET","SETBP1","SGCG","SH3TC2","SLC25A24","SLC26A4","SLC35B2","SLC35C1","SLC37A4","SLC39A4","SLC46A1","SLC52A3","SLC5A5","SLC6A19","SMARCA4","SMARCB1","SMO","SNIP1","SNRPB","SNRPN","SNX14","SOX5","SOX9","SPTBN1","SPTLC1","SREBF1","SRPX2","STX1A","TAF1","TBCK","TBL2","TBX15","TBX22","TCOF1","TCTN1","TCTN2","TCTN3","TELO2","TG","TGDS","THRA","TMEM107","TMEM216","TMEM231","TMEM237","TMEM270","TMEM67","TOPORS","TPO","TRAF3IP2","TRIM37","TRIP11","TRMU","TSHB","TSHR","TXNDC15","UBE3A","USF3","VAC14","VPS13A","VPS13B","VPS33A","VPS37D","WDR35","WNT10A","WNT5A","ZBTB24","ZFP57","ZMPSTE24","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_TONGUE_PHYSIOLOGY":{"collection":"C5:HPO","systematicName":"M38407","pmid":"","exactSource":"HP:0030810","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030810","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_TONGUE_PHYSIOLOGY","geneSymbols":["ADPRS","AGTPBP1","AIFM1","ALS2","ASAH1","ATP11A","ATP13A2","ATP1A2","CACNA1A","CHCHD10","EDN1","EGR2","ELP1","EXOSC3","EXOSC8","EXOSC9","FRAS1","FXR1","GAA","GIPC1","GNAI3","KCNK9","KIF1A","LGI3","LRP12","MEGF10","MPZ","MTPAP","NDUFS4","NOP56","NOTCH2NLC","NTRK1","OPTN","PLCB4","PMP22","POLG","PRRT2","PRUNE1","PRX","RETREG1","RILPL1","RMND1","SBF2","SCN1A","SCN9A","SH3TC2","SLC25A21","SLC25A46","SLC39A4","SLC52A2","SLC52A3","SMN1","SMN2","SPTLC1","SYNGAP1","SYT2","TBCD","TOE1","TRANK1","TSPYL1","TUBB4A","UBA1","VCP","VRK1","VWA1","WNK1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ENLARGED_TONSILS":{"collection":"C5:HPO","systematicName":"M41525","pmid":"","exactSource":"HP:0030812","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030812","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ENLARGED_TONSILS","geneSymbols":["AKT2","CA2","CD40LG","IDS","IDUA","IL2RA","PIK3R1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_GINGIVAL_RECESSION":{"collection":"C5:HPO","systematicName":"M38408","pmid":"","exactSource":"HP:0030816","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030816","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GINGIVAL_RECESSION","geneSymbols":["C1R","C1S","COL3A1","CTSC","DSP","FIG4","VAC14"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HOODED_EYELID":{"collection":"C5:HPO","systematicName":"M45476","pmid":"","exactSource":"HP:0030820","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030820","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HOODED_EYELID","geneSymbols":["AP1G1","CDC42BPB","MYMX","PIGQ","PRR12","SMC3","SOX6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABSENT_FOVEAL_REFLEX":{"collection":"C5:HPO","systematicName":"M38409","pmid":"","exactSource":"HP:0030825","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030825","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_FOVEAL_REFLEX","geneSymbols":["ATF6","CACNA1F","CNGA3","CNGB3","GNAT2","HPS6","OFD1","PDE6C","PDE6G","PDE6H","PRPH2","RBP4","RDH5","RHO","RLBP1","RPE65","RPGR","TLCD3B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_WHEEZING":{"collection":"C5:HPO","systematicName":"M38410","pmid":"","exactSource":"HP:0030828","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030828","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WHEEZING","geneSymbols":["AGR2","ATP8B1","BTK","CCDC103","CCDC39","CCDC40","CCDC65","CCNO","CFAP221","CFAP298","CFAP300","CFAP74","CFTR","CRLF1","DNAAF1","DNAAF11","DNAAF2","DNAAF3","DNAAF4","DNAAF5","DNAAF6","DNAH1","DNAH11","DNAH5","DNAH9","DNAI1","DNAI2","DNAJB13","DNAL1","DRC1","FCGR3A","FOXJ1","GAS2L2","GAS8","HLA-DQA1","HLA-DQB1","HYDIN","LRRC56","MCIDAS","NEK10","NKX2-1","NME5","NME8","NOS1","ODAD1","ODAD2","ODAD3","ODAD4","OFD1","PRIM1","RPGR","RSPH1","RSPH3","RSPH4A","RSPH9","SCNN1A","SCNN1B","SCNN1G","SERPINA1","SPAG1","SPEF2","STK36","TTC12","ZMYND10"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_BREATH_SOUND":{"collection":"C5:HPO","systematicName":"M38411","pmid":"","exactSource":"HP:0030829","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030829","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BREATH_SOUND","geneSymbols":["ABCA3","AGR2","AGRN","AGTPBP1","ATP11A","ATP8B1","BTK","CACNA1C","CCDC103","CCDC39","CCDC40","CCDC65","CCNO","CFAP221","CFAP298","CFAP300","CFAP74","CFTR","CHAT","COL13A1","COQ2","CRLF1","CSF2RA","CSF2RB","CTSK","D2HGDH","DNAAF1","DNAAF11","DNAAF2","DNAAF3","DNAAF4","DNAAF5","DNAAF6","DNAH1","DNAH11","DNAH5","DNAH9","DNAI1","DNAI2","DNAJB13","DNAL1","DPP9","DRC1","DSP","DST","EXOSC3","EXOSC8","EXOSC9","FAM13A","FCGR3A","FLNA","FOXJ1","GAS2L2","GAS8","GBA1","GNB1","GNPTAB","GTPBP3","HLA-DQA1","HLA-DQB1","HLA-DRB1","HYDIN","IGHMBP2","JAG1","KIF22","LAMA3","LAMB3","LAMC2","LRRC56","LYRM4","MAP3K7","MCIDAS","MID1","MIR140","MUC5B","MYO9A","NEK10","NFASC","NFIX","NKX2-1","NME5","NME8","NOS1","ODAD1","ODAD2","ODAD3","ODAD4","OFD1","PARN","PAX8","PLP1","PRIM1","RPGR","RSPH1","RSPH3","RSPH4A","RSPH9","RTEL1","RYR1","SCARF2","SCN4A","SCNN1A","SCNN1B","SCNN1G","SCO2","SERPINA1","SERPING1","SFTPA1","SFTPA2","SFTPC","SLC18A2","SLC18A3","SLC25A1","SLC25A46","SLC52A3","SLC5A7","SNAP25","SOX9","SPAG1","SPEF2","STK36","STN1","SYT2","TERC","TERT","TRPV4","TSPYL1","TTC12","VAMP1","VPS33A","VRK1","ZMYND10"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CRACKLES":{"collection":"C5:HPO","systematicName":"M38412","pmid":"","exactSource":"HP:0030830","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030830","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CRACKLES","geneSymbols":["ABCA3","AGR2","ATP11A","CFTR","CSF2RA","CSF2RB","DPP9","DSP","FAM13A","HLA-DRB1","MUC5B","NKX2-1","PARN","RTEL1","RYR1","SCNN1A","SCNN1B","SCNN1G","SFTPA1","SFTPA2","SFTPC","STN1","TERC","TERT"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NECK_PAIN":{"collection":"C5:HPO","systematicName":"M45477","pmid":"","exactSource":"HP:0030833","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030833","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NECK_PAIN","geneSymbols":["DKK1","HMBS","HTRA1","RASA1","TONSL"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SHOULDER_PAIN":{"collection":"C5:HPO","systematicName":"M38413","pmid":"","exactSource":"HP:0030834","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030834","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHOULDER_PAIN","geneSymbols":["B2M","CD46","CFH","CFI","HELLPAR","PMP22","TONSL"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HIP_PAIN":{"collection":"C5:HPO","systematicName":"M38414","pmid":"","exactSource":"HP:0030838","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030838","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HIP_PAIN","geneSymbols":["BSCL2","COL2A1","HNRNPA1","HNRNPA2B1","HYAL1","LEMD3","LMNA","MATN3","TRPV4","VCP","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_KNEE_PAIN":{"collection":"C5:HPO","systematicName":"M43486","pmid":"","exactSource":"HP:0030839","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030839","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_KNEE_PAIN","geneSymbols":["B2M","BSCL2","COL2A1","COL9A1","COL9A2","COL9A3","COMP","GJB2","GJB6","HYAL1","LMX1B","MATN3","MMP13","SLCO2A1","TONSL","TRAPPC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ANKLE_PAIN":{"collection":"C5:HPO","systematicName":"M46280","pmid":"","exactSource":"HP:0030840","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030840","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANKLE_PAIN","geneSymbols":["COMP","HYAL1","LEMD3","MAFB","MATN3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CHOKING_EPISODES":{"collection":"C5:HPO","systematicName":"M38415","pmid":"","exactSource":"HP:0030842","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030842","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHOKING_EPISODES","geneSymbols":["AGRN","CACNA1A","CHAT","COL13A1","DNM1","HTT","MYO9A","PLA2G6","SCN4A","SLC18A3","SLC25A1","SLC2A3","SLC5A7","SNAP25","SYT2","VAMP1","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_VENOUS_PHYSIOLOGY":{"collection":"C5:HPO","systematicName":"M38416","pmid":"","exactSource":"HP:0030846","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030846","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_VENOUS_PHYSIOLOGY","geneSymbols":["BMP6","BMPR2","CD55","F5","HFE","JAK2","MPL","MYH7","PIGA","TERC","TERT","TET2","TINF2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HETEROTAXY":{"collection":"C5:HPO","systematicName":"M38417","pmid":"","exactSource":"HP:0030853","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030853","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HETEROTAXY","geneSymbols":["ACTG2","CCDC32","CCDC39","CFAP52","CFAP53","CFC1","CIROP","CPLX1","CTBP1","DNAAF5","DNAH9","FANCB","FOXJ1","GDF1","KDM3B","LETM1","MMP21","NEK10","NELFA","NODAL","NSD2","ODAD4","PIGG","PKD1L1","SMAD2","ZIC3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SCLERAL_STAPHYLOMA":{"collection":"C5:HPO","systematicName":"M41526","pmid":"","exactSource":"HP:0030854","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030854","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SCLERAL_STAPHYLOMA","geneSymbols":["ARL2","BEST1","CFAP410","HADHA","IMPG2","MC1R","OCA2","PAX2","PIGT","VPS4A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_POSTERIOR_STAPHYLOMA":{"collection":"C5:HPO","systematicName":"M46281","pmid":"","exactSource":"HP:0030856","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030856","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POSTERIOR_STAPHYLOMA","geneSymbols":["ARL2","BEST1","CFAP410","HADHA","IMPG2","MC1R","OCA2","PIGT"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_EYE_MOVEMENT_INDUCED_PAIN":{"collection":"C5:HPO","systematicName":"M45478","pmid":"","exactSource":"HP:0030857","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030857","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EYE_MOVEMENT_INDUCED_PAIN","geneSymbols":["AGBL1","COL8A2","SLC4A11","TCF4","ZEB1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_SPINAL_FACET_JOINT":{"collection":"C5:HPO","systematicName":"M46282","pmid":"","exactSource":"HP:0030870","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030870","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_SPINAL_FACET_JOINT","geneSymbols":["AEBP1","CCL2","FUZ","TBXT","VANGL1","VANGL2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CARDIAC_VENTRICULAR_FUNCTION":{"collection":"C5:HPO","systematicName":"M38419","pmid":"","exactSource":"HP:0030872","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030872","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CARDIAC_VENTRICULAR_FUNCTION","geneSymbols":["AARS2","ABCC6","ABCC9","ABCG5","ABCG8","ACADVL","ACTA2","ACTC1","ADAMTS19","ALPK3","APOB","ATP13A3","ATRX","B2M","BAG3","BAG5","BMPR2","BTNL2","CCND1","CITED2","COA6","CRYAB","CSRP3","DAXX","DES","DLD","DMD","DSG2","DVL1","DYSF","EFEMP2","EIF2AK4","ELN","ENPP1","EYA4","FBLN5","FBN1","FHOD3","FKRP","FKTN","FLNC","FOCAD","FOXE3","GAA","GATA4","GATA6","GATAD1","GDF1","GET3","GJA5","GTPBP3","HEY2","HLA-DRB1","KCNJ5","KIF20A","KLHL24","LAMA2","LAMA4","LAMP2","LDB3","LDLR","LDLRAP1","LMNA","LMOD2","LOX","LTBP1","MAT2A","MFAP5","MT-CO1","MT-CO2","MT-CO3","MT-CYB","MT-ND1","MT-ND5","MT-ND6","MT-TC","MT-TF","MT-TK","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TV","MT-TW","MYBPC3","MYH11","MYH6","MYH7","MYL3","MYLK","MYOZ2","MYPN","NEXN","NKX2-5","NONO","NPPA","NR2F2","OTUD5","PCSK9","POLG","POLG2","POMT1","POMT2","PPCS","PRDM16","PRKG1","PSEN1","PSEN2","RAF1","RBM20","ROR2","RPL3L","RRAGD","RRM2B","SCN5A","SDHA","SDHAF1","SDHB","SDHD","SELENON","SGCD","SGCG","SLC25A4","SLC34A2","SLC6A6","SMAD2","SMAD3","SMAD4","TAB2","TAFAZZIN","TBX20","TET2","TGFB2","TGFB3","TGFBR1","TGFBR2","THSD4","TLL1","TNNC1","TNNI3","TNNT2","TOP3A","TPM1","TTN","TTR","TWNK","VCL","VEZF1","VHL","WNT5A","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_PULMONARY_CIRCULATION":{"collection":"C5:HPO","systematicName":"M38420","pmid":"","exactSource":"HP:0030875","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030875","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_PULMONARY_CIRCULATION","geneSymbols":["ABCC6","ABCD4","ACTA2","ACTC1","ACVRL1","AFF4","AGGF1","AGK","AGR2","AKT1","ALDH1A2","ALMS1","ARHGAP31","ARSB","ATP13A3","ATP5F1A","BANF1","BMPR2","BTNL2","C4A","CA2","CACNA1C","CACNA1D","CAV1","CBS","CCN2","CCR1","CCR6","CD55","CHST3","CITED2","CLCN7","COG1","COL1A1","COL1A2","COLQ","COX5A","COX6B1","COX7B","COX8A","CTCF","DEF6","DLK1","DLL4","DOCK6","EIF2AK4","ENG","ENPP1","EOGT","ERAP1","F13A1","F2","F8","FAS","FBN1","FGFR1","FGFR3","FIG4","FLNA","FLNC","FOXF1","FOXP1","G6PC3","GATA4","GATA6","GBA1","GDF2","GNAQ","HABP2","HBB","HLA-B","HLA-DRB1","HSPG2","IDUA","IFNGR1","IKBKG","IL10","IL12A","IL12A-AS1","IL12B","IL23R","IL6ST","IPO8","IRF5","JAK2","KCNJ5","KCNK3","KCNN4","KIAA0319L","KIF20A","KLRC4","KMT2D","KRAS","KRT18","LAMA2","LAMB2","LARS2","LIFR","LIPT1","LMNA","MED12","MED25","MEFV","MEG3","MGP","MLX","MMACHC","MPL","MT-CO1","MT-CO2","MT-CO3","MT-ND1","MT-ND4","MT-ND5","MT-ND6","MT-TF","MT-TH","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TW","MTHFR","MUC5B","MYBPC3","MYH11","MYH6","MYH7","MYMK","MYPN","NAA10","NDUFA8","NDUFB10","NF1","NFIX","NFU1","NKX2-1","NKX2-5","NOD2","NOTCH1","ODAD1","PAM16","PDSS1","PGM1","PIEZO1","PIGA","PIGN","PLP1","PPCS","PRIM1","PROC","PROS1","PTEN","RBPJ","RHAG","RPL3L","RTL1","SARS2","SCARB2","SERPINC1","SFTPA2","SFTPB","SFTPC","SLC25A24","SLC29A3","SLC34A2","SLC37A4","SLC4A1","SMAD4","SMAD9","SMARCAL1","SNX10","STAT1","STAT4","TBX20","TBX4","TCIRG1","TERT","TET2","THBD","THPO","THSD1","TLL1","TLR4","TNFSF11","TNNI3","TNNT2","TOM1","TRRAP","TTC26","UBAC2","UBE2A","VAC14","VCL","VHL","VPS33A","ZMPSTE24","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_REDUCED_FEV1_FVC_RATIO":{"collection":"C5:HPO","systematicName":"M41527","pmid":"","exactSource":"HP:0030877","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030877","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_FEV1_FVC_RATIO","geneSymbols":["CFTR","DNAH11","ENG","HLA-DPB1","SCNN1A","SCNN1B","SCNN1G"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_ON_PULMONARY_FUNCTION_TESTING":{"collection":"C5:HPO","systematicName":"M38421","pmid":"","exactSource":"HP:0030878","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030878","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_ON_PULMONARY_FUNCTION_TESTING","geneSymbols":["ABCC6","ACP5","ACTA1","ACTN2","AGRN","AK9","AKT1","ALMS1","ARSB","B3GALT6","BAG3","BAP1","BICD2","BTNL2","CD19","CD81","CEACAM3","CEACAM6","CFAP410","CFTR","CHCHD10","CHRNA1","CHRNB1","CHRND","CHRNE","CLCA4","COL13A1","COL2A1","COL6A2","COPA","CR2","CRPPA","CSF2RA","CSF2RB","CTLA4","DCTN4","DDR2","DKC1","DLK1","DMD","DNAH11","DNAH9","DNASE1L3","DOK7","EDNRA","EIF2AK4","ENG","FAM111B","FARSA","FCGR2A","FGFR3","FKRP","FLNB","FRG1","GALNS","GCLC","GDAP1","GGPS1","GIPC1","GLB1","GNPTAB","GSTM3","HCK","HES7","HFE","HLA-B","HLA-DPA1","HLA-DPB1","HLA-DRB1","HMOX1","HPS1","HPS4","ICOS","IDS","IKZF1","IRF2BP2","ITCH","JAG2","KBTBD13","KCNN4","KLHL41","LRP12","LRP4","MAP3K20","MCIDAS","MEG3","MEGF10","MESP2","MIF","MS4A1","MT-TL1","MT-TL2","MT-TN","MT-TS1","MUC5B","MUSK","MYH7","MYO1H","MYOT","MYPN","NAA10","NDUFAF6","NEB","NEK10","NF2","NFKB1","NFKB2","NKX2-1","NLRP3","NOTCH2NLC","PARN","PDGFB","PIEZO2","PIK3CA","PLOD1","POGLUT1","PRKCD","PRTN3","PTPN22","PUS1","PYROXD1","RAPSN","RILPL1","RNF168","RNU4ATAC","RPA1","RTEL1","RTL1","SBF2","SCN4A","SCNN1A","SCNN1B","SCNN1G","SELENON","SERPINA1","SFTPA1","SFTPA2","SFTPC","SGCG","SLC11A1","SLC12A6","SLC25A21","SLC26A9","SLC34A2","SLC6A14","SLC9A3","SMARCB1","SMARCE1","SMO","SMPD1","STAC3","STK36","STX1A","SUFU","SYNE1","SYT2","TERT","TGFB1","TINF2","TNFRSF13B","TNFRSF13C","TNFSF12","TNNC2","TNNT1","TOR1A","TOR1AIP1","TPM2","TPM3","TRAF7","TRAPPC11","TRIP4","TSC1","TSC2","TTN","UNC45B","VCP","WDR19","XYLT1","XYLT2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RAYNAUD_PHENOMENON":{"collection":"C5:HPO","systematicName":"M38422","pmid":"","exactSource":"HP:0030880","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030880","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RAYNAUD_PHENOMENON","geneSymbols":["ACP5","ADA2","ADAR","AGXT","BANK1","BLK","C4A","C4B","CLCNKB","COL4A1","COQ2","CR2","CTLA4","DNASE1","ETS1","FCGR2B","FCGR3B","GUCY1A1","HLA-DRB1","HRAS","IFIH1","IGHG1","IL10","IRAK1","IRF5","ITGAM","JAZF1","KIAA0319L","LBR","LMNA","LSM11","MECP2","PDCD1","PTPN22","PXK","RNASEH2A","RNASEH2B","RNASEH2C","RNF125","RNU7-1","SAMHD1","SAT1","SLC12A3","SPP1","STAT4","STING1","TLR7","TNFAIP3","TNFSF4","TNIP1","TREX1","UBE2L3","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CORONARY_ARTERY_ANEURYSM":{"collection":"C5:HPO","systematicName":"M38423","pmid":"","exactSource":"HP:0030882","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030882","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CORONARY_ARTERY_ANEURYSM","geneSymbols":["ABCG5","ABCG8","APOB","LDLR","LDLRAP1","PCSK9","PRKG1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPERINTENSITY_OF_CEREBRAL_WHITE_MATTER_ON_MRI":{"collection":"C5:HPO","systematicName":"M38424","pmid":"","exactSource":"HP:0030890","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030890","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERINTENSITY_OF_CEREBRAL_WHITE_MATTER_ON_MRI","geneSymbols":["ABCC9","ABHD16A","ACTA2","ACTL6B","AHCY","AKT3","ALG2","AP5Z1","ARSA","ATN1","B4GALNT1","CACNA1G","CAMK2A","CLN5","CLN8","CNBP","CNKSR2","CNP","COL4A1","CREBBP","CSF1R","CYP27A1","CYP7B1","DDHD2","DPYD","EP300","GAA","GFM2","GM2A","GNB2","HTRA1","LEMD2","LMNB1","MMACHC","MSTO1","MTOR","NEUROD2","NKX6-2","NOTCH3","NSUN3","ODC1","PAK1","PDP1","PI4KA","PIK3CA","PLP1","PRORP","PSAP","PUS3","PYCR2","RAB3GAP2","RARS1","RFT1","RPL10","SDHB","SELENOI","SLC18A3","SLC39A14","SPG11","SPG21","STRADA","SUOX","TM4SF20","TMEM222","TRAPPC12","TREX1","TRPM3","UBTF","WARS1","ZFYVE26"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PERIVENTRICULAR_WHITE_MATTER_HYPERINTENSITIES":{"collection":"C5:HPO","systematicName":"M38425","pmid":"","exactSource":"HP:0030891","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030891","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERIVENTRICULAR_WHITE_MATTER_HYPERINTENSITIES","geneSymbols":["ABCC9","ABHD16A","ACTA2","ACTL6B","AP5Z1","ARSA","CLN5","CNBP","CNKSR2","CNP","DDHD2","GM2A","GNB2","MMACHC","NEUROD2","PAK1","PRORP","PSAP","RAB3GAP2","RPL10","SELENOI","SPG21","STRADA","TMEM222","TRPM3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_GASTROINTESTINAL_MOTILITY":{"collection":"C5:HPO","systematicName":"M43488","pmid":"","exactSource":"HP:0030895","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030895","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_GASTROINTESTINAL_MOTILITY","geneSymbols":["AAAS","ACTA2","ACTB","ACTG2","ANO1","ATP1A2","ATP1A3","BRCA1","BRCA2","CACNA1A","CAMK2A","CAMK2B","CAVIN1","CDK4","CDKN2A","CEACAM3","CEACAM6","CFTR","CLCA4","CLMP","COL4A5","COL4A6","CPOX","DCTN4","DDIT3","DHCR7","EDNRA","ERBB3","EWSR1","FAH","FCGR2A","FLNA","FLVCR1","FOXP3","FUS","GCLC","GLA","GMPPA","GSTM3","GUCY1A1","GUCY2C","HFE","HMBS","HMGA2","HMOX1","HNRNPK","HSD17B10","IARS2","IDS","IVNS1ABP","KCNN4","KIF26A","KRAS","LIG3","LMOD1","MDM2","MEIS2","MIF","MT-CO1","MT-CO2","MT-CO3","MT-ND1","MT-ND4","MT-ND5","MT-ND6","MT-TF","MT-TH","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TW","MTRFR","MYH11","MYL9","MYLK","MYO1H","NUTM2B-AS1","PALB2","PALLD","PHOX2B","POLG","PPOX","PRDM12","RABL3","RAD21","RRM2B","SAMD9","SERPINA1","SGO1","SLC11A1","SLC18A3","SLC1A3","SLC26A9","SLC6A14","SLC6A8","SLC9A3","SMAD4","SMO","SON","SOX10","STAT3","STX1A","TANGO2","TGFB1","TP53","TRAPPC11","TWNK","TXN2","TYMP","UBR7","UNC45A","WFS1","WT1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_PERISTALSIS":{"collection":"C5:HPO","systematicName":"M38426","pmid":"","exactSource":"HP:0030914","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030914","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PERISTALSIS","geneSymbols":["AAAS","ACTA2","ACTB","ACTG2","CLMP","COL4A5","COL4A6","FLVCR1","GLA","GMPPA","GUCY1A1","IARS2","IVNS1ABP","LMOD1","MEIS2","MYH11","MYL9","MYLK","MYO1H","PHOX2B","RAD21","SAMD9","STAT3","TRAPPC11"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LOW_APGAR_SCORE":{"collection":"C5:HPO","systematicName":"M41528","pmid":"","exactSource":"HP:0030917","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030917","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOW_APGAR_SCORE","geneSymbols":["ALDH7A1","FGFR3","HERC2","LONP1","MAGEL2","MCTP2","MKRN3","MTM1","NPAP1","PDHA1","PLPBP","PNPO","PRPS1","PWAR1","PWRN1","SNORD115-1","SNORD116-1","USP9X"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LOW_1_MINUTE_APGAR_SCORE":{"collection":"C5:HPO","systematicName":"M46283","pmid":"","exactSource":"HP:0030918","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030918","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOW_1_MINUTE_APGAR_SCORE","geneSymbols":["FGFR3","HERC2","MAGEL2","MCTP2","MKRN3","MTM1","NPAP1","PRPS1","PWAR1","PWRN1","SNORD115-1","SNORD116-1","USP9X"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_GLOMERULAR_DEPOSITS":{"collection":"C5:HPO","systematicName":"M41530","pmid":"","exactSource":"HP:0030949","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030949","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GLOMERULAR_DEPOSITS","geneSymbols":["ARHGDIA","CD151","CEP83","CFH","CFHR5","COL4A3","COL4A4","COL4A5","COL7A1","DGKE","FN1","GATA3","LMX1B","MME","MMP1","NOS1AP","NUP107","RNU7-1","SPRY2","WDR19"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PULMONARY_VENOUS_HYPERTENSION":{"collection":"C5:HPO","systematicName":"M38427","pmid":"","exactSource":"HP:0030950","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030950","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PULMONARY_VENOUS_HYPERTENSION","geneSymbols":["FLNC","KCNN4","KIF20A","MYPN","PIEZO1","SLC37A4","SLC4A1","TNNI3","TNNT2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CONJUNCTIVAL_HYPEREMIA":{"collection":"C5:HPO","systematicName":"M45479","pmid":"","exactSource":"HP:0030953","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030953","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONJUNCTIVAL_HYPEREMIA","geneSymbols":["AP1G1","MAPT","NLRP3","SHMT2","TNFRSF1A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ALCOHOLISM":{"collection":"C5:HPO","systematicName":"M47256","pmid":"","exactSource":"HP:0030955","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030955","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ALCOHOLISM","geneSymbols":["ADH1B","ADH1C","BCOR","FIP1L1","GABRA2","HTR2A","HTT","IRF2BP2","LEMD3","NABP1","NPM1","NUMA1","PML","PRKAR1A","RARA","SGCE","SLC2A3","STAT3","STAT5B","TAS2R16","TBK1","TBL1XR1","TICAM1","TLR3","TRAF3","UNC93B1","ZBTB16"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_CARDIOVASCULAR_SYSTEM_ELECTROPHYSIOLOGY":{"collection":"C5:HPO","systematicName":"M38428","pmid":"","exactSource":"HP:0030956","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030956","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_CARDIOVASCULAR_SYSTEM_ELECTROPHYSIOLOGY","geneSymbols":["ABCA12","ABCA3","ABCC6","ABCC8","ABCC9","ABCG5","ABCG8","ACAD9","ACADM","ACADVL","ACTA1","ACTC1","ACTN2","ACY1","ADAMTS19","AGK","AGXT","AKAP9","AKT1","ALDOA","ALG10B","ALPK3","AMN","ANK2","APOB","APRT","ARSB","ASXL1","ATP1A2","ATP1A3","ATP5F1A","ATP5F1D","ATP5F1E","ATP5MK","ATP6V1A","ATP6V1E1","ATPAF1","ATPAF2","ATRX","BAG5","BANF1","BAZ1B","BCL7B","BMP2","BMP6","BPTF","BRAF","BRAT1","BRF1","BTNL2","BUD23","BVES","C1QBP","CACNA1A","CACNA1C","CACNA1D","CACNA1S","CACNA2D1","CACNB2","CALM1","CALM2","CALM3","CASQ2","CASR","CAV3","CAVIN1","CBL","CCND1","CDC45","CDC73","CDH2","CDH23","CDKN1A","CDKN1B","CDKN2A","CDKN2B","CDKN2C","CDON","CITED2","CIZ1","CLCF1","CLCNKB","CLIC2","CLIP2","CLN3","CNBP","COL4A1","COQ4","COQ9","COX7B","CPOX","CPT1A","CPT2","CREBBP","CRLF1","CRLS1","CRYAB","CSF2RA","CSF2RB","CSRP3","CTLA4","CTNNA3","CTNNB1","CUBN","DAXX","DBH","DCAF17","DEF6","DES","DHCR7","DISP1","DLL1","DLST","DMD","DMPK","DNAJC19","DNAJC30","DNMT3A","DOHH","DOLK","DPAGT1","DPP6","DSC2","DSC3","DSG2","DSP","DST","DTNA","DUOX2","DUOXA2","DYSF","ECE1","ECHS1","EFEMP2","EIF4H","ELN","ELP1","EMD","ENPP1","EP300","EPAS1","ERCC6","ERCC8","EXOSC5","EYA4","FBP1","FBXL4","FGF8","FGFR1","FH","FHL1","FHOD3","FKBP6","FLAD1","FLNC","FMO3","FNIP1","FOXC2","FOXH1","FXN","GAA","GABRA3","GALC","GAS1","GATA4","GATA5","GATA6","GATAD1","GBA1","GCGR","GDAP1","GFM2","GJA1","GJA5","GLA","GLI2","GLUL","GLYCTK","GMPPB","GNA11","GNAI2","GNAQ","GNAS","GNB2","GNB5","GPC3","GPC4","GPD1L","GPX4","GRIN1","GSN","GTF2I","GTF2IRD1","GTF2IRD2","GTPBP3","GYG1","HADH","HADHA","HADHB","HBB","HCCS","HCN4","HDAC4","HEPHL1","HESX1","HFE","HJV","HLA-B","HLA-DPA1","HLA-DPB1","HLA-DRB1","HMBS","HMGCL","HNF1A","HNF4A","HRAS","HSPG2","HTRA2","IDS","IFNG","IKZF1","IPO8","IRX5","ISCU","IYD","JAG2","JPH2","JUP","KCNA5","KCND3","KCNE1","KCNE2","KCNE3","KCNE5","KCNH2","KCNJ11","KCNJ18","KCNJ2","KCNJ3","KCNJ5","KCNJ8","KCNK3","KCNQ1","KCTD1","KIF1B","KIF20A","KIT","KLHL24","KRAS","KYNU","LAMA2","LAMA3","LAMB3","LAMC2","LAMP2","LARS2","LDB3","LDLR","LDLRAP1","LEMD2","LHX3","LHX4","LIMK1","LIPT1","LMNA","LMOD2","LPIN1","LRP1","LRP12","LRP6","LZTR1","MADD","MAX","MDH2","MECP2","MEFV","MEN1","METTL27","MFAP5","MGAT2","MGME1","MLXIPL","MMP14","MMP2","MRAS","MRPL12","MRPS14","MT-ATP6","MT-ATP8","MT-CO1","MT-CO2","MT-CO3","MT-CYB","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND4L","MT-ND5","MT-ND6","MT-TC","MT-TE","MT-TF","MT-TH","MT-TK","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TV","MT-TW","MTFMT","MTO1","MYBPC3","MYH6","MYH7","MYL2","MYL3","MYL4","MYLK2","MYO1H","MYOZ2","MYPN","MYRF","NAA10","NAXD","NCF1","NDUFA2","NDUFA8","NDUFAF1","NDUFB11","NDUFS2","NEU1","NEXN","NF1","NFIX","NKX2-5","NKX2-6","NODAL","NOS1AP","NPPA","NRAS","NUP155","OBSCN","P4HA2","PAX8","PCCA","PCCB","PCSK9","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PEX7","PGM1","PHOX2B","PHYH","PIGU","PIK3CA","PITX2","PKP2","PLCH1","PLEC","PLN","PLXND1","PNPLA2","POLG","POLG2","POMT2","POU1F1","PPA2","PPOX","PPP1CB","PRDM16","PRKAG2","PRKAR1A","PRKG2","PROP1","PRORP","PRTN3","PSAP","PSEN1","PSEN2","PSMB8","PSMD12","PTCH1","PTEN","PTPN11","PTPN22","PYGM","RAB3GAP2","RAF1","RANGRF","RASA2","RBM20","RET","RFC2","RHAG","RHCE","RHD","RIGI","RIT1","RMRP","RNASEH1","RNU12","RRAS","RRAS2","RRM2B","RYR1","RYR2","SALL4","SCN10A","SCN1B","SCN2B","SCN3B","SCN4A","SCN4B","SCN5A","SCN9A","SCNN1A","SCNN1B","SCNN1G","SCO1","SCO2","SCUBE3","SDHA","SDHAF1","SDHAF2","SDHB","SDHC","SDHD","SELENON","SEMA3A","SFTPB","SFTPC","SGCD","SGO1","SHH","SIX3","SLC12A3","SLC19A2","SLC1A3","SLC25A11","SLC25A20","SLC25A4","SLC2A10","SLC40A1","SLC4A3","SLC5A5","SLC6A8","SLMAP","SMAD3","SMC1A","SNTA1","SOS1","SOS2","SOX10","SPECC1L","SPRED1","SPRED2","SRSF2","SRY","STAG2","STIL","STX16","STX1A","SVIL","SYNE1","SYNE2","TAB2","TAFAZZIN","TANGO2","TBL2","TBX20","TBX3","TBX5","TCAP","TDGF1","TDP2","TECRL","TERT","TET2","TG","TGFB3","TGFBR1","TGFBR2","TGIF1","TLL1","TMEM126B","TMEM127","TMEM270","TMEM43","TMEM70","TNNC1","TNNI3","TNNI3K","TNNT2","TNXB","TOP3A","TOR1A","TOR1AIP1","TP53","TPM1","TPM2","TPM3","TPO","TRDN","TRPM4","TSC1","TSC2","TSHB","TSHR","TSPYL1","TTC26","TTN","TTPA","TTR","TWNK","UCP2","UQCRFS1","USP18","VEZF1","VHL","VPS33A","VPS37D","WAS","WIPF1","WIPI2","XK","YY1","ZIC2","ZNF699","ZNRF3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_MORPHOLOGY_OF_THE_GREAT_VESSELS":{"collection":"C5:HPO","systematicName":"M38429","pmid":"","exactSource":"HP:0030962","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030962","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MORPHOLOGY_OF_THE_GREAT_VESSELS","geneSymbols":["AASS","ABCC6","ABCC9","ABCD4","ABCG5","ABCG8","ABL1","ACSL4","ACTA2","ACTB","ACVR2B","ADA2","ADAMTS10","ADAMTS19","ADAR","ADAT3","ADH5","ADK","AEBP1","AFF4","AGGF1","AGO2","ALB","ALDH18A1","ALDH1A2","ALG12","ALG3","ALG5","ALG8","ALG9","ALX1","ALX3","AMER1","AMMECR1","ANGPTL6","ANK1","ANKS6","APC2","APOB","APOE","ARF1","ARFGEF2","ARHGAP31","ARID1A","ARID1B","ARID2","ARL6IP6","ARSL","ARVCF","ARX","ASCC1","ASXL2","ATN1","ATP2B1","ATP6V1A","ATP6V1B2","B3GALT6","B3GAT3","B3GLCT","BAP1","BAZ1B","BCL11B","BCL7B","BCOR","BCR","BGN","BICC1","BICRA","BMP2","BMPR1A","BMPR2","BPTF","BRAF","BRCA1","BRCA2","BRF1","BRIP1","BUB1","BUB1B","BUB3","BUD23","C12orf57","C2CD3","CACNA1C","CADM3","CALM3","CARS1","CASZ1","CBL","CCDC103","CCDC22","CCDC39","CCDC40","CCDC47","CCDC65","CCNO","CCNQ","CD96","CDC42","CDC42BPB","CDH2","CDK8","CDON","CEP120","CEP57","CFAP221","CFAP298","CFAP300","CFAP53","CFAP74","CFC1","CHD4","CHD7","CHRM3","CHRNG","CHST3","CHUK","CIROP","CITED2","CLCN7","CLIP2","CNTN1","COA6","COG6","COL18A1","COL1A1","COL1A2","COL3A1","COL5A1","COL5A2","COMT","COQ4","COX7B","CPLANE1","CREBBP","CRELD1","CRKL","CRTAP","CSGALNACT1","CTCF","CTU2","CUX1","CWC27","CXCR2","CXCR4","CYP7A1","DACT1","DDX11","DDX3X","DDX59","DGCR2","DGCR6","DGCR8","DHCR24","DHCR7","DIS3L2","DISP1","DLK1","DLL1","DLL3","DLL4","DMPK","DNAAF1","DNAAF11","DNAAF2","DNAAF3","DNAAF4","DNAAF5","DNAAF6","DNAH1","DNAH11","DNAH5","DNAH9","DNAI1","DNAI2","DNAJB11","DNAJB13","DNAJC30","DNAL1","DNMT3A","DOCK6","DOHH","DPF2","DPH5","DPM1","DPYSL5","DRC1","DTNA","DVL3","DYNC2LI1","DYRK1A","ECE1","EED","EFEMP2","EGFR","EHMT1","EIF2AK3","EIF2AK4","EIF4H","ELN","EMILIN1","ENG","ENPP1","EOGT","EP300","ERCC4","ERCC6","ERCC8","ERMARD","ESCO2","ESS2","EXT2","EZH2","FADD","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FBLN5","FBN1","FBN2","FGF10","FGF8","FGFR1","FGFR2","FGFR3","FIG4","FKBP14","FKBP6","FKTN","FLI1","FLNA","FLNB","FLT4","FMR1","FOCAD","FOXC1","FOXC2","FOXE3","FOXF1","FOXH1","FOXJ1","FOXP2","FRA10AC1","FTO","FUT8","G6PC3","GABRD","GANAB","GAS1","GAS2L2","GAS8","GATA1","GATA4","GATA5","GATA6","GBA1","GDF1","GJA1","GJA5","GJA8","GLB1","GLI2","GLI3","GLYCTK","GNA11","GNB2","GNPAT","GP1BB","GPC3","GPC4","GPC6","GTF2I","GTF2IRD1","GTF2IRD2","HACD1","HCCS","HDAC4","HEATR3","HES7","HEY2","HGD","HIBCH","HIRA","HLA-B","HLA-DRB1","HNRNPK","HPGD","HRAS","HSPG2","HTRA2","HYDIN","HYMAI","IDS","IFIH1","IFNG","IFT140","IFT27","IFT43","IGBP1","IGF2","IL12B","INTU","IPO8","ITPR1","JAG1","JMJD1C","KANSL1","KAT6A","KAT6B","KAT8","KCNAB2","KCNE5","KCNH1","KCNJ8","KCNN3","KCNQ2","KCNT1","KDM3B","KDM6A","KDR","KMT2A","KMT2B","KMT2D","KRAS","KYNU","LARS2","LDLR","LDLRAP1","LFNG","LIFR","LIMK1","LMBRD1","LMNA","LMX1B","LOX","LRPPRC","LRRC56","LSM11","LTBP1","LTBP4","LUZP1","LZTR1","MAD2L2","MAF","MAP1B","MAP2K1","MAP3K7","MAPK1","MAPKAPK5","MASP1","MAT2A","MCIDAS","MCTP2","MED11","MED12","MED13L","MED25","MEG3","MEGF8","MEIS2","MESP2","METTL27","MFAP5","MGAT2","MGP","MID1","MKKS","MKS1","MLX","MLXIPL","MMP14","MMP2","MMP21","MMP23B","MRAS","MRPS16","MYCN","MYH11","MYH3","MYH7","MYLK","MYOCD","MYPN","MYRF","NAA10","NAA20","NADSYN1","NAE1","NCAPG2","NCF1","NDUFB11","NEDD4L","NEK10","NEK8","NEK9","NF1","NFIX","NIPA1","NIPA2","NKAP","NKX2-5","NKX2-6","NME5","NME8","NOD2","NODAL","NONO","NOTCH1","NOTCH2","NOTCH3","NPHP3","NPR3","NR2F2","NRAS","NSD1","NSMCE2","NXN","OCLN","ODAD1","ODAD2","ODAD3","ODAD4","OFD1","OSGEP","OTUD5","P4HA2","PACS1","PAH","PAK2","PALB2","PCGF2","PCNT","PCSK9","PDPN","PEX1","PEX19","PGM1","PGM3","PHGDH","PIGA","PIGL","PIGN","PIGO","PIGT","PIK3R2","PKD1","PKD1L1","PKD2","PLAGL1","PLCB1","PLCB3","PLCH1","PLD1","PLOD1","PLXND1","POGZ","POLA1","POLR1A","POLR1B","POLR1C","POLR1D","PORCN","PPFIBP1","PPP1CB","PPP2R1A","PQBP1","PRDM13","PRDM16","PRDM6","PRIM1","PRKACB","PRKCD","PRKCZ","PRKG1","PSMD12","PTCH1","PTEN","PTH1R","PTPN11","PTPN22","PUF60","QRICH1","RAB23","RAC1","RAD21","RAD51","RAD51C","RAF1","RAI1","RASA2","RBM10","RBM8A","RBP4","RBPJ","RERE","RFC2","RFWD3","RIN2","RIPPLY2","RIT1","RNASEH2A","RNASEH2B","RNASEH2C","RNU4ATAC","RNU7-1","ROBO1","ROBO4","ROR2","RPGR","RPL10","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS7","RRAS","RRAS2","RREB1","RSPH1","RSPH3","RSPH4A","RSPH9","RSPO2","RSPRY1","RTL1","SALL1","SALL4","SAMD9","SAMHD1","SCN1A","SCN2A","SEC24C","SEMA3E","SETD2","SF3B2","SF3B4","SFTPB","SH3PXD2B","SHANK3","SHH","SIK3","SIX3","SIX6","SKI","SKIC2","SKIC3","SLC12A5","SLC25A22","SLC25A24","SLC29A3","SLC2A10","SLC34A2","SLC35A2","SLC37A4","SLX4","SMAD2","SMAD3","SMAD4","SMAD6","SMARCA2","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SMC1A","SMC3","SMC5","SMG8","SMG9","SMOC1","SNRPB","SNRPN","SNX10","SNX14","SON","SOS1","SOS2","SOX11","SOX2","SOX4","SPAG1","SPECC1L","SPEF2","SPEN","SPRED2","SPTBN1","SRCAP","SRY","SSR4","STAG2","STIL","STK36","STRA6","STX1A","STXBP1","SUCLG1","SUFU","SUPT16H","TAB2","TALDO1","TAOK1","TBC1D24","TBL2","TBX1","TBX2","TBX20","TBX4","TBX5","TCIRG1","TCOF1","TDGF1","TELO2","TFAP2B","TGDS","TGFB2","TGFB3","TGFBR1","TGFBR2","TGFBR3","TGIF1","THOC6","THSD1","THSD4","TKT","TLL1","TMCO1","TMEM260","TMEM270","TMEM94","TMTC3","TNFSF11","TNNT2","TP63","TPM2","TPM3","TRAF7","TRAIP","TREX1","TRIO","TRIP11","TRIP13","TRIP4","TRPV6","TRRAP","TSC1","TSC2","TSFM","TSR2","TTC12","TTC26","TUBG1","TWIST1","UBE2A","UBE2T","UBE3B","UBE4B","UBR7","UFC1","UFD1","UMPS","UNC45B","UQCRFS1","USP18","USP9X","VAC14","VPS33A","VPS35L","VPS37D","WAC","WASHC5","WDPCP","WDR26","WDR35","WDR37","WLS","WNT4","WRN","WT1","XRCC2","YY1","YY1AP1","ZBTB7A","ZEB2","ZFPM2","ZIC2","ZIC3","ZMIZ1","ZMPSTE24","ZMYM2","ZMYND10","ZNF148","ZNF462","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_SYSTEMIC_BLOOD_PRESSURE":{"collection":"C5:HPO","systematicName":"M38430","pmid":"","exactSource":"HP:0030972","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030972","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SYSTEMIC_BLOOD_PRESSURE","geneSymbols":["AAAS","ABCA3","ABCB4","ABCB6","ABCC6","ABCD3","ABCG5","ABCG8","ACAT1","ACE","ACP5","ACTA2","ACTG2","ACTN4","ACVRL1","ADA2","ADAMTSL4","ADD1","AGT","AGTR1","AIP","ALB","ALG5","ALG9","ALMS1","ALX4","ANGPTL6","APOA1","APOB","APRT","ARHGAP31","ARL6","ARMC5","ARSA","ARVCF","ASXL1","ATP1B1","ATP7A","ATRX","AVPR2","B2M","BANF1","BANK1","BAZ1B","BBIP1","BBS1","BBS10","BBS12","BBS2","BBS4","BBS5","BBS7","BBS9","BCL7B","BICC1","BLK","BMP6","BMPR2","BNC2","BRAF","BRCA2","BRCC3","BSCL2","BSND","BTNL2","BUD23","C3","C4A","C4B","CACNA1D","CACNA1H","CALR","CASR","CAV1","CBL","CBS","CC2D2A","CCDC28B","CCN2","CCND1","CCR6","CD2AP","CD46","CDH23","CDKN1A","CDKN1B","CDKN2A","CDKN2B","CDKN2C","CELA2A","CEP164","CEP19","CEP290","CEP83","CFAP418","CFB","CFH","CFHR1","CFHR3","CFI","CHCHD2","CHRNA3","CIDEC","CLCN2","CLCNKA","CLCNKB","CLDN1","CLIP2","COL1A1","COL3A1","COL4A3","COL4A4","COL4A5","COL5A1","COL5A2","COMT","COQ2","COQ7","CORIN","CPOX","CR2","CTLA4","CTNNB1","CUL3","CYB561","CYP11A1","CYP11B1","CYP11B2","CYP17A1","CYP21A2","CYP3A5","DAXX","DBH","DCDC2","DCTN1","DDC","DEF6","DGUOK","DHCR7","DIS3L2","DLL4","DLST","DNAJB11","DNAJC13","DNAJC30","DNASE1","DNMT3A","DOCK6","DST","DYRK1B","DZIP1L","ECE1","EDA","EDA2R","EGFR","EIF4G1","EIF4H","ELN","ELP1","ENG","ENPP1","EOGT","EPAS1","EPOR","ERCC4","ERCC6","ERCC8","ETS1","EXOSC2","EXT2","F5","FARSB","FBN1","FCGR2B","FCGR3B","FGA","FGFR2","FH","FIG4","FKBP6","FLT1","FMO3","FMR1","FN1","FOXA2","FOXE3","FUZ","G6PC1","GANAB","GATA5","GBA1","GBE1","GCH1","GDF2","GEMIN4","GIGYF2","GIMAP5","GLA","GLI2","GLIS3","GMPPA","GNA11","GNAS","GNB2","GNB3","GP1BB","GPC3","GPR101","GPR35","GSN","GTF2I","GTF2IRD1","GTF2IRD2","GUCY1A1","H19","H4C3","HADHB","HBB","HELLPAR","HESX1","HEXB","HEY2","HFE","HGD","HIRA","HLA-B","HLA-DPA1","HLA-DPB1","HLA-DRB1","HMBS","HMGCL","HMOX1","HNRNPK","HPSE2","HSD11B2","HSD3B2","HTRA1","IDS","IDUA","IFIH1","IFNG","IFT140","IFT172","IFT27","IFT74","IGHG1","IL10","IL12A","IL12B","IL12RB1","IMPDH2","INF2","INPP5E","INVS","IQCB1","IRAK1","IRF4","IRF5","ITCH","ITGA8","ITGAM","JAK2","JAZF1","JMJD1C","KCNJ1","KCNJ10","KCNJ5","KCTD1","KIAA0319L","KIF12","KIF1B","KIT","KLHL3","KRT18","KYNU","LAMB2","LARS2","LBX1","LDLR","LDLRAP1","LEMD3","LEP","LEPR","LHX4","LIMK1","LIPA","LIPE","LMNA","LMNB1","LMX1B","LOX","LRIG2","LRP6","LRPPRC","LRRK2","LYZ","LZTFL1","MAFB","MAT2A","MAX","MBTPS2","MC2R","MC4R","MDH2","MDM2","MECP2","MED12","MEF2A","MEN1","METTL27","MFAP5","MGP","MKKS","MKS1","MLX","MLXIPL","MMEL1","MMP14","MMP2","MPI","MPL","MRAP","MST1","MT-CO1","MT-CO2","MT-CO3","MT-CYB","MT-ND1","MT-ND5","MT-ND6","MT-TC","MT-TE","MT-TF","MT-TK","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TV","MT-TW","MTFMT","MTRR","MUC1","MYH11","MYLK","MYMK","MYMX","NAF1","NCF1","NDUFAF6","NEUROG3","NF1","NFIX","NFKB2","NKX2-5","NNT","NOD2","NOS3","NOTCH1","NOTCH2","NOTCH3","NPHP1","NPHP3","NPHP4","NR3C1","NR3C2","NR4A2","NSMCE2","NTRK1","OFD1","OSGEP","OTX2","PAM16","PAX2","PBX1","PCSK9","PDCD1","PDE11A","PDE3A","PDE4D","PHF21A","PIGA","PIGM","PKD1","PKD2","PKHD1","PLIN1","POR","POU1F1","POU2AF1","POU3F4","POU6F2","PPARG","PPOX","PRIM1","PRKACA","PRKAG2","PRKAR1A","PRKG1","PROP1","PRTN3","PSAP","PTGIS","PTPN22","PXK","RBPJ","REN","REST","RET","RFC2","RGS5","RNU4ATAC","RNU7-1","RPGRIP1L","RREB1","RUNX1","RYR1","SAA1","SCAPER","SCLT1","SCN2B","SCNN1A","SCNN1B","SCNN1G","SDCCAG8","SDHA","SDHAF2","SDHB","SDHC","SDHD","SEC24C","SEMA4D","SERPINA6","SERPING1","SFTPB","SFTPC","SH2B3","SHPK","SIM1","SLC12A1","SLC12A3","SLC25A11","SLC25A20","SLC2A10","SLC30A10","SLC30A9","SLC35A2","SLC37A4","SMAD2","SMAD3","SMAD4","SMAD6","SMARCAL1","SNCA","SOX10","SOX3","SP110","SPG11","SPIB","SPP1","SPRY2","SRSF2","STAR","STAT1","STAT2","STAT4","STN1","STOX1","STX1A","SUGCT","TBL2","TBX1","TBX19","TCF4","TERT","TET2","TGFB2","TGFB3","TGFBR1","TGFBR2","TGFBR3","THBD","THSD1","THSD4","TJP2","TLR7","TMEM127","TMEM237","TMEM270","TMEM67","TMEM70","TNFAIP3","TNFRSF11A","TNFRSF11B","TNFSF15","TNFSF4","TNIP1","TNNT2","TNPO3","TOM1","TP53","TRAF3IP1","TREX1","TRIM28","TRIM32","TRIP13","TRPC6","TSC1","TSC2","TTC26","TTC8","TTR","TULP3","TXNRD2","UBE2L3","UBR1","UFD1","USP48","USP8","VAC14","VANGL1","VHL","VPS35","VPS37D","WDPCP","WDR19","WDR35","WNK1","WNK4","WRN","WT1","XPNPEP3","XYLT1","XYLT2","YY1AP1","ZFYVE19","ZMPSTE24","ZNRF3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_POSTEXERTIONAL_SYMPTOM_EXACERBATION":{"collection":"C5:HPO","systematicName":"M41531","pmid":"","exactSource":"HP:0030973","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030973","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POSTEXERTIONAL_SYMPTOM_EXACERBATION","geneSymbols":["BICD2","COL9A1","COL9A2","COL9A3","COMP","KCNE1","KCNQ1","NPPA","PYGL","PYGM","SCN5A","SLC22A12","SLC2A9","SVIL"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CRYPTOZOOSPERMIA":{"collection":"C5:HPO","systematicName":"M43490","pmid":"","exactSource":"HP:0030974","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030974","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CRYPTOZOOSPERMIA","geneSymbols":["CATIP","MEIOB","NR5A1","SYCP2","TDRD9","TEX15"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_SERUM_BILE_ACID_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M46285","pmid":"","exactSource":"HP:0030984","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030984","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SERUM_BILE_ACID_CONCENTRATION","geneSymbols":["ABCB11","ABCB4","ABCD3","AKR1D1","AMACR","AP1B1","ATP8B1","CCDC47","DNAJC21","DZIP1L","EFL1","KIF12","MYO5B","NR1H4","PKHD1","SBDS","SEMA7A","SLC10A1","SLC25A13","SLC2A2","SLC51B","SRP54","TALDO1","TJP2","UNC45A","VPS33B","VPS50"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SCLEROSING_CHOLANGITIS":{"collection":"C5:HPO","systematicName":"M38431","pmid":"","exactSource":"HP:0030991","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0030991","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SCLEROSING_CHOLANGITIS","geneSymbols":["ABCB4","CD40LG","CIITA","CLDN1","DCDC2","KIF12","REL","RFX5","RFXANK","RFXAP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ACROPARESTHESIA":{"collection":"C5:HPO","systematicName":"M43491","pmid":"","exactSource":"HP:0031006","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031006","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACROPARESTHESIA","geneSymbols":["COMP","GALC","HEXB","LMX1B","PMP22","PRNP","SLC26A2","SPTLC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LINGUAL_DYSTONIA":{"collection":"C5:HPO","systematicName":"M41532","pmid":"","exactSource":"HP:0031008","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031008","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LINGUAL_DYSTONIA","geneSymbols":["ATP13A2","GNAL","NGLY1","THAP1","VPS13A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ANKYLOSIS":{"collection":"C5:HPO","systematicName":"M38432","pmid":"","exactSource":"HP:0031013","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031013","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANKYLOSIS","geneSymbols":["ADGRG6","ENPP1","FGFR1","FGFR2","GDF5","GNAI3","GNAS","MBTPS2","MMP2","MUSK","NOG","PERP","POR","PTDSS1","TNFRSF11B","TRPV3","WNT7A","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ARTERIA_LUSORIA":{"collection":"C5:HPO","systematicName":"M43492","pmid":"","exactSource":"HP:0031014","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031014","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ARTERIA_LUSORIA","geneSymbols":["DDX6","KNSTRN","NKX2-6","PIK3CD","PLD1","PLXND1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BONE_MARROW_HYPERCELLULARITY":{"collection":"C5:HPO","systematicName":"M38433","pmid":"","exactSource":"HP:0031020","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031020","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BONE_MARROW_HYPERCELLULARITY","geneSymbols":["ASXL1","BCOR","CALR","CASP10","CXCR4","FAS","FASLG","FIP1L1","IRF2BP2","JAK2","KIT","MPL","NABP1","NPM1","NUMA1","PML","PRKAR1A","PRKCD","RARA","RASGRP1","RPS14","SLC7A7","SRC","SRSF2","STAT3","STAT5B","TBL1XR1","TET2","ZBTB16"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CHRONIC_INFECTION":{"collection":"C5:HPO","systematicName":"M38434","pmid":"","exactSource":"HP:0031035","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031035","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHRONIC_INFECTION","geneSymbols":["BCHE","BCOR","CARD9","CLCN7","FIP1L1","HBB","IRF2BP2","MAGT1","NABP1","NPM1","NUMA1","PLEKHM1","PML","PRKAR1A","RARA","RPS14","SF3B1","STAT3","STAT5B","TBL1XR1","TCIRG1","TET2","ZBTB16"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SPERMATOGENESIS_MATURATION_ARREST":{"collection":"C5:HPO","systematicName":"M45480","pmid":"","exactSource":"HP:0031038","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031038","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPERMATOGENESIS_MATURATION_ARREST","geneSymbols":["M1AP","MOV10L1","MSH5","PNLDC1","SYCE1","TDRD9","TERB1","TERB2","TEX11","XRCC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ACRAL_BLISTERING":{"collection":"C5:HPO","systematicName":"M43493","pmid":"","exactSource":"HP:0031045","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031045","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACRAL_BLISTERING","geneSymbols":["COL17A1","COL7A1","FBXO28","FERMT1","ITGB4","KRT14","KRT5","PLEC","SMARCAD1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_IMPAIRMENT_OF_ACTIVITIES_OF_DAILY_LIVING":{"collection":"C5:HPO","systematicName":"M38435","pmid":"","exactSource":"HP:0031058","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031058","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRMENT_OF_ACTIVITIES_OF_DAILY_LIVING","geneSymbols":["ABCD1","ACSF3","ADNP","AKT1","ALDH18A1","ALMS1","ALS2","AP5Z1","ARSA","ARVCF","ARX","ATL1","ATL3","ATP13A2","ATXN10","ATXN2","ATXN8OS","AUH","BAP1","BCR","BIN1","BNC2","CABP4","CACNA1G","CACNA1H","CAPN1","CCL2","CDKN1A","CDKN1B","CDKN2B","CDKN2C","CFAP43","CHMP2B","CHRNA2","CHRNA4","CHRNB2","CLCNKB","COG5","COL2A1","COMT","COPB1","COQ2","CPT1C","CRH","CRKL","CYP7B1","DACT1","DDHD2","DEPDC5","DKK1","DMPK","DNM2","DNMT1","DPH5","DPYSL5","DSTYK","EIF2AK2","EXT2","FA2H","FAR1","FARS2","FGFR3","FITM2","FLVCR1","FMR1","FRMD5","FUS","FUZ","GAA","GABRA1","GABRB3","GABRG2","GALC","GALNT2","GBA2","GBE1","GGT1","GJC2","GP1BB","HACE1","HEXB","HIRA","HLA-DQB1","HLA-DRB1","HMBS","HPSE2","HS6ST2","HSPD1","HTRA1","IFT57","IGHMBP2","ISL1","JMJD1C","JRK","KCNC3","KCND3","KCNT1","KIF5A","KMT2B","KY","LMNB1","LRIG2","MAPK1","MAPK8IP3","MEN1","MNX1","MORC2","MTMR14","MYF6","MYO1H","NEFL","NEXMIF","NF2","NGF","NIPA1","NOP56","NOTCH2NLC","NOTCH3","PANK2","PDCD1","PDGFB","PDGFRB","PEX11B","PIGF","PIK3CA","PLP1","POLR3B","POT1","PRDM8","PSAP","RETREG1","RNF170","RREB1","RSRC1","RTN2","RYR1","SACS","SALL1","SBF1","SCN4A","SCN9A","SEC24C","SIGMAR1","SLC12A3","SLC1A4","SLC20A2","SLC2A1","SLC44A1","SLC9A6","SMARCB1","SMARCE1","SMO","SPAST","SPG11","SPG7","SPTLC1","SPTLC2","SQSTM1","STUB1","SUFU","SYNE1","TBCD","TBP","TBX1","TBXT","TERT","TIMM50","TP63","TRAF7","TRIO","TRPV4","TTR","TYROBP","UBAP1","UFD1","VANGL1","VANGL2","VCP","WASHC5","ZC4H2","ZEB2","ZFYVE26","ZMYM2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_OVARIAN_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M38436","pmid":"","exactSource":"HP:0031065","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031065","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_OVARIAN_MORPHOLOGY","geneSymbols":["AGPAT2","AKT1","AKT2","ALG9","ALMS1","ANTXR2","AR","ARL6","ATM","BAZ1B","BBIP1","BBS1","BBS10","BBS12","BBS2","BBS4","BBS5","BBS7","BBS9","BCL7B","BMP15","BNC1","BSCL2","BUD23","C14orf39","CAV1","CAVIN1","CBX2","CEP19","CEP290","CFAP418","CHD7","CIDEC","CLIP2","CLPP","CORIN","CYB5A","CYP11B1","CYP17A1","CYP19A1","DCAF17","DHH","DHX37","DMRT1","DMRT3","DNAJC30","DUSP6","EIF4H","ELN","ERAL1","ESR1","F7","FGF17","FGF8","FGFR1","FIGLA","FKBP6","FLT1","FOS","FOXL2","FSHR","GATA4","GNAS","GNRH1","GNRHR","GTF2I","GTF2IRD1","GTF2IRD2","HARS2","HFM1","HNF1A","HS6ST1","IFT172","IFT27","IFT74","INSR","KISS1","KISS1R","KLLN","LARS2","LEP","LEPR","LHB","LIMK1","LIPE","LMNA","LMNB2","LZTFL1","MAP3K1","MCM8","METTL27","MID1","MKKS","MKS1","MLXIPL","MMP14","MMP2","MRPS22","MSH3","MSH4","MSX1","MT-CYB","NCF1","NDNF","NHLH2","NOBOX","NPHP1","NR0B1","NR5A1","NSMF","NTHL1","NUP107","OFD1","PANX1","PATL2","PAX6","PDE11A","PHKA2","PHKB","PHKG2","PIK3CA","PIK3R1","PLIN1","PMM2","POLR3H","POR","PPARG","PPP1R12A","PRKAR1A","PRLR","PROK2","PROKR2","PSMC3IP","PTEN","PTPN11","RFC2","SCAPER","SCLT1","SDCCAG8","SDHB","SDHC","SDHD","SEC23B","SETBP1","SETD2","SLC37A4","SOX3","SOX9","SPIDR","SPRY4","SRY","STAG3","STK11","STOX1","STX1A","TAC3","TACR3","TBL2","TBX1","TMEM270","TP63","TRIM32","TRPV6","TTC8","TUBB8","USF3","VAMP7","VPS37D","WDPCP","WDR11","WEE2","WT1","WWOX","ZFPM2","ZPR1","ZSWIM7"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_OVARIAN_PHYSIOLOGY":{"collection":"C5:HPO","systematicName":"M38437","pmid":"","exactSource":"HP:0031066","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031066","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_OVARIAN_PHYSIOLOGY","geneSymbols":["AARS2","AGK","AIP","AIRE","ANAPC1","ANAPC7","ATM","B4GALNT1","BLM","BMP15","BMP4","BNC1","C14orf39","CASP10","CDH23","CEP164","CEP290","CHD7","CHP1","COL25A1","DCAF17","DIAPH2","DUSP6","EIF2B1","EIF2B2","ERAL1","ERCC4","FAS","FASLG","FGF17","FGF8","FGFR1","FIGLA","FMR1","FOXL2","FSHB","FSHR","GALK1","GALT","GGPS1","GNRH1","GNRHR","HFM1","HS6ST1","HSF2BP","INVS","IQCB1","KISS1","KISS1R","LARS2","LMNA","MCM3AP","MCM8","MEN1","MRPS22","MSH4","NBN","NHLH2","NOBOX","NPHP1","NPHP3","NPHP4","NR5A1","NSMF","NUP107","PMM2","POF1B","POLG","POLG2","POLR3H","PRKCD","PRLR","PROK2","PROKR2","PSMC3IP","RASGRP1","RCBTB1","RIN2","SDCCAG8","SPIDR","SPRY4","STAG3","TAC3","TACR3","THOC6","TRAF3IP1","TTI2","TWNK","WDR11","WDR19","XRCC2","ZFHX4","ZMPSTE24","ZSWIM7"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_FEMORAL_TORSION":{"collection":"C5:HPO","systematicName":"M46286","pmid":"","exactSource":"HP:0031069","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031069","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FEMORAL_TORSION","geneSymbols":["ACTB","CRTAP","FIBP","KIFBP","MADD","P3H1","PI4KA","SLC26A2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_ENDOCRINE_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M47257","pmid":"","exactSource":"HP:0031071","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031071","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ENDOCRINE_MORPHOLOGY","geneSymbols":["ABCC6","ABCD1","ADA","ADH5","AIRE","APC","ARMC5","ATP6V1B2","ATRX","BCAP31","BMP4","BRAF","CACNA1D","CACNA1S","CCDC22","CCND1","CDH23","CDKN1A","CDKN1B","CDKN1C","CDKN2A","CDKN2B","CDKN2C","CDON","CHEK2","CILK1","CLCN2","CTNNB1","CYP11A1","CYP11B1","CYP11B2","CYP17A1","CYP21A2","DLST","DNMT3A","DPYSL5","ENPP1","EPAS1","FH","GK","GLI3","GNAS","GPR161","HESX1","HSD3B2","HYLS1","IDH1","IDH2","IGF2","KCNE3","KCNJ5","KCNQ1","KCNQ1OT1","KIF1B","LHX4","LIPA","LMNA","LTBP4","MAX","MDH2","MDM2","MEN1","MKS1","MTHFR","NF1","NKX2-6","NR0B1","NR3C1","NSDHL","NUAK2","PDE11A","PDE8B","PEX1","PLXND1","POLE","POMC","POR","PRKACA","PRKAR1A","PROKR2","PTEN","RET","ROBO1","SAMD9","SCN4A","SDHA","SDHAF2","SDHB","SDHC","SDHD","SIX3","SLC25A11","STAR","TBC1D24","TBC1D7","TBX19","TERT","TMEM127","TNXB","TP53","USP48","USP8","VANGL2","VHL","VPS35L","WASHC5","WDR11","WNT3","WNT4","YY1","ZMPSTE24","ZNRF3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_RESPONSE_TO_ENDOCRINE_STIMULATION_TEST":{"collection":"C5:HPO","systematicName":"M47258","pmid":"","exactSource":"HP:0031073","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031073","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RESPONSE_TO_ENDOCRINE_STIMULATION_TEST","geneSymbols":["ABCC8","ACP5","ADAT3","ADNP","AFF4","AIP","AKT1","ALMS1","ARMC5","ARNT2","BAP1","BPTF","BRCC3","BTK","CDH23","CDKN1C","CDON","CEP57","CHD7","CTSK","CYP17A1","DCAF17","DISP1","DLL1","DNAJC21","DYRK1A","EFL1","EIF2S3","ESCO2","FANCF","FANCI","FEZF1","FGF8","FGFR1","FLNB","FOXA2","FOXH1","GAS1","GH1","GHRHR","GHSR","GLI2","GLI3","GMNN","GNAS","GNB2","GRB10","GRM7","HERC2","HESX1","HNF1A","HSD3B2","IARS2","IGF2","KANSL1","KATNIP","KCNJ11","KIAA0753","KMT2A","LEPR","LHX3","LHX4","MADD","MAGEL2","MAP2K2","MC2R","MED12","MEN1","MKRN3","MPDU1","MRAP","NDN","NF2","NFKB2","NHLH2","NKX2-1","NNT","NODAL","NPAP1","OCA2","OTX2","PCSK1","PDGFB","PIK3CA","PITX2","PLCH1","PNPLA6","POLE","POLR3A","POLR3GL","POMC","POR","POU1F1","POU3F4","PREPL","PRKAR1A","PROP1","PSMD12","PTCH1","PWAR1","PWRN1","RBM28","RFWD3","RNPC3","RRAS2","SBDS","SHH","SIN3A","SIX3","SLC29A3","SLC7A7","SMARCB1","SMARCE1","SMC1A","SMO","SNORD115-1","SNORD116-1","SNRPN","SOX11","SOX3","SRD5A3","SRP54","STAG2","STAR","STAT5B","STIL","STX16","SUFU","TBCE","TBCK","TBX2","TDGF1","TERT","TGIF1","THOC2","TMCO1","TMEM67","TP63","TRAF7","TXNRD2","UCP2","VPS13B","WASHC5","WDR4","YY1","ZIC2","ZNF148"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_RESPONSE_TO_ACTH_STIMULATION_TEST":{"collection":"C5:HPO","systematicName":"M43495","pmid":"","exactSource":"HP:0031074","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031074","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RESPONSE_TO_ACTH_STIMULATION_TEST","geneSymbols":["CYP17A1","MC2R","NFKB2","POR","RBM28","TXNRD2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_RESPONSE_TO_INSULIN_TOLERANCE_TEST":{"collection":"C5:HPO","systematicName":"M43496","pmid":"","exactSource":"HP:0031075","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031075","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RESPONSE_TO_INSULIN_TOLERANCE_TEST","geneSymbols":["GHRHR","LHX4","MC2R","MRAP","NNT","POU1F1","STAR","TXNRD2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_IMPAIRED_CORTISOL_RESPONSE_TO_INSULIN_STIMULATION_TEST":{"collection":"C5:HPO","systematicName":"M45481","pmid":"","exactSource":"HP:0031076","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031076","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRED_CORTISOL_RESPONSE_TO_INSULIN_STIMULATION_TEST","geneSymbols":["MC2R","MRAP","NNT","STAR","TXNRD2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_RESPONSE_TO_GLUCAGON_STIMULATION_TEST":{"collection":"C5:HPO","systematicName":"M45482","pmid":"","exactSource":"HP:0031080","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031080","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RESPONSE_TO_GLUCAGON_STIMULATION_TEST","geneSymbols":["ABCC8","HNF1A","KCNJ11","MED12","UCP2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DECREASED_PREALBUMIN_LEVEL":{"collection":"C5:HPO","systematicName":"M38440","pmid":"","exactSource":"HP:0031085","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031085","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_PREALBUMIN_LEVEL","geneSymbols":["CRLF1","FOXP3","HLA-DQA1","HLA-DQB1","NOS1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_HUMERUS_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M38441","pmid":"","exactSource":"HP:0031095","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031095","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_HUMERUS_MORPHOLOGY","geneSymbols":["ATP7A","B3GALT6","BMP1","COL2A1","CREB3L1","FLNB","GNPTAB","KIAA0753","LAMA5","LBR","LYSET","PRKG2","RNU4ATAC","RSPO2","SLC26A2","SPARC","SRCAP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_THYROID_STIMULATING_HORMONE_LEVEL":{"collection":"C5:HPO","systematicName":"M41534","pmid":"","exactSource":"HP:0031097","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031097","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_THYROID_STIMULATING_HORMONE_LEVEL","geneSymbols":["ALB","ALMS1","CDH23","CPE","DCAF17","DMXL2","DUOX2","DUOXA2","GLIS3","GNAS","HESX1","IGSF1","IRS4","IYD","KCNJ18","LHX3","LHX4","MRPS7","NKX2-1","NKX2-5","OTX2","PAX8","PDGFRB","PLVAP","PMM2","POU1F1","PRKAR1A","PROP1","PSMB8","ROBO1","SECISBP2","SLC16A2","SLC25A36","SLC35A2","SLC5A5","SMARCAL1","SMC5","TBL1X","TG","THRB","TPO","TRHR","TSHB","TSHR"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DECREASED_THYROID_STIMULATING_HORMONE_LEVEL":{"collection":"C5:HPO","systematicName":"M43497","pmid":"","exactSource":"HP:0031098","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031098","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_THYROID_STIMULATING_HORMONE_LEVEL","geneSymbols":["CPE","HESX1","KCNJ18","LHX3","LHX4","OTX2","POU1F1","PROP1","ROBO1","TSHB","TSHR"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DECREASED_INHIBIN_B_LEVEL":{"collection":"C5:HPO","systematicName":"M47259","pmid":"","exactSource":"HP:0031100","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031100","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_INHIBIN_B_LEVEL","geneSymbols":["MAGEL2","NDN","OCA2","POR","SNRPN","XRCC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CIRCULATING_ANTIMULLERIAN_HORMONE_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M45483","pmid":"","exactSource":"HP:0031101","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031101","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_ANTIMULLERIAN_HORMONE_CONCENTRATION","geneSymbols":["AMH","AMHR2","AR","C14orf39","DHX37","ESR2","FANCM","SPIDR","XRCC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_UTERUS_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M38442","pmid":"","exactSource":"HP:0031105","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031105","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_UTERUS_MORPHOLOGY","geneSymbols":["AKT1","ALG9","APC","AURKA","AXIN1","AXIN2","BAX","BMPR1A","BRAF","BRCA1","BRCA2","BRIP1","BUB1","BUB1B","CCND1","CCNQ","CDC73","CDH1","CHEK2","COL1A1","COL3A1","COL4A5","COL4A6","COL5A1","COL5A2","COQ6","CTNNB1","DACT1","DCC","DHCR7","DLC1","DYNC2H1","DYNC2I1","DYNC2I2","ELN","EP300","EPCAM","ERCC4","ESCO2","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FGF10","FGFR2","FGFR3","FH","FLCN","FLI1","FOXF1","FRAS1","FREM2","FZD2","GATA3","GNB2","GREM1","GRIP1","HNF1B","HOXA13","HYLS1","IFT80","INTU","IPO8","ITGA8","KLLN","LARS2","LRP2","LZTR1","MAD2L2","MCC","MID1","MLH1","MLH3","MNX1","MSH2","MSH3","MSH6","NAB2","NDP","NF2","NRAS","NTHL1","PALB2","PDGFRL","PHGDH","PIGN","PIK3CA","PLA2G2A","PMS2","POLD1","POLE","PPP1R12A","PTEN","PTPN12","PTPRJ","RAD51","RAD51C","RAD54B","RARB","RFWD3","RIPK4","RPS20","RPS6KA3","SALL1","SDHB","SDHC","SDHD","SEC23B","SEMA4A","SETBP1","SF3B4","SLC6A17","SLX4","SMAD3","SMARCB1","SPECC1L","SRC","SRY","STAT6","STK11","STRA6","TBX3","TGFBR1","TGFBR2","THOC6","TLR2","TNXB","TP53","UBE2T","USF3","WDR35","WNT4","WT1","XRCC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_TRICEPS_WEAKNESS":{"collection":"C5:HPO","systematicName":"M38443","pmid":"","exactSource":"HP:0031108","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031108","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TRICEPS_WEAKNESS","geneSymbols":["ADSS1","AGRN","AK9","CHRNA1","CHRNB1","CHRND","CHRNE","COL13A1","DOK7","DYSF","FBXO38","JAG1","LRP4","MFN2","MUSK","POMT1","RAPSN","SCN4A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RECURRENT_GASTROENTERITIS":{"collection":"C5:HPO","systematicName":"M38444","pmid":"","exactSource":"HP:0031123","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031123","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_GASTROENTERITIS","geneSymbols":["ADAM17","ADAT3","BLM","CD3E","CD3G","DCLRE1C","EGFR","FOXP3","IRF9","MAN2B1","SLC35C1","SP110","VPS33A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_B_TYPE_NATRIURETIC_PEPTIDE_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M46287","pmid":"","exactSource":"HP:0031138","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031138","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_B_TYPE_NATRIURETIC_PEPTIDE_CONCENTRATION","geneSymbols":["BAG5","GAA","HADHB","RASA1","SDHD","TNNT2","TTR"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_HEPATIC_ECHOGENICITY":{"collection":"C5:HPO","systematicName":"M47260","pmid":"","exactSource":"HP:0031142","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031142","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_HEPATIC_ECHOGENICITY","geneSymbols":["AHCY","FOCAD","LIPA","PCK1","SLC37A4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_THINNING_OF_DESCEMET_MEMBRANE":{"collection":"C5:HPO","systematicName":"M38445","pmid":"","exactSource":"HP:0031159","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031159","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THINNING_OF_DESCEMET_MEMBRANE","geneSymbols":["CYP1B1","FOXC1","FOXE3","OVOL2","PAX6","PITX2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_IMPAIRED_OROPHARYNGEAL_SWALLOW_RESPONSE":{"collection":"C5:HPO","systematicName":"M38446","pmid":"","exactSource":"HP:0031162","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031162","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRED_OROPHARYNGEAL_SWALLOW_RESPONSE","geneSymbols":["BRAF","GIPC1","LRP12","NGLY1","NOTCH2NLC","PLAA","PMP22","RILPL1","SEPSECS","TAF1","TSEN15","TSEN2","TSEN34","TSEN54"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MULTIFOCAL_SEIZURES":{"collection":"C5:HPO","systematicName":"M38447","pmid":"","exactSource":"HP:0031165","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031165","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MULTIFOCAL_SEIZURES","geneSymbols":["ADPRS","ARV1","ATP1A3","BRAT1","CARS2","CDKL5","DNM1","FRRS1L","GALNT2","NECAP1","PIGQ","PIGS","PPP2R5D","SLC13A5","SMC1A","TANGO2","TBCK","TFE3","WARS2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_POSTTERM_PREGNANCY":{"collection":"C5:HPO","systematicName":"M43498","pmid":"","exactSource":"HP:0031169","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031169","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POSTTERM_PREGNANCY","geneSymbols":["DUOX2","MAGEL2","NDN","OCA2","SNRPN"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NUCHAL_RIGIDITY":{"collection":"C5:HPO","systematicName":"M38448","pmid":"","exactSource":"HP:0031179","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031179","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NUCHAL_RIGIDITY","geneSymbols":["ATP1A2","CACNA1A","IRF3","PRRT2","SCN1A","TBK1","TICAM1","TLR3","TRAF3","UNC93B1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_WRIST_DROP":{"collection":"C5:HPO","systematicName":"M45484","pmid":"","exactSource":"HP:0031189","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031189","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WRIST_DROP","geneSymbols":["ACTA1","CADM3","LDB3","MORC2","NF2","PLOD1","REEP1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CIRCULATING_PROGESTERONE_LEVEL":{"collection":"C5:HPO","systematicName":"M43499","pmid":"","exactSource":"HP:0031212","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031212","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_PROGESTERONE_LEVEL","geneSymbols":["CYP11B1","CYP17A1","EIF2B1","FOXL2","HSD3B2","POR"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DECREASED_CIRCULATING_DEHYDROEPIANDROSTERONE_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M46288","pmid":"","exactSource":"HP:0031214","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031214","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_CIRCULATING_DEHYDROEPIANDROSTERONE_CONCENTRATION","geneSymbols":["MC2R","MRAP","NNT","POR","PRKAR1A","STAR","TXNRD2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INAPPROPRIATE_ANTIDIURETIC_HORMONE_SECRETION":{"collection":"C5:HPO","systematicName":"M43500","pmid":"","exactSource":"HP:0031218","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031218","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INAPPROPRIATE_ANTIDIURETIC_HORMONE_SECRETION","geneSymbols":["HESX1","LHX3","LHX4","MOGS","POU1F1","PPOX","PROP1","SP110"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_RADIOACTIVE_IODINE_UPTAKE_TEST_RESULT":{"collection":"C5:HPO","systematicName":"M43501","pmid":"","exactSource":"HP:0031221","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031221","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RADIOACTIVE_IODINE_UPTAKE_TEST_RESULT","geneSymbols":["DUOX2","DUOXA2","HESX1","IYD","LHX3","LHX4","POU1F1","PROP1","SLC5A5","TG","TPO","TRHR","TSHB","TSHR"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INTERNALLY_NUCLEATED_SKELETAL_MUSCLE_FIBERS":{"collection":"C5:HPO","systematicName":"M41536","pmid":"","exactSource":"HP:0031237","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031237","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTERNALLY_NUCLEATED_SKELETAL_MUSCLE_FIBERS","geneSymbols":["ACTN2","ANO5","LAMA2","NOTCH2NLC","RYR1","SQSTM1","TTN"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SWOLLEN_LIP":{"collection":"C5:HPO","systematicName":"M43502","pmid":"","exactSource":"HP:0031244","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031244","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SWOLLEN_LIP","geneSymbols":["ANGPT1","HS3ST6","KNG1","MYOF","PHGDH","PLG","XPNPEP2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PRODUCTIVE_COUGH":{"collection":"C5:HPO","systematicName":"M38449","pmid":"","exactSource":"HP:0031245","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031245","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PRODUCTIVE_COUGH","geneSymbols":["ARL2BP","BCOR","CCDC103","CCDC39","CCDC40","CCDC65","CCNO","CFAP221","CFAP298","CFAP300","CFAP74","CFTR","DNAAF1","DNAAF11","DNAAF2","DNAAF3","DNAAF4","DNAAF5","DNAAF6","DNAH1","DNAH11","DNAH5","DNAH9","DNAI1","DNAI2","DNAJB13","DNAL1","DRC1","FIP1L1","FOXJ1","GAS2L2","GAS8","HYDIN","IRF2BP2","LRRC56","MCIDAS","NABP1","NEK10","NME5","NME8","NPM1","NUMA1","ODAD1","ODAD2","ODAD3","ODAD4","OFD1","PML","PRKAR1A","RARA","RPGR","RSPH1","RSPH3","RSPH4A","RSPH9","SCNN1A","SCNN1B","SCNN1G","SPAG1","SPEF2","STAT3","STAT5B","STK36","TBL1XR1","TTC12","ZBTB16","ZMYND10"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PALMAR_PRURITUS":{"collection":"C5:HPO","systematicName":"M47261","pmid":"","exactSource":"HP:0031248","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031248","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PALMAR_PRURITUS","geneSymbols":["ABCB11","ABCB4","ATP8B1","CFTR","NR1H4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_SUBCLAVIAN_ARTERY_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M41537","pmid":"","exactSource":"HP:0031251","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031251","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SUBCLAVIAN_ARTERY_MORPHOLOGY","geneSymbols":["ACTA2","CREBBP","DDX6","EP300","KNSTRN","NKX2-6","PIK3CD","PLD1","PLXND1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DELIRIUM":{"collection":"C5:HPO","systematicName":"M38450","pmid":"","exactSource":"HP:0031258","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031258","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DELIRIUM","geneSymbols":["ALAD","DNMT1","FIG4","MMACHC","MT-TE","NAGS","PRDX1","RYR1","SLC25A13"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_RENAL_CORPUSCLE_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M45485","pmid":"","exactSource":"HP:0031263","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031263","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RENAL_CORPUSCLE_MORPHOLOGY","geneSymbols":["ACSL4","ACTN4","ADA","ALMS1","AMMECR1","ANKFY1","ANLN","APOE","APOL1","ARHGAP24","ARHGDIA","AVIL","BANK1","BLK","BSND","C1QA","C3","C4A","C4B","CASP10","CCR1","CD151","CD2AP","CD81","CEP83","CFH","CFHR5","CFI","CLCN5","CLCNKB","COL4A3","COL4A4","COL4A5","COL7A1","COPA","COQ2","COQ6","COQ8B","CR2","CRB2","CTLA4","DAAM2","DGKE","DLST","DNASE1","DNASE1L3","DNASE2","DNMT3A","ELP1","EMP2","EPAS1","ERAP1","ETS1","FAH","FAS","FASLG","FCGR2A","FCGR2B","FCGR3B","FH","FN1","FOXC2","FOXP3","G6PC1","GAPVD1","GATA3","GLA","GON7","HLA-B","HLA-DPA1","HLA-DPB1","HLA-DRB1","HNF1B","IFNGR1","IGHG1","IL10","IL12A","IL12A-AS1","IL23R","INF2","IRAK1","IRF5","ITGA3","ITGAM","ITGB4","JAG1","JAK1","JAZF1","KANK2","KCNE5","KCNJ1","KIAA0319L","KIF1B","KIRREL1","KLRC4","LAGE3","LAMA5","LAMB2","LMNA","LMNB2","LMX1B","LPIN2","MAGI2","MAX","MDH2","MECP2","MEFV","MMACHC","MME","MMP1","MT-ATP6","MT-CO1","MT-CO2","MT-CO3","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND5","MT-ND6","MT-TE","MT-TF","MT-TH","MT-TK","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TV","MT-TW","MTRR","MTX2","MUC1","MYO1E","MYOCD","NAA10","NARS2","NF1","NOS1AP","NPHP3","NPHS1","NPHS2","NUP107","NUP133","NUP160","NUP205","NUP37","NUP85","NUP93","OCRL","OSGEP","PAX2","PDCD1","PGM3","PLCE1","PLEC","PRKCD","PRTN3","PTPN22","PTPRO","PXK","RASGRP1","REN","RET","RNU7-1","SCARB2","SDHA","SDHAF2","SDHB","SDHC","SDHD","SEC61A1","SGPL1","SLC12A1","SLC12A3","SLC25A11","SLC37A4","SLC41A1","SLC7A7","SMARCAL1","SOCS1","SOX18","SPP1","SPRY2","STAT4","TBC1D8B","TLR4","TLR7","TMEM127","TNFAIP3","TNFSF4","TNIP1","TP53RK","TPRKB","TREX1","TRIM8","TRPC6","UBAC2","UBE2L3","VHL","VPS33A","WAS","WDR19","WDR4","WDR73","WIPF1","WT1","YRDC","ZAP70","ZNFX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_BOWMAN_CAPSULE_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M43503","pmid":"","exactSource":"HP:0031264","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031264","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BOWMAN_CAPSULE_MORPHOLOGY","geneSymbols":["AVIL","DAAM2","DGKE","EMP2","KIRREL1","NOS1AP","SGPL1","SLC41A1","YRDC","ZAP70"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SHOCK":{"collection":"C5:HPO","systematicName":"M38451","pmid":"","exactSource":"HP:0031273","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031273","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHOCK","geneSymbols":["ABCC6","ATRX","DAXX","DSP","JUP","LMOD2","MYL2","NAA10","RPL3L","SCNN1A","SCNN1B","SCNN1G","SDHA","TRDN"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPOVOLEMIC_SHOCK":{"collection":"C5:HPO","systematicName":"M43504","pmid":"","exactSource":"HP:0031274","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031274","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOVOLEMIC_SHOCK","geneSymbols":["DSP","JUP","SCNN1A","SCNN1B","SCNN1G"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FLUSHING":{"collection":"C5:HPO","systematicName":"M38452","pmid":"","exactSource":"HP:0031284","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031284","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FLUSHING","geneSymbols":["ADGRE2","ALDH2","APC2","ASXL1","ATP1A2","ATP1A3","ATRX","BRAF","CACNA1A","CBL","CDH23","DEPDC5","DLST","DNMT3A","EPAS1","FH","HNF4A","HPGD","KIF1B","KIT","MAOA","MAX","MDH2","NF1","NPRL2","NPRL3","NR3C1","NSD1","RET","RUNX1","RYR1","SCN9A","SDHA","SDHAF2","SDHB","SDHC","SDHD","SETD2","SLC1A3","SLC25A11","SRSF2","TET2","TMEM127","TP53","USP48","USP8","VHL"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_PERIFOLLICULAR_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M38453","pmid":"","exactSource":"HP:0031285","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031285","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PERIFOLLICULAR_MORPHOLOGY","geneSymbols":["HLA-DRA","KRT81","KRT83","KRT86","LRP1","MBTPS2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CUTANEOUS_ABSCESS":{"collection":"C5:HPO","systematicName":"M38454","pmid":"","exactSource":"HP:0031292","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031292","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CUTANEOUS_ABSCESS","geneSymbols":["BTK","CARMIL2","CTSC","CYBC1","ELANE","ELF4","G6PC3","GJB2","GJB6","IKBKB","IKZF3","IL10RA","IL10RB","IL17RA","IL6R","IL6ST","LCP2","MNX1","MPEG1","OTULIN","PGM3","PSEN1","PSENEN","RIPK1","STAT3","TGFB1","UBE2A","ZNF341"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MYOFIBER_DISARRAY":{"collection":"C5:HPO","systematicName":"M46289","pmid":"","exactSource":"HP:0031318","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031318","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MYOFIBER_DISARRAY","geneSymbols":["ACTC1","ACTN2","LMOD2","MYBPC3","MYL2","PRKAG2","SCO2","SMPX","TNNI3","VCL"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CARDIOMYOCYTE_HYPERTROPHY":{"collection":"C5:HPO","systematicName":"M46290","pmid":"","exactSource":"HP:0031319","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031319","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CARDIOMYOCYTE_HYPERTROPHY","geneSymbols":["ACTC1","ACTN2","ALPK3","DOLK","DSP","GYG1","KLHL24","TNNI3","VCL"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INTERSTITIAL_CARDIAC_FIBROSIS":{"collection":"C5:HPO","systematicName":"M38456","pmid":"","exactSource":"HP:0031329","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031329","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTERSTITIAL_CARDIAC_FIBROSIS","geneSymbols":["ACTC1","DOLK","FLNC","KIF20A","LMNA","MYH7","MYPN","RPL3L","TNNI3","TNNT2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CARDIOMYOCYTE_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M38457","pmid":"","exactSource":"HP:0031331","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031331","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CARDIOMYOCYTE_MORPHOLOGY","geneSymbols":["ACTC1","ACTN2","ALPK3","CACNA1S","COA5","DOLK","DSP","GYG1","KLHL24","LMOD2","PNPLA2","RPL3L","RYR1","TNNI3","TNNT2","VCL"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DEXTROTRANSPOSITION_OF_THE_GREAT_ARTERIES":{"collection":"C5:HPO","systematicName":"M46291","pmid":"","exactSource":"HP:0031348","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031348","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEXTROTRANSPOSITION_OF_THE_GREAT_ARTERIES","geneSymbols":["ACVR2B","CIROP","NODAL","SMAD2","SMG9","ZIC3","ZNF462"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_VEGETATIVE_STATE":{"collection":"C5:HPO","systematicName":"M38458","pmid":"","exactSource":"HP:0031358","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031358","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VEGETATIVE_STATE","geneSymbols":["AARS1","ABCD1","ARSA","EPM2A","ISCA2","LNPK","NHLRC1","PEX2","PIGA","PLA2G6","POLG","PSAP","SHQ1","TTC26"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ECCHYMOSIS":{"collection":"C5:HPO","systematicName":"M38459","pmid":"","exactSource":"HP:0031364","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031364","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ECCHYMOSIS","geneSymbols":["AIP","ATRX","BCOR","BRAF","CALR","CD109","CDH23","CHST14","COL1A1","COL3A1","COL5A1","COL5A2","F13A1","F13B","F2","FIP1L1","GBA1","GFI1B","GGCX","GIMAP5","GP1BA","GP1BB","GP6","HPS1","HPS6","IFNG","IRF2BP2","ITGA2","ITGA2B","ITGB3","JAK2","MPL","NABP1","NPM1","NR3C1","NUMA1","P2RY12","PML","PRF1","PRKAR1A","RARA","SBDS","STAT3","STAT5B","STX11","STXBP2","TBL1XR1","TBXA2R","TERC","TERT","TET2","TP53","UNC13D","USP48","USP8","ZBTB16"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MACULAR_PURPURA":{"collection":"C5:HPO","systematicName":"M38460","pmid":"","exactSource":"HP:0031365","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031365","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MACULAR_PURPURA","geneSymbols":["AIP","APOE","ATRX","BCOR","BRAF","CALR","CASP10","CD109","CDH23","CHST14","CLCN7","COL1A1","COL3A1","COL5A1","COL5A2","DCLRE1B","DPP9","ETHE1","ETV6","F13A1","F13B","F2","F8","FCGR2C","FERMT3","FIP1L1","FUCA1","FYB1","GATA1","GBA1","GFI1B","GGCX","GIMAP5","GNA14","GP1BA","GP1BB","GP6","GP9","HCK","HOXA11","HPS1","HPS6","IFNG","IRF2BP2","ITGA2","ITGA2B","ITGB3","JAK2","LCP2","MPL","NABP1","NAGA","NEU1","NPM1","NR3C1","NUMA1","OCLN","P2RY12","PEPD","PML","PRF1","PRKAR1A","RAB27A","RARA","SAMD9","SBDS","STAT3","STAT5B","STX11","STXBP2","TBL1XR1","TBXA2R","TERC","TERT","TET2","TP53","TREX1","UNC13D","USP18","USP48","USP8","VWF","WAS","WIPF1","ZBTB16"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_METAPHYSEAL_STRIATIONS":{"collection":"C5:HPO","systematicName":"M38461","pmid":"","exactSource":"HP:0031367","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031367","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_METAPHYSEAL_STRIATIONS","geneSymbols":["ADA","AMER1","ANAPC1","KIF22","MTAP","NANS","PISD","POLE","PORCN","RAB3GAP2","RECQL4","RMRP","TONSL","WDR26"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INTESTINAL_PERFORATION":{"collection":"C5:HPO","systematicName":"M43505","pmid":"","exactSource":"HP:0031368","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031368","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTESTINAL_PERFORATION","geneSymbols":["B2M","C1R","GATA6","POLG","TYMP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ANKLE_WEAKNESS":{"collection":"C5:HPO","systematicName":"M38462","pmid":"","exactSource":"HP:0031374","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031374","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANKLE_WEAKNESS","geneSymbols":["AGRN","AK9","BSCL2","CHRNA1","CHRNB1","CHRND","CHRNE","COL13A1","DOK7","LDB3","LRP4","MATR3","MUSK","PMP22","RAPSN","SCN4A","TTN"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_LYMPHOCYTE_PROLIFERATION":{"collection":"C5:HPO","systematicName":"M47262","pmid":"","exactSource":"HP:0031378","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031378","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LYMPHOCYTE_PROLIFERATION","geneSymbols":["CARD11","CD247","CD27","CD3D","CD3E","CIITA","CTPS1","DEF6","DOCK2","EXTL3","IKBKB","IL2RA","IL2RG","IL7R","JAK3","KNSTRN","LCP2","LIG1","MALT1","MCM10","MGAT2","MRTFA","NSMCE3","PGM3","PIK3CD","PNP","RAC2","RAG1","RAG2","RASGRP1","REL","RFX5","RFXANK","RFXAP","SLF2","STAT1","SYK","TGFB1","TNFRSF9","WIPF1","ZAP70"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_T_CELL_PROLIFERATION":{"collection":"C5:HPO","systematicName":"M38464","pmid":"","exactSource":"HP:0031379","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031379","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_T_CELL_PROLIFERATION","geneSymbols":["CARD11","CD3E","CTPS1","DOCK2","LCP2","LIG1","MRTFA","NSMCE3","PGM3","RAG1","RAG2","RASGRP1","TGFB1","WIPF1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DECREASED_LYMPHOCYTE_PROLIFERATION_IN_RESPONSE_TO_MITOGEN":{"collection":"C5:HPO","systematicName":"M38465","pmid":"","exactSource":"HP:0031381","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031381","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_LYMPHOCYTE_PROLIFERATION_IN_RESPONSE_TO_MITOGEN","geneSymbols":["CD247","CD27","CD3D","CD3E","CIITA","EXTL3","IKBKB","IL2RA","IL2RG","IL7R","JAK3","KNSTRN","MALT1","MCM10","MGAT2","PIK3CD","PNP","RAC2","RAG1","RAG2","RASGRP1","RFX5","RFXANK","RFXAP","SLF2","STAT1","SYK","TNFRSF9","ZAP70"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DECREASED_LYMPHOCYTE_PROLIFERATION_IN_RESPONSE_TO_ANTI_CD3":{"collection":"C5:HPO","systematicName":"M41538","pmid":"","exactSource":"HP:0031382","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031382","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_LYMPHOCYTE_PROLIFERATION_IN_RESPONSE_TO_ANTI_CD3","geneSymbols":["IL2RA","JAK3","KNSTRN","MALT1","MCM10","PIK3CD","RAC2","SLF2","STAT1","TNFRSF9"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_PROPORTION_OF_CD4_POSITIVE_T_CELLS":{"collection":"C5:HPO","systematicName":"M38466","pmid":"","exactSource":"HP:0031392","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031392","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PROPORTION_OF_CD4_POSITIVE_T_CELLS","geneSymbols":["ATM","ATP6AP2","BCL11B","BLM","CARD9","CASP10","CD4","CIITA","DEF6","DIAPH1","DOCK8","EPG5","EXTL3","FAS","FASLG","HLA-DPB1","IKBKB","IL2RG","IL7R","ITK","IVNS1ABP","KNSTRN","LAT","LCK","LCP2","LEP","LEPR","MAGT1","MYC","NSMCE3","OTULIN","PGM3","PIK3CD","PIK3R1","PRKCD","RASGRP1","RFX5","RFXANK","RFXAP","SASH3","SMARCAL1","TOM1","UNC119","WAS"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_PROPORTION_OF_CD8_POSITIVE_T_CELLS":{"collection":"C5:HPO","systematicName":"M38467","pmid":"","exactSource":"HP:0031393","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031393","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PROPORTION_OF_CD8_POSITIVE_T_CELLS","geneSymbols":["BLM","CARD9","CASP10","CD3G","CD8A","EXTL3","FAS","FASLG","IKBKB","IL2RG","IL7R","NSMCE3","PGM3","PIK3CG","PRKCD","RASGRP1","SASH3","TCF3","WAS","WIPF1","ZAP70"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CD4_CD8_RATIO":{"collection":"C5:HPO","systematicName":"M38468","pmid":"","exactSource":"HP:0031394","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031394","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CD4_CD8_RATIO","geneSymbols":["AP3B1","CASP8","CIITA","CTPS1","DEF6","GATA2","IL2RA","IL2RB","MAGT1","PGM3","POMP","RASGRP1","RFX5","RFXANK","RFXAP","UNC119","WAS","WDR1","ZAP70"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_PROPORTION_OF_NAIVE_T_CELLS":{"collection":"C5:HPO","systematicName":"M46292","pmid":"","exactSource":"HP:0031396","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031396","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PROPORTION_OF_NAIVE_T_CELLS","geneSymbols":["BCL11B","IL2RG","PIK3R1","SASH3","SMARCAL1","SYK"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DECREASED_PROPORTION_OF_NAIVE_T_CELLS":{"collection":"C5:HPO","systematicName":"M47263","pmid":"","exactSource":"HP:0031397","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031397","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_PROPORTION_OF_NAIVE_T_CELLS","geneSymbols":["IL2RG","PIK3R1","SASH3","SMARCAL1","SYK"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_PROPORTION_OF_DOUBLE_NEGATIVE_ALPHA_BETA_REGULATORY_T_CELL":{"collection":"C5:HPO","systematicName":"M43506","pmid":"","exactSource":"HP:0031399","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031399","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PROPORTION_OF_DOUBLE_NEGATIVE_ALPHA_BETA_REGULATORY_T_CELL","geneSymbols":["CASP10","FAS","FASLG","FOXP3","PIK3CG","PRKCD","RASGRP1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_REDUCED_ANTIGEN_SPECIFIC_T_CELL_PROLIFERATION":{"collection":"C5:HPO","systematicName":"M41539","pmid":"","exactSource":"HP:0031402","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031402","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_ANTIGEN_SPECIFIC_T_CELL_PROLIFERATION","geneSymbols":["CARD11","CTPS1","DOCK2","LCP2","NSMCE3","PGM3","RAG1","RAG2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_IMPAIRED_ANTIGEN_SPECIFIC_RESPONSE":{"collection":"C5:HPO","systematicName":"M38470","pmid":"","exactSource":"HP:0031404","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031404","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRED_ANTIGEN_SPECIFIC_RESPONSE","geneSymbols":["ADA","AICDA","ALG12","ARHGEF1","B2M","BTK","CARD11","CARMIL2","CASP10","CASP8","CD19","CD247","CD70","CD79A","CD81","COG6","CORO1A","CR2","CTNNBL1","CTPS1","DOCK2","FAS","FASLG","HYOU1","ICOS","IGHG2","IGKC","IKBKG","IL2RA","IRF2BP2","KNSTRN","LCP2","LRBA","MAGT1","MALT1","NSMCE3","PGM3","PIK3CD","PMM2","PRKCD","RAC2","RAG1","RAG2","RASGRP1","REL","RIPK1","SASH3","SLC35C1","TCF3","TNFRSF13B","TNFRSF13C","TNFRSF9","WAS","ZAP70"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INCREASED_PROPORTION_OF_CD25_MAST_CELLS":{"collection":"C5:HPO","systematicName":"M43507","pmid":"","exactSource":"HP:0031408","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031408","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_PROPORTION_OF_CD25_MAST_CELLS","geneSymbols":["ASXL1","CBL","LYST","RUNX1","SRSF2","TET2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_LYMPHOCYTE_PHYSIOLOGY":{"collection":"C5:HPO","systematicName":"M47264","pmid":"","exactSource":"HP:0031409","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031409","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LYMPHOCYTE_PHYSIOLOGY","geneSymbols":["AARS1","ADA","ADA2","ADAM17","ADAMTS3","AICDA","AK2","ALB","ALG12","AP3B1","ARHGEF1","ARVCF","ATM","ATP6AP1","ATP6AP2","B2M","BACH2","BCL10","BLM","BLNK","BTK","CARD10","CARD11","CARD9","CARMIL2","CARS1","CASP10","CASP8","CAVIN1","CCBE1","CCND1","CD19","CD247","CD27","CD28","CD3D","CD3E","CD3G","CD40","CD40LG","CD55","CD70","CD79A","CD79B","CD81","CDCA7","CDSN","CIITA","CISD2","CNBP","COG6","COL1A1","COL7A1","COMT","CORO1A","CR2","CSNK2A1","CTLA4","CTNNBL1","CTPS1","CXCR4","DCLRE1C","DEF6","DGCR2","DGCR6","DGCR8","DNMT3B","DOCK2","DOCK8","DSG1","EGFR","ELANE","EPG5","ERCC2","ERCC3","ESS2","EXTL3","FAS","FASLG","FAT4","FCGR3A","FLNA","FNIP1","FOXP3","GATA3","GBA1","GP1BB","GPC3","GPC4","GPR35","GTF2E2","GTF2H5","HELLS","HIRA","HLA-DQA1","HLA-DQB1","HLA-DRB1","HYOU1","ICOS","IFIH1","IFNGR1","IGHG2","IGHM","IGKC","IGLL1","IKBKB","IKBKG","IKZF1","IL12A","IL12RB1","IL17RA","IL21","IL21R","IL2RA","IL2RB","IL2RG","IL4R","IL6R","IL6ST","IL7R","IPO8","IRAK4","IRF2BP2","IRF5","IRF8","ITCH","ITK","IVNS1ABP","JAK3","JMJD1C","KLHDC8B","KNSTRN","KRAS","KRT14","KRT5","KRT74","KRT9","LAMTOR2","LAT","LCK","LCP2","LEP","LEPR","LIG1","LIG4","LMNA","LRBA","LRRC8A","MAGT1","MALT1","MAN2B1","MCM10","MGAT2","MMEL1","MOGS","MPLKIP","MRTFA","MS4A1","MS4A2","MSN","MST1","MTHFD1","MTOR","MUC5B","MVK","MYD88","MYSM1","NAE1","NBN","NCKAP1L","NFE2L2","NFKB1","NFKB2","NFKBIA","NHEJ1","NHLRC2","NLRC4","NLRP1","NRAS","NSMCE3","OAS1","ORAI1","OTULIN","PEPD","PGM3","PIGT","PIK3CD","PIK3CG","PIK3R1","PLA2G7","PLCG2","PLVAP","PMM2","PNP","POLE","POMP","POU2AF1","PRF1","PRIM1","PRKCD","PSMB4","PSMB8","PSMB9","PSTPIP1","PTEN","PTPRC","RAB27A","RAC2","RAD50","RAG1","RAG2","RASGRP1","RBM8A","REL","RFX5","RFXANK","RFXAP","RIPK1","RMRP","RNF113A","RNF168","RNU4ATAC","RPA1","RREB1","RTEL1","SAMD9L","SASH3","SCARB2","SEC24C","SEMA4D","SETX","SFTPA2","SFTPC","SH2D1A","SH3KBP1","SIK3","SKIC2","SKIC3","SLC25A13","SLC35C1","SLC39A4","SLC39A7","SLC46A1","SLC5A6","SLC7A7","SLF2","SMARCAL1","SON","SP110","SPI1","SPIB","SPINK5","SPPL2A","SRP54","STAT1","STAT2","STAT3","STAT5B","STIM1","STING1","STX11","STXBP2","SYK","TARS1","TBX1","TCF3","TCF4","TCN2","TERT","TFRC","TGFB1","TIMM8A","TLR8","TNFRSF11A","TNFRSF13B","TNFRSF13C","TNFRSF1B","TNFRSF9","TNFSF12","TNFSF15","TNPO3","TOM1","TONSL","TP53","TPP2","TRMU","TRNT1","TTC7A","TYK2","TYMS","UFD1","UMPS","UNC13D","UNG","VPS33A","VPS45","WAS","WIPF1","XIAP","ZAP70","ZBTB24","ZEB2","ZNF341"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SHORT_TELOMERE_LENGTH":{"collection":"C5:HPO","systematicName":"M47265","pmid":"","exactSource":"HP:0031413","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031413","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_TELOMERE_LENGTH","geneSymbols":["ACD","DNAJC21","MDM4","PARN","POT1","RPA1","RTEL1","TERT","TINF2","TP53","TYMS","WRAP53","ZCCHC8"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HIGH_SERUM_CALCITRIOL":{"collection":"C5:HPO","systematicName":"M45486","pmid":"","exactSource":"HP:0031415","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031415","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HIGH_SERUM_CALCITRIOL","geneSymbols":["CLCN5","GALNT3","KL","SLC34A1","SLC34A3","VDR"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RHINORRHEA":{"collection":"C5:HPO","systematicName":"M47266","pmid":"","exactSource":"HP:0031417","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031417","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RHINORRHEA","geneSymbols":["CCDC39","CCDC40","DNAH1","LRRC56","ODAD1","SCN9A","SDHD","SREBF1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INCREASED_BODY_MASS_INDEX":{"collection":"C5:HPO","systematicName":"M38473","pmid":"","exactSource":"HP:0031418","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031418","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_BODY_MASS_INDEX","geneSymbols":["CORIN","FLT1","STOX1","THOC2","THRA"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CEREBELLAR_CORTEX_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M46293","pmid":"","exactSource":"HP:0031422","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031422","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CEREBELLAR_CORTEX_MORPHOLOGY","geneSymbols":["ATP6V1B2","PNPT1","POLG","TBC1D24","TWNK"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CIRCULATING_OSTEOCALCIN_LEVEL":{"collection":"C5:HPO","systematicName":"M43508","pmid":"","exactSource":"HP:0031427","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031427","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_OSTEOCALCIN_LEVEL","geneSymbols":["AVP","CCDC134","COL2A1","ESR1","FAM20A","FN1","SLC34A1","SLC34A3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RESTRICTED_OR_REPETITIVE_BEHAVIORS_OR_INTERESTS":{"collection":"C5:HPO","systematicName":"M47267","pmid":"","exactSource":"HP:0031432","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031432","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RESTRICTED_OR_REPETITIVE_BEHAVIORS_OR_INTERESTS","geneSymbols":["ADCY5","ADGRL1","ADGRV1","ADNP","AFF2","AFF3","AGO1","ALKBH8","ANK3","AP1G1","AP1S2","AP4B1","AP4E1","AP4M1","AP4S1","ARID1B","ARID2","ARPC4","ASH1L","ASXL3","ATG7","ATP9A","ATRX","AUTS2","BAZ1B","BCL11A","BCL7B","BCORL1","BCR","BICRA","BRAF","BRD4","BUD23","CABP4","CACNA1B","CACNA1H","CACNA2D1","CAMK2B","CAMTA1","CARS1","CASZ1","CCNK","CDK19","CDKL5","CELF2","CEP152","CEP85L","CERT1","CHAMP1","CHD1","CHD3","CHD5","CHD7","CHD8","CHMP2B","CHRNA2","CHRNA4","CHRNB2","CIC","CLCN3","CLCN4","CLIP2","CLN5","CNTNAP2","COASY","CPLX1","CRB1","CREBBP","CRH","CRKL","CSNK2A1","CTBP1","CUX2","DDC","DDX6","DEAF1","DEPDC5","DHPS","DHX30","DLL1","DMPK","DNAJC19","DNAJC30","DOCK7","DPAGT1","DPF2","DPYSL5","DRD2","DYRK1A","EBF3","EEF1A2","EHMT1","EIF4H","ELN","ELP2","EMC10","EP300","EXT2","EXTL3","FBXO28","FBXW11","FGFRL1","FKBP6","FLCN","FLII","FMO3","FMR1","FOXG1","FOXP1","GABBR2","GABRA1","GABRB3","GABRD","GABRG2","GATAD2B","GCH1","GJA5","GJA8","GLYCTK","GNAI1","GNB1","GNB2","GRIA1","GRIA2","GRIK2","GRIN1","GRIN2A","GRN","GTF2I","GTF2IRD1","GTF2IRD2","GUCY2D","H4C5","HCN1","HDAC4","HDAC8","HDC","HECW2","HERC2","HNRNPH2","HNRNPK","HNRNPR","HSPG2","HTR2A","HTT","HUWE1","IFNG","IMPDH2","IQSEC2","JARID2","JRK","KAT5","KAT6A","KCNAB2","KCNB1","KCNN2","KCNT1","KCTD17","KDM4B","KIF15","KIF5C","KMT2A","KMT5B","KPTN","KYNU","LARP7","LETM1","LIMK1","LMNB1","LUZP1","MACF1","MADD","MAGEL2","MAP1B","MAPK1","MAPK8IP3","MAPT","MBD5","MECP2","MED12","MEF2C","METTL27","MGAT2","MLXIPL","MMP23B","NAA10","NAA15","NAA20","NACC1","NAGS","NAPB","NARS1","NAT8L","NCF1","NDN","NDP","NEXMIF","NFIA","NIPBL","NKX2-1","NLGN1","NLGN3","NLGN4X","NMNAT1","NOVA2","NPC2","NR2F1","NR4A2","NSD2","NTNG1","NTNG2","NTRK2","OCA2","OCRL","OPHN1","PACS2","PAH","PANK2","PCDH19","PDE2A","PDGFB","PDPN","PDZD8","PGAP1","PGAP3","PIGF","PITRM1","POGZ","POLA1","PPM1D","PPP2CA","PPP2R5D","PRDM16","PRKAR1B","PRKCZ","PRODH","PSEN1","PTCHD1","PUF60","PUS7","RAB11B","RAB39B","RAC1","RAD21","RAI1","RBL2","RERE","RFC2","RFX7","RHOBTB2","RPE65","RTTN","SATB1","SCN1A","SCN1B","SCN2A","SCN8A","SCN9A","SEMA3E","SETD5","SGCE","SH2B1","SHANK3","SHMT2","SIK1","SIN3A","SIN3B","SKI","SLC1A4","SLC2A1","SLC2A3","SLC35C1","SLC45A1","SLC6A4","SLC6A8","SLC9A6","SLITRK1","SLITRK2","SMARCA2","SMC1A","SMC3","SNRPN","SOX5","SPATA5","SPEN","SPTBN1","SQSTM1","SRCAP","STX1A","STX1B","SVBP","SYNGAP1","SYT1","TANC2","TAOK1","TARDBP","TBC1D23","TBCD","TBL2","TBR1","TBX1","TCEAL1","TCF20","TCF4","TFE3","THOC2","TIAM1","TKT","TLK2","TMEM106B","TMEM222","TMEM270","TMEM67","TOR1A","TPR","TRANK1","TRAPPC6B","TRAPPC9","TREM2","TRIM8","TRIO","TRRAP","TSC1","TSC2","TTC19","TTI2","TUBB3","TULP1","UBE2A","UBE3A","UBE4B","USP7","USP9X","VAMP2","VARS1","VCP","VPS13A","VPS16","VPS37D","WDR26","WDR4","XK","YME1L1","YWHAG","ZBTB18","ZBTB20","ZEB2","ZMYM2","ZNF526","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_PROSODY":{"collection":"C5:HPO","systematicName":"M38474","pmid":"","exactSource":"HP:0031434","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031434","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PROSODY","geneSymbols":["ADAMTSL2","AR","ARID1B","BLM","BRD4","BSCL2","CHRNB1","CTNND2","CWF19L1","DNAJC13","EED","EIF4G1","ERCC4","EZH2","FAM111A","FBXO7","FMR1","FOXP2","GBA1","GHR","GIGYF2","GRB10","GRIN2A","HDAC8","HSPG2","IGF1R","ITPA","LMNA","LRRK2","MAPT","MDM2","MED12","MFN2","MORC2","MT-ATP6","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND5","MT-ND6","MT-TK","MT-TL1","MT-TV","MT-TW","MTX2","MYH7","NBAS","NIPBL","NSD1","ORC4","P4HB","PCNT","POC1A","POLD1","PPP1R15B","RAD21","RBBP8","RIN2","SEC24D","SELENON","SEMA5A","SERPINH1","SMARCAL1","SMC1A","SMC3","SNCA","SRCAP","SRPX2","STAT5B","SUZ12","SYT2","TRIM37","TRMT10A","TRPS1","TTN","VPS35","WRN","XRCC4","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MONOTONIC_SPEECH":{"collection":"C5:HPO","systematicName":"M38475","pmid":"","exactSource":"HP:0031435","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031435","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MONOTONIC_SPEECH","geneSymbols":["CWF19L1","DNAJC13","EIF4G1","FBXO7","GBA1","GIGYF2","LRRK2","SNCA","VPS35"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_EROSION_OF_ORAL_MUCOSA":{"collection":"C5:HPO","systematicName":"M41541","pmid":"","exactSource":"HP:0031446","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031446","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EROSION_OF_ORAL_MUCOSA","geneSymbols":["COL7A1","DSG3","KRT14","KRT5","LAMA3","LAMB3","LAMC2","MMP1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PENILE_FRECKLING":{"collection":"C5:HPO","systematicName":"M46294","pmid":"","exactSource":"HP:0031447","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031447","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PENILE_FRECKLING","geneSymbols":["HEPACAM","KRT5","POFUT1","POGLUT1","PSENEN","PTEN"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PULMONARY_OPACITY":{"collection":"C5:HPO","systematicName":"M46295","pmid":"","exactSource":"HP:0031457","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031457","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PULMONARY_OPACITY","geneSymbols":["ABCA3","AGR2","ATP11A","BMPR2","COL3A1","CSF2RA","CSF2RB","DPP9","DSP","EIF2AK4","FAM13A","HLA-DPB1","IFIH1","MUC5B","NKX2-1","PARN","RTEL1","SFTPA1","SFTPA2","SFTPB","SFTPC","SLC34A2","STN1","TERC","TERT"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SOFT_TISSUE_NEOPLASM":{"collection":"C5:HPO","systematicName":"M38478","pmid":"","exactSource":"HP:0031459","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031459","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SOFT_TISSUE_NEOPLASM","geneSymbols":["APC","COL4A5","COL4A6","NAB2","NOTCH3","PDGFRB","STAT6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_IMPAIRMENT_IN_PERSONALITY_FUNCTIONING":{"collection":"C5:HPO","systematicName":"M38479","pmid":"","exactSource":"HP:0031466","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031466","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRMENT_IN_PERSONALITY_FUNCTIONING","geneSymbols":["AARS2","ABCA7","ABCB11","ABCB4","ABCC9","ACSL4","ADCY5","ADGRV1","ADH1C","ADNP","AFG3L2","AGO1","AIP","AKT1","ALAD","ALDH4A1","ALDH5A1","ALG14","ALG9","AMACR","ANG","ANXA11","AOPEP","AP1G1","AP2S1","APC2","AR","ARID2","ARMC5","ARSA","ARSG","ARVCF","ASH1L","ATP13A2","ATP1A2","ATP1A3","ATP2A2","ATP7B","ATP8B1","ATP9A","ATRX","ATXN10","ATXN2","ATXN8OS","B4GALNT1","BANK1","BAP1","BAZ1B","BCL11B","BCL7B","BCR","BCS1L","BLK","BMPR1A","BPTF","BRAF","BRD4","BSND","BUD23","C19orf12","C4A","C4B","C9orf72","CABP4","CACNA1A","CACNA1G","CACNA1H","CACNA1I","CARS1","CASR","CBS","CCND1","CCNF","CDC42BPB","CDH2","CDH23","CDKL5","CDKN1A","CDKN1B","CDKN2A","CDKN2B","CDKN2C","CDON","CEACAM3","CEACAM6","CEP78","CEP85L","CFAP410","CFTR","CHCHD10","CHCHD2","CHD2","CHD7","CHD8","CHMP2B","CHRNA2","CHRNA4","CHRNA7","CHRNB2","CIB2","CIC","CISD2","CIZ1","CLCA4","CLCN3","CLCN4","CLCNKA","CLCNKB","CLIP2","CLN3","CLN5","CLN6","CLRN1","CLTRN","COASY","COL7A1","COMT","COQ2","CPOX","CR2","CREBBP","CRH","CRKL","CSF1R","CTLA4","CTNNB1","CTSF","CUL4B","CUX2","CYP27A1","DAO","DCTN1","DCTN4","DDB1","DDC","DEAF1","DENND5A","DEPDC5","DGCR2","DGCR6","DGCR8","DGUOK","DISP1","DLAT","DLL1","DLST","DNA2","DNAJC13","DNAJC30","DNAJC5","DNAJC6","DNASE1","DNM1","DNMT1","DNMT3A","DPH1","DPH2","DRD2","DUSP6","DYRK1A","EDNRA","EHMT1","EIF2AK1","EIF2B1","EIF4G1","EIF4H","ELN","ELP1","EMC10","EP300","EPAS1","EPCAM","EPHA4","EPM2A","ERBB4","ESPN","ESS2","ETS1","FA2H","FAN1","FCGR2B","FCGR3B","FGF14","FGF17","FGF8","FGFR1","FH","FIG4","FKBP5","FKBP6","FLI1","FLII","FLT4","FMO3","FMR1","FOCAD","FOXG1","FOXH1","FOXP1","FRMD5","FTL","FTSJ1","FUS","GABBR2","GABRA1","GABRB3","GABRD","GABRG2","GALC","GALT","GAS1","GBA1","GCH1","GCLC","GDAP2","GIGYF2","GLA","GLE1","GLI2","GLT8D1","GLUD2","GM2A","GNA11","GNAS","GNB1","GNRH1","GNRHR","GP1BB","GPR101","GPR35","GRIA1","GRIK2","GRIN2A","GRN","GSN","GSTM3","GTF2I","GTF2IRD1","GTF2IRD2","H1-4","HARS1","HCN1","HDAC8","HECTD4","HEXB","HFE","HIRA","HIVEP2","HLA-B","HLA-DQA1","HLA-DQB1","HLA-DRB1","HMBS","HMOX1","HNRNPA1","HNRNPH2","HS6ST1","HSPG2","HTR2A","HTRA1","HTRA2","HTT","IDUA","IFNG","IGF1R","IGHG1","IL10","IMPDH2","IQSEC2","IRAK1","IRF4","IRF5","IRF6","ITGAM","JAZF1","JMJD1C","JPH3","JRK","KANSL1","KCNJ2","KCNN2","KCNN4","KCNT1","KCTD17","KIAA0319L","KIF15","KIF1B","KISS1","KISS1R","KMT2A","KMT2B","KMT2E","KPTN","KRAS","LARP7","LAS1L","LEPR","LGI1","LGI3","LIMK1","LMNB1","LRRK2","MAMLD1","MAN2B1","MAPK1","MAPK10","MAPK8IP3","MAPT","MATR3","MAX","MBD5","MDH2","MECP2","MED12","MED12L","MEN1","METTL27","MIF","MIR17HG","MLH1","MLH3","MLXIPL","MMP1","MSH2","MSH6","MST1","MSTO1","MSX1","MT-CO1","MT-CO2","MT-CO3","MT-ND1","MT-ND4","MT-ND5","MT-ND6","MT-TF","MT-TH","MT-TL1","MT-TL2","MT-TN","MT-TQ","MT-TS1","MT-TS2","MT-TT","MT-TW","MTPAP","MYO7A","NAGS","NCF1","NDP","NECTIN1","NEFH","NEK1","NEXMIF","NF1","NF2","NFASC","NFIB","NFIX","NHLH2","NHLRC1","NIPBL","NKX2-1","NODAL","NONO","NOTCH3","NR1H4","NR3C1","NR4A2","NSD1","NSD2","NSMF","NTNG1","NTRK1","OCRL","OPTN","P4HA2","PAH","PAK3","PANK2","PARK7","PCDH15","PCDH19","PDCD1","PDCD6IP","PDE10A","PDE11A","PDGFB","PDGFRB","PDZD7","PER2","PER3","PFN1","PGK1","PHF21A","PHGDH","PHIP","PIDD1","PIGS","PIK3CA","PINK1","PLA2G6","PLCH1","PLP1","PMS1","PMS2","PODXL","POGZ","POLG","POLG2","PON1","PON2","PON3","PPARGC1A","PPM1D","PPOX","PPP1CB","PPP2R2B","PPT1","PQBP1","PRKACA","PRKAR1A","PRKAR1B","PRKCG","PRKN","PRNP","PROK2","PROKR2","PRPH","PRR12","PSAP","PSAT1","PSEN1","PSMD12","PTCH1","PTPN22","PTS","PURA","PXK","RAD21","RAI1","RBM12","RELN","RET","RFC2","RFX7","RIMS2","RLIM","RNF125","RNF168","RORA","RPS20","RPS6KA3","RREB1","RRM2B","SARDH","SATB2","SCN1A","SCN1B","SCN2A","SCN9A","SDHA","SDHAF2","SDHB","SDHC","SDHD","SEC24C","SEMA4A","SEMA4D","SERPINA1","SETBP1","SETD1A","SETD1B","SETD2","SETD5","SGCE","SHH","SHQ1","SIN3A","SIX3","SLC11A1","SLC18A2","SLC19A3","SLC1A3","SLC20A2","SLC25A11","SLC25A4","SLC26A9","SLC2A1","SLC2A3","SLC35C1","SLC39A4","SLC45A1","SLC6A14","SLC6A17","SLC6A19","SLC6A4","SLC7A6OS","SLC9A3","SLITRK2","SMARCB1","SMARCE1","SMC1A","SMC3","SMC5","SMO","SMPD1","SNCA","SNCAIP","SNORD118","SNRPN","SOD1","SOX5","SPART","SPAST","SPECC1L","SPG11","SPG21","SPP1","SPRY4","SPTBN1","SQSTM1","SRCAP","SRPX2","STAG2","STAT4","STEEP1","STIL","STUB1","STX16","STX1A","STX1B","SUFU","SYNJ1","TAC3","TACR3","TAF1","TAF15","TANC2","TARDBP","TBC1D2B","TBC1D7","TBCK","TBK1","TBL2","TBP","TBX1","TCF12","TCF20","TCF4","TDGF1","TDO2","TERT","TET3","TGFB1","TGFBR2","TGIF1","THOC2","TK2","TLK2","TLR7","TMCO1","TMEM106B","TMEM127","TMEM147","TMEM270","TNFAIP3","TNFSF4","TNIK","TNIP1","TOR1A","TP53","TP63","TPH2","TRAF7","TRANK1","TREM2","TREX1","TRHR","TRIP12","TSC1","TSC2","TSHB","TTC19","TTR","TUBB3","TWNK","TYROBP","UBE2L3","UBQLN2","UCHL1","UFD1","UNC13A","UQCRC1","USH1C","USH1G","USH2A","USP48","USP8","VAPB","VCP","VHL","VPS13A","VPS13C","VPS16","VPS35","VPS37D","WAC","WARS2","WDR11","WDR45","WFS1","WHRN","XK","XPR1","YWHAG","YY1","ZBTB20","ZFYVE26","ZIC2","ZNRF3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LOW_SELF_ESTEEM":{"collection":"C5:HPO","systematicName":"M38480","pmid":"","exactSource":"HP:0031469","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031469","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOW_SELF_ESTEEM","geneSymbols":["CACNA1H","FMO3","GABRA1","GABRB3","GABRG2","IRF6","JRK","MSX1","NECTIN1","SLC2A1","TP63"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_STATUS_EPILEPTICUS_WITHOUT_PROMINENT_MOTOR_SYMPTOMS":{"collection":"C5:HPO","systematicName":"M38481","pmid":"","exactSource":"HP:0031475","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031475","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_STATUS_EPILEPTICUS_WITHOUT_PROMINENT_MOTOR_SYMPTOMS","geneSymbols":["ADGRV1","ADORA2A","CDKN1A","CDKN1B","CDKN2B","CDKN2C","CHD2","CLN6","DNM1","GABRA1","GABRD","GABRG2","GRIN2A","HCN1","HNRNPU","MEN1","ODC1","PCDH19","POLG","SCN1A","SCN1B","SCN2A","SCN9A","SLC1A2","STX1B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_MITRAL_VALVE_PHYSIOLOGY":{"collection":"C5:HPO","systematicName":"M38482","pmid":"","exactSource":"HP:0031481","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031481","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MITRAL_VALVE_PHYSIOLOGY","geneSymbols":["ABCC6","ABCG5","ABCG8","ACTC1","ADAMTS10","ADAMTSL2","ADNP","AGA","AIP","AKT3","ALDH18A1","ALPK3","ANKRD11","APOB","ARSB","B3GALT6","BAG3","BANF1","BAZ1B","BCL7B","BUD23","C4A","CBL","CCND2","CCR1","CHST14","CHST3","CITED2","CLIC2","CLIP2","COL1A1","COL1A2","COL5A1","COL5A2","COX7B","CRYAB","CTCF","DCHS1","DNAJC30","DNMT3A","DOHH","DSE","DTNA","DZIP1","EIF4H","ELN","ERAP1","EXOSC5","FAR1","FAS","FBLN5","FBN1","FBN2","FHL1","FHOD3","FKBP14","FKBP6","FLNA","FLNC","G6PC3","GATA4","GATA6","GBA1","GJA1","GLA","GLB1","GNPTAB","GNS","GPR101","GTF2I","GTF2IRD1","GTF2IRD2","HAAO","HADHA","HADHB","HCCS","HEPHL1","HEXB","HLA-B","IDUA","IFNGR1","IL10","IL12A","IL12A-AS1","IL23R","IL6ST","IRX5","KIF20A","KLHL24","KLRC4","LDLR","LDLRAP1","LIMK1","LMNA","LMOD2","LOX","LRPPRC","LTBP2","LTBP3","LZTR1","MAN2B1","MAP3K7","MAPK1","MCTP2","MEFV","METTL27","MLXIPL","MTX2","MYH6","MYH7","MYL2","MYPN","NCF1","NDUFB11","NF1","NKAP","NKX2-5","NOTCH1","NOTCH2","PCSK9","PDSS1","PEX2","PIK3R2","PKD1","PLD1","POLG","PPP1CB","PRDM16","PRG4","PYROXD1","RAF1","RFC2","RIT1","RPL3L","RPL5","RPS6KA3","RSPRY1","SDHD","SGO1","SKI","SLC22A5","SMAD3","SMAD4","SMAD6","SOX5","SPEG","STAT4","STX1A","SYT2","TBL2","TBX20","TGFB3","THSD1","TLL1","TLR4","TLR7","TMEM270","TNNI3","TNNT2","TPM1","TWNK","TXNDC15","UBAC2","UBE2A","VPS33A","VPS37D","XYLT1","XYLT2","ZIC3","ZMPSTE24","ZNF148"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CONTINUOUS_SPIKE_AND_WAVES_DURING_SLOW_SLEEP":{"collection":"C5:HPO","systematicName":"M45487","pmid":"","exactSource":"HP:0031491","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031491","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONTINUOUS_SPIKE_AND_WAVES_DURING_SLOW_SLEEP","geneSymbols":["CACNA2D1","CNKSR2","FRRS1L","GRIN2A","KCNC2","KCNQ2","SCN2A","SRPX2","TRIM8","TRPM3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FOAMY_URINE":{"collection":"C5:HPO","systematicName":"M46296","pmid":"","exactSource":"HP:0031504","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031504","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOAMY_URINE","geneSymbols":["ACTN4","ANKFY1","ANLN","APOL1","ARHGAP24","ARHGDIA","CD2AP","COL4A3","COQ8B","CRB2","DAAM2","EMP2","GAPVD1","INF2","MAGI2","MYO1E","NPHS1","NPHS2","NUP107","NUP133","NUP160","NUP205","NUP37","NUP85","NUP93","PAX2","PLCE1","PTPRO","TBC1D8B","TRPC6","WT1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CIRCULATING_T4_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M41542","pmid":"","exactSource":"HP:0031505","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031505","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_T4_CONCENTRATION","geneSymbols":["ALG8","ALMS1","DUOX2","DUOXA2","GLIS3","HESX1","IYD","KCNJ18","LHX3","LHX4","MAGEL2","NDN","OCA2","PAX8","POU1F1","PROP1","SECISBP2","SLC5A5","SNRPN","TG","THRB","TPO","TRHR","TSHB","TSHR"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CIRCULATING_THYROID_HORMONE_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M38484","pmid":"","exactSource":"HP:0031508","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031508","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_THYROID_HORMONE_CONCENTRATION","geneSymbols":["ALB","ALG8","ALMS1","CPE","DIO1","DUOX2","DUOXA2","FOCAD","GLIS3","HESX1","IRS4","IYD","KCNJ18","LHX3","LHX4","MADD","MAGEL2","NDN","NKX2-5","OCA2","PAX8","POU1F1","PROP1","SECISBP2","SLC5A5","SNRPN","TBL1X","TG","THRA","THRB","TPO","TRHR","TSHB","TSHR","USP9X"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_OOCYTE_ARREST_AT_METAPHASE_I":{"collection":"C5:HPO","systematicName":"M47268","pmid":"","exactSource":"HP:0031516","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031516","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OOCYTE_ARREST_AT_METAPHASE_I","geneSymbols":["PANX1","PATL2","TRIP13","TUBB8","WEE2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_KERATOACANTHOMA":{"collection":"C5:HPO","systematicName":"M46297","pmid":"","exactSource":"HP:0031525","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031525","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_KERATOACANTHOMA","geneSymbols":["ERCC4","KRT5","POFUT1","POGLUT1","PSENEN"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SUBRETINAL_FLUID":{"collection":"C5:HPO","systematicName":"M43509","pmid":"","exactSource":"HP:0031526","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031526","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUBRETINAL_FLUID","geneSymbols":["BEST1","CFH","CFI","CTNNB1","EFEMP1","FZD4","LRP5","NDP","TSPAN12","ZNF408"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SUBRETINAL_DEPOSITS":{"collection":"C5:HPO","systematicName":"M43510","pmid":"","exactSource":"HP:0031528","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031528","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUBRETINAL_DEPOSITS","geneSymbols":["C1QTNF5","CSPP1","CYP4V2","KIAA0586","TIMP3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INCREASED_THETA_FREQUENCY_ACTIVITY_IN_EEG":{"collection":"C5:HPO","systematicName":"M43511","pmid":"","exactSource":"HP:0031535","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031535","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_THETA_FREQUENCY_ACTIVITY_IN_EEG","geneSymbols":["CABP4","CHRNA2","CHRNA4","CHRNB2","CRH","DEPDC5","KCNQ2","KCNQ3","KCNT1","RPL10","SETD1B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_DERMOEPIDERMAL_JUNCTION_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M41543","pmid":"","exactSource":"HP:0031538","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031538","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_DERMOEPIDERMAL_JUNCTION_MORPHOLOGY","geneSymbols":["COL17A1","DSP","DST","ITGA6","ITGB4","JUP","KRT14","LAMA3","LAMB3","LAMC2","PLEC","ZAP70"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALLY_LOW_T_CELL_RECEPTOR_EXCISION_CIRCLE_LEVEL":{"collection":"C5:HPO","systematicName":"M46298","pmid":"","exactSource":"HP:0031545","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031545","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALLY_LOW_T_CELL_RECEPTOR_EXCISION_CIRCLE_LEVEL","geneSymbols":["BCL11B","DCLRE1C","FOXN1","IL2RG","LCP2","RAC2","RPA1","STN1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CARDIAC_CONDUCTION_ABNORMALITY":{"collection":"C5:HPO","systematicName":"M38485","pmid":"","exactSource":"HP:0031546","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031546","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CARDIAC_CONDUCTION_ABNORMALITY","geneSymbols":["ABCC9","ACADVL","ACTA1","ACTC1","ACTN2","AGXT","AKAP9","ATP1A2","ATP1A3","ATP6V1A","ATP6V1E1","BANF1","BRAF","BTNL2","BVES","CACNA1A","CACNA1C","CACNA1D","CACNA1S","CACNA2D1","CACNB2","CALM1","CALM2","CALM3","CASQ2","CDC45","CDH2","CITED2","CNBP","CPT2","CREBBP","CTNNA3","DEF6","DES","DMPK","DOHH","DSG2","DTNA","DYSF","EMD","EP300","EXOSC5","FHL1","FLNC","GABRA3","GATA4","GATA6","GJA5","GLA","GNAI2","GNB2","GNB5","GPC3","GPC4","GPD1L","GPX4","GRIN1","GYG1","HCN4","HLA-DRB1","JUP","KCND3","KCNE3","KCNE5","KCNH2","KCNJ18","KCNJ2","KCNJ5","KCNJ8","KCNK3","KCNQ1","LAMP2","LARS2","LDB3","LEMD2","LMNA","LMOD2","LRP1","MMP14","MMP2","MT-ATP6","MT-ATP8","MT-CO1","MT-CO2","MT-CO3","MT-CYB","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND5","MT-ND6","MT-TF","MT-TH","MT-TK","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TV","MT-TW","MYBPC3","MYH6","MYH7","MYL2","MYL4","MYOZ2","MYPN","NKX2-5","NPPA","PEX7","PHYH","PIGU","PKP2","PLEC","POLG2","POMT2","PPP1CB","PRKAG2","PRKG2","PSEN1","PSEN2","PTPN11","RAF1","RANGRF","RMRP","RNASEH1","RRM2B","RYR2","SCN10A","SCN1B","SCN2B","SCN3B","SCN4B","SCN5A","SCNN1A","SDHA","SDHAF1","SDHB","SDHD","SELENON","SEMA3A","SGO1","SLC1A3","SLC25A20","SLC4A3","SLMAP","SYNE1","SYNE2","TBX20","TBX5","TLL1","TMEM43","TNNC1","TNNI3K","TNNT2","TRDN","TRPM4","TTN","TTR","VEZF1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_QT_INTERVAL":{"collection":"C5:HPO","systematicName":"M38486","pmid":"","exactSource":"HP:0031547","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031547","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_QT_INTERVAL","geneSymbols":["ACADVL","AKAP9","ALG10B","ALPK3","ANK2","BPTF","CACNA1C","CACNA1S","CACNA2D1","CACNB2","CALM1","CALM2","CALM3","CAV3","CAVIN1","CDC73","CDKN1A","CDKN1B","CDKN2B","CDKN2C","CLCNKB","DNAJC19","DPAGT1","FLNC","GABRA3","GMPPB","GNAS","GNB2","GPC3","GPC4","HADH","HCN4","KCNA5","KCND3","KCNE1","KCNE2","KCNH2","KCNJ18","KCNJ2","KCNJ5","KCNQ1","MECP2","MEN1","NOS1AP","PHOX2B","PSMD12","RYR1","SCN10A","SCN4B","SCN5A","SLC12A3","SLC4A3","SLC6A8","SNTA1","SRY","STX16","SVIL","TANGO2","TBX5","TECRL","TNNI3K","TNNT2","TRDN","TRPM4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABDOMINAL_SITUS_AMBIGUUS":{"collection":"C5:HPO","systematicName":"M47269","pmid":"","exactSource":"HP:0031565","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031565","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABDOMINAL_SITUS_AMBIGUUS","geneSymbols":["CIROP","DNAAF5","GDF1","NODAL","ODAD4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_PULMONARY_VALVE_CUSP_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M47270","pmid":"","exactSource":"HP:0031566","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031566","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PULMONARY_VALVE_CUSP_MORPHOLOGY","geneSymbols":["ATRX","B3GLCT","DAXX","TGFBR1","TGFBR2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_AORTIC_VALVE_CUSP_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M38488","pmid":"","exactSource":"HP:0031567","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031567","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_AORTIC_VALVE_CUSP_MORPHOLOGY","geneSymbols":["ABCC9","ACTA2","ACTB","ADA2","ADAMTS19","AGO2","ARHGAP31","ARSK","B3GALT6","B3GAT3","BAZ1B","BBS2","BCAS3","BCL7B","BCOR","BUD23","CAPN15","CBL","CCNQ","CHST3","CLIP2","CREBBP","DNAJC30","DOHH","DPF2","EDNRA","EIF4H","ELN","EP300","FBN1","FBN2","FDFT1","FKBP6","FLNA","FOXE3","FOXF1","GATA5","GATA6","GJA5","GJA8","GTF2I","GTF2IRD1","GTF2IRD2","H3-3A","H3-3B","HEY2","HNRNPK","IFT122","KANSL1","KIF3B","LIMK1","LOX","LRPPRC","MAP3K7","MAT2A","MCTP2","METTL27","MFAP5","MLXIPL","MMP14","MMP2","MYH11","MYH7","MYLK","MYOCD","NAA10","NADSYN1","NCF1","NFE2L2","NKX2-5","NOTCH1","NOTCH3","NXN","OGT","PACS1","PPM1D","PPP2R5D","PRKG1","PUF60","RAC1","RAI1","RFC2","ROBO4","RPL26","SGO1","SKIC2","SKIC3","SLC25A24","SMAD2","SMAD3","SMAD4","SMAD6","SMC3","SNIP1","SPTBN1","SRY","STX1A","TAB2","TAF2","TBL2","TGFB2","TGFB3","TGFBR1","TGFBR2","THSD4","TMEM270","TNXB","VPS37D","WAC","WT1","YY1AP1","ZEB2","ZNF462"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SUICIDAL_IDEATION":{"collection":"C5:HPO","systematicName":"M43512","pmid":"","exactSource":"HP:0031589","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031589","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUICIDAL_IDEATION","geneSymbols":["ATRX","BRAF","CABP4","CDH23","CEP85L","CHRNA2","CHRNA4","CHRNB2","CRH","CYP27A1","DCDC2","DCTN1","DEPDC5","FIG4","HTT","KCNT1","NR3C1","SLC2A3","SPTBN1","TMEM67","TP53","USP48","USP8"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_PR_INTERVAL":{"collection":"C5:HPO","systematicName":"M38489","pmid":"","exactSource":"HP:0031593","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031593","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PR_INTERVAL","geneSymbols":["CACNA1S","CLCNKB","DOHH","DSG2","GAA","GABRA3","GNB2","GNB5","GPD1L","KCNA5","KCNJ18","MT-CYB","MTFMT","NKX2-5","PRKAG2","SCN2B","SCN5A","SLC12A3","TLL1","TRPM4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_P_WAVE":{"collection":"C5:HPO","systematicName":"M46299","pmid":"","exactSource":"HP:0031595","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031595","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_P_WAVE","geneSymbols":["EMD","GJA5","NPPA","SCN3B","SCN5A","TLL1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_FUNDUS_PIGMENTATION":{"collection":"C5:HPO","systematicName":"M38490","pmid":"","exactSource":"HP:0031605","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031605","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_FUNDUS_PIGMENTATION","geneSymbols":["AIPL1","APC","ARL6","BLOC1S6","CACNA1F","CAPN5","CFAP418","CFH","CFI","CHM","CLRN1","CNGA1","COL4A1","CRX","EDNRB","EFEMP1","EPG5","GGCX","GPR143","GUCA1A","GUCY2D","IFNG","KIF7","LAMB2","LRAT","MC1R","MITF","MTTP","MUTYH","OCA2","PAX3","PDE6G","POU3F4","PRPH2","RBP3","RDH5","RHO","RLBP1","ROM1","SLC25A15","SLC45A2","SOX10","TSC1","TSC2","TYR"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_GEOGRAPHIC_ATROPHY":{"collection":"C5:HPO","systematicName":"M38491","pmid":"","exactSource":"HP:0031609","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031609","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GEOGRAPHIC_ATROPHY","geneSymbols":["APOE","CFHR1","CFHR3","HGSNAT","HMCN1","IMPDH1","NMNAT1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MODERATE_MYOPIA":{"collection":"C5:HPO","systematicName":"M46300","pmid":"","exactSource":"HP:0031624","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031624","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MODERATE_MYOPIA","geneSymbols":["ASPH","COL9A3","FLNA","H4C3","H4C5"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_IMPAIRED_TANDEM_GAIT":{"collection":"C5:HPO","systematicName":"M41544","pmid":"","exactSource":"HP:0031629","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031629","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRED_TANDEM_GAIT","geneSymbols":["ATP6AP2","COQ5","FMR1","GDAP1","ITPR1","JAG1","KCNN2","MTRFR","PCDH15","PLOD1","SLC35C1","TBC1D24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_ATRIOVENTRICULAR_VALVE_PHYSIOLOGY":{"collection":"C5:HPO","systematicName":"M38492","pmid":"","exactSource":"HP:0031650","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031650","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ATRIOVENTRICULAR_VALVE_PHYSIOLOGY","geneSymbols":["ABCC6","ABCG5","ABCG8","ACTC1","ADAMTS10","ADAMTS19","ADAMTSL2","ADNP","AGA","AGR2","AIP","AKT3","ALDH18A1","ALG9","ALPK3","ANKRD11","APOB","ARL6","ARSB","ATP6AP1","ATP6V1E1","ATRX","B3GALT6","BAG3","BANF1","BAZ1B","BCL7B","BUD23","C4A","CBL","CCND2","CCR1","CDH2","CHST14","CHST3","CITED2","CLIC2","CLIP2","COA6","COL1A1","COL1A2","COL5A1","COL5A2","COX6B1","COX7B","CRYAB","CSGALNACT1","CTCF","DAXX","DCHS1","DLL4","DNAJC30","DNMT3A","DOHH","DSE","DTNA","DVL3","DZIP1","EIF4H","ELN","ERAP1","EXOSC5","FAR1","FAS","FBLN5","FBN1","FBN2","FHL1","FHOD3","FKBP14","FKBP6","FLNA","FLNC","FNIP1","G6PC3","GATA4","GATA6","GBA1","GJA1","GLA","GLB1","GNPTAB","GNS","GPR101","GTF2I","GTF2IRD1","GTF2IRD2","HAAO","HADHA","HADHB","HCCS","HEPHL1","HEXB","HLA-B","IDUA","IFNGR1","IL10","IL12A","IL12A-AS1","IL23R","IL6ST","IRX5","KIF20A","KLHL24","KLRC4","LDLR","LDLRAP1","LIMK1","LMNA","LMOD2","LOX","LRPPRC","LTBP2","LTBP3","LZTR1","MAN2B1","MAP3K7","MAPK1","MCTP2","MEFV","MEGF8","METTL27","MLXIPL","MTX2","MYCN","MYH6","MYH7","MYL2","MYPN","MYSM1","NCAPG2","NCF1","NDUFB11","NEK1","NF1","NKAP","NKX2-5","NONO","NOTCH1","NOTCH2","PCSK9","PDSS1","PEX2","PIK3R2","PKD1","PLD1","POLG","PPP1CB","PRDM16","PRG4","PRKAR1A","PYROXD1","RAD21","RAF1","RFC2","RIT1","RNF2","RPL3L","RPL5","RPS19","RPS6KA3","RSPRY1","SCN4A","SCN5A","SDHD","SGO1","SKI","SLC22A5","SLC25A24","SLC31A1","SMAD3","SMAD4","SMAD6","SOX5","SPEG","STAT4","STX1A","SYT2","TAB2","TAFAZZIN","TBL2","TBX20","TGFB3","THSD1","TLL1","TLR4","TLR7","TMEM270","TNNC2","TNNI3","TNNT2","TPM1","TTC26","TWNK","TXNDC15","UBAC2","UBE2A","VPS33A","VPS37D","WDR37","XYLT1","XYLT2","ZIC3","ZMPSTE24","ZNF148"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_TRICUSPID_VALVE_PHYSIOLOGY":{"collection":"C5:HPO","systematicName":"M38493","pmid":"","exactSource":"HP:0031651","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031651","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_TRICUSPID_VALVE_PHYSIOLOGY","geneSymbols":["ABCC6","ACTC1","ADAMTS19","ADAMTSL2","AGR2","ALG9","ALPK3","ARL6","ARSB","ATP6AP1","ATP6V1E1","ATRX","CDH2","CHST14","CHST3","CITED2","CLIC2","COA6","COL1A2","COX6B1","COX7B","CSGALNACT1","DAXX","DLL4","DNMT3A","DOHH","DVL3","EXOSC5","FBN1","FKBP14","FLNA","FLNC","FNIP1","GATA4","GATA6","HADHA","HADHB","HCCS","HEPHL1","KIF20A","LMOD2","MEGF8","MTX2","MYCN","MYH6","MYH7","MYPN","MYSM1","NCAPG2","NDUFB11","NEK1","NKX2-5","NONO","PEX2","PLD1","PPP1CB","PRKAR1A","RAD21","RNF2","RPL3L","RPS19","SCN4A","SCN5A","SDHD","SLC25A24","SLC31A1","TAB2","TAFAZZIN","TBX20","TLL1","TNNC2","TNNI3","TNNT2","TTC26","TXNDC15","VPS33A","WDR37"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_AORTIC_VALVE_PHYSIOLOGY":{"collection":"C5:HPO","systematicName":"M38494","pmid":"","exactSource":"HP:0031652","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031652","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_AORTIC_VALVE_PHYSIOLOGY","geneSymbols":["ABCG5","ABCG8","ACTA2","ACTB","ADAMTS10","ADAMTS19","ADAMTSL2","ALDH18A1","AMER1","ANKS6","APOB","ARF1","ARFGEF2","ARHGAP31","ARSK","ATP6V1E1","B4GALT7","BAZ1B","BCL7B","BCOR","BCR","BUB1","BUB1B","BUB3","BUD23","C12orf57","C4A","CBL","CCDC22","CCNQ","CCR1","CEP57","CHST14","CHST3","CLIC2","CLIP2","COA6","COL1A2","CREBBP","CRKL","D2HGDH","DNAJC30","DOCK7","DOHH","DPH1","DPH2","DPYSL5","DYRK1A","EBP","EFEMP2","EHMT1","EIF4H","ELN","EP300","ERAP1","ERMARD","FAS","FBLN5","FBN1","FGFR1","FKBP6","FLI1","FLNA","FOXE3","FOXF1","GATA4","GATA5","GBA1","GJA5","GJA8","GLB1","GNPTAB","GNPTG","GTF2I","GTF2IRD1","GTF2IRD2","HAAO","HCN4","HEATR3","HEY2","HLA-B","IDUA","IFIH1","IFNGR1","IL10","IL12A","IL12A-AS1","IL23R","KIFBP","KLRC4","KRAS","LDLR","LDLRAP1","LIMK1","LMNA","LMOD2","LOX","LTBP1","LTBP2","MAN2B1","MAP1B","MAPK1","MAT2A","MEFV","METTL27","MFAP5","MLXIPL","MYH11","MYLK","NCF1","NEDD4L","NEK8","NKX2-5","NKX2-6","NOTCH1","NOTCH2","NPHP3","NR2F2","ODAD1","PCGF2","PCSK9","PDSS1","PEX2","PLXND1","PRKG1","PUF60","RFC2","RIGI","RMRP","ROBO4","RRAS2","SCN1B","SHOC2","SKIC2","SKIC3","SLC2A10","SLC35A1","SMAD2","SMAD3","SMAD4","SMAD6","SNIP1","SON","SPRED2","SPTBN1","STAT4","STX1A","SZT2","TAB2","TAF2","TBL2","TGFB2","TGFB3","TGFBR1","TGFBR2","THSD4","TLR4","TMEM270","TMTC3","TRAF7","TRIP13","TTC26","TTR","TWIST1","UBAC2","VPS35L","VPS37D","VWF","WASHC5","WT1","YY1AP1","ZEB2","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_HEART_VALVE_PHYSIOLOGY":{"collection":"C5:HPO","systematicName":"M38495","pmid":"","exactSource":"HP:0031653","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031653","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_HEART_VALVE_PHYSIOLOGY","geneSymbols":["ABCA3","ABCC6","ABCG5","ABCG8","ACAD8","ACTA2","ACTB","ACTC1","ADA","ADAMTS10","ADAMTS19","ADAMTSL2","ADK","ADNP","AGA","AGO2","AGR2","AIP","AKT3","ALDH18A1","ALG9","ALPK3","AMER1","ANKRD11","ANKS6","APOB","ARF1","ARFGEF2","ARHGAP31","ARL6","ARPC4","ARSB","ARSK","ATP11A","ATP6AP1","ATP6V1E1","ATRX","B3GALT6","B3GLCT","B4GALT7","BAG3","BANF1","BAZ1B","BCL7B","BCOR","BCR","BMP2","BPTF","BRAF","BUB1","BUB1B","BUB3","BUD23","C12orf57","C4A","CBL","CCDC22","CCDC32","CCND2","CCNQ","CCR1","CDC42","CDH2","CEP57","CHD3","CHD7","CHST14","CHST3","CIC","CIROP","CITED2","CLIC2","CLIP2","COA6","COL1A1","COL1A2","COL3A1","COL5A1","COL5A2","COX6B1","COX7B","CREBBP","CRKL","CRYAB","CSGALNACT1","CTCF","CUL3","D2HGDH","DAXX","DCHS1","DDX3X","DLL4","DNAJC30","DNAL1","DNMT3A","DOCK7","DOHH","DPH1","DPH2","DPP9","DPYSL5","DSE","DSG1","DSP","DTNA","DVL3","DYRK1A","DZIP1","EBP","EFEMP2","EHMT1","EIF4H","ELN","ENPP1","EP300","ERAP1","ERMARD","EXOSC5","FAM13A","FAR1","FAS","FAT4","FBLN5","FBN1","FBN2","FBXW11","FGFR1","FHL1","FHOD3","FKBP14","FKBP6","FKTN","FLI1","FLNA","FLNC","FLT4","FNIP1","FOXE3","FOXF1","G6PC3","GATA4","GATA5","GATA6","GBA1","GDF1","GJA1","GJA5","GJA8","GLA","GLB1","GNPTAB","GNPTG","GNS","GPC3","GPC4","GPR101","GTF2I","GTF2IRD1","GTF2IRD2","HAAO","HADHA","HADHB","HCCS","HCN4","HEATR3","HEPHL1","HEXB","HEY2","HIVEP2","HLA-B","HRAS","IDUA","IFIH1","IFNGR1","IGFBP7","IL10","IL12A","IL12A-AS1","IL23R","IL6ST","INVS","IRX5","KANSL1","KAT6A","KCNH1","KDM6A","KIF20A","KIFBP","KLHL24","KLRC4","KRAS","LDLR","LDLRAP1","LEMD2","LIMK1","LMNA","LMOD2","LOX","LRP4","LRPPRC","LTBP1","LTBP2","LTBP3","LZTR1","MAN2B1","MAP1B","MAP2K1","MAP2K2","MAP3K7","MAPK1","MAT2A","MCTP2","MEFV","MEGF8","METTL27","MFAP5","MGP","MLXIPL","MRAS","MTX2","MUC5B","MYCN","MYH11","MYH6","MYH7","MYL2","MYLK","MYPN","MYSM1","NCAPG2","NCF1","NDUFB11","NEDD4L","NEK1","NEK8","NEK9","NF1","NKAP","NKX2-5","NKX2-6","NONO","NOTCH1","NOTCH2","NPHP3","NR2F2","NRAS","NRXN1","ODAD1","OTUD5","PARN","PCGF2","PCSK9","PDSS1","PEX2","PGAP1","PIK3R2","PKD1","PLD1","PLXND1","POLG","POLR3A","PPP1CB","PRDM16","PRDM5","PRG4","PRKAR1A","PRKG1","PSMD12","PTPN11","PUF60","PYROXD1","RAB23","RAD21","RAF1","RFC2","RIGI","RIT1","RMRP","RNF135","RNF2","ROBO4","RPL27","RPL3L","RPL5","RPS19","RPS6KA3","RRAS2","RSPRY1","RTEL1","SARDH","SCN1B","SCN4A","SCN5A","SDHD","SFTPA1","SFTPA2","SFTPC","SGO1","SHOC2","SKI","SKIC2","SKIC3","SLC22A5","SLC25A24","SLC29A3","SLC2A10","SLC31A1","SLC35A1","SMAD2","SMAD3","SMAD4","SMAD6","SMARCA4","SMC3","SMC5","SNIP1","SON","SOS1","SOS2","SOX5","SPEG","SPRED1","SPRED2","SPTBN1","STAT4","STN1","STRA6","STX1A","SYT2","SZT2","TAB2","TAF2","TAFAZZIN","TBCK","TBL2","TBX2","TBX20","TERC","TERT","TGFB2","TGFB3","TGFBR1","TGFBR2","THSD1","THSD4","TLL1","TLR4","TLR7","TMEM270","TMTC3","TNNC2","TNNI3","TNNT2","TPM1","TRAF7","TRIP13","TTC26","TTR","TWIST1","TWNK","TXNDC15","UBAC2","UBE2A","VPS33A","VPS35L","VPS37D","VWF","WAC","WASHC5","WDR37","WNT4","WT1","XYLT1","XYLT2","YY1AP1","ZEB2","ZIC3","ZMPSTE24","ZNF148","ZNF341","ZNF469","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_PULMONARY_VALVE_PHYSIOLOGY":{"collection":"C5:HPO","systematicName":"M38496","pmid":"","exactSource":"HP:0031654","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031654","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PULMONARY_VALVE_PHYSIOLOGY","geneSymbols":["ABCA3","ACAD8","ADA","ADAMTS10","ADAMTS19","ADK","AGO2","ANKS6","ARHGAP31","ARPC4","ARSB","ATP11A","B3GLCT","B4GALT7","BAZ1B","BCL7B","BCOR","BMP2","BPTF","BRAF","BUB1B","BUD23","CCDC22","CCDC32","CCNQ","CDC42","CHD3","CHD7","CHST3","CIC","CIROP","CLIP2","COL1A1","COL1A2","COL3A1","CREBBP","CUL3","DCHS1","DDX3X","DNAJC30","DNAL1","DPP9","DPYSL5","DSG1","DSP","EFEMP2","EIF4H","ELN","ENPP1","EP300","FAM13A","FAT4","FBN1","FBXW11","FKBP6","FKTN","FLNA","FLT4","FOXF1","G6PC3","GATA4","GATA6","GDF1","GNPTAB","GPC3","GPC4","GTF2I","GTF2IRD1","GTF2IRD2","HIVEP2","HRAS","IGFBP7","INVS","KANSL1","KAT6A","KCNH1","KDM6A","KIF20A","KRAS","LEMD2","LIMK1","LRP4","LTBP2","LZTR1","MAP2K1","MAP2K2","MAP3K7","METTL27","MGP","MLXIPL","MRAS","MUC5B","NCF1","NEK8","NEK9","NF1","NKX2-6","NOTCH1","NOTCH2","NRAS","NRXN1","OTUD5","PARN","PGAP1","PLD1","PLXND1","POLR3A","PPP1CB","PRDM5","PSMD12","PTPN11","RAB23","RAD21","RAF1","RFC2","RIT1","RNF135","RPL27","RTEL1","SARDH","SFTPA1","SFTPA2","SFTPC","SGO1","SHOC2","SKIC3","SLC29A3","SMAD2","SMAD3","SMAD6","SMARCA4","SMC3","SMC5","SOS1","SOS2","SPRED1","SPRED2","STN1","STRA6","STX1A","TAB2","TBCK","TBL2","TBX2","TERC","TERT","TMEM270","TRAF7","VPS35L","VPS37D","WAC","WASHC5","WNT4","ZEB2","ZIC3","ZNF341","ZNF469","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_HEART_SOUND":{"collection":"C5:HPO","systematicName":"M38497","pmid":"","exactSource":"HP:0031657","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031657","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_HEART_SOUND","geneSymbols":["ABCG5","ABCG8","ACTC1","ADAMTS19","ADNP","APOB","BICRA","BMPR2","CIC","CITED2","CWC27","DDX6","FBN1","FIG4","FOCAD","GAA","GATA4","GATA5","GATA6","GNPTAB","IDS","LDLR","LDLRAP1","MED12","MYH6","MYH7","NKX2-5","NOTCH1","PCSK9","PEX2","PRKAR1A","RBBP8","SDHD","SLC25A4","SMAD6","SMAD9","SPTBN1","TBX20","TLL1","TMEM260","TWIST1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SYSTOLIC_HEART_MURMUR":{"collection":"C5:HPO","systematicName":"M41545","pmid":"","exactSource":"HP:0031664","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031664","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SYSTOLIC_HEART_MURMUR","geneSymbols":["ACTC1","ADAMTS19","CITED2","FOCAD","GATA4","GATA6","MYH6","NKX2-5","TBX20","TLL1","TMEM260","TWIST1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_POLYMORPHIC_VENTRICULAR_TACHYCARDIA":{"collection":"C5:HPO","systematicName":"M46301","pmid":"","exactSource":"HP:0031677","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031677","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POLYMORPHIC_VENTRICULAR_TACHYCARDIA","geneSymbols":["CALM2","CASQ2","KCNJ2","KCNJ5","TECRL","TRDN"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_STOOL_COMPOSITION":{"collection":"C5:HPO","systematicName":"M43513","pmid":"","exactSource":"HP:0031685","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031685","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_STOOL_COMPOSITION","geneSymbols":["ALAD","BRCA1","BRCA2","CPOX","CYP7B1","DCDC2","DEF6","EPCAM","GATA1","HSD3B7","MYO5B","PERCC1","PPOX","PTPN3","RFX6","SLC10A2","SLC26A3","SLC9A3","UROD","UROS"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MEGAKARYOCYTE_DYSPLASIA":{"collection":"C5:HPO","systematicName":"M46302","pmid":"","exactSource":"HP:0031689","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031689","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MEGAKARYOCYTE_DYSPLASIA","geneSymbols":["MYH9","MYSM1","RFWD3","SAMD9","UBA1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_OPPORTUNISTIC_INFECTION":{"collection":"C5:HPO","systematicName":"M38498","pmid":"","exactSource":"HP:0031690","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031690","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OPPORTUNISTIC_INFECTION","geneSymbols":["ADA","C1QB","CARD11","CD40LG","CEACAM3","CEACAM6","CFTR","CLCA4","CYBB","DCLRE1C","DCTN4","EDNRA","ELANE","GCLC","GSTM3","HFE","HMOX1","IGHG2","IGKC","IKBKG","IL12RB1","IL17RC","IL21R","IL2RG","IL7R","JAK3","KCNN4","MBL2","MIF","MPEG1","NHP2","PIK3CD","PNP","RAG1","RAG2","SERPINA1","SLC11A1","SLC26A9","SLC6A14","SLC9A3","STAT1","STX1A","TGFB1","TLR8","ZAP70","ZBTB24","ZNF341","ZNFX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SEVERE_VIRAL_INFECTION":{"collection":"C5:HPO","systematicName":"M41546","pmid":"","exactSource":"HP:0031691","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031691","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEVERE_VIRAL_INFECTION","geneSymbols":["ADORA2A","BLM","CARD11","CD27","CD3D","CD70","CTPS1","DEF6","DNASE2","DOCK2","FCGR3A","IKBKG","IL2RA","IL2RB","IRF7","ISG15","LAT","MAGT1","MCM10","NFKBIA","PGM3","PIK3CD","PIK3R1","PTEN","RAC2","REL","SASH3","SH2D1A","STAT2","TGFB1","TLR7","TPP2","TRAC","XIAP","ZNFX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SEVERE_CYTOMEGALOVIRUS_INFECTION":{"collection":"C5:HPO","systematicName":"M43514","pmid":"","exactSource":"HP:0031692","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031692","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEVERE_CYTOMEGALOVIRUS_INFECTION","geneSymbols":["CARD11","DEF6","IKBKG","IL2RB","LAT","MAGT1","MCM10","PIK3CD","PIK3R1","PTEN","REL","TPP2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SEVERE_EPSTEIN_BARR_VIRUS_INFECTION":{"collection":"C5:HPO","systematicName":"M47271","pmid":"","exactSource":"HP:0031693","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031693","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEVERE_EPSTEIN_BARR_VIRUS_INFECTION","geneSymbols":["DNASE2","PIK3CD","PIK3R1","PTEN","SH2D1A","XIAP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_EAR_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M47272","pmid":"","exactSource":"HP:0031703","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031703","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_EAR_MORPHOLOGY","geneSymbols":["A2ML1","AARS1","AASS","ABCA12","ABCA4","ABCC1","ABCC6","ABCC8","ABHD5","ACAN","ACBD5","ACER3","ACOX1","ACP5","ACTA1","ACTB","ACTG1","ACTG2","ACVR1","ADA","ADA2","ADAM17","ADAMTS18","ADAMTS2","ADAMTS3","ADAMTSL1","ADAMTSL2","ADAR","ADAT3","ADGRG6","ADGRV1","ADNP","ADSL","AEBP1","AFF2","AFF3","AFF4","AGA","AGBL5","AGO1","AGO2","AGPAT2","AGR2","AGRN","AHDC1","AHI1","AHR","AHSG","AIFM1","AIP","AIRE","AK2","AKT1","ALDH18A1","ALDH1A2","ALG12","ALG13","ALG2","ALG3","ALG6","ALG8","ALG9","ALKBH8","ALMS1","ALOX12B","ALOXE3","ALX1","ALX3","ALX4","AMER1","AMMECR1","AMPD2","ANAPC1","ANAPC7","ANK1","ANKH","ANKRD11","ANO1","ANTXR1","ANTXR2","AP1G1","AP1S2","AP3B1","AP3D1","AP4E1","APC","APC2","ARHGAP29","ARHGEF18","ARHGEF38","ARID1A","ARID1B","ARID2","ARL13B","ARL2BP","ARL3","ARL6","ARMC9","ARSG","ARSL","ARVCF","ARX","ASH1L","ASNS","ASPRV1","ASXL1","ASXL2","ASXL3","ATIC","ATN1","ATP2B1","ATP6AP2","ATP6V0A2","ATP6V1A","ATP6V1B2","ATP6V1E1","ATR","ATRIP","ATRX","AUTS2","B3GALNT2","B3GALT6","B3GAT3","B3GLCT","B4GALT1","B4GALT7","B4GAT1","B9D1","B9D2","BAP1","BAZ1B","BBIP1","BBS1","BBS10","BBS12","BBS2","BBS4","BBS5","BBS7","BBS9","BCL11A","BCL11B","BCL7B","BCOR","BCR","BEST1","BHLHA9","BICD2","BICRA","BIN1","BLM","BLNK","BLTP1","BMP1","BMP2","BMP4","BMPER","BMPR1A","BPTF","BRAF","BRCA1","BRCA2","BRCC3","BRD4","BRF1","BRIP1","BRPF1","BRWD3","BSCL2","BSND","BTK","BUB1","BUB1B","BUB3","BUD23","C12orf57","C1QB","C2CD3","C4B","CA2","CA4","CACNA1B","CACNA1C","CACNA1G","CACNA2D1","CAMK2A","CAMK2G","CAMKMT","CAMTA1","CANT1","CAPN15","CARMIL2","CARS1","CASK","CASZ1","CAV1","CBL","CBY1","CC2D2A","CCBE1","CCDC103","CCDC22","CCDC32","CCDC39","CCDC40","CCDC47","CCDC50","CCDC65","CCDC8","CCND1","CCNK","CCNO","CCNQ","CD19","CD247","CD3D","CD3E","CD3G","CD4","CD79A","CD79B","CD81","CD96","CDC42","CDC42BPB","CDC45","CDC6","CDCA7","CDH1","CDH11","CDH2","CDH23","CDHR1","CDK10","CDK13","CDK5RAP2","CDKN1C","CDT1","CENPE","CENPF","CENPJ","CEP104","CEP120","CEP152","CEP19","CEP290","CEP41","CEP55","CEP57","CEP78","CERKL","CFAP221","CFAP298","CFAP300","CFAP418","CFAP45","CFAP52","CFAP74","CFI","CHAMP1","CHAT","CHD3","CHD4","CHD5","CHD7","CHD8","CHMP1A","CHN1","CHRNA1","CHRNA7","CHRND","CHRNG","CHST14","CHST3","CHSY1","CHUK","CIB2","CIITA","CILK1","CIT","CLCF1","CLCN3","CLCN7","CLCNKA","CLCNKB","CLIC2","CLIP2","CLRN1","CLTC","CNGA1","CNGB1","CNOT1","CNOT2","CNOT3","CNTNAP1","COBLL1","COCH","COG1","COG5","COG7","COL11A1","COL11A2","COL13A1","COL1A1","COL1A2","COL2A1","COL3A1","COL4A1","COL4A6","COL5A1","COL6A1","COL6A2","COL6A3","COL7A1","COLEC10","COLEC11","COMT","COQ6","CORO1A","COX7B","CPE","CPLANE1","CPLX1","CPOX","CPT2","CR2","CRB1","CREB3L1","CREBBP","CRKL","CRLF1","CRPPA","CRX","CSGALNACT1","CSNK2A1","CSPP1","CTBP1","CTCF","CTH","CTLA4","CTNND1","CTNND2","CTSD","CTSK","CTU2","CUL4B","CUL7","CUX1","CWC27","CXCR4","CYBA","CYBB","CYBC1","CYP4F22","DACT1","DAG1","DCAF17","DCHS1","DCLRE1C","DCPS","DDB1","DDR2","DDX11","DDX3X","DDX59","DDX6","DEAF1","DENND5A","DHCR24","DHCR7","DHDDS","DHODH","DHPS","DHX16","DHX30","DHX37","DHX38","DIAPH3","DIS3L2","DLG1","DLK1","DLL3","DLST","DLX4","DLX5","DNA2","DNAAF1","DNAAF11","DNAAF2","DNAAF3","DNAAF4","DNAAF5","DNAAF6","DNAH1","DNAH11","DNAH5","DNAH9","DNAI1","DNAI2","DNAJB13","DNAJC21","DNAJC30","DNAL1","DNM1","DNMT3A","DNMT3B","DOCK2","DOCK6","DOCK7","DOCK8","DOK7","DONSON","DPF2","DPH1","DPH2","DPP6","DPP9","DPYD","DPYSL5","DRC1","DSE","DSP","DST","DVL1","DVL3","DYNC2LI1","DYRK1A","DZIP1L","EBF3","EBP","ECE1","EDEM3","EDN1","EDNRA","EED","EEF1A2","EFEMP2","EFL1","EFTUD2","EGFR","EHMT1","EIF2S3","EIF3F","EIF4A3","EIF4H","EIF5A","ELANE","ELMO2","ELMOD3","ELN","EMC1","ENPP1","EP300","EPAS1","EPG5","ERBB3","ERCC1","ERCC2","ERCC3","ERCC4","ERCC5","ERCC6","ERCC8","ERF","ERLIN2","ERMARD","ESCO2","ESPN","ESRP1","ESRRB","ETFA","ETFB","ETFDH","EVC","EVC2","EXOC2","EXOC7","EXOSC2","EXOSC9","EXT1","EXT2","EYA1","EYA4","EYS","EZH2","FAM149B1","FAM161A","FAM20C","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FAR1","FAT4","FBLN5","FBN1","FBN2","FBXL4","FBXO11","FBXW11","FBXW7","FCGR3A","FDFT1","FGD1","FGF10","FGF20","FGF3","FGF9","FGFR1","FGFR2","FGFR3","FGFRL1","FH","FHL1","FIBP","FIG4","FKBP14","FKBP6","FKRP","FKTN","FLI1","FLII","FLNA","FLNB","FMR1","FN1","FOCAD","FOXF1","FOXG1","FOXI1","FOXJ1","FOXL2","FOXP1","FOXP2","FRA10AC1","FRAS1","FREM1","FREM2","FRMD4A","FRMPD4","FSCN2","FTSJ1","FUCA1","FZD2","G6PC3","GABRA3","GABRD","GAD1","GALNT2","GAS2L2","GAS8","GATA1","GATA2","GATA4","GBA1","GDF11","GDF5","GDF6","GFRA1","GJA1","GJA5","GJA8","GJB2","GJB3","GJB4","GJB6","GK","GLB1","GLE1","GLI2","GLI3","GLIS3","GLRA2","GLUL","GMNN","GNAI3","GNB1","GNB2","GNE","GNPTAB","GNS","GON7","GP1BB","GPC3","GPC4","GPC6","GPKOW","GPR101","GPRASP2","GPT2","GPX4","GRB10","GREB1L","GRHL3","GRIA3","GRIA4","GRIP1","GSC","GTF2E2","GTF2H5","GTF2I","GTF2IRD1","GTF2IRD2","GTPBP2","GUCA1B","GUSB","H19","H3-3A","H4C3","H4C5","H4C9","HAAO","HARS1","HAX1","HBA1","HBA2","HCCS","HDAC4","HDAC6","HDAC8","HEATR3","HECTD4","HECW2","HELLS","HEPHL1","HERC1","HES7","HGSNAT","HHAT","HIRA","HIVEP2","HLA-B","HLA-DPA1","HLA-DPB1","HLA-DRB1","HMGA2","HMGB3","HMX1","HNRNPH1","HNRNPK","HOXA13","HOXA2","HOXB1","HOXD13","HRAS","HS2ST1","HS6ST2","HSD17B4","HSPA9","HSPG2","HUWE1","HYAL1","HYDIN","HYLS1","HYMAI","ICOS","IDH1","IDH3A","IDH3B","IDS","IDUA","IFIH1","IFT122","IFT140","IFT172","IFT27","IFT52","IFT74","IFT81","IFT88","IGBP1","IGF1R","IGF2","IGHG2","IGHM","IGKC","IGLL1","IKBKB","IKBKG","IL11RA","IL17RA","IL1RAPL1","IL21R","IL2RB","IL2RG","IL6R","IL6ST","IL7R","IMPDH1","IMPG1","IMPG2","INPP5E","INPPL1","INSR","INTS1","INTU","IPO8","IQSEC2","IREB2","IRF2BP2","IRF6","IRX5","ITCH","ITGA3","ITGA6","ITGA8","ITGB4","ITGB6","JAG1","JAGN1","JAK3","JARID2","JMJD1C","JUP","KANSL1","KARS1","KAT5","KAT6A","KAT6B","KAT8","KATNB1","KATNIP","KCNAB2","KCNH1","KCNJ1","KCNJ10","KCNJ11","KCNJ2","KCNJ5","KCNK4","KCNK9","KCNMA1","KCNN3","KCNQ1","KCNQ1OT1","KCTD1","KDM3B","KDM4B","KDM5B","KDM5C","KDM6A","KDM6B","KDSR","KIAA0586","KIAA0753","KIAA1549","KIF11","KIF14","KIF15","KIF1A","KIF1B","KIF21A","KIF26A","KIF7","KIFBP","KIZ","KLF13","KLHL40","KLHL41","KLHL7","KMT2A","KMT2B","KMT2C","KMT2D","KMT5B","KNSTRN","KRAS","KYNU","LAGE3","LARGE1","LARP7","LAS1L","LBR","LETM1","LFNG","LGI4","LIFR","LIG1","LIG4","LIMK1","LIPN","LMBRD1","LMBRD2","LMNA","LMNB1","LMOD3","LMX1B","LONP1","LRAT","LRBA","LRP2","LRP4","LRP5","LRPPRC","LRRC56","LRRC8A","LSM11","LSS","LUZP1","LZTFL1","LZTR1","MAB21L1","MACF1","MAD1L1","MAD2L2","MADD","MAF","MAFB","MAGEL2","MAGT1","MAK","MAN1B1","MAN2B1","MAN2C1","MAP1B","MAP2K1","MAP2K2","MAP3K7","MAPK1","MAPK8IP3","MAPRE2","MARS1","MARS2","MASP1","MAX","MBD5","MBTPS1","MBTPS2","MCIDAS","MCM5","MCTP2","MDH2","MECP2","MED12","MED13L","MED25","MED27","MEF2C","MEG3","MEGF8","MEIS2","MEOX1","MERTK","MESD","MESP2","METTL27","METTL5","MGAT2","MGP","MID1","MID2","MINPP1","MITF","MKKS","MKS1","MLXIPL","MMACHC","MMP23B","MN1","MNS1","MPDU1","MPDZ","MPLKIP","MRAS","MRPL12","MRPS14","MRPS16","MRPS2","MRPS22","MRPS28","MRTFA","MS4A1","MSL3","MSX1","MSX2","MT-TS2","MTHFR","MUSK","MVK","MYCN","MYH3","MYMX","MYO18B","MYO7A","MYO9A","MYOD1","MYSM1","NAA10","NAA20","NALCN","NANS","NARS1","NARS2","NBN","NCF1","NCF2","NCF4","NCKAP1L","NDE1","NDP","NDST1","NDUFB11","NEB","NECTIN1","NEK1","NEK10","NEK2","NEK9","NELFA","NEU1","NEXMIF","NF1","NF2","NFIA","NFIX","NFKB1","NFKB2","NFKBIA","NGLY1","NHS","NIN","NIPA1","NIPA2","NIPAL4","NIPBL","NKAP","NKX2-1","NME5","NME8","NOG","NOTCH2","NOTCH2NLC","NOTCH3","NPHP1","NR2E3","NR2F1","NRAS","NRCAM","NRL","NSD1","NSD2","NSDHL","NSRP1","NSUN2","NTNG2","NUP107","NUP133","NUP188","NUP85","NUP88","NXN","OBSL1","OCLN","OCRL","ODAD1","ODAD2","ODAD3","ODAD4","ODC1","OFD1","OGT","OPHN1","ORC1","ORC4","ORC6","OSGEP","OSTM1","OTOF","OTUD5","OTUD6B","OTX2","P4HA2","PACS1","PAFAH1B1","PAH","PAICS","PAK1","PAK3","PALB2","PAM16","PAX1","PAX7","PBX1","PCARE","PCDH15","PCDHGC4","PCGF2","PCLO","PCNT","PCYT1A","PDE4D","PDE6A","PDE6B","PDE6D","PDE6G","PDGFRA","PDPN","PDZD7","PDZD8","PEPD","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PGAP1","PGAP2","PGAP3","PGM1","PGM2L1","PGM3","PHACTR1","PHF6","PHGDH","PHIP","PHOX2B","PI4KB","PIBF1","PIEZO1","PIEZO2","PIGA","PIGB","PIGG","PIGH","PIGK","PIGL","PIGN","PIGO","PIGQ","PIGS","PIGT","PIGU","PIGV","PIGW","PIGY","PIK3C2A","PIK3CA","PIK3CD","PIK3CG","PIK3R1","PITX1","PKHD1","PLAA","PLAG1","PLAGL1","PLCB4","PLCG2","PLCH1","PLEC","PLG","PLK4","PLOD1","PLOD3","PLVAP","PLXNA1","PLXND1","PMM2","PNP","PNPLA6","POC1A","POGZ","POLA1","POLE","POLR1A","POLR1B","POLR1C","POLR1D","POLR3A","POMGNT1","POMGNT2","POMK","POMT1","POMT2","POR","PORCN","POU3F3","POU3F4","POU4F1","PPM1B","PPM1D","PPP1CB","PPP1R12A","PPP1R15B","PPP1R21","PPP2R3C","PPP2R5D","PQBP1","PRCD","PRDM16","PRDM5","PRDX1","PREPL","PRIM1","PRKAR1B","PRKCD","PRKCZ","PRKDC","PRKG2","PROM1","PRORP","PRPF3","PRPF31","PRPF4","PRPF6","PRPF8","PRPH2","PRPS1","PRR12","PRRX1","PRTN3","PRUNE1","PSAT1","PSMB8","PSMC3","PSMD12","PTCH1","PTDSS1","PTEN","PTF1A","PTH1R","PTPN11","PTPN22","PTPRF","PUF60","PUM1","PURA","PUS7","PYCR1","PYCR2","QARS1","QRICH1","RAB11B","RAB18","RAB23","RAB3GAP1","RAB3GAP2","RAB5IF","RAC1","RAC2","RAD21","RAD51","RAD51C","RAF1","RAG1","RAG2","RAI1","RALA","RALGAPA1","RAPSN","RARB","RASA2","RB1","RBBP8","RBM10","RBM8A","RBMX","RBP3","RDH11","RDH12","RECQL","RECQL4","REEP6","RELB","RELN","RERE","RET","RFC2","RFWD3","RFX5","RFX7","RFXANK","RFXAP","RGR","RHO","RHOBTB2","RIC1","RIPK4","RIPPLY2","RIT1","RLBP1","RMRP","RNASEH2A","RNASEH2B","RNASEH2C","RNF113A","RNF168","RNF2","RNU4ATAC","RNU7-1","ROBO1","ROM1","ROR2","RP1","RP1L1","RP2","RP9","RPE65","RPGR","RPGRIP1","RPGRIP1L","RPL10","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS23","RPS24","RPS26","RPS27","RPS28","RPS29","RPS6KA3","RPS7","RRAS","RRAS2","RREB1","RSPH1","RSPH3","RSPH4A","RSPH9","RSPO2","RSPRY1","RTL1","RTTN","RUNX2","RUSC2","RXYLT1","RYR1","SAG","SALL1","SALL4","SAMHD1","SATB1","SATB2","SBDS","SC5D","SCAPER","SCARF2","SCLT1","SCN4A","SCNM1","SCYL2","SDCCAG8","SDHA","SDHAF2","SDHB","SDHC","SDHD","SDR9C7","SEC24C","SEMA3E","SEMA4A","SEMA5A","SEPTIN9","SET","SETBP1","SETD1A","SETD2","SETD5","SF3B2","SF3B4","SGMS2","SH2B1","SH3KBP1","SH3PXD2B","SHANK3","SHOC2","SIAH1","SIM1","SIN3A","SIX1","SIX2","SIX5","SKI","SKIC3","SLC12A2","SLC12A6","SLC16A2","SLC18A3","SLC1A4","SLC25A1","SLC25A11","SLC25A12","SLC25A24","SLC26A2","SLC26A4","SLC2A1","SLC2A10","SLC35C1","SLC37A4","SLC39A7","SLC39A8","SLC3A1","SLC5A7","SLC6A17","SLC6A8","SLC6A9","SLC7A14","SLC9A6","SLF2","SLX4","SMAD2","SMAD4","SMARCA2","SMARCB1","SMARCD1","SMARCD2","SMC1A","SMC3","SMC5","SMCHD1","SMG8","SMG9","SMOC1","SMPD4","SMS","SNAP25","SNAP29","SNRNP200","SNRPB","SNX10","SOD1","SON","SOS1","SOS2","SOST","SOX10","SOX11","SOX4","SOX5","SOX6","SOX9","SP7","SPAG1","SPART","SPATA7","SPECC1L","SPEF2","SPEG","SPEN","SPI1","SPINT2","SPOP","SPRED1","SPRED2","SPTBN1","SRCAP","SRD5A3","SRP54","SRY","SSR4","STAC3","STAG1","STAG2","STAMBP","STAT3","STEEP1","STK36","STRA6","STT3A","STX1A","STXBP1","SUFU","SULT2B1","SUOX","SUPT16H","SUZ12","SYK","SYNE1","SYNGAP1","SYT2","TAB2","TAF1","TAFAZZIN","TALDO1","TAOK1","TAP1","TAP2","TAPBP","TAPT1","TARS1","TASP1","TBC1D20","TBC1D23","TBC1D24","TBCD","TBCE","TBL1XR1","TBL2","TBR1","TBX1","TBX15","TBX2","TBX22","TBX4","TCF20","TCF3","TCF4","TCIRG1","TCOF1","TCTN1","TCTN2","TCTN3","TELO2","TENM3","TET3","TFAP2A","TFAP2B","TFE3","TGDS","TGFB3","TGM1","THOC1","THOC2","THUMPD1","TIMM8A","TLK2","TLR8","TMCO1","TMEM107","TMEM127","TMEM138","TMEM147","TMEM165","TMEM216","TMEM218","TMEM231","TMEM237","TMEM260","TMEM270","TMEM67","TMEM70","TMEM94","TMIE","TNFRSF11A","TNFRSF13B","TNFRSF13C","TNFSF11","TNFSF12","TNNI2","TNNT3","TNPO2","TNRC6B","TOE1","TOGARAM1","TOPORS","TOR1A","TP53RK","TP63","TP73","TPM2","TPM3","TPP2","TPRKB","TRAC","TRAF7","TRAIP","TRAPPC9","TREX1","TRIM32","TRIO","TRIP11","TRIP12","TRIP13","TRMT1","TRMT10A","TRPS1","TRPV4","TRPV6","TRRAP","TSHZ1","TSPEAR","TSR2","TTC12","TTC26","TTC5","TTC8","TTI2","TTN","TUB","TUBA1A","TUBB","TUBB3","TUBG1","TUBGCP2","TUBGCP4","TUBGCP6","TULP1","TWIST1","TWIST2","TXNDC15","TXNL4A","UBA1","UBA2","UBB","UBE2A","UBE2T","UBE3B","UBE4B","UBR7","UFC1","UFD1","UGDH","UGP2","UMPS","UNC119","UNC80","UPF3B","UQCRH","USB1","USH1C","USH1G","USH2A","USP26","USP48","USP7","USP9X","VAC14","VAMP1","VANGL2","VARS1","VHL","VIPAS39","VPS13B","VPS33B","VPS35L","VPS37A","VPS37D","VPS51","VPS53","VSX1","WAC","WARS1","WARS2","WAS","WASHC4","WASHC5","WBP11","WDPCP","WDR19","WDR26","WDR35","WDR37","WDR4","WDR73","WFS1","WHRN","WIPF1","WLS","WNT3","WNT4","WNT5A","WNT7A","WNT7B","WNT9B","XRCC2","XYLT1","XYLT2","YME1L1","YRDC","YWHAE","YY1","ZBTB18","ZBTB20","ZBTB24","ZC4H2","ZDHHC9","ZEB2","ZIC2","ZIC3","ZMIZ1","ZMPSTE24","ZMYM2","ZMYND10","ZMYND11","ZNF148","ZNF292","ZNF341","ZNF407","ZNF408","ZNF423","ZNF462","ZNF469","ZNF513","ZNF526","ZNF668","ZNF699","ZNF711","ZNHIT3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_COMPENSATORY_HEAD_POSTURE":{"collection":"C5:HPO","systematicName":"M41547","pmid":"","exactSource":"HP:0031705","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031705","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_COMPENSATORY_HEAD_POSTURE","geneSymbols":["CABP4","CACNA1F","CACNA2D4","COL25A1","GNAT1","GNB3","GPR179","GRK1","GRM6","KIF21A","LRIT3","NYX","PDE6B","PHOX2A","RHO","SAG","SLC24A1","TRPM1","TUBA1A","TUBB2B","TUBB3","ZFHX4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_ASCENDING_AORTA_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M45488","pmid":"","exactSource":"HP:0031784","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031784","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ASCENDING_AORTA_MORPHOLOGY","geneSymbols":["ACTA2","COL3A1","ELN","EMILIN1","FBN1","FOXE3","GATA5","GNB2","HEY2","LOX","MAT2A","MFAP5","MYH11","MYLK","NKX2-5","NOTCH1","PRKG1","ROBO4","SMAD2","SMAD3","SMAD4","SMAD6","TGFB2","TGFB3","TGFBR1","TGFBR2","THSD4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RECURRENT":{"collection":"C5:HPO","systematicName":"M43515","pmid":"","exactSource":"HP:0031796","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031796","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT","geneSymbols":["ADORA2A","BCKDHA","BCKDHB","DBT","PTH","SMC1A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_BASOPHIL_COUNT":{"collection":"C5:HPO","systematicName":"M43516","pmid":"","exactSource":"HP:0031806","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031806","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BASOPHIL_COUNT","geneSymbols":["ASXL1","BACH2","KIT","SRSF2","TET2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_ORAL_PHYSIOLOGY":{"collection":"C5:HPO","systematicName":"M38500","pmid":"","exactSource":"HP:0031815","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031815","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ORAL_PHYSIOLOGY","geneSymbols":["ACTA1","ADGRG1","ADNP","ADSS1","ALS2","ANG","ANKLE2","ANXA11","AP4B1","AP4E1","AP4M1","AP4S1","ARX","ATP10A","ATP1A3","ATP6AP2","ATP7B","ATRX","ATXN2","AXIN2","BANK1","BCOR","BCORL1","BLK","C4A","C4B","CACNA1I","CAMTA1","CAV1","CCN2","CCNF","CCR6","CERT1","CFAP410","CFTR","CHAMP1","CHCHD10","CHMP2B","CHRM3","CHRNA1","CLDN10","CLDN11","COLQ","CR2","CTLA4","DAO","DCTN1","DEAF1","DLAT","DLK1","DNASE1","DNM1L","EDA","EDARADD","EIF2S3","ELOVL1","EPHA4","ERBB4","ETS1","EXTL3","F10","F13A1","F13B","F2","F5","F8","FARS2","FBLN1","FBXO28","FCGR2B","FCGR3B","FGF10","FGFR1","FGFR2","FGFR3","FIG4","FIP1L1","FOXG1","FOXP1","FOXP2","FUS","GABBR2","GABRA1","GABRG2","GCH1","GFM2","GLE1","GLT8D1","GNAI3","GNS","GPT2","GRIK2","GRIN1","GRIN2A","GRIN2D","GSN","H4C5","HACD1","HDAC4","HERC1","HIVEP2","HLA-B","HLA-DRB1","HNRNPA1","HNRNPH2","HOXB1","HPDL","IDS","IGHG1","IKZF1","IL10","IRAK1","IRF2BP2","IRF5","IRF6","ITGA7","ITGAM","JAZF1","KANSL1","KCNC2","KIAA0319L","KIF15","KIF23","KIF7","LAMA2","LAMB2","LBR","LMNB2","LNPK","LPIN1","LRP6","MAGEL2","MAP3K20","MAT1A","MATR3","MBD5","MECP2","MED12","MED27","MEG3","MRE11","MSX1","MT-CO1","MT-CO3","MTHFS","MTRFR","MYL2","NAA20","NABP1","NALCN","NAXD","NECTIN1","NEFH","NEK1","NEXMIF","NFIX","NOD2","NONO","NPM1","NRXN1","NTNG2","NUMA1","OBSCN","OCA2","OPTN","P4HA2","PAK3","PAX9","PCDH19","PCGF2","PDCD1","PDE10A","PFN1","PI4KA","PIGL","PLA2G6","PML","PMP22","POLR3A","POLR3B","PON1","PON2","PON3","POU3F3","PPARGC1A","PPP2R5D","PRKAR1A","PRPH","PRPS1","PTPN22","PTS","PXK","PYGM","PYROXD1","QDPR","RAB11B","RACGAP1","RARA","RSRC1","RTL1","SATB1","SATB2","SCN1A","SCN1B","SCN2A","SCN9A","SCNN1A","SCNN1B","SCNN1G","SELENBP1","SELENON","SERPINE1","SERPING1","SETD5","SH3TC2","SHMT2","SIM1","SLC12A2","SLC12A5","SLC16A2","SLC1A4","SLC25A12","SLC39A14","SLC9A6","SLC9A7","SMARCA2","SNRPN","SOD1","SPART","SPEN","SPP1","SPTBN1","SQSTM1","SRPX2","STAT3","STAT4","STAT5B","STRADA","SUMO1","SYNGAP1","TAF15","TANGO2","TARDBP","TASP1","TBK1","TBL1XR1","TBX1","TGFA","TH","TLR7","TNFAIP3","TNFSF4","TNIP1","TP63","TPM2","TPM3","TREM2","TREX1","TSPOAP1","TUBB2B","TUBB3","UBE2L3","UBE3A","UBQLN2","UNC13A","VAC14","VAPB","VCP","VPS13A","WAS","WNT10A","WNT10B","ZBTB11","ZBTB16","ZC4H2","ZEB2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DECREASED_CIRCULATING_PARATHYROID_HORMONE_LEVEL":{"collection":"C5:HPO","systematicName":"M43517","pmid":"","exactSource":"HP:0031817","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031817","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_CIRCULATING_PARATHYROID_HORMONE_LEVEL","geneSymbols":["AIRE","CASR","CYP24A1","GCM2","PTH","SLC34A1","SLC34A3","TBCE","TBX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INCREASED_WAIST_TO_HIP_RATIO":{"collection":"C5:HPO","systematicName":"M47273","pmid":"","exactSource":"HP:0031819","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031819","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_WAIST_TO_HIP_RATIO","geneSymbols":["ABCC8","ADRB3","AGRP","AKT2","CARTPT","ENPP1","GCK","GHRL","GPD2","HMGA1","HNF1A","HNF1B","HNF4A","IGF2BP2","IL6","IRS1","IRS2","KCNJ11","LIPC","MAPK8IP1","MTNR1B","NEUROD1","NR0B2","PAX4","PDX1","POMC","PPARG","PPP1R3A","PTPN1","RETN","SDC3","SLC2A2","SLC30A8","TCF7L2","UCP3","WFS1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_REFLEX":{"collection":"C5:HPO","systematicName":"M38502","pmid":"","exactSource":"HP:0031826","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031826","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_REFLEX","geneSymbols":["AAAS","AARS1","AARS2","AASS","ABAT","ABCA1","ABCA4","ABCB7","ABCC8","ABCC9","ABCD1","ABHD12","ABHD16A","ABHD5","ACADM","ACAT1","ACD","ACER3","ACO2","ACOX1","ACSL4","ACTA1","ACTL6B","ADAR","ADCY5","ADCY6","ADGRG1","ADPRS","ADSL","ADSS1","AFG3L2","AGBL5","AGRN","AGTPBP1","AHI1","AHR","AIFM1","AIMP2","AK9","ALDH18A1","ALDH4A1","ALDH5A1","ALG1","ALG11","ALG14","ALG2","ALG3","ALG6","ALG9","ALS2","AMACR","AMFR","AMPD1","AMPD2","AMT","ANKLE2","ANO10","ANXA11","AP1S2","AP3B2","AP4B1","AP4E1","AP4M1","AP4S1","AP5Z1","APOB","APOE","APTX","AR","ARHGEF18","ARHGEF2","ARL2BP","ARL3","ARL6","ARL6IP1","ARSA","ARSI","ARV1","ARX","ASAH1","ASCC1","ASNS","ASPA","ASPM","ATAD1","ATG5","ATL1","ATL3","ATM","ATN1","ATP11A","ATP13A2","ATP1A1","ATP1A2","ATP1A3","ATP2A1","ATP2B3","ATP5MC3","ATP5MK","ATP6AP2","ATP6V1A","ATP6V1B2","ATP7A","ATP8A2","ATP9A","ATRX","ATXN1","ATXN10","ATXN2","ATXN3","ATXN7","ATXN8OS","AUH","AUTS2","B3GALNT2","B4GALNT1","B4GAT1","BAG3","BAZ1B","BBS1","BBS2","BCAS3","BCAT2","BCL7B","BCS1L","BEAN1","BEST1","BICD2","BIN1","BRAT1","BRCA1","BRCA2","BRIP1","BSCL2","BSND","BUD23","C19orf12","C4A","CA4","CA8","CACNA1A","CACNA1B","CACNA1E","CACNA1G","CACNA1S","CACNA2D1","CADM3","CAMLG","CAMSAP1","CAMTA1","CAPN1","CARS1","CARS2","CASK","CAV1","CAV3","CC2D2A","CCDC47","CCDC88A","CCDC88C","CCR1","CCT5","CD40LG","CD59","CDC40","CDHR1","CDK19","CDK5","CDK5RAP2","CDK6","CELF2","CENPE","CENPJ","CEP135","CEP152","CEP63","CERKL","CFAP418","CFL2","CHAT","CHCHD10","CHCHD2","CHKA","CHMP1A","CHMP2B","CHP1","CHRNA1","CHRNB1","CHRND","CHRNE","CIT","CLCNKA","CLCNKB","CLDN11","CLIP2","CLN5","CLP1","CLPB","CLRN1","CLTC","CLTRN","CNBP","CNGA1","CNGB1","CNKSR2","CNP","CNTN1","CNTNAP1","CNTNAP2","COA7","COASY","COG4","COG5","COG7","COL12A1","COL13A1","COL25A1","COL4A1","COLQ","COPB2","COQ2","COQ5","COQ8A","COQ9","COX10","COX11","COX20","COX4I1","COX5A","COX6A1","COX8A","CPT1A","CPT1C","CRAT","CRB1","CREBBP","CRPPA","CRX","CRYAB","CSF1R","CTDP1","CTNNA2","CTSF","CWF19L1","CYFIP2","CYP27A1","CYP2U1","CYP7B1","DAG1","DALRD3","DARS1","DARS2","DBH","DCAF8","DCC","DCTN1","DDB2","DDC","DDHD1","DDHD2","DEAF1","DEGS1","DENND5A","DES","DGUOK","DHDDS","DHH","DHTKD1","DHX16","DHX30","DHX38","DKC1","DKK1","DLAT","DMD","DNAJB2","DNAJC3","DNAJC30","DNAJC6","DNASE1L3","DNM1","DNM1L","DNM2","DNMT1","DOCK3","DOK7","DPAGT1","DPM1","DPM2","DPM3","DPYD","DST","DSTYK","DTYMK","DUOX2","DUOXA2","DYM","DYNC1H1","DYNC1I2","DYSF","EARS2","EEF1A2","EEF2","EGR2","EIF2AK2","EIF2S3","EIF4H","ELN","ELOVL1","ELOVL4","ELP1","ELP2","EMC1","EMD","EMILIN1","ENTPD1","EP300","ERAP1","ERBB3","ERCC1","ERCC2","ERCC3","ERCC4","ERCC5","ERCC6","ERCC8","ERGIC1","ERLIN1","ERLIN2","ETHE1","EXOC8","EXOSC1","EXOSC3","EXOSC5","EXOSC8","EXOSC9","EXTL3","EYA1","EYS","FA2H","FAM111B","FAM161A","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FAR1","FARS2","FAS","FASTKD2","FBLN5","FBN1","FBXO28","FBXO38","FBXO7","FDX2","FGD4","FGF12","FGF13","FHL1","FIG4","FKBP10","FKBP6","FKRP","FKTN","FLI1","FLII","FLNC","FLRT1","FLVCR1","FMR1","FRMPD4","FSCN2","FTL","FUCA1","FUS","FUZ","FXN","FXR1","FZR1","GAA","GABBR2","GABRA2","GABRA3","GABRA5","GABRB2","GABRG2","GAD1","GALC","GAMT","GAN","GARS1","GBA1","GBA2","GBE1","GBF1","GCH1","GCLC","GDAP1","GDAP2","GEMIN4","GEMIN5","GFAP","GFER","GFM1","GFM2","GFPT1","GGT1","GIPC1","GJA1","GJB1","GJC2","GLB1","GLDC","GLE1","GLRA1","GLRB","GLRX5","GLUL","GLYCTK","GM2A","GMPPA","GMPPB","GNAQ","GNAS","GNB1","GNB2","GNB4","GNE","GNPTAB","GNS","GOLGA2","GOSR2","GPAA1","GPHN","GPT2","GRIA3","GRID2","GRIN1","GRIN2A","GRIN2D","GRM1","GRM7","GRN","GTF2E2","GTF2H5","GTF2I","GTF2IRD1","GTF2IRD2","GTPBP2","GUCA1B","H4C5","HACD1","HADHA","HADHB","HARS1","HCN1","HDAC4","HECTD4","HESX1","HEXB","HGSNAT","HIBCH","HIKESHI","HINT1","HK1","HLA-B","HMGCL","HNRNPDL","HNRNPK","HPDL","HPRT1","HRAS","HSD17B4","HSPB1","HSPB3","HSPB8","HSPD1","HSPG2","HTRA1","HTRA2","HTT","HUWE1","HYCC1","IARS2","IBA57","IDH3A","IDH3B","IER3IP1","IFNGR1","IFRD1","IFT140","IFT172","IFT88","IGHMBP2","IL10","IL12A","IL12A-AS1","IL23R","IL6ST","IMPDH1","IMPDH2","IMPG1","IMPG2","INF2","INPP5E","INPP5K","IQSEC2","IREB2","IRF2BPL","ISCA1","ISCA2","ISCU","ITGA7","ITPR1","ITPR3","IYD","JAG1","JAM2","JAM3","JPH1","JPH3","KARS1","KATNB1","KBTBD13","KCNA1","KCNA2","KCNA4","KCNB1","KCNC3","KCND3","KCNJ18","KCNJ6","KCNK4","KCNK9","KCNMA1","KCNQ2","KCNQ3","KCNT1","KDM1A","KDM5C","KIAA0586","KIAA1549","KIDINS220","KIF14","KIF1A","KIF1B","KIF1C","KIF5A","KIZ","KLC2","KLHL41","KLHL7","KLHL9","KLRC4","KNL1","KPNA3","KRAS","KY","L1CAM","LAMA2","LAMB2","LARGE1","LBR","LDB3","LETM1","LGI3","LGI4","LHX3","LHX4","LIFR","LIMK1","LITAF","LMNA","LMNB1","LMOD3","LPIN1","LRAT","LRP12","LRP4","LRRK1","LRRK2","LRSAM1","LYRM4","LYRM7","LYST","MAB21L1","MAD2L2","MAG","MAGEL2","MAK","MAN2B1","MAP3K20","MAPT","MARS1","MARS2","MAT1A","MATR3","MBOAT7","MCCC1","MCCC2","MCM3AP","MCM7","MCOLN1","MCPH1","MDH2","MECP2","MECR","MED17","MED25","MEFV","MEGF10","MERTK","METTL27","METTL5","MFF","MFN2","MFSD2A","MGME1","MICOS13","MICU1","MINPP1","MKS1","MLXIPL","MMAA","MME","MORC2","MPLKIP","MPV17","MPZ","MRE11","MRPS25","MRPS34","MSL3","MSTN","MSTO1","MT-ATP6","MT-ATP8","MT-CO1","MT-CO3","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND5","MT-ND6","MT-TE","MT-TK","MT-TL1","MT-TL2","MT-TN","MT-TS1","MT-TT","MT-TV","MT-TW","MTM1","MTMR14","MTPAP","MTRFR","MTTP","MUSK","MYF6","MYH14","MYH7","MYL1","MYL2","MYO1H","MYO9A","MYORG","MYOT","MYPN","NAA10","NAA20","NADK2","NAGA","NAGLU","NALCN","NARS1","NARS2","NCAPD3","NCF1","NDE1","NDP","NDRG1","NDUFA1","NDUFA4","NDUFA9","NDUFAF2","NDUFAF3","NDUFAF4","NDUFS1","NDUFS2","NDUFS4","NDUFS7","NDUFS8","NEB","NECAP1","NEFH","NEFL","NEK1","NEK2","NEU1","NFASC","NFIX","NGLY1","NIPA1","NKX6-2","NONO","NOP56","NOTCH2NLC","NR2E3","NR4A2","NRAS","NRCAM","NRL","NSD1","NSRP1","NSUN2","NT5C2","NTRK2","NUBPL","NUP214","NUP37","NUP54","NUP62","NUS1","OBSCN","OCA2","OCLN","OCRL","OFD1","OPA1","OPA3","ORAI1","OSTM1","PACS2","PAH","PAK3","PALB2","PANK2","PARK7","PARN","PARS2","PAX1","PAX7","PC","PCARE","PCDH12","PCLO","PCYT2","PDE6A","PDE6B","PDE6G","PDE8B","PDGFB","PDGFRB","PDHB","PDK3","PDSS1","PDXK","PDYN","PET100","PET117","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PEX7","PGAP1","PGAP2","PGAP3","PGM3","PHC1","PHYH","PI4KA","PIEZO2","PIGA","PIGB","PIGG","PIGL","PIGN","PIGO","PIGP","PIGT","PIGV","PIGW","PIGY","PIK3R5","PINK1","PITRM1","PITX3","PKDCC","PLA2G6","PLAA","PLCB1","PLEC","PLEKHG4","PLEKHG5","PLOD1","PLP1","PLXNA1","PMM2","PMP2","PMP22","PMPCA","PNKP","PNPLA2","PNPLA6","PNPT1","PODXL","POLG","POLG2","POLR3A","POLR3B","POMGNT1","POMGNT2","POMK","POMT1","POMT2","POU1F1","POU3F4","POU4F1","PPIL1","PPOX","PPP1R15B","PPP1R21","PPP2R2B","PPP2R5D","PPP3CA","PQBP1","PRCD","PRDM12","PRDM13","PRDM8","PRICKLE1","PRKCG","PRKN","PRKRA","PRNP","PROM1","PROP1","PRORP","PRPF3","PRPF31","PRPF4","PRPF6","PRPF8","PRPH","PRPH2","PRPS1","PRR12","PRRT2","PRSS12","PRUNE1","PRX","PSAP","PSAT1","PSEN1","PSMB8","PSMC1","PTF1A","PTRH2","PTS","PUS3","PYCR2","PYROXD1","QARS1","QRICH1","RAB18","RAB3GAP1","RAB3GAP2","RAB7A","RAD51","RAD51C","RAI1","RAPSN","RARS1","RARS2","RBP3","RDH12","REEP1","REEP2","REEP6","REPS1","RETREG1","RFC1","RFC2","RFT1","RFWD3","RFX7","RGR","RHO","RILPL1","RLBP1","RLIM","RMND1","RMRP","RNASEH1","RNASEH2C","RNF113A","RNF170","RNF2","RNF220","ROM1","RP1","RP1L1","RP2","RP9","RPE65","RPGR","RPGRIP1L","RRM2B","RTEL1","RTN2","RUBCN","RUSC2","RXYLT1","RYR1","SACS","SAG","SAMD9L","SAR1B","SARS1","SASS6","SBF1","SBF2","SCAPER","SCN1A","SCN3A","SCN4A","SCN8A","SCN9A","SCO2","SCYL1","SCYL2","SDHA","SDHAF1","SDHB","SDHD","SEC31A","SELENOI","SELENON","SEMA4A","SEMA6B","SEPSECS","SEPTIN9","SET","SETX","SH3TC2","SHANK3","SHMT2","SIGMAR1","SIK1","SIL1","SIM1","SLC12A2","SLC12A6","SLC13A5","SLC16A2","SLC18A2","SLC18A3","SLC19A3","SLC1A2","SLC1A3","SLC1A4","SLC20A2","SLC25A1","SLC25A12","SLC25A15","SLC25A19","SLC25A21","SLC25A22","SLC25A4","SLC25A46","SLC29A3","SLC2A1","SLC2A3","SLC31A1","SLC33A1","SLC35A1","SLC35C1","SLC38A3","SLC39A14","SLC39A8","SLC44A1","SLC46A1","SLC52A2","SLC52A3","SLC5A5","SLC5A6","SLC5A7","SLC6A19","SLC6A5","SLC6A9","SLC7A14","SLC9A1","SLC9A7","SLX4","SMC5","SMG9","SMN1","SMN2","SMPD1","SNAP25","SNAP29","SNCA","SNIP1","SNRNP200","SNRPN","SNX14","SOD1","SOX10","SPART","SPAST","SPATA7","SPEG","SPG11","SPG21","SPG7","SPR","SPTAN1","SPTBN1","SPTBN2","SPTBN4","SPTLC1","SPTLC2","SQSTM1","SRPX2","ST3GAL3","ST3GAL5","STAC3","STAT4","STIL","STIM1","STUB1","STX16","STX1A","SUCLA2","SUCLG1","SUMF1","SURF1","SYNE1","SYNE2","SYNGAP1","SYNJ1","SYT2","SZT2","TAF1","TAF13","TAF2","TANGO2","TAOK1","TARDBP","TARS1","TBC1D20","TBC1D23","TBC1D24","TBCD","TBCK","TBK1","TBL2","TBX4","TCAP","TCEAL1","TCTN2","TDP1","TECPR2","TERT","TFG","TG","TGM6","TH","TICAM1","TIMM50","TIMM8A","TINF2","TK2","TLR3","TLR4","TMCO1","TMEM106B","TMEM240","TMEM270","TMEM43","TMEM63A","TMEM63C","TMEM67","TMX2","TNNT1","TNR","TOE1","TOPORS","TOR1A","TPI1","TPM2","TPM3","TPO","TPP1","TRAF3","TRAK1","TRAPPC10","TRAPPC11","TRAPPC14","TRAPPC6B","TREM2","TREX1","TRIM2","TRIM32","TRIM37","TRIM8","TRIO","TRIP4","TRMT10A","TRMT5","TRMU","TRPV4","TRRAP","TSEN15","TSEN2","TSEN34","TSEN54","TSHB","TSHR","TSPOAP1","TSPYL1","TTBK2","TTC19","TTC8","TTN","TTPA","TTR","TUB","TUBA8","TUBB2B","TUBB3","TUBGCP2","TULP1","TWNK","TYMP","TYROBP","UBA1","UBA5","UBAC2","UBAP1","UBE2T","UBE3A","UCHL1","UFC1","UGDH","UGP2","UNC93B1","UQCRQ","UROC1","USH2A","USP8","VAC14","VAMP1","VANGL1","VAPB","VCP","VLDLR","VPS11","VPS13A","VPS13C","VPS13D","VPS33A","VPS37A","VPS37D","VRK1","VWA1","VWA3B","WARS1","WARS2","WASHC5","WDR4","WDR45","WDR62","WDR73","WDR81","WLS","WNK1","WWOX","XK","XPA","XPC","XRCC1","XRCC2","YARS1","YWHAG","ZC4H2","ZEB2","ZFR","ZFYVE26","ZFYVE27","ZNF142","ZNF408","ZNF513","ZNHIT3","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DECREASED_SERUM_ZINC":{"collection":"C5:HPO","systematicName":"M46303","pmid":"","exactSource":"HP:0031831","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031831","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_SERUM_ZINC","geneSymbols":["COL7A1","IARS1","MMP1","SLC30A2","SLC39A4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_AORTOPULMONARY_COLLATERAL_ARTERIES":{"collection":"C5:HPO","systematicName":"M46304","pmid":"","exactSource":"HP:0031834","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031834","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AORTOPULMONARY_COLLATERAL_ARTERIES","geneSymbols":["ALDH1A2","FLT4","GDF1","KCNQ2","KCNT1","PIGA","PKD1L1","PLCB1","PLXND1","SCN1A","SCN2A","SLC12A5","SLC25A22","TBC1D24","YY1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LYMPHANGIECTASIS":{"collection":"C5:HPO","systematicName":"M38503","pmid":"","exactSource":"HP:0031842","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031842","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LYMPHANGIECTASIS","geneSymbols":["ADAMTS3","CCBE1","CD55","FAT4","FOXF1","HRAS","MPI","PIEZO1","SOX18"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BRADYPHRENIA":{"collection":"C5:HPO","systematicName":"M46305","pmid":"","exactSource":"HP:0031843","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031843","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BRADYPHRENIA","geneSymbols":["CLTC","DMPK","HTT","NOTCH3","SLC2A3","VPS13A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_LIBIDO":{"collection":"C5:HPO","systematicName":"M38504","pmid":"","exactSource":"HP:0031845","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031845","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LIBIDO","geneSymbols":["ABCD1","AIP","ARMC5","ATRX","BRAF","CDH23","CDKN1A","CDKN1B","CDKN2B","CDKN2C","CHD7","DUSP6","FGF17","FGF8","FGFR1","FSHB","GNAS","GNRH1","GNRHR","HS6ST1","HTT","KISS1","KISS1R","MEN1","NHLH2","NR3C1","NSMF","PROK2","PROKR2","SLC2A3","SPRY4","TAC3","TACR3","TP53","TRANK1","USP48","USP8","WDR11"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FEMUR_FRACTURE":{"collection":"C5:HPO","systematicName":"M47274","pmid":"","exactSource":"HP:0031846","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031846","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FEMUR_FRACTURE","geneSymbols":["BICD2","LEMD2","TCIRG1","TNFRSF11A","XYLT2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_HEMATOCRIT":{"collection":"C5:HPO","systematicName":"M45489","pmid":"","exactSource":"HP:0031850","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031850","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_HEMATOCRIT","geneSymbols":["BPGM","EGLN1","EPAS1","EPO","EPOR","HBA1","HBA2","HBB","HSCB","JAK2","KLF1","SH2B3","VHL"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ISOMERISM":{"collection":"C5:HPO","systematicName":"M43518","pmid":"","exactSource":"HP:0031853","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031853","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ISOMERISM","geneSymbols":["CFC1","CIROP","DNAH9","FANCB","GDF1","NODAL","SMAD2","ZIC3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INEFFECTIVE_ESOPHAGEAL_PERISTALSIS":{"collection":"C5:HPO","systematicName":"M43519","pmid":"","exactSource":"HP:0031857","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031857","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INEFFECTIVE_ESOPHAGEAL_PERISTALSIS","geneSymbols":["AAAS","ACTB","COL4A5","COL4A6","FLVCR1","GLA","GMPPA","GUCY1A1","IARS2","IVNS1ABP","MEIS2","MYH11","MYO1H","PHOX2B","SAMD9","STAT3","TRAPPC11"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_HEART_RATE_VARIABILITY":{"collection":"C5:HPO","systematicName":"M41548","pmid":"","exactSource":"HP:0031860","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031860","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_HEART_RATE_VARIABILITY","geneSymbols":["CACNA1D","CDON","DISP1","DLL1","FGF8","FGFR1","FOXH1","GALC","GAS1","GLI2","MADD","NODAL","PHOX2B","PLCH1","PSAP","PTCH1","SHH","SIX3","SMC1A","STAG2","STIL","TDGF1","TGIF1","ZIC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BLOODSTREAM_INFECTIOUS_AGENT":{"collection":"C5:HPO","systematicName":"M41549","pmid":"","exactSource":"HP:0031863","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031863","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BLOODSTREAM_INFECTIOUS_AGENT","geneSymbols":["CD27","CTPS1","DEF6","ELANE","IKZF3","IL2RB","ITK","LAT","MAGT1","PGM3","PIK3R1","PRKCD","REL","STK4","TET2","TNFRSF9","TOM1","TPP2","TRAC"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_LIVER_PHYSIOLOGY":{"collection":"C5:HPO","systematicName":"M41550","pmid":"","exactSource":"HP:0031865","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031865","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LIVER_PHYSIOLOGY","geneSymbols":["ABCB11","ABCB4","AKR1D1","ALMS1","AMACR","AP1B1","AP1S1","ASAH1","ATP8B1","CYP7B1","FH","FOCAD","HSD3B7","IARS1","PEX14","PGM1","PKHD1","SC5D","SLC25A13","SLC2A2","SLC51A","TJP2","TMPRSS6","UBR1","VPS50","ZFYVE19"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RECURRENT_JOINT_DISLOCATION":{"collection":"C5:HPO","systematicName":"M41551","pmid":"","exactSource":"HP:0031869","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031869","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_JOINT_DISLOCATION","geneSymbols":["BPNT2","CHST14","COL1A1","COL1A2","COL5A2","DSE","IPO8","LMNA","MAB21L2","PIEZO2","PRKACB","RYR1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ACROMICRIA":{"collection":"C5:HPO","systematicName":"M38505","pmid":"","exactSource":"HP:0031878","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031878","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACROMICRIA","geneSymbols":["DLK1","GH1","HERC2","MAGEL2","MEG3","MKRN3","NPAP1","PWAR1","PWRN1","RTL1","SLC26A2","SNORD115-1","SNORD116-1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_AGYRIA":{"collection":"C5:HPO","systematicName":"M38507","pmid":"","exactSource":"HP:0031882","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031882","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AGYRIA","geneSymbols":["CDK5","CEP85L","CRPPA","DAG1","DCX","FKRP","FKTN","KIF2A","LARGE1","PAFAH1B1","POMK","POMT1","POMT2","TMTC3","TUBA1A","TUBB2B","TUBB3","TUBG1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_LDL_CHOLESTEROL_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M38508","pmid":"","exactSource":"HP:0031886","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031886","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LDL_CHOLESTEROL_CONCENTRATION","geneSymbols":["ABCA2","ABCG5","ABCG8","ALB","ALG6","ANGPTL3","APOA2","APOA5","APOB","APOC3","APOE","B4GALT1","CCDC115","CELA2A","CEP19","CYP7A1","DYRK1B","EMD","EPHX2","FDFT1","FHL1","GHR","GPIHBP1","LCAT","LDLR","LDLRAP1","LIPA","LMNA","LPL","LRP6","MSMO1","MTTP","NGLY1","PANK2","PCSK9","PPP1R17","SAR1B","SLC25A13","SLC7A7","SMPD1","SYNE1","SYNE2","TMEM199","TMEM43","TTPA"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_HDL_CHOLESTEROL_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M38509","pmid":"","exactSource":"HP:0031888","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031888","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_HDL_CHOLESTEROL_CONCENTRATION","geneSymbols":["ABCA1","ALMS1","APOA1","APOA5","APOB","APOC3","APOE","CELA2A","CEP19","CETP","CREB3L3","GALNT2","GPIHBP1","LCAT","LIPA","LIPC","LMNA","MSMO1","MTTP","PPARG","PSMB8","SLC25A13","SLC7A7","SMPD1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DECREASED_EOSINOPHIL_COUNT":{"collection":"C5:HPO","systematicName":"M46306","pmid":"","exactSource":"HP:0031891","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031891","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_EOSINOPHIL_COUNT","geneSymbols":["ATRX","BRAF","CARD10","CDH23","ELANE","NR3C1","TP53","USP48","USP8"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_COAGULATION_FACTOR_V_ACTIVITY":{"collection":"C5:HPO","systematicName":"M45490","pmid":"","exactSource":"HP:0031899","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031899","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_COAGULATION_FACTOR_V_ACTIVITY","geneSymbols":["AHCY","F5","LMAN1","MCFD2","SLC37A4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ELEVATED_TOTAL_SERUM_TRYPTASE":{"collection":"C5:HPO","systematicName":"M43520","pmid":"","exactSource":"HP:0031901","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031901","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELEVATED_TOTAL_SERUM_TRYPTASE","geneSymbols":["ASXL1","CBL","KIT","RUNX1","SRSF2","TET2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MICROGRAPHIA":{"collection":"C5:HPO","systematicName":"M38510","pmid":"","exactSource":"HP:0031908","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031908","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MICROGRAPHIA","geneSymbols":["ADH1C","ATXN2","ATXN8OS","FTL","GBA1","GLUD2","MAPT","MT-TT","NR4A2","PDGFB","PDGFRB","SLC20A2","SNCA","SNCAIP","TBP","VPS13A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CRANIAL_NERVE_PHYSIOLOGY":{"collection":"C5:HPO","systematicName":"M38511","pmid":"","exactSource":"HP:0031910","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031910","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CRANIAL_NERVE_PHYSIOLOGY","geneSymbols":["ABCA1","ACTA1","ADA2","ADCY6","ADGRG1","ADNP","AGRN","AIP","AK9","AKT1","AKT3","ALG14","ALG2","AMER1","ANGPTL6","ANKH","ANO5","ANTXR1","ASAH1","BAG3","BAP1","BICRA","BIN1","BMS1","BRCA1","BRCA2","BRIP1","BTNL2","C4A","CA2","CAPN3","CASZ1","CCDC174","CCR1","CDH23","CFL2","CHAT","CHCHD10","CHD7","CHKB","CHN1","CHRNA1","CHRNB1","CHRND","CHRNE","CLCN7","CNTNAP1","COL12A1","COL13A1","COL25A1","COL3A1","COL6A1","COL6A2","COL6A3","COLQ","CRLF1","CRPPA","CRYAB","CTLA4","DACT1","DES","DKK1","DLL4","DMPK","DNAJB6","DNASE1L3","DNM2","DOK7","DPAGT1","ENG","ERAP1","ERCC4","ESCO2","EYA1","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FAS","FKRP","FKTN","FRG1","GABRD","GAN","GFPT1","GJA1","GJC2","GLE1","GMPPB","GNE","GSN","HK1","HLA-B","HLA-DPA1","HLA-DPB1","HLA-DRB1","HMBS","HOXB1","HSPG2","IDH1","IDH2","IFNGR1","IL10","IL12A","IL12A-AS1","IL23R","IRF4","ITGB4","KBTBD13","KCNAB2","KIF1B","KLHL40","KLHL41","KLRC4","KMT2D","KY","LAMA2","LAMB2","LARGE1","LMNA","LMOD3","LMX1B","LRP12","LRP4","LRP5","LUZP1","LYST","MAD2L2","MAFB","MEFV","MEGF10","MEN1","MGME1","MMP23B","MPZ","MTM1","MTMR14","MTMR2","MTOR","MTRFR","MUSK","MYD88","MYH7","MYL2","MYMK","MYMX","MYO9A","MYPN","NAXE","NEB","NEFL","NF2","NLRP3","NOD2","NRAS","OSTM1","PABPN1","PALB2","PDGFB","PDPN","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PI4KA","PIK3CA","PLEC","PLXND1","PMP22","POLG","POLG2","POMT1","POMT2","PRDM16","PRKCZ","PRNP","PRTN3","PSAP","PTDSS1","PTEN","PTPN11","PTPN22","PTRH2","PUF60","RAD51","RAD51C","RAPSN","RERE","REV3L","RFWD3","RRM2B","RYR1","SALL1","SALL4","SCN4A","SCO2","SDHAF2","SDHB","SDHC","SDHD","SELENON","SEMA3E","SGCD","SH3TC2","SHMT2","SIX1","SIX5","SKI","SLC12A6","SLC18A3","SLC19A3","SLC25A1","SLC25A4","SLC39A14","SLC52A2","SLC52A3","SLC5A7","SLX4","SMARCB1","SMARCE1","SMCHD1","SMO","SNAP25","SNX10","SOST","SPEG","SPEN","SPTBN4","SQSTM1","SRPX2","STAG2","STAT4","SUCLA2","SUFU","SUPT16H","SYNE1","SYT2","TBC1D2B","TCIRG1","TERT","TFAP2A","TFG","TGFB1","TGFBR3","THSD1","TK2","TLR4","TMEM67","TNFRSF11A","TNFRSF1A","TNFSF11","TOR1A","TPM2","TPM3","TRAF7","TRIM32","TRPV4","TTN","TUBB3","TUBB6","TWNK","UBA1","UBA2","UBAC2","UBE2T","UBE4B","UGT1A1","VAMP1","VCP","WDR26","XRCC2","YME1L1","ZC4H2","ZFHX4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_OCULAR_FLUTTER":{"collection":"C5:HPO","systematicName":"M43521","pmid":"","exactSource":"HP:0031931","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031931","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OCULAR_FLUTTER","geneSymbols":["ATP1A2","ATP1A3","CACNA1A","SLC1A3","SLC35A2","SLC6A3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DELAYED_ABILITY_TO_WALK":{"collection":"C5:HPO","systematicName":"M38512","pmid":"","exactSource":"HP:0031936","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031936","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DELAYED_ABILITY_TO_WALK","geneSymbols":["ABCA2","ACTN2","ADARB1","ADCY5","ADGRL1","AGO1","AHDC1","AHI1","ALMS1","ALS2","AMN","AMPD2","AP1S2","AP3B2","AP4B1","AP4E1","AP4S1","ARID1B","ARL13B","ASXL3","ATG5","ATG7","ATP10A","ATP6V0A1","ATP6V1A","BCL11A","BCL11B","BRAT1","BRPF1","BSND","CADM3","CAMK2A","CASK","CCDC134","CCDC22","CDK13","CELF2","CFL2","CHAMP1","CHD3","CHMP1A","CHRNB1","CLCN3","CLCNKA","CLCNKB","CLDN11","CNKSR2","CNOT3","CNTNAP2","COASY","COG1","COL12A1","COL3A1","COPB1","CPLX1","CRBN","CREBBP","CSNK2A1","CSNK2B","CTNNB1","CUBN","CUL3","CWC27","CYP2U1","CYP3A4","DAG1","DCPS","DDOST","DHPS","DHX30","DLAT","DOCK3","DOLK","DPF2","DPM3","DPYSL5","DYNC1H1","DYNC1I2","EBF3","EIF2AK1","EIF2B4","EIF3F","EP300","ERLIN2","EXOC6B","FAR1","FASTKD2","FBLN1","FBXL3","FBXO11","FITM2","FKBP14","FLVCR1","FOXG1","FOXP1","FRMPD4","FUS","GALNS","GALNT2","GARS1","GET4","GNAI1","GNPTAB","GRIA4","GRIK2","GRIN1","H3-3A","HDAC4","HECW2","HERC2","HIVEP2","HK1","HNRNPK","HS6ST2","HUWE1","HYCC1","IFT27","INPP5E","IQSEC1","ITPR1","JAG1","KARS1","KAT6A","KDM1A","KDM3B","KDM5B","KLHL15","KMT2E","KPNA3","KPTN","LAMA2","LARGE1","LBR","LMNB1","LMNB2","LRRC32","LSS","MACF1","MAGEL2","MAPK8IP3","MARS1","MBOAT7","MCM3AP","MECP2","MEF2C","MEGF8","MID1","MKS1","MPZ","MRAS","MRPS14","MRPS25","MSL3","MTPAP","MYO9A","MYT1L","NARS1","NBEA","NCAPG2","NCDN","NDUFA1","NDUFA12","NEUROD2","NFASC","NFIX","NMNAT1","NONO","NUDT2","ODC1","OPHN1","P4HTM","PACS2","PAK1","PAK3","PCYT2","PGAP1","PGM2L1","PHEX","PIEZO2","PIGC","PIGG","PIGO","PLOD1","PLP1","PMPCA","PNPLA2","POLR1C","POLR2A","POLR3B","POMK","POMT1","PPP2CA","PPP2R5D","PRMT7","PUS7","RAB11B","RAB3GAP1","RAB3GAP2","RAD51","RAI1","RALA","RBL2","RNU12","ROGDI","RORA","RPL10","RUBCN","RUSC2","RYR1","RYR3","SATB1","SDHB","SELENON","SEMA6B","SET","SETD5","SHMT2","SHOC2","SIGMAR1","SLC12A2","SLC16A2","SLC18A2","SLC25A1","SLC25A12","SLC25A42","SLC37A4","SLC5A7","SLC9A1","SLC9A7","SMARCA2","SMARCD1","SMC1A","SNAP25","SNRPN","SON","SOX4","SPG11","SPOP","SPTLC1","SRCAP","STAG2","SYNE1","SYT1","TANGO2","TBR1","TCF20","TFG","TIMM50","TMEM106B","TMEM147","TMEM163","TMEM222","TMEM63A","TMEM94","TMTC3","TNPO3","TRAPPC10","TRAPPC9","TRIM2","TRIM8","TRIO","TRIT1","TRMT1","TRPM3","TRRAP","TTI2","UBE3A","VLDLR","WASF1","WASHC4","WDR26","WDR4","WDR45","WDR81","XYLT1","YY1","ZBTB11","ZC4H2","ZEB2","ZNF148","ZNF407","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CONUS_TERMINALIS_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M38513","pmid":"","exactSource":"HP:0031938","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031938","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CONUS_TERMINALIS_MORPHOLOGY","geneSymbols":["ARPC4","CPLX1","CREBBP","CTBP1","CTNNB1","DARS1","EXT1","EXT2","FGFRL1","HAAO","HNRNPH1","KDM1A","LETM1","MNX1","NCAPG2","NELFA","NFIA","NOTCH3","NSD2","PIGG","PIK3CA","PRMT7","RAD51","RASA1","SALL1","SUPT16H","TRAF7","TRAPPC14","VANGL1","ZMYM2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_PORTAL_VENOUS_SYSTEM_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M47275","pmid":"","exactSource":"HP:0031941","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031941","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PORTAL_VENOUS_SYSTEM_MORPHOLOGY","geneSymbols":["CTNNB1","JAK2","KCNN4","KIF20A","MET","MPL","NOTCH1","PIEZO1","PIGM","RECQL4","SERPINC1","SLC4A1","TET2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_USUAL_INTERSTITIAL_PNEUMONIA":{"collection":"C5:HPO","systematicName":"M41552","pmid":"","exactSource":"HP:0031950","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031950","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_USUAL_INTERSTITIAL_PNEUMONIA","geneSymbols":["ABCA3","MUC5B","RTEL1","SFTPA1","SFTPA2","SFTPC","TERT"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NOCTURNAL_SEIZURES":{"collection":"C5:HPO","systematicName":"M43522","pmid":"","exactSource":"HP:0031951","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031951","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NOCTURNAL_SEIZURES","geneSymbols":["CABP4","CHRNA2","CHRNA4","CHRNB2","CRH","DEPDC5","GLRA1","GPHN","GRIN2A","KCNN2","KCNT1","LGI1","NACC1","NPRL2","NPRL3","RELN","SATB1","SPTBN1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ELEVATED_CIRCULATING_ASPARTATE_AMINOTRANSFERASE_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M41553","pmid":"","exactSource":"HP:0031956","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031956","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELEVATED_CIRCULATING_ASPARTATE_AMINOTRANSFERASE_CONCENTRATION","geneSymbols":["ACOX2","AHCY","AMACR","APOB","APOE","ASL","ATP6AP1","ATP7B","B4GALT1","BAAT","CAV3","COG7","COG8","CPT1A","CPT2","CYP7B1","DEF6","DNAJC19","DOCK2","EARS2","FHL1","GALT","HADHA","HADHB","HMGCS2","HMOX1","IARS1","KIF12","LARGE1","LIPA","LYRM4","MARS1","MOGS","MPV17","MRPL3","MRPL44","MRPS2","MYO5B","NFS1","NR1H4","NSMCE2","OCRL","OTC","PEPD","PEX14","PEX16","PEX2","PGM1","PIGL","POLG2","PRKCD","SCO1","SEMA7A","SLC22A5","SLC25A13","SLC2A2","SLC37A4","SLC51B","SMPD1","SUCLG1","TMEM165","TRMT10C","TTC26","TWNK","UBR1","UQCRB","USP53","VPS13A","VPS33B","VPS50","WRN","XK"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SPASTIC_PARAPARETIC_GAIT":{"collection":"C5:HPO","systematicName":"M38514","pmid":"","exactSource":"HP:0031958","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031958","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPASTIC_PARAPARETIC_GAIT","geneSymbols":["AMPD2","ARL6IP1","ATP6AP2","ERCC6","FARS2","FBXO7","KIF1A","KIF5A","SHMT2","SLC39A14"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LEG_DYSTONIA":{"collection":"C5:HPO","systematicName":"M45491","pmid":"","exactSource":"HP:0031959","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031959","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LEG_DYSTONIA","geneSymbols":["ACTB","AOPEP","FTL","GFM2","KMT2B","PARK7","VPS16"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ARM_DYSTONIA":{"collection":"C5:HPO","systematicName":"M41554","pmid":"","exactSource":"HP:0031960","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031960","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ARM_DYSTONIA","geneSymbols":["ALS2","ANO3","AOPEP","ATP1A3","DLAT","FTL","FUS","KMT2B","SIGMAR1","SPG11","SPTLC1","SYNE1","VPS16"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ELEVATED_CIRCULATING_ALANINE_AMINOTRANSFERASE_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M41555","pmid":"","exactSource":"HP:0031964","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031964","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELEVATED_CIRCULATING_ALANINE_AMINOTRANSFERASE_CONCENTRATION","geneSymbols":["ACOX2","ADK","AHCY","ALDOA","APOB","APOE","ATP6AP1","ATP7B","BAAT","BCAT2","CNOT1","COG7","CPT1A","CPT2","CYP7B1","DEF6","DNAJC19","DOCK2","EARS2","FADD","GAA","GALT","HADHB","HMGCS2","HMOX1","IARS1","KIF12","LIPA","LYRM4","MARS1","MPV17","MRPL3","MRPL44","MRPS2","MYO5B","NFS1","NR1H4","NSMCE2","OCRL","OTC","PCK1","PEX14","PEX2","PGM1","PIGL","PKHD1","POLD1","POLG2","PRKCD","SCO1","SEMA7A","SLC22A5","SLC25A13","SLC2A2","SLC37A4","SLC51B","SMPD1","STAT2","SUCLG1","TKFC","TMEM165","TRMT10C","TRMU","TTC26","TWNK","UBR1","UQCRB","USP53","VPS13A","VPS33B","VPS50","WRN","XK"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_BLOOD_UREA_NITROGEN_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M46307","pmid":"","exactSource":"HP:0031970","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031970","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BLOOD_UREA_NITROGEN_CONCENTRATION","geneSymbols":["ADAMTS13","ATP5F1B","AVPR2","C3","CD46","CFB","CFH","CFHR1","CFHR3","CFI","CTNS","DBH","ELP1","ERCC4","ERCC6","ERCC8","FAN1","MRPS7","PIGA","SARS2","SLC22A12","SLC2A9","THBD"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_URINE_CARBOHYDRATE_LEVEL":{"collection":"C5:HPO","systematicName":"M38515","pmid":"","exactSource":"HP:0031979","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031979","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_URINE_CARBOHYDRATE_LEVEL","geneSymbols":["ACVR1B","APC","CASP10","DCXR","ERBB2","FBP1","FGFR2","FOXP2","FUCA1","GAA","GALE","GALK1","GALT","GK","GLB1","IL1B","IL1RN","IRF1","KHK","KLF6","KRAS","KRT18","MAN2B1","MANBA","MUTYH","NEU1","OCRL","PIK3CA","RPIA","SHPK","SKIC3","SLC25A13","SMAD4","SNX14","STK11","TKT","TP53"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_URINE_CARBOXYLIC_ACID_LEVEL":{"collection":"C5:HPO","systematicName":"M38516","pmid":"","exactSource":"HP:0031980","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031980","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_URINE_CARBOXYLIC_ACID_LEVEL","geneSymbols":["ABCD4","ACAD8","ACAD9","ACADM","ACADS","ACADSB","ACADVL","ACSF3","AGK","ALAD","ALDH5A1","ALDH6A1","ARG1","ASL","ASS1","ATAD3A","ATP5F1A","ATP5F1D","ATP5F1E","ATP5MK","ATPAF1","ATPAF2","AUH","BCKDHA","BCKDHB","CA5A","CAD","CD320","CLPB","COX16","CPOX","CPT1A","CPT2","D2HGDH","DBT","DHTKD1","DNAJC19","ETFA","ETFB","ETFDH","ETHE1","FDX2","FH","FOCAD","FTCD","GATA1","GCDH","HADH","HCFC1","HGD","HLCS","HMBS","HMGCL","HPD","HSPD1","HTRA2","IDH1","IDH2","KIF1B","L2HGDH","LETM1","LMBRD1","MCCC1","MCEE","MICOS13","MLYCD","MMAA","MMAB","MMACHC","MMADHC","MMUT","MT-ATP6","MT-ATP8","MT-TL1","MTR","MTRR","MVK","NDUFB10","NDUFS4","NFU1","NGLY1","OPA3","OTC","OXCT1","PAH","PCCA","PCCB","PEX14","POLG","PPOX","PRDX1","RET","SCO1","SDHA","SERAC1","SFXN4","SLC13A3","SLC18A2","SLC22A5","SLC25A1","SLC25A15","SLC25A20","SLC52A1","SLC7A7","SUCLA2","SUCLG1","SUGCT","TAFAZZIN","TAT","TCN2","TFAM","TIMM50","TMEM70","TRMU","UMPS","UROC1","UROS"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_PUTAMEN_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M46308","pmid":"","exactSource":"HP:0031982","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031982","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PUTAMEN_MORPHOLOGY","geneSymbols":["FTL","GCDH","RANBP2","TUBB3","VPS13A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_PULMONARY_THORACIC_IMAGING_FINDING":{"collection":"C5:HPO","systematicName":"M38517","pmid":"","exactSource":"HP:0031983","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031983","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PULMONARY_THORACIC_IMAGING_FINDING","geneSymbols":["ABCA3","AGR2","APOE","ARVCF","ASAH1","ATP11A","B2M","B3GALT6","BACH2","BCL10","BCL11A","BIRC3","BMPR2","BTNL2","C1QB","C4A","CASP10","CAV1","CCDC103","CCDC39","CCDC40","CCDC65","CCN2","CCNO","CCR1","CCR6","CFAP221","CFAP298","CFAP300","CFAP74","COL3A1","COMT","CSF2RA","CSF2RB","CTLA4","CXCR4","CYBB","DNAAF1","DNAAF11","DNAAF2","DNAAF3","DNAAF4","DNAAF5","DNAAF6","DNAH1","DNAH11","DNAH5","DNAH9","DNAI1","DNAI2","DNAJB13","DNAL1","DOCK2","DPP9","DRC1","DSP","EIF2AK4","ERAP1","FAM13A","FAS","FASLG","FOXJ1","FOXP1","GAS2L2","GAS8","GBA1","GP1BB","HBB","HBG1","HBG2","HIRA","HLA-B","HLA-DPA1","HLA-DPB1","HLA-DRB1","HYDIN","IFIH1","IFNGR1","IL10","IL12A","IL12A-AS1","IL23R","IL2RA","IL6ST","IRF5","JMJD1C","KIF1B","KLF1","KLRC4","LAMA2","LPIN2","LRRC56","LTBP4","MALT1","MCIDAS","MEFV","MUC5B","MYD88","NEK10","NHLRC2","NKX2-1","NME5","NME8","OCRL","ODAD1","ODAD2","ODAD3","ODAD4","OFD1","PARN","PAX3","PDGFRA","PLEC","PRIM1","PRKCD","PRTN3","PTPN22","RAB27A","RASGRP1","RIPK4","RPGR","RREB1","RSPH1","RSPH3","RSPH4A","RSPH9","RTEL1","SEC24C","SFTPA1","SFTPA2","SFTPB","SFTPC","SLC34A2","SLC41A1","SMPD1","SPAG1","SPEF2","STAT1","STAT3","STAT4","STK36","STN1","TBX1","TERC","TERT","TLR4","TP73","TSC1","TSC2","TTC12","UBA1","UBAC2","UFD1","ZMYND10"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DIMINISHED_ABILITY_TO_CONCENTRATE":{"collection":"C5:HPO","systematicName":"M38518","pmid":"","exactSource":"HP:0031987","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031987","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DIMINISHED_ABILITY_TO_CONCENTRATE","geneSymbols":["DYM","EMC10","ERF","HERC2","POLG","SPTBN1","TBL1X","TMEM163","TREX1","TWNK"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HOFFMANN_SIGN":{"collection":"C5:HPO","systematicName":"M46309","pmid":"","exactSource":"HP:0031993","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0031993","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HOFFMANN_SIGN","geneSymbols":["ABCD1","ALDH18A1","BCAT2","CHP1","GALC","PI4KA","REEP2","UCHL1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HETEROPHORIA":{"collection":"C5:HPO","systematicName":"M38519","pmid":"","exactSource":"HP:0032011","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0032011","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HETEROPHORIA","geneSymbols":["AFF4","GJA5","GJA8","HACE1","HOXB1","KIDINS220","MECR","SCN8A","TBX1","TRAPPC11"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HETEROTROPIA":{"collection":"C5:HPO","systematicName":"M38520","pmid":"","exactSource":"HP:0032012","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0032012","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HETEROTROPIA","geneSymbols":["AARS1","ABCC9","ACADSB","ADARB1","ADAT3","ADD3","ADGRG1","ADNP","AGRN","AGTPBP1","AHCY","AHDC1","AIMP1","ALDH3A2","ALG2","ALG9","AMMECR1","ANTXR1","AP1G1","APC","ARHGAP31","ARPC4","ATAD3A","ATIC","ATOH7","ATP1A2","ATP1A3","ATRX","B3GAT3","BCOR","BCORL1","BLOC1S3","CACNA1A","CACNA1F","CAMK2B","CARS1","CDC42","CDC42BPB","CHAT","CHMP1A","CHST3","CLCN3","CLCN6","CLP1","COG8","COL11A1","COL12A1","COL13A1","COL25A1","COL4A1","COL4A2","COL6A1","COL6A2","COL6A3","COL8A2","CPLANE1","CRB1","CRIPT","CYB5A","CYB5R3","DDOST","DLK1","DNMBP","DPAGT1","DPM1","DPP6","DYRK1A","EBP","EFNB1","EMC1","ERCC2","ERCC3","EXOC8","EXOSC3","EXOSC5","EXOSC8","EXOSC9","FAM149B1","FBN1","FBXO28","FBXW11","FGF10","FGFR2","FGFR3","FRMD5","FZD4","GALC","GALNT2","GBA1","GLRB","GNA14","GNB1","GNB2","GRHL2","GRID2","GRM1","GTF2E2","GTF2H5","H4C11","H4C5","HADHA","HERC2","HMGB3","HNRNPH2","HOXB1","HPDL","HPS3","HUWE1","IARS2","IRF2BPL","KAT6A","KAT8","KCNMA1","KDM1A","KDM6B","KIAA0753","KIDINS220","KIF21A","KIF7","LAGE3","LCA5","LGI4","LMBRD2","LMNB1","LRAT","LRMDA","LRP5","LRPPRC","LYRM7","MADD","MAGEL2","MBD5","MC1R","MED12","MEG3","MKRN3","MPDZ","MPLKIP","MRPS34","MYF5","MYO9A","MYOD1","NALCN","NCDN","NEUROD2","NEXMIF","NGLY1","NMNAT1","NONO","NPAP1","NR2F1","NSD1","NTNG2","OCA2","OFD1","OVOL2","P4HTM","PAX6","PCDHGC4","PDE4D","PDE6D","PEX5","PGAP2","PGAP3","PGM2L1","PHGDH","PHOX2A","PIDD1","PIGL","PIGN","PIGO","PIGT","PIGV","PIGW","PIGY","PIK3R1","PMM2","POGZ","POLA1","POLG","POLRMT","POU4F1","PPP1R21","PPP2R5D","PRKAR1B","PRPS1","PRR12","PTEN","PTRH2","PUF60","PURA","PWAR1","PWRN1","PYCR2","PYROXD1","RERE","RNASEH1","RNF113A","RNF2","ROBO3","RORA","RP1L1","RPE65","RPL10","RRAS2","RRM2B","RTL1","SALL2","SCO2","SEC23A","SIAH1","SLC12A6","SLC17A5","SLC18A3","SLC1A3","SLC25A1","SLC25A46","SLC35A2","SLC38A8","SLC5A7","SLC6A8","SMAD3","SNAP25","SNORD115-1","SNORD116-1","SNRPN","SOBP","SON","SOST","SOX5","SPATA7","SREBF1","SYT1","SYT2","TAF2","TARS1","TBC1D23","TBC1D2B","TBX1","TCTN3","TENM3","TGFBR1","TGFBR2","THOC2","TMEM216","TMEM231","TMEM67","TOPORS","TRIT1","TRPM3","TUBA1A","TUBB2B","TUBB3","TYR","UBE3A","UFC1","UFSP2","UNC80","USP7","VAMP1","VRK1","VSX1","WARS2","WDR11","WDR45","WT1","ZC4H2","ZEB1","ZEB2","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_SPUTUM":{"collection":"C5:HPO","systematicName":"M41556","pmid":"","exactSource":"HP:0032016","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0032016","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SPUTUM","geneSymbols":["ACTA2","ACVRL1","BTNL2","C4A","CCDC103","CCDC39","CCDC40","CCDC65","CCNO","CCR1","CEACAM3","CEACAM6","CFAP221","CFAP298","CFAP300","CFAP74","CFTR","CLCA4","CLEC7A","COL3A1","COL5A1","COL5A2","CTLA4","DCTN4","DNAAF1","DNAAF11","DNAAF2","DNAAF3","DNAAF4","DNAAF5","DNAAF6","DNAH1","DNAH11","DNAH5","DNAH9","DNAI1","DNAI2","DNAJB13","DNAL1","DNASE1L3","DRC1","EDNRA","EIF2AK4","ELN","ENG","ERAP1","F5","FAS","FBN1","FCGR2A","FOXE3","FOXJ1","GAS2L2","GAS8","GCLC","GDF2","GIMAP5","GSTM3","HEY2","HFE","HLA-B","HLA-DPA1","HLA-DPB1","HLA-DRB1","HMOX1","HYDIN","IFNG","IFNGR1","IL10","IL12A","IL12A-AS1","IL12B","IL17F","IL17RA","IL17RC","IL23R","KCNN4","KLRC4","LOX","LRRC56","MAT2A","MCIDAS","MEFV","MFAP5","MIF","MLX","MYH11","MYLK","NEK10","NME5","NME8","ODAD1","ODAD2","ODAD3","ODAD4","OFD1","PRKG1","PRTN3","PTPN22","RPGR","RSPH1","RSPH3","RSPH4A","RSPH9","SCNN1A","SCNN1B","SCNN1G","SERPINA1","SLC11A1","SLC26A9","SLC34A2","SLC6A14","SLC9A3","SMAD2","SMAD3","SMAD4","SPAG1","SPEF2","STAT4","STK36","STX1A","TGFB1","TGFB2","TGFB3","TGFBR1","TGFBR2","THSD4","TLL1","TLR4","TRAF3IP2","TSC1","TSC2","TTC12","UBAC2","ZMYND10"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_OCULAR_ADNEXA_PHYSIOLOGY":{"collection":"C5:HPO","systematicName":"M47276","pmid":"","exactSource":"HP:0032040","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0032040","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_OCULAR_ADNEXA_PHYSIOLOGY","geneSymbols":["AARS1","ANO3","ATN1","ATP13A2","CACNA1A","CHN1","CLCN1","CP","CPLX1","DDC","DRD5","FGFR2","FGFR3","FTL","HPCA","HSPG2","KCTD17","MAFB","MAPT","MECR","PANK2","PARK7","PLA2G6","POLR1B","POLR1C","POLR1D","SALL4","STARD7","SYNJ1","TACSTD2","TAF1","TBC1D24","TBP","TCOF1","THAP1","TOR1A","TUBB4A","TWIST1","VPS13A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DECREASED_VIGILANCE":{"collection":"C5:HPO","systematicName":"M41557","pmid":"","exactSource":"HP:0032044","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0032044","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_VIGILANCE","geneSymbols":["ATP1A2","CACNA1A","CDKN1A","CDKN1B","CDKN2B","CDKN2C","MEN1","PLP1","PRRT2","SCN1A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FOCAL_CORTICAL_DYSPLASIA":{"collection":"C5:HPO","systematicName":"M38521","pmid":"","exactSource":"HP:0032046","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0032046","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOCAL_CORTICAL_DYSPLASIA","geneSymbols":["AKT3","CNTNAP2","COL4A1","COPB2","DEPDC5","DYNC1H1","MTOR","NPRL2","NPRL3","NUP133","PIK3CA","POMT1","SCO2","TSC1","TSC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FOCAL_CORTICAL_DYSPLASIA_TYPE_II":{"collection":"C5:HPO","systematicName":"M38522","pmid":"","exactSource":"HP:0032051","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0032051","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOCAL_CORTICAL_DYSPLASIA_TYPE_II","geneSymbols":["DEPDC5","MTOR","NPRL3","TSC1","TSC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPEREOSINOPHILIA":{"collection":"C5:HPO","systematicName":"M38523","pmid":"","exactSource":"HP:0032061","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0032061","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPEREOSINOPHILIA","geneSymbols":["CARD9","EXTL3","IPO8","NLRP1","SPINK5","TRAC"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_GASTROINTESTINAL_EOSINOPHILIA":{"collection":"C5:HPO","systematicName":"M41558","pmid":"","exactSource":"HP:0032064","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0032064","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GASTROINTESTINAL_EOSINOPHILIA","geneSymbols":["ARPC1B","CARD11","DOCK8","DSG1","JAK1","SMAD3","STAT1","TGFB1","TGFB2","TGFB3","TGFBR1","TGFBR2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_SERUM_BICARBONATE_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M47277","pmid":"","exactSource":"HP:0032065","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0032065","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SERUM_BICARBONATE_CONCENTRATION","geneSymbols":["CPT2","KCNJ10","SLC26A3","SLC4A4","WNK1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ANTI_THYROGLOBULIN_ANTIBODY_POSITIVITY":{"collection":"C5:HPO","systematicName":"M46310","pmid":"","exactSource":"HP:0032069","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0032069","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANTI_THYROGLOBULIN_ANTIBODY_POSITIVITY","geneSymbols":["CARD10","NFKB2","POMP","RASGRP1","THRB","TSHR"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LEFT_VENTRICULAR_OUTFLOW_TRACT_OBSTRUCTION":{"collection":"C5:HPO","systematicName":"M46311","pmid":"","exactSource":"HP:0032092","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0032092","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LEFT_VENTRICULAR_OUTFLOW_TRACT_OBSTRUCTION","geneSymbols":["FHOD3","GAA","GDF1","KLHL24","MYH6","NR2F2","TAB2","VCL"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_UNUSUAL_INFECTION":{"collection":"C5:HPO","systematicName":"M38524","pmid":"","exactSource":"HP:0032101","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0032101","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UNUSUAL_INFECTION","geneSymbols":["A2ML1","AARS1","AASS","ABCA12","ACP5","ACTA1","ACTC1","ACVRL1","ADA","ADA2","ADAM17","ADAMTS3","ADAT3","ADNP","ADORA2A","AGA","AGR2","AGRN","AGXT","AICDA","AIRE","AK2","AKT1","ALB","ALDH18A1","ALDH1A2","ALG1","ALG12","ALG13","ALG3","ALG5","ALG9","ALMS1","ALOX12B","ALOXE3","ALPL","ANAPC1","ANKRD17","ANTXR2","AP3B1","AP3D1","APRT","ARHGAP29","ARHGEF1","ARHGEF38","ARID1A","ARID1B","ARID2","ARL2BP","ARL3","ARPC1B","ARSB","ARSL","ASAH1","ASPRV1","ASXL1","ASXL3","ATM","ATN1","ATP6AP1","ATP6AP2","ATP6V0A2","ATP7A","ATR","ATRX","B2M","B3GALT6","BACH2","BAP1","BAZ1B","BCHE","BCL10","BCL11A","BCL11B","BCL2","BCL6","BCL7B","BCOR","BCR","BICC1","BIRC3","BLM","BLNK","BMP4","BNC2","BPTF","BRAF","BRCA1","BRCA2","BRIP1","BTD","BTK","BUD23","C1QA","C1QB","C1QC","C1R","C3","C4A","C4B","C5","C6","C7","C8A","C8B","CACNA1B","CACNA1C","CARD10","CARD11","CARD9","CARMIL2","CARS1","CASP8","CAVIN1","CCBE1","CCDC103","CCDC22","CCDC39","CCDC40","CCDC47","CCDC65","CCNO","CCR1","CD19","CD247","CD27","CD3D","CD3E","CD3G","CD4","CD40","CD40LG","CD55","CD70","CD79A","CD79B","CD81","CD8A","CDC42","CDC42BPB","CDCA7","CDH1","CDH23","CEACAM3","CEACAM6","CEBPE","CFAP221","CFAP298","CFAP300","CFAP410","CFAP52","CFAP74","CFB","CFD","CFH","CFI","CFTR","CHAMP1","CHAT","CHRM3","CHRNA3","CIITA","CISD2","CITED2","CLCA4","CLCN7","CLDN16","CLDN19","CLEC7A","CLIP2","CLPB","CLTRN","COBLL1","COG1","COG4","COG6","COG7","COL11A1","COL11A2","COL13A1","COL2A1","COL4A5","COL4A6","COL5A1","COL5A2","COL6A1","COL6A2","COL6A3","COLQ","CORIN","CORO1A","CPLX1","CPSF3","CR2","CREBBP","CRIPT","CRKL","CSF3R","CSPP1","CTBP1","CTC1","CTCF","CTLA4","CTNNB1","CTNNBL1","CTPS1","CTSC","CXCR2","CXCR4","CYBA","CYBB","CYBC1","CYP4F22","DBR1","DCLRE1C","DCTN4","DDB1","DDOST","DDR2","DDX59","DDX6","DEAF1","DEF6","DGCR2","DGCR6","DGCR8","DHCR7","DIAPH1","DIP2B","DISC1","DKC1","DLG1","DLK1","DLL3","DLX4","DNAAF1","DNAAF11","DNAAF2","DNAAF3","DNAAF4","DNAAF5","DNAAF6","DNAH1","DNAH11","DNAH5","DNAH9","DNAI1","DNAI2","DNAJB11","DNAJB13","DNAJC21","DNAJC30","DNAL1","DNASE1L3","DNASE2","DNMT3B","DOCK2","DOCK8","DOHH","DPF2","DPM2","DPP9","DPYSL5","DRC1","DSG1","DYM","DYNC2I2","DYRK1A","DZIP1L","ECM1","EDARADD","EDNRA","EFEMP2","EFL1","EGFR","EHMT1","EIF2AK3","EIF4H","ELANE","ELF4","ELN","ELP1","EN1","ENG","EOMES","EP300","EPG5","EPHB4","ERAP1","ERCC2","ERCC3","ERCC4","ERCC6","ERF","ESS2","EXOSC9","EXT1","EXTL3","EYA4","FADD","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FARSB","FAS","FAT4","FBLN5","FBXL4","FBXO11","FBXO28","FBXW7","FCGR2A","FCGR3A","FCGR3B","FCHO1","FCN3","FCSK","FERMT3","FGFR3","FHL1","FIP1L1","FKBP6","FLI1","FLNA","FLNC","FLT1","FLVCR1","FMO3","FMR1","FOCAD","FOXC2","FOXJ1","FOXN1","FOXP1","FOXP2","FOXP3","FUCA1","FUT8","FZD2","G6PC3","GAA","GALC","GALNS","GANAB","GAS2L2","GAS8","GATA1","GATA2","GATA4","GATA6","GBA1","GCLC","GEMIN4","GFI1","GFM2","GIMAP5","GINS1","GJB2","GJB6","GLB1","GLI3","GLIS3","GLRA2","GLUL","GMNN","GNB2","GNPTAB","GNS","GORAB","GOT2","GPR35","GRHL3","GRHPR","GRIA1","GRIA3","GRM7","GSTM3","GTF2E2","GTF2H5","GTF2I","GTF2IRD1","GTF2IRD2","GUSB","H4C3","H4C5","HACD1","HAX1","HBB","HBG1","HBG2","HCK","HELLS","HEPHL1","HERC2","HFE","HGSNAT","HLA-B","HLA-DPA1","HLA-DPB1","HLA-DQB1","HLA-DRB1","HMOX1","HOXA13","HPGD","HPS6","HPSE2","HSPA9","HYAL1","HYDIN","HYOU1","IARS1","ICOS","IDH1","IDS","IDUA","IER3IP1","IFIH1","IFNAR1","IFNAR2","IFNG","IFNGR1","IFNGR2","IFT122","IFT140","IGBP1","IGHG2","IGHM","IGKC","IGLL1","IKBKB","IKBKG","IKZF1","IKZF3","IL10","IL10RA","IL10RB","IL12A","IL12A-AS1","IL12B","IL12RB1","IL17F","IL17RA","IL17RC","IL21","IL21R","IL23R","IL2RA","IL2RB","IL2RG","IL6R","IL6ST","IL7","IL7R","INPPL1","INSR","IRAK4","IRF2BP2","IRF3","IRF4","IRF5","IRF6","IRF7","IRF8","IRF9","ISG15","ISL1","ITCH","ITGA3","ITGA7","ITGB2","ITK","IVNS1ABP","JAGN1","JAK1","JAK3","KANSL1","KAT5","KAT6A","KAT6B","KATNIP","KCNJ6","KCNN4","KCTD1","KDM5C","KDM6A","KIAA0586","KIF15","KIF1A","KIF20A","KLF1","KLRC4","KMT2A","KMT2B","KMT2C","KMT2D","KMT5B","KNSTRN","KPTN","KRAS","KRT1","KRT14","KRT5","L2HGDH","LAMA2","LAMA3","LAMB2","LAMB3","LAMC2","LAMTOR2","LAT","LBR","LCK","LCP2","LEP","LEPR","LETM1","LIFR","LIG1","LIG3","LIG4","LIMK1","LIPN","LMBRD1","LMNB1","LMNB2","LONP1","LRBA","LRIG2","LRRC56","LRRC8A","LTBP1","LTBP4","LYST","MAD2L2","MAGEL2","MAGT1","MALT1","MAN2B1","MANBA","MAP3K20","MAP3K7","MAPK1","MASP2","MBD5","MBL2","MBTPS2","MC2R","MCIDAS","MCM10","MCM4","MDFIC","MDM4","MECP2","MED12","MED13L","MED25","MEFV","MEG3","MEGF10","MESP2","METTL27","MGAT2","MGME1","MGP","MIF","MINPP1","MIR140","MKRN3","MLXIPL","MMEL1","MNS1","MNX1","MPEG1","MPLKIP","MRAP","MRTFA","MS4A1","MSN","MST1","MSX1","MTHFD1","MTM1","MVK","MYD88","MYH11","MYH3","MYH6","MYL2","MYL9","MYO5A","MYO9A","MYPN","MYSM1","NAA10","NABP1","NAE1","NAGLU","NBEA","NBN","NCF1","NCF2","NCF4","NCKAP1L","NDE1","NDN","NDUFC2","NECTIN1","NEK10","NELFA","NEPRO","NFASC","NFE2L2","NFIX","NFKB1","NFKB2","NFKBIA","NGLY1","NHEJ1","NHLRC2","NHP2","NIPAL4","NKX2-1","NKX2-5","NLRC4","NLRP3","NME5","NME8","NNT","NOP10","NOTCH2","NPAP1","NPHS1","NPM1","NR3C1","NRAS","NSD2","NSUN2","NTRK1","NUMA1","NUP214","NXN","OAS1","OCA2","OCRL","ODAD1","ODAD2","ODAD3","ODAD4","ODC1","OFD1","ORAI1","ORC6","OTULIN","P4HA2","P4HTM","PAK2","PALB2","PARN","PCGF2","PCNT","PCYT1A","PDGFRA","PDHA1","PEPD","PET117","PEX5","PGM1","PGM3","PHIP","PHKA2","PHKB","PHKG2","PI4KA","PIGG","PIGU","PIK3CD","PIK3CG","PIK3R1","PKD1","PKD2","PKHD1","PKP1","PLCG2","PLEC","PLEKHM1","PLG","PLOD1","PLP1","PLVAP","PML","PNP","POGZ","POLA1","POLE","POLR2A","POLR3A","POLR3F","POLR3GL","POMP","POU2AF1","PPM1D","PPP1R21","PRF1","PRIM1","PRKAR1A","PRKAR1B","PRKCD","PRKDC","PRMT7","PRPS1","PRTN3","PSAP","PSEN1","PSENEN","PSMB4","PSMB8","PSMB9","PSMD12","PTEN","PTPN22","PURA","PWAR1","PWRN1","PYROXD1","RAB27A","RAB3GAP2","RAC1","RAC2","RAD21","RAD51","RAD51C","RAG1","RAG2","RALGAPA1","RARA","RASGRP1","RBCK1","RECQL","REEP1","REL","RELA","RELB","RFC2","RFT1","RFWD3","RFX5","RFX7","RFXANK","RFXAP","RIC1","RIPK1","RMRP","RNF113A","RNF125","RNF168","RNF2","RNU4ATAC","RNU7-1","ROR2","RORC","RPGR","RPL10","RPL11","RPS14","RSPH1","RSPH3","RSPH4A","RSPH9","RTEL1","RTL1","RUNX2","RYR1","SAMD9","SAMD9L","SASH3","SATB1","SBDS","SCN10A","SCN11A","SCN9A","SCNN1A","SCNN1B","SCNN1G","SDCCAG8","SDR9C7","SEC61A1","SELENON","SEMA4D","SEPSECS","SERAC1","SERPINA1","SERPINH1","SETBP1","SETD1A","SETD2","SF3B1","SFTPC","SGSH","SH2D1A","SH3KBP1","SHANK3","SHROOM4","SIAH1","SIK1","SIM1","SIN3A","SKIC2","SKIC3","SLC11A1","SLC18A3","SLC1A4","SLC25A1","SLC25A22","SLC26A2","SLC26A9","SLC29A3","SLC2A1","SLC35A1","SLC35A2","SLC35C1","SLC37A4","SLC39A4","SLC39A7","SLC39A8","SLC3A1","SLC41A1","SLC46A1","SLC52A3","SLC5A2","SLC5A7","SLC6A14","SLC6A19","SLC7A7","SLC7A9","SLC9A3","SLF2","SLX4","SMARCA2","SMARCA4","SMARCAL1","SMARCB1","SMARCC2","SMARCD1","SMARCD2","SMARCE1","SMG9","SMN1","SMPD1","SNAP25","SNORA31","SNORD115-1","SNORD116-1","SNRPN","SNX10","SOCS1","SON","SOX11","SOX17","SOX4","SOX9","SP110","SPAG1","SPEF2","SPI1","SPIB","SPINK5","SPPL2A","SPTBN1","SPTBN4","SRCAP","SREBF1","SRP19","SRP54","SRY","STAR","STAT1","STAT2","STAT3","STAT4","STAT5B","STIM1","STING1","STK36","STK4","STOX1","STX11","STX1A","STX3","STXBP2","SUCLG1","SULT2B1","SYK","SYT2","TAFAZZIN","TAOK1","TAP1","TAP2","TAPBP","TARS1","TASP1","TBC1D23","TBC1D24","TBCD","TBCE","TBK1","TBL1XR1","TBL2","TBX1","TBX20","TBX21","TBX6","TCEAL1","TCF3","TCF4","TCIRG1","TCTN3","TECPR2","TERC","TERT","TET2","TF","TFE3","TFRC","TGFB1","TGM1","THOC6","TICAM1","TIMMDC1","TINF2","TK2","TLL1","TLR3","TLR4","TLR7","TLR8","TMC8","TMCO1","TMEM270","TMEM70","TMEM94","TNFRSF11A","TNFRSF13B","TNFRSF13C","TNFRSF1A","TNFRSF9","TNFSF11","TNFSF12","TNFSF15","TNNI3","TNNT2","TNPO3","TNRC6B","TNXB","TOM1","TONSL","TOP3A","TP53","TP63","TP73","TPM2","TPM3","TPP2","TRAC","TRAF3","TRAF3IP2","TRAIP","TRIM37","TRIO","TRIP11","TRIP4","TRPS1","TRRAP","TSC1","TSC2","TSEN15","TSEN2","TSEN34","TSEN54","TTC12","TTC26","TTC7A","TXNRD2","TYK2","TYMS","UBA2","UBAC2","UBB","UBE2A","UBE2T","UBE3B","UFC1","UGP2","UMPS","UNC119","UNC13D","UNC93B1","UNG","UQCRH","UROC1","UROD","UROS","USB1","USP26","USP48","USP8","USP9X","VAMP1","VANGL1","VARS1","VPS33A","VPS35L","VPS37D","VPS45","VPS4A","VPS51","WAC","WAS","WASF1","WASHC5","WDR1","WDR19","WDR26","WDR35","WFS1","WIPF1","WRAP53","XIAP","XRCC2","YY1","ZAP70","ZBTB16","ZBTB24","ZBTB7A","ZEB2","ZMYND10","ZNF341","ZNF668","ZNF699","ZNFX1","ZNHIT3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SACCADIC_OSCILLATION":{"collection":"C5:HPO","systematicName":"M38525","pmid":"","exactSource":"HP:0032104","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0032104","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SACCADIC_OSCILLATION","geneSymbols":["ATP1A2","ATP1A3","CACNA1A","CLCN7","FRMD5","GBA1","KIF1B","SLC1A3","SLC35A2","SLC6A3","SNX10","TCIRG1","TMEM240","TNFSF11","VPS13D"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CONJUNCTIVAL_ICTERUS":{"collection":"C5:HPO","systematicName":"M43524","pmid":"","exactSource":"HP:0032106","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0032106","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONJUNCTIVAL_ICTERUS","geneSymbols":["FH","PIEZO1","PIGA","PKHD1","SLCO1B1","SLCO1B3","UBR1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LIMBAL_STEM_CELL_DEFICIENCY":{"collection":"C5:HPO","systematicName":"M41559","pmid":"","exactSource":"HP:0032107","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0032107","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIMBAL_STEM_CELL_DEFICIENCY","geneSymbols":["DDR2","FGF10","FGFR2","FGFR3","GJB2","GJB6","NLRP1","PAX6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_PERIPHERAL_NERVOUS_SYSTEM_PHYSIOLOGY":{"collection":"C5:HPO","systematicName":"M43525","pmid":"","exactSource":"HP:0032120","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0032120","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PERIPHERAL_NERVOUS_SYSTEM_PHYSIOLOGY","geneSymbols":["AARS1","ABCD1","ABHD12","AIFM1","ALS2","ARHGEF10","ARHGEF2","ARSA","ATL1","ATL3","ATP11A","ATP7B","ATXN1","ATXN10","BSCL2","CACNA1S","CADM3","CCT5","CEP126","CHCHD10","CNTNAP1","COMP","CPLANE1","CTDP1","CYP27A1","DCAF8","DEGS1","DHH","DHX16","DIAPH3","DNAJB6","DNAJC3","DNM2","EBP","EDNRB","EGR2","EMILIN1","EPM2A","ERCC3","ERCC4","ERCC6","ERCC8","FBLN5","FBN1","FBXO38","FGD4","FIG4","FLNC","FLVCR1","FXN","GABRA3","GALC","GARS1","GDAP1","GFM2","GJB1","GJC2","HIKESHI","HINT1","HK1","HPDL","HSD17B4","HSPB1","HSPB8","HYCC1","IDUA","IGHMBP2","ITPR3","JPH1","KARS1","KCNJ18","KIF1A","KIF1B","LAMA2","LIG3","LITAF","LMNA","LMNB1","LRSAM1","LTBP3","LYST","MARCHF6","MATR3","MED25","MEGF10","MFF","MFN2","MOGS","MORC2","MPV17","MPZ","MTMR2","MTRFR","MYH14","MYH3","NALCN","NDRG1","NEFL","NEU1","NFASC","NGLY1","NHLRC1","NMNAT1","NOTCH2NLC","NPTX1","NTRK1","OPA1","OTOF","PDK3","PEX6","PLA2G6","PLEKHG5","PLP1","PMP2","PMP22","PNKP","PNPT1","POLG","PRDX3","PRPS1","PRX","PSAP","PTRH2","RAB7A","RAI1","REEP1","RETREG1","RFC1","RIPOR2","RRM2B","SACS","SAMD12","SAMD9L","SBF1","SBF2","SCN9A","SCP2","SEMA6B","SETX","SH3TC2","SIGMAR1","SLC12A6","SLC25A15","SLC5A7","SNAP29","SORD","SOX10","SPG21","SPTBN4","SPTLC1","SPTLC2","STARD7","SUCLA2","SUMF1","SYT2","TBC1D20","TBC1D24","TDP1","TFG","TIMM8A","TPI1","TRIM2","TRPV4","TTPA","TYMP","UBA1","UQCRC1","VAMP1","VCP","VPS13A","WNK1","YARS1","YEATS2","YME1L1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_VERY_LOW_VISUAL_ACUITY":{"collection":"C5:HPO","systematicName":"M45493","pmid":"","exactSource":"HP:0032122","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0032122","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VERY_LOW_VISUAL_ACUITY","geneSymbols":["COL8A2","GRHL2","OVOL2","VSX1","ZEB1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DECREASED_CIRCULATING_TOTAL_IGG":{"collection":"C5:HPO","systematicName":"M43526","pmid":"","exactSource":"HP:0032132","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0032132","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_CIRCULATING_TOTAL_IGG","geneSymbols":["ATP6AP1","CD19","CD81","CR2","IVNS1ABP","KNSTRN","MS4A1","PIK3CD","SYK"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DECREASED_CIRCULATING_IGG_SUBCLASS_LEVEL":{"collection":"C5:HPO","systematicName":"M43527","pmid":"","exactSource":"HP:0032135","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0032135","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_CIRCULATING_IGG_SUBCLASS_LEVEL","geneSymbols":["ADA","ATM","CD247","CD3G","CR2","CTPS1","EPG5","IFIH1","PIK3CD","RNF113A","SH3KBP1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DECREASED_SPECIFIC_ANTIBODY_RESPONSE_TO_VACCINATION":{"collection":"C5:HPO","systematicName":"M41560","pmid":"","exactSource":"HP:0032140","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0032140","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_SPECIFIC_ANTIBODY_RESPONSE_TO_VACCINATION","geneSymbols":["AICDA","ALG12","ARHGEF1","B2M","BTK","CARD11","CARMIL2","CASP8","CD19","CD247","CD70","CD81","CORO1A","CR2","CTPS1","HYOU1","ICOS","IKBKG","IRF2BP2","KNSTRN","LRBA","MALT1","PIK3CD","RAC2","REL","RIPK1","SASH3","TCF3","TNFRSF13B","TNFRSF13C","TNFRSF9"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_EPISODIC_PAIN":{"collection":"C5:HPO","systematicName":"M43528","pmid":"","exactSource":"HP:0032148","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0032148","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EPISODIC_PAIN","geneSymbols":["ATRX","CDC73","CDKN1B","CPT2","DAXX","DLST","DNMT3A","EPAS1","ERBB3","ESR1","F12","FH","FLI1","GNE","HEXB","KIF1B","LEMD3","LPL","MAX","MC2R","MDH2","MEFV","MRAP","NF1","NNT","PIGA","PNPT1","RET","SDHA","SDHAF2","SDHB","SDHC","SDHD","SLC25A11","STAR","TGFBI","TMEM127","TRPA1","TXNRD2","VHL"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_KERATOSIS_PILARIS":{"collection":"C5:HPO","systematicName":"M38526","pmid":"","exactSource":"HP:0032152","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0032152","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_KERATOSIS_PILARIS","geneSymbols":["BRAF","CARD14","COL12A1","COL6A1","COL6A2","COL6A3","FLG","GJA1","GNB2","HEPHL1","KDF1","KRT16","KRT74","KRT81","KRT83","KRT86","LRP1","LZTR1","MAP2K1","MAP2K2","MARS1","MBTPS2","NLRP1","NRAS","ODC1","PGM2L1","RAF1","RECQL","SHOC2","SOS1","SOS2","SREBF1","WNT10A","ZNF750"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_JOINT_SUBLUXATION":{"collection":"C5:HPO","systematicName":"M38527","pmid":"","exactSource":"HP:0032153","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0032153","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_JOINT_SUBLUXATION","geneSymbols":["ADAMTS2","ARSL","B3GALT6","BPNT2","CHD7","COL1A1","COL1A2","COL2A1","COL5A1","DCHS1","DDR2","EFEMP2","FBLN5","FLNB","GALNS","GLB1","GLI3","HNRNPH1","IDUA","IFIH1","KIF22","LTBP1","MADD","MMP2","PLOD1","PUF60","RIGI","RMRP","TNXB","XYLT1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APHTHOUS_ULCER":{"collection":"C5:HPO","systematicName":"M41561","pmid":"","exactSource":"HP:0032154","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0032154","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APHTHOUS_ULCER","geneSymbols":["ADA2","C4A","CARMIL2","CASP10","CCR1","CEBPE","CLPB","DCLRE1C","ELANE","ERAP1","FAS","FASLG","GFI1","HLA-B","HLA-DQA1","HLA-DQB1","HYOU1","IFNGR1","IL10","IL12A","IL12A-AS1","IL17RC","IL21","IL23R","IL6","KLRC4","MALT1","MEFV","MVK","NCF4","NLRP12","NLRP3","NOD2","ORAI1","PRKCD","PRKDC","RASGRP1","RIN2","RNF125","RORC","SASH3","SRP19","SRP54","STAT4","STK4","TCIRG1","TICAM1","TLR4","TLR8","UBAC2","WDR1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABDOMINAL_CRAMPS":{"collection":"C5:HPO","systematicName":"M45494","pmid":"","exactSource":"HP:0032155","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0032155","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABDOMINAL_CRAMPS","geneSymbols":["ASXL1","CBL","POLG","RUNX1","SRSF2","TET2","TYMP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_UNUSUAL_INFECTION_BY_ANATOMICAL_SITE":{"collection":"C5:HPO","systematicName":"M38528","pmid":"","exactSource":"HP:0032158","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0032158","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UNUSUAL_INFECTION_BY_ANATOMICAL_SITE","geneSymbols":["ACVRL1","ARPC1B","ATRX","BCL10","BCL2","BCL6","BLNK","BTK","C1QC","C4A","C4B","C8A","C8B","CARD11","CARD9","CARMIL2","CCR1","CD19","CD27","CD40LG","CD79A","CD79B","CFB","CFI","CIITA","CLTRN","CR2","CTLA4","CXCR4","CYBA","CYBB","CYBC1","DBR1","DNASE1L3","DOCK8","ENG","ERAP1","FAS","FCGR3B","FGFR3","FOXP3","HLA-B","HLA-DPA1","HLA-DPB1","HLA-DRB1","HYOU1","ICOS","IFNGR1","IGHM","IGLL1","IKBKG","IL10","IL12A","IL12A-AS1","IL23R","IL2RG","IL7","IRF3","IRF4","JAK3","KLRC4","L2HGDH","LBR","LRRC8A","MEFV","MRTFA","MVK","MYD88","NCF1","NCF2","NCF4","NCKAP1L","NDE1","NLRC4","NLRP3","P4HA2","PGM3","PIK3R1","PRF1","PRTN3","PTPN22","RAG1","RAG2","RFX5","RFXANK","RFXAP","SH2D1A","SLC35C1","SLC39A7","SLC6A19","SNORA31","SPI1","STAT1","STAT4","STK4","STX11","STXBP2","TBK1","TCF3","TFRC","TICAM1","TLR3","TLR4","TMEM70","TNFRSF13B","TNFRSF13C","TOM1","TRAF3","UBAC2","UNC13D","UNC93B1","VANGL1","WAS","WIPF1","XIAP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_UNUSUAL_SKIN_INFECTION":{"collection":"C5:HPO","systematicName":"M41562","pmid":"","exactSource":"HP:0032162","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0032162","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UNUSUAL_SKIN_INFECTION","geneSymbols":["CARD11","CARD9","CARMIL2","DOCK8","IKBKG","MVK","NCKAP1L","PGM3","STK4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SEVERE_INFECTION":{"collection":"C5:HPO","systematicName":"M38529","pmid":"","exactSource":"HP:0032169","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0032169","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEVERE_INFECTION","geneSymbols":["ADORA2A","BCL11A","BLM","CARD11","CD247","CD27","CD3D","CD3E","CD40LG","CD70","CTPS1","CXCR2","DBR1","DEF6","DNASE2","DOCK2","ELANE","FCGR3A","FCGR3B","FOXP3","HBB","HBG1","HBG2","HYOU1","IGHG2","IGKC","IKBKG","IKZF3","IL2RA","IL2RB","IL7","IL7R","IRF3","IRF7","ISG15","ITK","KLF1","LAT","MAGT1","MCM10","MECP2","NCKAP1L","NFKBIA","PGM3","PIK3CD","PIK3R1","PRKCD","PRPS1","PTEN","RAC2","RAG1","RAG2","REL","SASH3","SH2D1A","SNORA31","STAT1","STAT2","STK4","TBK1","TET2","TGFB1","TICAM1","TLR3","TLR7","TMC8","TNFRSF9","TOM1","TPP2","TRAC","TRAF3","UNC93B1","XIAP","ZNFX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SEVERE_VARICELLA_ZOSTER_INFECTION":{"collection":"C5:HPO","systematicName":"M41564","pmid":"","exactSource":"HP:0032170","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0032170","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEVERE_VARICELLA_ZOSTER_INFECTION","geneSymbols":["BLM","CD27","CD70","CTPS1","DOCK2","FCGR3A","IL2RA","MAGT1","PGM3","PIK3CD","PIK3R1","PTEN","RAC2","SASH3","TGFB1","TRAC"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CIRCULATING_GLOBULIN_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M38530","pmid":"","exactSource":"HP:0032179","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0032179","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_GLOBULIN_CONCENTRATION","geneSymbols":["ALB","B2M","CIITA","FTH1","PLG","RFX5","RFXANK","RFXAP","SERPINE1","TF"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CIRCULATING_METABOLITE_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M38531","pmid":"","exactSource":"HP:0032180","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0032180","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_METABOLITE_CONCENTRATION","geneSymbols":["AASS","ABCA1","ABCA2","ABCB11","ABCB4","ABCB6","ABCC2","ABCC6","ABCC8","ABCC9","ABCD1","ABCD3","ABCD4","ABCG5","ABCG8","ABHD5","ACAD8","ACAD9","ACADM","ACADS","ACADVL","ACAT1","ACAT2","ACOX2","ACSF3","ACSL5","ACTA1","ACTC1","ACTN2","ACTN4","ADA2","ADAMTS13","ADAMTS3","ADCY10","ADCY3","ADK","ADSS1","AEBP1","AFP","AGL","AGPAT2","AGXT","AHCY","AIFM1","AIP","AKAP9","AKR1D1","AKT2","ALAD","ALAS2","ALB","ALDH18A1","ALDH4A1","ALDH5A1","ALDH6A1","ALDH7A1","ALDOA","ALDOB","ALG1","ALG11","ALG12","ALG14","ALG2","ALG5","ALG6","ALG8","ALG9","ALMS1","ALPL","AMACR","AMPD1","AMPD3","AMT","ANGPTL3","ANK1","ANK2","ANKFY1","ANKRD1","ANLN","ANO5","ANXA11","AP1B1","AP1S1","AP1S3","AP2S1","AP5Z1","APC2","APOA1","APOA2","APOA5","APOB","APOC2","APOC3","APOE","APOL1","APP","APPL1","APRT","APTX","AQP2","AR","ARG1","ARHGAP24","ARHGDIA","ARMC5","ARNT2","ARPC1B","ARVCF","ASAH1","ASL","ASNS","ASPA","ASS1","ATAD3A","ATIC","ATM","ATP1A1","ATP5F1A","ATP5F1B","ATP5F1D","ATP5F1E","ATP5MK","ATP6AP1","ATP6V0A2","ATP6V0A4","ATP6V1A","ATP6V1E1","ATP7A","ATP7B","ATP8B1","ATPAF1","ATPAF2","AVPR2","B2M","B3GALNT2","B4GALT1","B4GAT1","BAAT","BAG3","BAG5","BAZ1B","BCAP31","BCAT2","BCKDHA","BCKDHB","BCKDK","BCL10","BCL7B","BCS1L","BICC1","BICD2","BIN1","BLK","BLVRA","BMP2","BMP6","BMPR1A","BOLA3","BSCL2","BSND","BTD","BTK","BTNL2","BUD23","BVES","C19orf12","C1QB","C1QBP","C2orf69","C3","CA12","CA2","CA5A","CACNA1C","CACNA1D","CACNA1S","CAD","CALM1","CALM2","CALM3","CAMKMT","CAP2","CAPN3","CARD10","CARD9","CARS2","CASK","CASQ1","CASR","CAV1","CAV3","CAVIN1","CBLIF","CBS","CC2D2A","CCBE1","CCDC115","CCDC134","CCDC47","CCDC78","CCN6","CCND1","CCT5","CD244","CD2AP","CD320","CD46","CD55","CDAN1","CDC73","CDH23","CDKN1A","CDKN1B","CDKN1C","CDKN2A","CDKN2B","CDKN2C","CEL","CELA2A","CEP19","CETP","CFB","CFH","CFHR1","CFHR3","CFI","CFL2","CFTR","CHCHD10","CHD7","CHKB","CIDEC","CIITA","CLCN2","CLCN5","CLCN7","CLCNKA","CLCNKB","CLDN10","CLDN16","CLDN19","CLIP2","CLPX","CNBP","CNNM2","CNOT1","CNTN1","COA7","COG2","COG4","COG6","COG7","COG8","COL12A1","COL25A1","COL3A1","COL4A1","COL4A3","COL6A1","COL6A2","COL6A3","COL7A1","COL9A3","COMT","COPA","COQ2","COQ7","COQ8B","COQ9","CORIN","COX10","COX16","COX20","COX5A","COX6A2","COX6B1","COX8A","CP","CPA1","CPOX","CPS1","CPT1A","CPT2","CRB2","CREB3L3","CRLF1","CRPPA","CRYAB","CSF1R","CSF2RA","CSF2RB","CSRP3","CTH","CTLA4","CTNNB1","CTNS","CTRC","CUL3","CYC1","CYP11A1","CYP11B1","CYP11B2","CYP17A1","CYP19A1","CYP24A1","CYP27A1","CYP27B1","CYP2R1","CYP3A4","CYP7A1","CYP7B1","DAAM2","DAG1","DBH","DBT","DCAF17","DCDC2","DCLRE1C","DCXR","DEAF1","DEF6","DES","DGAT1","DGCR2","DGCR6","DGCR8","DGKE","DGUOK","DHCR24","DHCR7","DHX16","DIO1","DLD","DLK1","DLST","DMD","DMGDH","DMP1","DNA2","DNAJB11","DNAJB4","DNAJB6","DNAJC19","DNAJC21","DNAJC30","DNM1L","DNM2","DNMT3A","DNMT3B","DOK7","DOLK","DPAGT1","DPM1","DPM2","DPM3","DPYS","DSG1","DSG2","DSP","DTYMK","DUOX2","DUOXA2","DUX4","DUX4L1","DYRK1B","DYSF","DZIP1L","EARS2","EBP","EFL1","EGF","EHHADH","EIF2AK3","EIF4H","ELF4","ELN","ELP1","EMD","EMP2","ENO3","ENPP1","EPAS1","EPB41","EPB42","EPG5","EPHX2","ERCC4","ERCC6","ERCC8","ERGIC1","ESS2","ETFA","ETFB","ETFDH","ETHE1","FAH","FAM111A","FAM111B","FAM20C","FAN1","FARSA","FARSB","FAT4","FBN1","FBP1","FBXL4","FDFT1","FDX2","FECH","FGF23","FGFR1","FGFR3","FH","FHL1","FHL2","FKBP14","FKBP6","FKRP","FKTN","FLAD1","FLCN","FLI1","FLII","FLNC","FLT1","FN1","FOCAD","FOS","FOXI1","FOXP1","FOXP3","FOXRED1","FRG1","FTCD","FTH1","FTL","FXYD2","G6PC1","G6PD","GAA","GABRA3","GALE","GALK1","GALM","GALNT2","GALNT3","GALT","GAMT","GANAB","GAPVD1","GATA1","GATA3","GATAD1","GATB","GATC","GATM","GBE1","GCDH","GCH1","GCK","GCM2","GEMIN4","GFER","GFPT1","GGPS1","GHR","GIPC1","GK","GLA","GLDC","GLIS3","GLRX5","GLS","GLUD1","GLUL","GLYCTK","GMPPB","GNA11","GNAS","GNAS-AS1","GNB2","GNE","GNMT","GNPAT","GNPTAB","GNPTG","GOLGA2","GOSR2","GOT2","GP1BB","GPD1","GPHN","GPIHBP1","GPR35","GPX1","GSR","GTF2I","GTF2IRD1","GTF2IRD2","GUCY2D","GYG1","GYPC","GYS2","HACD1","HADH","HADHA","HADHB","HAL","HAMP","HAND2","HAVCR2","HBB","HCFC1","HESX1","HEXB","HFE","HHAT","HINT1","HIRA","HJV","HK1","HLA-DPA1","HLA-DPB1","HLA-DQA1","HLA-DQB1","HLA-DRB1","HLCS","HMBS","HMGCL","HMOX1","HNF1A","HNF1B","HNF4A","HNRNPA1","HNRNPA2B1","HNRNPDL","HPD","HPRT1","HRAS","HS6ST2","HSD11B2","HSD17B10","HSD17B4","HSD3B2","HSD3B7","HSPG2","HTT","IARS1","IBA57","IDH2","IFIH1","IFNG","IFNGR1","IFT122","IFT140","IFT172","IGF1","IGFALS","IL10","IL12A","IL12RB1","IL1RN","IL36RN","IL37","IL6","IL6R","IL6ST","IMPDH2","INF2","INPP5K","INPPL1","INS","INSR","INVS","IQSEC2","IRF4","IRF5","IRF6","IRF8","ISCA1","ISCU","ITGA3","ITGA7","ITGB2","ITGB4","ITK","ITPR3","IYD","JAG1","JAG2","JMJD1C","JPH2","KARS1","KBTBD13","KCNA1","KCNE1","KCNE2","KCNE3","KCNH2","KCNJ1","KCNJ10","KCNJ11","KCNJ18","KCNJ2","KCNJ5","KCNN4","KCNQ1","KIF12","KIF1B","KIF23","KIT","KL","KLF1","KLF11","KLHL3","KLHL41","KLHL9","KLKB1","KMT2D","KNG1","KRAS","KRT14","KRT18","KRT5","KY","KYNU","L2HGDH","LACC1","LAMA1","LAMA2","LAMA3","LAMA4","LAMB2","LAMB3","LAMC2","LAMP2","LARGE1","LARS2","LBR","LCAT","LDB3","LDHA","LDLR","LDLRAP1","LEP","LEPR","LHX3","LHX4","LIG3","LIMK1","LIMS2","LIPA","LIPC","LIPE","LIPT1","LIPT2","LMAN1","LMBRD1","LMF1","LMNA","LMNB2","LMOD2","LMOD3","LONP1","LPIN1","LPL","LRP12","LRP5","LRP6","LRPPRC","LTBP4","LTC4S","LYRM7","LYST","MAD2L2","MAGED2","MAGI2","MARS1","MAT1A","MATR3","MAX","MB","MC2R","MC4R","MCCC1","MCCC2","MCEE","MCFD2","MCM10","MDH1","MDH2","MECP2","MED12","MEF2A","MEFV","MEG3","MEGF10","MEN1","MET","METTL27","MGME1","MICOS13","MICU1","MIEF2","MIF","MIPEP","MKS1","MLIP","MLXIPL","MMAA","MMAB","MMACHC","MMADHC","MMEL1","MMP1","MMUT","MOCOS","MOCS1","MOCS2","MPC1","MPDU1","MPI","MPO","MPV17","MPZ","MRAP","MRM2","MRPL3","MRPS14","MRPS2","MRPS22","MRPS7","MSMO1","MST1","MSTO1","MT-ATP6","MT-ATP8","MT-CO1","MT-CO3","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND5","MT-ND6","MT-TE","MT-TF","MT-TI","MT-TK","MT-TL1","MT-TL2","MT-TN","MT-TP","MT-TS1","MT-TV","MT-TW","MTHFD1","MTHFR","MTMR14","MTO1","MTR","MTRR","MTTP","MTX2","MUC1","MVK","MYBPC3","MYC","MYF6","MYH14","MYH6","MYH7","MYL1","MYL2","MYMK","MYO1E","MYO5A","MYO5B","MYOT","MYPN","NAA10","NAB2","NADK2","NAGS","NARS2","NBAS","NCF1","NCF4","NDUFA1","NDUFA11","NDUFA13","NDUFA6","NDUFAF1","NDUFAF2","NDUFAF3","NDUFAF4","NDUFAF5","NDUFAF6","NDUFAF8","NDUFB10","NDUFB11","NDUFB3","NDUFB8","NDUFB9","NDUFC2","NDUFS1","NDUFS2","NDUFS3","NDUFS4","NDUFS6","NDUFS7","NDUFS8","NDUFV1","NDUFV2","NEB","NEFH","NEFL","NEUROD1","NEXN","NF1","NFE2L2","NFKB2","NFKBIL1","NFS1","NFU1","NGLY1","NHERF1","NHLRC2","NLRC4","NLRP1","NLRP12","NLRP3","NNT","NOS1","NOS1AP","NOS3","NOTCH2NLC","NOTCH3","NPHP1","NPHS1","NPHS2","NPPA","NPR2","NR0B1","NR1H4","NR3C1","NR3C2","NR4A2","NRAS","NSD1","NSDHL","NSMCE2","NSUN2","NT5E","NUBPL","NUP107","NUP133","NUP160","NUP205","NUP214","NUP37","NUP85","NUP93","OAT","OBSCN","OCRL","ODC1","ORAI1","OSGEP","OSTM1","OTC","OTUD5","OTULIN","OTX2","PABPN1","PAFAH1B1","PAH","PANK2","PAPPA2","PAX2","PAX4","PAX8","PBX1","PC","PCBD1","PCCA","PCCB","PCK1","PCSK9","PCYT1A","PDGFB","PDGFRB","PDHA1","PDHB","PDHX","PDK3","PDP1","PDSS2","PDX1","PET100","PET117","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PEX7","PFKM","PGAM2","PGK1","PGM1","PHEX","PHGDH","PHKA1","PHKA2","PHKB","PHKG2","PHYH","PIEZO1","PIEZO2","PIGA","PIGH","PIGN","PIGT","PIGY","PIK3C2A","PIK3CG","PIK3R5","PITRM1","PKD1","PKD2","PKHD1","PKLR","PLA2G4A","PLA2G6","PLA2G7","PLAU","PLCE1","PLEC","PLEKHG5","PLEKHM1","PLG","PLIN1","PLIN4","PLN","PLVAP","PLXNA1","PMM2","PNKP","PNLIP","PNP","PNPLA2","PNPLA6","PNPLA8","PNPO","POGLUT1","POLD1","POLG","POLG2","POLR3A","POLRMT","POMC","POMGNT1","POMGNT2","POMK","POMP","POMT1","POMT2","POPDC3","POR","POU1F1","POU2AF1","PPARG","PPCS","PPM1B","PPM1K","PPOX","PPP1R17","PRDM16","PRDX1","PREPL","PRF1","PRKAR1A","PRKCD","PRKCSH","PRODH","PROP1","PRPS1","PRSS1","PRSS2","PRTN3","PRUNE1","PSAP","PSAT1","PSEN1","PSEN2","PSMB10","PSMB4","PSMB8","PSMB9","PSPH","PSTPIP1","PTEN","PTH","PTH1R","PTPN22","PTPRO","PTS","PUS1","PYGL","PYGM","PYROXD1","QDPR","QRICH1","QRSL1","RAB27A","RACGAP1","RAF1","RAG1","RAG2","RAI1","RASA1","RBCK1","RBM20","RBP4","REN","REPS1","RET","RFC2","RFX5","RFX6","RFX7","RFXANK","RFXAP","RHAG","RHCE","RHD","RILPL1","RINT1","RMRP","RNASEH1","RNF168","RNU4ATAC","RNU7-1","ROBO1","RPIA","RPL3L","RPS20","RRAGD","RREB1","RRM2B","RSPO1","RTL1","RXYLT1","RYR1","SAMD9","SAR1B","SARDH","SARS2","SBDS","SC5D","SCARB2","SCN10A","SCN4A","SCN4B","SCN5A","SCNN1A","SCNN1B","SCNN1G","SCO1","SCO2","SCP2","SCYL2","SDHA","SDHAF2","SDHB","SDHC","SDHD","SEC24C","SEC61A1","SEC63","SECISBP2","SEMA4A","SEMA4D","SEMA7A","SERAC1","SERPINA1","SERPINA6","SERPINE1","SETD2","SETX","SGCA","SGCB","SGCD","SGCG","SGPL1","SH2B1","SH2D1A","SIL1","SKIC2","SKIC3","SLC10A1","SLC11A2","SLC12A1","SLC12A3","SLC12A6","SLC16A1","SLC17A5","SLC19A1","SLC20A2","SLC22A12","SLC22A4","SLC22A5","SLC25A11","SLC25A13","SLC25A15","SLC25A20","SLC25A26","SLC25A36","SLC25A38","SLC25A4","SLC25A42","SLC26A3","SLC26A4","SLC29A3","SLC2A1","SLC2A2","SLC2A3","SLC2A9","SLC30A10","SLC30A2","SLC30A9","SLC31A1","SLC33A1","SLC34A1","SLC34A2","SLC34A3","SLC35A2","SLC36A2","SLC37A4","SLC39A14","SLC39A4","SLC39A8","SLC3A1","SLC40A1","SLC41A1","SLC4A1","SLC4A2","SLC4A4","SLC51A","SLC51B","SLC52A1","SLC5A1","SLC5A5","SLC6A18","SLC6A19","SLC6A20","SLC6A3","SLC6A6","SLC6A8","SLC7A7","SLCO1B1","SLCO1B3","SLCO2A1","SMAD4","SMARCAL1","SMCHD1","SMPD1","SNTA1","SNX10","SORD","SPATA5","SPEG","SPIB","SPINK1","SPR","SPTA1","SPTB","SPTBN1","SPTBN4","SQOR","SQSTM1","SRP54","STAR","STAT2","STAT6","STEAP3","STIM1","STING1","STK11","STOX1","STX11","STX16","STX1A","STXBP2","SUCLA2","SUCLG1","SUGCT","SUOX","SVIL","SYK","SYNE1","SYNE2","SYNJ1","TAF1A","TAFAZZIN","TALDO1","TANGO2","TARS2","TAT","TBC1D8B","TBCD","TBCE","TBCK","TBK1","TBL1X","TBL2","TBX1","TBX19","TBX5","TCAP","TCEAL1","TCF4","TCIRG1","TDO2","TDP1","TDP2","TERT","TF","TFAM","TFG","TFR2","TG","THBD","THRB","TIA1","TIAM1","TICAM1","TIMM22","TIMMDC1","TJP2","TK2","TKFC","TKT","TLR3","TMEM126B","TMEM127","TMEM165","TMEM199","TMEM260","TMEM270","TMEM43","TMEM67","TMEM70","TMPO","TMPRSS15","TMPRSS6","TMTC3","TNFRSF11A","TNFRSF11B","TNFRSF1A","TNFRSF9","TNFSF11","TNFSF15","TNNC1","TNNI3","TNNT1","TNNT2","TNPO3","TOP3A","TOR1AIP1","TP53","TPM1","TPM2","TPM3","TPO","TRAF3","TRAPPC11","TRAPPC2L","TRDN","TREX1","TRHR","TRIM32","TRIO","TRIP4","TRMT10C","TRMU","TRNT1","TRPC6","TRPM6","TRPV4","TSFM","TSHB","TSHR","TTC26","TTN","TTPA","TTR","TUFM","TWNK","TXNRD2","TYMP","UBA1","UBE2A","UBE3B","UBR1","UCP2","UFD1","UGT1A1","UMOD","UNC13D","UNC45A","UNC93B1","UPB1","UQCRC2","UQCRFS1","UQCRH","UROC1","UROD","UROS","USB1","USP53","USP8","VAC14","VAPB","VARS2","VCL","VCP","VDR","VEZF1","VHL","VIPAS39","VMA21","VPS13A","VPS33A","VPS33B","VPS37D","VPS50","WDR19","WDR35","WDR4","WDR73","WNK1","WNK4","WRN","WT1","XDH","XIAP","XK","XRCC4","YARS1","YME1L1","ZBTB20","ZMPSTE24","ZNF699","ZNFX1","ZNRF3","ZPR1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_PROPORTION_OF_MEMORY_T_CELLS":{"collection":"C5:HPO","systematicName":"M46312","pmid":"","exactSource":"HP:0032182","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0032182","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PROPORTION_OF_MEMORY_T_CELLS","geneSymbols":["BCL10","NCKAP1L","PIK3CG","SASH3","TCF3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CIRCULATING_FREE_T3_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M46313","pmid":"","exactSource":"HP:0032209","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0032209","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_FREE_T3_CONCENTRATION","geneSymbols":["MADD","NKX2-5","POU1F1","SECISBP2","THRB","TRHR","TSHR"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DECREASED_CIRCULATING_FREE_T3":{"collection":"C5:HPO","systematicName":"M47278","pmid":"","exactSource":"HP:0032210","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0032210","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_CIRCULATING_FREE_T3","geneSymbols":["MADD","NKX2-5","POU1F1","SECISBP2","TRHR"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PERINUCLEAR_ANTINEUTROPHIL_ANTIBODY_POSITIVITY":{"collection":"C5:HPO","systematicName":"M46314","pmid":"","exactSource":"HP:0032229","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0032229","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERINUCLEAR_ANTINEUTROPHIL_ANTIBODY_POSITIVITY","geneSymbols":["ARPC1B","BACH2","CTNNB1","DEF6","DNASE1L3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPOCHROMIA":{"collection":"C5:HPO","systematicName":"M38533","pmid":"","exactSource":"HP:0032231","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0032231","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOCHROMIA","geneSymbols":["GLRX5","HBB","RHAG","RHCE","RHD","SLC11A2","SLC25A38","STEAP3","UMPS"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INCREASED_CIRCULATING_CREATINE_KINASE_MB_ISOFORM":{"collection":"C5:HPO","systematicName":"M47279","pmid":"","exactSource":"HP:0032232","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0032232","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_CIRCULATING_CREATINE_KINASE_MB_ISOFORM","geneSymbols":["DMD","DSG2","FHL1","GAA","SLC30A9"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CERVICAL_NEOPLASM":{"collection":"C5:HPO","systematicName":"M47280","pmid":"","exactSource":"HP:0032241","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0032241","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CERVICAL_NEOPLASM","geneSymbols":["CDKN1B","CXCR4","FGFR3","GATA2","MAD1L1","SRY","STK11"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_TISSUE_METABOLITE_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M38534","pmid":"","exactSource":"HP:0032243","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0032243","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_TISSUE_METABOLITE_CONCENTRATION","geneSymbols":["ABCD1","ABCG5","ABCG8","ABHD5","ACAD9","ACADM","ACADS","ACADVL","ACBD5","ACOX1","ACSL5","ACTA1","ADK","AFG3L2","AGPAT2","AKR1D1","AKT2","ALDOB","ALMS1","APOB","APOE","ARMC5","ARSA","ATP6AP1","ATP6AP2","ATP7B","BCS1L","BLM","BMP6","BSCL2","CACNA1S","CARS2","CASZ1","CAV1","CAVIN1","CBS","CCDC115","CEP19","CHCHD10","CIDEC","CLPB","COA8","COL12A1","COL25A1","COL6A1","COL6A2","COL6A3","COQ2","COQ8A","COQ9","COX15","COX6A2","CP","CPT1A","CPT2","CYP19A1","CYP7A1","DDOST","DEF6","DGUOK","DHCR7","DNAJC19","DOCK2","DPM1","EARS2","ENO3","ETFA","ETFB","ETFDH","FARS2","FARSA","FARSB","FBP1","FOCAD","FOS","FTH1","FTL","GAA","GABRA3","GABRD","GLA","GLRX5","GM2A","GNAS","GNB2","GPD1","GYG1","GYS1","HADH","HADHA","HADHB","HBB","HEPACAM","HEXA","HEXB","HMGCL","HNF1B","HNF4A","HNRNPA1","HNRNPA2B1","HSD17B4","HSPG2","IARS1","IFIH1","IFT27","ISCU","KBTBD13","KCNAB2","KCNE3","KCNJ18","KHK","KLHL41","KMT2B","LARS1","LDLR","LDLRAP1","LIG3","LIPA","LIPE","LMNA","LMNB2","LPIN1","LRPPRC","LUZP1","LYRM4","MARS1","MCCC1","MCOLN1","MICOS13","MIPEP","MMP23B","MPV17","MRPL3","MRPL44","MRPS7","MSTO1","MT-CO1","MT-CO3","MT-TE","MT-TN","MT-TS1","MTTP","MTX2","MYH7","MYPN","NAA10","NDUFA4","NDUFAF1","NDUFS4","NEB","NFS1","NGLY1","NHLRC2","NSMCE2","OBSCN","PCK1","PCK2","PCSK9","PDPN","PDSS2","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PFKM","PGM1","PHKA1","PHKA2","PHKB","PHKG2","PIGA","PLIN1","PMM2","PNPLA2","POLD1","POLG","POLG2","POLR3A","PPARG","PRDM16","PRKCZ","PSAP","PTEN","PTRH2","PYGL","PYGM","RERE","RINT1","RMND1","RNU7-1","RRM2B","SAR1B","SCN4A","SCO1","SDHA","SELENON","SKI","SLC11A2","SLC22A5","SLC25A13","SLC25A20","SLC2A2","SLC30A10","SLC37A4","SLC40A1","SLC51B","SLCO1B1","SLCO1B3","SPEN","SPTBN1","STAC3","STEAP3","SUCLG1","SURF1","TARS2","TBX1","TFAM","TKFC","TMEM199","TPM2","TPM3","TRAPPC11","TRMU","TTN","TYMP","UBE4B","UNC45A","VCP","VPS33A","VPS4A","XRCC4","YARS1","ZFHX4","ZPR1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_METABOLISM":{"collection":"C5:HPO","systematicName":"M38535","pmid":"","exactSource":"HP:0032245","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0032245","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_METABOLISM","geneSymbols":["ABCD1","ABCD4","ACOX2","ACSF3","AGA","AKR1D1","ALDH18A1","ALDH4A1","ALDH6A1","ALDOB","ALG1","ALG11","ALG12","ALG13","ALG2","ALG3","ALG6","ALG8","AMACR","AMN","APOB","ATP6AP1","ATP6AP2","ATP6V0A2","ATP6V1A","ATP6V1E1","B4GALT1","BCO1","CAD","CAMLG","CASP10","CBLIF","CBS","CCDC115","CCND1","CD320","CLCN5","COG1","COG2","COG4","COG5","COG6","COG7","COG8","COL7A1","CTNS","CUBN","CYP27B1","CYP2R1","CYP3A4","CYP7A1","CYP7B1","DDOST","DHFR","DLAT","DMP1","DNAJC21","DOLK","DPAGT1","DPM1","DPM2","DPM3","DZIP1L","EDEM3","EFL1","ELN","ENPP1","ERCC2","ERCC3","ERCC4","ERCC5","FARSB","FAS","FASLG","FBLN5","FGF23","FOCAD","FTCD","GALM","GALNT2","GALNT3","GALT","GATA1","GBA2","GET4","GORAB","GPR35","GRM7","GUCY2C","HCFC1","HLA-DQA1","HLA-DQB1","IARS1","KHK","KL","LMBRD1","LRP5","MAGT1","MAN1B1","MGAT2","MMAA","MMAB","MMACHC","MMADHC","MMP1","MMUT","MPDU1","MPI","MST1","MTHFD1","MTR","MTRR","MTTP","OCRL","OTUD5","PGM1","PGM2L1","PKHD1","PMM2","PNPLA8","PRDX1","PRKCD","PTH1R","RASGRP1","RFT1","RNF13","RPL11","RPS10","SAR1B","SBDS","SEMA4D","SIM1","SLC10A1","SLC19A1","SLC2A2","SLC30A10","SLC34A1","SLC34A3","SLC35A2","SLC37A4","SLC39A8","SLC46A1","SLC51B","SLC52A1","SPTBN1","SRD5A3","SRP54","SSR4","STT3A","STT3B","SUCLA2","SUCLG1","TAT","TCF4","TCN2","TJP2","TMEM199","TTPA","TTR","UROS","VDR","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PERSISTENT_CMV_VIREMIA":{"collection":"C5:HPO","systematicName":"M46315","pmid":"","exactSource":"HP:0032247","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0032247","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERSISTENT_CMV_VIREMIA","geneSymbols":["IL2RB","LAT","MAGT1","PIK3R1","REL","TPP2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_IMMUNE_SYSTEM_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M38536","pmid":"","exactSource":"HP:0032251","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0032251","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_IMMUNE_SYSTEM_MORPHOLOGY","geneSymbols":["AARS1","ABCB4","ABCC9","ABCD4","ABHD5","ABL1","ACAT1","ACD","ACP5","ACTC1","ACTN2","ACVRL1","ADA","ADA2","ADAMTS3","ADAR","ADH5","AGA","AGR2","AK2","ALAD","ALG12","AMN","ANAPC1","ANKRD1","ANKRD26","AP1S3","AP3B1","AP3D1","APC","APC2","APOE","ARHGAP26","ARHGAP31","ARHGEF1","ARPC1B","ASAH1","ASXL1","ATM","ATP11A","ATP6AP1","ATP6AP2","ATRX","B2M","BACH2","BAG3","BAG5","BANK1","BAX","BCL10","BCL11B","BCOR","BCR","BLK","BLM","BLNK","BLOC1S6","BRAF","BRCA1","BRCA2","BRD4","BRIP1","BTK","BTNL2","BUB1","BUB1B","BUB3","C4A","C4B","CA2","CALR","CAMK2B","CAP2","CAPN3","CARD10","CARD11","CARD9","CARMIL2","CARS1","CASK","CASP10","CASP8","CASR","CBL","CCBE1","CD19","CD247","CD27","CD28","CD3D","CD3E","CD3G","CD4","CD40","CD40LG","CD70","CD79A","CD79B","CD81","CD8A","CDC40","CDCA7","CDH23","CDKN2A","CDSN","CEBPA","CEBPE","CEP57","CFTR","CHD7","CHEK2","CHIC2","CIITA","CLCN7","CLN3","CLN5","CLPB","COG4","CORO1A","CPA1","CR2","CREBBP","CRYAB","CSF3R","CSRP3","CTC1","CTLA4","CTNNBL1","CTPS1","CTRC","CTSC","CUBN","CXCR2","CXCR4","CYBA","CYBB","CYBC1","CYP26C1","DCLRE1B","DCLRE1C","DDR2","DDX41","DEF6","DES","DIAPH1","DKC1","DLL4","DLX3","DMD","DMP1","DNAJC21","DNASE1","DNASE2","DNMT3A","DNMT3B","DOCK2","DOCK6","DOCK8","DOLK","DSG2","DSP","DUT","DYNC2LI1","EFL1","EIF2AK3","ELANE","ELF4","ENG","ENPP1","EOGT","EP300","EPB42","EPG5","EPX","ERBB3","ERCC2","ERCC3","ERCC4","ERCC6L2","ETS1","ETV6","EVC","EVC2","EXTL3","F13A1","F13B","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FAS","FASLG","FAT4","FBXL4","FBXW7","FCGR2A","FCGR2B","FCGR3A","FCGR3B","FCHO1","FDX2","FERMT3","FGF23","FGFR3","FHL2","FIBP","FIP1L1","FKTN","FLT3","FMO3","FNIP1","FOCAD","FOXN1","FOXP3","FTCD","FUCA1","FUT8","G6PC3","G6PD","GATA1","GATA2","GATAD1","GBA1","GFI1","GINS1","GJB2","GJB6","GLB1","GLI1","GNB1","GPI","GPR35","GSS","GTF2E2","GTF2H5","H4C9","HAND2","HAVCR2","HAX1","HBB","HEATR3","HELLS","HLA-B","HLA-DPA1","HLA-DPB1","HLA-DRB1","HMGCL","HSCB","HTRA2","HYOU1","ICOS","IDH1","IFIH1","IFNG","IFNGR1","IGHG1","IGHG2","IGHM","IGKC","IGLL1","IKBKB","IKBKG","IKZF1","IKZF3","IL10","IL10RA","IL10RB","IL17RA","IL1RN","IL21","IL2RA","IL2RB","IL2RG","IL36RN","IL37","IL6R","IL6ST","IL7","IL7R","IPO8","IRAK1","IRAK4","IRF2BP2","IRF5","IRF8","ISCU","ITCH","ITGAM","ITGB2","ITK","IVD","IVNS1ABP","JAGN1","JAK1","JAK2","JAK3","JAZF1","JPH2","KIAA0319L","KIF11","KIT","KLHDC8B","KNSTRN","KRAS","LACC1","LAMA4","LAMTOR2","LAT","LBR","LCK","LCP2","LDB3","LEP","LEPR","LIG1","LIG4","LIPA","LMBRD1","LMNA","LMNB2","LMOD2","LPIN2","LPP","LRBA","LRRC8A","LSM11","LYST","LZTR1","MAD2L2","MAGT1","MALT1","MAN2B1","MAP2K1","MBD4","MCM10","MCM4","MDM2","MDM4","MECOM","MECP2","MEFV","MGAT2","MICU1","MLH1","MLLT10","MMAA","MMAB","MMACHC","MMUT","MNX1","MPEG1","MPL","MPLKIP","MS4A1","MSH2","MSN","MST1","MTHFD1","MTRR","MVK","MYBPC3","MYC","MYD88","MYH6","MYH7","MYH9","MYPN","MYSM1","NABP1","NAE1","NAF1","NBAS","NBN","NCAPG2","NCF1","NCF2","NCF4","NCKAP1L","NDUFA6","NEU1","NEXN","NF1","NFKB1","NFKB2","NFKBIA","NHEJ1","NHLRC2","NHP2","NLRC4","NLRP1","NLRP12","NLRP3","NOP10","NOTCH1","NPC1","NPC2","NPM1","NR3C1","NRAS","NSD1","NSMCE3","NSUN2","NTRK1","NUMA1","NUP214","NUTM1","OAS1","ORAI1","OSTM1","OTUD5","OTULIN","PACS2","PALB2","PALLD","PARN","PCCA","PCCB","PDCD1","PDGFRA","PDGFRB","PGM3","PHEX","PI4KA","PICALM","PIGA","PIGL","PIK3CA","PIK3CD","PIK3CG","PIK3R1","PKHD1","PLCG2","PLN","PML","PMM2","PNP","PNPLA2","POMP","POT1","PPCS","PPIL1","PPT1","PRDM16","PRDX1","PRF1","PRIM1","PRKACA","PRKACB","PRKAR1A","PRKCD","PRKDC","PRSS1","PRSS2","PRTN3","PSEN1","PSEN2","PSENEN","PSMB4","PSMB9","PSTPIP1","PTEN","PTPN11","PTPN22","PTPRC","PXK","RAB27A","RABL3","RAC2","RAD51","RAD51C","RAF1","RAG1","RAG2","RARA","RASGRP1","RB1","RBCK1","RBM20","RBM8A","RBPJ","RECQL4","REL","RELB","RFWD3","RFX5","RFXANK","RFXAP","RHOH","RIPK1","RMRP","RNASEH2A","RNASEH2B","RNASEH2C","RNF113A","RNU4ATAC","RNU7-1","RPA1","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL3L","RPL5","RPL8","RPL9","RPS10","RPS14","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS7","RRAS2","RTEL1","RUNX1","SALL4","SAMD9","SAMD9L","SAMHD1","SARS2","SASH3","SAT1","SBDS","SCARB2","SCN10A","SCN11A","SCN5A","SCN9A","SDHA","SEC61A1","SEMA4D","SETBP1","SETD2","SF3B1","SFXN4","SGCD","SGCG","SGPL1","SH2B3","SH2D1A","SH3GL1","SKIC2","SKIC3","SLC17A5","SLC19A1","SLC27A4","SLC29A3","SLC35A1","SLC35C1","SLC37A4","SLC39A7","SLC46A1","SLC7A7","SLF2","SLX4","SMAD4","SMARCAL1","SMARCD2","SMPD1","SOCS1","SP110","SPI1","SPINK1","SPINK5","SPP1","SPPL2A","SPRED1","SPRED2","SREBF1","SRP19","SRP54","SRSF2","STAT1","STAT2","STAT3","STAT4","STAT5B","STIM1","STING1","STK4","STN1","STS","STX11","STXBP2","SYK","TAF1A","TAFAZZIN","TAL1","TAL2","TARS1","TBK1","TBL1XR1","TBX2","TBX21","TBXAS1","TCAP","TCF3","TCF4","TCIRG1","TCN2","TDP2","TERC","TERT","TET2","TFR2","TFRC","TGFB1","THPO","TICAM1","TINF2","TLR3","TLR7","TLR8","TMEM147","TMPO","TNFAIP3","TNFRSF13B","TNFRSF13C","TNFRSF1A","TNFRSF1B","TNFRSF9","TNFSF12","TNFSF4","TNIP1","TNNC1","TNNI3","TNNT2","TOM1","TONSL","TP53","TPM1","TPP2","TRAC","TRAF3","TREM2","TREX1","TRIP13","TRNT1","TSR2","TTC7A","TTI2","TTN","TXNRD2","TYMS","TYROBP","UBE2A","UBE2L3","UBE2T","UNC119","UNC13D","UNC93B1","UROS","USB1","USP48","USP8","VANGL1","VCL","VEZF1","VPS13B","VPS33A","VPS45","WAS","WDR1","WIPF1","WRAP53","XIAP","XRCC2","XRCC4","ZAP70","ZBTB16","ZBTB24","ZNF341","ZNF699","ZNFX1","ZPR1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_GRANULOMA":{"collection":"C5:HPO","systematicName":"M46316","pmid":"","exactSource":"HP:0032252","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0032252","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GRANULOMA","geneSymbols":["ACP5","CYBB","CYBC1","DNASE2","DOCK2","IRF8","NF1","PIK3CG"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_OPPORTUNISTIC_FUNGAL_INFECTION":{"collection":"C5:HPO","systematicName":"M46317","pmid":"","exactSource":"HP:0032255","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0032255","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OPPORTUNISTIC_FUNGAL_INFECTION","geneSymbols":["C1QB","CARD11","CD40LG","IKBKG","IL12RB1","IL17RC","IL21R","PIK3CD","STAT1","TGFB1","TLR8","ZBTB24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_OPPORTUNISTIC_BACTERIAL_INFECTION":{"collection":"C5:HPO","systematicName":"M45495","pmid":"","exactSource":"HP:0032260","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0032260","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OPPORTUNISTIC_BACTERIAL_INFECTION","geneSymbols":["CEACAM3","CEACAM6","CFTR","CLCA4","CYBB","DCTN4","EDNRA","GCLC","GSTM3","HFE","HMOX1","IGHG2","IGKC","IKBKG","IL12RB1","KCNN4","MIF","MPEG1","SERPINA1","SLC11A1","SLC26A9","SLC6A14","SLC9A3","STX1A","TGFB1","ZNF341","ZNFX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NONTUBERCULOUS_MYCOBACTERIAL_PULMONARY_INFECTION":{"collection":"C5:HPO","systematicName":"M47281","pmid":"","exactSource":"HP:0032261","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0032261","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NONTUBERCULOUS_MYCOBACTERIAL_PULMONARY_INFECTION","geneSymbols":["CEACAM3","CEACAM6","CFTR","CLCA4","DCTN4","EDNRA","GCLC","GSTM3","HFE","HMOX1","KCNN4","MIF","MPEG1","SERPINA1","SLC11A1","SLC26A9","SLC6A14","SLC9A3","STX1A","TGFB1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_2_HYDROXYGLUTARATE_ACIDURIA":{"collection":"C5:HPO","systematicName":"M45496","pmid":"","exactSource":"HP:0032278","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0032278","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_2_HYDROXYGLUTARATE_ACIDURIA","geneSymbols":["D2HGDH","IDH1","IDH2","L2HGDH","SLC25A1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_GRANULOCYTE_COUNT":{"collection":"C5:HPO","systematicName":"M38538","pmid":"","exactSource":"HP:0032309","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0032309","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_GRANULOCYTE_COUNT","geneSymbols":["AARS1","ABCD4","ACP5","ADA","ADA2","AGA","AK2","AMN","ANAPC1","AP3B1","AP3D1","ASXL1","ATRX","BACH2","BCL11B","BCOR","BLNK","BRAF","BTK","BTNL2","CAMK2B","CAPN3","CARD10","CARD11","CARD9","CARS1","CASP10","CBL","CD247","CD3D","CD3E","CD40","CD40LG","CD79A","CD79B","CDC40","CDH23","CDSN","CEBPE","CHD7","CIITA","CLPB","COG4","CSF3R","CTLA4","CUBN","CXCR2","CXCR4","DCLRE1C","DIAPH1","DNAJC21","DOCK8","EFL1","EIF2AK3","ELANE","EPG5","ERCC2","ERCC3","ETV6","EXTL3","FANCA","FANCC","FANCD2","FANCE","FANCG","FANCI","FAS","FASLG","FBXL4","FBXW7","FCGR3B","FDX2","FIBP","FIP1L1","FMO3","FNIP1","FOXP3","FUT8","G6PC3","GATA1","GATA2","GFI1","GINS1","GSS","GTF2E2","GTF2H5","HAX1","HEATR3","HLA-DRB1","HSCB","HTRA2","ICOS","IFNG","IGHM","IGLL1","IKBKG","IL1RN","IL2RG","IL36RN","IL6ST","IL7R","IPO8","IRAK4","IRF2BP2","IRF8","ITCH","JAGN1","JAK1","KIT","KRAS","LAMTOR2","LBR","LIG4","LMBRD1","LRBA","LRRC8A","LYST","MAD2L2","MDM4","MECOM","MEFV","MMAA","MMAB","MMACHC","MMUT","MPLKIP","MSN","MTRR","MVK","MYSM1","NABP1","NCAPG2","NDUFA6","NLRP1","NLRP3","NPM1","NR3C1","NRAS","NUMA1","OTULIN","PACS2","PCCA","PCCB","PDGFRA","PDGFRB","PGM3","PIK3CD","PIK3CG","PIK3R1","PML","PNP","PPIL1","PRDX1","PRF1","PRKAR1A","PRKCD","RAB27A","RAC2","RAG1","RAG2","RARA","RASGRP1","RBM8A","RECQL4","RELB","RFX5","RFXANK","RFXAP","RMRP","RNF113A","RNU4ATAC","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS7","RUNX1","SAMD9","SAMD9L","SASH3","SBDS","SEC61A1","SF3B1","SH2D1A","SLC27A4","SLC35A1","SLC35C1","SLC37A4","SLC39A7","SLC46A1","SMARCAL1","SMARCD2","SPI1","SPINK5","SREBF1","SRP19","SRP54","SRSF2","STAT1","STAT3","STAT5B","STK4","STX11","STXBP2","TAFAZZIN","TARS1","TBK1","TBL1XR1","TBX21","TCF3","TCIRG1","TCN2","TDP2","TERC","TERT","TET2","TFR2","TFRC","TICAM1","TLR3","TLR8","TOM1","TONSL","TP53","TPP2","TRAC","TRAF3","TSR2","UBE2A","UNC13D","UNC93B1","USB1","USP48","USP8","VPS13B","VPS33A","VPS45","WAS","WDR1","WIPF1","XIAP","ZAP70","ZBTB16","ZNF341","ZNFX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LACUNAR_STROKE":{"collection":"C5:HPO","systematicName":"M47282","pmid":"","exactSource":"HP:0032325","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0032325","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LACUNAR_STROKE","geneSymbols":["COL4A1","COLGALT1","HTRA1","NAGA","NOTCH3","PIK3C2A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INTERHEMISPHERIC_CYST":{"collection":"C5:HPO","systematicName":"M46318","pmid":"","exactSource":"HP:0032327","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0032327","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTERHEMISPHERIC_CYST","geneSymbols":["CDH2","DCC","L1CAM","LMNB2","MAN2C1","PLCH1","RNU4ATAC"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_REDUCED_FORCED_VITAL_CAPACITY":{"collection":"C5:HPO","systematicName":"M38539","pmid":"","exactSource":"HP:0032341","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0032341","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_FORCED_VITAL_CAPACITY","geneSymbols":["BAG3","CFTR","COL6A2","CRPPA","CSF2RA","FCGR2A","FKRP","GGPS1","HES7","JAG2","LRP12","MCIDAS","MEGF10","NEK10","PARN","POGLUT1","RTEL1","SFTPC","SLC25A21","STK36","SYT2","TGFB1","TNNC2","TNNT1","TPM3","TRIP4","UNC45B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_REDUCED_FORCED_EXPIRATORY_VOLUME_IN_ONE_SECOND":{"collection":"C5:HPO","systematicName":"M41565","pmid":"","exactSource":"HP:0032342","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0032342","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_FORCED_EXPIRATORY_VOLUME_IN_ONE_SECOND","geneSymbols":["CEACAM3","CEACAM6","CFTR","CLCA4","CSF2RA","DCTN4","DNAH9","EDNRA","FCGR2A","GCLC","GSTM3","HES7","HFE","HMOX1","ITCH","KCNN4","MIF","NEK10","PARN","PIEZO2","RTEL1","SERPINA1","SLC11A1","SLC26A9","SLC6A14","SLC9A3","STK36","STX1A","TGFB1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_GROWTH_HORMONE_LEVEL":{"collection":"C5:HPO","systematicName":"M38540","pmid":"","exactSource":"HP:0032367","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0032367","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_GROWTH_HORMONE_LEVEL","geneSymbols":["AIP","CDH23","CDKN1A","CDKN1B","CDKN2B","CDKN2C","DSG1","GH1","GNAS","GPR101","HPGD","IGF1","KCNJ11","MARS2","MEN1","OTX2","PDE11A","PMM2","POU1F1","PRKAR1A","PROP1","ROBO1","SLCO2A1","TMEM67"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ACIDEMIA":{"collection":"C5:HPO","systematicName":"M38541","pmid":"","exactSource":"HP:0032368","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0032368","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACIDEMIA","geneSymbols":["ABCD4","ACSF3","ALDH6A1","CD320","DNAJC19","ETFA","ETFB","ETFDH","GCDH","HCFC1","IDH2","L2HGDH","LMBRD1","MMAA","MMAB","MMACHC","MMADHC","MMUT","MTR","MTRR","PAH","PRDX1","SUCLA2","SUCLG1","SUGCT"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PERIVENTRICULAR_NODULAR_HETEROTOPIA":{"collection":"C5:HPO","systematicName":"M38542","pmid":"","exactSource":"HP:0032388","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0032388","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERIVENTRICULAR_NODULAR_HETEROTOPIA","geneSymbols":["ADGRL1","ARF1","ARFGEF2","CPLANE1","CPLX1","DCHS1","ERMARD","FAT4","FLNA","INTS8","MAP1B","NEDD4L","PRORP","TBC1D24","VPS35L","ZMIZ1","ZNF292","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SUBCORTICAL_HETEROTOPIA":{"collection":"C5:HPO","systematicName":"M38543","pmid":"","exactSource":"HP:0032391","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0032391","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUBCORTICAL_HETEROTOPIA","geneSymbols":["CEP85L","COL4A2","CRPPA","DCHS1","EML1","FAT4","KIF2A","LAMB1","PAFAH1B1","TUBB","TUBG1","TUBGCP2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DYSGYRIA":{"collection":"C5:HPO","systematicName":"M46319","pmid":"","exactSource":"HP:0032398","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0032398","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DYSGYRIA","geneSymbols":["LAMB1","MED11","PAFAH1B1","TUBA1A","TUBB2B","TUBB3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SUBCORTICAL_BAND_HETEROTOPIA":{"collection":"C5:HPO","systematicName":"M43529","pmid":"","exactSource":"HP:0032409","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0032409","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUBCORTICAL_BAND_HETEROTOPIA","geneSymbols":["CEP85L","DCHS1","EML1","FAT4","KIF2A","LAMB1","PAFAH1B1","TUBB","TUBG1","TUBGCP2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DELAYED_UMBILICAL_CORD_SEPARATION":{"collection":"C5:HPO","systematicName":"M46320","pmid":"","exactSource":"HP:0032434","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0032434","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DELAYED_UMBILICAL_CORD_SEPARATION","geneSymbols":["IL6ST","ITGB2","MYD88","RAC2","SMARCD2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NEONATAL_OMPHALITIS":{"collection":"C5:HPO","systematicName":"M46321","pmid":"","exactSource":"HP:0032435","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0032435","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEONATAL_OMPHALITIS","geneSymbols":["C1QC","CLPB","FCGR3B","G6PC3","ITGB2","RAC2","RBCK1","SMARCD2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CIRCULATING_C_REACTIVE_PROTEIN_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M41566","pmid":"","exactSource":"HP:0032436","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0032436","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_C_REACTIVE_PROTEIN_CONCENTRATION","geneSymbols":["ADA2","AP1S3","ARPC1B","C1QB","C2orf69","CARD10","CASR","CCN6","CD244","CFTR","CIITA","COPA","CPA1","CTLA4","CTRC","DEF6","ELF4","HLA-DPA1","HLA-DPB1","HLA-DRB1","HMOX1","IL10","IL1RN","IL36RN","IL37","IL6","IL6R","IL6ST","ITGB2","ITK","LACC1","MEFV","MIF","MVK","NCF4","NFKBIL1","NLRC4","NLRP1","NLRP12","NLRP3","OTULIN","POMP","PRKCD","PRSS1","PRSS2","PRTN3","PSMB8","PSTPIP1","PTPN22","SH2D1A","SLC22A4","SPINK1","STING1","SYK","TBK1","TICAM1","TLR3","TNFRSF1A","TRAF3","UBA1","UNC93B1","XIAP","ZNFX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PAST_MEDICAL_HISTORY":{"collection":"C5:HPO","systematicName":"M47283","pmid":"","exactSource":"HP:0032443","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0032443","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PAST_MEDICAL_HISTORY","geneSymbols":["ABCC8","ARNT2","CDON","CLCNKB","COL2A1","CTRC","DISP1","DLL1","FCGR3B","FGF8","FGFR1","FOXH1","FUZ","GAS1","GJA1","GLI2","HESX1","HNF1A","HYMAI","KCNJ11","MTHFR","NAA10","NKX2-5","NODAL","NUAK2","OTX2","PAH","PLAGL1","PPARG","PROKR2","PTCH1","SHH","SIX3","SLC12A3","SOX2","SOX3","SPINK1","SUFU","TDGF1","TGIF1","VANGL1","VANGL2","ZFP57","ZIC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PULMONARY_CYST":{"collection":"C5:HPO","systematicName":"M38544","pmid":"","exactSource":"HP:0032445","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0032445","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PULMONARY_CYST","geneSymbols":["ABCA3","AKT1","ATP11A","DICER1","DPP9","DSP","FAM13A","FLCN","IL6ST","MUC5B","PARN","PI4KA","PTEN","RTEL1","SFTPA1","SFTPA2","SFTPC","SREBF1","STN1","TERC","TERT","TTC7A","WNT4","YARS1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APLASIA_OF_THE_OLFACTORY_BULB":{"collection":"C5:HPO","systematicName":"M46322","pmid":"","exactSource":"HP:0032466","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0032466","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_OF_THE_OLFACTORY_BULB","geneSymbols":["CILK1","COL25A1","ERBB3","FGFR1","KIAA0586","KIF21A","PHOX2A","PROK2","PROKR2","SEMA3A","TUBA1A","TUBB2B","TUBB3","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LONG_THUMB":{"collection":"C5:HPO","systematicName":"M45497","pmid":"","exactSource":"HP:0032524","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0032524","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LONG_THUMB","geneSymbols":["ADH5","KAT6B","KCNN3","MED12","NPR3","PTH1R","RECQL","TBC1D24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_KNUCKLE_PAD":{"collection":"C5:HPO","systematicName":"M45498","pmid":"","exactSource":"HP:0032541","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0032541","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_KNUCKLE_PAD","geneSymbols":["CAST","GJB2","KDF1","KRT1","KRT16","KRT9","LORICRIN","SMARCAD1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_PULSE":{"collection":"C5:HPO","systematicName":"M41567","pmid":"","exactSource":"HP:0032552","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0032552","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PULSE","geneSymbols":["ABCC6","ENPP1","RASA1","XYLT1","XYLT2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABSENT_SPERM_FLAGELLA":{"collection":"C5:HPO","systematicName":"M46323","pmid":"","exactSource":"HP:0032558","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0032558","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_SPERM_FLAGELLA","geneSymbols":["AK7","AKAP3","ARMC2","CCDC34","CFAP251","CFAP43","CFAP44","CFAP47","CFAP58","CFAP65","CFAP91","DNAH1","DNAH10","DNAH17","DNAH2","DNAH8","DNHD1","DRC1","DZIP1","FSIP2","QRICH2","SPEF2","SSX1","TTC21A","TTC29","WDR19"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SHORT_SPERM_FLAGELLA":{"collection":"C5:HPO","systematicName":"M46324","pmid":"","exactSource":"HP:0032559","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0032559","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_SPERM_FLAGELLA","geneSymbols":["AK7","AKAP3","CATIP","CCDC34","CFAP251","CFAP43","CFAP44","CFAP47","CFAP58","CFAP65","CFAP69","CFAP70","CFAP74","CFAP91","DNAH1","DNAH10","DNAH17","DNAH2","DNAH7","DNAH8","DNHD1","DRC1","DZIP1","FSIP2","IFT74","QRICH2","SSX1","TTC21A","TTC29","USP26","WDR19"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_COILED_SPERM_FLAGELLA":{"collection":"C5:HPO","systematicName":"M43530","pmid":"","exactSource":"HP:0032560","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0032560","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_COILED_SPERM_FLAGELLA","geneSymbols":["AK7","AKAP3","ARMC2","CATIP","CFAP251","CFAP43","CFAP44","CFAP47","CFAP58","CFAP65","CFAP69","CFAP74","CFAP91","DNAH1","DNAH10","DNAH17","DNAH2","DNAH7","DNAH8","DNHD1","DRC1","FSIP2","KCNU1","QRICH2","SPEF2","SSX1","TTC21A","TTC29","USP26","WDR19"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MICROCEPHALIC_SPERM_HEAD":{"collection":"C5:HPO","systematicName":"M47284","pmid":"","exactSource":"HP:0032561","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0032561","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MICROCEPHALIC_SPERM_HEAD","geneSymbols":["CFAP69","CFAP91","IQCN","TTC29","USP26"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_TAPERED_SPERM_HEAD":{"collection":"C5:HPO","systematicName":"M41568","pmid":"","exactSource":"HP:0032562","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0032562","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TAPERED_SPERM_HEAD","geneSymbols":["ACTL9","ARMC2","CATIP","CFAP69","CFAP70","DNAH17","IQCN","TTC29"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_URINARY_NUCLEOBASE_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M47285","pmid":"","exactSource":"HP:0032572","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0032572","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_URINARY_NUCLEOBASE_CONCENTRATION","geneSymbols":["ATIC","CHUK","DPYD","DPYS","SLC28A1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_RENAL_INSTERSTITIAL_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M43531","pmid":"","exactSource":"HP:0032581","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0032581","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RENAL_INSTERSTITIAL_MORPHOLOGY","geneSymbols":["ACP5","ALG5","ALMS1","ANTXR1","BAZ1B","BCL7B","BCS1L","BSND","BTNL2","BUD23","CEP83","CLCN5","CLCNKB","CLIP2","CPT2","CTNS","DCDC2","DNAJC30","DPH1","DPH2","EIF4H","ELN","FAN1","FKBP6","FOXC2","FOXP3","GBE1","GTF2I","GTF2IRD1","GTF2IRD2","HLA-DRB1","IFT122","INVS","LIMK1","METTL27","MLXIPL","MMUT","MRPL3","MUC1","NCF1","NDUFAF6","NPHP1","NPHP3","NPHP4","PKHD1","PTPRO","PUS3","REN","RFC2","RPGRIP1L","SLC12A3","SLC30A9","SLC37A4","SLC7A7","STX1A","TBL2","TMEM270","TMEM67","TRAF3IP1","TULP3","VPS37D","WDR19"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HAND_APRAXIA":{"collection":"C5:HPO","systematicName":"M41569","pmid":"","exactSource":"HP:0032588","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0032588","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HAND_APRAXIA","geneSymbols":["CDKL5","GABBR2","MECP2","NTNG1","PLP1","SMC1A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_RENAL_TUBULAR_EPITHELIAL_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M47286","pmid":"","exactSource":"HP:0032599","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0032599","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RENAL_TUBULAR_EPITHELIAL_MORPHOLOGY","geneSymbols":["CEP83","CLCN5","GLIS2","ITGA3","MUC1","MYO1E","NPHP1","NPHP3","NPHP4","NPHS1","NUP107","NUP133","REN","RPGRIP1L","TMEM67","UMOD","VPS33A","VPS33B","XPNPEP3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SKEWFOOT":{"collection":"C5:HPO","systematicName":"M43532","pmid":"","exactSource":"HP:0032649","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0032649","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SKEWFOOT","geneSymbols":["ATP1A2","ATP1A3","CACNA1A","NDRG1","SLC1A3","SLC26A2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ELEVATED_LACTATE_PYRUVATE_RATIO":{"collection":"C5:HPO","systematicName":"M43533","pmid":"","exactSource":"HP:0032653","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0032653","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELEVATED_LACTATE_PYRUVATE_RATIO","geneSymbols":["BCS1L","COQ8A","CYC1","GFM1","HS6ST2","IBA57","MDH2","MRPL3","NDUFA10","NDUFA9","NDUFB10","NDUFS4","PDSS1","PRORP","SCO2","SDHA","SUCLG1","TMEM126B","TRMT10C","TSFM","UQCC3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_STATUS_EPILEPTICUS_WITH_PROMINENT_MOTOR_SYMPTOMS":{"collection":"C5:HPO","systematicName":"M38547","pmid":"","exactSource":"HP:0032658","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0032658","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_STATUS_EPILEPTICUS_WITH_PROMINENT_MOTOR_SYMPTOMS","geneSymbols":["ASAH1","BRAT1","CACNA1A","COQ8A","FBXO28","GABRA1","GABRG2","GOSR2","KCNC2","KCTD7","MAST3","MRM2","PCDH19","PDE2A","PDSS2","PEX5","POLG","SCN1A","SCN1B","SCN2A","SCN9A","SLC1A2","SLC2A1","SLC38A3","SYNJ1","TWNK","VAMP2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CONVULSIVE_STATUS_EPILEPTICUS":{"collection":"C5:HPO","systematicName":"M47287","pmid":"","exactSource":"HP:0032660","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0032660","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONVULSIVE_STATUS_EPILEPTICUS","geneSymbols":["CACNA1A","MAST3","PCDH19","PEX5","SLC2A1","SYNJ1","VAMP2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FOCAL_MOTOR_STATUS_EPILEPTICUS":{"collection":"C5:HPO","systematicName":"M43534","pmid":"","exactSource":"HP:0032663","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0032663","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOCAL_MOTOR_STATUS_EPILEPTICUS","geneSymbols":["BRAT1","COQ8A","GABRA1","GABRG2","MAST3","MRM2","PCDH19","PDE2A","PDSS2","POLG","SCN1A","SCN1B","SCN2A","SCN9A","SLC38A3","TWNK"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MYOCLONIC_STATUS_EPILEPTICUS":{"collection":"C5:HPO","systematicName":"M46325","pmid":"","exactSource":"HP:0032667","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0032667","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MYOCLONIC_STATUS_EPILEPTICUS","geneSymbols":["ASAH1","FBXO28","GOSR2","KCTD7","SLC1A2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NON_CONVULSIVE_STATUS_EPILEPTICUS_WITHOUT_COMA":{"collection":"C5:HPO","systematicName":"M41570","pmid":"","exactSource":"HP:0032671","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0032671","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NON_CONVULSIVE_STATUS_EPILEPTICUS_WITHOUT_COMA","geneSymbols":["ADGRV1","CDKN1A","CDKN1B","CDKN2B","CDKN2C","DNM1","GABRD","GABRG2","GRIN2A","HCN1","MEN1","ODC1","POLG","SCN1A","SCN1B","SCN2A","SCN9A","STX1B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_GENERALIZED_ONSET_MOTOR_SEIZURE":{"collection":"C5:HPO","systematicName":"M38548","pmid":"","exactSource":"HP:0032677","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0032677","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENERALIZED_ONSET_MOTOR_SEIZURE","geneSymbols":["ABCC8","ACSF3","ADGRG1","ADGRV1","AFG3L2","ALDH5A1","ALDH7A1","AP2M1","APC2","ARHGEF9","ARX","ASAH1","BRAT1","BTD","BUB1B","CACNA1A","CACNB4","CAMTA1","CARS2","CASK","CDKL5","CHD2","CILK1","CLCN2","CLN8","COG2","COQ5","COQ8A","COX8A","CPLX1","CUX2","DHDDS","DHFR","DMXL2","DNM1","DNM1L","DOCK7","DPAGT1","DPM1","DPM2","DYRK1A","EEF1A2","EFHC1","ELOVL4","EPM2A","EXOC8","GABBR2","GABRA1","GABRA5","GABRB3","GABRD","GABRG2","GAD1","GALC","GAMT","GBA1","GCK","GLB1","GNAO1","GNB1","GPHN","GRIN1","GRIN2A","GRM7","GRN","HACE1","HCN1","HCN2","HYMAI","IER3IP1","INS","IREB2","JRK","KARS1","KCNA1","KCNJ11","KCNMA1","KCNQ2","KCNQ3","KCNT1","KCNT2","KCTD7","KNSTRN","LMNB2","LNPK","MAPK10","MAST3","MBOAT7","MDH2","MECP2","MED13","MFSD8","MT-ATP6","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND5","MT-ND6","MT-RNR1","MT-TF","MT-TH","MT-TI","MT-TK","MT-TL1","MT-TP","MT-TQ","MT-TS1","MT-TS2","MT-TV","MT-TW","MTHFR","NARS1","NDE1","NDUFA1","NECAP1","NEU1","NEUROD2","NEXMIF","NGLY1","NHLRC1","NSD1","NTNG1","NUS1","OGDHL","OPHN1","PACS2","PAFAH1B1","PCDH12","PCDH19","PCYT2","PDX1","PHGDH","PIGA","PIGP","PIGQ","PIGT","PIK3CD","PLAGL1","PNKP","PRDM8","PRICKLE1","PRRT2","PSAP","PTEN","PTRH2","PURA","RPL10","SAMD12","SATB1","SCN1A","SCN1B","SCN2A","SCN8A","SCN9A","SDHA","SDHAF1","SDHB","SDHD","SEPSECS","SETD2","SIK1","SLC12A5","SLC1A2","SLC25A15","SLC25A22","SLC2A1","SLC32A1","SLC38A3","SLC6A1","SLC6A19","SLC9A6","SMC1A","SMS","SPATA5","STAT3","STX1B","STXBP1","SYNGAP1","TANGO2","TBC1D24","TBCD","TMX2","TRAPPC9","TRIM8","TRIT1","TSEN15","TSEN2","TSEN34","TSEN54","TUBA1A","UBE3A","VPS50","VPS53"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FOCAL_NON_MOTOR_SEIZURE":{"collection":"C5:HPO","systematicName":"M38549","pmid":"","exactSource":"HP:0032679","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0032679","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOCAL_NON_MOTOR_SEIZURE","geneSymbols":["ADGRG1","ATP1A2","CACNA1A","CNTN2","DEPDC5","EPM2A","GAL","GLI3","GRIN1","KCNA1","KCNQ2","KCNQ3","KCNT1","LGI1","MICAL1","MTHFS","NGLY1","NHLRC1","NPRL2","NPRL3","PACS1","PCDH19","PDE2A","PHGDH","PI4KA","PIGA","PLCB1","PRRT2","RELN","SCN1A","SCN2A","SCN8A","SLC12A5","SLC25A22","SLC38A3","SMO","SRPX2","TBC1D24","TREX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_TONIC_SEIZURE":{"collection":"C5:HPO","systematicName":"M38550","pmid":"","exactSource":"HP:0032792","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0032792","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TONIC_SEIZURE","geneSymbols":["ADGRV1","ADNP","AKT3","ALG13","ARFGEF1","ARHGEF9","ARX","ATP1A3","ATP6V0A1","ATP6V1A","CACNA1A","CACNA1B","CACNA1C","CACNB4","CASK","CDKL5","CENPE","CEP85L","CHD2","CLCN3","CLCN4","CNPY3","COG2","COQ8A","CPLX1","CUL3","CUX2","D2HGDH","DENND5A","DMXL2","DNM1","DOCK7","DPM1","EEF1A2","EN1","FBXO28","FGF12","FZR1","GABBR2","GABRA1","GABRA3","GABRA5","GABRB3","GABRG2","GNAO1","GNB1","GRIA2","GRIA3","GRIK2","GRIN1","GRIN2A","GRM7","HCN2","HID1","HNRNPU","KARS1","KCNA1","KCNC2","KCNQ2","KCNQ3","KCNQ5","KCNT1","KCNT2","KDM5C","LNPK","MAPK10","MAST3","MDH2","MECP2","MTHFS","MTOR","NACC1","NAPB","NECAP1","NEUROD2","NEXMIF","NGLY1","NSF","PACS2","PAFAH1B1","PCDH12","PCDH19","PHACTR1","PIGP","PIGQ","PIGT","PIGW","PIK3CA","PLCB1","PLPBP","PNKP","POMK","PPFIBP1","PPP3CA","PRRT2","PSAP","PTPN23","PURA","RPL10","RUSC2","SATB1","SCN1A","SCN1B","SCN2A","SCN8A","SCN9A","SIK1","SLC1A2","SLC25A12","SLC25A22","SLC32A1","SLC38A3","SLC6A19","SQOR","ST3GAL3","STX1B","STXBP1","SYNJ1","SZT2","TANGO2","TBCD","TBL1XR1","TMEM147","TRIM8","TSEN2","TUBA1A","UFSP2","VPS50","VPS53","WDR45B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MYOCLONIC_SEIZURE":{"collection":"C5:HPO","systematicName":"M38551","pmid":"","exactSource":"HP:0032794","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0032794","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MYOCLONIC_SEIZURE","geneSymbols":["AARS1","ABCC8","ADGRG1","ADGRV1","AFG3L2","ALDH5A1","ALDH7A1","ALG13","AP2M1","AP3D1","APC2","ARFGEF1","ARX","ASAH1","ATP5F1A","ATP5F1D","ATP5F1E","ATP5MK","ATP6V1A","ATPAF1","ATPAF2","BRAT1","BTD","BUB1B","CACNA1A","CACNA1B","CACNA1C","CACNA1D","CAMK2A","CAMTA1","CARS2","CDC40","CDKL5","CEP85L","CHD2","CHD3","CIC","CILK1","CLCN2","CLCN3","CLN3","CLN5","CLN8","CLPB","CNPY3","COL18A1","COX8A","CPLX1","CSNK2B","CTNNA2","CTSD","CUX2","D2HGDH","DALRD3","DENND5A","DHDDS","DHFR","DMXL2","DNAJC5","DNM1","DNM1L","DPAGT1","DPH5","DPM1","DPM2","DYRK1A","EEF1A2","EFHC1","ELOVL4","EPM2A","EXOC7","EXOC8","EXOSC5","EXTL3","FARS2","FBXO28","FZR1","GABBR2","GABRA1","GABRA5","GABRB3","GABRD","GABRG2","GAD1","GALC","GAMT","GBA1","GCK","GLB1","GM2A","GNB1","GOSR2","GPAA1","GPHN","GRIK2","GRIN1","GRIN2A","GRIN2B","GRN","HACE1","HCN1","HCN4","HEXB","HID1","HYMAI","IER3IP1","INS","KCNA2","KCNC1","KCNC2","KCNJ11","KCNMA1","KCNQ2","KCNT1","KCNT2","KCTD7","KIF11","KNSTRN","LMNB2","LNPK","MACF1","MAPK10","MAST3","MBOAT7","MDH2","MECP2","MED11","MFSD8","MICOS13","MT-ATP6","MT-ATP8","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND5","MT-ND6","MT-RNR1","MT-TF","MT-TH","MT-TI","MT-TK","MT-TL1","MT-TP","MT-TQ","MT-TS1","MT-TS2","MT-TV","MT-TW","MTHFR","NARS1","NAXE","NBEA","NCDN","NDE1","NDUFA1","NDUFAF3","NDUFV1","NEU1","NEXMIF","NGLY1","NHLRC1","NSD1","NTNG1","NUS1","OPHN1","PACS2","PAFAH1B1","PCDH12","PCDH19","PDX1","PGAP2","PGAP3","PHGDH","PIGA","PIGL","PIGQ","PIGT","PIK3CD","PLAGL1","PLCB1","PLPBP","POLG","POU4F1","PPFIBP1","PPIL1","PPP1R21","PPP3CA","PRDM8","PRICKLE1","PRUNE1","PSAP","PTEN","PTPN23","PTRH2","PYCR2","RAB18","RBL2","RFX7","ROGDI","RTN4IP1","SAMD12","SATB1","SCN1A","SCN1B","SCN2A","SCN9A","SDHA","SDHAF1","SDHB","SDHD","SEPSECS","SETD1B","SETD2","SIK1","SLC12A5","SLC1A2","SLC25A15","SLC25A22","SLC2A1","SLC38A3","SLC6A1","SMC1A","SMS","SPATA5","SPATA5L1","ST3GAL3","STAT3","STX1B","STXBP1","SYNGAP1","SYNJ1","TANGO2","TBC1D24","TGFB1","TMEM231","TRAPPC9","TRIT1","TSEN15","TSEN2","TSEN34","TSEN54","UFC1","VPS53","YWHAG","ZNF526"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_GENERALIZED_NON_CONVULSIVE_STATUS_EPILEPTICUS_WITHOUT_COMA":{"collection":"C5:HPO","systematicName":"M47288","pmid":"","exactSource":"HP:0032860","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0032860","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENERALIZED_NON_CONVULSIVE_STATUS_EPILEPTICUS_WITHOUT_COMA","geneSymbols":["ADGRV1","CDKN1A","CDKN1B","CDKN2B","CDKN2C","DNM1","GABRD","GABRG2","HCN1","MEN1","POLG","SCN1A","SCN1B","SCN2A","SCN9A","STX1B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SEIZURE_PRECIPITATED_BY_FEBRILE_INFECTION":{"collection":"C5:HPO","systematicName":"M47289","pmid":"","exactSource":"HP:0032894","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0032894","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEIZURE_PRECIPITATED_BY_FEBRILE_INFECTION","geneSymbols":["AASS","ABHD16A","ACADM","ADGRV1","ADORA2A","AGO1","ALDH4A1","AMFR","AP2M1","AP4S1","APP","ARX","ASXL2","ATP1A2","ATP6V1A","AUH","CACNA1A","CACNA1H","CACNB4","CAMK2A","CASK","CDKL5","CEP85L","CHD2","CILK1","CLCN2","CNKSR2","COG4","CPA6","CPLX1","DEPDC5","DMXL2","DNMT3A","DPP9","DPYD","DTYMK","DYRK1A","EFHC1","EMC10","ERLIN2","FAR1","FBXO28","GABRA1","GABRA3","GABRB3","GABRD","GABRG2","GALC","GAMT","GLS","GNAO1","GNB1","GPT2","GRIA2","GRIN1","GRIN2A","GRM7","HCN1","HCN2","HERC2","HNRNPR","HS6ST2","JRK","KCNA1","KCNA2","KCNJ6","KCNQ2","KCNQ3","KCTD7","KMT5B","LMNB1","MAF","MBD5","MBOAT7","MT-TK","MVK","NEUROD2","NEXMIF","NFIX","NPRL2","NPRL3","PCDH19","PDE2A","PEPD","PGAP2","PIGP","PIGQ","PNKP","POGZ","PRRT2","PTH1R","RFX7","RNU12","RPL10","RSRC1","SATB2","SCN1A","SCN1B","SCN2A","SCN3A","SCN8A","SCN9A","SDHB","SEPSECS","SETBP1","SETD5","SIK1","SLC12A5","SLC13A3","SLC25A12","SLC25A22","SLC2A1","SLC32A1","SLC35C1","SLC44A1","SLC6A1","SPTBN1","SRPX2","STX1B","SYNGAP1","TBC1D24","TBCD","THUMPD1","TRIM8","TRIT1","TSEN15","TSEN2","TSEN34","TSEN54","VPS11","WAC","WDR11","WDR26"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_AIRWAY_HYPERRESPONSIVENESS":{"collection":"C5:HPO","systematicName":"M46326","pmid":"","exactSource":"HP:0032933","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0032933","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AIRWAY_HYPERRESPONSIVENESS","geneSymbols":["ALOX5","CCL11","HLA-G","HNMT","IL13","MUC7","PLA2G7","SCGB3A2","TNF"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_URINE_PH":{"collection":"C5:HPO","systematicName":"M38554","pmid":"","exactSource":"HP:0032943","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0032943","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_URINE_PH","geneSymbols":["ABCD4","ACAD8","ACAD9","ACADM","ACADS","ACADSB","ACADVL","ACSF3","AGXT","ALAD","ALDH5A1","ALDH6A1","ATPAF2","BCS1L","BTD","CA5A","CD320","COX16","CPOX","CPT1A","CPT2","D2HGDH","DHTKD1","ETFA","ETFB","ETFDH","ETHE1","FH","FLAD1","FOCAD","FTCD","GATA1","GATM","GCDH","GRHPR","HADH","HCFC1","HGD","HLCS","HMBS","HMGCL","HOGA1","HPD","HSPD1","IDH1","IDH2","KIF1B","L2HGDH","LDHD","LETM1","LIPT1","LMBRD1","LYRM4","MCCC1","MCCC2","MCEE","MLYCD","MMAA","MMAB","MMACHC","MMADHC","MMUT","MPC1","MRPS2","MT-ATP6","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND5","MT-ND6","MT-TK","MT-TL1","MT-TV","MT-TW","MTR","MTRR","MVK","NADK2","NDUFA9","NDUFB10","NDUFS4","NFS1","NFU1","OXCT1","OXGR1","PAH","PCCA","PCCB","PDP1","PET117","PEX1","PEX14","PGM2L1","POLG","POLRMT","PPOX","PRDX1","RET","SCO1","SDHD","SFXN4","SLC13A3","SLC18A2","SLC22A5","SLC25A1","SLC25A19","SLC25A20","SLC25A21","SLC25A4","SLC26A1","SLC52A1","SLC52A2","SUCLA2","SUCLG1","SUGCT","TAT","TCN2","TFAM","TMEM126B","TRMU","UROC1","UROS"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RENAL_INTERSTITIAL_FIBROSIS":{"collection":"C5:HPO","systematicName":"M47290","pmid":"","exactSource":"HP:0032948","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0032948","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RENAL_INTERSTITIAL_FIBROSIS","geneSymbols":["ALG5","DCDC2","FAN1","RPGRIP1L","TULP3","WDR19"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_RENAL_TUBULAR_LUMEN_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M47291","pmid":"","exactSource":"HP:0032950","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0032950","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RENAL_TUBULAR_LUMEN_MORPHOLOGY","geneSymbols":["CRB2","DCDC2","SLC41A1","TMEM67","TULP3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_BRONCHOALVEOLAR_LAVAGE_FLUID_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M38555","pmid":"","exactSource":"HP:0032973","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0032973","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BRONCHOALVEOLAR_LAVAGE_FLUID_MORPHOLOGY","geneSymbols":["ABCA3","BTNL2","COPA","CSF2RA","CSF2RB","HLA-DRB1","MARS1","MUC5B","NKX2-1","OAS1","SFTPA1","SFTPA2","SFTPB","SFTPC","SLC7A7","TERT"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CELLULAR_COMPOSITION_OF_BRONCHOALVEOLAR_FLUID":{"collection":"C5:HPO","systematicName":"M41571","pmid":"","exactSource":"HP:0032974","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0032974","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CELLULAR_COMPOSITION_OF_BRONCHOALVEOLAR_FLUID","geneSymbols":["BTNL2","COPA","HLA-DRB1","MUC5B","NKX2-1","SFTPA1","SFTPA2","SFTPC","TERT"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ELEVATED_BRONCHOALVEOLAR_LAVAGE_FLUID_NEUTROPHIL_PROPORTION":{"collection":"C5:HPO","systematicName":"M43535","pmid":"","exactSource":"HP:0032977","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0032977","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELEVATED_BRONCHOALVEOLAR_LAVAGE_FLUID_NEUTROPHIL_PROPORTION","geneSymbols":["MUC5B","NKX2-1","SFTPA1","SFTPA2","SFTPC","TERT"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PERSISTENT_HEAD_LAG":{"collection":"C5:HPO","systematicName":"M43536","pmid":"","exactSource":"HP:0032988","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0032988","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERSISTENT_HEAD_LAG","geneSymbols":["CAMK2B","CDK5","COX10","DHX30","DLAT","EN1","FARSB","GEMIN4","IFT140","LAMB2","LINS1","LYRM4","MECP2","MICOS13","MPZ","MYL1","NAA20","NEDD4L","NONO","NSRP1","SERPINH1","SLC25A12","SLC31A1","SPTBN1","SUCLG1","TIMM50","UBA1","UGP2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DELAYED_ABILITY_TO_ROLL_OVER":{"collection":"C5:HPO","systematicName":"M43537","pmid":"","exactSource":"HP:0032989","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0032989","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DELAYED_ABILITY_TO_ROLL_OVER","geneSymbols":["ACTA1","ADCY5","ATP6V0A1","CELF2","MECP2","MRPS25","NDUFA8","PGAP1","SLC25A12","SLC31A1","SON","TAF8","VPS35L","YIF1B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INCREASED_FECAL_PORPHYRIN":{"collection":"C5:HPO","systematicName":"M43538","pmid":"","exactSource":"HP:0032999","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0032999","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_FECAL_PORPHYRIN","geneSymbols":["ALAD","CPOX","GATA1","UROD","UROS"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MALE_REPRODUCTIVE_SYSTEM_NEOPLASM":{"collection":"C5:HPO","systematicName":"M38556","pmid":"","exactSource":"HP:0033019","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0033019","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MALE_REPRODUCTIVE_SYSTEM_NEOPLASM","geneSymbols":["AAGAB","AKT1","APC","AR","BARD1","BMPR1A","BRCA1","BRCA2","BRIP1","CDC73","CDH1","CDKN1B","CDKN2A","CHEK2","COL14A1","CYP11B1","DHX37","DICER1","DMRT3","EPHB2","EWSR1","FLI1","FOXE1","GATA4","GREM1","IGF2","KANSL1","KEAP1","KLF6","MAD1L1","MAP3K1","MC2R","MDM2","MRAP","MRE11","MXI1","NAB2","NBN","NNT","NR0B1","NR5A1","NTHL1","PALB2","PDE11A","PRKAR1A","PTEN","RAD50","RAD51","RAD51C","RAD51D","RNASEL","RNF43","SOX9","SRY","STAR","STAT6","STK11","STS","TP53","TXNRD2","VAMP7","WT1","WWOX","ZFHX3","ZFPM2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FEMALE_REPRODUCTIVE_SYSTEM_NEOPLASM":{"collection":"C5:HPO","systematicName":"M38557","pmid":"","exactSource":"HP:0033020","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0033020","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FEMALE_REPRODUCTIVE_SYSTEM_NEOPLASM","geneSymbols":["AKT1","APC","AURKA","AXIN2","BAX","BMPR1A","BRAF","BUB1","BUB1B","BUB3","CCND1","CDC73","CDH1","CEP57","CHEK2","COL4A5","COL4A6","COQ6","CTNNB1","DCC","DLC1","DOCK8","EP300","EPCAM","FGFR3","FH","FLCN","FLI1","GREM1","KLLN","LZTR1","MCC","MLH1","MLH3","MSH2","MSH3","MSH6","NAB2","NF2","NRAS","NTHL1","PDGFRL","PIK3CA","PLA2G2A","PMS2","POLD1","POLE","PTEN","PTPN12","PTPRJ","RAD54B","RPS20","SDHB","SDHC","SDHD","SEC23B","SEMA4A","SLC6A17","SMARCB1","SRC","STAT6","STK11","TLR2","TP53","TRIP13","USF3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DECREASED_NASAL_NITRIC_OXIDE":{"collection":"C5:HPO","systematicName":"M43539","pmid":"","exactSource":"HP:0033036","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0033036","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_NASAL_NITRIC_OXIDE","geneSymbols":["ARL2BP","CCDC65","CCNO","CFAP298","CFAP300","CFAP45","CFAP52","CFAP74","DNAAF5","DNAAF6","DNAH11","DNAH5","DNAH9","DNAI2","DNAJB13","DRC1","LRRC56","MCIDAS","ODAD3","ODAD4","RSPH1","RSPH3","RSPH4A","RSPH9","SPAG1","WDR19","ZMYND10"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MOTOR_REGRESSION":{"collection":"C5:HPO","systematicName":"M43540","pmid":"","exactSource":"HP:0033044","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0033044","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MOTOR_REGRESSION","geneSymbols":["ADH5","CLN8","COX15","DPH5","EPRS1","GLB1","HSD17B4","LRPPRC","NDUFA6","NFU1","NGLY1","POLR3GL","POLR3K","SELENOI","STN1","TRAPPC6B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_IMPAIRED_EXECUTIVE_FUNCTIONING":{"collection":"C5:HPO","systematicName":"M47292","pmid":"","exactSource":"HP:0033051","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0033051","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRED_EXECUTIVE_FUNCTIONING","geneSymbols":["APTX","CSF1R","CYLD","FAR1","NPTX1","PDGFB","SPTLC1","VPS13D"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DECREASED_CIRCULATING_TERMINAL_COMPLEMENT_COMPONENT_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M41572","pmid":"","exactSource":"HP:0033057","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0033057","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_CIRCULATING_TERMINAL_COMPLEMENT_COMPONENT_CONCENTRATION","geneSymbols":["C5","C6","C7","C8A","C8B","C9"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_MACROSCOPIC_URINE_APPEARANCE":{"collection":"C5:HPO","systematicName":"M38560","pmid":"","exactSource":"HP:0033072","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0033072","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MACROSCOPIC_URINE_APPEARANCE","geneSymbols":["ABCC2","ACTN4","AKR1D1","ALAD","ANKFY1","ANLN","APOL1","ARHGAP24","ARHGDIA","ATP11C","BLVRA","CD2AP","CLTRN","COL4A3","COQ8B","CPOX","CPT2","CRB2","DAAM2","DMD","EMP2","GAPVD1","GATA1","HMBS","INF2","IRAK1","LPIN1","MAGI2","MT-CO1","MT-CO3","MYO1E","NPHS1","NPHS2","NUP107","NUP133","NUP160","NUP205","NUP37","NUP85","NUP93","OBSCN","PAX2","PLCE1","PTPRO","PYGM","SAT1","SLC6A19","SPP1","STAT4","TBC1D8B","TRPC6","TSC1","TSC2","TTC26","UROD","UROS","WT1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CIRCULATING_FREE_T4_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M46327","pmid":"","exactSource":"HP:0033076","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0033076","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_FREE_T4_CONCENTRATION","geneSymbols":["ALB","CPE","IRS4","KCNJ18","MADD","NKX2-5","POU1F1","SECISBP2","TBL1X","THRB"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DECREASED_CIRCULATING_FREE_T4_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M46328","pmid":"","exactSource":"HP:0033078","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0033078","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_CIRCULATING_FREE_T4_CONCENTRATION","geneSymbols":["CPE","IRS4","MADD","NKX2-5","POU1F1","TBL1X"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APLASIA_HYPOPLASIA_OF_THE_THYROID_GLAND":{"collection":"C5:HPO","systematicName":"M38561","pmid":"","exactSource":"HP:0033079","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0033079","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_THYROID_GLAND","geneSymbols":["ADAMTSL1","DUOX2","FOXE1","GLI3","GNB2","HESX1","IRS4","KAT6B","KMT2D","LHX3","LHX4","NKX2-1","NKX2-5","NSDHL","PAX8","POLR1B","POLR1C","POLR1D","POU1F1","PROP1","SLC26A4","TCOF1","TRHR","TSHB","TSHR"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INCREASED_GLUTAMINE_FAMILY_AMINO_ACID_LEVEL_IN_URINE":{"collection":"C5:HPO","systematicName":"M46329","pmid":"","exactSource":"HP:0033093","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0033093","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_GLUTAMINE_FAMILY_AMINO_ACID_LEVEL_IN_URINE","geneSymbols":["AASS","LIPT1","SLC3A1","SLC7A7","SLC7A9"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INCREASED_SULFUR_AMINO_ACID_LEVEL_IN_URINE":{"collection":"C5:HPO","systematicName":"M41573","pmid":"","exactSource":"HP:0033095","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0033095","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_SULFUR_AMINO_ACID_LEVEL_IN_URINE","geneSymbols":["AASS","ABCD4","ASPH","CAMKMT","CBS","HCFC1","LMBRD1","MMACHC","MMADHC","MTHFR","MTR","MTRR","PPM1B","PRDX1","PREPL","SLC3A1","SLC7A9"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INCREASED_ASPARTATE_FAMILY_AMINO_ACID_LEVEL_IN_URINE":{"collection":"C5:HPO","systematicName":"M41574","pmid":"","exactSource":"HP:0033096","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0033096","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_ASPARTATE_FAMILY_AMINO_ACID_LEVEL_IN_URINE","geneSymbols":["AASS","GUCY2D","NADK2","SLC1A1","SLC3A1","SLC7A7","SLC7A9"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INCREASED_URINE_PROTEINOGENIC_AMINO_ACID_DERIVATIVE_LEVEL":{"collection":"C5:HPO","systematicName":"M41575","pmid":"","exactSource":"HP:0033097","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0033097","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_URINE_PROTEINOGENIC_AMINO_ACID_DERIVATIVE_LEVEL","geneSymbols":["ASPA","GPHN","GSS","MOCS1","MOCS2","OPLAH","PHYKPL","SLC13A3","SLC25A13"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INCREASED_URINARY_NON_PROTEINOGENIC_AMINO_ACID_LEVEL":{"collection":"C5:HPO","systematicName":"M41576","pmid":"","exactSource":"HP:0033098","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0033098","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_URINARY_NON_PROTEINOGENIC_AMINO_ACID_LEVEL","geneSymbols":["AASS","AGXT2","ALDH4A1","ALDH5A1","ALDH6A1","CTH","DHTKD1","DMGDH","GGT1","IBA57","LETM1","LMBRD1","MMACHC","MOCS1","NFU1","PLOD2","PRDX1","PRODH","SLC25A15","SLC36A2","SLC3A1","SLC6A18","SLC6A19","SLC6A20","SLC7A7","SLC7A9","TNFRSF11A","TNFRSF11B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INCREASED_PROTEINOGENIC_AMINO_ACID_LEVEL_IN_URINE":{"collection":"C5:HPO","systematicName":"M41578","pmid":"","exactSource":"HP:0033100","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0033100","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_PROTEINOGENIC_AMINO_ACID_LEVEL_IN_URINE","geneSymbols":["AASS","ABCD4","ACADM","ALDH4A1","AMT","ARG1","ASPH","CAMKMT","CBS","CLTRN","GLDC","GLYCTK","GUCY2D","HAL","HCFC1","IVD","LIPT1","LMBRD1","MCCC2","MMACHC","MMADHC","MTHFR","MTR","MTRR","NADK2","NFU1","OPLAH","PCCA","PCCB","PPM1B","PRDX1","PREPL","PRODH","SARDH","SLC1A1","SLC36A2","SLC3A1","SLC6A18","SLC6A19","SLC6A20","SLC7A7","SLC7A9","SUOX","TDO2","UQCRB"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CIRCULATING_PROTEINOGENIC_AMINO_ACID_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M41579","pmid":"","exactSource":"HP:0033107","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0033107","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_PROTEINOGENIC_AMINO_ACID_CONCENTRATION","geneSymbols":["AASS","ABCD4","ADK","AHCY","ALDH18A1","ALDH4A1","AMT","ARG1","ASL","ASNS","ASS1","ATP5F1A","ATP5F1B","BCAT2","BCKDHA","BCKDHB","BCKDK","BCS1L","BOLA3","CA5A","CBS","CD320","COX10","COX16","COX5A","COX8A","CPS1","DBT","DLD","FAH","FTCD","GCH1","GLDC","GLRX5","GLS","GLUL","GLYCTK","GNMT","GPHN","GUCY2D","HAL","HCFC1","HPD","IBA57","IMPDH2","IRF6","KYNU","LIPT1","LMBRD1","MAT1A","MCCC1","MCCC2","MCEE","MDH1","MICU1","MMAA","MMAB","MMACHC","MMADHC","MMUT","MTHFD1","MTHFR","MTR","MTRR","NADK2","NAGS","NDUFB10","NDUFC2","NFE2L2","NFS1","NFU1","NR4A2","OTC","PAH","PCBD1","PCCA","PCCB","PDP1","PET117","PHGDH","PNPO","PPM1K","PRDX1","PRODH","PSAT1","PSPH","PTS","QDPR","SARDH","SKIC3","SLC19A1","SLC25A13","SLC30A10","SLC36A2","SLC6A18","SLC6A19","SLC6A20","SLC7A7","SPR","SUCLG1","TALDO1","TARS2","TAT","TDO2","TFAM","TNFRSF11B","UROC1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CIRCULATING_PROTEINOGENIC_AMINO_ACID_DERIVATIVE_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M41580","pmid":"","exactSource":"HP:0033108","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0033108","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_PROTEINOGENIC_AMINO_ACID_DERIVATIVE_CONCENTRATION","geneSymbols":["ALDH4A1","ASPA","ATP5F1A","ATP5F1D","ATP5F1E","ATP5MK","ATPAF1","ATPAF2","BCKDHA","BCKDHB","CA5A","COQ9","COX10","COX16","COX5A","COX6B1","COX8A","CTH","DBT","DNM1L","DTYMK","FBP1","FBXL4","FOCAD","GAMT","HS6ST2","KARS1","LIG3","LIPT2","LMBRD1","LYRM7","MICOS13","MIPEP","MMACHC","MRPL3","MRPS14","MRPS2","MT-ATP6","MT-ATP8","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND5","MT-ND6","MT-TK","MT-TL1","MT-TV","MT-TW","MTHFR","MTO1","NAGS","NDUFA13","NDUFB10","NDUFC2","NDUFS4","NFS1","NGLY1","PC","PDHA1","PDHX","PDP1","POLG","PRDX1","RRM2B","SCO1","SERAC1","SLC25A13","SLC25A4","SLC7A7","TARS2","TMEM126B","TMEM70","TRMT10C","TYMP","UQCRC2","VARS2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CIRCULATING_NON_PROTEINOGENIC_AMINO_ACID_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M41581","pmid":"","exactSource":"HP:0033109","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0033109","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_NON_PROTEINOGENIC_AMINO_ACID_CONCENTRATION","geneSymbols":["AASS","ADK","ALDH18A1","ALDH5A1","APP","ASS1","ATP5F1A","CA5A","CPS1","DMGDH","MPO","MRM2","MT-ATP6","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND5","MT-ND6","MT-TK","MT-TL1","MT-TV","MT-TW","NOS3","OAT","OTC","PCK1","PLAU","SLC25A13","SLC25A15","SLC7A7","UPB1","USP53"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_RIGHT_VENTRICULAR_FUNCTION":{"collection":"C5:HPO","systematicName":"M41582","pmid":"","exactSource":"HP:0033118","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0033118","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RIGHT_VENTRICULAR_FUNCTION","geneSymbols":["ACTC1","ATP13A3","ATRX","BMPR2","CITED2","DAXX","DVL1","EIF2AK4","GATA4","GATA6","MYH6","MYH7","NKX2-5","ROR2","SDHD","SELENON","SLC34A2","TBX20","TLL1","TTN","WNT5A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DELAYED_ABILITY_TO_CRAWL":{"collection":"C5:HPO","systematicName":"M46330","pmid":"","exactSource":"HP:0033128","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0033128","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DELAYED_ABILITY_TO_CRAWL","geneSymbols":["CELF2","CTNNB1","HIVEP2","MDH2","MRPS25","PGAP1","RBL2","SON"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_SHOULDER_PHYSIOLOGY":{"collection":"C5:HPO","systematicName":"M41583","pmid":"","exactSource":"HP:0033129","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0033129","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SHOULDER_PHYSIOLOGY","geneSymbols":["COMP","ECEL1","FBN1","GNE","GNPTAB","HGD","LMNA","PKDCC","RECQL4","SGCA","TPM2","TRAPPC2","ZC4H2","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_RENAL_ECHOGENICITY":{"collection":"C5:HPO","systematicName":"M41584","pmid":"","exactSource":"HP:0033130","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0033130","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RENAL_ECHOGENICITY","geneSymbols":["ACTN4","BICC1","CC2D2A","CILK1","COG6","CRB2","CSPP1","DAAM2","DCDC2","DZIP1L","FOCAD","IFT43","INVS","KIAA0586","KIF14","LAMB2","MYH11","MYOCD","NSD2","PBX1","PDCD6IP","PIGY","PKHD1","REN","RNU7-1","ROBO1","SARS2","SLC22A12","SLC30A9","TBX18","TCTN2","TMEM67","TTC26","TULP3","XPNPEP3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_PULMONARY_ALVEOLAR_SYSTEM_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M47293","pmid":"","exactSource":"HP:0033137","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0033137","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PULMONARY_ALVEOLAR_SYSTEM_MORPHOLOGY","geneSymbols":["FOXF1","GUF1","SFTPC","SLC34A2","STRA6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LONG_NASAL_BRIDGE":{"collection":"C5:HPO","systematicName":"M46331","pmid":"","exactSource":"HP:0033142","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0033142","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LONG_NASAL_BRIDGE","geneSymbols":["BPTF","MYH3","PSMC1","SEPTIN9","TPM2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CIRCULATING_CERULOPLASMIN_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M41585","pmid":"","exactSource":"HP:0033144","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0033144","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_CERULOPLASMIN_CONCENTRATION","geneSymbols":["AP1B1","AP1S1","ATP7A","ATP7B","CCDC115","COG2","CP","FTH1","SLC31A1","SLC33A1","TMEM199"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INTRAHEPATIC_BILE_DUCT_DILATATION":{"collection":"C5:HPO","systematicName":"M46332","pmid":"","exactSource":"HP:0033149","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0033149","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTRAHEPATIC_BILE_DUCT_DILATATION","geneSymbols":["KIF3B","MED12","TMEM67","TTC26","WDR19"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NECROTIZING_ENTEROCOLITIS":{"collection":"C5:HPO","systematicName":"M46333","pmid":"","exactSource":"HP:0033165","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0033165","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NECROTIZING_ENTEROCOLITIS","geneSymbols":["ACADVL","DEF6","FCN3","FH","MYH11","PIGY"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PORTAL_INFLAMMATION":{"collection":"C5:HPO","systematicName":"M46334","pmid":"","exactSource":"HP:0033196","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0033196","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PORTAL_INFLAMMATION","geneSymbols":["ABCB4","FADD","FOCAD","MED12","SLC25A13"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DECREASED_CD4_CD8_RATIO":{"collection":"C5:HPO","systematicName":"M41587","pmid":"","exactSource":"HP:0033222","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0033222","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_CD4_CD8_RATIO","geneSymbols":["AP3B1","CASP8","CTPS1","DEF6","GATA2","IL2RA","IL2RB","MAGT1","UNC119","WAS"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_GLOMERULAR_MESANGIAL_CELLULARITY":{"collection":"C5:HPO","systematicName":"M46335","pmid":"","exactSource":"HP:0033231","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0033231","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_GLOMERULAR_MESANGIAL_CELLULARITY","geneSymbols":["APOE","CFHR5","COPA","KIRREL1","SGPL1","SPRY2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PALMAR_HYPERLINEARITY":{"collection":"C5:HPO","systematicName":"M46336","pmid":"","exactSource":"HP:0033252","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0033252","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PALMAR_HYPERLINEARITY","geneSymbols":["ALOX12B","ALOXE3","CERS3","CYP4F22","FLG","KDF1","STS"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SUDDEN_UNEXPECTED_DEATH_IN_EPILEPSY":{"collection":"C5:HPO","systematicName":"M46337","pmid":"","exactSource":"HP:0033258","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0033258","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUDDEN_UNEXPECTED_DEATH_IN_EPILEPSY","geneSymbols":["CPLX1","FIG4","GUF1","SCN1A","SCN8A","SHQ1","TBC1D24","UBR7"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NON_MOTOR_SEIZURE":{"collection":"C5:HPO","systematicName":"M41588","pmid":"","exactSource":"HP:0033259","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0033259","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NON_MOTOR_SEIZURE","geneSymbols":["ADGRG1","ADGRV1","ADNP","ADPRS","AFF3","ALDH4A1","ALDH5A1","ALDH7A1","ALMS1","AP2M1","APC2","ARX","ASAH1","ATAD3A","ATP1A2","ATP1A3","CACNA1A","CACNA1H","CACNA2D1","CACNB4","CAMK2A","CASK","CDK13","CDKL5","CEP85L","CHD2","CIC","CILK1","CLCN2","CLCN4","CLPB","CNTN2","COL3A1","CSTB","CUX2","DEPDC5","DHDDS","DHFR","DMXL2","DNM1","DOCK7","DPM1","DPM3","DYRK1A","ECM1","EEF1A2","EFHC1","EHMT1","EPM2A","EZH2","FAR1","FBXO28","FRRS1L","FZR1","GABRA1","GABRA3","GABRB3","GABRD","GABRG2","GAL","GATAD2B","GDI1","GJA5","GJA8","GLI3","GLUD1","GNAI1","GNAO1","GNB1","GOSR2","GPAA1","GPT2","GRIN1","GRIN2A","GRM7","HCN1","HNRNPK","HNRNPU","JRK","KCNA1","KCNB1","KCNC2","KCNMA1","KCNQ2","KCNQ3","KCNT1","KCNT2","KIF4A","KPTN","LAMA2","LGI1","MAPK10","MAST3","MECP2","MEGF8","MICAL1","MTHFR","MTHFS","MYT1L","NADK2","NBEA","NEDD4L","NEUROD2","NEXMIF","NFKB2","NGLY1","NHLRC1","NPRL2","NPRL3","NSD1","NTRK2","NUBPL","NUS1","PACS1","PAFAH1B1","PAK3","PCDH19","PDE2A","PGAP1","PGAP2","PHGDH","PI4KA","PIGA","PIGM","PIGP","PIGQ","PIGT","PLCB1","PLPBP","PNKP","PPP2CA","PPP3CA","PRMT7","PRRT2","PTEN","RELN","RFX7","RNU4ATAC","RORB","SATB1","SATB2","SCN1A","SCN1B","SCN2A","SCN8A","SCN9A","SETD1B","SETD2","SIK1","SLC12A5","SLC25A22","SLC2A1","SLC32A1","SLC35A3","SLC38A3","SLC6A1","SMARCA2","SMO","SMPD1","SON","SPATA5","SPATA5L1","SRPX2","STX1B","SYNGAP1","SZT2","TBC1D24","TREX1","TRIM8","TRMT10A","TRPM3","TUBA1A","TUBB2B","TUBB3","UBE3A","WAC","WDR26","YWHAG","ZBTB18","ZEB2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ELEVATED_URINARY_MONOCARBOXYLIC_ACID_LEVEL":{"collection":"C5:HPO","systematicName":"M43542","pmid":"","exactSource":"HP:0033303","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0033303","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELEVATED_URINARY_MONOCARBOXYLIC_ACID_LEVEL","geneSymbols":["ACADM","ALDH5A1","ALDH6A1","CA5A","HGD","NDUFB10","OXCT1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ACUTE_PHASE_RESPONSE":{"collection":"C5:HPO","systematicName":"M41590","pmid":"","exactSource":"HP:0033331","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0033331","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACUTE_PHASE_RESPONSE","geneSymbols":["ADA2","ADORA2A","AIRE","ANKRD55","AP1S3","ARPC1B","BCS1L","BMP2","BMP6","C1QB","C2orf69","CARD10","CASP10","CASR","CD244","CD247","CDC73","CDKN1A","CDKN1B","CDKN2B","CDKN2C","CFTR","CIITA","CLDN16","CLDN19","COPA","CP","CPA1","CPOX","CTLA4","CTRC","CYP24A1","CYP27B1","CYP2R1","CYP3A4","DEF6","DLST","ELF4","FAM20A","FH","FOCAD","FTH1","FTL","GCM2","GLRX5","GNAS","GNAS-AS1","HAMP","HAVCR2","HBB","HFE","HJV","HLA-B","HLA-DPA1","HLA-DPB1","HLA-DRB1","HMOX1","IFIH1","IFNG","IFNGR1","IL10","IL1R1","IL1RN","IL2RA","IL2RB","IL36RN","IL37","IL6","IL6ST","IRAK1","ITGB2","ITK","KARS1","KCNN4","KIF1B","KL","LACC1","LBR","LPIN2","LYST","MAX","MCM10","MDH2","MEFV","MEN1","MIF","MVK","MYD88","NCF4","NF1","NFKBIL1","NLRC4","NLRP1","NLRP12","NLRP3","NOD2","OCRL","OTULIN","P4HA2","PDE4D","PHEX","PIEZO1","PIK3CG","PKLR","POMP","PRF1","PRKAR1A","PRKCD","PRSS1","PRSS2","PRTN3","PSMB10","PSMB4","PSMB8","PSMB9","PSMG2","PSTPIP1","PTH","PTPN2","PTPN22","PUS1","RET","RNU4ATAC","SAT1","SDHA","SDHAF2","SDHB","SDHC","SDHD","SH2D1A","SLC19A1","SLC22A4","SLC25A11","SLC25A38","SLC29A3","SLC34A1","SLC34A3","SLC40A1","SLC4A1","SLC7A7","SOST","SPINK1","SPP1","STAT2","STAT4","STEAP3","STING1","STX11","STX16","STXBP2","SYK","TBCE","TBK1","TBX1","TFR2","TGFB1","TICAM1","TLR3","TMEM127","TMPRSS6","TNFRSF1A","TRAF3","TREX1","TRPV6","TTC26","UBA1","UNC13D","UNC93B1","VDR","VHL","XIAP","ZNFX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_PREIMPLANTATION_EMBRYONIC_DEVELOPMENT":{"collection":"C5:HPO","systematicName":"M47294","pmid":"","exactSource":"HP:0033335","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0033335","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PREIMPLANTATION_EMBRYONIC_DEVELOPMENT","geneSymbols":["BTG4","FBXO43","IQCN","REC114","TRIP13","ZFP36L2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_FEMALE_MEIOSIS":{"collection":"C5:HPO","systematicName":"M47295","pmid":"","exactSource":"HP:0033338","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0033338","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FEMALE_MEIOSIS","geneSymbols":["CDC20","PANX1","PATL2","TRIP13","TUBB8","WEE2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NEURALGIA":{"collection":"C5:HPO","systematicName":"M41591","pmid":"","exactSource":"HP:0033345","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0033345","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEURALGIA","geneSymbols":["AKT1","BAP1","NF2","PDGFB","PIK3CA","PRNP","SH3TC2","SMARCB1","SMARCE1","SMO","SUFU","TERT","TRAF7"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PSYCHIC_EPILEPTIC_AURA":{"collection":"C5:HPO","systematicName":"M43543","pmid":"","exactSource":"HP:0033346","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0033346","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PSYCHIC_EPILEPTIC_AURA","geneSymbols":["DEPDC5","GAL","LGI1","MICAL1","NPRL2","NPRL3","PDE2A","PRRT2","RELN","SCN8A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_EPILEPTIC_AURA":{"collection":"C5:HPO","systematicName":"M41592","pmid":"","exactSource":"HP:0033348","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0033348","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EPILEPTIC_AURA","geneSymbols":["ADGRG1","ATP1A2","CACNA1A","CNTN2","DEPDC5","EPM2A","GAL","KCNA1","LGI1","MICAL1","NHLRC1","NPRL2","NPRL3","PCDH19","PDE2A","PI4KA","PRRT2","RELN","SCN1A","SCN8A","SRPX2","TREX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_BLOOD_VESSEL_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M47296","pmid":"","exactSource":"HP:0033353","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0033353","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BLOOD_VESSEL_MORPHOLOGY","geneSymbols":["AASS","ABCA1","ABCC6","ABCC9","ABCD4","ABCG5","ABCG8","ABL1","ACP5","ACSL4","ACTA2","ACTB","ACVR2B","ACVRL1","ADA2","ADAMTS10","ADAMTS19","ADAMTS3","ADAMTSL1","ADAR","ADAT3","ADH5","ADK","AEBP1","AFF4","AGGF1","AGO2","AGPAT2","AGXT","AKT1","ALB","ALDH18A1","ALDH1A2","ALG12","ALG3","ALG5","ALG8","ALG9","ALMS1","ALX1","ALX3","ALX4","AMER1","AMMECR1","ANAPC7","ANGPT2","ANGPTL6","ANK1","ANKS6","ANTXR1","APC2","APOA1","APOA2","APOA5","APOB","APOE","APP","ARF1","ARFGEF2","ARHGAP31","ARID1A","ARID1B","ARID2","ARL6IP6","ARPC1B","ARSL","ARVCF","ARX","ASAH1","ASCC1","ASXL2","ATN1","ATP2B1","ATP6V0A2","ATP6V1A","ATP6V1B2","ATP6V1E1","ATP7A","B3GALT6","B3GAT3","B3GLCT","BANF1","BAP1","BAZ1B","BCL11B","BCL7B","BCOR","BCR","BEST1","BGN","BICC1","BICRA","BMP2","BMPR1A","BMPR2","BPTF","BRAF","BRCA1","BRCA2","BRCC3","BRF1","BRIP1","BSCL2","BUB1","BUB1B","BUB3","BUD23","C12orf57","C1QB","C1R","C1S","C2CD3","C4A","CACNA1C","CADM3","CALM3","CARS1","CASP10","CASZ1","CAT","CAV1","CAVIN1","CBL","CBS","CCBE1","CCDC103","CCDC22","CCDC39","CCDC40","CCDC47","CCDC65","CCM2","CCNO","CCNQ","CCR1","CD19","CD244","CD81","CD96","CDC42","CDC42BPB","CDH2","CDK8","CDON","CELA2A","CEP120","CEP19","CEP57","CETP","CFAP221","CFAP298","CFAP300","CFAP53","CFAP74","CFC1","CFI","CHD4","CHD7","CHRM3","CHRNG","CHST3","CHUK","CIITA","CIROP","CITED2","CLCN7","CLCNKB","CLIP2","CNTN1","COA6","COG4","COG6","COL18A1","COL1A1","COL1A2","COL3A1","COL4A1","COL5A1","COL5A2","COMT","COQ4","COX7B","CPLANE1","CR2","CRB2","CREBBP","CRELD1","CRKL","CRTAP","CSF2RA","CSF2RB","CSGALNACT1","CTCF","CTLA4","CTSA","CTU2","CUX1","CWC27","CXCR2","CXCR4","CYP1B1","CYP27A1","CYP7A1","DACT1","DARS1","DCDC2","DDX11","DDX3X","DDX59","DDX6","DGCR2","DGCR6","DGCR8","DHCR24","DHCR7","DIS3L2","DISP1","DLK1","DLL1","DLL3","DLL4","DMPK","DNAAF1","DNAAF11","DNAAF2","DNAAF3","DNAAF4","DNAAF5","DNAAF6","DNAH1","DNAH11","DNAH5","DNAH9","DNAI1","DNAI2","DNAJB11","DNAJB13","DNAJC30","DNAL1","DNASE1L3","DNMT3A","DOCK6","DOCK8","DOHH","DPF2","DPH5","DPM1","DPYSL5","DRC1","DTNA","DVL3","DYNC2LI1","DYRK1A","DYRK1B","ECE1","EED","EFEMP1","EFEMP2","EGFR","EHMT1","EIF2AK3","EIF2AK4","EIF4H","ELN","EMILIN1","ENG","ENPP1","EOGT","EP300","EPHB4","EPHX2","ERAP1","ERCC2","ERCC3","ERCC4","ERCC5","ERCC6","ERCC8","ERMARD","ESCO2","ESR1","ESS2","EXT1","EXT2","EZH2","F12","FADD","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FARSB","FAS","FASLG","FAT4","FBLN5","FBN1","FBN2","FGF10","FGF8","FGFR1","FGFR2","FGFR3","FIBP","FIG4","FKBP14","FKBP6","FKTN","FLI1","FLNA","FLNB","FLT4","FMR1","FOCAD","FOS","FOXC1","FOXC2","FOXE3","FOXF1","FOXH1","FOXJ1","FOXP2","FRA10AC1","FTO","FUCA1","FUT8","FZD4","G6PC3","GAA","GABRD","GALC","GALNT3","GANAB","GAS1","GAS2L2","GAS8","GATA1","GATA4","GATA5","GATA6","GBA1","GDF1","GDF2","GEMIN4","GGCX","GHR","GJA1","GJA5","GJA8","GJC2","GLB1","GLI2","GLI3","GLMN","GLYCTK","GM2A","GMPPB","GNA11","GNAQ","GNB2","GNPAT","GP1BB","GPC3","GPC4","GPC6","GPIHBP1","GPR35","GTF2I","GTF2IRD1","GTF2IRD2","GUCY1A1","GUSB","HACD1","HCCS","HCK","HDAC4","HEATR3","HES7","HEXA","HEXB","HEY2","HGD","HIBCH","HIRA","HLA-B","HLA-DPA1","HLA-DPB1","HLA-DRB1","HNRNPK","HOXA1","HPGD","HRAS","HSPG2","HTRA1","HTRA2","HYDIN","HYMAI","HYOU1","ICOS","IDH1","IDS","IFIH1","IFNG","IFNGR1","IFT140","IFT27","IFT43","IGBP1","IGF2","IGFBP7","IL10","IL12A","IL12A-AS1","IL12B","IL12RB1","IL23R","IL6","IL6ST","INTU","IPO8","IRF2BP2","ITPR1","JAG1","JAK2","JMJD1C","KANSL1","KAT6A","KAT6B","KAT8","KCNAB2","KCNE5","KCNH1","KCNJ8","KCNN3","KCNQ2","KCNT1","KDM3B","KDM6A","KDR","KIF5A","KLRC4","KMT2A","KMT2B","KMT2D","KNSTRN","KRAS","KRIT1","KYNU","LARS2","LCAT","LDLR","LDLRAP1","LEMD2","LFNG","LIFR","LIMK1","LIPA","LIPC","LMBRD1","LMNA","LMX1B","LOX","LPL","LRP5","LRP6","LRPPRC","LRRC56","LSM11","LTBP1","LTBP4","LUZP1","LZTR1","MAD2L2","MAF","MAP1B","MAP2K1","MAP3K7","MAPK1","MAPKAPK5","MASP1","MAT2A","MAX","MCIDAS","MCTP2","MED11","MED12","MED13L","MED25","MEF2A","MEFV","MEG3","MEGF8","MEIS2","MESP2","METTL27","MFAP5","MGAT2","MGP","MID1","MKKS","MKS1","MLX","MLXIPL","MMP14","MMP2","MMP21","MMP23B","MNX1","MPL","MRAS","MRPS16","MS4A1","MST1","MSX2","MT-ATP6","MT-CO3","MT-CYB","MT-ND1","MT-ND2","MT-ND4","MT-ND4L","MT-ND5","MT-ND6","MVK","MYCN","MYD88","MYH11","MYH3","MYH7","MYLK","MYOC","MYOCD","MYPN","MYRF","NAA10","NAA20","NADSYN1","NAE1","NCAPG2","NCF1","NDE1","NDP","NDUFB11","NEDD4L","NEK1","NEK10","NEK8","NEK9","NEU1","NF1","NFIA","NFIX","NFKB1","NFKB2","NFKBIL1","NIPA1","NIPA2","NKAP","NKX2-5","NKX2-6","NLRP3","NME5","NME8","NOD2","NODAL","NONO","NOTCH1","NOTCH2","NOTCH3","NPC1","NPC2","NPHP3","NPPA","NPR3","NR2F2","NRAS","NSD1","NSMCE2","NT5E","NXN","OCLN","ODAD1","ODAD2","ODAD3","ODAD4","OFD1","OSGEP","OTUD5","OTULIN","P4HA2","PACS1","PAH","PAK2","PALB2","PAM16","PBX1","PCGF2","PCNT","PCSK9","PDCD10","PDE11A","PDGFB","PDGFRB","PDPN","PEX1","PEX12","PEX19","PGM1","PGM3","PHGDH","PIEZO1","PIGA","PIGL","PIGN","PIGO","PIGT","PIK3CA","PIK3CD","PIK3CG","PIK3R1","PIK3R2","PKD1","PKD1L1","PKD2","PKP2","PLAGL1","PLCB1","PLCB3","PLCH1","PLD1","PLOD1","PLOD3","PLXND1","PNP","PNPLA2","POGZ","POLA1","POLR1A","POLR1B","POLR1C","POLR1D","POLR3A","POLR3F","PORCN","POU3F4","PPARG","PPFIBP1","PPP1CB","PPP1R15B","PPP1R17","PPP2R1A","PQBP1","PRDM13","PRDM16","PRDM6","PRIM1","PRKACB","PRKAR1A","PRKCD","PRKCSH","PRKCZ","PRKG1","PROC","PROS1","PRPF3","PRTN3","PSAP","PSMD12","PTCH1","PTDSS1","PTEN","PTH1R","PTPN11","PTPN22","PUF60","PYCR1","QRICH1","RAB23","RAC1","RAD21","RAD51","RAD51C","RAF1","RAI1","RASA1","RASA2","RASGRP1","RBM10","RBM8A","RBP4","RBPJ","RERE","RET","RFC2","RFWD3","RIN2","RIPPLY2","RIT1","RNASEH2A","RNASEH2B","RNASEH2C","RNF213","RNU4ATAC","RNU7-1","ROBO1","ROBO4","ROR2","RPGR","RPL10","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS7","RRAS","RRAS2","RREB1","RSPH1","RSPH3","RSPH4A","RSPH9","RSPO2","RSPRY1","RTL1","SALL1","SALL4","SAMD9","SAMHD1","SC5D","SCN10A","SCN11A","SCN1A","SCN2A","SCN9A","SDHB","SDHD","SEC24C","SEC61A1","SEC63","SELENOI","SEMA3E","SEMA4D","SERPIND1","SETD2","SF3B2","SF3B4","SFTPB","SH2D1A","SH3PXD2B","SHANK3","SHH","SIK3","SIX3","SIX6","SKI","SKIC2","SKIC3","SLC12A3","SLC12A5","SLC20A2","SLC22A4","SLC25A22","SLC25A24","SLC29A3","SLC2A10","SLC34A2","SLC35A2","SLC37A4","SLC39A13","SLX4","SMAD2","SMAD3","SMAD4","SMAD6","SMARCA2","SMARCA4","SMARCAL1","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SMC1A","SMC3","SMC5","SMG8","SMG9","SMOC1","SMPD1","SNRPB","SNRPN","SNX10","SNX14","SON","SOS1","SOS2","SOX10","SOX11","SOX2","SOX4","SPAG1","SPECC1L","SPEF2","SPEN","SPRED2","SPTBN1","SRCAP","SRY","SSR4","STAG2","STAT1","STAT3","STAT4","STIL","STK36","STRA6","STX1A","STXBP1","SUCLG1","SUFU","SUPT16H","SYK","TAB2","TALDO1","TAOK1","TBC1D24","TBL2","TBX1","TBX2","TBX20","TBX4","TBX5","TCF4","TCIRG1","TCOF1","TDGF1","TEK","TELO2","TFAP2B","TGDS","TGFB2","TGFB3","TGFBR1","TGFBR2","TGFBR3","TGIF1","THOC6","THPO","THSD1","THSD4","TKT","TLL1","TLR4","TMCO1","TMEM127","TMEM231","TMEM260","TMEM270","TMEM67","TMEM94","TMTC3","TNFRSF13B","TNFRSF13C","TNFRSF1A","TNFSF11","TNFSF12","TNNT2","TNXB","TOM1","TONSL","TP63","TPM2","TPM3","TRAF7","TRAIP","TREX1","TRIO","TRIP11","TRIP13","TRIP4","TRPV6","TRRAP","TSC1","TSC2","TSFM","TSR2","TTC12","TTC26","TUBG1","TULP1","TWIST1","UBA1","UBAC2","UBE2A","UBE2T","UBE3B","UBE4B","UBR1","UBR7","UFC1","UFD1","UMPS","UNC45B","UQCRFS1","USP18","USP9X","VAC14","VEGFC","VHL","VPS33A","VPS35L","VPS37D","WAC","WAS","WASHC5","WDPCP","WDR19","WDR26","WDR35","WDR37","WIPF1","WLS","WNT4","WRN","WT1","XIAP","XRCC2","XYLT1","XYLT2","YME1L1","YY1","YY1AP1","ZBTB7A","ZEB2","ZFPM2","ZIC2","ZIC3","ZMIZ1","ZMPSTE24","ZMYM2","ZMYND10","ZNF148","ZNF462","ZNF687","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_URINE_METABOLITE_LEVEL":{"collection":"C5:HPO","systematicName":"M41593","pmid":"","exactSource":"HP:0033354","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0033354","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_URINE_METABOLITE_LEVEL","geneSymbols":["AASS","ABCC8","ABCD4","ACAD8","ACAD9","ACADM","ACADS","ACADSB","ACADVL","ACAT1","ACP5","ACSF3","ACSL4","ACTN4","ACVR1B","ADAMTS13","AGA","AGK","AGXT2","ALAD","ALDH4A1","ALDH5A1","ALDH6A1","ALDOA","ALDOB","ALG5","ALG9","ALK","ALPL","AMMECR1","AMN","AMT","ANKFY1","ANLN","ANO5","APC","APOA1","APOE","APOL1","APPL1","APRT","ARG1","ARHGAP24","ARHGDIA","ARSB","ARSK","ASL","ASPA","ASPH","ASS1","ATAD3A","ATIC","ATP5F1A","ATP5F1D","ATP5F1E","ATP5MK","ATP6V1B2","ATP7B","ATPAF1","ATPAF2","AUH","B2M","BANK1","BAZ1B","BCKDHA","BCKDHB","BCL7B","BCS1L","BICC1","BLK","BSND","BUD23","C3","C4A","C4B","CA5A","CACNA1S","CAD","CAMKMT","CASK","CASP10","CASR","CBS","CCND1","CD2AP","CD320","CD46","CD59","CD81","CEL","CFB","CFH","CFI","CHUK","CLCN5","CLCNKA","CLCNKB","CLDN16","CLIP2","CLPB","CLTRN","COA8","COL2A1","COL4A3","COL4A4","COL4A5","COL4A6","COQ2","COQ6","COQ8B","CORIN","COX14","COX16","CPOX","CPS1","CPT1A","CPT2","CR2","CRB2","CRPPA","CTH","CTLA4","CTNS","CUBN","CYC1","CYP27B1","CYP2R1","D2HGDH","DAAM2","DBH","DBT","DCXR","DDB2","DDOST","DGKE","DGUOK","DHTKD1","DLD","DLST","DMD","DMGDH","DNAJB11","DNAJC19","DNAJC30","DNASE1","DNASE1L3","DNASE2","DNMT3A","DPH1","DPYD","DPYS","EHHADH","EIF4H","ELN","EMP2","EPAS1","ERBB2","ERCC2","ERCC3","ERCC4","ERCC5","ERCC6","ERCC8","ETFA","ETFB","ETFDH","ETHE1","ETS1","EXT2","FAH","FAN1","FARS2","FBP1","FCGR2B","FCGR3B","FDX2","FGA","FGFR2","FH","FKBP6","FKRP","FLT1","FMO3","FN1","FOCAD","FOXC2","FOXP2","FTCD","FUCA1","G6PC1","G6PD","GAA","GALE","GALK1","GALNS","GALT","GANAB","GAPVD1","GATA1","GATA3","GATA6","GATM","GBA1","GCDH","GCK","GCLC","GEMIN4","GGT1","GK","GLA","GLB1","GLDC","GLUD1","GLYCTK","GNE","GNPTAB","GNPTG","GNS","GON7","GPHN","GSN","GSS","GTF2I","GTF2IRD1","GTF2IRD2","GUCY2D","GUSB","GYS2","HACE1","HADH","HADHA","HADHB","HAL","HCFC1","HELLPAR","HGD","HGSNAT","HIBCH","HLA-DPA1","HLA-DPB1","HLA-DRB1","HLCS","HMBS","HMGCL","HMOX1","HNF1A","HNF1B","HNF4A","HPD","HPRT1","HSD17B10","HSPD1","HTRA2","IBA57","IDH1","IDH2","IDS","IDUA","IER3IP1","IFT140","IFT172","IGHG1","IL10","IL1B","IL1RN","INF2","INS","IRAK1","IRF1","IRF5","ISCU","ITGA3","ITGA8","ITGAM","IVD","JAZF1","KANK2","KARS1","KCNE5","KCNJ1","KCNJ11","KHK","KIAA0319L","KIF1B","KIF23","KIRREL1","KLF11","KLF6","KRAS","KRT18","KYNU","L2HGDH","LAGE3","LAMB2","LCAT","LDHA","LETM1","LIMK1","LIN28B","LIPT1","LMBRD1","LMNA","LMNB2","LMO1","LMX1B","LPIN1","LPIN2","LRP2","LRPPRC","LYZ","MAF","MAFB","MAGI2","MAN2B1","MANBA","MARS1","MAX","MCCC1","MCCC2","MCEE","MDH2","MECP2","MED12","MEFV","METTL27","MIA3","MICOS13","MLIP","MLXIPL","MLYCD","MMAA","MMAB","MMACHC","MMADHC","MMUT","MOCOS","MOCS1","MOCS2","MT-ATP6","MT-ATP8","MT-CO1","MT-CO2","MT-CO3","MT-ND1","MT-ND4","MT-ND5","MT-ND6","MT-TE","MT-TF","MT-TH","MT-TK","MT-TL1","MT-TN","MT-TQ","MT-TS1","MT-TS2","MT-TW","MTHFR","MTR","MTRR","MTX2","MUTYH","MVK","MYCN","MYH9","MYO1E","NADK2","NAGA","NAGLU","NCF1","NDUFAF6","NDUFB10","NDUFS4","NEU1","NEUROD1","NF1","NFS1","NFU1","NGLY1","NIPBL","NOS1AP","NOS3","NOTCH2","NPHP3","NPHS1","NPHS2","NPR2","NSMCE2","NT5C3A","NUP107","NUP133","NUP160","NUP205","NUP37","NUP85","NUP93","OAT","OBSCN","OCRL","OFD1","OGDH","OPA3","OPLAH","OSGEP","OTC","OXCT1","OXGR1","PAH","PAX2","PAX4","PBX1","PCBD1","PCCA","PCCB","PCK1","PDCD1","PDSS2","PDX1","PEPD","PET100","PEX1","PEX14","PEX5","PFKM","PGAM2","PGK1","PHKA1","PHKA2","PHKB","PHKG2","PHOX2B","PHYKPL","PIEZO1","PIGA","PIGB","PIGT","PIK3C2A","PIK3CA","PKD1","PKD2","PLCE1","PLOD1","PLOD2","PMM2","PNP","POLG","PPM1B","PPOX","PRDX1","PREPL","PRODH","PRPS1","PRTN3","PSTPIP1","PTPN22","PTPRO","PUS3","PXK","PYGL","PYGM","REN","RET","RFC2","RMRP","RNU7-1","RPIA","RRM2B","RYR1","SAA1","SARDH","SARS2","SAT1","SCARB2","SCO1","SDHA","SDHAF2","SDHB","SDHC","SDHD","SERAC1","SFXN4","SGCB","SGPL1","SGSH","SH2B1","SHPK","SKIC3","SLC12A1","SLC12A3","SLC13A3","SLC16A1","SLC16A12","SLC18A2","SLC19A2","SLC1A1","SLC22A12","SLC22A5","SLC25A1","SLC25A11","SLC25A13","SLC25A15","SLC25A20","SLC26A1","SLC28A1","SLC2A2","SLC2A9","SLC34A1","SLC35A1","SLC36A2","SLC37A4","SLC3A1","SLC52A1","SLC5A1","SLC5A2","SLC6A18","SLC6A19","SLC6A2","SLC6A20","SLC7A7","SLC7A9","SLCO1B1","SLCO1B3","SLCO2A1","SMAD4","SMARCAL1","SNAP29","SNX14","SPINK5","SPP1","SPRY2","STAT2","STAT3","STAT4","STK11","STOX1","STX1A","SUCLA2","SUCLG1","SUGCT","SUMF1","SUOX","SURF1","TAFAZZIN","TANGO2","TAT","TBC1D24","TBC1D8B","TBL2","TCN2","TDO2","TFAM","THBD","TIMM50","TK2","TKT","TLR7","TMEM127","TMEM270","TMEM70","TNFAIP3","TNFRSF11A","TNFRSF11B","TNFSF4","TNIP1","TOP2A","TP53","TP53RK","TPK1","TPRKB","TREX1","TRIM8","TRMT5","TRMU","TRNT1","TRPC6","TRPV4","TRPV6","UBE2L3","UMPS","UNC45A","UQCRB","UROC1","UROD","UROS","VHL","VIPAS39","VPS33A","VPS33B","VPS37D","VPS50","WDR19","WDR4","WDR73","WT1","XDH","XPA","XPC","YRDC","ZAP70"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_URINE_OSMOLALITY":{"collection":"C5:HPO","systematicName":"M41594","pmid":"","exactSource":"HP:0033358","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0033358","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_URINE_OSMOLALITY","geneSymbols":["AQP2","ARNT2","AVPR2","CLCN5","KCNJ1","NPHP1","SLC12A1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BILATERAL_SUPERIOR_VENA_CAVA":{"collection":"C5:HPO","systematicName":"M46338","pmid":"","exactSource":"HP:0033379","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0033379","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BILATERAL_SUPERIOR_VENA_CAVA","geneSymbols":["ACVR2B","CFC1","CIROP","FADD","LRPPRC","MED25","NCAPG2","PRKACB","SLC29A3","SMAD2","ZIC3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DECREASED_COMPOUND_MUSCLE_ACTION_POTENTIAL_AMPLITUDE":{"collection":"C5:HPO","systematicName":"M46339","pmid":"","exactSource":"HP:0033383","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0033383","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_COMPOUND_MUSCLE_ACTION_POTENTIAL_AMPLITUDE","geneSymbols":["ALS2","BSCL2","CADM3","DNAJB6","EMILIN1","KARS1","PMP2","RAB7A","SETX","SIGMAR1","SYT2","UBA1","UQCRC1","VAMP1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_IRREGULARLY_SHAPED_SPERM_TAIL":{"collection":"C5:HPO","systematicName":"M45500","pmid":"","exactSource":"HP:0033393","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0033393","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IRREGULARLY_SHAPED_SPERM_TAIL","geneSymbols":["CCDC34","CFAP251","CFAP47","CFAP91","DNAH1","DNAH10","DNAH8","DNHD1","FSIP2","IFT74","SSX1","TTC21A","WDR19"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NEUROINFLAMMATION":{"collection":"C5:HPO","systematicName":"M41596","pmid":"","exactSource":"HP:0033429","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0033429","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEUROINFLAMMATION","geneSymbols":["C4A","CCR1","CTLA4","ERAP1","FAS","HLA-B","IFNGR1","IKBKG","IL10","IL12A","IL12A-AS1","IL23R","KLRC4","MEFV","NLRP3","NOD2","POLG","PRORP","STAT4","TK2","TLR4","TLR7","UBAC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_TUBE_FEEDING":{"collection":"C5:HPO","systematicName":"M41597","pmid":"","exactSource":"HP:0033454","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0033454","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TUBE_FEEDING","geneSymbols":["AASS","ABCD1","ACSF3","ACTA1","ADNP","AFF4","ALG12","ALG2","ALS2","ANAPC1","ASPA","ASXL3","B3GALT6","BLM","BRAF","BSND","C2CD3","CAMLG","CARS2","CDC42BPB","CDON","CLCN6","CLCNKA","CLCNKB","CLN8","CLPB","CLTCL1","COG5","COL2A1","COL4A5","COL4A6","COL7A1","COX8A","CREBBP","CTCF","DALRD3","DCHS1","DEGS1","DISP1","DLK1","DLL1","DNM1","DNM1L","DPM1","DPM2","DTYMK","DYRK1A","EDEM3","EN1","EP300","EPM2A","EPRS1","FAT4","FBP2","FDFT1","FGF8","FGFR1","FOXH1","FOXP2","FOXP3","FUS","GALC","GAS1","GFM2","GLI2","GNB2","GNPTAB","GNS","GPT2","GRIN1","GRM7","HACD1","HECW2","HERC2","HNRNPK","IDH1","ITCH","ITGA7","KANSL1","KCNK9","KCNQ5","KIAA0753","KLHL40","KNSTRN","KRT14","KRT5","LAMB2","LONP1","LRPPRC","MAGEL2","MAP3K20","MECP2","MEG3","MFF","MGAT2","MKRN3","MOGS","MPDU1","MT-TE","MTM1","MTRFR","MYL1","MYL2","MYO1H","NAA10","NACC1","NALCN","NHLRC1","NODAL","NONO","NPAP1","NRCAM","PACS1","PDE10A","PDHA1","PGAP1","PGAP2","PGAP3","PIGL","PIGO","PIGT","PIGU","PIGV","PIGW","PIGY","PIK3CD","PLCH1","PLP1","PNPT1","PPP2R1A","PRPS1","PSAP","PSAT1","PSMC1","PTCD3","PTCH1","PTPN23","PUF60","PWAR1","PWRN1","RALGAPA1","RAPSN","RECQL4","RNF13","RTL1","SATB2","SCN1A","SCN3A","SCN4A","SELENON","SEPSECS","SETBP1","SHH","SIGMAR1","SIM1","SIX3","SLC1A4","SLC35A2","SLC5A6","SMC1A","SNORD115-1","SNORD116-1","SNRPN","SON","SPATA5","SPG11","SPOP","SPTBN4","SPTLC1","SRCAP","STAG2","STIL","SYNE1","TBCK","TCEAL1","TDGF1","TFG","TGIF1","TOM1","TOR1A","TP63","TPM2","TPM3","TRAPPC12","TRIO","TRIP4","TRMU","TSEN15","TSEN2","TSEN34","TSEN54","TXN2","UBTF","UGDH","UNC80","VPS50","WAC","WDR26","YARS1","YY1","ZIC2","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_EXTRACTABLE_NUCLEAR_ANTIGEN_POSITIVITY":{"collection":"C5:HPO","systematicName":"M47297","pmid":"","exactSource":"HP:0033476","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0033476","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EXTRACTABLE_NUCLEAR_ANTIGEN_POSITIVITY","geneSymbols":["BANK1","BLK","C1QB","C4A","C4B","CR2","CTLA4","DNASE1","ETS1","FCGR2B","FCGR3B","HLA-DRB1","IGHG1","IL10","IRAK1","IRF5","ITGAM","JAZF1","KIAA0319L","MECP2","PDCD1","PTPN22","PXK","SOCS1","SPP1","STAT4","TLR7","TNFAIP3","TNFSF4","TNIP1","TREX1","UBE2L3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CIRCULATING_BILIRUBIN_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M41598","pmid":"","exactSource":"HP:0033479","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0033479","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_BILIRUBIN_CONCENTRATION","geneSymbols":["ABCB11","ABCB4","ABCC2","ABCD3","ADK","AKR1D1","ALDOA","ALDOB","AMACR","ANK1","ATP7B","ATP8B1","BAAT","CASK","CDAN1","CPOX","CPT2","CYP7B1","DCDC2","DGUOK","DUOX2","DUOXA2","EIF2AK3","EPB41","EPB42","FARSB","FBP1","FH","FOCAD","G6PD","GATA1","GLRX5","GPX1","GSR","GYPC","HBB","HK1","HSD3B7","IARS1","IGF1","IL12A","IL12RB1","IRF5","IYD","KCNN4","KIF12","KIF23","KLF1","KMT2D","LBR","LIPT1","LRP5","MED12","MMEL1","MTTP","MYO5B","NAA10","NHLRC2","NR1H4","ODC1","OSTM1","OTX2","PAFAH1B1","PAX8","PEX14","PEX19","PEX2","PFKM","PGK1","PIEZO1","PIGA","PKHD1","PKLR","PNPLA6","POLG2","POMC","POU2AF1","PRF1","PRKCSH","RACGAP1","RFX6","RHAG","RHCE","RHD","RNU4ATAC","ROBO1","SC5D","SEC63","SEMA7A","SLC10A1","SLC17A5","SLC19A1","SLC25A13","SLC2A1","SLC2A2","SLC30A10","SLC35A2","SLC4A1","SLC51A","SLC5A5","SLCO1B1","SLCO1B3","SPIB","SPTA1","SPTB","SPTBN1","TCEAL1","TFAM","TG","TMEM67","TNFSF15","TNPO3","TPO","TRMU","TSHB","TSHR","TTC26","UBE2A","UBR1","UGT1A1","UROS","VIPAS39","VPS33B","VPS50","WDR35","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LIVEDO_RETICULARIS":{"collection":"C5:HPO","systematicName":"M46340","pmid":"","exactSource":"HP:0033505","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0033505","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIVEDO_RETICULARIS","geneSymbols":["ACTA2","ADA2","GUCY1A1","MYH11","PDSS1","RECQL","STING1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CEREBRAL_CAVERNOUS_MALFORMATION":{"collection":"C5:HPO","systematicName":"M46341","pmid":"","exactSource":"HP:0033522","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0033522","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CEREBRAL_CAVERNOUS_MALFORMATION","geneSymbols":["ATP2B1","CCM2","KRIT1","PDCD10","PIK3CA"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_SPERM_AXONEME_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M46342","pmid":"","exactSource":"HP:0033524","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0033524","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SPERM_AXONEME_MORPHOLOGY","geneSymbols":["AK7","CATIP","CFAP91","FSIP2","QRICH2","SPEF2","USP26","WDR19"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BRONCHIAL_WALL_THICKENING":{"collection":"C5:HPO","systematicName":"M46344","pmid":"","exactSource":"HP:0033542","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0033542","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BRONCHIAL_WALL_THICKENING","geneSymbols":["ABCA3","AGR2","FNIP1","HYDIN","PAK2","SFTPC","TTC26"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_VENTRICULAR_AXIS":{"collection":"C5:HPO","systematicName":"M47298","pmid":"","exactSource":"HP:0033566","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0033566","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_VENTRICULAR_AXIS","geneSymbols":["GAA","MYH7","PLXND1","PRKAG2","TNNT2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_GLOMERULAR_SUBEPITHELIAL_DEPOSITS":{"collection":"C5:HPO","systematicName":"M46345","pmid":"","exactSource":"HP:0033603","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0033603","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GLOMERULAR_SUBEPITHELIAL_DEPOSITS","geneSymbols":["ARHGDIA","CD151","CEP83","CFH","COL4A3","COL4A4","COL4A5","DGKE","GATA3","LMX1B","NOS1AP","RNU7-1","WDR19"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BONE_MARROW_MATURATION_ARREST":{"collection":"C5:HPO","systematicName":"M46346","pmid":"","exactSource":"HP:0033606","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0033606","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BONE_MARROW_MATURATION_ARREST","geneSymbols":["CLPB","CSF3R","FLNA","JAGN1","SMARCD2","WAS"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INCREASED_CIRCULATING_VERY_LONG_CHAIN_FATTY_ACID_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M47299","pmid":"","exactSource":"HP:0033643","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0033643","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_CIRCULATING_VERY_LONG_CHAIN_FATTY_ACID_CONCENTRATION","geneSymbols":["ABCD1","AMACR","AP1S1","BCAP31","HSD17B4","PEX12","PEX14","PEX2","PEX6","REPS1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_JAW_HYPERREFLEXIA":{"collection":"C5:HPO","systematicName":"M47300","pmid":"","exactSource":"HP:0033683","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0033683","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_JAW_HYPERREFLEXIA","geneSymbols":["AP4M1","GCH1","NRCAM","SPG21","SPTLC1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_MUSCLE_FIBER_TYPE_DISTRIBUTION":{"collection":"C5:HPO","systematicName":"M43546","pmid":"","exactSource":"HP:0033684","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0033684","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MUSCLE_FIBER_TYPE_DISTRIBUTION","geneSymbols":["ACTA1","ACTN2","AGRN","AGTPBP1","AK9","ALG14","ALG2","ANXA11","BIN1","CAV3","CCDC78","CFL2","CHRNA1","CHRNB1","CHRND","CHRNE","CLCN6","COL13A1","COL6A1","COL6A2","COL6A3","COLQ","COQ5","DNM2","DOK7","DPAGT1","DYNC1H1","EMILIN1","FBXL4","FKBP14","FXR1","GARS1","GDAP1","GFPT1","GMPPB","GYG1","KBTBD13","KCNA1","KLHL40","KLHL41","KY","LAMB2","LMOD3","LRP4","MAP3K20","MB","MTMR14","MUSK","MYF6","MYH14","MYH2","MYH7","MYL1","MYPN","NEB","OBSCN","PNPT1","POLG","POLRMT","POMT1","RAPSN","REEP1","RYR1","RYR3","SCN4A","SELENON","SGCG","SLC25A12","SLC5A6","SMN1","SPEG","SPTLC1","STIM1","TNNC2","TNNT1","TPM2","TPM3","TTN","TWNK","UNC45B","VCP","YME1L1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FIBER_TYPE_GROUPING":{"collection":"C5:HPO","systematicName":"M46347","pmid":"","exactSource":"HP:0033685","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0033685","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FIBER_TYPE_GROUPING","geneSymbols":["ANXA11","EMILIN1","GDAP1","MYH14","POLG","REEP1","SLC5A6","SPTLC1","TWNK","YME1L1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SHORT_TERM_MEMORY_IMPAIRMENT":{"collection":"C5:HPO","systematicName":"M43547","pmid":"","exactSource":"HP:0033687","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0033687","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_TERM_MEMORY_IMPAIRMENT","geneSymbols":["GSN","MAPT","PRNP","RNASEH1","RRM2B","TTPA"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PULMONARY_INTERSTITIAL_THICKENING":{"collection":"C5:HPO","systematicName":"M43548","pmid":"","exactSource":"HP:0033711","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0033711","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PULMONARY_INTERSTITIAL_THICKENING","geneSymbols":["BMPR2","CSF2RB","EIF2AK4","SFTPA1","SFTPB","SFTPC","SLC34A2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_EEG_WITH_FRONTAL_EPILEPTIFORM_DISCHARGES":{"collection":"C5:HPO","systematicName":"M43549","pmid":"","exactSource":"HP:0033716","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0033716","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EEG_WITH_FRONTAL_EPILEPTIFORM_DISCHARGES","geneSymbols":["ADGRG1","FRRS1L","GRIN2A","PI4KA","SPATA5","SRPX2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_EEG_WITH_PARIETAL_EPILEPTIFORM_DISCHARGES":{"collection":"C5:HPO","systematicName":"M45501","pmid":"","exactSource":"HP:0033719","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0033719","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EEG_WITH_PARIETAL_EPILEPTIFORM_DISCHARGES","geneSymbols":["ADGRG1","PI4KA","SRPX2","TBC1D24","TFE3","TRIM8"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_EEG_WITH_CENTROTEMPORAL_EPILEPTIFORM_DISCHARGES":{"collection":"C5:HPO","systematicName":"M43550","pmid":"","exactSource":"HP:0033721","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0033721","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EEG_WITH_CENTROTEMPORAL_EPILEPTIFORM_DISCHARGES","geneSymbols":["FRRS1L","GABRG2","GRIN2A","IQSEC2","SRPX2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_EXTEROCEPTIVE_SENSATION":{"collection":"C5:HPO","systematicName":"M43552","pmid":"","exactSource":"HP:0033747","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0033747","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_EXTEROCEPTIVE_SENSATION","geneSymbols":["ABCA1","ABCD1","ADA2","AEBP1","AIFM1","AIP","ALAD","ALDH18A1","ALDH4A1","APP","ATL1","ATL3","ATP13A2","ATP1A2","ATP7B","ATXN1","BMPR1A","BSCL2","C4A","CACNA1A","CACNA2D1","CALR","CASR","CBLIF","CCND1","CCR1","CCT5","CDKL5","CHAMP1","CHST14","CLCNKB","CLTCL1","COL1A1","COMP","COQ6","CTDP1","CUBN","DCAF8","DDHD1","DEAF1","DEPDC5","DHH","DKK1","DNM1L","DSE","EBF3","ELP1","EPCAM","ERAP1","FAN1","FAR1","FAS","FBN1","FGD4","FLII","FMR1","GABBR2","GABRG2","GALC","GATA1","GBE1","GDAP1","GJB1","GLA","GNA11","GNA14","GNAS","GNB4","GPR101","GRIA3","GRIN2A","H19","HARS1","HDAC4","HERC2","HEXB","HINT1","HK1","HLA-B","HLA-DQB1","HLA-DRB1","HMBS","HNRNPK","HPDL","HPGD","HRAS","HSPB1","IARS2","IFNGR1","IGF2","IL10","IL12A","IL12A-AS1","IL23R","IL6ST","IQSEC2","JAG1","JAK2","KCNJ1","KCNQ1OT1","KDM5C","KIF1A","KIF5A","KLHL9","KLRC4","KRAS","KRT1","KRT14","KRT16","KRT5","KRT9","LIFR","LIG3","LITAF","LMX1B","LZTR1","MADD","MAGEL2","MCM3AP","MECP2","MEFV","MEN1","MFN2","MKRN3","MLH1","MLH3","MORC2","MPL","MPV17","MPZ","MSH2","MSH6","MTHFR","MTRFR","MYORG","NAGA","NAGLU","NALCN","NARS1","NDN","NDRG1","NEFL","NF2","NGF","NGLY1","NKX6-2","NLRP3","NPAP1","NPRL2","NPRL3","NTNG1","NTRK1","OCA2","OPA3","P4HA2","PDCD1","PDK3","PDXK","PEX16","PIK3CA","PLEKHG4","PMP2","PMP22","PMS1","PMS2","PNPT1","POLG","PRDM12","PRNP","PRORP","PRPS1","PRRT2","PSAP","PTPN22","PWAR1","PWRN1","RAB7A","RAI1","RELA","RETREG1","RFX7","RNF170","RPS20","RRM2B","SACS","SBF2","SCN10A","SCN11A","SCN1A","SCN4A","SCN9A","SCYL1","SDHA","SEMA4A","SEPTIN9","SERPING1","SETX","SH2B3","SH3TC2","SHANK3","SIM1","SLC12A1","SLC12A3","SLC19A2","SLC26A2","SLC2A1","SLCO2A1","SMARCB1","SMC1A","SNORD115-1","SNORD116-1","SNRPN","SORD","SPTLC1","SPTLC2","SRPX2","STAT4","STX16","SYNGAP1","TDP1","TET2","TGFBR2","TGM1","THPO","TK2","TLR4","TMEM218","TNFRSF1A","TP53","TRAPPC2","TRIM32","TRIO","TRPM3","TWNK","TYMP","UBAC2","UBTF","UNC80","UROD","UROS","VCP","VWA1","WNK1","YY1","ZEB2","ZFHX2","ZFTA"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPOESTHESIA":{"collection":"C5:HPO","systematicName":"M46348","pmid":"","exactSource":"HP:0033748","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0033748","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOESTHESIA","geneSymbols":["ATL3","ATP7B","COQ6","FGD4","KIF1A","LITAF","LZTR1","MYORG","NF2","PMP22","POLG","PRDM12","PRORP","SERPING1","SMARCB1","TWNK","TYMP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INCREASED_LEFT_VENTRICULAR_END_DIASTOLIC_VOLUME":{"collection":"C5:HPO","systematicName":"M47301","pmid":"","exactSource":"HP:0033755","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0033755","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_LEFT_VENTRICULAR_END_DIASTOLIC_VOLUME","geneSymbols":["ACTC1","ADAMTS19","BAG3","BAG5","CRYAB","CSRP3","DMD","DSG2","FKTN","LDB3","MYBPC3","MYH6","MYPN","NEXN","PSEN1","PSEN2","RAF1","SGCD","TAFAZZIN","TNNI3","TNNT2","TPM1","VCL"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DEATH_IN_ADULTHOOD":{"collection":"C5:HPO","systematicName":"M43553","pmid":"","exactSource":"HP:0033763","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0033763","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEATH_IN_ADULTHOOD","geneSymbols":["ACTB","APP","BAZ1B","BCL7B","BCS1L","BUD23","CLIP2","CST3","DNAJC30","DSP","EIF4H","ELN","EPCAM","FAN1","FKBP6","GTF2I","GTF2IRD1","GTF2IRD2","KRAS","LAMC2","LIMK1","METTL27","MLH1","MLH3","MLXIPL","MSH2","MSH6","MYH6","MYH7","NCF1","PIK3CA","PMS1","PMS2","POLG","POLR3A","POLR3B","RFC2","RPS6KA3","SCN4A","SLC9A6","STX1A","TBL2","TGFBR2","TMEM270","TNNI3","TYMP","VPS37D","VPS4A","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SUPERNUMERARY_CUSP":{"collection":"C5:HPO","systematicName":"M43554","pmid":"","exactSource":"HP:0033777","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0033777","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUPERNUMERARY_CUSP","geneSymbols":["CHSY1","CREBBP","EP300","NEK1","NHS"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ACRAL_OVERGROWTH":{"collection":"C5:HPO","systematicName":"M46350","pmid":"","exactSource":"HP:0033794","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0033794","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACRAL_OVERGROWTH","geneSymbols":["AIP","CAVIN1","GNAS","GPR101","PRKAR1A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CIRCULATING_SEX_HORMONE_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M43556","pmid":"","exactSource":"HP:0033799","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0033799","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_SEX_HORMONE_CONCENTRATION","geneSymbols":["AKT1","ALG6","ALMS1","ANOS1","AR","B4GALNT1","BAP1","BMP15","BMP6","BNC1","BTG4","CDKN2A","CEP112","CHD7","CLN3","CPE","CTDP1","CTNNB1","CYB5A","CYP11A1","CYP11B1","CYP17A1","DCAF17","DHH","DHX37","DMRT3","DMXL2","DUSP6","EIF2B1","ESR1","ESR2","FANCM","FEZF1","FGD1","FGF17","FGF8","FGFR1","FKBP6","FOXL2","FSHB","FSHR","GATA4","GCNA","GDF9","GNAS","GNRH1","GNRHR","HFE","HS6ST1","HSD3B2","INSR","KISS1","KISS1R","LARS2","LEP","LEPR","LGR4","LHB","MAP3K1","MC2R","MCM9","MRAP","MRPS22","MSH4","NDNF","NF2","NFKB2","NHLH2","NNT","NR0B1","NR2F2","NR3C1","NR5A1","NSMF","NUP107","PDGFB","PIK3CA","POLA1","POLR3A","POLR3H","POR","PRKAR1A","PROK2","PROKR2","PSMC3IP","RBM28","SEMA3A","SLC39A4","SMARCB1","SMARCE1","SMO","SOHLH1","SOX9","SPIDR","SPRY4","SRY","STAG3","STAR","SUFU","SYCE1","TAC3","TACR3","TAF4B","TERT","TP53","TP63","TRAF7","TXNRD2","VAMP7","WDR11","WNT4","WT1","WWOX","XRCC2","ZFPM2","ZMYND15","ZNRF3","ZSWIM7"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BLISTERING_BY_ANATOMICAL_LOCATION":{"collection":"C5:HPO","systematicName":"M43557","pmid":"","exactSource":"HP:0033800","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0033800","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BLISTERING_BY_ANATOMICAL_LOCATION","geneSymbols":["CD151","COL17A1","COL2A1","COL7A1","DSG1","DSG3","FBXO28","FERMT1","ITGA6","ITGB4","KRT1","KRT14","KRT16","KRT17","KRT5","KRT6A","KRT6B","LAMA3","LAMB3","LAMC2","MMP1","PKP1","PLEC","SMARCAD1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BLISTERING_BY_HISTOLOGICAL_LOCATION":{"collection":"C5:HPO","systematicName":"M47302","pmid":"","exactSource":"HP:0033801","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0033801","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BLISTERING_BY_HISTOLOGICAL_LOCATION","geneSymbols":["CDSN","COL17A1","COL7A1","ITGA6","ITGB4","KRT14","KRT5","LAMA3","LAMB3","LAMC2","MMP1","PLEC"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INTRA_EPIDERMAL_BLISTERING":{"collection":"C5:HPO","systematicName":"M47303","pmid":"","exactSource":"HP:0033802","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0033802","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTRA_EPIDERMAL_BLISTERING","geneSymbols":["CDSN","ITGB4","KRT14","KRT5","PLEC"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CIRCULATING_ANDROSTENEDIONE_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M46351","pmid":"","exactSource":"HP:0033811","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0033811","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_ANDROSTENEDIONE_CONCENTRATION","geneSymbols":["CDKN2A","CTNNB1","CYP11B1","HSD3B2","NR3C1","POR","PRKAR1A","TERT","TP53","WNT4","ZNRF3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LIVEDO":{"collection":"C5:HPO","systematicName":"M46352","pmid":"","exactSource":"HP:0033832","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0033832","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIVEDO","geneSymbols":["ACTA2","ADA2","ATR","GUCY1A1","MYH11","PDSS1","POLE","RECQL","STING1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_RENAL_VASCULAR_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M43559","pmid":"","exactSource":"HP:0033835","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0033835","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RENAL_VASCULAR_MORPHOLOGY","geneSymbols":["ABCG5","ABCG8","ADA2","ALG9","APOB","ELN","ENPP1","FIG4","GEMIN4","JAG1","LDLR","LDLRAP1","MAX","MLXIPL","NF1","PCSK9","PNPLA2","POU3F4","RET","SDHB","SDHD","STAT1","TMEM127","TOM1","VAC14","VHL","WDR19","YY1AP1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_VIRAL_ENCEPHALITIS":{"collection":"C5:HPO","systematicName":"M43560","pmid":"","exactSource":"HP:0033993","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0033993","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VIRAL_ENCEPHALITIS","geneSymbols":["CD27","CD40LG","DBR1","HYOU1","IRF3","NCKAP1L","SNORA31","STAT1","TBK1","TICAM1","TLR3","TRAF3","UNC93B1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_REDUCED_PROGRESSIVE_SPERM_MOTILITY":{"collection":"C5:HPO","systematicName":"M46353","pmid":"","exactSource":"HP:0034011","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0034011","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_PROGRESSIVE_SPERM_MOTILITY","geneSymbols":["AKAP3","CFAP45","DNAH10","DNAH7","DNALI1","DNHD1","DRC1","FBXO43","IFT74","RPL10L","SSX1","TEKT3","USP26","WDR19"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CIRCULATING_GABA_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M43561","pmid":"","exactSource":"HP:0034025","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0034025","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_GABA_CONCENTRATION","geneSymbols":["ALDH5A1","APP","MPO","NOS3","PLAU","USP53"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PERIPHERAL_CYANOSIS":{"collection":"C5:HPO","systematicName":"M43562","pmid":"","exactSource":"HP:0034033","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0034033","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERIPHERAL_CYANOSIS","geneSymbols":["ADAR","AGXT","COL1A1","COL5A1","COL5A2","ELP1","ETHE1","FUCA1","IFIH1","KCNQ2","KCNQ3","LSM11","MVK","PAX3","RNASEH2A","RNASEH2B","RNASEH2C","RNU7-1","RPS6KA3","SAMHD1","SEPTIN9","TCF4","TREX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ANGULATED_MUSCLE_FIBERS":{"collection":"C5:HPO","systematicName":"M47304","pmid":"","exactSource":"HP:0034045","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0034045","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANGULATED_MUSCLE_FIBERS","geneSymbols":["ANXA11","GDAP1","LRIF1","SMN1","SPTLC1","TRIP4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FETAL_ANOMALY":{"collection":"C5:HPO","systematicName":"M45502","pmid":"","exactSource":"HP:0034057","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0034057","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FETAL_ANOMALY","geneSymbols":["AARS1","ABCB4","ABCC6","ABCD4","ACTA1","ACTL6B","ADA","ADA2","ADAMTS3","ADARB1","ADCY6","ADGRG6","AFF2","AGGF1","AGRN","AHCY","ALDH7A1","ALG1","ALG14","ALG8","ALG9","ALPK3","AP1S2","AP3B2","ARSL","ARV1","ASAH1","ASCC1","ASCL1","ASNS","ASXL2","ATAD3A","ATN1","ATP1A2","ATP1A3","ATP6V1A","ATP6V1B2","ATP8B1","B3GLCT","B9D1","BAZ1B","BCL7B","BICD2","BIN1","BMPER","BNC2","BRD4","BSND","BUB1","BUB1B","BUB3","BUD23","CACNA1A","CACNA1B","CACNA1C","CACNA2D1","CALCRL","CAMK2B","CAMKMT","CARS2","CASP10","CBL","CCBE1","CCDC174","CCDC22","CCDC47","CDAN1","CDC42BPB","CDK19","CELF2","CEP57","CHAT","CHD7","CHMP2B","CHRNA1","CHRND","CHRNE","CHRNG","CHUK","CLCN3","CLIP2","CLPB","CLTC","CNKSR2","CNTN1","CNTNAP1","COL11A1","COL12A1","COL13A1","COL1A1","COL1A2","COL25A1","COL2A1","COL6A1","COL6A2","COL6A3","COX11","COX15","CPLX1","CPSF3","CRB2","CRLS1","CRPPA","CSGALNACT1","CTBP1","CTCF","CTSA","CYFIP2","DALRD3","DCLRE1C","DDX6","DEAF1","DHCR7","DHDDS","DHPS","DMPK","DNA2","DNAJC30","DNM1","DNM1L","DNM2","DNMT3A","DOCK6","DOHH","DOK7","DPAGT1","DPF2","DPH5","DPYSL5","DYNC2H1","DYNC2I1","DYNC2I2","EBF3","EBP","EEF1A2","EFNB1","EIF4H","EIF5A","ELN","EMC10","ENPP1","EPB41","EPHB4","ERBB3","ERCC5","ERGIC1","EXOSC9","FANCB","FANCF","FAS","FASLG","FAT4","FBXO28","FGF12","FGF13","FGFR3","FGFRL1","FH","FIG4","FKBP14","FKBP6","FLII","FLNB","FLT4","FOXC2","FOXF1","FOXRED1","FXR1","FZR1","GABBR2","GABRA2","GABRA5","GABRB2","GABRG2","GATA1","GATA6","GATB","GATC","GBA1","GBE1","GFPT1","GGPS1","GLB1","GLDN","GLE1","GLRB","GMPPB","GNB2","GOSR2","GPC6","GPKOW","GRIN2D","GRIP1","GRN","GTF2I","GTF2IRD1","GTF2IRD2","GUSB","GYPC","H19","H4C3","HACD1","HADHA","HBA1","HBA2","HCN1","HDAC8","HEATR3","HERC2","HLCS","HNRNPK","HOXD13","HRAS","HSD17B4","HSPG2","IFT80","IGF2","IGHMBP2","IKZF1","IL1RN","IL2RB","IL2RG","IL7R","IPO8","IQSEC2","ITGA7","KANSL1","KBTBD13","KCNA2","KCNB1","KCNQ5","KIAA0586","KIF20A","KIF21A","KIF26A","KIF5C","KLF1","KLHL40","KLHL41","KMT2D","KRAS","LAMA5","LARS2","LBR","LETM1","LGI4","LIG4","LIMK1","LMNA","LMOD3","LRPPRC","LZTR1","MAGEL2","MAP3K20","MAP3K7","MAPT","MCM10","MCTP2","MDFIC","MECOM","MEGF10","METTL27","MGAT2","MKRN3","MKS1","MLXIPL","MMACHC","MPZ","MRAS","MRPS16","MRPS22","MT-ND1","MT-ND2","MT-ND3","MTM1","MTMR14","MUSK","MYCN","MYF6","MYH3","MYH7","MYL1","MYL11","MYL2","MYL9","MYMK","MYO9A","MYOD1","MYPN","NAA10","NAA20","NALCN","NCF1","NDN","NDUFA1","NDUFA10","NDUFA11","NDUFA6","NDUFAF1","NDUFAF2","NDUFAF3","NDUFAF4","NDUFAF5","NDUFAF8","NDUFB10","NDUFB11","NDUFB3","NDUFB9","NDUFS1","NDUFS2","NDUFS3","NDUFS4","NDUFS6","NDUFS7","NDUFS8","NDUFV1","NDUFV2","NEB","NECAP1","NEK1","NEK9","NELFA","NEU1","NEXMIF","NFASC","NIPBL","NPAP1","NPC1","NPC2","NR1H4","NRAS","NSD1","NSD2","NSF","NTRK2","NUBPL","NUP188","NUP88","NUS1","OCA2","ODC1","OSTM1","PACS1","PACS2","PAK2","PARS2","PAX7","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PGAP2","PGAP3","PHGDH","PHOX2B","PI4KA","PIEZO1","PIGA","PIGG","PIGL","PIGN","PIGO","PIGS","PIGV","PIGW","PIGY","PKLR","PLD1","PLOD1","PLPBP","PMM2","POLR2A","POR","PPM1B","PPP3CA","PREPL","PRKCD","PRUNE1","PSAT1","PSEN1","PTH1R","PTPN11","PTRH2","PWAR1","PWRN1","QRICH1","QRSL1","RAC1","RAD21","RAF1","RAG1","RAG2","RAI1","RAPSN","RASA1","RASA2","RASGRP1","RET","RFC2","RHD","RIPK4","RIT1","RMRP","RNU4ATAC","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS7","RRAS","RRAS2","RYR1","RYR3","SCARF2","SCN3A","SCN4A","SCN5A","SCN8A","SCYL2","SELENON","SHQ1","SLC13A5","SLC16A2","SLC17A5","SLC18A3","SLC1A2","SLC25A1","SLC25A19","SLC25A26","SLC26A2","SLC27A4","SLC2A1","SLC30A9","SLC31A1","SLC35A2","SLC35D1","SLC38A3","SLC3A1","SLC5A7","SLC6A9","SMC1A","SMC3","SMN1","SNAP25","SNORD115-1","SNORD116-1","SNRPN","SON","SOS1","SOS2","SOX10","SOX18","SPECC1L","SPEN","SPRED2","SPTA1","SPTB","SQSTM1","STAG1","STX1A","SYNE1","SYNGAP1","SYNJ1","SYT2","SZT2","TALDO1","TAPT1","TBC1D24","TBCK","TBL2","TCF4","TGM1","THSD1","TIMMDC1","TLK2","TMCO1","TMEM106B","TMEM126B","TMEM270","TNNC2","TOR1A","TPM2","TPM3","TRAF7","TRAIP","TRAK1","TREM2","TRIM37","TRIP11","TRIP13","TRIP4","TRPV4","TSFM","TSR2","TTC26","TTC7A","TUBA1A","TWIST2","TXNDC15","UBA1","UBA5","UNC45B","UQCRFS1","UROD","UROS","USP18","USP7","VAC14","VAMP1","VCP","VPS13B","VPS35L","VPS37D","WASHC5","WDR35","WDR62","WNT3","WNT4","WNT7A","WT1","WWOX","YWHAG","ZBTB18","ZBTB42","ZC4H2","ZIC3","ZMPSTE24","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_FETAL_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M45503","pmid":"","exactSource":"HP:0034058","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0034058","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FETAL_MORPHOLOGY","geneSymbols":["ABCC6","ADA","ADA2","ADAMTS3","ADARB1","ADGRG6","AGGF1","AHCY","ALG1","ALG8","ALG9","ALPK3","ARSL","ASAH1","ASXL2","ATN1","ATP6V1B2","B9D1","BAZ1B","BCL7B","BMPER","BNC2","BRD4","BSND","BUB1","BUB1B","BUB3","BUD23","CACNA1C","CALCRL","CARS2","CASP10","CBL","CCBE1","CCDC22","CDAN1","CDC42BPB","CEP57","CHD7","CHMP2B","CHRNG","CLCN3","CLIP2","COL11A1","COL1A1","COL1A2","COL2A1","CRB2","CRLS1","CSGALNACT1","CTSA","DCLRE1C","DDX6","DHCR7","DHPS","DNAJC30","DOHH","DPF2","DPYSL5","DYNC2H1","DYNC2I1","DYNC2I2","EBP","EFNB1","EIF4H","EIF5A","ELN","ENPP1","EPB41","EPHB4","FANCB","FANCF","FAS","FASLG","FAT4","FGF13","FGFR3","FH","FIG4","FKBP6","FLNB","FLT4","FOXC2","FOXF1","GATA1","GATA6","GATB","GATC","GBA1","GBE1","GLB1","GNB2","GPC6","GRIP1","GRN","GTF2I","GTF2IRD1","GTF2IRD2","GUSB","GYPC","HADHA","HBA1","HBA2","HDAC8","HEATR3","HLCS","HNRNPK","HOXD13","HRAS","HSD17B4","HSPG2","IFT80","IL2RG","IL7R","KANSL1","KIAA0586","KIF20A","KIF26A","KLF1","KMT2D","KRAS","LAMA5","LARS2","LBR","LIG4","LIMK1","LRPPRC","LZTR1","MAPT","MCM10","MCTP2","MDFIC","MECOM","METTL27","MGAT2","MKS1","MLXIPL","MMACHC","MRAS","MRPS16","MRPS22","MUSK","MYH7","MYL11","MYL9","NCF1","NDUFB10","NEK1","NEK9","NEU1","NIPBL","NPC1","NPC2","NR1H4","NRAS","NSF","NUP88","ODC1","PACS1","PAK2","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PGAP2","PGAP3","PI4KA","PIEZO1","PIGA","PIGL","PIGN","PIGO","PIGV","PIGW","PIGY","PKLR","PLD1","PMM2","POR","PPP3CA","PRKCD","PSAT1","PSEN1","PTH1R","PTPN11","QRICH1","QRSL1","RAC1","RAD21","RAF1","RAG1","RAG2","RASA1","RASA2","RASGRP1","RFC2","RHD","RIT1","RMRP","RNU4ATAC","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS7","RRAS","RRAS2","RYR1","RYR3","SCARF2","SCN4A","SCN5A","SLC17A5","SLC26A2","SLC27A4","SLC30A9","SLC31A1","SLC35A2","SLC35D1","SMC1A","SMC3","SOS1","SOS2","SOX18","SPECC1L","SPRED2","SPTA1","SPTB","SQSTM1","STAG1","STX1A","TALDO1","TAPT1","TBC1D24","TBCK","TBL2","TCF4","TGM1","THSD1","TLK2","TMEM106B","TMEM270","TRAF7","TREM2","TRIM37","TRIP11","TRIP13","TSR2","TTC7A","TWIST2","TXNDC15","UROD","UROS","VAC14","VCP","VPS35L","VPS37D","WASHC5","WDR35","WNT3","WNT4","WNT7A","WT1","ZBTB18","ZBTB42","ZIC3","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_FETAL_PHYSIOLOGY":{"collection":"C5:HPO","systematicName":"M45504","pmid":"","exactSource":"HP:0034059","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0034059","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FETAL_PHYSIOLOGY","geneSymbols":["AARS1","ABCB4","ABCC6","ABCD4","ACTA1","ACTL6B","ADCY6","ADGRG6","AFF2","AGRN","ALDH7A1","ALG14","ALG8","ALG9","AP1S2","AP3B2","ARV1","ASCC1","ASCL1","ASNS","ATAD3A","ATP1A2","ATP1A3","ATP6V1A","ATP8B1","B3GLCT","BICD2","BIN1","BRD4","BUB1","CACNA1A","CACNA1B","CACNA2D1","CAMK2B","CAMKMT","CCDC174","CCDC47","CDC42BPB","CDK19","CELF2","CHAT","CHRNA1","CHRND","CHRNE","CHRNG","CHUK","CLPB","CLTC","CNKSR2","CNTN1","CNTNAP1","COL12A1","COL13A1","COL25A1","COL6A1","COL6A2","COL6A3","COX11","COX15","CPLX1","CPSF3","CRPPA","CTBP1","CTCF","CYFIP2","DALRD3","DEAF1","DHCR7","DHDDS","DMPK","DNA2","DNM1","DNM1L","DNM2","DNMT3A","DOCK6","DOK7","DPAGT1","DPH5","DPYSL5","EBF3","EEF1A2","EMC10","ENPP1","ERBB3","ERCC5","ERGIC1","EXOSC9","FBXO28","FGF12","FGF13","FGFR3","FGFRL1","FKBP14","FLII","FOXRED1","FXR1","FZR1","GABBR2","GABRA2","GABRA5","GABRB2","GABRG2","GBA1","GBE1","GFPT1","GGPS1","GLDN","GLE1","GLRB","GMPPB","GNB2","GOSR2","GPKOW","GRIN2D","H19","H4C3","HACD1","HCN1","HDAC8","HERC2","HSPG2","IGF2","IGHMBP2","IKZF1","IL1RN","IL2RB","IPO8","IQSEC2","ITGA7","KBTBD13","KCNA2","KCNB1","KCNQ5","KIF21A","KIF5C","KLHL40","KLHL41","LETM1","LGI4","LMNA","LMOD3","LRPPRC","MAGEL2","MAP3K20","MAP3K7","MEGF10","MKRN3","MPZ","MT-ND1","MT-ND2","MT-ND3","MTM1","MTMR14","MUSK","MYCN","MYF6","MYH3","MYL1","MYL2","MYMK","MYO9A","MYOD1","MYPN","NAA10","NAA20","NALCN","NDN","NDUFA1","NDUFA10","NDUFA11","NDUFA6","NDUFAF1","NDUFAF2","NDUFAF3","NDUFAF4","NDUFAF5","NDUFAF8","NDUFB10","NDUFB11","NDUFB3","NDUFB9","NDUFS1","NDUFS2","NDUFS3","NDUFS4","NDUFS6","NDUFS7","NDUFS8","NDUFV1","NDUFV2","NEB","NECAP1","NEK9","NELFA","NEXMIF","NFASC","NIPBL","NPAP1","NSD1","NSD2","NTRK2","NUBPL","NUP188","NUP88","NUS1","OCA2","ODC1","OSTM1","PACS2","PARS2","PAX7","PEX19","PEX2","PEX3","PGAP2","PHGDH","PHOX2B","PIGA","PIGG","PIGS","PLOD1","PLPBP","POLR2A","PPM1B","PPP3CA","PREPL","PRUNE1","PSAT1","PTRH2","PWAR1","PWRN1","RAD21","RAI1","RAPSN","RET","RIPK4","RPL11","RYR1","SCN3A","SCN4A","SCN8A","SCYL2","SELENON","SHQ1","SLC13A5","SLC16A2","SLC18A3","SLC1A2","SLC25A1","SLC25A19","SLC25A26","SLC2A1","SLC38A3","SLC3A1","SLC5A7","SLC6A9","SMC1A","SMC3","SMN1","SNAP25","SNORD115-1","SNORD116-1","SNRPN","SON","SOX10","SPEN","SYNE1","SYNGAP1","SYNJ1","SYT2","SZT2","TBCK","TIMMDC1","TMCO1","TMEM126B","TNNC2","TOR1A","TPM2","TPM3","TRAIP","TRAK1","TRIP4","TRPV4","TSFM","TTC26","TUBA1A","UBA1","UBA5","UNC45B","UQCRFS1","USP18","USP7","VAMP1","VPS13B","WDR62","WWOX","YWHAG","ZBTB42","ZC4H2","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_THIRD_TRIMESTER_ONSET":{"collection":"C5:HPO","systematicName":"M46354","pmid":"","exactSource":"HP:0034197","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0034197","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THIRD_TRIMESTER_ONSET","geneSymbols":["ADCY6","ADGRG6","ALG1","ALPK3","ASNS","BICD2","CNTNAP1","COASY","CRLS1","FANCB","FZR1","GINS1","GLDN","KMT2B","KMT2D","MDFIC","MPDZ","MRPS22","NADK2","NDUFB11","NUP155","PLG","POMK","PPP3CA","PRKAG2","PYCR1","RECQL4","RPL26","SCN4A","SDHA","SERPINH1","SHQ1","SNAP25","SOX18","TNFRSF11A","TRPV6","UBR1","ZIC3","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SECOND_TRIMESTER_ONSET":{"collection":"C5:HPO","systematicName":"M46355","pmid":"","exactSource":"HP:0034198","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0034198","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SECOND_TRIMESTER_ONSET","geneSymbols":["ACTA1","ADGRG6","ALPK3","B4GAT1","BICD2","BMPER","CCDC88C","COASY","COL2A1","CREB3L1","ERCC5","FGFR3","FH","GFRA1","GRIP1","IARS1","KIF14","KMT2D","L1CAM","MDFIC","MKS1","MYRF","NDUFB7","NEK8","NUP88","PLXND1","RECQL4","RMRP","ROBO1","SCN4A","SCN5A","SIN3A","SLC25A19","STRA6","TBXT","TCTN3","THSD1","TRIP11","TXNDC15","WT1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LATE_FIRST_TRIMESTER_ONSET":{"collection":"C5:HPO","systematicName":"M47305","pmid":"","exactSource":"HP:0034199","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0034199","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LATE_FIRST_TRIMESTER_ONSET","geneSymbols":["B9D1","BMPER","FGFR3","KMT2D","PLXND1","TBXT","TXNDC15"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CSF_HOMOVANILLIC_ACID_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M46356","pmid":"","exactSource":"HP:0034200","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0034200","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CSF_HOMOVANILLIC_ACID_CONCENTRATION","geneSymbols":["DDC","GCH1","IMPDH2","NGLY1","NR4A2","PNPO","PTS","SLC6A3","TH","TSPOAP1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_FETAL_CENTRAL_NERVOUS_SYSTEM_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M46357","pmid":"","exactSource":"HP:0034206","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0034206","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FETAL_CENTRAL_NERVOUS_SYSTEM_MORPHOLOGY","geneSymbols":["ASXL2","CDC42BPB","DHPS","DPYSL5","MRPS16"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_FETAL_GASTROINTESTINAL_SYSTEM_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M46358","pmid":"","exactSource":"HP:0034207","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0034207","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FETAL_GASTROINTESTINAL_SYSTEM_MORPHOLOGY","geneSymbols":["ADGRG6","EIF5A","FANCB","GATA1","GNB2","HSD17B4","KIF26A","KMT2D","LBR","MDFIC","NPC1","NPC2","NUP88","PIGY","PTH1R","RHD","TRIP11","ZBTB42","ZIC3","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_TEMPORAL_LOBE_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M46359","pmid":"","exactSource":"HP:0034221","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0034221","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_TEMPORAL_LOBE_MORPHOLOGY","geneSymbols":["ABCC6","ACD","ACP5","ACVR1","ADAR","AIRE","AMER1","AP1S2","APP","ATP7A","BRAF","CA2","CASR","CLCNKB","COL11A1","COL2A1","COLGALT1","CPT2","CSF1R","CTC1","CTNNB1","CTNS","CTSC","CYP2U1","DAG1","DDR2","DENND5A","DKC1","DNM1L","ECM1","ENPP1","ERCC1","ERCC2","ERCC3","ERCC4","ERCC5","ERCC6","ERCC8","EXOSC2","FAM111A","FAM20C","FARSB","FGFR1","FGFR3","GATA3","GJA1","GNA11","GNAQ","GNAS","HLA-DQA1","HLA-DQB1","HRAS","IFIH1","IFNG","IRF8","ISG15","JAM2","KARS1","KATNB1","KL","KRAS","KRIT1","LSM11","MGP","MT-CO1","MT-CO2","MT-CO3","MT-ND1","MT-ND4","MT-ND5","MT-ND6","MT-TF","MT-TH","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TW","MYMK","MYMX","MYO5A","MYORG","NDE1","NHP2","NOP10","NPM1","NRAS","NSMCE3","OCLN","ODC1","OPA1","PAH","PARN","PDGFB","PDGFRB","PEX1","PEX6","POT1","PPFIBP1","PSMB8","PSMG2","PTCH1","PTCH2","PTH","QDPR","RAB39B","RELN","RNASEH2A","RNASEH2B","RNASEH2C","RNASET2","RNU7-1","RTEL1","SAMHD1","SC5D","SLC12A3","SLC20A2","SLC25A46","SLC26A2","SLC29A3","SLC2A1","SLC46A1","SLC4A4","SMARCB1","SNORD118","SNRPB","STAT2","SUCLA2","SUFU","TCIRG1","TERC","TERT","TINF2","TNFRSF11A","TREM2","TREX1","TSC1","TSC2","TYMS","TYROBP","USB1","USP18","VPS33A","WRAP53","WWOX","XPR1","ZBTB20","ZNFX1","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_OPEN_NEURAL_TUBE_DEFECT":{"collection":"C5:HPO","systematicName":"M46360","pmid":"","exactSource":"HP:0034237","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0034237","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OPEN_NEURAL_TUBE_DEFECT","geneSymbols":["AHI1","AIPL1","ALX1","ALX3","ALX4","ARHGAP31","ARL13B","ARL3","ARMC9","ARPC4","B4GAT1","B9D1","B9D2","BMPER","C2CD3","CBY1","CC2D2A","CCL2","CDON","CEP104","CEP120","CEP290","CEP41","CEP55","COL18A1","CPLANE1","CRB1","CRPPA","CRX","CSPP1","CYP26B1","DACT1","DISP1","DLL1","DLL4","DOCK6","EOGT","ESCO2","FGF8","FGFR1","FGFR3","FKRP","FKTN","FLNA","FLNB","FLVCR2","FOXH1","FRAS1","FREM2","FUZ","GAS1","GDF6","GLI2","GLI3","GMPPB","GPKOW","GRIP1","GUCY2D","H19","HES7","HNRNPK","HOXD13","HSPG2","HYLS1","IFT140","IFT74","IGF2","IMPDH1","INPP5E","IQCB1","KATNIP","KCNJ13","KCNQ1OT1","KIAA0586","KIAA0753","KIF7","LAMB1","LARGE1","LCA5","LRAT","MKS1","MSX2","NDE1","NMNAT1","NODAL","NOTCH1","NPHP1","NUAK2","OFD1","PAK2","PAX3","PCYT1A","PDE6D","PHGDH","PIBF1","POLR1B","POLR1C","POLR1D","POMGNT1","POMK","POMT1","POMT2","PORCN","PTCH1","RBPJ","RD3","RDH12","RPE65","RPGRIP1","RPGRIP1L","SC5D","SF3B2","SHH","SIN3A","SIX3","SMO","SNRPB","SPATA7","STIL","SUFU","TBX15","TBXT","TCOF1","TCTN1","TCTN2","TCTN3","TDGF1","TGIF1","TMEM107","TMEM138","TMEM216","TMEM218","TMEM231","TMEM237","TMEM67","TMTC3","TOGARAM1","TRIM36","TUBB4B","TULP1","TXNDC15","USP45","VANGL1","VANGL2","VSX1","WDR81","ZIC2","ZIC3","ZNF423","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CLOSED_NEURAL_TUBE_DEFECT":{"collection":"C5:HPO","systematicName":"M46361","pmid":"","exactSource":"HP:0034238","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0034238","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CLOSED_NEURAL_TUBE_DEFECT","geneSymbols":["ABCD1","ALX4","ARPC4","ARSB","ARVCF","B3GALNT2","BMPER","BTD","CCL2","CEP290","COL18A1","COL2A1","COMT","CPLANE1","CRPPA","CSPP1","CYP27A1","DACT1","DKK1","DLL3","EXT1","EXT2","FKRP","FKTN","FLNA","FRAS1","FREM2","FUZ","GALNS","GJA1","GLB1","GLI3","GMPPB","GNPTAB","GP1BB","GRIP1","H19","HES7","HIRA","HNRNPK","IGF2","INPP5E","JMJD1C","KCNQ1OT1","KIAA0586","LARGE1","LFNG","MESP2","MSX2","NAXE","NF2","NMNAT1","NOTCH3","OFD1","PAX3","POMGNT1","POMT1","POMT2","PORCN","PTCH1","RASA1","RIPPLY2","RREB1","SC5D","SEC24C","SIN3A","SMO","SNRPB","TBX1","TBXT","TMEM216","TMEM237","UFD1","VANGL1","VANGL2","WNT7A","ZIC3","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PRENATAL_DEATH":{"collection":"C5:HPO","systematicName":"M46362","pmid":"","exactSource":"HP:0034241","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0034241","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PRENATAL_DEATH","geneSymbols":["ALB","ALPL","BIN1","CALCRL","CENPF","CEP120","CEP55","CLN8","COL11A1","COL2A1","DLK1","DNM2","ENG","ESCO2","FCGR3B","FGA","FGB","FGG","FLNA","FLNB","GBA1","GDF5","GRIP1","HBB","HOXA13","HSPG2","HYLS1","IL6ST","JAK2","LBR","LGI4","MEG3","MGP","MPL","MTMR14","MUSK","MYF6","NEK8","NLRP7","NSD2","NSDHL","NUP88","OSTM1","PHGDH","PITX1","PLIN1","PLXND1","POR","PTH1R","RAD51C","REC114","RHAG","RHCE","RHD","RMND1","RNU4ATAC","RTL1","RYR1","SERPINC1","SERPINE1","SLC26A2","SLC35D1","THPO","TRIP11","WRN","WT1","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_FETAL_GENITOURINARY_SYSTEM_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M46363","pmid":"","exactSource":"HP:0034242","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0034242","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FETAL_GENITOURINARY_SYSTEM_MORPHOLOGY","geneSymbols":["B9D1","BNC2","CDC42BPB","CLCN3","FGF13","FH","GRIP1","KANSL1","MYL9","PI4KA","PIGA","TBCK","ZBTB18"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_FETAL_PULMONARY_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M47306","pmid":"","exactSource":"HP:0034243","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0034243","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FETAL_PULMONARY_MORPHOLOGY","geneSymbols":["CRLS1","MDFIC","NUP88","PI4KA","RHD","THSD1","TTC7A","WNT4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CORNEAL_REFLEX":{"collection":"C5:HPO","systematicName":"M46364","pmid":"","exactSource":"HP:0034251","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0034251","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CORNEAL_REFLEX","geneSymbols":["ALG11","CLTCL1","DST","ELP1","IL6ST","KIF1A","LIFR","NTRK1","RETREG1","SCN9A","WNK1","ZFHX2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APLASIA_HYPOPLASIA_OF_FACIAL_BONES":{"collection":"C5:HPO","systematicName":"M46365","pmid":"","exactSource":"HP:0034261","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0034261","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_FACIAL_BONES","geneSymbols":["ALX1","BAZ1B","BCL7B","BRAF","BUD23","CEP120","CHD7","CLIP2","CNOT1","COL11A1","DNAJC30","DYM","EDA","EIF4H","ELN","FGFR1","FGFR2","FIG4","FKBP6","GLI2","GTF2I","GTF2IRD1","GTF2IRD2","KRAS","LIMK1","LMNA","MAP2K1","MAP2K2","METTL27","MLXIPL","MTHFR","NBAS","NCF1","NECTIN1","NOTCH2","OFD1","PEPD","POLR1B","POLR1C","POLR1D","POLR3A","PTCH1","RFC2","RUNX2","SEMA3E","SF3B2","SF3B4","SIX3","SMOC1","STX1A","TBL2","TCOF1","TMEM270","TWIST2","VANGL2","VPS13B","VPS37D"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_GASTROINTESTINAL_ULCER":{"collection":"C5:HPO","systematicName":"M46366","pmid":"","exactSource":"HP:0034274","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0034274","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GASTROINTESTINAL_ULCER","geneSymbols":["AP2S1","ARID1B","ASCC1","ASXL1","BAZ1B","BCL7B","BUD23","CDC73","CDKN1A","CDKN1B","CDKN2B","CDKN2C","CISD2","CLIP2","COL7A1","CTHRC1","DNAJC30","EIF4H","ELN","EP300","FKBP6","GBA1","GNA11","GTF2I","GTF2IRD1","GTF2IRD2","HPGD","KIT","LIMK1","MEN1","METTL27","MLXIPL","MMP1","MSR1","NCF1","PI4KA","PLA2G4A","PLG","RFC2","SLCO2A1","SRSF2","STX1A","SYK","TBL2","TET2","TMEM270","TNFAIP3","TTC7A","VPS37D","WFS1","XYLT2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PHALANGEAL_CONE_SHAPED_EPIPHYSES":{"collection":"C5:HPO","systematicName":"M46367","pmid":"","exactSource":"HP:0034281","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0034281","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PHALANGEAL_CONE_SHAPED_EPIPHYSES","geneSymbols":["ATR","BGN","COG4","COL2A1","DYM","EIF2AK3","EVC","EVC2","EXT1","FGFR3","FLNA","GDF5","GPX4","IFT140","IFT172","IFT52","IHH","KIF15","MIA3","MRPS28","NEK1","NPR2","PRKAR1A","RAD21","RMRP","RUNX2","SRCAP","TBC1D2B","TRIP11","TRPS1","TRPV4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_REDUCED_CEREBRAL_WHITE_MATTER_VOLUME":{"collection":"C5:HPO","systematicName":"M46368","pmid":"","exactSource":"HP:0034295","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0034295","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_CEREBRAL_WHITE_MATTER_VOLUME","geneSymbols":["ARF1","ASNS","ASXL2","BCL11B","BRPF1","CHMP1A","CLP1","CRLS1","CTNNA2","DNM1","GABRG2","IREB2","KCNT2","KIF26A","MTOR","NANS","NDUFA2","NDUFA6","NDUFA9","PCLO","PIGL","PPP3CA","PYCR2","RAB11B","SLITRK2","SPTAN1","TMEM147","TUBB2A","UFC1","WARS1","WDR45B","ZNF335"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_UNUSUAL_VIRUS_REACTIVATION":{"collection":"C5:HPO","systematicName":"M47307","pmid":"","exactSource":"HP:0034318","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0034318","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UNUSUAL_VIRUS_REACTIVATION","geneSymbols":["ARHGEF1","BLM","CASP8","CD247","CD3D","CD3E","CIITA","DPP9","FCGR3A","IGHG2","IGKC","IL2RG","MBL2","NFKB2","POLR3F","REL","RFX5","RFXANK","RFXAP","STAT1","TOM1","TPP2","UNC119","UNC93B1","WAS"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_REDUCED_CIRCULATING_GROWTH_HORMONE_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M47308","pmid":"","exactSource":"HP:0034323","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0034323","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_CIRCULATING_GROWTH_HORMONE_CONCENTRATION","geneSymbols":["DSG1","GH1","MARS2","OTX2","POU1F1","PROP1","ROBO1","TMEM67"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INHERITANCE_QUALIFIER":{"collection":"C5:HPO","systematicName":"M46371","pmid":"","exactSource":"HP:0034335","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0034335","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INHERITANCE_QUALIFIER","geneSymbols":["ABL1","ACTN4","ACVR1B","ADA","AIP","AKT1","ANO3","APC","AR","ARHGAP26","ARMC5","ASCC1","ASPSCR1","ASXL1","ATL1","ATM","ATN1","ATP11A","ATP1A2","ATP1A3","ATXN1","ATXN10","ATXN2","ATXN3","ATXN7","AURKA","AXIN1","AXIN2","BARD1","BAX","BCL10","BCR","BMPR2","BRAF","BRCA1","BRCA2","BRIP1","BUB1","BUB1B","C1GALT1C1","CACNA1A","CACNA1S","CACNB4","CALR","CASP10","CASP8","CAV1","CBL","CCND1","CDC73","CDH1","CDH23","CEBPA","CFC1","CHD8","CHEK2","CHIC2","CHRNA2","CHRNA4","CHRNA7","CILK1","CLCN2","COL4A1","COL4A2","CPOX","CREB1","CRELD1","CTHRC1","CTLA4","CTNNB1","CYP2A6","DCC","DCHS1","DCX","DDX41","DEPDC5","DICER1","DLC1","DLST","DLX5","DNMT3A","DSTYK","DZIP1","EGFR","EIF2AK1","ELOVL4","ELP1","EP300","EPHB4","ERBB2","ERBB3","ERCC6","ESR1","ETV6","EWSR1","EXT1","EYA1","FASLG","FGF23","FGFR1","FGFR2","FGFR3","FH","FIGLA","FLCN","FLT3","FMR1","FOXE3","FOXO1","GABRB3","GABRG2","GATA2","GATA5","GJA5","GJA8","GJB1","GJC2","GLI2","GNAI2","GNAS","GNB1","GNB2","GPC3","GPC4","GPR161","GREB1L","GRIN2A","GUCY2D","H19","HCN1","HDAC4","HMMR","HNRNPDL","HRAS","IDH1","IFIH1","IGF2","IGF2R","IKZF1","IL1B","IL1RN","IL6","IL6ST","INAVA","IRF1","JAG1","JAK2","KANK1","KANSL1","KIF11","KIF1B","KIF5A","KIT","KLF13","KLF6","KMT2B","KMT2C","KRAS","KRIT1","LHCGR","LIG4","LPP","LRP5","LRRK2","LRSAM1","LZTR1","LZTS1","MAD1L1","MAP3K8","MAPK1","MCC","MET","MFN2","MINPP1","MKRN3","MLH3","MLLT10","MN1","MNX1","MPL","MSH3","MSH6","MSR1","MT-ATP6","MT-CO3","MT-CYB","MT-ND1","MT-ND2","MT-ND4","MT-ND4L","MT-ND5","MT-ND6","MTOR","MUTYH","MXI1","MYC","MYD88","NBN","NEK9","NF1","NF2","NLRP12","NPM1","NPRL2","NPRL3","NQO2","NR4A3","NR5A1","NRAS","NRIP1","NRL","NUMA1","NUP214","OPA1","OPCML","OTULIN","PARN","PAX2","PAX3","PAX6","PAX7","PDGFB","PDGFRA","PDGFRL","PHB1","PICALM","PIGA","PIGT","PIK3CA","PIK3R2","PITX1","PKD2","PLA2G2A","PLAG1","POF1B","POLR2A","POT1","POU6F2","PPM1D","PPP2R1B","PRCC","PRKCG","PRKN","PROK2","PROKR2","PRPF31","PRPF8","PRRT2","PTCH1","PTCH2","PTEN","PTPN11","PTPN12","PTPRJ","PUM1","RAD51","RAD54B","RAD54L","RANBP2","RARA","RB1","RB1CC1","RBM12","RELN","RHOA","RNF6","RORB","RPS14","RPS29","RTEL1","RUNX1","SCN1B","SCN4A","SDHB","SEMA6B","SF3B1","SGCE","SH2B3","SH3GL1","SHH","SIX1","SIX3","SLC12A5","SLC22A18","SLC2A1","SLC35A2","SMAD4","SMAD6","SMAD9","SMARCB1","SMARCC1","SMARCE1","SMO","SPAST","SRC","SRD5A2","SRGAP1","SSX2","STAT1","STK11","SUFU","TAF15","TAL1","TAL2","TBK1","TENM4","TERC","TERT","TET2","TFE3","TGFBR2","THAP1","TICAM1","TLR2","TLR3","TM4SF20","TMEM151A","TOR1A","TP53","TRPV4","TSC1","TSC2","TTN","UBA1","UCHL1","USP48","VMA21","VWF","WNT10B","WT1","WWOX","XRCC3","ZBTB7A","ZFHX3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CLAW_HAND_DEFORMITY":{"collection":"C5:HPO","systematicName":"M47309","pmid":"","exactSource":"HP:0034337","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0034337","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CLAW_HAND_DEFORMITY","geneSymbols":["HK1","HSPB1","INF2","NDRG1","PDXK","SIGMAR1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APPENDICULAR_SPASTICITY":{"collection":"C5:HPO","systematicName":"M46372","pmid":"","exactSource":"HP:0034353","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0034353","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APPENDICULAR_SPASTICITY","geneSymbols":["AARS1","AASS","ABCA12","ABCD1","ABHD16A","ACER3","ACP5","ACTL6B","ADAR","ADD3","ADGRG1","AFF3","AFG3L2","AIFM1","AIMP1","ALDH18A1","ALDH3A2","ALG3","ALG9","ALS2","AMFR","AMPD2","ANKLE2","AP1S2","AP4B1","AP4E1","AP4M1","AP4S1","AP5Z1","APC2","APOE","ARG1","ARL6IP1","ARSA","ARSI","ARX","ASNS","ATL1","ATN1","ATP13A2","ATP5F1A","ATP5F1D","ATP5F1E","ATP5MC3","ATP5MK","ATP6AP2","ATP6V0A1","ATP6V1A","ATPAF1","ATPAF2","ATRX","ATXN10","AUH","B4GALNT1","BCL11B","BCOR","BICD2","BSCL2","BTD","C19orf12","CACNA1C","CACNA1D","CACNA1E","CAMK2B","CAMLG","CAPN1","CCDC88C","CCT5","CDC40","CLCN4","CLIC2","CLN8","CLTC","CNP","CNPY3","CNTNAP2","COA8","COASY","COG2","COL4A2","COLGALT1","COQ5","COX15","CPT1C","CSF1R","CTNNA2","CTNNB1","CYB5A","CYB5R3","CYP27A1","CYP2U1","CYP7B1","DARS1","DDHD1","DDHD2","DEGS1","DENND5A","DNAJC19","DNM1","DNM1L","DPH5","DSTYK","DTYMK","DYM","DYNC1H1","EARS2","EDNRB","EIF2AK1","EIF2S3","ELOVL1","ELOVL4","ELP2","ENTPD1","ERCC1","ERCC4","ERCC6","ERCC8","ERLIN1","ERLIN2","EXOC2","EXOSC8","FA2H","FAR1","FARS2","FBLN1","FBXO7","FCSK","FLNA","FLRT1","FUCA1","FUS","GALC","GAMT","GAN","GATAD2B","GBA1","GBA2","GBE1","GCDH","GFAP","GFM2","GJA1","GJC2","GLB1","GLRX5","GLYCTK","GM2A","GOT2","GPT2","GRIA4","GRIN1","GSS","GSX2","GTPBP2","GUF1","H4C5","HACE1","HECTD4","HEPACAM","HIKESHI","HMGCL","HPDL","HSD17B10","HSD17B4","HSPD1","HUWE1","IBA57","IDUA","IFIH1","INPP5K","INTS8","KANK1","KARS1","KCNC2","KCNJ6","KCNQ2","KDM5C","KIDINS220","KIF1A","KIF2A","KIF5A","KIF5C","KLC2","KPNA3","KY","L1CAM","L2HGDH","LAMB1","LIAS","LIPT1","LIPT2","LMNB1","LMX1B","LSM11","LYRM7","LYST","MAG","MAN2B1","MARS1","MCOLN1","MECP2","MED13L","MFSD2A","MICOS13","MINPP1","MOCS1","MOCS2","MRE11","MRM2","MRPS22","MT-ATP6","MT-ATP8","MTFMT","MTHFR","MTPAP","MTRFR","NAA10","NALCN","NAXD","NDE1","NDUFA13","NDUFA4","NDUFAF4","NDUFAF5","NEU1","NEXMIF","NFU1","NIPA1","NSRP1","NT5C2","NTRK2","NUP54","NUP62","NUS1","ODC1","OPA1","OPA3","OSTM1","OTUD6B","PAFAH1B1","PAX3","PCDH12","PDHX","PET100","PEX16","PEX3","PGAP1","PHACTR1","PHGDH","PI4KA","PIGA","PLA2G6","PLP1","PNP","PNPLA6","POLG","POLR3GL","PPFIBP1","PPIL1","PPP1R15B","PQBP1","PRDM13","PRDM8","PRNP","PRPS1","PRRT2","PRUNE1","PSAP","PSAT1","PSEN1","PSMC1","RAB18","RAB3GAP1","RAB3GAP2","RANBP2","RARS1","RARS2","REEP1","REEP2","REPS1","RERE","RNASEH2A","RNASEH2B","RNASEH2C","RNF170","RNF220","RNU7-1","RTN2","SACS","SAMHD1","SATB1","SATB2","SCN2A","SCN3A","SDHA","SDHAF1","SDHB","SDHD","SEC31A","SELENOI","SEPSECS","SETX","SHMT2","SHQ1","SIGMAR1","SIX6","SLC16A2","SLC18A2","SLC19A3","SLC1A4","SLC25A15","SLC2A1","SLC30A10","SLC33A1","SLC35A2","SMC1A","SOD1","SOX10","SOX2","SOX4","SPART","SPAST","SPATA5L1","SPG11","SPG21","SPG7","SPTAN1","SPTBN1","SPTLC1","SRPX2","STAMBP","STUB1","STXBP1","SYNE1","SYNJ1","TACO1","TAF1","TANGO2","TBC1D20","TBCD","TBCE","TCEAL1","TECPR2","TFG","THOC2","TMEM222","TMEM63C","TMTC3","TMX2","TNR","TOE1","TPK1","TRAPPC12","TRAPPC4","TREX1","TRMT10A","TSEN15","TTC19","TTR","TUBA1A","TUBB3","TUBG1","UBAP1","UBE4A","UCHL1","UNC80","USP8","VAMP1","VCP","VPS37A","VPS41","VPS53","VWA3B","WARS2","WASHC5","WDR45","WDR45B","WDR48","WDR62","WDR73","WWOX","YIF1B","ZFR","ZFYVE26","ZFYVE27","ZNF668"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_MUSCLE_TISSUE_METABOLITE_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M46373","pmid":"","exactSource":"HP:0034370","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0034370","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MUSCLE_TISSUE_METABOLITE_CONCENTRATION","geneSymbols":["ABHD5","ACTA1","AFG3L2","CACNA1S","CHCHD10","COL12A1","COL25A1","COL6A1","COL6A2","COL6A3","COQ2","COQ8A","COQ9","COX6A2","CPT2","ENO3","GAA","GABRA3","GYG1","GYS1","ISCU","KBTBD13","KCNE3","KCNJ18","KLHL41","MIPEP","MSTO1","MT-TE","MT-TN","MT-TS1","MYH7","MYPN","NDUFA4","NDUFS4","NEB","PDSS2","PFKM","PHKA1","PHKA2","PHKB","PHKG2","PNPLA2","PYGM","SCN4A","SDHA","SELENON","SLC22A5","STAC3","SUCLG1","SURF1","TPM2","TPM3","TRMU","TTN","ZFHX4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_URETHROVESICAL_OCCLUSION":{"collection":"C5:HPO","systematicName":"M46374","pmid":"","exactSource":"HP:0034378","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0034378","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_URETHROVESICAL_OCCLUSION","geneSymbols":["APC2","BNC2","CHRM3","HNRNPH1","IGF2","ITGB4","MID1","NSD1","PLEC","SETD2","SRCAP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ELBOW_CONTRACTURE":{"collection":"C5:HPO","systematicName":"M46375","pmid":"","exactSource":"HP:0034391","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0034391","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELBOW_CONTRACTURE","geneSymbols":["ACTA1","ADGRG6","ALDH18A1","ANO5","ATR","B3GAT3","CAPN3","CHST3","COL12A1","COL25A1","COL6A1","COL6A2","COL6A3","COX11","CPT2","CRLF1","DDR2","DMD","ECEL1","EMD","ERCC1","ERCC6","ERGIC1","ERLIN2","ESCO2","EXTL3","FBN1","FBN2","FBXO28","FDFT1","FHL1","FKBP10","FKRP","FLNA","GJB2","GLDN","GNB2","GNS","HACD1","HS2ST1","IGF2","IL6ST","ITGA7","JAG2","KIF22","KY","LAMA2","LARGE1","LGI4","LIFR","LMNA","LMX1B","MAP3K20","MAP3K7","MEGF10","MUSK","MYH3","MYL1","MYL11","MYL2","NALCN","NEDD4L","NIPBL","P4HTM","PIGA","PIGY","PIK3C2A","PITX1","PLOD1","PLOD2","PLOD3","POR","PSMB8","PSTPIP1","PTDSS1","PYCR1","RARS2","RMRP","RNU4ATAC","RSPO2","RYR3","SCARF2","SCN4A","SCYL2","SELENON","SIK3","SLC25A46","SLC26A2","SLC29A3","SLC39A8","SLC6A9","SNRPB","SPRTN","SRD5A3","SVIL","SYNE1","SYNE2","SYT2","TBX15","TBX3","TFAP2A","TMEM222","TMEM43","TNNT1","TOR1A","TPM2","TPM3","TRPV4","UBA1","UNC80","WNT7A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_TOE_DEFORMITY":{"collection":"C5:HPO","systematicName":"M46376","pmid":"","exactSource":"HP:0034398","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0034398","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TOE_DEFORMITY","geneSymbols":["AARS1","ADCY6","AEBP1","ARX","ASXL1","ATN1","ATP6V1E1","BCOR","BLTP1","BMPER","BPTF","BSCL2","CCDC22","CCDC47","CDC42","CHCHD10","CHP1","CHST11","COA7","CPLX1","CPT1C","CREBBP","CTU2","DCAF8","DDX6","DHCR7","DLK1","EBP","EGR2","EP300","ESCO2","EXT2","EZH2","FBN1","FGFR2","GARS1","GBF1","GDAP1","GDF6","GJA5","GJA8","GLI3","GNB4","HARS1","HNRNPK","HSD17B4","HUWE1","INF2","INTS1","INTS8","ITPR3","KAT6A","KAT8","KIF1B","LMNA","LRSAM1","MAD1L1","MAPK1","MED12","MED25","MEG3","MFN2","MORC2","MPV17","MPZ","MYH8","MYOD1","NDRG1","NEFL","NEK9","NRCAM","OTUD6B","PCGF2","PDXK","PDZD8","PEX7","PHYH","PIEZO2","PLEKHG5","PMP2","PMP22","PPP1R21","PRX","PUF60","RAB11B","RAB3GAP1","RAB3GAP2","RAB7A","REEP1","RSPRY1","RTL1","SACS","SBF2","SETBP1","SF3B4","SH3TC2","SIGMAR1","SIN3A","SLC35A3","SLC35C1","SLC6A9","SMAD4","SNRPN","SOD1","SOX5","SPART","SYT2","TCF4","TELO2","THOC6","TMCO1","TMEM260","TMEM94","TOR1A","TPM2","TRPV4","UBE2A","USP9X","VCP","WIPI2","XYLT2","ZNF407"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_COMMUNICATION":{"collection":"C5:HPO","systematicName":"M47310","pmid":"","exactSource":"HP:0034434","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0034434","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_COMMUNICATION","geneSymbols":["AARS1","AASS","ABCA7","ABHD16A","ACAD8","ACADM","ACADS","ACBD5","ACOX1","ACOX2","ACSF3","ACSL4","ACTB","ACTG1","ACTL6B","ADAM22","ADAMTS2","ADAMTSL2","ADAR","ADARB1","ADAT3","ADCY5","ADD3","ADGRG1","ADGRL1","ADK","ADNP","ADSL","AFF2","AGA","AGO1","AGO2","AGTPBP1","AHDC1","AIFM1","AIMP1","AIMP2","ALDH18A1","ALDH4A1","ALDH5A1","ALDH7A1","ALDOA","ALG11","ALG12","ALG13","ALG14","ALG2","ALMS1","AMER1","AMFR","AMMECR1","AMN","AMPD2","ANK3","ANKRD11","ANKRD17","AP1G1","AP1S2","AP2M1","AP3B2","AP4B1","APC2","APP","ARF1","ARFGEF1","ARFGEF2","ARHGAP29","ARHGEF2","ARHGEF38","ARID1A","ARID1B","ARID2","ARL13B","ARL6","ARMC9","ARPC4","ARV1","ARX","ASH1L","ASPA","ASPM","ASXL1","ASXL2","ASXL3","ATAD3A","ATG7","ATM","ATN1","ATP10A","ATP1A2","ATP1A3","ATP5F1A","ATP5F1D","ATP6AP2","ATP6V0A1","ATP6V0A2","ATP6V1A","ATP6V1E1","ATP9A","ATXN3","AUH","AUTS2","B3GALT6","BAP1","BBS1","BBS9","BCAS3","BCL11B","BCORL1","BCR","BIN1","BLTP1","BMP4","BMPR1B","BPTF","BRAT1","BRCA1","BRF1","BRPF1","BRWD3","BSCL2","BTK","C12orf4","C19orf12","C2CD3","CACNA1A","CACNA1B","CACNA1C","CACNA1E","CACNA1G","CACNA1I","CACNA2D1","CACNA2D2","CAMK2A","CAMK2B","CAMK2G","CAMTA1","CARS1","CARS2","CASK","CASZ1","CBL","CC2D1A","CCDC103","CCDC174","CCDC28B","CCDC39","CCDC40","CCDC47","CCDC65","CCDC88A","CCND2","CCNK","CCNO","CDC42","CDH1","CDK10","CDK13","CDK19","CDKL5","CDKN1C","CDON","CELF2","CENPJ","CEP63","CERS1","CFAP221","CFAP298","CFAP300","CFAP418","CFAP74","CHAMP1","CHD2","CHD3","CHD5","CHD8","CHKA","CHKB","CHMP1A","CHMP2B","CIC","CIT","CKAP2L","CLCN3","CLCN4","CLDN11","CLIC2","CLN5","CLN8","CLP1","CLPB","CLTC","CNKSR2","CNNM2","CNOT1","CNOT2","CNTNAP1","CNTNAP2","COA8","COBLL1","COG1","COG4","COG5","COG6","COG8","COL1A1","COL1A2","COL3A1","COPB1","COX10","COX20","COX7B","CPLX1","CRADD","CRAT","CRBN","CREBBP","CRKL","CSNK2A1","CSPP1","CTBP1","CTCF","CTNNA2","CUBN","CUL3","CUL4B","CUX1","CUX2","CWC27","CWF19L1","CYFIP2","CYLD","DAG1","DALRD3","DARS2","DCC","DCLRE1B","DCPS","DCX","DDX6","DEAF1","DEGS1","DENND5A","DHDDS","DHPS","DHTKD1","DHX30","DISP1","DLG1","DLG3","DLK1","DLL1","DLX4","DMD","DMPK","DNAAF1","DNAAF11","DNAAF2","DNAAF3","DNAAF4","DNAAF5","DNAAF6","DNAH1","DNAH11","DNAH5","DNAH9","DNAI1","DNAI2","DNAJB13","DNAJC12","DNAL1","DNM1","DNM1L","DNMT3A","DOCK3","DOCK6","DOCK7","DOHH","DOLK","DPAGT1","DPF2","DPH5","DPM2","DPP9","DPYD","DPYS","DPYSL5","DRC1","DYM","DYNC1H1","DYNC1I2","DYNC2I2","DYRK1A","EARS2","EBF3","EBP","EED","EEF1A2","EFTUD2","EHMT1","EIF2AK1","EIF2AK2","EIF2S3","EIF3F","EIF4A3","ELP2","EMC1","EMC10","EN1","EP300","ERCC2","ERF","ERLIN2","ERMARD","EXOSC2","EXOSC3","EXOSC5","EXT2","EXTL3","EZH2","FANCF","FAR1","FARS2","FBLN1","FBXL3","FBXO11","FBXO28","FBXW11","FBXW7","FDXR","FGF12","FGF13","FGF8","FGFR1","FIBP","FIG4","FKRP","FKTN","FLCN","FLII","FLNA","FMN2","FMR1","FOCAD","FOXG1","FOXH1","FOXJ1","FOXP1","FOXP2","FOXRED1","FRA10AC1","FRMD4A","FRMPD4","FRRS1L","FTCD","FTSJ1","FZR1","GABBR2","GABRA2","GABRA5","GABRB2","GABRD","GABRG2","GALE","GALNT2","GALT","GAMT","GAS1","GAS2L2","GAS8","GATAD2B","GATM","GCDH","GEMIN4","GEMIN5","GET4","GFM1","GFM2","GJA1","GJA5","GJA8","GJB1","GLB1","GLI2","GLRA2","GLS","GLYCTK","GMNN","GMPPA","GMPPB","GNAI1","GNAI3","GNAO1","GNAS","GNB1","GNB2","GNB5","GNE","GNPTAB","GNS","GOLGA2","GORAB","GOT2","GPAA1","GPC3","GPC4","GPHN","GPT2","GRB10","GRHL3","GRIA1","GRIA2","GRIA3","GRIA4","GRID2","GRIK2","GRIN1","GRIN2A","GRIN2B","GRIN2D","GRM1","GRN","GSX2","GUF1","H3-3A","H4C11","H4C5","HACE1","HCCS","HCN1","HCN4","HDAC4","HDC","HECW2","HEPACAM","HERC1","HERC2","HID1","HIKESHI","HIVEP2","HK1","HMGA2","HNF1B","HNMT","HNRNPA1","HNRNPA2B1","HNRNPH1","HNRNPH2","HNRNPK","HNRNPU","HOXA2","HOXB1","HS2ST1","HS6ST2","HSD17B10","HSPG2","HTT","HUWE1","HYDIN","IARS1","IFIH1","IFT172","IFT27","IFT74","IGF1R","IGF2","INPP5E","INTS1","INTS8","INTU","IQSEC1","IQSEC2","IRAK1","IREB2","IRF2BPL","IRF6","ISCA2","ITPR1","JAG1","JAG2","KANSL1","KARS1","KAT6A","KAT6B","KAT8","KCNA1","KCNA2","KCNA4","KCNAB2","KCNB1","KCNC2","KCNH1","KCNJ10","KCNK4","KCNMA1","KCNN2","KCNQ5","KCNT1","KCTD7","KDM1A","KDM3B","KDM4B","KDM5B","KDM5C","KDM6B","KIAA0586","KIAA0753","KIDINS220","KIF15","KIF1A","KIF4A","KIF5C","KLHL15","KMT2A","KMT2B","KMT2C","KMT2D","KMT2E","KMT5B","KNL1","KPNA3","KPTN","KRAS","KYNU","L1CAM","LAGE3","LAMA1","LARGE1","LAS1L","LEMD3","LHX1","LIG4","LINGO1","LINS1","LIPT2","LMAN2L","LMBRD2","LMNB1","LMNB2","LMX1B","LNPK","LRP5","LRPPRC","LRRC32","LRRC56","LSS","LTBP4","LUZP1","MAB21L1","MACF1","MADD","MAGEL2","MAN2B1","MAN2C1","MAP1B","MAPK1","MAPRE2","MAPT","MARS1","MAST1","MBD5","MBOAT7","MCIDAS","MCM3AP","MCOLN1","MCTP2","MDH2","MECP2","MED12","MED12L","MED13","MED13L","MED23","MED25","MED27","MEF2C","MEG3","MEIS2","MESD","METTL5","MFF","MFSD2A","MFSD8","MICOS13","MICU1","MINPP1","MKRN3","MKS1","MMP23B","MN1","MORC2","MPDU1","MRAS","MRE11","MRPL12","MRPS14","MRPS34","MSL3","MSTO1","MSX1","MT-ATP6","MT-ND1","MT-ND2","MT-ND3","MTFMT","MTHFS","MTPAP","MYO9A","MYT1L","NAA15","NACC1","NAGS","NALCN","NARS1","NAXD","NBEA","NBN","NCAPD2","NCAPG2","NCDN","NDE1","NDN","NDST1","NDUFA1","NDUFA11","NDUFA13","NDUFA4","NDUFA6","NDUFA8","NDUFAF1","NDUFAF2","NDUFAF3","NDUFAF4","NDUFAF5","NDUFAF8","NDUFB10","NDUFB11","NDUFB3","NDUFB9","NDUFC2","NDUFS1","NDUFS2","NDUFS3","NDUFS4","NDUFS6","NDUFS7","NDUFS8","NDUFV1","NDUFV2","NECAP1","NECTIN1","NEDD4L","NEK1","NEK10","NEMF","NEUROD2","NEXMIF","NF1","NFE2L2","NFIB","NFIX","NGLY1","NHLRC2","NIPA1","NIPA2","NIPBL","NLGN3","NLGN4X","NME5","NME8","NODAL","NONO","NOTCH3","NOVA2","NPAP1","NR2F1","NR4A2","NRAS","NSD1","NSDHL","NSRP1","NSUN2","NTNG1","NTNG2","NTRK2","NUBPL","NUDT2","NUP107","NUP54","NUP62","NUS1","NXN","OCA2","ODAD1","ODAD2","ODAD3","ODAD4","ODC1","OFD1","OGDH","OPHN1","ORC6","OSGEP","OTOG","OTUD6B","OXR1","PACS1","PACS2","PAFAH1B1","PAK1","PAK3","PANK2","PARS2","PBX1","PCDH19","PCGF2","PCYT2","PDE2A","PDE4D","PDGFRA","PDPN","PDZD8","PEX1","PGAP1","PGAP2","PGAP3","PGK1","PGM2L1","PHF21A","PHF8","PHKA2","PHKB","PHKG2","PI4KA","PIGA","PIGF","PIGG","PIGM","PIGN","PIGO","PIGP","PIGS","PIGV","PIGW","PIK3R1","PLA2G6","PLAA","PLAG1","PLCB4","PLCH1","PLEC","PLK4","PLP1","PLPBP","PMM2","PMPCA","PMPCB","PNPT1","POGZ","POLA1","POLR1D","POLR3B","POLR3K","POLRMT","POMGNT2","POMT1","POMT2","POR","POT1","POU3F3","POU4F1","PPFIBP1","PPIL1","PPM1D","PPP1CB","PPP2CA","PPP2R1A","PPP2R5D","PPP3CA","PRDM16","PRKAR1B","PRKCZ","PRKD1","PRKRA","PRMT7","PRNP","PRODH","PRPS1","PRR12","PRUNE1","PSEN1","PSEN2","PSMB1","PSMC1","PSMD12","PSMG2","PTCH1","PTEN","PTS","PUF60","PUM1","PURA","PUS3","PUS7","PWAR1","PWRN1","PYCR1","PYCR2","QRICH1","RAB11B","RAB18","RAB3GAP2","RAB5IF","RAC1","RAI1","RALA","RALGAPA1","RARS1","RARS2","REPS1","RERE","RFC1","RFX7","RHOBTB2","RIC1","RIMS2","RLIM","RMND1","RNASET2","RNF113A","RNF125","RNU7-1","ROGDI","RORA","RORB","RPGR","RPL10","RPS6KA3","RRM2B","RRP7A","RSPH1","RSPH3","RSPH4A","RSPH9","RSPRY1","RSRC1","RTL1","RTTN","RUBCN","RUSC2","RYR1","RYR3","SAT1","SATB1","SATB2","SCN1A","SCN3A","SCN4A","SCN8A","SCNM1","SDHA","SDHAF1","SDHB","SDHD","SEC23A","SELENOI","SEMA6B","SERAC1","SET","SETBP1","SETD1A","SETD1B","SETD2","SETD5","SF3B4","SFXN4","SGCB","SH2B1","SHANK3","SHH","SHMT2","SHQ1","SHROOM4","SIAH1","SIK1","SIK3","SIM1","SIN3A","SIX3","SKI","SLC12A2","SLC12A6","SLC13A5","SLC16A2","SLC17A5","SLC1A2","SLC1A3","SLC1A4","SLC25A1","SLC25A12","SLC25A13","SLC25A36","SLC25A42","SLC25A46","SLC2A1","SLC2A3","SLC30A9","SLC33A1","SLC35A2","SLC35B2","SLC35C1","SLC38A3","SLC39A14","SLC44A1","SLC6A1","SLC6A17","SLC6A19","SLC6A3","SLC6A8","SLC9A6","SLC9A7","SLITRK1","SLITRK2","SMAD6","SMARCA2","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SMC1A","SMG9","SMO","SMS","SNAP25","SNORD115-1","SNORD116-1","SNRPN","SNX14","SOBP","SOD1","SORL1","SOX11","SOX4","SOX5","SPAG1","SPARC","SPART","SPATA5","SPEF2","SPEG","SPEN","SPOP","SPP1","SPR","SPRED1","SPTBN1","SPTBN2","SPTBN4","SQSTM1","SRCAP","SRPX2","ST3GAL3","ST3GAL5","STAG1","STAG2","STAT4","STIL","STK36","STRADA","STT3A","STX1B","STXBP1","SUOX","SUPT16H","SVBP","SYNGAP1","SYNJ1","SYT1","SZT2","TAF1","TAF2","TAF8","TANC2","TANGO2","TAOK1","TARS2","TBC1D20","TBC1D23","TBC1D24","TBC1D7","TBCD","TBCE","TBCK","TBK1","TBL1XR1","TBR1","TBX1","TBX4","TCEAL1","TCF20","TCF4","TCTN2","TDGF1","TECR","TELO2","TENM3","TENT5A","TET3","TFE3","TGIF1","TH","THOC2","THOC6","THRB","THUMPD1","TIAM1","TIMM50","TIMMDC1","TINF2","TKFC","TKT","TLK2","TM4SF20","TMCO1","TMEM106B","TMEM126B","TMEM147","TMEM163","TMEM222","TMEM231","TMEM63C","TMEM94","TMLHE","TMTC3","TNIK","TNNT1","TNPO2","TNR","TNRC6B","TOE1","TOGARAM1","TOMM40","TOR1A","TP53RK","TP63","TPK1","TPP1","TPRN","TRAF7","TRAK1","TRAPPC10","TRAPPC11","TRAPPC14","TRAPPC2L","TRAPPC6B","TRAPPC9","TREM2","TREX1","TRIM8","TRIO","TRIP12","TRIP4","TRIT1","TRMT1","TRPM3","TRPV6","TRRAP","TSEN15","TSHR","TSPAN7","TSPOAP1","TTC12","TTC5","TTI2","TTN","TUBA8","TUBB","TUBB2A","TUBB3","TUBB4A","TUBG1","TWIST1","TWIST2","TWNK","UBA2","UBA5","UBB","UBE2A","UBE3A","UBE3B","UBE4A","UBE4B","UBTF","UFC1","UFM1","UFSP2","UGP2","UGT1A1","UNC80","UQCRQ","USP27X","USP7","USP9X","VAC14","VARS1","VCP","VLDLR","VPS11","VPS33A","VPS37A","VPS41","VPS4A","WAC","WARS1","WARS2","WASF1","WASHC4","WDR26","WDR37","WDR4","WDR45","WDR45B","WDR62","WDR73","WDR81","WIPI2","WLS","WWOX","XPR1","XRCC4","XYLT1","YARS1","YIF1B","YME1L1","YWHAG","YY1","ZBTB11","ZBTB18","ZBTB20","ZBTB7A","ZC4H2","ZEB2","ZIC2","ZMIZ1","ZMYM2","ZMYND10","ZMYND11","ZNF142","ZNF292","ZNF407","ZNF462","ZNF711","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_GAMMA_GLUTAMYLTRANSFERASE_LEVEL":{"collection":"C5:HPO","systematicName":"M46377","pmid":"","exactSource":"HP:0034444","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0034444","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_GAMMA_GLUTAMYLTRANSFERASE_LEVEL","geneSymbols":["ABCB4","ALMS1","AP1B1","BCS1L","CNOT1","COG6","DCDC2","DEF6","DZIP1L","FCSK","GGT1","GIMAP5","GPD1","IARS1","KIF12","LIPA","LYRM4","MARS1","MICOS13","MPV17","MRPL3","MYO5B","PEX2","PKD2","PKHD1","SLC25A13","SLC2A1","SLC2A2","SLC37A4","SLC51A","SLC51B","TREX1","TRMT10C","TTC26","UBR1","VPS33B","XK"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_LIVER_METABOLITE_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M47311","pmid":"","exactSource":"HP:0034644","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0034644","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LIVER_METABOLITE_CONCENTRATION","geneSymbols":["ABCG5","ABCG8","ABHD5","ACAD9","ACADM","ACADS","ACADVL","ACOX1","ACSL5","ADK","AGPAT2","AKR1D1","AKT2","ALDOB","ALMS1","APOB","APOE","ARMC5","ATP6AP1","ATP6AP2","ATP7B","BCS1L","BLM","BMP6","BSCL2","CARS2","CASZ1","CAV1","CAVIN1","CBS","CCDC115","CEP19","CIDEC","CLPB","COA8","COX15","CP","CPT1A","CPT2","CYP19A1","CYP7A1","DDOST","DEF6","DGUOK","DHCR7","DNAJC19","DOCK2","DPM1","EARS2","ETFA","ETFB","ETFDH","FARS2","FARSA","FARSB","FBP1","FOCAD","FOS","FTH1","FTL","GABRD","GLRX5","GNAS","GNB2","GPD1","HADH","HADHA","HADHB","HBB","HEPACAM","HMGCL","HNF1B","HNF4A","HNRNPA1","HNRNPA2B1","HSD17B4","HSPG2","IARS1","IFIH1","IFT27","KCNAB2","KMT2B","LARS1","LDLR","LDLRAP1","LIG3","LIPA","LIPE","LMNA","LMNB2","LRPPRC","LUZP1","LYRM4","MARS1","MCCC1","MICOS13","MMP23B","MPV17","MRPL3","MRPL44","MRPS7","MT-TN","MT-TS1","MTTP","MTX2","NAA10","NDUFAF1","NFS1","NGLY1","NHLRC2","NSMCE2","PCK1","PCK2","PCSK9","PDPN","PGM1","PHKA2","PHKB","PHKG2","PIGA","PLIN1","PMM2","PNPLA2","POLD1","POLG","POLG2","POLR3A","PPARG","PRDM16","PRKCZ","PTEN","PTRH2","PYGL","RERE","RINT1","RMND1","RNU7-1","RRM2B","SAR1B","SCO1","SDHA","SKI","SLC11A2","SLC22A5","SLC25A13","SLC25A20","SLC2A2","SLC30A10","SLC37A4","SLC40A1","SLC51B","SLCO1B1","SLCO1B3","SPEN","SPTBN1","STEAP3","SUCLG1","SURF1","TARS2","TBX1","TFAM","TKFC","TMEM199","TRAPPC11","TRMU","TYMP","UBE4B","UNC45A","VCP","VPS33A","VPS4A","XRCC4","YARS1","ZPR1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_KNEE_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M47312","pmid":"","exactSource":"HP:0034669","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0034669","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_KNEE_MORPHOLOGY","geneSymbols":["ACAN","ACTA1","ADNP","AIFM1","ALG14","ALG2","ANAPC1","ANKLE2","ANKRD55","ARF1","ARFGEF2","ARID1B","ARSB","ARSK","ARVCF","ATP6V1E1","ATP7A","ATRX","B3GALT6","B3GAT3","BAG3","BAZ1B","BCL7B","BCOR","BGN","BHLHA9","BICD2","BPNT2","BRAF","BRF1","BUD23","C19orf12","CAMK2A","CANT1","CBFB","CBS","CCN6","CD247","CDC45","CDC6","CDT1","CENPT","CFL2","CHRNB1","CHRNG","CHST11","CHST3","CLCN7","CLIP2","CNTNAP1","COG5","COL10A1","COL11A1","COL12A1","COL1A1","COL1A2","COL25A1","COL2A1","COL5A1","COL5A2","COL6A1","COL6A2","COL6A3","COL9A1","COL9A2","COL9A3","COMP","COMT","COX11","CPT2","CREBBP","CSGALNACT1","CTC1","CTNS","CYP19A1","CYP27B1","CYP2R1","CYP3A4","DDR2","DDRGK1","DHX16","DMD","DMP1","DNAJC30","DNMT3A","DONSON","DPAGT1","DPM1","DYM","DYNC2LI1","EBP","EFL1","EIF2AK3","EIF4H","ELN","EMD","ENPP1","EP300","ERCC1","ERCC6","ERGIC1","ERLIN1","ERLIN2","ERMARD","ESCO2","EVC","EVC2","EXOC6B","EXT1","EXT2","FBN1","FBN2","FDFT1","FGFR3","FHL1","FKBP10","FKBP6","FLNA","FLNB","FN1","FZD2","GALNS","GAN","GDF5","GFPT1","GJB2","GJB6","GLB1","GLI1","GLI3","GMNN","GMPPB","GNB2","GNPTAB","GNPTG","GP1BB","GTF2I","GTF2IRD1","GTF2IRD2","GUSB","H3-3B","HACD1","HBB","HEATR3","HERC2","HIRA","HPGD","HS2ST1","HS6ST1","HSPG2","HYAL1","IARS2","IDH1","IDUA","IFIH1","IFT172","IFT57","IHH","IL2RA","IL2RB","IL6ST","IPO8","ITGA7","JAG2","JMJD1C","KAT6A","KAT6B","KIF22","KIF7","KLHL41","KRAS","KY","LBR","LGI4","LIFR","LIMK1","LMBR1","LMBRD2","LMOD3","LMX1B","LONP1","LTBP1","MAB21L2","MAGEL2","MAN2B1","MAP1B","MAP2K1","MAP2K2","MAP3K20","MAPK8IP3","MATN3","MCTP2","MEGF10","MEGF8","METTL27","MIA3","MKRN3","MLXIPL","MMP13","MMP9","MPZ","MTX2","MYH3","MYL1","MYL11","MYL2","MYO9A","NALCN","NCF1","NDUFAF6","NEB","NEDD4L","NEPRO","NF1","NFATC2","NKX3-2","NLRP3","NOTCH2","NPAP1","NSD1","NT5C2","OCRL","ORC1","ORC4","ORC6","P4HTM","PEPD","PHEX","PI4KA","PIEZO2","PIGA","PIGY","PIK3R2","PITX1","PKDCC","PLOD1","PLOD2","PMP22","POLR3A","POLRMT","PRG4","PRKACA","PRKACB","PRKG2","PRMT7","PSAT1","PSTPIP1","PTDSS1","PTH1R","PTPN2","PTPN22","PUS3","PWAR1","PWRN1","RAB23","RAB33B","RAD21","RBM8A","RECQL4","RFC2","RMRP","RNU4ATAC","RPGRIP1L","RPL10","RPL13","RREB1","RSPRY1","RTTN","RUNX2","RYR1","SCARF2","SCN4A","SCYL2","SDHA","SDHAF1","SDHB","SDHD","SEC24C","SELENON","SERPINH1","SF3B2","SFRP4","SHH","SHOX","SIK3","SKI","SLC10A7","SLC18A3","SLC25A46","SLC26A2","SLC39A8","SLCO2A1","SMAD2","SMAD3","SNAP25","SNORD115-1","SNORD116-1","SOX9","SPART","SPTBN1","SRD5A3","STAT4","STX1A","STXBP1","SVIL","SYT2","TBC1D7","TBL2","TBX1","TBX4","TCTN3","TELO2","TFE3","TGDS","TGFB1","TMEM270","TMTC3","TNFSF11","TONSL","TPM2","TPM3","TRAPPC2","TRIM2","TRIP11","TRPS1","TRPV4","TUBB3","UBA1","UBR7","UFC1","UFD1","UFSP2","UGP2","UNC80","USP9X","VDR","VPS13B","VPS37D","WDR62","WNT7A","XYLT1","YY1","ZBTB20","ZEB2","ZNF699","ZPR1","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_KNEE_PHYSIOLOGY":{"collection":"C5:HPO","systematicName":"M47313","pmid":"","exactSource":"HP:0034670","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0034670","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_KNEE_PHYSIOLOGY","geneSymbols":["ADGRV1","AEBP1","ALDH18A1","ANO5","AP4B1","AP4E1","AP4M1","AP4S1","ASAH1","ATP7A","B3GAT3","B4GALT7","BMP1","BPNT2","CANT1","CDT1","CFL2","CHST3","COL1A1","COL1A2","COL2A1","COL5A1","COL9A3","COMP","CSGALNACT1","CTDP1","DPYSL5","DYM","DYSF","ECEL1","ELN","EXOC6B","EXT1","EXT2","EZH2","FBLN5","FBN1","FBN2","FGD1","FGFR3","FLNA","FLNB","FLNC","GABRA1","GABRD","GABRG2","GPC6","GRIA3","HCN1","HGD","HNRNPH1","HRAS","KRAS","LMX1B","MAN2C1","MAP3K7","MCOLN1","MEFV","MYOT","NRAS","ORC1","PCDH19","PDGFRB","PRR12","PTEN","RYR1","SCN1A","SCN1B","SCN2A","SCN9A","SH3PXD2B","SKI","SLC10A7","SLC35A3","SLC35B2","SLC6A9","STX1B","SYNE1","TNFRSF1A","TOR1A","TRIP11","TTC26","VCP","WASF1","XYLT1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_KNEE_CONTRACTURE":{"collection":"C5:HPO","systematicName":"M47314","pmid":"","exactSource":"HP:0034671","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0034671","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_KNEE_CONTRACTURE","geneSymbols":["ACTA1","ALG14","ALG2","ANKLE2","ATP6V1E1","BAG3","BICD2","C19orf12","CFL2","CHRNB1","CHRNG","CNTNAP1","COL12A1","COL25A1","COL6A1","COL6A2","COL6A3","COX11","CPT2","DDR2","DHX16","DMD","DPAGT1","DPM1","EMD","ERCC1","ERCC6","ERGIC1","ERLIN1","ERLIN2","ESCO2","FBN1","FBN2","FDFT1","FHL1","FKBP10","FLNA","GFPT1","GJB2","GJB6","GLI3","GMPPB","GNB2","GNPTAB","HACD1","HS2ST1","IL6ST","ITGA7","JAG2","KAT6B","KY","LBR","LGI4","LIFR","LMBRD2","LMX1B","MAP3K20","MEGF10","MEGF8","MYH3","MYL1","MYL11","MYL2","MYO9A","NALCN","NEDD4L","NFATC2","NT5C2","PI4KA","PIEZO2","PIGA","PIGY","PIK3R2","PLOD2","PSAT1","PSTPIP1","PTDSS1","PTH1R","RNU4ATAC","RPL10","RTTN","SCARF2","SCN4A","SCYL2","SDHA","SDHAF1","SDHB","SDHD","SELENON","SIK3","SLC18A3","SLC25A46","SLC39A8","SNAP25","SRD5A3","SVIL","SYT2","TELO2","TPM2","TPM3","TRIM2","TRPV4","UBA1","UFC1","UNC80","ZBTB20"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_ANKLE_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M47315","pmid":"","exactSource":"HP:0034673","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0034673","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ANKLE_MORPHOLOGY","geneSymbols":["ACTA1","ADGRV1","ALAD","ANGPT2","ANKRD55","ANO5","APC2","ATP5F1D","C18orf32","C19orf12","CAPN3","CARS1","CD247","CHMP1A","CLCN5","COL10A1","COL12A1","COL25A1","COL6A1","COL6A2","COL6A3","CYP27B1","CYP2R1","DAG1","DDR2","DNMT3A","DPM1","DYRK1A","ERGIC1","ERLIN2","ESCO2","EXT1","EXT2","FIG4","FKBP10","FLNA","FLT4","GABRD","GABRG2","GJC2","HACD1","HCN1","HNRNPH1","IDH1","IL2RA","IL2RB","ITGA7","KLHL9","LGI4","LIFR","MAFB","MAN2B1","MAP3K20","MMP2","MYL2","NEB","NFATC2","NONO","NSD1","NT5C2","ORAI1","PI4KA","PIEZO1","PNPT1","PSAT1","PTPN2","PTPN22","RAB3GAP2","REEP1","RPL10","RTTN","RYR1","SCN1A","SCN1B","SCN2A","SCN9A","SCYL2","SELENON","SETD2","SGCA","SLC1A4","SLC34A3","SPG11","SPTBN4","STAT4","STX1B","SVIL","SYT2","TNNT1","TOR1AIP1","TPM2","TPM3","UBA1","VARS1","VDR"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_ANKLE_PHYSIOLOGY":{"collection":"C5:HPO","systematicName":"M47316","pmid":"","exactSource":"HP:0034674","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0034674","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ANKLE_PHYSIOLOGY","geneSymbols":["AARS1","ABCD1","ADGRG1","ANO10","ATL1","ATP6AP2","CAPN1","CARS1","CCDC88C","CD40LG","COL6A1","COL6A2","COL6A3","COMP","CYP27A1","CYP7B1","ERLIN2","FA2H","FGF13","FLNA","GALC","GBA2","GFM2","GLI3","HTT","KIF1A","KIF1C","KIF5A","KLC2","KPNA3","LMNA","MAP3K7","MARS1","MFN2","NDUFS8","NIPA1","OCA2","PEX16","PI4KA","PIGT","PLA2G6","POU3F4","PSAP","PYCR2","RAB18","REEP1","RTN2","SAMD9L","SELENOI","SLC16A2","SLC1A4","SLC39A14","SLC52A3","SMG9","SOD1","SPART","SPAST","SPG11","SPTBN2","STUB1","SYNE1","TCEAL1","TIMM8A","UBE3A","UCHL1","VAC14","VCP","ZFYVE27","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_TOE_JOINT_CONTRACTURE":{"collection":"C5:HPO","systematicName":"M47317","pmid":"","exactSource":"HP:0034675","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0034675","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TOE_JOINT_CONTRACTURE","geneSymbols":["AMER1","BCOR","CHRNG","DSP","EIF5A","ERCC1","ERLIN2","FBN1","FGFR3","FHL1","FLNA","GLI3","HSPG2","IPO8","JUP","LIFR","MMP2","MYH3","MYL11","NOD2","NT5C2","PHF6","PIEZO2","PIGN","PPP2R5D","PRG4","PSMB8","RYR3","SCARF2","SLC29A3","TBC1D2B","TGFB3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ANKLE_CONTRACTURE":{"collection":"C5:HPO","systematicName":"M47318","pmid":"","exactSource":"HP:0034677","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0034677","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANKLE_CONTRACTURE","geneSymbols":["ACTA1","ALAD","ANO5","APC2","ATP5F1D","C18orf32","C19orf12","CAPN3","COL12A1","COL25A1","COL6A1","COL6A2","COL6A3","DAG1","DDR2","DPM1","DYRK1A","ERGIC1","ERLIN2","ESCO2","FIG4","FKBP10","FLNA","HACD1","ITGA7","KLHL9","LGI4","MAP3K20","MMP2","MYL2","NEB","NFATC2","NSD1","NT5C2","ORAI1","PI4KA","PNPT1","PSAT1","REEP1","RPL10","RTTN","RYR1","SCYL2","SELENON","SETD2","SGCA","SLC1A4","SPG11","SPTBN4","SVIL","SYT2","TNNT1","TOR1AIP1","TPM2","TPM3","UBA1","VARS1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_ENZYME_CONCENTRATION_OR_ACTIVITY":{"collection":"C5:HPO","systematicName":"M47319","pmid":"","exactSource":"HP:0034684","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0034684","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ENZYME_CONCENTRATION_OR_ACTIVITY","geneSymbols":["AASS","ABCB11","ABCB4","ABCC6","ABCD1","ABCD3","ABCD4","ABCG8","ABHD5","ABL1","ACAD9","ACADM","ACADVL","ACOX1","ACOX2","ACSF3","ACSL5","ACVR1","ADA","ADA2","ADAR","ADK","AGL","AGPAT2","AHCY","AIFM1","AKR1D1","ALAD","ALAS2","ALDH2","ALDH4A1","ALDH5A1","ALDOA","ALDOB","ALG11","ALG12","ALG2","ALG3","ALG6","ALG8","ALMS1","ALPL","AMACR","AMPD1","ANO10","AP1B1","AP1S3","APOB","APOE","APRT","ARSA","ARSB","ARSL","ASAH1","ASL","ASPA","ASXL1","ATM","ATP6AP1","ATP6AP2","ATP7B","ATP8B1","ATRX","B3GALNT2","B4GALT1","B4GAT1","BAAT","BCAP31","BCAT2","BCHE","BCR","BCS1L","BGN","BICRA","BMP2","BRCA1","BRCA2","BSCL2","BTD","C18orf32","C1QBP","CA2","CALR","CASR","CAT","CAV3","CAVIN1","CBL","CBLIF","CBS","CC2D2A","CCDC115","CCDC47","CD19","CD46","CD81","CDAN1","CDKN2A","CEACAM3","CEACAM6","CEBPE","CEP164","CFAP418","CFH","CFI","CFTR","CHEK2","CLCA4","CLCN7","CLPB","CNOT1","COG2","COG4","COG5","COG6","COG7","COG8","COL4A1","COLQ","CORIN","COX16","COX5A","CP","CPA1","CPT1A","CPT2","CR2","CRPPA","CSF3R","CSPP1","CTNS","CTRC","CTSA","CYBA","CYBB","CYC1","CYP27A1","CYP27B1","CYP2R1","CYP3A4","CYP7B1","DAG1","DAXX","DCDC2","DCTN4","DDOST","DEF6","DGUOK","DHDDS","DHFR","DLAT","DLD","DMD","DMGDH","DMP1","DNAJC19","DNAJC21","DOCK2","DOLK","DPAGT1","DPM1","DPM2","DPM3","DPYD","DPYS","DYM","DZIP1L","EARS2","EDNRA","EFL1","EIF2AK3","ELMO2","ENO3","ENPP1","ERCC4","ERCC6","ERCC8","ESR1","F5","FADD","FAH","FAM20C","FAN1","FARSA","FARSB","FBP1","FBXL4","FCSK","FGF23","FH","FHL1","FKBP10","FKRP","FKTN","FLI1","FLT1","FOCAD","FOXP3","FTCD","FUCA1","FXN","G6PC1","GAA","GALC","GALE","GALK1","GALM","GALT","GATA1","GATA2","GATM","GBA1","GCDH","GCLC","GDF2","GFM2","GGCX","GGT1","GIMAP5","GLB1","GLRX5","GLYCTK","GNE","GNMT","GNPTAB","GNPTG","GPAA1","GPD1","GPHN","GPI","GPR35","GSS","GSTM3","GUSB","GYS2","HACD1","HADH","HADHA","HADHB","HAGH","HAMP","HBB","HEATR3","HELLPAR","HEXB","HFE","HJV","HLA-B","HLA-DQA1","HLA-DQB1","HLA-DRB1","HMBS","HMGCL","HMGCS2","HMOX1","HNF1B","HNF4A","HNRNPA1","HNRNPA2B1","HPD","HSD17B10","HSD17B4","HSD3B7","HSPG2","IARS1","ICOS","IDS","IER3IP1","IFIH1","IFT172","IKZF1","IL12A","IL12RB1","IL18BP","IL36RN","INPP5E","INPP5K","IRAK1","IRF2BP2","IRF5","JAG1","JAK2","KCNN4","KHK","KIAA0586","KIF12","KIF23","KIT","KLF1","KRAS","KY","LAMB2","LARGE1","LARS1","LBR","LCAT","LCT","LDHA","LDHB","LHX1","LIG3","LIPA","LIPT1","LMBRD1","LPIN1","LRPPRC","LRRK1","LSM11","LYRM4","LYST","MAN2B1","MANBA","MARS1","MCCC2","MCM6","MED12","MGAT2","MICOS13","MICU1","MIF","MLIP","MMAA","MMAB","MMACHC","MMADHC","MMEL1","MOCS1","MOCS2","MOGS","MPDU1","MPI","MPL","MPV17","MRPL3","MRPL44","MRPS16","MRPS2","MRPS28","MS4A1","MST1","MT-ATP6","MT-CO1","MT-CO3","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND5","MT-ND6","MT-TK","MT-TL1","MT-TV","MT-TW","MTHFD1","MTHFR","MTM1","MTR","MTRR","MTTP","MTX2","MVK","MYC","MYH9","MYO5B","NADK2","NBAS","NCF1","NCF2","NFKB1","NFKB2","NFS1","NGLY1","NOS3","NPC1","NPC2","NPR2","NPR3","NR1H4","NSMCE2","NSUN2","OBSCN","OCLN","OCRL","OFD1","OGDH","OPLAH","OTC","OTUD5","PAH","PALB2","PALLD","PCCA","PCCB","PCK1","PEPD","PEX13","PEX14","PEX16","PEX19","PEX2","PEX7","PFKM","PGAP2","PGAP3","PGM1","PHEX","PHGDH","PHKA2","PHKB","PHKG2","PHYH","PIEZO1","PIGA","PIGB","PIGC","PIGF","PIGG","PIGH","PIGK","PIGL","PIGO","PIGQ","PIGS","PIGT","PIGU","PIGV","PIGW","PIGY","PIK3CG","PITRM1","PKD2","PKHD1","PKLR","PLA2G6","PLA2G7","PLEC","PLEKHM1","PLOD1","PMM2","PNPLA2","POLD1","POLG","POLG2","POMGNT1","POMGNT2","POMK","POMT1","POMT2","POU2AF1","PPOX","PRDX1","PRF1","PRIM1","PRKCD","PRKCSH","PRPS1","PRSS1","PRSS2","PSAP","PSMB4","PSMB8","PSMB9","PTH1R","PYGL","RABL3","RACGAP1","RAG1","RAG2","RB1","RBCK1","RHAG","RHCE","RHD","RINT1","RNASEH2A","RNASEH2B","RNASEH2C","RNF220","RNU7-1","RPGRIP1L","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS14","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS7","RRM2B","RUNX1","RXYLT1","SAMHD1","SAR1B","SAT1","SBDS","SC5D","SCO1","SDHD","SEC23B","SECISBP2","SEMA4D","SEMA7A","SERPINA1","SGMS2","SH2B1","SH3BP2","SI","SIK3","SIL1","SLC11A1","SLC19A1","SLC22A5","SLC25A13","SLC25A15","SLC25A20","SLC25A4","SLC26A9","SLC2A1","SLC2A2","SLC30A10","SLC34A1","SLC34A3","SLC35A2","SLC37A4","SLC39A4","SLC4A1","SLC4A2","SLC51A","SLC51B","SLC6A14","SLC7A7","SLC9A3","SLCO1B1","SLCO1B3","SMAD4","SMPD1","SOST","SP110","SPIB","SPINK1","SPP1","SPTBN1","SQSTM1","SRD5A3","SRP54","SRSF2","STAT2","STAT4","STEAP3","STIM1","STOX1","STX11","STX1A","STXBP2","SUCLG1","SUGCT","SUOX","TANGO2","TCF4","TCIRG1","TET2","TFAM","TFR2","TGFB1","TKFC","TMEM165","TMEM199","TMEM67","TNFRSF11A","TNFRSF11B","TNFRSF13B","TNFRSF13C","TNFSF12","TNFSF15","TNPO3","TP53","TRAPPC11","TREH","TREX1","TRMT10C","TRMU","TRPV6","TSR2","TTC26","TULP3","TWNK","TYMP","UBR1","UGT1A1","UMPS","UNC13D","UQCRB","UQCRC2","UROD","USB1","USP18","USP53","VCP","VDR","VIPAS39","VPS13A","VPS33B","VPS50","WARS2","WDR35","WRN","XDH","XK","YARS2","ZNF687","ZNFX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_VASCULITIS_BY_ANATOMICAL_SITE":{"collection":"C5:HPO","systematicName":"M47320","pmid":"","exactSource":"HP:0034784","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0034784","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VASCULITIS_BY_ANATOMICAL_SITE","geneSymbols":["ARPC1B","C1QB","DNASE1L3","DOCK8","HCK","IL12RB1","MEFV","NOD2","PGM3","PNP","POLR3F","SYK","TREX1","WAS"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DIGESTIVE_SYSTEM_NEOPLASM":{"collection":"C5:HPO","systematicName":"M47321","pmid":"","exactSource":"HP:0034930","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0034930","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DIGESTIVE_SYSTEM_NEOPLASM","geneSymbols":["AAGAB","ABCB11","ABCB4","ABCC8","ABCD1","ACD","ACVRL1","ADA2","AHCY","AKT1","APC","APPL1","ARID1A","ARID1B","ARID2","ARSA","ASCC1","ATP2A2","ATP7A","ATP7B","ATRX","AURKA","AXIN1","AXIN2","BAP1","BARD1","BAX","BCL10","BLK","BLM","BMP2","BMP6","BMPR1A","BRAF","BRCA1","BRCA2","BRIP1","BTK","BUB1","BUB1B","BUB3","C1S","CASP10","CASP8","CC2D2A","CCND1","CD19","CD81","CDH1","CDK4","CDKN1A","CDKN1B","CDKN1C","CDKN2A","CDKN2B","CDKN2C","CEL","CEP57","CHEK2","COL14A1","COL4A5","COL4A6","CPOX","CR2","CREBBP","CTHRC1","CTNNB1","DAXX","DCC","DICER1","DIS3L2","DKC1","DLC1","DLEC1","DLK1","DOCK8","DPF2","DZIP1L","ECE1","EDN3","EDNRB","ENG","EP300","EPCAM","ERBB2","ERBB3","F5","FAH","FAN1","FAS","FASLG","FGFR2","FGFR3","FH","FLCN","FOXE1","G6PC1","GATA1","GCGR","GCK","GDF2","GDNF","GIMAP5","GNAS","GPC3","GPC4","GPR35","GREM1","H19","HABP2","HBB","HEATR3","HEPACAM","HFE","HMBS","HNF1A","HNF4A","ICOS","IGF2","IGF2R","IL12A","IL12RB1","IL1B","IL1RN","INPP5E","INS","IRF1","IRF2BP2","IRF5","JAG1","JAK2","KCNJ11","KCNQ1","KCNQ1OT1","KEAP1","KIT","KLF11","KLF6","KLLN","KRAS","KRT5","LMNA","LZTS1","MAD1L1","MBD4","MC1R","MCC","MDM2","MEG3","MEN1","MET","MGMT","MINPP1","MITF","MLH1","MLH3","MMEL1","MPV17","MRE11","MS4A1","MSH2","MSH3","MSH6","MSR1","MST1","MTOR","MUTYH","MYH11","NAB2","NBN","NEUROD1","NF1","NFKB1","NFKB2","NRAS","NRTN","NTHL1","PALB2","PALLD","PAX4","PDE11A","PDGFRA","PDGFRL","PDX1","PHKA2","PHKB","PHKG2","PIEZO2","PIK3CA","PKHD1","PLA2G2A","PMS1","PMS2","POFUT1","POGLUT1","POLD1","POLE","POT1","POU2AF1","POU6F2","PPOX","PRKAR1A","PRKCD","PSAP","PSENEN","PTCH1","PTEN","PTPN12","PTPN3","PTPRJ","PYGL","RABL3","RAD21","RAD50","RAD51","RAD51C","RAD51D","RAD54B","RASGRP1","RELA","REST","RET","RHBDF2","RNF43","RNF6","RPGRIP1L","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS7","RTL1","SDHA","SDHB","SDHC","SDHD","SEC23B","SEMA3C","SEMA3D","SEMA4A","SEMA4D","SERPINA1","SETBP1","SH3KBP1","SKIC2","SKIC3","SLC25A13","SLC2A2","SLC37A4","SMAD4","SMAD7","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SMO","SMPD1","SOX11","SOX4","SPIB","SPRED1","SPRTN","SRC","SREBF1","STAT1","STAT6","STK11","TCF4","TERF2IP","TERT","TGFBR2","TJP2","TLR2","TMEM67","TNFRSF13B","TNFRSF13C","TNFSF12","TNFSF15","TNPO3","TOM1","TP53","TREX1","TRIM28","TRIP13","TSR2","TULP3","UROD","USF3","VHL","WRN","WT1","WWOX","YY1","ZFTA"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CHROMOSOME_BREAKAGE":{"collection":"C5:HPO","systematicName":"M38563","pmid":"","exactSource":"HP:0040012","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0040012","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHROMOSOME_BREAKAGE","geneSymbols":["AKT1","BAP1","BLM","BRCA1","BRCA2","BRIP1","COX4I1","DCLRE1B","DNAJC21","ERCC4","FANCA","FANCC","FANCD2","FANCE","FANCF","FANCI","FANCL","FMR1","MAD2L2","MCM4","NF2","PALB2","PDGFB","PIK3CA","RAD50","RAD51","RAD51C","RNF168","SLX4","SMARCB1","SMARCE1","SMO","SUFU","TERT","TMEM185A","TRAF7","UBE2T","XRCC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PROMINENT_COCCYX":{"collection":"C5:HPO","systematicName":"M38564","pmid":"","exactSource":"HP:0040016","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0040016","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROMINENT_COCCYX","geneSymbols":["COLEC10","COLEC11","MASP1","SH3PXD2B","TAF1","TBX15"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FINGER_CLINODACTYLY":{"collection":"C5:HPO","systematicName":"M38565","pmid":"","exactSource":"HP:0040019","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0040019","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FINGER_CLINODACTYLY","geneSymbols":["ABCC8","ABL1","ACVR1","ADNP","AFF2","AGO2","AKT1","ALDH1A2","ALG12","ALX1","ALX3","AMER1","AMMECR1","ANKRD11","AP1G1","ARID1B","ATG7","ATP2B1","ATP6V1B2","ATR","ATRIP","ATRX","AUTS2","B3GLCT","BAZ1B","BCL7B","BCOR","BCR","BHLHA9","BLM","BMP2","BMP4","BMPR1B","BPTF","BRAF","BRAT1","BRCA1","BRCA2","BRD4","BRF1","BRIP1","BUB1","BUB1B","BUB3","BUD23","CANT1","CASZ1","CBL","CCDC22","CCDC32","CCDC47","CCDC8","CCNK","CCNQ","CD96","CDC45","CDC6","CDH11","CDKN1C","CDT1","CENPE","CENPJ","CEP152","CEP55","CEP57","CHD7","CHRNA7","CHSY1","CITED2","CKAP2L","CLCN3","CLIP2","CNOT2","CNOT3","COG5","COG8","COL11A1","COL27A1","CPLANE1","CREBBP","CRKL","CSGALNACT1","CSNK2A1","CTCF","CUL4B","CUL7","DACT1","DDX11","DEAF1","DHPS","DLK1","DLX3","DNA2","DNAJC30","DONSON","DPAGT1","DPF2","DSP","DVL1","DVL3","DYM","EFNB1","EIF4A3","EIF4H","ELN","EMG1","EP300","EPB41L1","ERCC4","ESCO2","EVC","EVC2","EXT2","FAM149B1","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FGD1","FGF16","FGFR2","FGFR3","FKBP6","FLII","FLNB","FLT4","FOXP2","FRA10AC1","FZD2","GABRD","GATA4","GATA5","GATA6","GDF1","GDF5","GJA1","GJA5","GJA8","GMNN","GNB2","GPC3","GPC4","GRB10","GTF2I","GTF2IRD1","GTF2IRD2","H19","H3-3B","H4C3","HDAC4","HDAC8","HEATR3","HIC1","HMGA2","HNRNPH1","HNRNPK","HNRNPR","HOXA11","HOXA13","HOXD13","HSPG2","IFT122","IFT140","IFT43","IFT52","IGF1","IGF2","IHH","IQSEC2","IRX5","JAG1","JUP","KAT6B","KAT8","KCNAB2","KCNJ11","KCNJ2","KCNK4","KCTD1","KDM1A","KDM4B","KDM6B","KDR","KIAA0753","KIF7","KIFBP","KLF13","KMT2A","KMT2B","KNSTRN","KPTN","KRAS","L1CAM","LEMD3","LIG4","LIMK1","LMNA","LMNB2","LMX1B","LTBP1","LUZP1","LZTR1","MACROH2A1","MAD2L2","MAF","MAN1B1","MAP1B","MAP3K7","MAPK1","MAPK8IP3","MAPRE2","MASP1","MBD5","MCTP2","MECOM","MECP2","MED12","MEF2C","MEG3","MEGF8","METTL27","MIA3","MITF","MLXIPL","MMP23B","MRAS","MYCN","MYL11","NAA10","NAA20","NARS2","NCF1","NEDD4L","NEK1","NEXMIF","NFIX","NIN","NIPBL","NKX2-5","NKX2-6","NOG","NONO","NPR2","NRAS","NSD2","NSUN2","NUP37","NUP85","NXN","OBSL1","ODC1","OFD1","OGT","ORC1","ORC4","ORC6","PACS1","PACS2","PAFAH1B1","PAICS","PALB2","PCNT","PDE6D","PDPN","PHF21A","PHIP","PIEZO2","PIGH","PIGL","PIGN","PIGS","PIGY","PIK3CD","PITX1","PKDCC","PLAG1","PLK4","PLXND1","PNPLA6","POLA1","PPP2R1A","PQBP1","PRDM16","PRKACB","PRKCZ","PRR12","PTEN","PTH1R","PTPN11","PUF60","QRICH1","RAB11B","RAB18","RAB23","RAD21","RAD51","RAD51C","RAF1","RAI1","RASA2","RB1","RBBP8","RBM8A","RERE","REV3L","RFC2","RFWD3","RIT1","RNF216","RNU4ATAC","ROR2","RPL10","RRAS","RRAS2","RSPRY1","RTL1","RUNX2","SALL1","SATB2","SEMA3E","SH3PXD2B","SHANK3","SHOX","SIAH1","SIK3","SIN3A","SKI","SLC2A10","SLC9A7","SLX4","SMARCA2","SMC1A","SMC3","SMOC1","SNRPB","SNRPN","SOS1","SOS2","SOX4","SOX6","SPECC1L","SPEN","SPOP","SPRED1","SPRED2","SRCAP","STAG1","STAG2","STX1A","TBC1D24","TBL2","TBX1","TBX15","TBX4","TBX5","TCF20","TCF4","TCTN3","TELO2","TFAP2A","TFAP2B","TGDS","TMEM147","TMEM216","TMEM270","TOPORS","TP63","TPR","TRAIP","TRAPPC9","TRIO","TRIP13","TRPM3","TRPS1","TRPV4","TRRAP","TWIST1","TWIST2","UBA2","UBE2T","UBE3A","UBE3B","UBE4B","UBR1","USP7","VPS13B","VPS37D","WDR11","WDR19","WDR35","WDR4","WIPI2","WNT5A","XRCC2","XRCC4","XYLT1","YWHAE","YY1AP1","ZC4H2","ZFPM2","ZMYM2","ZNF292","ZNF462"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CLINODACTYLY_OF_THE_2ND_FINGER":{"collection":"C5:HPO","systematicName":"M41600","pmid":"","exactSource":"HP:0040022","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0040022","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CLINODACTYLY_OF_THE_2ND_FINGER","geneSymbols":["CHSY1","CSGALNACT1","FOXP2","HNRNPR","IFT140","KNSTRN","MED12","PIK3CD"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CLINODACTYLY_OF_THE_3RD_FINGER":{"collection":"C5:HPO","systematicName":"M41601","pmid":"","exactSource":"HP:0040024","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0040024","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CLINODACTYLY_OF_THE_3RD_FINGER","geneSymbols":["DLK1","KNSTRN","MEG3","PIK3CD","PKDCC","RTL1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CHORIORETINAL_HYPOPIGMENTATION":{"collection":"C5:HPO","systematicName":"M41603","pmid":"","exactSource":"HP:0040030","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0040030","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHORIORETINAL_HYPOPIGMENTATION","geneSymbols":["DCT","IFNG","MAGEL2","PAX6","SIM1","SLC25A15","TSC1","TSC2","VPS33A","WT1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_FOURTH_METATARSAL_BONE":{"collection":"C5:HPO","systematicName":"M47322","pmid":"","exactSource":"HP:0040035","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0040035","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_FOURTH_METATARSAL_BONE","geneSymbols":["CDC42BPB","DCHS1","EZH2","FAT4","HDAC4","HEPHL1","LZTFL1","PEX7","PHYH","PIGS","PRMT7","RSPRY1","TCF4","ZNF407"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ONYCHOGRYPOSIS_OF_FINGERNAIL":{"collection":"C5:HPO","systematicName":"M41604","pmid":"","exactSource":"HP:0040036","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0040036","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ONYCHOGRYPOSIS_OF_FINGERNAIL","geneSymbols":["COL7A1","DVL1","DVL3","FZD2","KRT16","KRT17","KRT6A","KRT6B","WNT5A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_HEMIDIAPHRAGM_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M43563","pmid":"","exactSource":"HP:0040045","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0040045","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_HEMIDIAPHRAGM_MORPHOLOGY","geneSymbols":["ALDH1A2","CDC42BPB","GATA6","GNE","NDUFAF5","NR2F2","WT1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_LEFT_HEMIDIAPHRAGM_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M46379","pmid":"","exactSource":"HP:0040046","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0040046","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LEFT_HEMIDIAPHRAGM_MORPHOLOGY","geneSymbols":["ALDH1A2","GATA6","NDUFAF5","NR2F2","WT1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MACULAR_EDEMA":{"collection":"C5:HPO","systematicName":"M46380","pmid":"","exactSource":"HP:0040049","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0040049","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MACULAR_EDEMA","geneSymbols":["ARHGEF18","ARL3","CCND1","CTNNB1","CYP4V2","DHDDS","FZD4","HLA-A","IDH3A","KIAA1549","KLHL7","LRP5","MFRP","NDP","NOD2","NR2E3","NRL","PDE6G","POMGNT1","PRPF31","PRPF8","PRPH2","RDH5","REEP6","RHO","RLBP1","RP1L1","RP9","TREX1","TSPAN12","VHL","ZNF408"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_LOWER_EYELASHES":{"collection":"C5:HPO","systematicName":"M46381","pmid":"","exactSource":"HP:0040052","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0040052","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_LOWER_EYELASHES","geneSymbols":["GJA5","GJA8","SF3B4","TCOF1","TWIST2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DECREASED_ADIPOSE_TISSUE":{"collection":"C5:HPO","systematicName":"M38566","pmid":"","exactSource":"HP:0040063","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0040063","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_ADIPOSE_TISSUE","geneSymbols":["AARS1","AGPAT2","ATP6V1A","ATP6V1E1","BLM","BSCL2","CARS1","CAV1","CAVIN1","CIDEC","ERCC2","ERCC3","ERCC4","ERCC6","ERCC8","FBN1","FH","FOS","GNB2","GTF2E2","GTF2H5","H4C5","IGF1R","INSR","KCNJ6","KCNK9","LEMD2","LIPE","LMNA","LMNB2","MPLKIP","NAA10","PIK3R1","PLIN1","POLD1","POLR3A","PPARG","PRIM1","PSMB8","PTF1A","RBM28","RNF113A","SKI","SLC25A24","SLC2A2","SOX18","TARS1","TGFB1","TGFB3","TOP3A","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_LIMB_BONE":{"collection":"C5:HPO","systematicName":"M47323","pmid":"","exactSource":"HP:0040068","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0040068","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_LIMB_BONE","geneSymbols":["AARS1","ABCA12","ABCA3","ABCC8","ABCC9","ABCD1","ABL1","ACAN","ACOX1","ACP5","ACSL4","ACTA1","ACTA2","ACTB","ACTG1","ACTG2","ACTL6B","ACVR1","ACVRL1","ADA","ADA2","ADAMTS10","ADAMTS17","ADAMTS2","ADAMTS3","ADAMTSL1","ADAMTSL2","ADAT3","ADCY6","ADGRG6","ADGRV1","ADH5","ADNP","AEBP1","AFF2","AFF3","AFF4","AGA","AGO2","AGPS","AHI1","AHSG","AIFM1","AIP","AKT1","AKT3","ALDH18A1","ALDH1A2","ALDH6A1","ALG12","ALG13","ALG14","ALG3","ALG6","ALG8","ALG9","ALMS1","ALOX12B","ALOXE3","ALPL","ALX1","ALX3","ALX4","AMER1","AMMECR1","ANAPC1","ANKH","ANKLE2","ANKRD11","ANKRD55","ANO5","ANTXR1","ANTXR2","AP1G1","AP2M1","AP4M1","APC","APC2","ARCN1","ARHGAP31","ARHGEF2","ARID1A","ARID1B","ARID2","ARL13B","ARL3","ARL6","ARL6IP6","ARMC9","ARPC4","ARSB","ARSK","ARSL","ARVCF","ARX","ASAH1","ASPH","ASPN","ASXL1","ASXL2","ASXL3","ATAD1","ATG7","ATL3","ATN1","ATP11A","ATP13A2","ATP2B1","ATP6AP2","ATP6V0A2","ATP6V1B2","ATP6V1E1","ATP7A","ATP9A","ATPAF2","ATR","ATRIP","ATRX","AUTS2","B2M","B3GALNT2","B3GALT6","B3GAT3","B3GLCT","B4GALT7","B4GAT1","B9D1","B9D2","BANF1","BAP1","BAZ1B","BBIP1","BBS1","BBS10","BBS12","BBS2","BBS4","BBS5","BBS7","BBS9","BCL7B","BCOR","BCORL1","BCR","BGN","BHLHA9","BICD2","BICRA","BIN1","BLM","BLTP1","BMP1","BMP15","BMP2","BMP4","BMP6","BMPER","BMPR1A","BMPR1B","BMS1","BNC1","BPNT2","BPTF","BRAF","BRAT1","BRCA1","BRCA2","BRD4","BRF1","BRIP1","BSCL2","BTNL2","BTRC","BUB1","BUB1B","BUB3","BUD23","C12orf57","C1R","C2CD3","CA2","CACNA1C","CACNA1G","CACNA2D1","CAMK2A","CAMK2G","CAMSAP1","CAMTA1","CANT1","CAPN3","CARS1","CASK","CASR","CASZ1","CBFB","CBL","CBS","CBY1","CC2D2A","CCBE1","CCDC103","CCDC134","CCDC22","CCDC28B","CCDC32","CCDC39","CCDC40","CCDC47","CCDC65","CCDC8","CCDC88A","CCN6","CCND2","CCNK","CCNO","CCNQ","CD244","CD247","CD55","CD96","CDAN1","CDC42","CDC42BPB","CDC45","CDC6","CDCA7","CDH1","CDH11","CDH3","CDIN1","CDK10","CDK13","CDKL5","CDKN1C","CDT1","CENPE","CENPF","CENPJ","CENPT","CEP104","CEP120","CEP152","CEP164","CEP19","CEP290","CEP41","CEP55","CEP57","CERT1","CFAP221","CFAP298","CFAP300","CFAP410","CFAP418","CFAP74","CFL2","CFTR","CHCHD10","CHD1","CHD2","CHD4","CHD7","CHEK2","CHN1","CHP1","CHRNA1","CHRNA7","CHRND","CHRNG","CHST11","CHST14","CHST3","CHSY1","CHUK","CIBAR1","CIC","CIITA","CILK1","CITED2","CKAP2L","CLCF1","CLCN3","CLCN5","CLCN7","CLIC2","CLIP2","CLP1","CLTCL1","CNOT1","CNOT2","CNOT3","CNTN1","CNTNAP1","CNTNAP2","COA7","COASY","COG1","COG4","COG5","COG6","COG7","COG8","COL10A1","COL11A1","COL11A2","COL12A1","COL1A1","COL1A2","COL25A1","COL27A1","COL2A1","COL3A1","COL4A1","COL5A1","COL5A2","COL6A1","COL6A2","COL6A3","COL9A1","COL9A2","COL9A3","COLEC10","COLEC11","COMP","COMT","COPB1","COX4I1","COX7B","CPLANE1","CPLX1","CPT1C","CPT2","CRB2","CREB3L1","CREBBP","CRIPT","CRKL","CRLF1","CRPPA","CRTAP","CSF1R","CSGALNACT1","CSNK2A1","CSPP1","CTBP1","CTC1","CTCF","CTDP1","CTNNB1","CTNND1","CTNND2","CTNS","CTSC","CTSD","CTSK","CTU2","CUL3","CUL4B","CUL7","CWC27","CWF19L1","CYP19A1","CYP26B1","CYP27A1","CYP27B1","CYP2R1","CYP3A4","DACT1","DAG1","DBH","DCAF8","DCHS1","DCLRE1C","DCPS","DDR2","DDRGK1","DDX11","DDX3X","DDX59","DDX6","DEAF1","DHCR24","DHCR7","DHODH","DHPS","DHX30","DKC1","DLEC1","DLG4","DLK1","DLL3","DLL4","DLX3","DLX5","DLX6","DMP1","DMXL2","DNA2","DNAAF1","DNAAF11","DNAAF2","DNAAF3","DNAAF4","DNAAF5","DNAAF6","DNAH1","DNAH11","DNAH5","DNAH9","DNAI1","DNAI2","DNAJB13","DNAJC21","DNAJC30","DNAL1","DNM1L","DNMT3A","DOCK3","DOCK6","DOK7","DONSON","DPAGT1","DPF2","DPH1","DPH2","DPH5","DPM1","DPP9","DPYS","DPYSL5","DRC1","DSE","DSP","DUOX2","DUOXA2","DVL1","DVL3","DYM","DYNC1H1","DYNC2H1","DYNC2I1","DYNC2I2","DYNC2LI1","DYNLT2B","DYRK1A","EBF3","EBP","ECE1","ECEL1","EDA","EDA2R","EDN3","EDNRB","EED","EFEMP2","EFL1","EFNB1","EFTUD2","EGR2","EHHADH","EHMT1","EIF2AK3","EIF2AK4","EIF2S3","EIF4A3","EIF4H","EIF5A","ELN","EMC1","EMG1","EN1","ENG","ENPP1","EOGT","EP300","EPB41L1","EPS15L1","ERBB2","ERBB3","ERCC1","ERCC2","ERCC3","ERCC4","ERCC5","ERCC6","ERCC8","ERF","ERGIC1","ERLIN2","ERMARD","ESCO2","EVC","EVC2","EXOC6B","EXOC7","EXOSC2","EXOSC5","EXOSC9","EXT1","EXT2","EXTL3","EZH2","FAM111A","FAM13A","FAM149B1","FAM20C","FAM50A","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FARSA","FAT4","FBLN1","FBLN5","FBN1","FBN2","FBXL3","FBXL4","FBXO11","FBXO28","FBXW11","FBXW4","FCGR2A","FDFT1","FERMT1","FGD1","FGF10","FGF16","FGF23","FGF9","FGFR1","FGFR2","FGFR3","FGFRL1","FHL1","FIBP","FIG4","FKBP10","FKBP6","FKRP","FKTN","FLI1","FLII","FLNA","FLNB","FLT4","FLVCR1","FMR1","FN1","FOXA2","FOXE3","FOXJ1","FOXP1","FOXP2","FRA10AC1","FRAS1","FREM1","FREM2","FSHR","FTO","FTSJ1","FUCA1","FZD2","G6PC3","GABBR2","GABRA1","GABRA3","GABRD","GABRG2","GALNS","GALNT2","GAN","GARS1","GAS2L2","GAS8","GATA1","GATA2","GATA4","GATA5","GATA6","GATAD2B","GBA1","GBF1","GCH1","GDAP1","GDF1","GDF5","GDF6","GDNF","GFM2","GGCX","GH1","GHR","GJA1","GJA5","GJA8","GJB2","GJB3","GJB4","GJB6","GLA","GLB1","GLDN","GLE1","GLI1","GLI2","GLI3","GLMN","GMNN","GNA11","GNAI1","GNAO1","GNAS","GNAS-AS1","GNB1","GNB2","GNB4","GNE","GNPAT","GNPTAB","GNPTG","GON7","GORAB","GP1BB","GPC3","GPC4","GPC6","GPKOW","GPR101","GPX4","GRB10","GRIN1","GRIP1","GRM7","GSC","GTF2E2","GTF2H5","GTF2I","GTF2IRD1","GTF2IRD2","GUSB","H19","H3-3A","H3-3B","H4C3","H4C5","H4C9","HACD1","HADHA","HADHB","HARS1","HBA1","HBA2","HBB","HCN1","HDAC4","HDAC6","HDAC8","HEATR3","HECTD4","HEPACAM","HEPHL1","HERC1","HERC2","HES7","HESX1","HEY2","HFE","HHAT","HIC1","HINT1","HIRA","HIVEP2","HLA-DRB1","HMGA2","HNRNPA1","HNRNPH1","HNRNPH2","HNRNPK","HNRNPR","HOXA11","HOXA13","HOXD10","HOXD13","HPGD","HRAS","HS2ST1","HS6ST1","HSD17B4","HSPA9","HSPB1","HSPB8","HSPG2","HTT","HUWE1","HYAL1","HYDIN","HYLS1","HYOU1","IARS1","IARS2","IDH1","IDH2","IDS","IDUA","IFIH1","IFITM5","IFNGR1","IFT122","IFT140","IFT172","IFT27","IFT43","IFT52","IFT57","IFT74","IFT80","IFT81","IGF1","IGF1R","IGF2","IGHMBP2","IHH","IKBKG","IL10","IL11RA","IL21","IL2RA","IL2RB","IL2RG","IL6ST","IL7R","IMPDH2","INF2","INPP5E","INPP5K","INPPL1","INSR","INTS1","INTS8","INTU","IPO8","IQCE","IQSEC2","IRF6","IRX5","ITCH","ITGA7","ITGB4","ITGB6","ITPR3","IYD","JAG1","JARID2","JMJD1C","JPH1","JUP","KANSL1","KAT6A","KAT6B","KAT8","KATNB1","KATNIP","KCNA1","KCNAB2","KCNE5","KCNH1","KCNJ11","KCNJ2","KCNJ5","KCNJ8","KCNK4","KCNK9","KCNMA1","KCNN3","KCTD1","KDELR2","KDM1A","KDM4B","KDM5B","KDM5C","KDM6A","KDM6B","KDR","KDSR","KIAA0586","KIAA0753","KIAA0825","KIF14","KIF15","KIF1A","KIF1B","KIF21A","KIF22","KIF26A","KIF3B","KIF5C","KIF7","KIFBP","KL","KLF13","KLHL15","KLHL40","KLHL41","KLLN","KMT2A","KMT2B","KMT2C","KMT2D","KMT2E","KMT5B","KNSTRN","KPTN","KRAS","KRT1","KRT10","KRT14","KRT16","KRT9","L1CAM","LAGE3","LAMA3","LAMA5","LAMB3","LAMC2","LARGE1","LARS1","LAS1L","LBR","LEMD2","LEMD3","LETM1","LFNG","LHX3","LHX4","LIFR","LIG4","LIMK1","LMBR1","LMNA","LMNB2","LMOD3","LMX1B","LONP1","LOX","LPIN2","LRBA","LRP4","LRP5","LRRC56","LRRK1","LRSAM1","LSS","LTBP1","LTBP2","LTBP3","LTBP4","LUZP1","LYSET","LZTFL1","LZTR1","MAB21L2","MACROH2A1","MAD1L1","MAD2L2","MADD","MAF","MAFB","MAGEL2","MALT1","MAN1B1","MAN2B1","MAN2C1","MAP1B","MAP2K1","MAP2K2","MAP3K20","MAP3K7","MAPK1","MAPK8IP3","MAPKAPK5","MAPRE2","MARS1","MARS2","MASP1","MAT2A","MATN3","MBD5","MBTPS1","MBTPS2","MCIDAS","MCM3AP","MCTP2","MECOM","MECP2","MED12","MED12L","MED13L","MED25","MEF2C","MEG3","MEGF10","MEGF8","MEIS2","MESP2","MET","METTL27","MFAP5","MFN2","MGAT2","MGP","MIA3","MID2","MIR140","MIR17HG","MITF","MKKS","MKRN3","MKS1","MLXIPL","MMP13","MMP14","MMP2","MMP23B","MMP9","MOGS","MORC2","MPLKIP","MPV17","MPZ","MRAS","MRPS16","MRPS22","MRPS28","MSH4","MSL3","MSX2","MTAP","MTFMT","MTHFS","MTM1","MTOR","MTRR","MTX2","MUC5B","MUSK","MYBPC1","MYCN","MYH11","MYH3","MYH8","MYL11","MYL2","MYLK","MYMK","MYMX","MYOD1","MYRF","MYSM1","NAA10","NAA20","NALCN","NANS","NARS1","NARS2","NBAS","NBN","NCAPG2","NCF1","NCKAP1L","NDE1","NDN","NDRG1","NDUFAF6","NEB","NECTIN1","NECTIN4","NEDD4L","NEFL","NEK1","NEK10","NEK8","NEK9","NELFA","NEPRO","NEU1","NEUROD2","NEXMIF","NF1","NFASC","NFIX","NFKBIL1","NGLY1","NHP2","NHS","NIN","NIPBL","NKAP","NKX2-5","NKX2-6","NKX3-2","NLRP1","NLRP3","NME5","NME8","NOD2","NOG","NONO","NOP10","NOTCH1","NOTCH2","NOTCH3","NPAP1","NPHP1","NPHP3","NPM1","NPR2","NPR3","NR2F1","NR4A2","NR5A1","NRAS","NRCAM","NRTN","NSD1","NSD2","NSDHL","NSMCE2","NSMF","NSUN2","NT5C2","NTNG1","NUP107","NUP133","NUP188","NUP37","NUP85","NUP88","NXN","OBSL1","OCA2","OCRL","ODAD1","ODAD2","ODAD3","ODAD4","ODC1","OFD1","OGT","OPA3","ORC1","ORC4","ORC6","OSGEP","OSTM1","OTUD5","OTUD6B","OTX2","P3H1","P4HB","P4HTM","PACS1","PACS2","PAFAH1B1","PAH","PAICS","PAK3","PALB2","PAM16","PAPPA2","PAPSS2","PARN","PAX1","PAX3","PCDH19","PCDHGC4","PCGF2","PCNT","PCYT1A","PDE3A","PDE4D","PDE6D","PDGFRB","PDPN","PDXK","PDZD8","PEPD","PEX1","PEX2","PEX5","PEX6","PEX7","PGAP2","PGAP3","PGM3","PHEX","PHF21A","PHF6","PHF8","PHGDH","PHIP","PHOX2A","PHYH","PI4KA","PIBF1","PIEZO2","PIGA","PIGB","PIGF","PIGG","PIGH","PIGK","PIGL","PIGN","PIGO","PIGP","PIGQ","PIGS","PIGT","PIGV","PIGW","PIGY","PIK3C2A","PIK3CA","PIK3CD","PIK3R1","PIK3R2","PISD","PITX1","PKDCC","PLAA","PLAG1","PLCB3","PLEC","PLEKHG5","PLEKHM1","PLK4","PLOD1","PLOD2","PLOD3","PLXND1","PMM2","PMP2","PMP22","PNKP","PNPLA6","POC1A","POGZ","POLA1","POLE","POLR1A","POLR3A","POLR3GL","POLR3H","POLRMT","POMGNT1","POMGNT2","POMK","POMP","POMT1","POMT2","POP1","POR","PORCN","POU1F1","PPIB","PPM1D","PPP1CB","PPP1R12A","PPP1R15B","PPP1R21","PPP2R1A","PPP2R3C","PPP2R5D","PPP3CA","PQBP1","PRDM16","PRDM5","PRG4","PRIM1","PRKACA","PRKACB","PRKAR1A","PRKAR1B","PRKCZ","PRKD1","PRKDC","PRKG1","PRKG2","PRMT7","PROKR2","PROP1","PRR12","PRX","PSAP","PSAT1","PSMB4","PSMB8","PSMB9","PSMC3IP","PSMD12","PTCH1","PTCH2","PTDSS1","PTEN","PTF1A","PTH1R","PTHLH","PTPN11","PTPN2","PTPN22","PTRH2","PUF60","PUM1","PURA","PUS3","PWAR1","PWRN1","PYCR1","PYCR2","PYROXD1","QRICH1","RAB11B","RAB18","RAB23","RAB33B","RAB3GAP1","RAB3GAP2","RAB7A","RAC1","RAC3","RAD21","RAD51","RAD51C","RAF1","RAG1","RAG2","RAI1","RALA","RAPSN","RASA1","RASA2","RASGRP1","RB1","RBBP8","RBM10","RBM8A","RBPJ","RDH11","RECQL","RECQL4","REEP1","RELN","RERE","RET","RETREG1","REV3L","RFC2","RFT1","RFWD3","RFX7","RHBDF2","RHOA","RIGI","RIN2","RINT1","RIPK4","RIPPLY2","RIT1","RLIM","RMRP","RNF113A","RNF13","RNF2","RNF216","RNF6","RNU12","RNU4ATAC","ROBO1","ROR2","RPGR","RPGRIP1","RPGRIP1L","RPL10","RPL11","RPL13","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS23","RPS24","RPS26","RPS27","RPS28","RPS29","RPS6KA3","RPS7","RRAS","RRAS2","RREB1","RSPH1","RSPH3","RSPH4A","RSPH9","RSPO2","RSPRY1","RTEL1","RTL1","RTTN","RUNX2","RUSC2","RXYLT1","RYR1","RYR3","SACS","SALL1","SALL4","SAMD9","SATB1","SATB2","SBDS","SBF1","SBF2","SC5D","SCAPER","SCARF2","SCLT1","SCN1A","SCN1B","SCN2A","SCN4A","SCN9A","SCNM1","SCNN1A","SCNN1B","SCNN1G","SCUBE3","SCYL2","SDCCAG8","SDHB","SDHC","SDHD","SEC23B","SEC24C","SEC24D","SELENON","SEM1","SEMA3C","SEMA3D","SEMA3E","SEMA5A","SERPINF1","SERPINH1","SETBP1","SETD1B","SETD2","SETD5","SF3B2","SF3B4","SFRP4","SFTPA1","SFTPA2","SFTPB","SFTPC","SGMS2","SH2B1","SH3PXD2B","SH3TC2","SHANK3","SHH","SHMT2","SHOC2","SHOX","SIAH1","SIGMAR1","SIK1","SIK3","SIL1","SIM1","SIN3A","SIN3B","SKI","SKIC3","SLC10A7","SLC12A2","SLC12A6","SLC16A2","SLC17A5","SLC18A3","SLC22A4","SLC25A12","SLC25A22","SLC25A24","SLC25A46","SLC26A2","SLC29A3","SLC2A1","SLC2A10","SLC2A2","SLC31A1","SLC32A1","SLC34A1","SLC34A2","SLC34A3","SLC35A1","SLC35A2","SLC35A3","SLC35B2","SLC35C1","SLC35D1","SLC39A13","SLC39A8","SLC52A2","SLC5A5","SLC5A6","SLC6A1","SLC6A17","SLC6A9","SLC9A6","SLC9A7","SLCO2A1","SLURP1","SLX4","SMAD2","SMAD3","SMAD4","SMAD6","SMARCA2","SMARCA4","SMARCAD1","SMARCAL1","SMARCB1","SMARCC2","SMARCD1","SMARCD2","SMARCE1","SMC1A","SMC3","SMC5","SMG9","SMO","SMOC1","SMPD4","SMS","SNIP1","SNORD115-1","SNORD116-1","SNRPB","SNRPN","SNX10","SNX14","SOD1","SON","SOS1","SOS2","SOST","SOX11","SOX4","SOX5","SOX6","SOX9","SP7","SPAG1","SPARC","SPART","SPECC1L","SPEF2","SPEG","SPEN","SPIDR","SPOP","SPRED1","SPRED2","SPRTN","SPTBN1","SRCAP","SREBF1","SRP54","SRY","SSR4","STAG1","STAG2","STAMBP","STAT4","STK11","STK36","STN1","STUB1","STX16","STX1A","STX1B","STXBP1","SUCLG1","SUFU","SUMF1","SUPT16H","SUZ12","SVBP","SVIL","SYNE1","SYNGAP1","SYT1","SYT2","TAF1","TAF6","TAPT1","TARS1","TASP1","TBC1D24","TBC1D2B","TBC1D7","TBCE","TBCK","TBL1XR1","TBL2","TBR1","TBX1","TBX15","TBX2","TBX22","TBX3","TBX4","TBX5","TBXAS1","TCF12","TCF20","TCF4","TCIRG1","TCTN1","TCTN2","TCTN3","TDO2","TELO2","TENT5A","TERC","TERT","TFAP2A","TFAP2B","TFE3","TG","TGDS","TGFB1","TGFB2","TGFB3","TGFBR1","TGFBR2","THOC6","THSD4","TINF2","TLK2","TLL1","TMCO1","TMEM107","TMEM138","TMEM147","TMEM165","TMEM216","TMEM218","TMEM231","TMEM237","TMEM260","TMEM270","TMEM38B","TMEM53","TMEM67","TMEM70","TMEM94","TNFRSF11A","TNFRSF11B","TNFSF11","TNNI2","TNNT3","TOGARAM1","TONSL","TOPORS","TOR1A","TOR1AIP1","TP53","TP53RK","TP63","TPM2","TPM3","TPO","TPR","TPRKB","TRAF3IP1","TRAF7","TRAIP","TRAPPC2","TRAPPC9","TREX1","TRIM32","TRIM8","TRIO","TRIP11","TRIP12","TRIP13","TRMT10A","TRMT5","TRPM3","TRPS1","TRPV4","TRPV6","TRRAP","TSHB","TSHR","TSR2","TTC12","TTC21B","TTC26","TTC8","TTI2","TTN","TUBA1A","TUBB","TUBB2B","TUBB3","TWIST1","TWIST2","TXNDC15","TXNL4A","TYMS","UBA1","UBA2","UBE2A","UBE2T","UBE3A","UBE3B","UBE3C","UBE4B","UBR1","UBR7","UFC1","UFD1","UFSP2","UGP2","UNC45A","UNC80","UPF3B","UQCC2","USB1","USF3","USP7","USP9X","VAC14","VCP","VDR","VPS13B","VPS33A","VPS35L","VPS37D","VPS51","WAC","WASF1","WASHC5","WDPCP","WDR11","WDR19","WDR26","WDR35","WDR4","WDR62","WDR73","WDR81","WFS1","WIPI2","WLS","WNK1","WNT10B","WNT4","WNT5A","WNT7A","WRAP53","WRN","WWOX","XRCC2","XRCC4","XYLT1","XYLT2","YRDC","YWHAE","YY1","YY1AP1","ZBTB20","ZC4H2","ZDHHC9","ZEB2","ZFPM2","ZIC1","ZIC3","ZMIZ1","ZMPSTE24","ZMYM2","ZMYND10","ZNF141","ZNF292","ZNF407","ZNF423","ZNF462","ZNF469","ZNF668","ZNF699","ZNHIT3","ZPR1","ZSWIM6","ZSWIM7"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_LOWER_LIMB_BONE_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M38567","pmid":"","exactSource":"HP:0040069","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0040069","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LOWER_LIMB_BONE_MORPHOLOGY","geneSymbols":["AARS1","ABCA12","ABCC9","ACAN","ACTB","ACVR1","ADA","ADAMTS10","ADAMTS2","ADAMTSL1","ADAMTSL2","ADAT3","ADGRV1","ADNP","AEBP1","AFF3","AFF4","AGPS","AHI1","AIFM1","AKT1","ALG12","ALMS1","ALOX12B","ALOXE3","ALPL","AMER1","AMMECR1","ANAPC1","ANKH","ANKRD55","APC","ARCN1","ARHGAP31","ARID1B","ARL13B","ARL3","ARL6","ARL6IP6","ARMC9","ARSL","ARVCF","ARX","ASAH1","ASXL1","ATL3","ATP6AP2","ATP6V0A2","ATP6V1B2","ATP7A","ATPAF2","ATR","ATRX","B3GALNT2","B3GALT6","B3GAT3","B3GLCT","B4GALT7","B4GAT1","B9D1","B9D2","BAP1","BBS1","BBS12","BBS2","BBS9","BCR","BGN","BHLHA9","BICD2","BMP1","BMP2","BMP4","BMPR1A","BMPR1B","BPNT2","BRCA1","BRCA2","BRD4","BRF1","BRIP1","C12orf57","C2CD3","CAMK2A","CAMK2G","CANT1","CASK","CASZ1","CBFB","CBY1","CC2D2A","CCBE1","CCDC28B","CCDC47","CCDC8","CCN6","CD247","CD96","CDC42BPB","CDC45","CDC6","CDH11","CDKL5","CDT1","CENPE","CEP104","CEP120","CEP290","CEP41","CERT1","CFAP410","CHD4","CHD7","CHEK2","CHRNG","CHST11","CHST3","CHSY1","CHUK","CIBAR1","CILK1","CLCN5","CLCN7","CLTCL1","COASY","COG1","COG4","COG8","COL10A1","COL11A1","COL11A2","COL1A1","COL1A2","COL25A1","COL27A1","COL2A1","COL3A1","COL4A1","COL9A1","COL9A2","COL9A3","COMP","COMT","COX4I1","CPLANE1","CPLX1","CREBBP","CRKL","CRPPA","CRTAP","CSF1R","CSGALNACT1","CSPP1","CTBP1","CTC1","CTCF","CTSK","CUL4B","CUL7","CYP27A1","CYP27B1","CYP2R1","DACT1","DAG1","DCHS1","DCLRE1C","DDR2","DDRGK1","DDX59","DDX6","DHCR24","DHCR7","DLK1","DLL4","DLX5","DMP1","DMXL2","DNAJC21","DNMT3A","DOCK6","DOK7","DONSON","DPH5","DUOX2","DUOXA2","DVL1","DVL3","DYM","DYNC1H1","DYNC2H1","DYNC2I1","DYNC2I2","DYNC2LI1","DYNLT2B","DYRK1A","EBP","ECEL1","EED","EFL1","EFNB1","EIF2AK3","EIF4A3","EMG1","EN1","ENPP1","EOGT","EP300","EPB41L1","ERCC1","ERCC2","ERCC4","ERCC5","ERCC6","ERGIC1","ESCO2","EVC","EVC2","EXOC6B","EXOC7","EXT1","EXT2","EXTL3","EZH2","FAM149B1","FAM50A","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FAT4","FBLN1","FBN1","FBN2","FBXL4","FBXO11","FGD1","FGF9","FGFR1","FGFR2","FGFR3","FGFRL1","FIBP","FIG4","FKBP10","FKRP","FKTN","FLI1","FLNA","FLNB","FMR1","FN1","FUCA1","FZD2","GABBR2","GABRA1","GABRD","GABRG2","GALNS","GALNT2","GATA4","GBA1","GDF5","GDF6","GFM2","GHR","GJA1","GJA5","GJA8","GJB2","GJB6","GLA","GLB1","GLE1","GLI1","GLI3","GMNN","GNA11","GNAO1","GNAS","GNPTAB","GNPTG","GORAB","GP1BB","GPC3","GPC4","GPC6","GPX4","GRIN1","GRIP1","GRM7","GTF2E2","GUSB","H4C3","H4C9","HADHA","HADHB","HBA1","HBA2","HCN1","HDAC4","HDAC6","HDAC8","HEATR3","HEPACAM","HEPHL1","HERC2","HESX1","HINT1","HIRA","HNRNPH1","HNRNPK","HNRNPR","HOXA13","HOXD10","HOXD13","HPGD","HS2ST1","HSPA9","HSPG2","HTT","HUWE1","HYLS1","IARS2","IDUA","IFIH1","IFNGR1","IFT122","IFT140","IFT172","IFT27","IFT52","IFT74","IFT80","IGF1R","IHH","IL2RA","IL2RB","IL2RG","IL7R","INPP5E","INPP5K","INPPL1","INTU","IPO8","IQCE","IYD","JMJD1C","KANSL1","KAT6A","KAT6B","KATNB1","KATNIP","KCNA1","KCNAB2","KCNH1","KCNJ2","KCNJ5","KCNJ8","KCNN3","KDELR2","KDM4B","KDM5C","KIAA0586","KIAA0753","KIAA0825","KIF14","KIF1A","KIF22","KIF5C","KIF7","KIFBP","KMT2A","KNSTRN","LAMA5","LARGE1","LAS1L","LBR","LEMD2","LEMD3","LETM1","LHX3","LHX4","LIFR","LIG4","LMBR1","LMNA","LMNB2","LMX1B","LRP4","LRP5","LTBP3","LUZP1","LYSET","LZTFL1","MAD2L2","MADD","MAF","MAFB","MAGEL2","MAN2B1","MAP3K20","MAP3K7","MAPK1","MAPK8IP3","MASP1","MATN3","MBD5","MBTPS1","MECP2","MED25","MEG3","MEGF8","MET","MGAT2","MGP","MIA3","MKKS","MKRN3","MKS1","MMP13","MMP14","MMP2","MMP23B","MMP9","MSL3","MTHFS","MTX2","MUSK","MYBPC1","MYCN","MYH3","MYH8","MYL11","NAA10","NALCN","NANS","NDE1","NDN","NEK1","NEK8","NEK9","NELFA","NEPRO","NEUROD2","NF1","NFIX","NGLY1","NIPBL","NKX3-2","NOG","NOTCH1","NOTCH2","NPAP1","NPHP3","NPR2","NRCAM","NSD2","NSDHL","NSUN2","NTNG1","NUP188","NUP88","NXN","OBSL1","OCA2","OFD1","ORC1","ORC4","ORC6","OTUD5","P3H1","PALB2","PAM16","PAPPA2","PAPSS2","PCDH19","PCNT","PCYT1A","PDE4D","PDE6D","PDGFRB","PDPN","PEX1","PEX2","PEX5","PEX7","PHEX","PHF6","PHGDH","PHYH","PI4KA","PIBF1","PIEZO2","PIGF","PIGG","PIGL","PIGN","PIGP","PIGQ","PIGS","PIGV","PIK3C2A","PIK3CA","PIK3CD","PITX1","PLAA","PLEKHM1","PLOD2","PLOD3","PNKP","POC1A","POLR1A","POLR3A","POMGNT1","POMGNT2","POMK","POMT1","POMT2","POP1","POR","PORCN","POU1F1","PPIB","PPM1D","PPP2R3C","PRDM16","PRG4","PRKACA","PRKACB","PRKAR1A","PRKCZ","PRKG2","PRMT7","PROP1","PRR12","PSAP","PSAT1","PTEN","PTH1R","PTHLH","PTPN2","PTPN22","PUF60","PWAR1","PWRN1","RAB23","RAB33B","RAB3GAP2","RAD21","RAD51","RAD51C","RAG1","RAG2","RASA1","RB1","RBM10","RBM8A","RBPJ","RECQL4","RELN","RERE","RET","RETREG1","RFWD3","RINT1","RIPK4","RMRP","RNF2","RNU12","RNU4ATAC","ROBO1","ROR2","RPGRIP1","RPGRIP1L","RPL13","RPS6KA3","RREB1","RSPRY1","RTL1","RUNX2","RXYLT1","SALL1","SALL4","SAMD9","SATB1","SATB2","SBDS","SC5D","SCARF2","SCN1A","SCN1B","SCN2A","SCN9A","SCNM1","SCYL2","SEC24C","SEMA3E","SERPINF1","SERPINH1","SETBP1","SETD5","SF3B4","SGMS2","SH3PXD2B","SHH","SHOX","SIK1","SIL1","SIM1","SIN3A","SKI","SKIC3","SLC10A7","SLC12A2","SLC25A22","SLC26A2","SLC29A3","SLC2A10","SLC31A1","SLC32A1","SLC34A3","SLC35A2","SLC35B2","SLC35C1","SLC35D1","SLC39A13","SLC5A5","SLX4","SMAD4","SMARCA2","SMARCA4","SMARCAL1","SMC1A","SMC3","SMO","SMOC1","SMPD4","SNORD115-1","SNORD116-1","SNRPN","SON","SOX4","SOX9","SPART","SPECC1L","SPEN","SRCAP","SRP54","SRY","STAT4","STX1B","STXBP1","SUCLG1","SUFU","SUMF1","SVBP","SYT1","TAPT1","TBC1D24","TBCE","TBL1XR1","TBX1","TBX15","TBX22","TBX3","TBX4","TBXAS1","TCF4","TCIRG1","TCTN1","TCTN2","TCTN3","TELO2","TENT5A","TFAP2B","TG","TGDS","TGFB1","TGFB3","TINF2","TMEM107","TMEM138","TMEM216","TMEM218","TMEM231","TMEM237","TMEM38B","TMEM53","TMEM67","TNFRSF11A","TNFRSF11B","TNNI2","TNNT3","TOGARAM1","TONSL","TOPORS","TOR1A","TP53","TP63","TPM2","TPO","TPR","TRAF3IP1","TRAPPC2","TREX1","TRIM8","TRIP11","TRPS1","TRPV4","TRPV6","TRRAP","TSHB","TSHR","TTC21B","TTC26","TUBB3","TWIST1","TXNDC15","UBE2A","UBE2T","UBE3B","UBE3C","UBE4B","UBR7","UFC1","UFD1","UFSP2","UNC45A","USP7","USP9X","VAC14","VDR","VPS13B","VPS35L","WASF1","WDR19","WDR26","WDR35","WDR81","WLS","WNK1","WNT10B","WNT5A","WNT7A","WRN","XRCC2","XYLT1","XYLT2","ZBTB20","ZC4H2","ZEB2","ZMIZ1","ZMPSTE24","ZMYM2","ZNF141","ZNF407","ZNF423","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_UPPER_LIMB_BONE_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M38568","pmid":"","exactSource":"HP:0040070","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0040070","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_UPPER_LIMB_BONE_MORPHOLOGY","geneSymbols":["ACAN","ACVR1","ADAMTS10","ADAMTSL2","ADNP","AFF3","AFF4","AGA","AGPS","AKT1","ALG12","ALX4","AMMECR1","ANAPC1","ANKRD55","APC","ARHGAP31","ARID1B","ASAH1","ASXL1","ASXL2","ATL3","ATP7A","ATR","B2M","B3GALT6","B3GAT3","B3GLCT","B4GALT7","BANF1","BAZ1B","BCL7B","BCOR","BGN","BHLHA9","BICRA","BMP1","BMP2","BMP6","BMPR1A","BMPR1B","BPNT2","BPTF","BRAF","BRCA1","BRCA2","BRD4","BRIP1","BUD23","CANT1","CBFB","CBL","CCDC8","CCNQ","CD247","CD96","CDC45","CDKL5","CHD7","CHN1","CHRNG","CHST3","CHSY1","CILK1","CLCN3","CLCN7","CLIP2","COG4","COL10A1","COL11A1","COL11A2","COL1A1","COL27A1","COL2A1","COL3A1","COL5A1","COL5A2","COL9A1","COL9A2","COL9A3","COLEC10","COLEC11","COMP","CPLANE1","CPLX1","CREB3L1","CREBBP","CSGALNACT1","CSPP1","CTBP1","CTSC","CTSK","CUL7","CWC27","CYP26B1","DACT1","DCHS1","DDR2","DHCR7","DHODH","DHX30","DLK1","DLL4","DNAJC30","DNM1L","DNMT3A","DOCK6","DONSON","DVL1","DVL3","DYM","DYNC2H1","EED","EIF4A3","EIF4H","ELN","EOGT","EP300","ERCC1","ERCC4","ESCO2","EXOC6B","EXOSC2","EXT1","EXT2","EXTL3","EZH2","FAM149B1","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FAT4","FBLN1","FBN1","FBXL3","FERMT1","FGF10","FGF16","FGF23","FGF9","FGFR1","FGFR2","FGFR3","FGFRL1","FIG4","FKBP10","FKBP6","FLNA","FLNB","FMR1","FZD2","G6PC3","GALNS","GATA4","GATAD2B","GDF5","GJA5","GJA8","GJB6","GLB1","GLI3","GNAS","GNAS-AS1","GNPAT","GNPTAB","GPC3","GPC4","GPC6","GPX4","GSC","GTF2I","GTF2IRD1","GTF2IRD2","GUSB","H3-3A","H3-3B","HDAC4","HDAC8","HFE","HHAT","HNRNPR","HOXA11","HOXA13","HOXD13","HPGD","HS2ST1","IFIH1","IFITM5","IFT122","IFT140","IFT27","IFT43","IFT52","IFT80","IFT81","IHH","IL2RA","IL2RB","INPP5K","INPPL1","INTU","JAG1","KAT6B","KCNH1","KCNJ2","KCTD1","KIAA0586","KIAA0753","KIF1A","KIF22","KIF7","KL","KNSTRN","KRAS","L1CAM","LAMA5","LBR","LETM1","LIG4","LIMK1","LMBR1","LMNA","LMX1B","LONP1","LRP4","LRP5","LTBP3","LYSET","LZTR1","MACROH2A1","MAD2L2","MAF","MAFB","MAGEL2","MAN2C1","MAP2K1","MAP2K2","MAP3K7","MASP1","MATN3","MECOM","MED12","MEG3","MEGF8","MEIS2","METTL27","MKKS","MLXIPL","MMP13","MMP14","MMP2","MMP9","MRAS","MSX2","MTHFS","MTX2","MYH3","MYL11","MYSM1","NALCN","NCF1","NDN","NEK1","NEPRO","NFIX","NHS","NIPBL","NOG","NONO","NOTCH1","NOTCH2","NPR2","NPR3","NRAS","NSD1","NSD2","NSUN2","NXN","OBSL1","OFD1","OTUD6B","P3H1","PACS1","PALB2","PCDHGC4","PCNT","PCYT1A","PDE3A","PDE4D","PDE6D","PDGFRB","PEX5","PEX7","PHYH","PIEZO2","PIGS","PIGT","PIK3CD","PITX1","PLXND1","POC1A","POGZ","POLR3A","POR","PORCN","PQBP1","PRG4","PRKAR1A","PRKD1","PRKG2","PRMT7","PSMD12","PTCH1","PTDSS1","PTEN","PTH1R","PTHLH","PTPN11","PTPN2","PTPN22","PUF60","PYCR2","RAB23","RAB33B","RAB3GAP2","RAD21","RAD51","RAD51C","RAF1","RASA2","RBM10","RBM8A","RBPJ","RECQL4","RETREG1","REV3L","RFC2","RFWD3","RIGI","RIPK4","RIT1","RLIM","RMRP","RNF13","RNU4ATAC","ROBO1","ROR2","RPL26","RPS19","RPS6KA3","RRAS","RRAS2","RSPO2","RSPRY1","RTL1","RUNX2","SALL1","SALL4","SAMD9","SATB2","SCARF2","SCN9A","SETBP1","SETD5","SF3B4","SH3PXD2B","SHH","SHOX","SIAH1","SIL1","SKI","SLC25A24","SLC26A2","SLC39A13","SLX4","SMAD6","SMARCA2","SMC1A","SMC3","SMO","SMOC1","SNIP1","SNRPB","SNRPN","SOS1","SOS2","SOX9","SPARC","SPRED2","SRCAP","SRY","STAT4","STX16","STX1A","SUCLG1","SUMF1","SUZ12","SVBP","TAPT1","TBL2","TBX15","TBX22","TBX3","TBX5","TCF12","TCTN3","TFE3","TGDS","TGFB1","TMEM216","TMEM270","TMEM67","TNFRSF11A","TNFRSF11B","TNNI2","TNNT3","TONSL","TOPORS","TP63","TPM2","TRIO","TRIP11","TRPM3","TRPS1","TRPV4","TTC26","TWIST1","TWIST2","UBE2T","USP9X","VAC14","VPS13B","VPS35L","VPS37D","WDR19","WLS","WNK1","WNT5A","WNT7A","XRCC2","XYLT1","ZIC1","ZIC3","ZMPSTE24","ZNF141","ZNF668"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_MORPHOLOGY_OF_ULNA":{"collection":"C5:HPO","systematicName":"M46382","pmid":"","exactSource":"HP:0040071","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0040071","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MORPHOLOGY_OF_ULNA","geneSymbols":["AGA","ANAPC1","APC","B2M","B3GALT6","B3GAT3","B4GALT7","BAZ1B","BCL7B","BCOR","BGN","BHLHA9","BICRA","BMPR1B","BRAF","BRCA1","BRCA2","BRD4","BRIP1","BUD23","CANT1","CBL","CCDC8","CHD7","CHST3","CHSY1","CLIP2","COL10A1","COL11A1","COL2A1","COLEC10","COLEC11","COMP","CPLX1","CSGALNACT1","CTBP1","CUL7","DHODH","DNAJC30","DONSON","DYNC2H1","EIF4H","ELN","ERCC4","ESCO2","EXOC6B","EXT1","EXT2","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FGFR2","FGFR3","FGFRL1","FKBP6","FLNA","FLNB","GDF5","GSC","GTF2I","GTF2IRD1","GTF2IRD2","HDAC8","HOXA11","IFT43","IHH","JAG1","KAT6B","KRAS","LAMA5","LETM1","LIMK1","LMBR1","LRP4","LZTR1","MACROH2A1","MAD2L2","MAF","MAGEL2","MAP2K1","MAP2K2","MASP1","MECOM","METTL27","MLXIPL","MMP13","MMP9","MRAS","NCF1","NDN","NIPBL","NOG","NRAS","NSD2","OBSL1","PALB2","PCNT","PDE4D","PIEZO2","PIGT","PITX1","PLXND1","POR","PRKAR1A","PRKG2","PTPN11","RAB3GAP2","RAD21","RAD51","RAD51C","RAF1","RASA2","RBM8A","RECQL4","REV3L","RFC2","RFWD3","RIPK4","RIT1","ROR2","RPL26","RRAS","RRAS2","SALL4","SCARF2","SETBP1","SF3B4","SHOX","SLC26A2","SLX4","SMAD6","SMC1A","SMC3","SNRPN","SOS1","SOS2","SPRED2","STX1A","TBL2","TBX22","TBX3","TBX5","TGFB1","TMEM270","TNFRSF11A","TWIST1","UBE2T","VPS35L","VPS37D","WNT7A","XRCC2","XYLT1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPOPITUITARISM":{"collection":"C5:HPO","systematicName":"M38570","pmid":"","exactSource":"HP:0040075","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0040075","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPITUITARISM","geneSymbols":["AAAS","ACP5","ADAT3","ADNP","AFF4","AIP","AKT1","ALMS1","ALX3","ANOS1","APOA5","ARNT2","B3GLCT","BAP1","BMP4","BPTF","BRAF","BRCC3","BTK","CCDC141","CDH23","CDKN1C","CDKN2A","CDON","CEP57","CHD7","CTNNB1","CTSK","DBH","DCAF17","DCC","DISP1","DLL1","DNAJC21","DUSP6","DYRK1A","EDA","EDA2R","EFL1","EIF2S3","ESCO2","FANCF","FANCI","FARSA","FEZF1","FGF17","FGF8","FGFR1","FLNB","FLRT3","FOXA2","FOXH1","FSHB","GAS1","GCNA","GH1","GHRHR","GHSR","GLI2","GLI3","GMNN","GMPPA","GNAS","GNB2","GPR101","GRB10","GRM7","HBB","HERC2","HESX1","HID1","HS6ST1","IARS2","IGF2","IGSF1","IKBKG","IL17RD","KANSL1","KATNIP","KIAA0753","KMT2A","LEP","LEPR","LHX3","LHX4","MADD","MAGEL2","MAP2K2","MEN1","MKRN3","MPDU1","MT-ATP8","MT-TL1","NDN","NDNF","NF2","NFKB2","NFKBIA","NKX2-1","NODAL","NPAP1","OCA2","OTX2","PCSK1","PDGFB","PIK3CA","PITX2","PLCH1","PNPLA6","POLE","POLR3A","POLR3GL","POMC","POU1F1","POU3F4","PREPL","PRKAR1A","PROK2","PROKR2","PROP1","PSMD12","PTCH1","PUS1","PWAR1","PWRN1","RBM28","RFWD3","RNF113A","RNPC3","RRAS2","RRM2B","SBDS","SEMA3A","SEMA3E","SHH","SIN3A","SIX3","SLC29A3","SLC7A7","SMARCB1","SMARCE1","SMC1A","SMO","SNORD115-1","SNORD116-1","SNRPN","SOX10","SOX11","SOX3","SPRY4","SRD5A3","SRP54","STAG2","STAT5B","STIL","STX16","SUFU","TACR3","TAF4B","TBCE","TBCK","TBX19","TBX2","TDGF1","TERT","TGIF1","THOC2","TMCO1","TMEM67","TP53","TP63","TRAF7","TRAPPC11","TRHR","TSHB","VPS13B","WASHC5","WDR11","WDR4","YY1","ZIC2","ZMYND15","ZNF148","ZNRF3","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_AXONAL_DEGENERATION":{"collection":"C5:HPO","systematicName":"M38571","pmid":"","exactSource":"HP:0040078","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0040078","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AXONAL_DEGENERATION","geneSymbols":["ABCD1","APTX","CTDP1","CYP27A1","DNM2","ERCC6","FLVCR1","GDAP1","GJB1","IGHMBP2","LAMA2","LMNA","LRSAM1","NAGA","REEP1","SEPTIN9","SERPING1","SETX","SH3TC2","SLC25A21","TFG","TRIM2","TXN2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_IRREGULAR_DENTITION":{"collection":"C5:HPO","systematicName":"M38572","pmid":"","exactSource":"HP:0040079","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0040079","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IRREGULAR_DENTITION","geneSymbols":["DCHS1","FAT4","NFIX","NMNAT1","RIN2","SOX9","TMEM231"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ANTEVERTED_EARS":{"collection":"C5:HPO","systematicName":"M38573","pmid":"","exactSource":"HP:0040080","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0040080","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANTEVERTED_EARS","geneSymbols":["BCOR","CACNA1G","FGF3","HMGB3","KANSL1","KAT6A","KCTD1","PBX1","RPL10","SYNGAP1","TTI2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HAPPY_DEMEANOR":{"collection":"C5:HPO","systematicName":"M38574","pmid":"","exactSource":"HP:0040082","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0040082","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HAPPY_DEMEANOR","geneSymbols":["ADNP","ADSL","ASXL1","ATP10A","DYRK1A","GRIK2","HDAC8","OCA2","PRKAR1B","RAB11B","SATB2","SLC9A6","SNRPN","TASP1","TBC1D23","TCF4","UBE3A","WDR26","ZEB2","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CIRCULATING_ALDOSTERONE":{"collection":"C5:HPO","systematicName":"M38576","pmid":"","exactSource":"HP:0040085","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0040085","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_ALDOSTERONE","geneSymbols":["AVPR2","CDKN1A","CDKN1B","CDKN2B","CDKN2C","MC2R","MEN1","MRAP","NNT","SCNN1A","SCNN1B","SCNN1G"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_PROLACTIN_LEVEL":{"collection":"C5:HPO","systematicName":"M38577","pmid":"","exactSource":"HP:0040086","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0040086","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PROLACTIN_LEVEL","geneSymbols":["AKT1","BAP1","DBH","FOXA2","GCNA","GLI2","GLI3","GNAS","HESX1","IGSF1","LHX3","LHX4","NF2","OTX2","PDGFB","PIK3CA","POU1F1","PROP1","RBM28","SMARCB1","SMARCE1","SMO","SOX3","SUFU","TAF4B","TERT","TRAF7","TRHR","ZMYND15"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_BLOOD_FOLATE_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M43564","pmid":"","exactSource":"HP:0040087","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0040087","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BLOOD_FOLATE_CONCENTRATION","geneSymbols":["CUBN","DHFR","FTCD","HLA-DQA1","HLA-DQB1","OTUD5","SLC46A1","TCN2","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NEOPLASM_OF_THE_INNER_EAR":{"collection":"C5:HPO","systematicName":"M41606","pmid":"","exactSource":"HP:0040096","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0040096","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_INNER_EAR","geneSymbols":["CCND1","COQ6","HRAS","KARS1","LZTR1","NF2","SMARCB1","SPRED1","VHL"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_EUSTACHIAN_TUBE_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M38579","pmid":"","exactSource":"HP:0040115","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0040115","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_EUSTACHIAN_TUBE_MORPHOLOGY","geneSymbols":["IRF6","MSX1","NECTIN1","TP63","WDR26"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_VITAMIN_B12_LEVEL":{"collection":"C5:HPO","systematicName":"M38580","pmid":"","exactSource":"HP:0040126","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0040126","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_VITAMIN_B12_LEVEL","geneSymbols":["ABCD1","ABCD4","AMN","CASP10","CBLIF","CUBN","FAS","FASLG","GRM7","GUCY2C","HLA-DQA1","HLA-DQB1","LMBRD1","MMAA","MMAB","MMACHC","MMADHC","MMUT","MTHFD1","MTR","MTRR","PRDX1","PRKCD","RASGRP1","RNF13","SLC19A1","TCN2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_SWEAT_HOMEOSTASIS":{"collection":"C5:HPO","systematicName":"M38581","pmid":"","exactSource":"HP:0040127","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0040127","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SWEAT_HOMEOSTASIS","geneSymbols":["AGR2","CA12","CEACAM3","CEACAM6","CFTR","CLCA4","DCTN4","EDNRA","FCGR2A","FUCA1","GCLC","GSTM3","GUCY2C","HFE","HMOX1","KCNN4","MIF","NEK10","PNLIP","SCNN1A","SCNN1B","SERPINA1","SLC11A1","SLC26A9","SLC6A14","SLC9A3","STX1A","TGFB1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_NERVE_CONDUCTION_VELOCITY":{"collection":"C5:HPO","systematicName":"M38582","pmid":"","exactSource":"HP:0040129","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0040129","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_NERVE_CONDUCTION_VELOCITY","geneSymbols":["AARS1","ABHD12","AIFM1","ARHGEF10","ARSA","ATP11A","ATP7B","ATXN1","ATXN10","BSCL2","CCT5","CHCHD10","CNTNAP1","CTDP1","CYP27A1","DCAF8","DEGS1","DHX16","DNAJC3","DNM2","EGR2","ERCC3","ERCC6","ERCC8","FBLN5","FBN1","FBXO38","FGD4","FIG4","FLVCR1","FXN","GALC","GARS1","GDAP1","GFM2","GJB1","GJC2","HK1","HPDL","HSD17B4","HSPB1","HYCC1","IDUA","IGHMBP2","ITPR3","JPH1","KIF1A","KIF1B","LAMA2","LIG3","LITAF","LMNA","LRSAM1","LTBP3","LYST","MATR3","MED25","MEGF10","MFF","MFN2","MORC2","MPZ","MTMR2","MTRFR","MYH14","NALCN","NDRG1","NEFL","NEU1","NFASC","NGLY1","NOTCH2NLC","PDK3","PEX6","PLA2G6","PLEKHG5","PLP1","PMP22","PNKP","PNPT1","POLG","PRDX3","PRPS1","PRX","PSAP","PTRH2","RAB7A","RAI1","REEP1","RETREG1","RRM2B","SACS","SAMD9L","SBF1","SBF2","SCN9A","SCP2","SETX","SH3TC2","SIGMAR1","SLC12A6","SLC25A15","SLC5A7","SORD","SOX10","SPTLC1","SPTLC2","SUCLA2","TBC1D20","TDP1","TPI1","TRIM2","TYMP","UQCRC1","VCP","WNK1","YARS1","YME1L1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_SERUM_IRON_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M38583","pmid":"","exactSource":"HP:0040130","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0040130","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SERUM_IRON_CONCENTRATION","geneSymbols":["BCS1L","BMP2","CARD9","COL7A1","CP","FOXP1","FTH1","FTL","HAMP","HFE","HJV","KIF23","PIGA","PKLR","RACGAP1","SKIC2","SKIC3","SLC11A2","STEAP3","TFR2","TRNT1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_MOTOR_NERVE_CONDUCTION_VELOCITY":{"collection":"C5:HPO","systematicName":"M38584","pmid":"","exactSource":"HP:0040131","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0040131","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MOTOR_NERVE_CONDUCTION_VELOCITY","geneSymbols":["AARS1","ATP11A","ATXN1","BSCL2","CCT5","CNTNAP1","CTDP1","DCAF8","DEGS1","DNAJC3","EGR2","FBXO38","FGD4","FIG4","FXN","GARS1","GDAP1","GJB1","GJC2","HK1","HPDL","HSPB1","HYCC1","ITPR3","JPH1","KIF1B","LIG3","LITAF","LMNA","LRSAM1","MED25","MEGF10","MFN2","MORC2","MPZ","MTMR2","NALCN","NDRG1","NEFL","NOTCH2NLC","PLEKHG5","PMP22","PNKP","POLG","PRPS1","PRX","PTRH2","RAB7A","REEP1","RRM2B","SACS","SBF2","SCP2","SETX","SH3TC2","SIGMAR1","SLC12A6","SLC5A7","SORD","SPTLC1","SPTLC2","TBC1D20","TDP1","TRIM2","TYMP","UQCRC1","VCP","YARS1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_SENSORY_NERVE_CONDUCTION_VELOCITY":{"collection":"C5:HPO","systematicName":"M38585","pmid":"","exactSource":"HP:0040132","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0040132","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SENSORY_NERVE_CONDUCTION_VELOCITY","geneSymbols":["ATXN1","CHCHD10","DNAJC3","EGR2","FLVCR1","FXN","GDAP1","HPDL","KIF1A","LIG3","MFN2","MPZ","MTRFR","NGLY1","NOTCH2NLC","PMP22","POLG","PRX","PTRH2","RETREG1","RRM2B","SACS","SCN9A","SLC12A6","SPTLC1","TYMP","WNK1","YARS1","YME1L1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CIRCULATING_FERRITIN_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M38586","pmid":"","exactSource":"HP:0040133","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0040133","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_FERRITIN_CONCENTRATION","geneSymbols":["BCS1L","BMP2","BMP6","CP","CPOX","FOCAD","FTH1","FTL","GFER","GLRX5","HAMP","HAVCR2","HBB","HFE","HJV","HMOX1","IFIH1","IFNG","ITK","KARS1","KCNN4","LYST","MCM10","NLRC4","PIEZO1","PIK3CG","PKLR","PRF1","PUS1","SLC19A1","SLC25A38","SLC30A10","SLC40A1","SLC4A1","SLC7A7","STAT2","STEAP3","STX11","STXBP2","TFR2","TTC26","UNC13D","XIAP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_HEPATIC_IRON_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M38587","pmid":"","exactSource":"HP:0040134","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0040134","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_HEPATIC_IRON_CONCENTRATION","geneSymbols":["BCS1L","BMP6","CP","FARS2","FOCAD","FTH1","FTL","GLRX5","HBB","PIGA","SLC11A2","STEAP3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_TRANSFERRIN_SATURATION":{"collection":"C5:HPO","systematicName":"M38588","pmid":"","exactSource":"HP:0040135","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0040135","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_TRANSFERRIN_SATURATION","geneSymbols":["BCS1L","BMP6","FTH1","FTL","HAMP","HFE","HJV","PKLR","SLC25A38","SLC30A10","SLC40A1","STEAP3","TFR2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DEGENERATION_OF_THE_STRIATUM":{"collection":"C5:HPO","systematicName":"M38589","pmid":"","exactSource":"HP:0040140","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0040140","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEGENERATION_OF_THE_STRIATUM","geneSymbols":["ADAR","ATXN3","HTT","IFIH1","LSM11","PDE8B","RNASEH2A","RNASEH2B","RNASEH2C","RNU7-1","SAMHD1","SLC2A3","TREX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CORTICAL_MYOCLONUS":{"collection":"C5:HPO","systematicName":"M41607","pmid":"","exactSource":"HP:0040148","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0040148","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CORTICAL_MYOCLONUS","geneSymbols":["CASR","GNA11","PGM3","RAPGEF2","TNRC6A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ACNE_INVERSA":{"collection":"C5:HPO","systematicName":"M38590","pmid":"","exactSource":"HP:0040154","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0040154","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACNE_INVERSA","geneSymbols":["GJB2","GJB6","HYOU1","IKBKB","KDF1","KRT5","MEFV","NCSTN","POFUT1","POGLUT1","PSEN1","PSENEN"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ELEVATED_URINARY_CARBOXYLIC_ACID":{"collection":"C5:HPO","systematicName":"M38591","pmid":"","exactSource":"HP:0040156","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0040156","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELEVATED_URINARY_CARBOXYLIC_ACID","geneSymbols":["ABCD4","ACAD8","ACAD9","ACADM","ACADS","ACADSB","ACADVL","ACSF3","ALAD","ALDH5A1","ALDH6A1","CA5A","CD320","COX16","CPOX","CPT1A","CPT2","D2HGDH","DHTKD1","ETFA","ETFB","ETFDH","ETHE1","FH","FOCAD","FTCD","GATA1","GCDH","HADH","HCFC1","HGD","HLCS","HMBS","HMGCL","HPD","HSPD1","IDH1","IDH2","KIF1B","L2HGDH","LETM1","LMBRD1","MCCC1","MCEE","MLYCD","MMAA","MMAB","MMACHC","MMADHC","MMUT","MTR","MTRR","MVK","NDUFB10","NDUFS4","NFU1","OXCT1","PAH","PEX14","POLG","PPOX","PRDX1","RET","SCO1","SFXN4","SLC13A3","SLC18A2","SLC22A5","SLC25A1","SLC25A20","SLC52A1","SUCLA2","SUCLG1","SUGCT","TAT","TCN2","TFAM","TRMU","UROC1","UROS"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_INTERMAMILLARY_DISTANCE":{"collection":"C5:HPO","systematicName":"M47324","pmid":"","exactSource":"HP:0040157","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0040157","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_INTERMAMILLARY_DISTANCE","geneSymbols":["ABCD4","ADNP","ALG14","ALG9","AMER1","AMMECR1","ARCN1","ARHGEF2","ASH1L","ASXL1","B3GLCT","BRAF","CBL","CDH11","CDK13","CERT1","CHD7","CHST3","CILK1","COG1","COX7B","CPT2","CSPP1","DHCR7","DLK1","DUSP6","EED","ERCC6","ERMARD","EXOC2","FGF17","FGF8","FGFR1","FRAS1","FREM2","GATA4","GNB2","GNPTAB","GNRH1","GNRHR","GPC3","GPC4","GRIP1","HDAC4","HNRNPK","HS6ST1","IBA57","IDH1","IGF1R","INTU","KANSL1","KAT6A","KATNB1","KIAA0586","KIFBP","KISS1","KISS1R","KNSTRN","KRAS","LAMA5","LBR","LZTR1","MAB21L1","MADD","MAP2K1","MAPRE2","MEG3","MEGF8","MGAT2","MRAS","NECTIN1","NF1","NHLH2","NRAS","NSD2","NSMF","NUP188","PACS1","PIGN","PIK3CD","PPP1CB","PROK2","PROKR2","PSAT1","PTPN11","RAB18","RAF1","RASA2","RIPK4","RIT1","RRAS","RRAS2","RTL1","SMARCA2","SMPD4","SMS","SOS1","SOS2","SPRED2","SPRY4","SRY","TAC3","TACR3","TBL1XR1","TFAP2A","TIMM50","TMCO1","TMEM94","TOGARAM1","TP63","TRAF7","TTC5","TUBB","UBE2A","WASF1","WDR11","WDR37","WLS","ZC4H2","ZNF148"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_SPACED_INCISORS":{"collection":"C5:HPO","systematicName":"M46383","pmid":"","exactSource":"HP:0040159","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0040159","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SPACED_INCISORS","geneSymbols":["ABCC9","ALX3","ANKRD11","ATRX","CHSY1","DNMT3A","DOCK7","FREM1","GATAD2B","HMGB3","HRAS","RNF2","STAG1","TUBGCP2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_GENERALIZED_OSTEOPOROSIS":{"collection":"C5:HPO","systematicName":"M38593","pmid":"","exactSource":"HP:0040160","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0040160","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENERALIZED_OSTEOPOROSIS","geneSymbols":["B3GAT3","CBS","CCN6","CDC73","CHST3","COL1A1","COL1A2","COL2A1","GCM2","LMNA","MEN1","MMP14","SATB2","SP7","STAT1","TENT5A","TOM1","ZBTB20"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LOCALIZED_OSTEOPOROSIS":{"collection":"C5:HPO","systematicName":"M43566","pmid":"","exactSource":"HP:0040161","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0040161","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOCALIZED_OSTEOPOROSIS","geneSymbols":["BMP15","BNC1","FOXA2","FSHR","GLI2","HESX1","HTRA1","LHX4","MRPS22","MSH4","NR5A1","NUP107","OTX2","POLR3H","POU1F1","PROP1","PSMC3IP","RUNX2","SOX3","SPIDR","TRAPPC2","ZSWIM7"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ORTHOKERATOSIS":{"collection":"C5:HPO","systematicName":"M38594","pmid":"","exactSource":"HP:0040162","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0040162","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ORTHOKERATOSIS","geneSymbols":["AAGAB","CARD14","CERS3","CLDN1","COL14A1","CSTA","CYP4F22","DSG1","ENPP1","FLG2","GJA1","KDF1","KRT1","KRT10","LIPN","LORICRIN","NIPAL4","NSDHL","TRPV3","WNT10A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_PELVIS_BONE_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M38595","pmid":"","exactSource":"HP:0040163","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0040163","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PELVIS_BONE_MORPHOLOGY","geneSymbols":["ATP7A","B3GLCT","BGN","BMPER","COL11A2","DYM","ERCC6","ERCC8","EXT1","EXT2","FGFR2","FIG4","IDUA","LEMD3","MBTPS2","PCNT","POR","PTH1R","RSPRY1","TRIP11","TRPV4","VAC14"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_HAIR_GROWTH":{"collection":"C5:HPO","systematicName":"M38597","pmid":"","exactSource":"HP:0040170","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0040170","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_HAIR_GROWTH","geneSymbols":["ADAM17","BRAF","CDSN","CST6","DSG4","EDAR","EDARADD","EGFR","GJA1","GJB6","GTF2E2","IFT122","KRAS","KRT25","KRT71","KRT74","KRT81","KRT83","KRT86","LIPH","LPAR6","MAP2K1","MAP2K2","NR2F1","PPP1CB","RNF113A","RPL21","SHOC2","TP63","TRPS1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_OCCIPITOFRONTALIS_MUSCLE":{"collection":"C5:HPO","systematicName":"M47325","pmid":"","exactSource":"HP:0040172","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0040172","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_OCCIPITOFRONTALIS_MUSCLE","geneSymbols":["AGRN","CHAT","COL13A1","MYO9A","SLC18A3","SLC25A1","SLC5A7","SNAP25","SYT2","VAMP1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_TONGUE_MUSCLE":{"collection":"C5:HPO","systematicName":"M38598","pmid":"","exactSource":"HP:0040173","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0040173","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_TONGUE_MUSCLE","geneSymbols":["FKRP","GMPPB","LARGE1","POMT1","POMT2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MACROTHROMBOCYTOPENIA":{"collection":"C5:HPO","systematicName":"M38599","pmid":"","exactSource":"HP:0040185","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0040185","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MACROTHROMBOCYTOPENIA","geneSymbols":["DIAPH1","GATA1","GFI1B","GP1BA","GP1BB","GP9","ITGA2B","MYH9","PRKACG","SLC35A1","TUBA8","TUBB1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_OSTEOCHONDROSIS":{"collection":"C5:HPO","systematicName":"M38601","pmid":"","exactSource":"HP:0040188","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0040188","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OSTEOCHONDROSIS","geneSymbols":["ACAN","ACTB","ACTG1","COL9A2","DYRK1A","FGFR1","KRAS","LMX1B","MMP13","ORC1","SMAD3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SCALING_SKIN":{"collection":"C5:HPO","systematicName":"M38602","pmid":"","exactSource":"HP:0040189","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0040189","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SCALING_SKIN","geneSymbols":["ADAM17","CARD14","CARMIL2","CASP14","CAST","CDSN","CHST8","CSTA","CYP4F22","DCAF17","DSP","EBP","EGFR","ELOVL4","FLG2","GJA1","GJB2","GJB6","GNB2","IL2RA","IL7R","KIF11","KIT","KRT1","KRT10","KRT74","LDHA","LMNA","LORICRIN","LRBA","MBTPS2","MPDU1","NIPAL4","OSMR","PKP1","PPP2R3C","RASA1","RECQL","RIGI","RNF168","SAMHD1","SASH1","SERPINB8","SULT2B1","TGM1","TGM5","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INCREASED_HEAD_CIRCUMFERENCE":{"collection":"C5:HPO","systematicName":"M38603","pmid":"","exactSource":"HP:0040194","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0040194","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_HEAD_CIRCUMFERENCE","geneSymbols":["ABCC9","ACADM","ACADVL","ACAN","ACER3","ADGRG1","ADGRL1","ADK","AFF2","AGGF1","AKT1","AKT3","ALDH1A2","ALG13","ALKBH8","AMER1","ANK3","ANKH","ANKRD17","ANTXR2","AP1S2","APC","APC2","ARL6","ARSB","ASH1L","ASPA","ASXL2","B3GALNT2","B3GLCT","B4GALT1","B4GALT7","B4GAT1","BBS1","BGN","BICD2","BICRA","BIN1","BLTP1","BMP2","BMPR1A","BRAF","BRWD3","CACNA1E","CAMK2A","CAMK2G","CAMTA1","CC2D2A","CCDC22","CCDC28B","CCND2","CCNK","CDC42BPB","CDCA7","CDH2","CDKN1C","CDON","CEP120","CHD1","CHD3","CHD4","CHD8","CHRNA7","CLCN3","CLCN4","CLCN7","CLIC2","CNTNAP2","COL2A1","COL4A1","CRADD","CRPPA","CSF1R","CSGALNACT1","CTNNA2","CUL4B","CWC27","D2HGDH","DAG1","DEAF1","DHCR24","DICER1","DIS3L2","DISP1","DLK1","DLL1","DLL3","DMPK","DNM2","DNMT3A","DNMT3B","DOCK3","DOCK6","DPH1","DPH2","DPYD","DPYSL5","DVL1","DVL3","DYNC2H1","DYNC2I1","DYNC2I2","EDN1","EED","EIF2B1","EML1","ERF","ERMARD","ETFA","ETFB","ETFDH","EXT2","EZH2","FAM111A","FAM149B1","FAR1","FBN1","FBXO11","FBXW7","FGF8","FGFR1","FGFR2","FGFR3","FH","FIBP","FIG4","FKRP","FKTN","FLI1","FMR1","FOCAD","FOXH1","FOXP1","FOXP2","FZD2","GABBR2","GAD1","GALC","GAN","GAS1","GCDH","GFAP","GJA1","GLI2","GLI3","GNAI3","GNAQ","GNB1","GNB2","GNE","GNS","GPC3","GPC4","GRB10","GRIA3","GUSB","H1-4","H19","H3-3A","H3-3B","HDAC4","HDAC6","HECTD4","HECW2","HELLS","HEPACAM","HERC1","HES7","HEXB","HMGA2","HOXD13","HRAS","HSD17B4","HUWE1","IDH1","IDS","IDUA","IFT43","IFT74","IFT80","IFT81","IGBP1","IGF2","IHH","IL6ST","INPP5E","INPPL1","ITCH","JARID2","KANSL1","KCNC2","KCNH1","KCNJ1","KCNJ8","KDM1A","KDM5C","KIF7","KLLN","KMT2E","KMT5B","KPTN","KRAS","L1CAM","L2HGDH","LAMA5","LAMB1","LARGE1","LBR","LFNG","LMNA","LRP2","LRP4","LRP5","LZTR1","MAB21L2","MACROH2A1","MAN1B1","MAN2B1","MAN2C1","MAP2K1","MAP2K2","MECP2","MED12","MEG3","MESP2","MGAT2","MITF","MLC1","MOCS1","MOCS2","MPDZ","MRAS","MSX2","MTM1","MTMR14","MTOR","MYF6","MYH8","MYMK","NALCN","NDUFAF3","NDUFS4","NDUFV1","NEU1","NF1","NFIA","NFIB","NFIX","NKX3-2","NLRP3","NODAL","NONO","NOTCH2","NRAS","NSD1","NXN","OBSL1","ODC1","OFD1","OPHN1","OTUD5","PAK1","PCGF2","PDGFRB","PDSS1","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PGAP2","PGAP3","PHF21A","PHF6","PIBF1","PIGA","PIGL","PIGN","PIGO","PIGT","PIGV","PIGW","PIGY","PIK3CA","PIK3R2","PITX1","PKDCC","PLAG1","PLCB4","PLCH1","PLEC","PLG","POC1A","POLE","POLR3A","POMGNT1","POMGNT2","POMK","POMT1","POMT2","POP1","POR","POU4F1","PPP1CB","PPP1R12A","PPP2CA","PPP2R5D","PSAP","PTCH1","PTDSS1","PTEN","PTHLH","PTPN11","RAB39B","RAC1","RAF1","RERE","RFX7","RIN2","RIPPLY2","RIT1","RNF125","RNF135","ROBO3","ROR2","RPGRIP1L","RTL1","RUNX2","RXYLT1","RYR1","SATB2","SDHB","SDHC","SDHD","SEC23A","SEC23B","SEC24D","SERPINH1","SETD1A","SETD2","SH2B1","SHANK3","SHH","SHOC2","SHPK","SIM1","SIX2","SIX3","SLC12A2","SLC16A2","SLC25A1","SLC26A2","SLC29A3","SLC2A1","SLC2A10","SLC35D1","SLC39A14","SMAD4","SMARCB1","SMC1A","SMO","SMPD1","SNX10","SNX14","SON","SOS1","SOST","SOX9","SP7","SPINT2","SPRED1","SPTBN1","SRCAP","STAG2","STIL","STRADA","STT3A","SUFU","SUMF1","SUZ12","SYN1","TAOK1","TBC1D2B","TBC1D7","TBCK","TBL1X","TBX15","TBX6","TCF20","TCIRG1","TDGF1","TET3","TFE3","TGIF1","THRA","TMCO1","TMEM216","TMEM53","TMEM67","TMEM94","TNFRSF11A","TNFRSF11B","TNFSF11","TNRC6B","TONSL","TRIM37","TRIO","TRIP11","TUBA1A","TUBB2B","TUBB3","UBE2A","UBE3A","UPF3B","USF3","USP7","USP9X","VPS35L","WASHC5","WDR35","WNT5A","XYLT1","YME1L1","ZBTB20","ZBTB24","ZBTB42","ZBTB7A","ZDHHC9","ZIC2","ZMPSTE24","ZNF469","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DECREASED_HEAD_CIRCUMFERENCE":{"collection":"C5:HPO","systematicName":"M46384","pmid":"","exactSource":"HP:0040195","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0040195","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_HEAD_CIRCUMFERENCE","geneSymbols":["AAAS","AARS1","AASS","ABCA2","ACADS","ACADSB","ACADVL","ACBD5","ACD","ACE","ACO2","ACSF3","ACSL4","ACTB","ACTG1","ACTG2","ACTL6B","ADA2","ADAM22","ADAMTSL1","ADAR","ADARB1","ADAT3","ADD3","ADGRG1","ADH5","ADNP","ADPRS","ADSL","AFF2","AFF3","AFF4","AGA","AGGF1","AGT","AGTPBP1","AGTR1","AHCY","AHSG","AIMP1","AIMP2","ALDH18A1","ALDH3A2","ALDH6A1","ALG1","ALG11","ALG12","ALG13","ALG2","ALG3","ALG9","ALS2","ALX4","AMFR","AMPD2","ANK1","ANK3","ANKLE2","ANKRD11","ANKRD17","AP1S2","AP2M1","AP3B1","AP3B2","AP3D1","AP4B1","AP4E1","AP4M1","AP4S1","ARCN1","ARFGEF2","ARHGAP31","ARHGEF2","ARID1A","ARID1B","ARID2","ARNT2","ARPC4","ARSL","ARV1","ARVCF","ARX","ASH1L","ASNS","ASPA","ASPM","ASXL1","ASXL3","ATM","ATP10A","ATP11A","ATP1A2","ATP1A3","ATP5F1A","ATP5F1D","ATP5F1E","ATP5MK","ATP5PO","ATP6V0A2","ATP6V1A","ATP6V1B2","ATP6V1E1","ATP7A","ATP9A","ATPAF1","ATPAF2","ATR","ATRIP","ATRX","AUH","AUTS2","B3GALNT2","B3GLCT","B4GAT1","B9D1","B9D2","BAZ1B","BCAP31","BCAS3","BCL11A","BCL7B","BCOR","BCR","BDNF","BICRA","BLM","BMP15","BMP4","BNC1","BPTF","BRAT1","BRCA1","BRCA2","BRD4","BRF1","BRIP1","BRPF1","BUB1","BUB1B","BUB3","BUD23","C2CD3","C2orf69","CACNA1A","CACNA1B","CACNA1G","CACNA2D1","CAMK2A","CAMK2B","CAPN15","CARS1","CARS2","CASK","CASZ1","CBL","CC2D1A","CC2D2A","CCDC32","CCDC47","CCDC8","CCDC88A","CD96","CDC42","CDC42BPB","CDC45","CDC6","CDCA7","CDH11","CDK10","CDK13","CDK19","CDK5","CDK5RAP2","CDK6","CDKL5","CDON","CDT1","CELF2","CENATAC","CENPE","CENPF","CENPJ","CENPT","CEP135","CEP152","CEP290","CEP57","CEP63","CEP85L","CERT1","CFC1","CHAMP1","CHD2","CHD7","CHD8","CHKA","CHKB","CHMP1A","CHN1","CHRNA7","CHRNG","CIT","CKAP2L","CLCN3","CLCN4","CLIP2","CLP1","CLPB","CLPP","CLTC","CNKSR2","CNNM2","CNOT1","CNP","CNTNAP1","COASY","COG1","COG2","COG4","COG5","COG6","COG7","COG8","COL18A1","COL4A1","COMT","COPB1","COPB2","COQ9","COX11","COX15","COX7B","COX8A","CPLX1","CPSF3","CPT2","CREBBP","CRIPT","CRKL","CRLS1","CRPPA","CSNK2A1","CSPP1","CTBP1","CTCF","CTNNA2","CTNNB1","CTNND2","CTSD","CTU2","CUL3","CUL4B","CWF19L1","CYB5A","CYB5R3","CYFIP2","CYP26C1","DAG1","DALRD3","DCHS1","DCPS","DCX","DDB2","DDX11","DDX3X","DDX59","DDX6","DEAF1","DEGS1","DENND5A","DGCR2","DGCR6","DGCR8","DGUOK","DHCR24","DHCR7","DHDDS","DHFR","DHTKD1","DHX30","DHX37","DIAPH1","DISC1","DISP1","DKC1","DLAT","DLD","DLK1","DLL1","DLL3","DMXL2","DNA2","DNAAF4","DNAJC21","DNAJC30","DNM1","DNM1L","DNMT3A","DOCK6","DOHH","DOLK","DONSON","DPAGT1","DPF2","DPH2","DPM1","DPM2","DPP6","DPYD","DSG1","DSTYK","DTYMK","DYM","DYNC1H1","DYNC1I2","DYRK1A","EBF3","EDC3","EEF1A2","EFEMP2","EFL1","EFNB1","EFTUD2","EHMT1","EIF2AK2","EIF2AK3","EIF2B1","EIF2S3","EIF3F","EIF4H","EIF5A","ELAC2","ELN","ELOVL4","EMC1","EMG1","EN1","ENTPD1","EOMES","EP300","EPG5","EPRS1","ERCC1","ERCC2","ERCC3","ERCC4","ERCC5","ERCC6","ERCC6L2","ERCC8","ESCO2","ESS2","EXOC2","EXOC7","EXOC8","EXOSC1","EXOSC3","EXOSC5","EXOSC8","EXOSC9","EXT1","EXT2","EXTL3","FAM20C","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FAR1","FARS2","FARSA","FARSB","FAT4","FBLN5","FBN1","FBXL3","FBXL4","FBXO11","FBXO28","FBXW7","FDXR","FGF12","FGF13","FGF8","FGFR1","FGFR3","FGFRL1","FH","FIG4","FKBP6","FKRP","FKTN","FLCN","FLII","FLVCR2","FOXG1","FOXH1","FOXRED1","FRA10AC1","FRAS1","FREM1","FREM2","FRMD4A","FSHR","FTO","FUS","FUT8","FZD4","FZR1","G6PC3","GABBR2","GABRA2","GABRA5","GABRB2","GABRD","GABRG2","GALC","GALK1","GALNT2","GAS1","GATA1","GATA4","GATA6","GBA1","GEMIN4","GET4","GFM1","GFM2","GINS1","GJA1","GJA5","GJA8","GJB3","GJB4","GLE1","GLI2","GLS","GLYCTK","GMNN","GMPPA","GMPPB","GNAO1","GNB1","GNB5","GNPAT","GOLGA2","GON7","GORAB","GOT2","GP1BB","GPKOW","GPT2","GRIA2","GRIA4","GRIK2","GRIN1","GRIN2A","GRIN2B","GRIN2D","GRIP1","GRM7","GSC","GTF2E2","GTF2H5","GTF2I","GTF2IRD1","GTF2IRD2","GTPBP2","H3-3A","H3-3B","H4C3","H4C5","HAAO","HACE1","HBA1","HBA2","HCCS","HCFC1","HCN1","HDAC4","HDAC8","HEATR3","HES7","HHAT","HIKESHI","HIRA","HIVEP2","HMGA2","HMGB3","HMGCL","HNMT","HNRNPH1","HNRNPH2","HNRNPK","HNRNPR","HNRNPU","HPD","HPDL","HSD17B10","HSPD1","HSPG2","HTRA2","HUWE1","IARS1","IBA57","IER3IP1","IFIH1","IFT140","IFT74","IGF1","IGF1R","IKBKG","INPP5E","INPP5K","INSR","INTS8","IPO8","IQSEC1","IQSEC2","ISCA1","ITGA3","ITGB6","ITPA","JAM2","JAM3","JARID2","JMJD1C","KANSL1","KARS1","KAT5","KAT6A","KAT6B","KATNB1","KCNA1","KCNA2","KCNA4","KCNAB2","KCNB1","KCNH1","KCNJ2","KCNJ6","KCNMA1","KCNN2","KCNQ2","KCNT1","KCTD7","KDM5C","KDM6A","KDSR","KIF11","KIF14","KIF15","KIF1A","KIF1C","KIF2A","KIF5A","KIF5C","KIFBP","KIT","KMT2A","KMT2B","KMT2C","KMT2D","KNL1","KYNU","L1CAM","LAGE3","LAMB2","LARGE1","LARP7","LARS1","LAS1L","LDHD","LEMD2","LEMD3","LETM1","LFNG","LGI3","LIAS","LIG4","LIMK1","LINGO1","LINS1","LIPT2","LMBRD2","LMNB1","LMNB2","LMX1B","LONP1","LRP5","LRPPRC","LSM11","LSS","LTBP1","LTC4S","LUZP1","MAB21L1","MACF1","MAD1L1","MAD2L2","MAFB","MAP1B","MAPK1","MAPK8IP3","MAPKAPK5","MAPRE2","MARS1","MASP1","MBD5","MBOAT7","MBTPS2","MCM4","MCM7","MCOLN1","MCPH1","MCTP2","MDH1","MECP2","MED12","MED17","MED23","MED25","MED27","MEG3","MEIS2","MESD","MESP2","METTL27","METTL5","MFF","MFSD2A","MGAT2","MGME1","MICOS13","MICU1","MID1","MINPP1","MIPEP","MIR17HG","MKS1","MLXIPL","MMACHC","MMP23B","MOCS1","MOCS2","MORC2","MPC1","MPDU1","MPDZ","MPLKIP","MRPS22","MRPS25","MRPS28","MRPS34","MSH4","MSMO1","MT-ATP6","MT-ATP8","MT-ND1","MT-ND2","MT-ND3","MTFMT","MTHFR","MTHFS","MTRR","MTSS2","MVK","MYCN","MYH3","MYMK","MYMX","MYO18B","MYORG","MYSM1","NAA10","NACC1","NADK2","NAGS","NALCN","NANS","NAPB","NARS1","NARS2","NAT8L","NBEA","NBN","NCAPD2","NCAPD3","NCAPG2","NCAPH","NCF1","NDE1","NDP","NDUFA1","NDUFA11","NDUFA2","NDUFA6","NDUFA8","NDUFAF1","NDUFAF2","NDUFAF3","NDUFAF4","NDUFAF5","NDUFAF8","NDUFB10","NDUFB11","NDUFB3","NDUFB9","NDUFC2","NDUFS1","NDUFS2","NDUFS3","NDUFS4","NDUFS6","NDUFS7","NDUFS8","NDUFV1","NDUFV2","NECAP1","NEK9","NELFA","NEUROD2","NEXMIF","NF1","NFASC","NFIX","NGLY1","NHEJ1","NHP2","NIN","NIPA1","NIPA2","NIPBL","NKX2-1","NKX3-2","NODAL","NOP10","NR5A1","NRCAM","NSD1","NSD2","NSDHL","NSF","NSMCE2","NSRP1","NSUN2","NSUN3","NTNG1","NTNG2","NTRK2","NUBPL","NUP107","NUP133","NUP188","NUP214","NUP37","NUP85","NUS1","OCA2","OCLN","OFD1","OGDHL","OGT","ORC1","ORC4","ORC6","OSGEP","OSTM1","OTUD5","OTUD6B","P4HTM","PACS1","PACS2","PAFAH1B1","PAH","PAK3","PALB2","PAPPA2","PARN","PARS2","PAX3","PAX6","PCDH12","PCDHGC4","PCGF2","PCLO","PCNA","PCNT","PDCD6IP","PDE2A","PDGFB","PDGFRB","PDHA1","PDHX","PDPN","PET100","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PEX7","PGAP1","PGAP2","PGAP3","PHACTR1","PHC1","PHF6","PHF8","PHGDH","PI4KA","PIDD1","PIEZO2","PIGA","PIGF","PIGG","PIGH","PIGL","PIGO","PIGP","PIGQ","PIGS","PIGV","PIGW","PIGY","PIK3CD","PIK3R1","PISD","PLAA","PLAG1","PLCB1","PLCH1","PLEKHG2","PLK4","PLP1","PLPBP","PLXNA1","PMM2","PMPCB","PNKP","PNPLA6","PNPO","POC1A","POGZ","POLA1","POLE","POLG","POLH","POLR1A","POLR1B","POLR2A","POLR3B","POLR3GL","POLR3H","POLR3K","POLRMT","POMGNT1","POMGNT2","POMK","POMT1","POMT2","POR","PORCN","PPFIBP1","PPP1R12A","PPP1R15B","PPP2CA","PPP2R1A","PPP3CA","PPT1","PQBP1","PRDM16","PRDX1","PRIM1","PRKAR1B","PRKCZ","PRKD1","PRKDC","PRMT7","PRORP","PRR12","PRUNE1","PSAP","PSAT1","PSMB1","PSMC1","PSMC3IP","PSPH","PTCH1","PTDSS1","PTEN","PTF1A","PTPN23","PTRH2","PTS","PUF60","PURA","PUS1","PUS3","PUS7","PYCR1","PYCR2","QARS1","QDPR","QRICH1","RAB11B","RAB18","RAB3GAP1","RAB3GAP2","RAC1","RAD21","RAD50","RAD51","RAD51C","RAI1","RARS1","RARS2","RB1","RBBP8","RBM28","RBPJ","RECQL","RELN","REN","RERE","RFC2","RFT1","RFWD3","RFX7","RHOBTB2","RIC1","RIPK4","RIPPLY2","RLIM","RNASEH2A","RNASEH2B","RNASEH2C","RNASET2","RNF113A","RNF13","RNF168","RNF2","RNPC3","RNU12","RNU4ATAC","RNU7-1","ROGDI","RPGRIP1","RPGRIP1L","RPL10","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS23","RPS24","RPS26","RPS27","RPS28","RPS29","RPS6KA3","RPS7","RREB1","RRP7A","RSPRY1","RSRC1","RTEL1","RTL1","RTTN","RUSC2","RXYLT1","SALL1","SALL4","SAMD9L","SAMHD1","SARS1","SASS6","SATB1","SATB2","SBF1","SC5D","SCN1A","SCN1B","SCN2A","SCN3A","SCN8A","SCUBE3","SCYL2","SDHA","SDHAF1","SDHB","SDHD","SEC24C","SELENOI","SEMA3E","SEMA5A","SEPSECS","SERAC1","SET","SETD2","SF3B4","SGPL1","SHANK3","SHH","SHMT2","SIGMAR1","SIK1","SIL1","SIN3A","SIN3B","SIX3","SIX6","SKI","SLC12A5","SLC12A6","SLC13A5","SLC16A2","SLC18A2","SLC1A2","SLC1A4","SLC20A2","SLC25A1","SLC25A12","SLC25A19","SLC25A20","SLC25A22","SLC25A24","SLC25A46","SLC2A1","SLC30A10","SLC30A9","SLC32A1","SLC35A1","SLC35A2","SLC35A3","SLC35C1","SLC38A3","SLC39A14","SLC5A6","SLC6A1","SLC6A8","SLC6A9","SLC9A6","SLX4","SMAD4","SMARCA2","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SMC1A","SMC3","SMC5","SMG8","SMG9","SMO","SMPD4","SNAI2","SNAP29","SNRPB","SNRPN","SOX11","SOX2","SOX4","SP110","SPART","SPATA5","SPATA5L1","SPEN","SPG11","SPIDR","SPOP","SPR","SPTAN1","SPTBN1","SPTLC1","SRCAP","SRPX2","SSR4","ST3GAL5","STAC3","STAG1","STAG2","STAMBP","STAT5B","STIL","STT3A","STT3B","STX1A","STXBP1","SUCLA2","SUCLG1","SUFU","SUMF1","SUOX","SUPT16H","SVBP","SYNE1","SYNGAP1","SYNJ1","SZT2","TAF1","TAF13","TAF2","TAF6","TANC2","TANGO2","TAPT1","TARS1","TASP1","TAT","TBC1D20","TBC1D23","TBC1D24","TBCD","TBCE","TBCK","TBL1XR1","TBL2","TBX1","TBX4","TBX6","TCF4","TCTN1","TCTN2","TCTN3","TDGF1","TDP2","TECPR2","TELO2","TERT","TET3","TFAP2A","TGIF1","THOC2","THOC6","THUMPD1","TIMMDC1","TINF2","TLK2","TMCO1","TMEM107","TMEM126B","TMEM163","TMEM165","TMEM216","TMEM222","TMEM231","TMEM237","TMEM260","TMEM270","TMEM67","TMEM70","TMTC3","TMX2","TNPO2","TNRC6B","TOE1","TOP3A","TOR1A","TP53","TP53RK","TPK1","TPRKB","TRAIP","TRAK1","TRAPPC10","TRAPPC11","TRAPPC12","TRAPPC14","TRAPPC2L","TRAPPC4","TRAPPC6B","TRAPPC9","TREX1","TRIM8","TRIO","TRIP12","TRIP13","TRIT1","TRMT1","TRMT10A","TRPS1","TRRAP","TSEN15","TSEN2","TSEN34","TSEN54","TSPAN12","TSPEAR","TSR2","TTC5","TTI2","TUBA1A","TUBB","TUBB2B","TUBB3","TUBB4A","TUBG1","TUBGCP2","TUBGCP4","TUBGCP6","TUFM","TUSC3","TXN2","TXNDC15","TYMS","UBA5","UBE2T","UBE3A","UBE3B","UBE4B","UBR1","UBTF","UFC1","UFD1","UFM1","UFSP2","UGDH","UGP2","UNC80","UPB1","UQCRC2","USP18","USP7","VAC14","VARS1","VARS2","VIPAS39","VPS11","VPS13B","VPS13D","VPS33A","VPS33B","VPS37A","VPS37D","VPS4A","VPS50","VPS51","VPS53","VRK1","WARS1","WASHC4","WBP11","WDFY3","WDR11","WDR26","WDR37","WDR4","WDR45B","WDR62","WDR73","WLS","WT1","WWOX","XPA","XPC","XPR1","XRCC2","XRCC4","XYLT1","YARS1","YARS2","YIF1B","YIPF5","YME1L1","YRDC","YWHAG","ZBTB11","ZBTB18","ZC4H2","ZEB2","ZIC1","ZIC2","ZMYM2","ZNF148","ZNF292","ZNF335","ZNF408","ZNF526","ZNF592","ZNF668","ZNF699","ZNHIT3","ZPR1","ZSWIM6","ZSWIM7"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MILD_MICROCEPHALY":{"collection":"C5:HPO","systematicName":"M38605","pmid":"","exactSource":"HP:0040196","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0040196","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MILD_MICROCEPHALY","geneSymbols":["ASPA","CEP85L","COG6","CWF19L1","GATA6","GRIN2B","LARP7","OCA2","PLAG1","RIC1","SDHA","SDHAF1","SDHB","SDHD","THOC6","TRAPPC9","UBE3A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ENCEPHALOMALACIA":{"collection":"C5:HPO","systematicName":"M38606","pmid":"","exactSource":"HP:0040197","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0040197","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ENCEPHALOMALACIA","geneSymbols":["ABCC6","ALX4","ANGPTL6","COL3A1","DNMT3A","ENG","ENPP1","MICU1","MSX2","TGFBR3","THSD1","ZNFX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NON_MEDULLARY_THYROID_CARCINOMA":{"collection":"C5:HPO","systematicName":"M38607","pmid":"","exactSource":"HP:0040198","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0040198","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NON_MEDULLARY_THYROID_CARCINOMA","geneSymbols":["HABP2","HRAS","MINPP1","NKX2-1","NRAS","SRGAP1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CONSUMPTION_BEHAVIOR":{"collection":"C5:HPO","systematicName":"M38608","pmid":"","exactSource":"HP:0040202","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0040202","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CONSUMPTION_BEHAVIOR","geneSymbols":["ABCC8","ACAT1","ADCY3","ADNP","AGPAT2","AGRN","ALMS1","AQP2","ARID1A","ARID1B","ARID2","ARNT2","ASH1L","ATP10A","ATP5F1B","AVP","AVPR2","BBS9","BRAF","BSCL2","BSND","CACNA1A","CACNA1D","CASR","CASZ1","CDC73","CDK13","CHAT","CHD8","CISD2","CLCNKB","CLDN10","CLDN16","COL13A1","CTNNB1","CTNS","CYP11B1","CYP11B2","DCDC2","DHPS","DNM1","DPF2","DPYD","DZIP1L","ELP2","EZH2","FGFR1","FOXG1","GABRD","GNAS","GPR101","GRB10","GRN","HERC2","HESX1","HNF1A","HNF1B","HPSE2","HSD11B2","HSPG2","HTT","IFT74","IL6","INSR","IRF4","ITPR3","KCNAB2","KCNJ1","KCNJ10","KCNJ11","KCNJ5","KL","LARP7","LEP","LEPR","LRIG2","LUZP1","LZTFL1","MAGEL2","MAN1B1","MAPT","MBD5","MC4R","MEIS2","MEN1","MKRN3","MMP23B","MN1","MYO9A","MYT1L","NDN","NEXMIF","NKX2-1","NLRP3","NPAP1","NPHP1","NPHP3","NPHP4","NTRK2","OCA2","OTX2","PACS1","PCDH19","PCSK1","PDPN","PDSS1","PGM2L1","PKHD1","PLA2G6","POMC","PRDM16","PREPL","PRKCZ","PROKR2","PSEN1","PTPN22","PWAR1","PWRN1","RERE","RFX7","SATB2","SCN4A","SETD2","SH2B1","SIM1","SKI","SLC12A3","SLC18A3","SLC25A1","SLC25A13","SLC2A3","SLC3A1","SLC41A1","SLC5A2","SLC5A7","SLC7A7","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SNAP25","SNORD115-1","SNORD116-1","SNRPN","SOX11","SOX2","SOX3","SOX4","SPEN","SUPT16H","SYNGAP1","SYT2","TMEM67","TRANK1","UBE3A","UBE4B","UCP2","VAMP1","WFS1","YY1","ZNF699","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_SKIN_MORPHOLOGY_OF_THE_PALM":{"collection":"C5:HPO","systematicName":"M38609","pmid":"","exactSource":"HP:0040211","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0040211","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SKIN_MORPHOLOGY_OF_THE_PALM","geneSymbols":["AAAS","AAGAB","ABCA12","ABCC9","ACTC1","ACTN2","ACVRL1","ADAMTSL1","ADNP","AFF3","AIP","AKT1","ALDH6A1","ALOX12B","ALOXE3","ANKRD1","ANKRD11","AP1B1","APC","AQP5","ARID1B","ARL3","ASXL1","ASXL2","ASXL3","ATP2A2","ATP6V0A2","ATP6V1B2","ATR","AUTS2","B3GLCT","B4GALT7","BAG3","BAG5","BCOR","BHLHA9","BICD2","BMP4","BMPR1B","BRAF","BRD4","BRF1","C1R","CAP2","CARD14","CAST","CCBE1","CCNQ","CD28","CD4","CD96","CDC42BPB","CDK10","CDK19","CDSN","CEP55","CEP57","CERS3","CFTR","CHD7","CHST14","CHST3","CIB1","CILK1","CKAP2L","CLCN7","COG1","COG6","COL14A1","COL17A1","COL7A1","COX14","COX7B","CPLX1","CREBBP","CRYAB","CSGALNACT1","CSNK2A1","CSRP3","CST6","CSTA","CTBP1","CTC1","CTCF","CTLA4","CTSB","CTSC","CYP4F22","DDX11","DES","DHX30","DIS3L2","DKC1","DLK1","DLX4","DMD","DOCK6","DOK7","DOLK","DPAGT1","DPH1","DPH2","DPYD","DSC2","DSE","DSG1","DSG2","DSP","DST","EHMT1","ENPP1","EP300","ESCO2","EXT1","EXTL3","EZH2","FBXO28","FERMT1","FGD1","FGF9","FGFR2","FGFR3","FGFRL1","FHL2","FIG4","FKTN","FLG","FLNA","FOXP1","G6PC3","GATA1","GATAD1","GDF5","GJA1","GJA5","GJA8","GJB2","GJB3","GJB4","GJB6","GLE1","GLYCTK","GMPPA","GNB2","GPR101","GPR35","GRHL2","GRIN1","H3-3A","H4C9","HAND2","HCCS","HDAC4","HDAC8","HNRNPK","HPGD","HRAS","IFT122","IFT43","IFT57","IGF1","ITCH","ITGB4","IVNS1ABP","JARID2","JPH2","JUP","KANK2","KAT6B","KATNB1","KCNH1","KCNK9","KCNMA1","KCNN3","KDF1","KDM4B","KDSR","KIF21A","KLHL24","KLLN","KMT2D","KRAS","KRT1","KRT10","KRT14","KRT16","KRT17","KRT2","KRT5","KRT6A","KRT6B","KRT6C","KRT74","KRT83","KRT9","LAMA3","LAMA4","LAMB3","LAMC2","LBR","LDB3","LETM1","LIFR","LMNA","LMOD2","LMX1B","LONP1","LORICRIN","LSS","LTBP1","LTBP4","LZTR1","MAP1B","MAP2K1","MAP2K2","MAP3K7","MBTPS2","MCOLN1","MCTP2","MED12","MED25","MEF2C","MEG3","MEGF8","MMP1","MRAS","MSL3","MST1","MT-TS1","MTFMT","MTOR","MTX2","MUSK","MYBPC3","MYH3","MYH6","MYH7","MYOD1","MYPN","NAA10","NAA20","NALCN","NBAS","NDUFB11","NECTIN1","NECTIN4","NEXMIF","NEXN","NGLY1","NHP2","NIPAL4","NIPBL","NLRP1","NOG","NOP10","NPM1","NSD2","NSDHL","NUP107","NUP188","NUP88","NXN","OTUD5","PACS1","PARN","PDGFRB","PDHA1","PEPD","PERP","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PGM2L1","PIEZO2","PIGL","PIGS","PIK3CA","PKDCC","PKP1","PLAA","PLEC","PLN","PLOD1","PLOD3","PNPLA1","PNPLA6","POFUT1","POGLUT1","POLRMT","POMP","PORCN","PPCS","PPP2CA","PPP2R3C","PPP3CA","PRDM16","PRR12","PSEN1","PSEN2","PSENEN","PTCH1","PTCH2","PTEN","PTPRF","PUF60","RAB11B","RAD21","RAF1","RAPSN","RBM10","RBM20","RHBDF2","RIN2","RIPK4","RIT1","RNU4ATAC","ROR2","RPL10","RPL3L","RPS23","RPS6KA3","RSPO1","RTEL1","RTL1","SASH1","SCN5A","SDHA","SDHB","SDHC","SDHD","SDR9C7","SEC23B","SEMA4D","SEPSECS","SERPINA12","SERPINB7","SET","SETBP1","SGCD","SHOC2","SLC18A3","SLC25A12","SLC25A24","SLC39A13","SLCO2A1","SLURP1","SMAD2","SMARCA2","SMARCAD1","SMC1A","SMC3","SMC5","SMOC1","SMPD4","SMS","SNAP29","SOX18","SPECC1L","SPRED2","SPRTN","SPTBN1","SRD5A3","STAG1","STS","STXBP1","SUFU","SULT2B1","TAF1A","TAF6","TAFAZZIN","TASP1","TAT","TBL1XR1","TBX4","TCAP","TCF12","TCF4","TELO2","TERC","TERT","TFAP2A","TGDS","TGM1","TGM5","THOC2","TINF2","TMEM147","TMPO","TNFRSF1B","TNNC1","TNNI2","TNNI3","TNNT2","TNNT3","TOE1","TP63","TPM1","TPM2","TRAPPC11","TRIM37","TRIM8","TRIO","TRPM4","TRPS1","TRPV3","TSEN15","TSEN2","TSEN34","TSEN54","TTN","TUBA1A","TWIST1","TXNRD2","TYMS","UBE3B","UBR1","UBR7","UFC1","USB1","USF3","VAC14","VCL","VEZF1","VPS13B","VPS33A","VPS33B","VPS51","WAC","WDR37","WNT10A","WRAP53","XYLT1","YY1","ZC4H2","ZMYM2","ZNF292","ZNF462","ZNF469"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CIRCULATING_INSULIN_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M38610","pmid":"","exactSource":"HP:0040214","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0040214","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_INSULIN_CONCENTRATION","geneSymbols":["ABCA4","ABCC8","ADCY3","AGBL5","AGPAT2","AHI1","AHR","AKT2","ALMS1","APPL1","ARHGEF18","ARL2BP","ARL3","ARL6","BBS1","BBS2","BEST1","BLK","BSCL2","CA4","CAV1","CAVIN1","CC2D2A","CDHR1","CDKN1B","CEL","CERKL","CFAP418","CLRN1","CNGA1","CNGB1","CPE","CRB1","CRX","DBH","DCAF17","DHDDS","DHX38","DIS3L2","DMXL2","ESR1","EYS","FAM161A","FOCAD","FOS","FSCN2","GALK1","GCK","GLUD1","GUCA1B","HADH","HERC2","HGSNAT","HNF1A","HNF4A","HYMAI","IDH3A","IDH3B","IFT140","IFT172","IFT88","IMPDH1","IMPG1","IMPG2","INS","INSR","KCNJ11","KIAA1549","KIZ","KLF11","KLHL7","LEP","LEPR","LMNA","LRAT","MAFA","MAGEL2","MAK","MC4R","MEN1","MERTK","MKRN3","MPI","NAB2","NEK2","NEUROD1","NPAP1","NR2E3","NRL","OFD1","PAPPA2","PAX4","PCARE","PCSK1","PDE6A","PDE6B","PDE6G","PDX1","PLAGL1","PLIN1","PMM2","POMC","POMGNT1","PPARG","PRCD","PROM1","PRPF3","PRPF31","PRPF4","PRPF6","PRPF8","PRPH2","PWAR1","PWRN1","RBP3","RDH12","REEP6","RGR","RHO","RLBP1","RNF125","ROM1","RP1","RP1L1","RP2","RP9","RPE65","RPGR","SAG","SCAPER","SECISBP2","SEMA4A","SH2B1","SIM1","SLC16A1","SLC25A36","SLC5A2","SLC7A14","SMC5","SNORD115-1","SNORD116-1","SNRNP200","SPATA7","STAT6","TOPORS","TRMT10A","TTC8","TUB","TULP1","UCP2","USH2A","YY1","ZFP57","ZMPSTE24","ZNF408","ZNF513"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPOINSULINEMIA":{"collection":"C5:HPO","systematicName":"M38611","pmid":"","exactSource":"HP:0040216","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0040216","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOINSULINEMIA","geneSymbols":["ABCC8","AKT2","APPL1","BLK","CEL","DMXL2","GCK","HNF1A","HNF4A","HYMAI","INS","KCNJ11","KLF11","NAB2","NEUROD1","PAX4","PCSK1","PDX1","PLAGL1","RNF125","STAT6","ZFP57"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ELEVATED_HEMOGLOBIN_A1C":{"collection":"C5:HPO","systematicName":"M38612","pmid":"","exactSource":"HP:0040217","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0040217","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELEVATED_HEMOGLOBIN_A1C","geneSymbols":["ABCC8","APPL1","BLK","BLM","BSCL2","CEL","CELA2A","DMXL2","DNAJC3","GCK","HNF1A","HNF4A","INS","KCNJ11","KLF11","MTX2","NARS2","NEUROD1","NSMCE2","PAX4","PDX1","SLC5A2","TRMT5","WRN","YIPF5"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_REDUCED_NATURAL_KILLER_CELL_COUNT":{"collection":"C5:HPO","systematicName":"M41608","pmid":"","exactSource":"HP:0040218","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0040218","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_NATURAL_KILLER_CELL_COUNT","geneSymbols":["AP3B1","B2M","CD70","DCLRE1B","DNMT3B","DOCK8","ELF4","FCGR3A","GATA2","IKBKB","IL2RG","IL6ST","KNSTRN","MCM10","MCM4","NLRC4","PGM3","PIK3CD","PIK3CG","PIK3R1","PTPRC","RIPK1","SASH3","SYK","TOM1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_SIZE_OF_THE_DENTAL_ROOT":{"collection":"C5:HPO","systematicName":"M43567","pmid":"","exactSource":"HP:0040220","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0040220","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SIZE_OF_THE_DENTAL_ROOT","geneSymbols":["AXIN2","BCOR","EDA","EDARADD","FGFR1","IFIH1","IRF6","LRP6","MSX1","PAX9","SMOC2","SUMO1","TGFA","TONSL","WNT10A","WNT10B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PULMONARY_HEMORRHAGE":{"collection":"C5:HPO","systematicName":"M38613","pmid":"","exactSource":"HP:0040223","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0040223","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PULMONARY_HEMORRHAGE","geneSymbols":["BCOR","COL3A1","COPA","CTCF","CTLA4","EIF2AK4","ENG","FIP1L1","HLA-DPA1","HLA-DPB1","HMOX1","IRF2BP2","NABP1","NLRC4","NPM1","NUMA1","PML","PRKAR1A","PRTN3","PTPN22","RARA","SLC35A1","SLC7A7","SP110","STAT3","STAT5B","TBL1XR1","WAS","WIPF1","ZBTB16","ZNFX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_IMPAIRED_NEUTROPHIL_CHEMOTAXIS":{"collection":"C5:HPO","systematicName":"M47326","pmid":"","exactSource":"HP:0040238","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0040238","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRED_NEUTROPHIL_CHEMOTAXIS","geneSymbols":["CEBPE","DNAJC21","EFL1","LCP2","PMM2","RAC2","SBDS","SRP54"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INCREASED_SIZE_OF_THE_CLITORIS":{"collection":"C5:HPO","systematicName":"M47327","pmid":"","exactSource":"HP:0040253","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0040253","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_SIZE_OF_THE_CLITORIS","geneSymbols":["AGPAT2","AR","ARID1B","ATIC","ATR","BSCL2","CAV1","CAVIN1","CCNQ","CD96","CDC45","CDC6","CDT1","CEP152","COX7B","CYP11A1","CYP11B1","DHCR7","DHX37","DMRT3","ESCO2","FDXR","FGFR2","FIG4","FOS","FRAS1","GAD1","GATA4","GMNN","HCCS","HSD3B2","INSR","KAT6B","MAP3K1","MED25","MINPP1","NDUFB11","NR0B1","NR5A1","ORC1","ORC4","ORC6","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","POR","PPARG","PPP1R12A","RSPO1","SOX9","SRY","TALDO1","TOE1","TRAIP","UBE3B","UBR1","VAC14","VAMP7","WT1","WWOX","ZFPM2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APLASIA_HYPOPLASIA_OF_THE_CLITORIS":{"collection":"C5:HPO","systematicName":"M47328","pmid":"","exactSource":"HP:0040255","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0040255","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_CLITORIS","geneSymbols":["B3GLCT","CDC45","CDC6","CDT1","DVL1","DVL3","FZD2","GMNN","HERC2","MAGEL2","MKRN3","NDN","NPAP1","OCA2","ORC1","ORC4","ORC6","POC1A","PORCN","PPP2R3C","PWAR1","PWRN1","RAB18","RAB3GAP1","RAB3GAP2","ROR2","SIM1","SNORD115-1","SNORD116-1","SNRPN","TBC1D20","WNT5A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_IMPAIRED_GLUCOSE_TOLERANCE":{"collection":"C5:HPO","systematicName":"M38615","pmid":"","exactSource":"HP:0040270","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0040270","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRED_GLUCOSE_TOLERANCE","geneSymbols":["ABCC8","AIP","APPL1","ATRX","BLK","BRAF","CAV1","CDH23","CEL","ESR1","GCK","HNF1A","HNF1B","HNF4A","IFT172","INS","INSR","KCNJ11","KLF11","LMNA","LRP6","MAFA","NEUROD1","NR3C1","NSMCE2","PAX4","PDX1","POLG2","PSMB8","SLC2A2","SLC40A1","SLC5A1","SLC5A2","TP53","USP48","USP8","WFS1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ADENOCARCINOMA_OF_THE_INTESTINES":{"collection":"C5:HPO","systematicName":"M38616","pmid":"","exactSource":"HP:0040273","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0040273","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ADENOCARCINOMA_OF_THE_INTESTINES","geneSymbols":["AAGAB","ADA2","APC","BMPR1A","COL14A1","GATA1","GPR35","GREM1","HEATR3","MAD1L1","MLH1","MSH2","MST1","MUTYH","NTHL1","POLD1","POLE","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS7","SEMA4D","SMAD4","TCF4","TSR2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ADENOCARCINOMA_OF_THE_SMALL_INTESTINE":{"collection":"C5:HPO","systematicName":"M43568","pmid":"","exactSource":"HP:0040274","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0040274","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ADENOCARCINOMA_OF_THE_SMALL_INTESTINE","geneSymbols":["AAGAB","APC","BMPR1A","COL14A1","GREM1","MLH1","MSH2","NTHL1","SMAD4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ADENOCARCINOMA_OF_THE_COLON":{"collection":"C5:HPO","systematicName":"M43569","pmid":"","exactSource":"HP:0040276","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0040276","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ADENOCARCINOMA_OF_THE_COLON","geneSymbols":["AAGAB","ADA2","BMPR1A","COL14A1","GATA1","GREM1","HEATR3","MAD1L1","MLH1","MUTYH","POLD1","POLE","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS7","TSR2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NEOPLASM_OF_THE_PITUITARY_GLAND":{"collection":"C5:HPO","systematicName":"M38619","pmid":"","exactSource":"HP:0040277","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0040277","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_PITUITARY_GLAND","geneSymbols":["AIP","AKT1","ALG5","ALG9","APC","ARMC5","ATRX","BAP1","BICC1","BMPR1A","BRAF","CDH23","CDKN1A","CDKN1B","CDKN2B","CDKN2C","COQ6","CTNNB1","DNAJB11","EPCAM","FAN1","GANAB","GNAS","GPR101","IDH1","IDH2","IFNG","IFT140","KRAS","LZTR1","MEN1","MLH1","MLH3","MSH2","MSH6","NF2","NR3C1","PDE11A","PDGFB","PIK3CA","PKD1","PKD2","PMS1","PMS2","PRKAR1A","RPS20","SEMA4A","SMARCB1","SMARCE1","SMO","SUFU","TERT","TGFBR2","TP53","TRAF7","TSC1","TSC2","USP48","USP8","YY1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NASOGASTRIC_TUBE_FEEDING":{"collection":"C5:HPO","systematicName":"M38620","pmid":"","exactSource":"HP:0040288","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0040288","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NASOGASTRIC_TUBE_FEEDING","geneSymbols":["AASS","ABCD1","ACSF3","ACTA1","ALG2","ANAPC1","ASPA","ASXL3","BSND","CARS2","CLCNKA","CLCNKB","COL4A5","COL4A6","DPM2","EPM2A","FOXP3","GNB2","GRIN1","HECW2","KCNK9","KNSTRN","MAGEL2","MFF","MOGS","MPDU1","MYL1","NACC1","NHLRC1","NONO","PACS1","PIK3CD","PLP1","PSAT1","PTCD3","RECQL4","SIM1","SLC35A2","SRCAP","VPS50","WAC","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CIRCULATING_FREE_FATTY_ACID_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M43570","pmid":"","exactSource":"HP:0040300","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0040300","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_FREE_FATTY_ACID_CONCENTRATION","geneSymbols":["ABCC8","ACADVL","AKT2","DOLK","GLYCTK","HADH","HNF1A","KCNJ11","UCP2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DECREASED_SERUM_IRON":{"collection":"C5:HPO","systematicName":"M38621","pmid":"","exactSource":"HP:0040303","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0040303","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_SERUM_IRON","geneSymbols":["CARD9","COL7A1","CP","FOXP1","PIGA","SKIC2","TRNT1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MALE_SEXUAL_DYSFUNCTION":{"collection":"C5:HPO","systematicName":"M38622","pmid":"","exactSource":"HP:0040307","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0040307","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MALE_SEXUAL_DYSFUNCTION","geneSymbols":["ABCD1","AIP","AKT1","ANOS1","AR","ATXN8OS","BAP1","BMP2","BMP6","CACNA1G","CCDC141","CDH23","CDKN1A","CDKN1B","CDKN2B","CDKN2C","CHD7","COQ2","DCC","DNAJC6","DUSP6","FEZF1","FGF17","FGF8","FGFR1","FLRT3","FMR1","GALC","GNRH1","GNRHR","GPR101","GUCY1A1","HAMP","HBB","HESX1","HEXB","HFE","HJV","HS6ST1","HTRA2","IL17RD","IRF4","KISS1","KISS1R","LMNB1","LRRK2","MEN1","NDNF","NDP","NF2","NHLH2","NSMF","PARK7","PDGFB","PIGA","PIK3CA","PINK1","PODXL","PRKN","PROK2","PROKR2","RTN2","SACS","SEMA3A","SLC40A1","SMARCB1","SMARCE1","SMO","SNCA","SOX10","SPRY4","SUFU","SYNJ1","TAC3","TACR3","TERT","TFR2","TRAF7","TTR","UBAP1","UCHL1","VPS13C","WDR11"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_OLIGOARTHRITIS":{"collection":"C5:HPO","systematicName":"M43571","pmid":"","exactSource":"HP:0040313","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0040313","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OLIGOARTHRITIS","geneSymbols":["ANKRD55","CD247","HLA-B","IL2RA","IL2RB","IL36RN","MEFV","PTPN2","PTPN22","STAT4","TNFRSF1A","TOM1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BLIND_VAGINA":{"collection":"C5:HPO","systematicName":"M43572","pmid":"","exactSource":"HP:0040314","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0040314","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BLIND_VAGINA","geneSymbols":["AR","CYP17A1","MAMLD1","MTM1","WT1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DARK_URINE":{"collection":"C5:HPO","systematicName":"M41609","pmid":"","exactSource":"HP:0040319","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0040319","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DARK_URINE","geneSymbols":["AKR1D1","ATP11C","CPOX","HMBS","IRAK1","LPIN1","MT-CO1","MT-CO3","OBSCN","PYGM","SAT1","SPP1","STAT4","TTC26"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPOPLASIA_OF_THE_OLFACTORY_BULB":{"collection":"C5:HPO","systematicName":"M41610","pmid":"","exactSource":"HP:0040326","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0040326","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASIA_OF_THE_OLFACTORY_BULB","geneSymbols":["FOXP2","GSX2","POU3F3","SEMA3A","SMCHD1","TUBB3","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_MORPHOLOGY_OF_THE_OLFACTORY_BULB":{"collection":"C5:HPO","systematicName":"M41611","pmid":"","exactSource":"HP:0040327","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0040327","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MORPHOLOGY_OF_THE_OLFACTORY_BULB","geneSymbols":["CDON","CILK1","COL25A1","DISP1","DLL1","ERBB3","FGF8","FGFR1","FOXH1","FOXP2","GAS1","GLI2","GSX2","KIAA0586","KIF21A","NODAL","PHOX2A","PLCH1","POU3F3","PROK2","PROKR2","PTCH1","SEMA3A","SHH","SIX3","SMC1A","SMCHD1","STAG2","STIL","TDGF1","TGIF1","TUBA1A","TUBB2B","TUBB3","ZIC2","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NEURAL_TUBE_DEFECT":{"collection":"C5:HPO","systematicName":"M47329","pmid":"","exactSource":"HP:0045005","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0045005","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEURAL_TUBE_DEFECT","geneSymbols":["ABCD1","ACTB","AHI1","AIPL1","ALG3","ALX1","ALX3","ALX4","AMER1","ARHGAP31","ARID1B","ARL13B","ARL3","ARMC9","ARPC4","ARSB","ARVCF","ATP6V1B2","B3GALNT2","B3GLCT","B4GAT1","B9D1","B9D2","BAZ1B","BCL7B","BICD2","BMP2","BMPER","BMS1","BRAF","BRCA1","BRCA2","BRIP1","BTD","BUD23","C2CD3","CBY1","CC2D2A","CCBE1","CCL2","CCNQ","CDH1","CDK13","CDON","CEP104","CEP120","CEP290","CEP41","CEP55","CHN1","CHRNG","CLIP2","COL18A1","COL2A1","COLEC10","COLEC11","COMT","CPLANE1","CRB1","CREBBP","CRPPA","CRX","CSPP1","CUL7","CYP26B1","CYP27A1","DACT1","DARS1","DISP1","DKK1","DLK1","DLL1","DLL3","DLL4","DNAJC30","DOCK6","EIF4H","ELN","EOGT","EP300","ERCC4","ESCO2","EXT1","EXT2","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FGF8","FGFR1","FGFR3","FIBP","FKBP6","FKRP","FKTN","FLI1","FLNA","FLNB","FLVCR2","FOXH1","FRAS1","FREM2","FUZ","GALNS","GAS1","GDF3","GDF6","GJA1","GLB1","GLI2","GLI3","GMPPB","GNPTAB","GP1BB","GPKOW","GRIP1","GTF2I","GTF2IRD1","GTF2IRD2","GUCY2D","H19","HAAO","HES7","HIRA","HMX1","HNRNPK","HOXD13","HRAS","HSPG2","HYLS1","IFT140","IFT74","IGF2","IKBKG","IMPDH1","INPP5E","IQCB1","IRF6","ITGB4","JMJD1C","KANSL1","KATNIP","KCNH1","KCNJ13","KCNQ1OT1","KIAA0586","KIAA0753","KIF22","KIF7","LAMB1","LARGE1","LCA5","LFNG","LIG4","LIMK1","LMX1B","LRAT","MAD2L2","MAFB","MAP3K7","MASP1","MEG3","MEOX1","MESP2","METTL27","MKS1","MLXIPL","MSX2","MTHFD1","MTHFR","MTR","MTRR","MYH3","NAXE","NCF1","NDE1","NEK9","NF1","NF2","NMNAT1","NODAL","NOTCH1","NOTCH2NLC","NOTCH3","NPHP1","NSUN2","NUAK2","OFD1","PAK2","PALB2","PAX3","PCYT1A","PDE6D","PHGDH","PIBF1","PIK3CA","PLCH1","PLEC","POLA1","POLR1B","POLR1C","POLR1D","POMGNT1","POMK","POMT1","POMT2","PORCN","PSAT1","PTCH1","PTDSS1","PTPN11","PUF60","RAB23","RAD51","RAD51C","RAF1","RASA1","RBM8A","RBPJ","RD3","RDH12","RECQL4","RFC2","RFWD3","RIPPLY2","RMRP","RORA","RPE65","RPGRIP1","RPGRIP1L","RPS19","RREB1","RTL1","RUNX2","RXYLT1","SALL4","SC5D","SEC24C","SETBP1","SF3B2","SHH","SIN3A","SIX3","SLC25A19","SLX4","SMC1A","SMO","SNRPB","SOX9","SPATA7","STAG2","STIL","STX1A","SUFU","SUPT16H","TBC1D24","TBL2","TBX1","TBX15","TBX6","TBXT","TCOF1","TCTN1","TCTN2","TCTN3","TDGF1","TGIF1","TMEM107","TMEM138","TMEM216","TMEM218","TMEM231","TMEM237","TMEM270","TMEM67","TMTC3","TNXB","TOGARAM1","TRIM36","TUBB4B","TULP1","TXNDC15","UBA2","UBE2T","UFD1","USP45","VANGL1","VANGL2","VPS37D","VSX1","WBP11","WDR81","WNT7A","XRCC2","ZIC1","ZIC2","ZIC3","ZNF423","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_SUBSTANTIA_NIGRA_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M38623","pmid":"","exactSource":"HP:0045007","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0045007","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SUBSTANTIA_NIGRA_MORPHOLOGY","geneSymbols":["ADH1C","ATXN2","ATXN3","ATXN8OS","FBXO7","FTL","GBA1","GCH1","GLUD2","GTPBP2","IMPDH2","LRRK2","MAPT","MT-TT","NR4A2","PRKN","SLC44A1","SNCA","SNCAIP","SPG11","TBCE","TBP","VPS41","WDR45"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPOLIPIDEMIA":{"collection":"C5:HPO","systematicName":"M38626","pmid":"","exactSource":"HP:0045014","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0045014","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOLIPIDEMIA","geneSymbols":["ACOX2","ANGPTL3","APOC3","CCT5","CETP","GALNT2","MTTP","NGLY1","PCYT1A","SAR1B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CONGENITAL_MALFORMATION_OF_THE_LEFT_HEART":{"collection":"C5:HPO","systematicName":"M38627","pmid":"","exactSource":"HP:0045017","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0045017","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONGENITAL_MALFORMATION_OF_THE_LEFT_HEART","geneSymbols":["ANKRD11","ARHGAP31","B3GLCT","CCDC22","CDK8","CFAP53","CIROP","COQ4","CPLANE1","CREBBP","DPYSL5","DTNA","EP300","FLI1","FOXF1","GATA4","GATA5","GATA6","GJA1","GNB2","H3-3B","HAAO","IFT27","KYNU","MCTP2","MKKS","MYRF","NADSYN1","NKX2-5","NOTCH1","NR2F2","PAH","PKD1L1","PLXND1","POLR3A","SMAD6","SPOP","STAG2","TBX1","TBX5","TMEM218","TRAF7","VPS35L","WASHC5","WT1","ZIC3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NARROW_PALPEBRAL_FISSURE":{"collection":"C5:HPO","systematicName":"M38628","pmid":"","exactSource":"HP:0045025","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0045025","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NARROW_PALPEBRAL_FISSURE","geneSymbols":["ADNP","ARID2","B3GLCT","B9D2","BICRA","CACNA1G","CDC42BPB","CEP55","DDR2","DDX6","DGCR2","DGCR6","DGCR8","DLK1","DNMT3A","DOCK6","EBP","EDEM3","EFEMP2","ESS2","FAT4","FRA10AC1","GABRA3","GATAD2B","GPC6","HDAC4","HSPG2","INTS1","KCTD1","KDM4B","KIF26A","KMT2A","KPTN","LARP7","MAPK8IP3","MAPKAPK5","MED13","MEG3","MYCN","PCGF2","PCNT","PDE4D","PGM3","PHF6","POLR3A","PYCR1","RBMX","RECQL4","RFX7","RPL10","RTL1","SLC6A17","SMAD4","SMARCA2","SPEN","SPOP","SRCAP","TBL1XR1","TBX1","TBX15","TENM3","TRIP12","TRMT1","WDR35","ZMYM2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_THORACIC_CAVITY":{"collection":"C5:HPO","systematicName":"M38629","pmid":"","exactSource":"HP:0045027","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0045027","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_THORACIC_CAVITY","geneSymbols":["AGR2","AKT1","APOE","BAP1","BCL10","BCL2","BCL6","BIRC3","BRD4","BTNL2","CYBA","CYBB","CYBC1","DNAJC21","EFEMP2","EFL1","EIF2AK4","EWSR1","FBLN5","FOXP1","GLMN","GNPTAB","HLA-B","HLA-DPB1","HLA-DRB1","IRF4","LTBP1","MAGT1","MALT1","NAB2","NCF1","NCF2","NCF4","NF2","NUTM1","P4HA2","PDGFB","PIK3CA","PIK3CG","PORCN","PRKCD","PTPN22","RASGRP1","RHBDF2","SBDS","SMARCB1","SMARCE1","SMO","SRP54","STAT6","SUFU","TERT","TRAF7","WT1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MICROLISSENCEPHALY":{"collection":"C5:HPO","systematicName":"M46385","pmid":"","exactSource":"HP:0045028","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0045028","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MICROLISSENCEPHALY","geneSymbols":["CIT","KATNB1","KIF14","NDE1","RELN","RNU4ATAC"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_JAW_MUSCLES":{"collection":"C5:HPO","systematicName":"M45506","pmid":"","exactSource":"HP:0045037","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0045037","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_JAW_MUSCLES","geneSymbols":["ADGRG1","AGRN","AK9","ATXN1","CACNA1S","CHRNA1","CHRNB1","CHRND","CHRNE","COL13A1","DOK7","FLNC","GIPC1","IRF6","LPIN1","LRP12","LRP4","MSX1","MT-CO1","MT-CO3","MUSK","NECTIN1","NOTCH2NLC","OBSCN","PI4KA","RAPSN","RILPL1","RYR1","SCN4A","SRPX2","TP63"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_OSTEOLYSIS_INVOLVING_BONES_OF_THE_UPPER_LIMBS":{"collection":"C5:HPO","systematicName":"M38631","pmid":"","exactSource":"HP:0045039","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0045039","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OSTEOLYSIS_INVOLVING_BONES_OF_THE_UPPER_LIMBS","geneSymbols":["ASAH1","ATL3","BANF1","COL3A1","CTSC","CTSK","DDR2","FLNA","HPGD","IFIH1","KIF1A","LMNA","MAFB","MMP14","MMP2","MTX2","NOTCH2","PDGFRB","RETREG1","RIGI","SCN9A","WNK1","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_LACTATE_DEHYDROGENASE_LEVEL":{"collection":"C5:HPO","systematicName":"M38632","pmid":"","exactSource":"HP:0045040","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0045040","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LACTATE_DEHYDROGENASE_LEVEL","geneSymbols":["ABCG8","ACAD9","ACADM","AIFM1","AKR1D1","ALDOA","B3GALNT2","B4GAT1","CALR","CAV3","CBLIF","CD46","CDAN1","CFH","CFI","CHEK2","COL4A1","CPT2","CRPPA","DAG1","DHFR","FKRP","FKTN","FLI1","GAA","GATA1","GATA2","HBB","HELLPAR","HLA-DRB1","HMGCS2","HMOX1","INPP5K","IRAK1","JAK2","KCNN4","KIF23","KLF1","KY","LARGE1","LDHA","LDHB","LIPA","LPIN1","LYST","MLIP","MPL","MT-CO1","MT-CO3","MTHFD1","MVK","MYC","NSUN2","OBSCN","OCRL","PEX2","PFKM","PIEZO1","PIGA","PIK3CG","PITRM1","PLA2G6","PLEC","PNPLA2","POMGNT1","POMGNT2","POMK","POMT1","POMT2","RB1","RHAG","RHCE","RHD","RPS14","RXYLT1","SAT1","SIL1","SLC19A1","SLC25A13","SLC4A1","SLC7A7","SPP1","STAT4","STIM1","TCIRG1","TET2","TP53","USB1","VPS13A","XK","ZNFX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DECREASED_CIRCULATING_COMPLEMENT_C4_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M41612","pmid":"","exactSource":"HP:0045042","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0045042","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_CIRCULATING_COMPLEMENT_C4_CONCENTRATION","geneSymbols":["BANK1","BLK","C4A","C4B","CR2","CTLA4","DNASE1","DNASE1L3","ETS1","FCGR2B","FCGR3B","HLA-DRB1","IGHG1","IL10","IRAK1","IRF5","ITGAM","JAZF1","KIAA0319L","MECP2","PDCD1","PRKCD","PTPN22","PXK","SAT1","SERPING1","SPP1","STAT4","TLR7","TNFAIP3","TNFSF4","TNIP1","TREX1","UBE2L3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DECREASED_DLCO":{"collection":"C5:HPO","systematicName":"M47330","pmid":"","exactSource":"HP:0045051","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0045051","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_DLCO","geneSymbols":["ABCC6","COPA","CSF2RA","EIF2AK4","HLA-DRB1","MUC5B","NDUFAF6","PARN","RTEL1","SFTPA1","SFTPA2","SFTPC","SMPD1","TERT","TINF2","XYLT1","XYLT2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_TIGER_TAIL_BANDING":{"collection":"C5:HPO","systematicName":"M38634","pmid":"","exactSource":"HP:0045055","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0045055","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TIGER_TAIL_BANDING","geneSymbols":["AARS1","CARS1","ERCC2","ERCC3","GTF2E2","GTF2H5","MARS1","MPLKIP","RNF113A","TARS1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CIRCULATING_ALPHA_FETOPROTEIN_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M38635","pmid":"","exactSource":"HP:0045056","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0045056","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_ALPHA_FETOPROTEIN_CONCENTRATION","geneSymbols":["AFP","ATM","BCL10","CTNNB1","DGUOK","EARS2","FAH","FGFR3","FLI1","FOCAD","ITGB4","KIF12","KIT","MAD2L2","MET","MKS1","NGLY1","NPHS1","NR1H4","OCRL","PEX6","PIGN","PIK3R5","PKD2","PKHD1","PLEC","PNKP","PRPS1","RNF168","SETX","SLC25A13","STK11","ZBTB20"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_TESTIS_SIZE":{"collection":"C5:HPO","systematicName":"M38636","pmid":"","exactSource":"HP:0045058","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0045058","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_TESTIS_SIZE","geneSymbols":["AGA","AKT1","ALMS1","ANOS1","ARL6","ARX","ATRX","AXL","B4GAT1","BBS1","BRCA1","BRCA2","BRCC3","BRIP1","CATIP","CCDC141","CCDC28B","CCDC34","CDKN1C","CEP112","CFTR","CHD7","CHRM3","CLIC2","CT55","CTDP1","CUL4B","CUL7","CYB5A","CYP11A1","CYP11B1","CYP17A1","CYP19A1","DAZ1","DAZ2","DAZ3","DAZ4","DCAF17","DCC","DDB2","DDX3Y","DHX37","DKC1","DMRT3","DMXL2","DNAH10","DNAJC19","DNHD1","DUSP6","ERCC2","ERCC3","ERCC4","ERCC5","FAM111A","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FBN1","FBXO43","FEZF1","FGF17","FGF8","FGFR1","FLRT3","FMR1","FOXA2","FSHB","GATA4","GBA2","GDF6","GLI2","GLI3","GNAS","GNRH1","GNRHR","H4C5","HDAC8","HESX1","HS6ST1","HSD3B2","HSPG2","IL17RD","IL1RAPL1","KCNJ6","KDM5C","KISS1","KISS1R","KLHL10","LEP","LEPR","LHCGR","LHX4","MAD2L2","MAGEL2","MAP3K1","MAP3K7","MBTPS2","MCM8","MECP2","MED12","MEIOB","MOV10L1","MSH5","NAA10","NANOS1","NDN","NDNF","NF1","NHLH2","NR0B1","NR5A1","NSMF","OCA2","OGT","OTX2","PALB2","PDE11A","PDHA2","PHF6","PHF8","PHGDH","PMM2","PNLDC1","POLA1","POU1F1","PQBP1","PRKAR1A","PROK2","PROKR2","PROP1","PTEN","RAB18","RAD51","RAD51C","RBMX","RBMY1A1","RFWD3","RLIM","RNF113A","RNF212","RPL10","RPL10L","RSPO1","SAMD9","SATB2","SEMA3A","SEMA3E","SHOC1","SIM1","SLC29A3","SLC39A4","SLX4","SNRPN","SOHLH1","SOX10","SOX3","SOX9","SPAG17","SPRY4","SRA1","SRY","STAG3","SYCE1","SYCP3","TAC3","TACR3","TAF4B","TBC1D20","TCTN3","TDRD9","TERB1","TERB2","TEX11","TEX14","TEX15","THOC2","TOGARAM1","TSHB","TSPY1","TYMS","UBE2T","UPF3B","USP9Y","VAMP7","WDR11","WRN","WT1","WWOX","XPA","XPC","XRCC2","ZDHHC9","ZFPM2","ZMYND15","ZPR1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPERKERATOTIC_PAPULE":{"collection":"C5:HPO","systematicName":"M43574","pmid":"","exactSource":"HP:0045059","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0045059","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERKERATOTIC_PAPULE","geneSymbols":["AAGAB","COL14A1","COL7A1","GJB2","GJB6","KRT1","KRT14","KRT5","LRP1","POFUT1","POGLUT1","PSENEN"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SEROSITIS":{"collection":"C5:HPO","systematicName":"M38637","pmid":"","exactSource":"HP:0045073","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0045073","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEROSITIS","geneSymbols":["ACTN4","ANKFY1","ANLN","APOL1","ARHGAP24","ARHGDIA","BANK1","BLK","BRCA1","C4A","C4B","CALR","CCR1","CD2AP","CDC45","CFB","COL4A3","COQ8B","CR2","CRB2","CTLA4","DAAM2","DNASE1","ELANE","EMP2","ERAP1","ETS1","F5","FAS","FCGR2A","FCGR2B","FCGR3B","FOCAD","GAPVD1","HBA1","HBA2","HLA-B","HLA-DPA1","HLA-DPB1","HLA-DRB1","IFNGR1","IGHG1","IL10","IL12A","IL12A-AS1","IL23R","IL6","INF2","IRAK1","IRF4","IRF5","ITGAM","JAK2","JAZF1","KIAA0319L","KLRC4","LACC1","LCK","MAF","MAGI2","MECP2","MEFV","MIF","MVK","MYH11","MYO1E","NOD2","NPHS1","NPHS2","NUP107","NUP133","NUP160","NUP205","NUP37","NUP85","NUP93","P4HA2","PAX2","PDCD1","PLCE1","PMM2","PRG4","PRTN3","PTPN22","PTPRO","PXK","RNU7-1","SPP1","STAT4","TBC1D8B","TLR4","TLR7","TNFAIP3","TNFRSF1A","TNFSF4","TNIP1","TREX1","TRPC6","UBAC2","UBE2L3","WT1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_THIN_EYEBROW":{"collection":"C5:HPO","systematicName":"M38638","pmid":"","exactSource":"HP:0045074","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0045074","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THIN_EYEBROW","geneSymbols":["AASS","AEBP1","ASXL3","ATP1A2","ATP1A3","BCL11B","CACNA1A","CCNK","CDC45","DHX30","EPS8L3","KAT6A","KDM4B","KREMEN1","MBTPS2","PEX1","PEX6","RBL2","RNU4ATAC","SLC1A3","STAG1","TGDS","TRPS1","UBE3B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SPARSE_EYEBROW":{"collection":"C5:HPO","systematicName":"M38639","pmid":"","exactSource":"HP:0045075","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0045075","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPARSE_EYEBROW","geneSymbols":["AARS1","ALX1","ALX4","ANTXR1","APCDD1","ATAD3A","ATR","B4GALT7","BANF1","BRF1","CDC42","CDC42BPB","CDH3","CEP120","CHST3","CLDN1","COG6","COL11A1","CRIPT","CWC27","DDX3X","DLX4","DOLK","DPH1","DPH2","DPH5","DSC3","DSG4","DSP","EBP","EDA","EDAR","EDARADD","FAM111B","FIG4","GAD1","GJA1","GJB2","GJB6","GNPTAB","GTPBP2","H3-3A","H4C5","HDAC4","HECW2","HEPHL1","HERC1","HNRNPK","HRURF","IRX5","ITGA3","JARID2","JUP","KANK2","KAT5","KAT6A","KDF1","KDM1A","KDM6A","KIFBP","KMT2D","KMT5B","KRT17","KRT25","KRT71","KRT74","LARP7","LIG4","LIPH","LMBRD2","LMNA","LPAR6","LRP1","LSS","LTV1","LZTR1","MAN1B1","MAPKAPK5","MARS1","MBTPS2","MED12","MED12L","MED25","MEGF8","MEIS2","MESD","MTX2","NAA10","NECTIN1","NF1","NFIB","NSD1","NSUN2","NUP188","ODC1","PIGK","PIGL","PLXNA1","POLR3A","PPP1CB","PPP2R3C","PQBP1","PURA","RAF1","RECQL4","RHOBTB2","RIN2","RMRP","RNF113A","RNU12","RNU4ATAC","RPL21","RPS28","SIAH1","SMARCA2","SMS","SNRPE","SON","SOS1","SOS2","SPINK5","SPOP","SPRED2","ST14","STAG2","TBCD","TBX3","TCF4","THUMPD1","TMEM147","TP63","TRPS1","TWIST2","UBE3B","USB1","VAC14","WDR26","WDR35","WLS","WNT10A","WNT10B","YY1","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DECREASED_PROPORTION_OF_CD3_POSITIVE_T_CELLS":{"collection":"C5:HPO","systematicName":"M38640","pmid":"","exactSource":"HP:0045080","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0045080","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_PROPORTION_OF_CD3_POSITIVE_T_CELLS","geneSymbols":["CD247","CD3D","CD3E","DCLRE1C","IL2RG","IL7R","PGM3","PNP","RAG1","RAG2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_BODY_MASS_INDEX":{"collection":"C5:HPO","systematicName":"M38641","pmid":"","exactSource":"HP:0045081","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0045081","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_BODY_MASS_INDEX","geneSymbols":["CEACAM3","CEACAM6","CFTR","CLCA4","CORIN","DCTN4","EDNRA","FLT1","GCLC","GSTM3","HFE","HMOX1","HTT","KCNJ11","KCNN4","MIF","SERPINA1","SLC11A1","SLC16A2","SLC25A13","SLC26A9","SLC2A3","SLC6A14","SLC9A3","STOX1","STX1A","TGFB1","THOC2","THRA"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DECREASED_BODY_MASS_INDEX":{"collection":"C5:HPO","systematicName":"M46386","pmid":"","exactSource":"HP:0045082","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0045082","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_BODY_MASS_INDEX","geneSymbols":["CEACAM3","CEACAM6","CFTR","CLCA4","DCTN4","EDNRA","GCLC","GSTM3","HFE","HMOX1","HTT","KCNN4","MIF","SERPINA1","SLC11A1","SLC16A2","SLC25A13","SLC26A9","SLC2A3","SLC6A14","SLC9A3","STX1A","TGFB1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LIMB_MYOCLONUS":{"collection":"C5:HPO","systematicName":"M38642","pmid":"","exactSource":"HP:0045084","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0045084","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIMB_MYOCLONUS","geneSymbols":["ABCD1","ASAH1","CACNA1H","CDKL5","CPLX1","DRD2","GABBR2","GABRA1","GABRB3","GABRG2","JRK","KCNQ2","KCNQ3","KCTD17","KCTD7","MAPT","MECP2","NOP56","NTNG1","PRDX3","PRNP","PRRT2","SCN2A","SCN8A","SGCE","SLC2A1","SMC1A","TBC1D24","TOR1A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_KNEE_JOINT_HYPERMOBILITY":{"collection":"C5:HPO","systematicName":"M43575","pmid":"","exactSource":"HP:0045086","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0045086","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_KNEE_JOINT_HYPERMOBILITY","geneSymbols":["COMP","FGFR3","LMX1B","MEFV","TNFRSF1A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INCREASED_LIBIDO":{"collection":"C5:HPO","systematicName":"M47331","pmid":"","exactSource":"HP:0046503","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0046503","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_LIBIDO","geneSymbols":["CHD7","DUSP6","FGF17","FGF8","FGFR1","GNRH1","GNRHR","HS6ST1","KISS1","KISS1R","NHLH2","NSMF","PROK2","PROKR2","SPRY4","TAC3","TACR3","WDR11"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DECREASED_LIBIDO":{"collection":"C5:HPO","systematicName":"M41614","pmid":"","exactSource":"HP:0046504","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0046504","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_LIBIDO","geneSymbols":["AIP","CDH23","CDKN1A","CDKN1B","CDKN2B","CDKN2C","FSHB","MEN1","TRANK1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PAIN_IN_HEAD_AND_NECK_REGION":{"collection":"C5:HPO","systematicName":"M38643","pmid":"","exactSource":"HP:0046506","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0046506","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PAIN_IN_HEAD_AND_NECK_REGION","geneSymbols":["AGBL1","AKT1","BAP1","CHST6","COL17A1","COL8A2","CTNS","CYSLTR2","DKK1","GNA11","GNAQ","GRHL2","HMBS","HTRA1","KRT16","KRT17","KRT6A","KRT6B","NF2","NTRK1","OVOL2","PDGFB","PIK3CA","RASA1","SCN9A","SF3B1","SLC39A14","SLC4A11","SMARCB1","SMARCE1","SMO","SUFU","TACSTD2","TCF4","TERT","TGFBI","TONSL","TRAF7","VSX1","ZEB1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CERVICAL_SPINE_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M38644","pmid":"","exactSource":"HP:0046508","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0046508","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CERVICAL_SPINE_MORPHOLOGY","geneSymbols":["ARSL","CHRNA1","CHRND","CHRNG","CHST14","DHX37","DSE","EBP","FLNB","FUCA1","GLE1","GZF1","HSPG2","HTRA1","POGZ","POLR3A","RIPPLY2","SLC26A2","SLC35B2","SOX9","TRPV4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_EARLY_ONSET_OF_SEXUAL_MATURATION":{"collection":"C5:HPO","systematicName":"M38645","pmid":"","exactSource":"HP:0100000","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100000","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EARLY_ONSET_OF_SEXUAL_MATURATION","geneSymbols":["AGPAT2","AIP","ALMS1","ARX","ASXL3","BAZ1B","BCL7B","BSCL2","BUD23","CASK","CAV1","CAVIN1","CDKL5","CDON","CLIP2","CNTNAP2","CPLX1","CREBBP","CTBP1","CYP11B1","CYP17A1","DDX3X","DEAF1","DHCR7","DISP1","DLK1","DLL1","DMXL2","DNAJC30","DYRK1A","EHMT1","EIF4H","EIF5A","ELN","EP300","EXT2","FGF8","FGFRL1","FKBP6","FLI1","FLII","FOS","FOXH1","FREM1","GAS1","GLI2","GLI3","GNAO1","GNAS","GRB10","GRIA1","GRIN1","GRM7","GTF2I","GTF2IRD1","GTF2IRD2","H4C5","H6PD","HERC2","HNRNPR","HRAS","HSD11B1","HSD3B2","HYMAI","IDH1","IDH2","IFNG","INSR","IQSEC2","KANSL1","KCNA1","KCNQ2","KCNT1","KDM6A","KISS1R","KMT2B","KMT2C","KMT2D","KRAS","LETM1","LHCGR","LIMK1","LMNA","LRP5","MAB21L2","MAGEL2","MC2R","MEG3","MEN1","METTL27","MIA3","MKRN3","MLXIPL","MMP14","MMP2","MRAP","MSL3","NCF1","NDN","NEUROD2","NF1","NFIX","NNT","NODAL","NPAP1","NR0B1","NR3C1","NRAS","NSD2","OCA2","PAPSS2","PCNT","PDE11A","PIGA","PIGF","PIGP","PIGQ","PIGT","PLAGL1","PLCB1","PNKP","PPARG","PRKAR1A","PTCH1","PTH1R","PWAR1","PWRN1","RAB23","RAI1","RFC2","RTL1","SCN1A","SCN1B","SCN2A","SHH","SIK1","SIM1","SIX3","SLC12A5","SLC25A22","SLC32A1","SLC35A2","SMAD4","SNORD115-1","SNORD116-1","SNRPN","SOX6","SPEN","SRCAP","STAR","STIL","STK11","STX1A","TANGO2","TBC1D24","TBL2","TDGF1","TFE3","TGIF1","TMEM270","TNRC6B","TONSL","TP63","TRIM8","TSC1","TSC2","TXNRD2","USP7","VPS37D","ZIC2","ZNF526"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NEOPLASM_OF_THE_PERIPHERAL_NERVOUS_SYSTEM":{"collection":"C5:HPO","systematicName":"M38647","pmid":"","exactSource":"HP:0100007","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100007","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_PERIPHERAL_NERVOUS_SYSTEM","geneSymbols":["AKT1","APC","ARMC5","ASCL1","ATRX","BAP1","BDNF","CCM2","CCND1","CDKN1A","CDKN1B","CDKN2B","CDKN2C","COQ6","DAXX","DLST","DNMT3A","EDN3","EPAS1","FH","GCGR","GDNF","GNAS","HRAS","IFNG","KARS1","KCNJ11","KIF1B","KIT","KRIT1","LBX1","LMNA","LRP1","LZTR1","MAFA","MAX","MBD4","MDH2","MEN1","MLH1","MYO1H","NF1","NF2","PDCD10","PDE11A","PDGFB","PHOX2B","PIK3CA","PRKAR1A","RET","RNF43","SDHA","SDHAF2","SDHB","SDHC","SDHD","SLC25A11","SMARCB1","SMARCE1","SMO","SPRED1","SPTBN1","SUFU","TERT","TMEM127","TRAF7","TSC1","TSC2","VHL","YY1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SCHWANNOMA":{"collection":"C5:HPO","systematicName":"M38648","pmid":"","exactSource":"HP:0100008","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100008","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SCHWANNOMA","geneSymbols":["COQ6","HRAS","KARS1","LZTR1","MBD4","NF1","NF2","PDE11A","PRKAR1A","RNF43","SMARCB1","SPRED1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NEOPLASM_OF_THE_EYE":{"collection":"C5:HPO","systematicName":"M38649","pmid":"","exactSource":"HP:0100012","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100012","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_EYE","geneSymbols":["AKT1","BAP1","BRAF","CCND1","CHEK2","CYSLTR2","DDB2","DLST","ERCC2","ERCC3","ERCC4","ERCC5","FH","GNA11","GNAQ","IFNG","KIF1B","KLLN","KRT1","KRT10","MAX","MBD4","MDH2","MSH6","NDP","NF1","NF2","PIK3CA","PTEN","RB1","RET","SDHA","SDHAF2","SDHB","SDHC","SDHD","SEC23B","SF3B1","SLC25A11","SPRED1","STK11","TMEM127","TP53","TSC1","TSC2","USF3","VHL","XPA","XPC"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NEOPLASM_OF_THE_BREAST":{"collection":"C5:HPO","systematicName":"M38650","pmid":"","exactSource":"HP:0100013","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100013","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_BREAST","geneSymbols":["AAGAB","ACD","AKT1","APC","ATM","ATR","AXIN2","BAP1","BARD1","BLM","BMPR1A","BRCA1","BRCA2","BRIP1","CASP10","CASP8","CDH1","CDK4","CDKN2A","CDKN2B","CHEK2","COL14A1","CTNNB1","ERBB2","ESR1","FAS","FASLG","FGFR2","GNAS","HMMR","IDH1","IDH2","KLLN","KRAS","LMNA","MBD4","MC1R","MDM2","MEFV","MGMT","MITF","MLH1","MRE11","MSH2","MSH6","NBN","NF1","NQO2","NTHL1","OPCML","PALB2","PALLD","PDE11A","PHB1","PIK3CA","POLD1","POLE","POT1","PPM1D","PRKAR1A","PRKCD","PRKN","PRLR","PTEN","RABL3","RAD50","RAD51","RAD51C","RAD51D","RAD54L","RASGRP1","RB1CC1","RELA","RNF43","RPS20","SDHB","SDHC","SDHD","SEC23B","SEMA4A","SLC22A18","SLC6A17","SMAD4","STK11","TERF2IP","TERT","TP53","TWIST1","USF3","WRN","XRCC3","ZFTA"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_EPIRETINAL_MEMBRANE":{"collection":"C5:HPO","systematicName":"M43576","pmid":"","exactSource":"HP:0100014","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100014","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EPIRETINAL_MEMBRANE","geneSymbols":["APC","C1QTNF5","CTNNB1","FZD4","HGSNAT","HLA-A","LRP5","NDP","NF2","NLRP3","TRNT1","TSPAN12","ZNF408"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_MESENTERY_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M46387","pmid":"","exactSource":"HP:0100016","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100016","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_MESENTERY_MORPHOLOGY","geneSymbols":["CHST14","CISD2","DSE","TMEM94","WFS1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NUCLEAR_CATARACT":{"collection":"C5:HPO","systematicName":"M38652","pmid":"","exactSource":"HP:0100018","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100018","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NUCLEAR_CATARACT","geneSymbols":["BFSP1","CFAP410","CHMP4B","CRYBA1","CRYBB1","CRYBB2","CRYBB3","CRYGC","FTL","FYCO1","GALK1","GJA1","GJA5","GJA8","HSF4","IMPG2","MIP","MVK","NHS","NR2E3","PRG4","SLC2A1","VIM","WFS1","ZNF408"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CORTICAL_CATARACT":{"collection":"C5:HPO","systematicName":"M38653","pmid":"","exactSource":"HP:0100019","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100019","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CORTICAL_CATARACT","geneSymbols":["BFSP1","COL18A1","CRYGS","KIAA1549","MIP","NF2","OCRL","OPA3","PAK2","PANK4","ZNF408"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CEREBRAL_PALSY":{"collection":"C5:HPO","systematicName":"M38654","pmid":"","exactSource":"HP:0100021","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100021","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CEREBRAL_PALSY","geneSymbols":["ADAR","ADD3","ADGRG1","AIP","ALS2","ANKLE2","AP4E1","AP4M1","AP4S1","APC2","ARSA","ARX","ASNS","ATP13A2","ATP5F1A","ATP6V0A1","ATP8A2","AUH","AUTS2","BCL11B","CA8","CACNA1D","CACNA1E","CAMK2B","CD109","CDC40","CIC","CLIC2","CLN8","CNP","CNPY3","CNTNAP2","COASY","COG2","COL4A2","COLGALT1","CPLX1","CPSF3","CSF1R","CTNNA2","CYB5A","CYB5R3","DCC","DCX","DEGS1","DENND5A","DNAL4","DNASE1L3","DPH5","DTYMK","DYNC1H1","ELOVL4","EXOC2","FBXW11","FUCA1","GABRA2","GLB1","GLYCTK","GNB1","GOT2","GP1BA","GP1BB","GPR101","GRIA4","GRIN1","GSX2","H4C5","HMGCL","HPGD","HSD17B10","IBA57","IDH1","IDH2","IDUA","IFIH1","IREB2","ITGA2","ITGA2B","ITGB3","KANK1","KARS1","KCNC2","KIF2A","KIF5C","LIAS","LSM11","MCCC2","MCOLN1","MECP2","MINPP1","MOCS1","MOCS2","MRPS22","MTFMT","NALCN","NAXD","NDE1","NDUFAF4","NDUFAF5","NRCAM","NSRP1","NTN1","OSTM1","OTUD6B","PCBD1","PCDH12","PDHX","PET100","PHGDH","PI4KA","PLA2G6","PNP","PPFIBP1","PPIL1","PRDM13","PRDM8","PRNP","PROC","PSMC1","RAB18","RAD51","RANBP2","RBM10","RNASEH2A","RNASEH2B","RNASEH2C","RNF125","RNU7-1","SAMHD1","SCN2A","SCN3A","SCN4A","SDHAF1","SEC31A","SEPSECS","SHMT2","SHQ1","SIX6","SLC16A2","SLC19A3","SLC1A4","SLC5A6","SLC6A3","SLCO2A1","SLITRK2","SMARCB1","SOX10","SOX2","SPATA5L1","SPR","SPTAN1","SPTBN1","SRPX2","STXBP1","SYNJ1","SYT1","TANGO2","TBC1D20","TBCE","TMX2","TREX1","TUBA1A","TUBB2B","TUBB3","TUBG1","UNC80","VLDLR","VPS53","WARS2","WDR45B","WDR73","WDR81","YIF1B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RECURRENT_HAND_FLAPPING":{"collection":"C5:HPO","systematicName":"M41616","pmid":"","exactSource":"HP:0100023","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100023","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_HAND_FLAPPING","geneSymbols":["AFF2","ASXL3","BCL11A","CCNK","CDK19","CHD8","CIC","CSNK2A1","CUX2","DHPS","FMR1","GABBR2","GRIK2","HECW2","HERC2","HNRNPH2","KMT5B","MBD5","NAA20","NEXMIF","NOVA2","OCA2","PDZD8","PRKAR1B","SYNGAP1","TRAPPC6B","TRAPPC9","UBE3A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CONSPICUOUSLY_HAPPY_DISPOSITION":{"collection":"C5:HPO","systematicName":"M38655","pmid":"","exactSource":"HP:0100024","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100024","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONSPICUOUSLY_HAPPY_DISPOSITION","geneSymbols":["HNRNPH2","KANSL1","NALCN","SATB2","SIN3A","SLC9A6","UNC80"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ARTERIOVENOUS_MALFORMATION":{"collection":"C5:HPO","systematicName":"M38657","pmid":"","exactSource":"HP:0100026","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100026","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ARTERIOVENOUS_MALFORMATION","geneSymbols":["ACVRL1","ADAMTS3","AGGF1","AKT1","ARHGAP31","ARL6IP6","BRCA1","BRCA2","BRIP1","CAV1","CBS","CCBE1","COL1A1","COL3A1","COL5A1","COL5A2","DLL4","DOCK6","ENG","EOGT","EPHB4","ERCC4","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FAT4","GDF2","GLMN","GNA11","GNAQ","GUSB","IL6","KRAS","MAD2L2","MNX1","NOTCH1","PALB2","PIK3CA","PTEN","RAD51","RAD51C","RASA1","RBPJ","RFWD3","SLX4","SMAD4","TEK","UBE2T","XRCC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RECURRENT_PANCREATITIS":{"collection":"C5:HPO","systematicName":"M38658","pmid":"","exactSource":"HP:0100027","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100027","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_PANCREATITIS","geneSymbols":["CASR","CAV1","CCDC47","CDC73","CFTR","CPA1","CTRC","GCGR","GPIHBP1","MT-CO1","MT-CO2","MT-CO3","MT-ND1","MT-ND4","MT-ND5","MT-ND6","MT-TF","MT-TH","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TW","PRSS1","PRSS2","SPINK1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ECTOPIC_THYROID":{"collection":"C5:HPO","systematicName":"M47332","pmid":"","exactSource":"HP:0100028","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100028","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ECTOPIC_THYROID","geneSymbols":["IL6ST","KAT6B","LIFR","NKX2-5","PAX8"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NEOPLASM_OF_THE_THYROID_GLAND":{"collection":"C5:HPO","systematicName":"M38659","pmid":"","exactSource":"HP:0100031","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100031","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_THYROID_GLAND","geneSymbols":["ABCD1","AKT1","APC","ARID1A","ARID1B","ARID2","ATP7A","BMPR1A","CASP10","CDC73","CDKN1A","CDKN1B","CDKN2A","CDKN2B","CDKN2C","CHEK2","DICER1","DPF2","ECE1","EDN3","EDNRB","EPCAM","ERBB2","ERBB3","FAN1","FAS","FASLG","FLCN","FOXE1","FOXI1","GDNF","GREM1","HABP2","HEPACAM","HRAS","JAG1","KCNJ10","KEAP1","KLLN","KRAS","LMNA","MDM2","MEN1","MINPP1","MLH1","MLH3","MSH2","MSH3","MSH6","NKX2-1","NRAS","NRTN","PDE11A","PIK3CA","PMS1","PMS2","PRKAR1A","PRKCD","PTEN","RASGRP1","RET","RPS20","SDHB","SDHC","SDHD","SEC23B","SEMA3C","SEMA3D","SEMA4A","SLC26A4","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SMO","SOX11","SOX4","SREBF1","SRGAP1","TG","TGFBR2","TP53","USF3","WRN"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_TICS":{"collection":"C5:HPO","systematicName":"M38660","pmid":"","exactSource":"HP:0100033","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100033","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TICS","geneSymbols":["ARID2","BCR","CEP152","COASY","CRKL","EMC10","GATAD2B","GNB1","GRIA1","HDC","KCNN2","KMT5B","MAPK1","PANK2","PDGFB","POGZ","PTCHD1","PUF60","SLITRK1","SLITRK2","SPTBN1","VPS13A","ZBTB20","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MOTOR_TICS":{"collection":"C5:HPO","systematicName":"M38661","pmid":"","exactSource":"HP:0100034","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100034","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MOTOR_TICS","geneSymbols":["CEP152","COASY","GNB1","GRIA1","HDC","KCNN2","PANK2","PDGFB","PTCHD1","SLITRK1","VPS13A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PHONIC_TICS":{"collection":"C5:HPO","systematicName":"M46388","pmid":"","exactSource":"HP:0100035","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100035","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PHONIC_TICS","geneSymbols":["GNB1","HDC","PANK2","SLITRK1","SLITRK2","VPS13A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_THICKENED_CORTEX_OF_BONES":{"collection":"C5:HPO","systematicName":"M47333","pmid":"","exactSource":"HP:0100039","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100039","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THICKENED_CORTEX_OF_BONES","geneSymbols":["ANO5","COL1A1","FAM111A","IL6ST","LIFR","LRP5","MAN2B1","NF1","SETBP1","SOST","TBCE","TGFB1","TRIM37"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_PUBIC_HAIR":{"collection":"C5:HPO","systematicName":"M38662","pmid":"","exactSource":"HP:0100133","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100133","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_PUBIC_HAIR","geneSymbols":["ANOS1","APCDD1","AR","AXL","BMP15","BNC1","CCDC141","CDSN","COL17A1","CYB5A","CYP17A1","DHX37","DMRT3","DUSP6","EPS8L3","ESR1","FEZF1","FGF17","FOXL2","FSHB","FSHR","GATA4","GJB2","GJB6","GNRH1","GNRHR","HLA-DRA","HR","ITGB4","KCTD1","KRT74","LHB","LSS","MAP3K1","MDM2","MRPS22","MSH4","NR0B1","NR5A1","NUP107","ORC6","POLR3H","PPP2R3C","PSMC3IP","RPL21","SEMA3E","SOX9","SPIDR","SPRY4","SRA1","SRY","TP63","VAMP7","WDR11","WT1","WWOX","ZFPM2","ZSWIM7"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_AXILLARY_HAIR":{"collection":"C5:HPO","systematicName":"M38663","pmid":"","exactSource":"HP:0100134","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100134","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_AXILLARY_HAIR","geneSymbols":["ADAMTS3","APCDD1","APOE","AR","AXIN2","AXL","CCBE1","CCDC141","CDSN","COL17A1","CYB5A","CYP17A1","DHX37","DMRT3","DSC3","DUSP6","EPS8L3","FAT4","FEZF1","FGF17","FSHB","GATA4","GJB2","GJB6","GNRH1","GNRHR","HLA-DRA","HR","ITGB4","KCTD1","KRT74","LHB","LIPH","LPAR6","LSS","MAP3K1","NR0B1","NR5A1","ORC6","PPP2R3C","PSMB8","RPL21","SEMA3E","SNRPE","SOX9","SPRY4","SRA1","SRY","TBX3","TP63","VAMP7","WDR11","WT1","WWOX","ZBTB20","ZFPM2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FRAGMENTED_EPIPHYSES":{"collection":"C5:HPO","systematicName":"M43577","pmid":"","exactSource":"HP:0100168","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100168","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FRAGMENTED_EPIPHYSES","geneSymbols":["COL9A1","COL9A2","COL9A3","COMP","KIF22"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SYNOSTOSIS_INVOLVING_BONES_OF_THE_UPPER_LIMBS":{"collection":"C5:HPO","systematicName":"M38664","pmid":"","exactSource":"HP:0100238","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100238","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SYNOSTOSIS_INVOLVING_BONES_OF_THE_UPPER_LIMBS","geneSymbols":["ANAPC1","APC","ATP7A","B3GALT6","B3GAT3","B4GALT7","BAZ1B","BCL7B","BCOR","BHLHA9","BICRA","BMPR1B","BPNT2","BRD4","BUD23","CANT1","CBL","CHST3","CHSY1","CLIP2","COL27A1","COLEC10","COLEC11","CPLX1","CSGALNACT1","CTBP1","CYP26B1","DHODH","DNAJC30","DONSON","DYNC2LI1","EIF4A3","EIF4H","ELN","ESCO2","EVC","EVC2","FBLN1","FGF16","FGF9","FGFR1","FGFR2","FGFR3","FGFRL1","FKBP6","FLNA","FLNB","GDF5","GLI1","GSC","GTF2I","GTF2IRD1","GTF2IRD2","HDAC8","HOXA11","HOXA13","HOXD13","IHH","KAT6B","KRAS","LETM1","LIMK1","LMBR1","LRP4","LZTR1","MACROH2A1","MAF","MAP3K7","MASP1","MECOM","METTL27","MLXIPL","MRAS","MYH3","NCF1","NIPBL","NOG","NONO","NRAS","NSD2","NXN","PAX3","PIEZO2","PITX1","POR","PQBP1","PRKACA","PRKACB","PTDSS1","PTPN11","RAD21","RAF1","RASA2","RBM8A","RECQL4","RFC2","RIT1","ROR2","RPL26","RRAS","RRAS2","SALL4","SETBP1","SF3B4","SHH","SMAD6","SMC1A","SMC3","SMOC1","SOS1","SOS2","SPRED2","STX1A","TBL2","TBX15","TBX22","TBX5","TCF12","TFAP2B","TMEM270","TWIST1","VPS37D","WNT7A","XYLT1","ZIC1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SYNOSTOSIS_OF_JOINTS":{"collection":"C5:HPO","systematicName":"M38665","pmid":"","exactSource":"HP:0100240","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100240","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SYNOSTOSIS_OF_JOINTS","geneSymbols":["ABCC6","ACVR1","AEBP1","AFF4","ANAPC1","ANKRD11","APC","ASH1L","ASXL2","ATP7A","B3GALT6","B3GAT3","B4GALT7","BAZ1B","BCL7B","BCOR","BHLHA9","BICRA","BMPER","BMPR1B","BPNT2","BRD4","BRPF1","BUD23","CANT1","CBL","CDH11","CHD4","CHN1","CHRNA1","CHRND","CHRNG","CHST3","CHSY1","CLIP2","COL27A1","COL2A1","COLEC10","COLEC11","CPLX1","CSGALNACT1","CTBP1","CYP26B1","DCC","DHODH","DKK1","DLL3","DNAJC30","DNAL4","DONSON","DYNC2LI1","EIF4A3","EIF4H","ELN","ENPP1","ESCO2","EVC","EVC2","FANCI","FBLN1","FGD1","FGF16","FGF9","FGFR1","FGFR2","FGFR3","FGFRL1","FKBP6","FKRP","FLNA","FLNB","FN1","FUZ","GDF3","GDF5","GDF6","GLI1","GLI3","GPC3","GPC4","GSC","GTF2I","GTF2IRD1","GTF2IRD2","HDAC8","HES7","HGD","HOXA11","HOXA13","HOXD13","IHH","IL1RN","KANSL1","KAT6B","KRAS","LETM1","LIMK1","LMBR1","LRP4","LZTR1","MACROH2A1","MAF","MAFB","MAP3K20","MAP3K7","MASP1","MECOM","MEOX1","MESP2","METTL27","MKKS","MLXIPL","MRAS","MYH3","MYO18B","NADSYN1","NALCN","NCF1","NIPBL","NOG","NONO","NOTCH3","NRAS","NSD2","NTN1","NXN","OFD1","PAX3","PCNT","PIEZO2","PITX1","POLR1D","POR","PQBP1","PRKACA","PRKACB","PTCH1","PTCH2","PTDSS1","PTH1R","PTPN11","PUF60","RAD21","RAD51","RAF1","RASA2","RBM8A","RECQL4","RFC2","RIPK4","RIT1","RNU12","ROR2","RPL26","RRAS","RRAS2","SALL1","SALL4","SETBP1","SF3B2","SF3B4","SHH","SIX6","SLC26A2","SMAD4","SMAD6","SMC1A","SMC3","SMOC1","SOS1","SOS2","SOX2","SOX5","SPRED2","STX1A","SUFU","TBL2","TBX15","TBX22","TBX4","TBX5","TBX6","TCF12","TFAP2A","TFAP2B","TMCO1","TMEM270","TNNI2","TNNT3","TPM2","TWIST1","VANGL1","VPS37D","WBP11","WNT7A","XYLT1","ZIC1","ZIC3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SARCOMA":{"collection":"C5:HPO","systematicName":"M38666","pmid":"","exactSource":"HP:0100242","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100242","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SARCOMA","geneSymbols":["ABCA5","ADA2","AKT1","ANAPC1","ANGPT2","ANTXR2","APC","ASPSCR1","ATP6V1B2","AURKA","AXIN2","BAP1","BAX","BMPR1A","BMPR1B","BRAF","BRD4","BUB1","BUB1B","BUB3","CASP10","CCND1","CDC73","CDKN1A","CDKN1B","CDKN2A","CDKN2B","CDKN2C","CEP57","CHEK2","COL1A1","COL4A5","COL4A6","CTNNB1","DCC","DHCR24","DICER1","DLC1","ELMO2","EP300","EPHB4","EWSR1","EXT1","EXT2","FAM20A","FAM20C","FAS","FASLG","FGFR3","FH","FLCN","FLNA","FLT4","FOXC2","FOXO1","GATA1","GDF5","GJC2","GNAS","GREM1","HEATR3","HRAS","IDH1","IDH2","IFNG","IL6ST","KCNH1","KCNMA1","KCNN3","KEAP1","KIT","KLLN","KRAS","KRT17","LMNA","LRP1","MAD1L1","MAP2K1","MC1R","MCC","MDM2","MEN1","MLH1","MLH3","MSH2","MSH6","MTAP","MUTYH","NBN","NF1","NF2","NOTCH3","NR4A3","NRAS","NUTM1","PAX3","PAX7","PDE11A","PDGFB","PDGFRA","PDGFRB","PDGFRL","PIEZO1","PIK3CA","PLA2G2A","PLCD1","PRKAR1A","PRKCD","PRLR","PTCH1","PTEN","PTH1R","PTPN11","PTPN12","PTPRJ","RAD54B","RASGRP1","RB1","RECQL4","REST","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS7","RSPRY1","SDHA","SDHB","SDHC","SDHD","SEC23B","SLC22A18","SMARCB1","SMARCE1","SMO","SOS1","SPRED1","SPTBN1","SQSTM1","SRC","SSX2","SUFU","TAF15","TERT","TLR2","TP53","TRAF7","TRIP13","TSC1","TSC2","TSR2","USF3","WRN","WT1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LEIOMYOSARCOMA":{"collection":"C5:HPO","systematicName":"M38667","pmid":"","exactSource":"HP:0100243","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100243","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LEIOMYOSARCOMA","geneSymbols":["AKT1","APC","AURKA","AXIN2","BAX","BRAF","BUB1","BUB1B","CCND1","CHEK2","CTNNB1","DCC","DLC1","EP300","FGFR3","FH","FLCN","MCC","MLH3","NRAS","PDGFRL","PIK3CA","PLA2G2A","PTPN12","PTPRJ","RAD54B","SRC","TLR2","TP53"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FIBROSARCOMA":{"collection":"C5:HPO","systematicName":"M38668","pmid":"","exactSource":"HP:0100244","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100244","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FIBROSARCOMA","geneSymbols":["APC","BMPR1A","COL1A1","CTNNB1","FOXC2","GREM1","MTAP","MUTYH","PDGFB","SPRED1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DESMOID_TUMORS":{"collection":"C5:HPO","systematicName":"M45507","pmid":"","exactSource":"HP:0100245","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100245","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DESMOID_TUMORS","geneSymbols":["APC","BMPR1A","CTNNB1","GREM1","MUTYH","SPRED1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DIAPHYSEAL_DYSPLASIA":{"collection":"C5:HPO","systematicName":"M47334","pmid":"","exactSource":"HP:0100252","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100252","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DIAPHYSEAL_DYSPLASIA","geneSymbols":["NF1","SPRED1","TBXAS1","TMEM165","TMEM53"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_METAPHYSEAL_DYSPLASIA":{"collection":"C5:HPO","systematicName":"M38669","pmid":"","exactSource":"HP:0100255","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100255","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_METAPHYSEAL_DYSPLASIA","geneSymbols":["ACP5","AIFM1","ALG3","CDKN1C","COL10A1","COL2A1","CWC27","DNAJC21","DYM","EFL1","EIF2AK3","EXTL3","FGFR3","GJA1","GPX4","HDAC6","IDH1","LBR","LONP1","LRRK1","MMP13","NKX3-2","PIK3C2A","POLE","POP1","PTH1R","RMRP","RUNX2","SBDS","SFRP4","SRP54","TGFB1","TMEM165","TMEM53","UFSP2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SENILE_PLAQUES":{"collection":"C5:HPO","systematicName":"M38670","pmid":"","exactSource":"HP:0100256","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100256","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SENILE_PLAQUES","geneSymbols":["ABCA7","APOE","CHMP2B","GRN","MAPT","PRNP","PSEN1","PSEN2","TMEM106B","TREM2","VCP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ECTRODACTYLY":{"collection":"C5:HPO","systematicName":"M38671","pmid":"","exactSource":"HP:0100257","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100257","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ECTRODACTYLY","geneSymbols":["AHSG","ARHGAP31","ARSB","BHLHA9","BSCL2","BTRC","CDH3","CDKN1C","CPLX1","CTBP1","CTDP1","CTSD","DHCR7","DLL4","DLX5","DLX6","DOCK6","EGR2","EOGT","EPS15L1","FBXW4","FGFR1","FGFR2","FGFR3","FGFRL1","GDAP1","GLI3","GNPTAB","HINT1","HMGA2","HNRNPA1","HSD17B4","IDS","IGF2","IRF6","ITGB6","JPH1","LETM1","LSS","MAP3K20","MBTPS2","MCM3AP","MED12","MMP2","MORC2","MPZ","NDRG1","NEFL","NELFA","NOTCH1","NSD2","NXN","PIGG","PLAG1","PMP22","PORCN","PRX","RBPJ","ROR2","SBF2","SEM1","SLC52A2","SVBP","TBX5","TCTN3","TP63","UBA2","WLS","WNT10B","WNT7A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PREAXIAL_POLYDACTYLY":{"collection":"C5:HPO","systematicName":"M38672","pmid":"","exactSource":"HP:0100258","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100258","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PREAXIAL_POLYDACTYLY","geneSymbols":["B9D1","B9D2","BHLHA9","C2CD3","CC2D2A","CDC45","CENPF","CEP120","CEP290","CEP41","CHN1","CILK1","CNTNAP2","COLEC10","CPLANE1","CPLX1","CSPP1","CTBP1","CTU2","DACT1","DYNC2H1","DYNC2I1","DYNC2I2","EFTUD2","EXTL3","FAM149B1","FANCD2","FGFR2","FGFRL1","FLNA","GJA1","GLI1","GLI3","HEATR3","HEPACAM","HOXD13","HYLS1","IFT172","IFT43","IFT57","IFT80","INTU","KIAA0586","KIAA0753","KIF7","LETM1","LMBR1","MAFB","MEGF8","MKS1","NEK1","NEK9","NELFA","NSD2","OFD1","PDE6D","PHF8","PIGG","PITX1","PTEN","PUF60","RAB23","RNU4ATAC","RPGRIP1","RPGRIP1L","SALL1","SALL4","SMO","TCTN1","TCTN2","TCTN3","TFAP2A","TMEM107","TMEM216","TMEM231","TMEM237","TMEM67","TOPORS","TXNDC15","WDR35","ZNF699","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_POSTAXIAL_POLYDACTYLY":{"collection":"C5:HPO","systematicName":"M38673","pmid":"","exactSource":"HP:0100259","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100259","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POSTAXIAL_POLYDACTYLY","geneSymbols":["AKT3","ALX3","ARL6","ARMC9","B9D1","B9D2","BBIP1","BBS1","BBS10","BBS12","BBS2","BBS4","BBS5","BBS7","BBS9","BHLHA9","BMP4","BMPR1B","C2CD3","CC2D2A","CCDC28B","CCND2","CD96","CEP120","CEP19","CEP290","CFAP418","CHST11","CIBAR1","CILK1","COG6","CPLANE1","CRB2","CSPP1","CTU2","DDX59","DHCR7","DYNC2H1","DYNC2I1","DYNC2I2","DYNC2LI1","DYNLT2B","EBP","EVC","EVC2","EXTL3","FGFR2","FLNA","GATA6","GDF5","GDF6","GLI1","GLI2","GLI3","GPC3","GPC4","H3-3B","HNRNPK","HOXA13","HOXD13","HYLS1","IFT140","IFT172","IFT27","IFT43","IFT52","IFT57","IFT74","IFT80","IFT81","INPP5E","INTU","IQCE","KIAA0586","KIAA0753","KIAA0825","KIF3B","KIF7","LBR","LMBR1","LZTFL1","MBTPS2","MEGF8","MKKS","MKS1","NCAPG2","NEK1","NKX2-5","NKX2-6","NPHP1","NPHP3","OFD1","OTUD5","PDE6D","PIK3R2","PLAA","PORCN","PPP2R1A","PRKACA","PRKACB","RAB23","RBBP8","RBM10","RPGRIP1","RPGRIP1L","SC5D","SCAPER","SCLT1","SCNM1","SDCCAG8","SETBP1","SETD5","SMO","SMOC1","SUFU","SYNGAP1","TBX1","TBX3","TCTN1","TCTN2","TCTN3","TGFBR1","TGFBR2","TMCO1","TMEM107","TMEM216","TMEM218","TMEM231","TMEM237","TMEM67","TOGARAM1","TRIM32","TTC21B","TTC26","TTC8","TXNDC15","UQCC2","USP9X","WDPCP","WDR19","WDR35","WNT7A","ZNF141"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MESOAXIAL_POLYDACTYLY":{"collection":"C5:HPO","systematicName":"M38674","pmid":"","exactSource":"HP:0100260","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100260","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MESOAXIAL_POLYDACTYLY","geneSymbols":["CHSY1","CPLANE1","FAM149B1","FGFR2","GJA5","GJA8","GLI3","HOXD13","IFT27","KIAA0753","KIF7","LZTFL1","MAP3K20","MKKS","OFD1","PDE6D","TCTN3","TFAP2B","TMEM216","TOPORS","TWIST1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_TENDON_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M38675","pmid":"","exactSource":"HP:0100261","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100261","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_TENDON_MORPHOLOGY","geneSymbols":["AARS1","ABCC8","ABCC9","ABCD1","ABCG5","ABCG8","ABHD12","ABL1","ACADM","ACADS","ACER3","ACTA1","ACTG2","ADAMTS3","ADAMTSL2","ADAR","ADAT3","ADCY6","ADGRG1","ADGRG6","AGRN","AGTPBP1","AHSG","AIFM1","AIMP1","AIMP2","ALAD","ALDH18A1","ALDH3A2","ALG1","ALG12","ALG13","ALG14","ALG2","ALG3","ALG8","ALG9","ALS2","ALX1","ALX3","AMER1","ANKLE2","ANKRD55","ANO5","ANTXR2","AP1S2","AP4B1","AP4E1","AP4S1","APC2","APOA1","APOA2","APOB","APOE","ARID1B","ARL6IP1","ARPC4","ARSB","ARX","ASAH1","ASCC1","ASXL1","ASXL3","ATAD1","ATP11A","ATP2A1","ATP5F1D","ATP6V1A","ATP6V1E1","ATPAF2","ATR","ATRX","AUTS2","B3GALT6","B3GAT3","B4GALT7","B9D2","BAG3","BANF1","BCAS3","BCOR","BCR","BGN","BHLHA9","BICD2","BIN1","BLTP1","BMPR1A","BRAT1","BRF1","BRPF1","C18orf32","C19orf12","CACNA1A","CACNA1C","CACNA1E","CADM3","CAMLG","CANT1","CAPN3","CARS1","CASZ1","CAV1","CAVIN1","CCBE1","CCDC22","CCDC32","CCDC47","CCN2","CCN6","CCR6","CD244","CD247","CDC42","CDC45","CDC6","CDH3","CDK13","CDK5","CDON","CDT1","CEP55","CETP","CFL2","CHAT","CHD7","CHMP1A","CHN1","CHRNA1","CHRNB1","CHRND","CHRNE","CHRNG","CHST14","CHST3","CIITA","CLCF1","CLCN3","CLDN11","CLIC2","CLPB","CNTN1","CNTNAP1","COASY","COG1","COG5","COL11A1","COL11A2","COL12A1","COL13A1","COL17A1","COL1A1","COL1A2","COL25A1","COL2A1","COL3A1","COL6A1","COL6A2","COL6A3","COL7A1","COQ7","COX11","CPT2","CREBBP","CRKL","CRLF1","CRPPA","CSGALNACT1","CTCF","CTDP1","CUL4B","CYP27A1","DAG1","DARS2","DCHS1","DCX","DDHD2","DDR2","DEGS1","DHCR24","DHODH","DHX16","DISP1","DLK1","DLL1","DLL3","DMD","DNA2","DNAJB6","DNM2","DOK7","DPAGT1","DPH1","DPH2","DPM1","DPM2","DSE","DSP","DST","DUSP6","DVL1","DVL3","DYM","DYRK1A","EBP","ECE1","ECEL1","EED","EFNB1","EIF5A","ELN","ELOVL4","EMD","EMG1","EMILIN1","EP300","EPB41L1","EPCAM","EPHX2","ERBB3","ERCC1","ERCC2","ERCC3","ERCC4","ERCC5","ERCC6","ERCC8","ERGIC1","ERLIN1","ERLIN2","ESCO2","EXOC2","EXOC7","EXOC8","EXOSC3","EXOSC5","EXOSC8","EXOSC9","EXTL3","EZH2","F8","FAM111B","FAM20C","FAN1","FANCC","FAT4","FBN1","FBN2","FBXO28","FBXW11","FCSK","FDFT1","FERMT1","FGD1","FGF17","FGF8","FGFR1","FGFR2","FGFR3","FHL1","FIBP","FIG4","FITM2","FKBP10","FKRP","FKTN","FLNA","FLNC","FLRT1","FLVCR1","FLVCR2","FOXH1","FOXP1","FUCA1","FUS","FUT8","FZD2","GABRD","GAD1","GAN","GARS1","GAS1","GBA1","GBA2","GBE1","GCH1","GCK","GDAP1","GDF5","GFM2","GFPT1","GHR","GJA1","GJA5","GJA8","GJB1","GJB2","GJB6","GLDN","GLE1","GLI2","GLI3","GLUL","GMNN","GMPPB","GNB2","GNPAT","GNPTAB","GNRH1","GNRHR","GNS","GOLGA2","GON7","GORAB","GPC3","GPC4","GPKOW","GPT2","GRIA4","GRID2","GRIN1","GSC","GTF2E2","GTF2H5","GUSB","H1-4","H3-3A","H4C9","HACD1","HBA1","HBA2","HES7","HEXB","HGD","HIKESHI","HINT1","HK1","HLA-DRB1","HNRNPA1","HOXD13","HPDL","HRAS","HS2ST1","HS6ST1","HSPB1","HSPD1","HSPG2","HUWE1","IARS2","IBA57","IDH1","IDS","IDUA","IFIH1","IGF2","IGHMBP2","IKBKG","IL10","IL2RA","IL2RB","IL6ST","IMPDH2","INF2","INS","IPO8","IRF5","ITCH","ITGA7","ITGB4","ITGB6","JAG2","JARID2","JUP","KAT6B","KBTBD13","KCNAB2","KCNJ11","KCNJ6","KCNK9","KCNN3","KDM5B","KDM5C","KIAA0319L","KIAA0753","KIDINS220","KIF14","KIF15","KIF1A","KIF21A","KIF22","KIF26A","KIF5A","KIF5C","KISS1","KISS1R","KL","KLC2","KLHL40","KLHL41","KLHL7","KLHL9","KMT2A","KMT2B","KRAS","KRT1","KRT14","KRT16","KRT9","KY","L1CAM","LAGE3","LAMA2","LAMA5","LAMB3","LARGE1","LBR","LDLR","LDLRAP1","LEMD3","LFNG","LGI4","LIAS","LIFR","LMBR1","LMBRD2","LMNA","LMNB1","LMOD3","LMX1B","LONP1","LPIN2","LSM11","LSS","LTBP4","LUZP1","LZTR1","MAF","MAFB","MAGEL2","MAN1B1","MAP3K20","MAP3K7","MAPK1","MARS1","MBTPS2","MECP2","MECR","MED11","MED12","MED13L","MED25","MEG3","MEGF10","MEGF8","MESP2","MET","MFN2","MKS1","MLH1","MLH3","MLXIPL","MMP1","MMP2","MMP23B","MORC2","MPDU1","MPLKIP","MRPS34","MSH2","MSH6","MSL3","MT-TE","MTM1","MTMR14","MTRFR","MTX2","MUSK","MYBPC1","MYH2","MYH3","MYH7","MYH8","MYL1","MYL11","MYL2","MYMK","MYO18B","MYO9A","MYOD1","MYOT","MYPN","NAA10","NACC1","NALCN","NARS1","NCAPG2","NDE1","NDRG1","NDUFAF4","NEB","NEDD4L","NEFL","NEK9","NFATC2","NFKBIL1","NGLY1","NHLH2","NIPBL","NKAP","NKX3-2","NLRP3","NOD2","NODAL","NOG","NPPA","NR4A2","NRCAM","NSD1","NSDHL","NSMF","NSRP1","NSUN2","NT5C2","NUP107","NUP133","NUP188","NUP88","NXN","OCRL","OPA1","ORAI1","ORC1","ORC4","ORC6","OSGEP","OTUD5","OTUD6B","P4HTM","PAX3","PAX7","PCNA","PCSK9","PDGFRB","PDHA1","PDPN","PDX1","PDXK","PERP","PEX1","PEX2","PEX5","PEX6","PEX7","PHACTR1","PHF6","PHGDH","PI4KA","PIEZO2","PIGA","PIGL","PIGN","PIGP","PIGS","PIGY","PIK3C2A","PIK3CA","PIK3R2","PIP5K1C","PITX1","PLA2G6","PLAA","PLCH1","PLEC","PLEKHG5","PLOD1","PLOD2","PLOD3","PLP1","PLXND1","PMM2","PMP22","PMS1","PMS2","PNPT1","POLD1","POLR3A","POLR3GL","POMK","POMT1","POMT2","POP1","POR","PORCN","POU3F4","PPP1R17","PPP1R21","PPP2R5D","PPP3CA","PPT1","PQBP1","PRDM16","PRDM5","PRG4","PRKCG","PRKCZ","PROK2","PROKR2","PRUNE1","PSAT1","PSMB4","PSMB8","PSMB9","PSMG2","PSTPIP1","PTCH1","PTDSS1","PTF1A","PTH1R","PTPN2","PTPN22","PTRH2","PYCR1","PYCR2","PYROXD1","RAB18","RAB23","RAB3GAP1","RAB3GAP2","RAPSN","RARS2","RBM28","REEP1","RERE","REV3L","RFC1","RFT1","RIC1","RIPK4","RIPPLY2","RMRP","RNASEH2A","RNASEH2B","RNASEH2C","RNF113A","RNF13","RNU4ATAC","RNU7-1","ROR2","RPL10","RPS20","RSPO2","RTL1","RTTN","RYR1","RYR3","SALL4","SAMHD1","SATB2","SCARF2","SCN4A","SCN5A","SCYL2","SDHA","SDHAF1","SDHB","SDHD","SEC31A","SELENON","SEMA4A","SEPSECS","SETBP1","SETD2","SGCA","SGCG","SH3PXD2B","SHH","SHPK","SIGMAR1","SIK3","SIL1","SIN3A","SIX3","SKI","SLC10A7","SLC12A6","SLC16A2","SLC18A3","SLC1A2","SLC1A4","SLC22A4","SLC25A1","SLC25A19","SLC25A4","SLC25A46","SLC26A2","SLC29A3","SLC2A10","SLC35A2","SLC35A3","SLC39A13","SLC39A14","SLC39A8","SLC5A7","SLC6A9","SLC9A6","SLURP1","SMAD3","SMAD4","SMARCA2","SMARCAD1","SMC1A","SMG9","SMOC1","SMPD4","SMS","SNAP25","SNRPB","SNX14","SON","SOX10","SOX9","SPART","SPEG","SPEN","SPG11","SPRTN","SPRY4","SPTBN4","SPTLC1","SRD5A3","SRPX2","STAC3","STAG2","STAT3","STAT4","STIL","STIM1","SUCLG1","SUZ12","SVIL","SYNE1","SYNE2","SYT1","SYT2","TAC3","TACR3","TAPT1","TARS1","TBC1D20","TBC1D2B","TBCD","TBR1","TBX15","TBX2","TBX3","TBX4","TCTN3","TDGF1","TDO2","TELO2","TFAP2A","TFG","TGDS","TGFB3","TGFBR1","TGFBR2","TGIF1","TGM1","THOC6","TLK2","TMEM107","TMEM218","TMEM222","TMEM43","TMEM70","TNNC2","TNNI2","TNNT1","TNNT3","TNPO3","TOR1A","TOR1AIP1","TP53RK","TP63","TPM2","TPM3","TPRKB","TRAK1","TREX1","TRIM2","TRIP13","TRIP4","TRPS1","TRPV3","TRPV4","TSEN54","TTN","TTPA","TTR","TUBA1A","TUBB3","TWIST2","UBA1","UBE4B","UCHL1","UFC1","UNC80","UPF3B","UROS","USP7","VAMP1","VARS1","VIPAS39","VMA21","VPS11","VPS33A","VPS33B","VPS53","VRK1","VWA1","WDR11","WDR26","WDR4","WDR45B","WDR73","WIPI2","WNT5A","WNT7A","XYLT1","YRDC","YY1","ZBTB20","ZBTB42","ZC4H2","ZDHHC9","ZEB2","ZIC2","ZMPSTE24","ZNF335","ZNF407","ZNF469","ZNHIT3","ZPR1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SYNOSTOSIS_INVOLVING_DIGITS":{"collection":"C5:HPO","systematicName":"M38676","pmid":"","exactSource":"HP:0100262","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100262","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SYNOSTOSIS_INVOLVING_DIGITS","geneSymbols":["ANAPC1","BHLHA9","BMPR1B","CHSY1","GDF5","IHH","MAP3K20","NOG","NONO","PCNT","PQBP1","PTDSS1","RECQL4","ROR2","TFAP2B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DISTAL_SYMPHALANGISM":{"collection":"C5:HPO","systematicName":"M38677","pmid":"","exactSource":"HP:0100263","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100263","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DISTAL_SYMPHALANGISM","geneSymbols":["BMPR1B","GDF5","IHH","NOG","PCNT","TFAP2B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PROXIMAL_SYMPHALANGISM":{"collection":"C5:HPO","systematicName":"M38678","pmid":"","exactSource":"HP:0100264","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100264","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROXIMAL_SYMPHALANGISM","geneSymbols":["BHLHA9","CHSY1","GDF5","NOG","NONO","PQBP1","PTDSS1","ROR2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SYNOSTOSIS_OF_METACARPALS_METATARSALS":{"collection":"C5:HPO","systematicName":"M38679","pmid":"","exactSource":"HP:0100265","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100265","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SYNOSTOSIS_OF_METACARPALS_METATARSALS","geneSymbols":["BHLHA9","EIF4A3","FBLN1","FGF16","FGF9","FGFR3","GDF5","HOXD13","LRP4","MAP3K20","NOG","NONO","POR","PQBP1","SALL1","SLC26A2","SMOC1","TCF12","TWIST1","ZIC1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SYNOSTOSIS_OF_CARPALS_TARSALS":{"collection":"C5:HPO","systematicName":"M38680","pmid":"","exactSource":"HP:0100266","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100266","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SYNOSTOSIS_OF_CARPALS_TARSALS","geneSymbols":["APC","ATP7A","B3GALT6","BHLHA9","BMPR1B","BPNT2","CHSY1","COL27A1","DYNC2LI1","ESCO2","EVC","EVC2","FBLN1","FGFR1","FGFR2","FGFR3","FLNA","FLNB","GDF5","GDF6","GLI1","GLI3","HOXA13","HOXD13","LMBR1","LRP4","MACROH2A1","MAP3K7","MKKS","MYH3","NALCN","NOG","NXN","OFD1","PAX3","PITX1","POR","PRKACA","PRKACB","RBM8A","RECQL4","RNU12","ROR2","SALL4","SHH","SMOC1","TBX4","TNNI2","TNNT3","TPM2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LIP_PIT":{"collection":"C5:HPO","systematicName":"M38681","pmid":"","exactSource":"HP:0100267","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100267","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIP_PIT","geneSymbols":["EYA1","GRHL3","IRF6","KDM6A","KMT2D","MSX1","NECTIN1","OFD1","RIPK4","SIX1","SMO","TFAP2A","TP63"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NEOPLASM_OF_THE_COLON":{"collection":"C5:HPO","systematicName":"M38682","pmid":"","exactSource":"HP:0100273","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100273","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_COLON","geneSymbols":["AAGAB","ADA2","APC","AXIN2","BLM","BMPR1A","BRCA1","BRCA2","BUB1","BUB1B","BUB3","C1S","CDKN2A","CEP57","CHEK2","COL14A1","ENG","EPCAM","FAN1","FLCN","FOXE1","GATA1","GREM1","HABP2","HEATR3","KIT","KRAS","MAD1L1","MBD4","MDM2","MINPP1","MLH1","MLH3","MSH2","MSH3","MSH6","MUTYH","NTHL1","PALB2","PALLD","PDGFRA","PIK3CA","PMS1","PMS2","POLD1","POLE","PTEN","RABL3","RNF43","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS7","SDHA","SDHB","SDHC","SEMA4A","SH3KBP1","SMAD4","SMAD7","STK11","TGFBR2","TP53","TRIP13","TSR2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DIFFUSE_CEREBELLAR_ATROPHY":{"collection":"C5:HPO","systematicName":"M38683","pmid":"","exactSource":"HP:0100275","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100275","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DIFFUSE_CEREBELLAR_ATROPHY","geneSymbols":["AARS1","BTD","CAMLG","CARS1","CARS2","DAB1","EMC1","ERCC2","ERCC3","FMR1","GTF2E2","GTF2H5","ITPR1","KIF1A","MPLKIP","PEX10","PNPT1","RNF113A","TARS1","TBC1D24","TXN2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SKIN_PIT":{"collection":"C5:HPO","systematicName":"M38684","pmid":"","exactSource":"HP:0100276","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100276","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SKIN_PIT","geneSymbols":["ANK1","ATP2A2","AUTS2","B3GLCT","CIB1","CITED2","CPLX1","CTBP1","DICER1","EDN1","EDNRA","EIF2AK3","EYA1","FGFR2","FGFRL1","FLNA","FLT4","GATA4","GATA5","GATA6","GDF1","GJA5","GNAI3","GPC3","GPC4","GRHL3","GSC","H4C9","HK1","HNRNPK","IRF6","JAG1","KAT6A","KCNJ2","KDM6A","KDR","KMT2D","KRT5","LETM1","LRP1","MED12","MID1","MITF","MSX1","NECTIN1","NKX2-5","NKX2-6","NPHP3","NSD2","OFD1","PAX1","PLCB4","POFUT1","POGLUT1","POLR1D","PPP1CB","PSENEN","PTCH1","PTCH2","RAB23","RIPK4","SALL1","SIX1","SMO","SPECC1L","STAG2","SUFU","SYK","TBX1","TFAP2A","TP63","TRPM3","UBE2A","WBP11","XYLT2","ZFPM2","ZNF462"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PERIAURICULAR_SKIN_PITS":{"collection":"C5:HPO","systematicName":"M38685","pmid":"","exactSource":"HP:0100277","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100277","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERIAURICULAR_SKIN_PITS","geneSymbols":["ANK1","AUTS2","B3GLCT","CITED2","CPLX1","CTBP1","DICER1","EDN1","EDNRA","EIF2AK3","EYA1","FGFR2","FGFRL1","FLNA","FLT4","GATA4","GATA5","GATA6","GDF1","GJA5","GNAI3","GPC3","GPC4","GSC","H4C9","HK1","HNRNPK","JAG1","KAT6A","KCNJ2","KDM6A","KDR","KMT2D","LETM1","LRP1","MED12","MID1","MITF","NKX2-5","NKX2-6","NPHP3","NSD2","PAX1","PLCB4","POLR1D","PPP1CB","RAB23","SALL1","SIX1","SPECC1L","STAG2","SYK","TBX1","TFAP2A","TRPM3","UBE2A","WBP11","XYLT2","ZFPM2","ZNF462"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ULCERATIVE_COLITIS":{"collection":"C5:HPO","systematicName":"M38686","pmid":"","exactSource":"HP:0100279","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100279","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ULCERATIVE_COLITIS","geneSymbols":["BACH2","CARD11","CYBC1","GPR35","IL37","IL6","INAVA","MAP3K7","MASP2","MST1","NOD2","PLCG2","SEMA4D","SLC37A4","TCF4","WAS"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CROHN_S_DISEASE":{"collection":"C5:HPO","systematicName":"M41617","pmid":"","exactSource":"HP:0100280","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100280","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CROHN_S_DISEASE","geneSymbols":["BACH2","CARD10","CTLA4","CYBC1","FNIP1","GUCY2C","IL10RA","IL21","IL6","INAVA","MEFV","NOD2","PI4KA","PSTPIP1","SYK"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_EMG_MYOTONIC_DISCHARGES":{"collection":"C5:HPO","systematicName":"M46389","pmid":"","exactSource":"HP:0100284","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100284","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EMG_MYOTONIC_DISCHARGES","geneSymbols":["ATP2A1","DNM2","GNE","HSPG2","LRP12","MTMR14","SCN4A","SGCG"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_EMG_IMPAIRED_NEUROMUSCULAR_TRANSMISSION":{"collection":"C5:HPO","systematicName":"M38688","pmid":"","exactSource":"HP:0100285","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100285","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EMG_IMPAIRED_NEUROMUSCULAR_TRANSMISSION","geneSymbols":["AGRN","AK9","ALG14","ALG2","BIN1","CACNA1D","CHAT","CHRNA1","CHRNB1","CHRND","CHRNE","COL13A1","COLQ","DOK7","DPAGT1","GFPT1","GMPPB","LAMB2","LRP4","MUSK","MYL1","MYO9A","NOTCH2NLC","OPA1","RAPSN","RYR1","SCN4A","SLC18A3","SLC25A1","SLC5A7","SNAP25","SPEG","SYT2","TTN","VAMP1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_EMG_SLOW_MOTOR_CONDUCTION":{"collection":"C5:HPO","systematicName":"M43579","pmid":"","exactSource":"HP:0100287","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100287","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EMG_SLOW_MOTOR_CONDUCTION","geneSymbols":["ATL1","ATL3","DMXL2","SPTLC1","SPTLC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MUSCLE_FIBER_ATROPHY":{"collection":"C5:HPO","systematicName":"M38689","pmid":"","exactSource":"HP:0100295","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100295","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MUSCLE_FIBER_ATROPHY","geneSymbols":["ACTA1","ACTN2","ADGRG6","AGRN","ALDOA","ALG14","ALS2","ANO5","CASQ1","CHAT","CHRNA1","CHRNE","CNBP","COL13A1","COLQ","CPT2","EMD","FHL1","FUS","GFPT1","GOLGA2","HACD1","HEXB","HNRNPA2B1","HNRNPK","IFIH1","ITGA7","LAMA2","LAMB2","LMNA","LPIN1","MAP3K20","MT-CO1","MT-CO3","MYH7","MYL2","MYO9A","OBSCN","ORAI1","PLOD1","PNPT1","POLG","RYR1","SARS2","SELENON","SIGMAR1","SLC18A3","SLC25A1","SLC5A7","SNAP25","SPG11","SPTBN4","SPTLC1","STAC3","STIM1","SYNE1","SYNE2","SYT2","TK2","TMEM43","TPM2","TPM3","TRAPPC11","TRIP4","TTN","VAMP1","VPS13A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INCREASED_ENDOMYSIAL_CONNECTIVE_TISSUE":{"collection":"C5:HPO","systematicName":"M38690","pmid":"","exactSource":"HP:0100297","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100297","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_ENDOMYSIAL_CONNECTIVE_TISSUE","geneSymbols":["ACTA1","ANO5","ANXA11","CACNA1S","CHKB","COL12A1","COL6A1","COL6A2","COL6A3","GIPC1","HNRNPA1","LAMA2","LARGE1","MAP3K20","MEGF10","MLIP","MYL1","MYOT","NOTCH2NLC","POMGNT1","SELENON","SGCA","SGCG","SLC12A6","SYNE1","TNPO3","TOR1AIP1","TRIP4","TTN"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MUSCLE_FIBER_INCLUSION_BODIES":{"collection":"C5:HPO","systematicName":"M38691","pmid":"","exactSource":"HP:0100299","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100299","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MUSCLE_FIBER_INCLUSION_BODIES","geneSymbols":["ACTA1","ALG14","ALG2","CASQ1","CFL2","COX11","CRYAB","DPAGT1","FHL1","FLNC","GFPT1","GMPPB","GNE","GYG1","HNRNPA1","KBTBD13","KLHL40","KLHL41","KY","LMOD3","MB","MYH2","MYH7","MYO18B","MYOT","MYPN","NDUFB3","NEB","NEFL","ORAI1","PYROXD1","RYR1","RYR3","SMPX","STIM1","TNNT1","TPM2","TPM3","UNC45B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MUSCLE_FIBER_TUBULAR_INCLUSIONS":{"collection":"C5:HPO","systematicName":"M38692","pmid":"","exactSource":"HP:0100301","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100301","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MUSCLE_FIBER_TUBULAR_INCLUSIONS","geneSymbols":["ALG14","ALG2","CASQ1","DPAGT1","GFPT1","GMPPB","ORAI1","STIM1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MUSCLE_FIBER_CYTOPLASMATIC_INCLUSION_BODIES":{"collection":"C5:HPO","systematicName":"M47335","pmid":"","exactSource":"HP:0100303","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100303","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MUSCLE_FIBER_CYTOPLASMATIC_INCLUSION_BODIES","geneSymbols":["ACTA1","ALG14","ALG2","CASQ1","CFL2","COX11","DPAGT1","FHL1","FLNC","GFPT1","GMPPB","KBTBD13","KLHL40","KLHL41","KY","LMOD3","MYH7","MYO18B","MYOT","MYPN","NDUFB3","NEB","NEFL","ORAI1","PYROXD1","RYR1","RYR3","SMPX","STIM1","TNNT1","TPM2","TPM3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CEREBELLAR_HEMISPHERE_HYPOPLASIA":{"collection":"C5:HPO","systematicName":"M46390","pmid":"","exactSource":"HP:0100307","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100307","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CEREBELLAR_HEMISPHERE_HYPOPLASIA","geneSymbols":["B4GAT1","LAMB1","MACF1","PRDM13","PTRH2","SON","TSEN34","ZNF335"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CEREBRAL_CORTICAL_HEMIATROPHY":{"collection":"C5:HPO","systematicName":"M38693","pmid":"","exactSource":"HP:0100308","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100308","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CEREBRAL_CORTICAL_HEMIATROPHY","geneSymbols":["ACTB","ACTG1","EHMT1","MBTPS2","MYO5A","TCTN3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SUBDURAL_HEMORRHAGE":{"collection":"C5:HPO","systematicName":"M41618","pmid":"","exactSource":"HP:0100309","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100309","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUBDURAL_HEMORRHAGE","geneSymbols":["ACTA1","BICD2","DNM2","ERCC6","ERCC8","F8","FGA","FGB","FGG","GCDH","ITGA2B","MMACHC","RBM10","STT3A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_EPIDURAL_HEMORRHAGE":{"collection":"C5:HPO","systematicName":"M46391","pmid":"","exactSource":"HP:0100310","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100310","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EPIDURAL_HEMORRHAGE","geneSymbols":["F8","FGA","FGB","FGG","IPO8","SERPINE1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CEREBRAL_INCLUSION_BODIES":{"collection":"C5:HPO","systematicName":"M38694","pmid":"","exactSource":"HP:0100314","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100314","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CEREBRAL_INCLUSION_BODIES","geneSymbols":["ABCA7","ADH1C","APOE","APP","ATXN2","ATXN8OS","C19orf12","CHMP2B","CYLD","DNAJC13","EIF4G1","EPM2A","FBXO7","GBA1","GFAP","GIGYF2","GLUD2","GRN","HNRNPA1","HNRNPA2B1","ITM2B","LRRK2","MAPT","MPO","MT-TT","NHLRC1","NOS3","NPC1","NPC2","NR4A2","PLA2G6","PLAU","POLG","PRDM8","PRKN","PRNP","PSEN1","PSEN2","RAB39B","SNCA","SNCAIP","SNCB","SNORD118","SORL1","TBP","TIA1","TMEM106B","TOMM40","TREM2","VCP","VPS13C","VPS35"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LEWY_BODIES":{"collection":"C5:HPO","systematicName":"M38695","pmid":"","exactSource":"HP:0100315","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100315","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LEWY_BODIES","geneSymbols":["ADH1C","ATXN2","ATXN8OS","C19orf12","CHMP2B","DNAJC13","EIF4G1","FBXO7","GBA1","GIGYF2","GLUD2","GRN","LRRK2","MAPT","MT-TT","NR4A2","PLA2G6","POLG","PRKN","PSEN1","RAB39B","SNCA","SNCAIP","SNCB","TBP","TIA1","TMEM106B","TREM2","VCP","VPS13C","VPS35"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_DENTATE_NUCLEUS_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M38696","pmid":"","exactSource":"HP:0100321","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100321","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_DENTATE_NUCLEUS_MORPHOLOGY","geneSymbols":["ATN1","CLCN3","CP","CYP27A1","DPM1","ERCC6","ERCC8","FTL","GFAP","PDGFB","PDGFRB","SLC20A2","SNORD118","WDR81"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_JUVENILE_ASEPTIC_NECROSIS":{"collection":"C5:HPO","systematicName":"M38697","pmid":"","exactSource":"HP:0100323","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100323","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_JUVENILE_ASEPTIC_NECROSIS","geneSymbols":["ACAN","ACTB","ACTG1","ADAMTS2","ADAMTSL2","ATP7A","COL1A1","COL1A2","COL2A1","COL9A2","COMP","CREBBP","DVL1","DVL3","DYRK1A","EP300","EXT1","FGFR1","FN1","FZD2","INPP5K","KRAS","LMX1B","MATN3","MMP13","NEK9","ORC1","PHF6","RAB3GAP2","RAD21","SIL1","SKIC3","SLC2A10","SMAD3","SRCAP","TINF2","TONSL","TREX1","TRPS1","TRPV4","UFSP2","UNC45A","WNT5A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SCLERODERMA":{"collection":"C5:HPO","systematicName":"M38698","pmid":"","exactSource":"HP:0100324","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100324","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SCLERODERMA","geneSymbols":["CLCNKB","CRYAB","IGHG2","IGKC","LBR","LEMD3","LMNA","PAH","SLC12A3","SLC29A3","UROD","UROS","WRN"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_IMMUNOLOGIC_HYPERSENSITIVITY":{"collection":"C5:HPO","systematicName":"M38699","pmid":"","exactSource":"HP:0100326","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100326","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMMUNOLOGIC_HYPERSENSITIVITY","geneSymbols":["ABCC9","ADA","AFF4","AGR2","ALG9","ALMS1","ALOX5","ARL6","ARSL","ARVCF","ASXL1","BBS1","BCL11B","BICRA","C4A","C4B","CAMK2B","CARD10","CARD11","CARMIL2","CASP8","CBL","CCDC28B","CCL11","CCR1","CDC42BPB","CDH3","CDKN1C","CDON","CDSN","CEACAM3","CEACAM6","CFTR","CHD1","CLCA4","COMT","COX4I2","CPN1","CREBBP","CSTA","CTLA4","DCTN4","DDX41","DISP1","DLL1","DNASE1L3","DOCK8","DPP9","DSG1","EDNRA","ELN","ELOVL4","EP300","ERAP1","ERCC2","FAS","FCGR2A","FGF8","FGFR1","FLG","FOCAD","FOXH1","FOXP1","FOXP2","FOXP3","GAS1","GCLC","GGT1","GLI2","GNB1","GNB2","GP1BA","GP1BB","GP9","GPR35","GRHL2","GSTM3","HFE","HIRA","HLA-B","HLA-DPB1","HLA-DQA1","HLA-DQB1","HLA-G","HMGA2","HMOX1","HNMT","IDS","IFNGR1","IFT172","IGF2","IGHG2","IGKC","IL10","IL12A","IL12A-AS1","IL12RB1","IL13","IL21R","IL23R","IL4R","IL6ST","IPO8","IRF5","IVNS1ABP","JAK1","JMJD1C","KCNN4","KIT","KLRC4","KRT74","LIFR","LIG4","LMX1B","LRBA","MED12","MEFV","MIA3","MIF","MLXIPL","MMEL1","MS4A2","MST1","MTOR","MUC7","NEK9","NFKB2","NKX2-1","NOD2","NODAL","NSUN2","ODAD3","ODC1","PEPD","PEX5","PGM3","PLA2G7","PLAG1","PLCG2","POU2AF1","PSTPIP1","PTCH1","PTGER2","RBM8A","RELB","RFX7","RIC1","RREB1","RUNX1","SATB2","SCGB3A2","SCN4A","SDHD","SEC24C","SEMA4D","SERPINA1","SHH","SIK3","SIX3","SLC11A1","SLC26A9","SLC27A4","SLC6A14","SLC9A3","SOCS1","SOX6","SPIB","SPINK5","SPTBN1","SRCAP","SRSF2","STAT3","STAT4","STAT5B","STX1A","STXBP1","SUFU","TALDO1","TBC1D7","TBCK","TBX1","TBX21","TCF4","TDGF1","TET2","TGFB1","TGIF1","TGM5","TLR4","TNF","TNFSF15","TNPO3","TRAIP","TTC26","UBAC2","UFD1","UNC45A","USP7","VPS51","WAC","WDR11","ZIC2","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_UNILATERAL_CLEFT_LIP":{"collection":"C5:HPO","systematicName":"M38700","pmid":"","exactSource":"HP:0100333","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100333","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UNILATERAL_CLEFT_LIP","geneSymbols":["GDF11","HYLS1","KAT5","KIF7","MED12","MID1","PTCH1","SMAD4","SUMO1","TAPT1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_UNILATERAL_CLEFT_PALATE":{"collection":"C5:HPO","systematicName":"M38701","pmid":"","exactSource":"HP:0100334","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100334","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UNILATERAL_CLEFT_PALATE","geneSymbols":["ARHGAP29","ARHGEF38","ASXL1","BMP4","CDH1","CDH11","COBLL1","DLG1","DLX4","GDF11","IRF6","KAT5","MED12","MSX1","NECTIN1","PDGFRA","PTCH1","RIC1","SUMO1","TP63"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NON_MIDLINE_CLEFT_LIP":{"collection":"C5:HPO","systematicName":"M38702","pmid":"","exactSource":"HP:0100335","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100335","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NON_MIDLINE_CLEFT_LIP","geneSymbols":["B3GLCT","CDH1","CHUK","CILK1","CTNND1","DDX59","DHODH","DLX4","FGF20","FGFR1","FZD2","GDF11","GFRA1","GJA1","GLI2","GREB1L","HOXD13","HYLS1","IRF6","ITGA8","KAT5","KIF7","MED12","MID1","MSX1","NBN","NECTIN1","PIGN","PTCH1","RAB5IF","RET","RSPO2","SF3B4","SIX3","SMAD4","SMPD4","SPOP","SUMO1","TAPT1","TFAP2A","TP63","WNT9B","YAP1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BILATERAL_CLEFT_LIP":{"collection":"C5:HPO","systematicName":"M38703","pmid":"","exactSource":"HP:0100336","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100336","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BILATERAL_CLEFT_LIP","geneSymbols":["B3GLCT","CDH1","CHUK","CILK1","CTNND1","DLX4","FZD2","GLI2","IRF6","MED12","MSX1","NECTIN1","PTCH1","RAB5IF","RSPO2","SIX3","SMPD4","SPOP","TP63","YAP1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NON_MIDLINE_CLEFT_PALATE":{"collection":"C5:HPO","systematicName":"M38704","pmid":"","exactSource":"HP:0100338","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100338","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NON_MIDLINE_CLEFT_PALATE","geneSymbols":["ARHGAP29","ARHGEF38","ASXL1","BMP4","CDH1","CDH11","CHUK","COBLL1","CTNND1","DLG1","DLX4","GDF11","GLI2","IRF6","KAT5","MED12","MSX1","NECTIN1","PDGFRA","PTCH1","RIC1","RPL26","SIX3","SLC26A2","SPOP","SUMO1","TP63","YAP1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_UPPER_LIMB_JOINT_CONTRACTURE":{"collection":"C5:HPO","systematicName":"M38705","pmid":"","exactSource":"HP:0100360","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100360","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UPPER_LIMB_JOINT_CONTRACTURE","geneSymbols":["ACTA1","ACTG2","ADAMTS3","ADAMTSL2","ADAT3","ADGRG6","ALDH18A1","ALG3","ALS2","ALX1","ALX3","AMER1","ANO5","ANTXR2","APC2","ARID1B","ARPC4","ASXL1","ASXL3","ATR","AUTS2","B3GALT6","B3GAT3","BCOR","BCR","CADM3","CANT1","CAPN3","CASZ1","CAV1","CCBE1","CCDC22","CCN2","CCN6","CCR6","CDC45","CDC6","CDH3","CDT1","CHRNG","CHST3","CLCF1","CNTN1","COG5","COL11A1","COL11A2","COL12A1","COL1A1","COL25A1","COL2A1","COL6A1","COL6A2","COL6A3","COX11","CPT2","CRKL","CRLF1","CSGALNACT1","CTCF","CTDP1","CUL4B","DDR2","DHCR24","DHODH","DHX16","DLK1","DLL3","DMD","DOK7","DVL1","DVL3","DYRK1A","ECE1","ECEL1","EED","EFNB1","EMD","EMG1","ERCC1","ERCC2","ERCC5","ERCC6","ERGIC1","ERLIN2","ESCO2","EXTL3","EZH2","FAT4","FBN1","FBN2","FBXO28","FBXW11","FDFT1","FERMT1","FGD1","FGFR1","FGFR3","FHL1","FKBP10","FKRP","FKTN","FLNA","FLVCR1","FUS","FZD2","GABRD","GDAP1","GDF5","GJA1","GJB2","GLDN","GLI3","GMNN","GNB2","GNS","GON7","GPC3","GPC4","GPKOW","H4C9","HACD1","HES7","HINT1","HK1","HLA-DRB1","HNRNPA1","HOXD13","HS2ST1","HSPB1","HSPG2","IDS","IDUA","IGF2","IGHMBP2","IKBKG","IL6ST","INF2","IPO8","IRF5","ITGA7","JAG2","JARID2","KAT6B","KCNAB2","KCNK9","KDM5B","KDM5C","KIAA0319L","KIF21A","KIF22","KIF5A","KMT2A","KMT2B","KRT1","KRT14","KRT16","KRT9","KY","L1CAM","LAGE3","LAMA2","LAMB3","LARGE1","LFNG","LGI4","LIFR","LMBR1","LMNA","LMX1B","LUZP1","MAFB","MAP3K20","MAP3K7","MAPK1","MBTPS2","MECP2","MED12","MED25","MEG3","MEGF10","MESP2","MKS1","MMP2","MMP23B","MORC2","MUSK","MYBPC1","MYH3","MYL1","MYL11","MYL2","MYOD1","NAA10","NALCN","NDRG1","NEDD4L","NEFL","NIPBL","NLRP3","NOD2","NOG","NSD1","NUP107","NUP133","NUP88","NXN","OCRL","ORC1","ORC4","ORC6","OSGEP","P4HTM","PAX3","PDGFRB","PDPN","PDXK","PEX1","PEX5","PEX6","PHGDH","PI4KA","PIEZO2","PIGA","PIGL","PIGY","PIK3C2A","PITX1","PLEKHG5","PLOD1","PLOD2","PLOD3","PMP22","POLR3A","POLR3GL","POR","PORCN","PQBP1","PRDM16","PRG4","PRKCZ","PSMB8","PSTPIP1","PTDSS1","PTRH2","PYCR1","PYROXD1","RAB23","RAB3GAP1","RAPSN","RARS2","RERE","RIPPLY2","RMRP","RNU4ATAC","ROR2","RPL10","RSPO2","RTL1","RTTN","RYR3","SCARF2","SCN4A","SCYL2","SELENON","SETD2","SH3PXD2B","SHH","SIGMAR1","SIK3","SIN3A","SKI","SLC18A3","SLC25A46","SLC26A2","SLC29A3","SLC35A2","SLC35A3","SLC39A13","SLC39A8","SLC6A9","SMAD3","SMARCAD1","SMC1A","SMG9","SMOC1","SNRPB","SOX9","SPEN","SPG11","SPRTN","SPTLC1","SRD5A3","SUZ12","SVIL","SYNE1","SYNE2","SYT2","TBC1D2B","TBR1","TBX15","TBX2","TBX3","TCTN3","TDO2","TFAP2A","TGDS","TGFB3","TGFBR1","TGFBR2","TLK2","TMEM218","TMEM222","TMEM43","TMEM70","TNNI2","TNNT1","TNNT3","TOR1A","TOR1AIP1","TP53RK","TP63","TPM2","TPM3","TPRKB","TRPS1","TRPV4","TUBA1A","TUBB3","TWIST2","UBA1","UBE4B","UNC80","UPF3B","UROS","WDR4","WDR73","WNT5A","WNT7A","XYLT1","YRDC","ZDHHC9","ZMPSTE24","ZNF407"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_LOWER_LIMB_JOINT":{"collection":"C5:HPO","systematicName":"M38707","pmid":"","exactSource":"HP:0100491","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100491","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_LOWER_LIMB_JOINT","geneSymbols":["AARS1","ABCC6","ABCC9","ABCD1","ACAN","ACTA1","ADAMTS2","ADAMTSL2","ADGRG1","ADGRV1","ADNP","AEBP1","AFF3","AFF4","AGRN","AIFM1","AKT1","ALAD","ALDH18A1","ALG14","ALG2","ALG9","ANAPC1","ANGPT2","ANKLE2","ANKRD55","ANO10","ANO5","AP3B1","AP4B1","AP4E1","AP4M1","AP4S1","APC","APC2","ARF1","ARFGEF2","ARID1B","ARL6IP1","ARNT2","ARSB","ARSK","ARVCF","ASAH1","ATAD1","ATL1","ATP5F1D","ATP6AP2","ATP6V0A2","ATP6V1A","ATP6V1E1","ATP7A","ATR","ATRX","B3GALT6","B3GAT3","B4GALT7","BAG3","BAZ1B","BCL7B","BCOR","BGN","BHLHA9","BICD2","BICRA","BIN1","BMP1","BMPR1B","BPNT2","BPTF","BRAF","BRCA1","BRCA2","BRD4","BRF1","BRIP1","BUD23","C12orf57","C18orf32","C19orf12","CAMK2A","CANT1","CAPN1","CAPN3","CARS1","CBFB","CBS","CCDC47","CCDC8","CCDC88C","CCN6","CD247","CD40LG","CD96","CDC45","CDC6","CDON","CDT1","CENPJ","CENPT","CEP120","CEP85L","CFL2","CHAT","CHD4","CHMP1A","CHRM3","CHRNB1","CHRNG","CHST11","CHST3","CHSY1","CLCN3","CLCN5","CLCN7","CLIP2","CLTCL1","CNTNAP1","COG1","COG5","COL10A1","COL11A1","COL12A1","COL13A1","COL1A1","COL1A2","COL25A1","COL27A1","COL2A1","COL3A1","COL5A1","COL5A2","COL6A1","COL6A2","COL6A3","COL7A1","COL9A1","COL9A2","COL9A3","COLEC10","COLEC11","COLQ","COMP","COMT","COX11","COX8A","CPLX1","CPT2","CREBBP","CRTAP","CSGALNACT1","CSPP1","CTBP1","CTC1","CTDP1","CTNS","CUL7","CYP19A1","CYP27A1","CYP27B1","CYP2R1","CYP3A4","CYP7B1","DAG1","DDR2","DDRGK1","DHCR7","DHODH","DHX16","DISP1","DLL1","DMD","DMP1","DNAJC21","DNAJC30","DNMT3A","DONSON","DPAGT1","DPM1","DPYSL5","DSTYK","DVL1","DVL3","DYM","DYNC2H1","DYNC2I1","DYNC2LI1","DYNLT2B","DYRK1A","DYSF","EBP","ECEL1","EFEMP2","EFL1","EIF2AK3","EIF4A3","EIF4H","ELN","EMD","ENPP1","EP300","ERCC1","ERCC4","ERCC6","ERCC8","ERGIC1","ERLIN1","ERLIN2","ERMARD","ESCO2","EVC","EVC2","EXOC6B","EXOSC3","EXT1","EXT2","EXTL3","EYA1","EZH2","F8","FA2H","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FAT4","FBLN1","FBLN5","FBN1","FBN2","FDFT1","FGD1","FGF13","FGF8","FGF9","FGFR1","FGFR2","FGFR3","FGFRL1","FHL1","FIG4","FKBP10","FKBP6","FKRP","FLI1","FLNA","FLNB","FLNC","FLT4","FN1","FOXH1","FUT8","FZD2","GABRA1","GABRD","GABRG2","GALC","GALNS","GAN","GARS1","GAS1","GATA1","GBA2","GDF5","GDF6","GEMIN4","GET4","GFM2","GFPT1","GJA1","GJB2","GJB6","GJC2","GLB1","GLI1","GLI2","GLI3","GLRA1","GLRB","GMNN","GMPPB","GNB2","GNPTAB","GNPTG","GORAB","GP1BB","GPC3","GPC4","GPC6","GPHN","GPX4","GRIA3","GSC","GTF2I","GTF2IRD1","GTF2IRD2","GUSB","H3-3B","HACD1","HACE1","HBB","HCN1","HDAC4","HDAC8","HEATR3","HERC2","HGD","HIRA","HK1","HNRNPH1","HOXA11","HOXD13","HPGD","HPRT1","HRAS","HS2ST1","HS6ST1","HSPG2","HTT","HYAL1","IARS2","IDH1","IDUA","IFIH1","IFT172","IFT52","IFT57","IHH","IL2RA","IL2RB","IL6ST","INPP5K","INPPL1","IPO8","ITGA7","JAG2","JMJD1C","KANSL1","KAT6A","KAT6B","KDM6A","KIAA0586","KIAA0753","KIF1A","KIF1C","KIF22","KIF5A","KIF7","KLC2","KLHL41","KLHL9","KMT2D","KPNA3","KRAS","KRT5","KY","LAMA5","LAMB2","LARGE1","LBR","LETM1","LGI4","LIFR","LIMK1","LMBR1","LMBRD2","LMNA","LMNB2","LMOD3","LMX1B","LONP1","LRP4","LTBP1","LYSET","MAB21L2","MACF1","MAD2L2","MAFB","MAGEL2","MAN2B1","MAN2C1","MAP1B","MAP2K1","MAP2K2","MAP3K20","MAP3K7","MAPK8IP3","MARS1","MASP1","MATN3","MBTPS2","MCOLN1","MCTP2","MEFV","MEGF10","MEGF8","METTL27","MFN2","MIA3","MKKS","MKRN3","MLXIPL","MMP13","MMP2","MMP9","MPZ","MTX2","MUSK","MYH3","MYH8","MYL1","MYL11","MYL2","MYO18B","MYO9A","MYOT","NAA10","NALCN","NANS","NCF1","NDUFAF6","NDUFS8","NEB","NEDD4L","NEPRO","NF1","NFATC2","NFIX","NGLY1","NIPA1","NIPBL","NKX3-2","NLRP3","NODAL","NOG","NONO","NOTCH2","NPAP1","NRAS","NRCAM","NSD1","NSD2","NSDHL","NT5C2","NTRK1","OBSL1","OCA2","OCRL","OFD1","ORAI1","ORC1","ORC4","ORC6","OSGEP","OSTM1","P4HTM","PAFAH1B1","PALB2","PAM16","PCDH19","PDGFRB","PEPD","PEX16","PHEX","PI4KA","PIEZO1","PIEZO2","PIGA","PIGL","PIGT","PIGY","PIK3R2","PITX1","PKDCC","PLA2G6","PLCH1","PLOD1","PLOD2","PMP22","PNPT1","POLR1A","POLR3A","POLR3B","POLRMT","POMT1","POMT2","POR","PORCN","POU3F4","PPP2R5D","PRG4","PRKACA","PRKACB","PRKG2","PRMT7","PRR12","PSAP","PSAT1","PSMD12","PSTPIP1","PTCH1","PTDSS1","PTEN","PTH1R","PTPN2","PTPN22","PTRH2","PUF60","PUS3","PWAR1","PWRN1","PYCR1","PYCR2","RAB18","RAB23","RAB33B","RAB3GAP2","RAD21","RAD51","RAD51C","RBM8A","RECQL4","REEP1","RETREG1","RFC2","RFWD3","RINT1","RMRP","RNU12","RNU4ATAC","RPGRIP1L","RPL10","RPL13","RPS15A","RREB1","RSPRY1","RTN2","RTTN","RUNX2","RYR1","RYR3","SALL1","SAMD9L","SATB2","SCARF2","SCN1A","SCN1B","SCN2A","SCN4A","SCN9A","SCYL2","SDHA","SDHAF1","SDHB","SDHD","SEC24C","SEC31A","SELENOI","SELENON","SERPINF1","SERPINH1","SETD2","SF3B2","SF3B4","SFRP4","SGCA","SH3PXD2B","SHH","SHOX","SHROOM4","SIK3","SIL1","SIX1","SIX3","SKI","SLC10A7","SLC12A2","SLC16A2","SLC18A3","SLC1A4","SLC25A1","SLC25A46","SLC26A2","SLC2A10","SLC34A3","SLC35A2","SLC35A3","SLC35B2","SLC35D1","SLC39A14","SLC39A8","SLC52A3","SLC5A7","SLC6A5","SLC6A9","SLCO2A1","SLX4","SMAD2","SMAD3","SMARCAL1","SMC1A","SMC3","SMG9","SMO","SMOC1","SNAP25","SNORD115-1","SNORD116-1","SNRPB","SOD1","SOX9","SPARC","SPART","SPAST","SPEG","SPG11","SPTBN1","SPTBN2","SPTBN4","SRD5A3","STAG2","STAT4","STIL","STUB1","STX1A","STX1B","STXBP1","SVIL","SYNE1","SYT2","TBC1D7","TBCD","TBL2","TBX1","TBX15","TBX4","TCEAL1","TCTN3","TDGF1","TELO2","TFE3","TGDS","TGFB1","TGFB2","TGFBR2","TGIF1","THOC2","THRA","TIMM22","TIMM8A","TMEM270","TMEM67","TMTC3","TNFRSF1A","TNFSF11","TNNI2","TNNT1","TNNT3","TONSL","TOR1A","TOR1AIP1","TPM2","TPM3","TRAPPC12","TRAPPC2","TRIM2","TRIM8","TRIP11","TRPS1","TRPV4","TTC26","TTN","TUBB3","UBA1","UBA2","UBE2T","UBE3A","UBE3B","UBR7","UCHL1","UFC1","UFD1","UFSP2","UGP2","UNC80","USP9X","VAC14","VAMP1","VARS1","VCP","VDR","VPS13B","VPS33A","VPS37D","WASF1","WDR19","WDR35","WDR62","WNK1","WNT5A","WNT7A","XRCC2","XYLT1","YWHAE","YY1","ZBTB20","ZC4H2","ZEB2","ZFYVE27","ZIC2","ZIC3","ZMPSTE24","ZNF407","ZNF469","ZNF699","ZPR1","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_MAST_CELL_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M38709","pmid":"","exactSource":"HP:0100494","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100494","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MAST_CELL_MORPHOLOGY","geneSymbols":["ASXL1","CBL","CYP26C1","KIT","LYST","RUNX1","SRSF2","TET2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DEVIATION_OF_TOES":{"collection":"C5:HPO","systematicName":"M38710","pmid":"","exactSource":"HP:0100498","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100498","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEVIATION_OF_TOES","geneSymbols":["ACVR1","AEBP1","AKT1","ALG3","ATL3","ATP2B1","ATP6V1B2","B3GALT6","B3GAT3","BAZ1B","BCL7B","BMP2","BMPR1B","BUD23","C2CD3","CDKL5","CHST11","CHST3","CHSY1","CKAP2L","CLIP2","COG8","COL1A1","COL1A2","CREBBP","CWC27","DACT1","DLEC1","DNAJC30","DYRK1A","EIF4A3","EIF4H","ELN","EP300","ERF","ERMARD","EZH2","FGF9","FGFR1","FGFR2","FGFR3","FHL1","FKBP6","FLI1","FLNA","FRA10AC1","GBA1","GDF5","GTF2I","GTF2IRD1","GTF2IRD2","H4C9","HEATR3","HEPHL1","HNRNPR","HOXA13","HOXD13","IL11RA","ITCH","KAT6A","KCNH1","KCNJ2","KCNJ5","KCNMA1","KCNN3","LIMK1","METTL27","MLXIPL","MYH3","NCF1","NFIX","NOG","NONO","NUP107","PCDHGC4","PIGH","PPP1R15B","PRDM5","PSMB8","PTEN","RAB3GAP2","RBBP8","RFC2","RFX7","RNF6","RSPRY1","SALL1","SATB2","SCARF2","SF3B4","SLC16A2","SLC29A3","SMARCA2","SOX9","SRY","STX1A","TBC1D2B","TBL2","TCF12","TGFBR2","TMEM270","TP63","TRMT10A","TTI2","TWIST1","USP7","USP9X","VPS37D","WWOX","XYLT1","YY1","ZEB2","ZMIZ1","ZNF469","ZNF668"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_VITAMIN_B12_DEFICIENCY":{"collection":"C5:HPO","systematicName":"M41620","pmid":"","exactSource":"HP:0100502","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100502","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VITAMIN_B12_DEFICIENCY","geneSymbols":["ABCD1","AMN","CBLIF","CUBN","GRM7","GUCY2C","HLA-DQA1","HLA-DQB1","LMBRD1","SLC19A1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_REDUCED_BLOOD_FOLATE_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M46392","pmid":"","exactSource":"HP:0100507","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100507","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_BLOOD_FOLATE_CONCENTRATION","geneSymbols":["HLA-DQA1","HLA-DQB1","OTUD5","SLC46A1","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_VITAMIN_METABOLISM":{"collection":"C5:HPO","systematicName":"M38711","pmid":"","exactSource":"HP:0100508","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100508","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_VITAMIN_METABOLISM","geneSymbols":["ABCD1","ABCD4","ACOX2","ACSF3","AKR1D1","ALDH18A1","ALDH4A1","ALDH6A1","AMACR","AMN","APOB","BCO1","CASP10","CBLIF","CCND1","CD320","CLCN5","COL7A1","CTNS","CUBN","CYP27B1","CYP2R1","CYP3A4","CYP7A1","CYP7B1","DHFR","DLAT","DMP1","DNAJC21","DZIP1L","EFL1","ELN","ENPP1","FARSB","FAS","FASLG","FBLN5","FGF23","FOCAD","FTCD","GALNT2","GALNT3","GALT","GATA1","GBA2","GPR35","GRM7","GUCY2C","HCFC1","HLA-DQA1","HLA-DQB1","IARS1","KL","LMBRD1","LRP5","MMAA","MMAB","MMACHC","MMADHC","MMP1","MMUT","MST1","MTHFD1","MTR","MTRR","MTTP","OCRL","OTUD5","PKHD1","PNPLA8","PRDX1","PRKCD","PTH1R","RASGRP1","RNF13","RPL11","RPS10","SAR1B","SBDS","SEMA4D","SIM1","SLC10A1","SLC19A1","SLC30A10","SLC34A1","SLC34A3","SLC37A4","SLC46A1","SLC51B","SLC52A1","SPTBN1","SRP54","SUCLA2","SUCLG1","TCF4","TCN2","TJP2","TTPA","TTR","UROS","VDR","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_VITAMIN_D_METABOLISM":{"collection":"C5:HPO","systematicName":"M38712","pmid":"","exactSource":"HP:0100511","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100511","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_VITAMIN_D_METABOLISM","geneSymbols":["ACOX2","ALDH18A1","AMACR","CLCN5","COL7A1","CTNS","CYP27B1","CYP2R1","CYP3A4","DMP1","DNAJC21","DZIP1L","EFL1","ELN","ENPP1","FARSB","FBLN5","FGF23","FOCAD","GALNT2","GALNT3","GALT","GATA1","GPR35","HLA-DQA1","HLA-DQB1","IARS1","KL","LRP5","MMP1","MST1","MTTP","OCRL","PKHD1","PTH1R","RPL11","RPS10","SBDS","SEMA4D","SLC10A1","SLC34A1","SLC34A3","SLC37A4","SLC51B","SRP54","TCF4","UROS","VDR"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LOW_LEVELS_OF_VITAMIN_D":{"collection":"C5:HPO","systematicName":"M38713","pmid":"","exactSource":"HP:0100512","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100512","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOW_LEVELS_OF_VITAMIN_D","geneSymbols":["ACOX2","ALDH18A1","COL7A1","CTNS","DNAJC21","DZIP1L","EFL1","ELN","FARSB","FBLN5","FGF23","FOCAD","GALNT2","GALT","GATA1","GPR35","HLA-DQA1","HLA-DQB1","MMP1","MST1","MTTP","OCRL","PKHD1","PTH1R","RPL11","RPS10","SBDS","SEMA4D","SLC10A1","SLC37A4","SLC51B","SRP54","TCF4","UROS"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CIRCULATING_VITAMIN_E_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M38715","pmid":"","exactSource":"HP:0100514","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100514","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_VITAMIN_E_CONCENTRATION","geneSymbols":["AKR1D1","AMACR","APOB","CYP7A1","DNAJC21","DZIP1L","EFL1","FOCAD","GBA2","GPR35","MST1","MTTP","PKHD1","SBDS","SEMA4D","SLC30A10","SLC51B","SRP54","TCF4","TTPA"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_POLLAKISURIA":{"collection":"C5:HPO","systematicName":"M38716","pmid":"","exactSource":"HP:0100515","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100515","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POLLAKISURIA","geneSymbols":["ALDH18A1","BNC2","DYSF","FA2H","FAR1","FMR1","HOGA1","NBN","NOTCH2NLC"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DYSURIA":{"collection":"C5:HPO","systematicName":"M38717","pmid":"","exactSource":"HP:0100518","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100518","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DYSURIA","geneSymbols":["AGXT","AIP","ALMS1","APRT","BNC2","CARMIL2","CISD2","GPR101","HLA-B","HMBS","HOGA1","HPRT1","IKZF1","LAMA3","LAMB3","LAMC2","SPART","WFS1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ANURIA":{"collection":"C5:HPO","systematicName":"M38718","pmid":"","exactSource":"HP:0100519","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100519","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANURIA","geneSymbols":["ACE","AGT","AGTR1","C3","CD46","CFB","CFH","CFHR1","CFHR3","CFI","MYH11","REN","THBD"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_OLIGURIA":{"collection":"C5:HPO","systematicName":"M38719","pmid":"","exactSource":"HP:0100520","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100520","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OLIGURIA","geneSymbols":["APRT","CAV1","CCN2","CCR6","DZIP1L","HLA-DRB1","IRF5","LPIN1","MT-CO1","MT-CO3","OBSCN","PAX2","PBX1","PKHD1","RYR1","SLC22A12","SLC25A20"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NEOPLASM_OF_THE_THYMUS":{"collection":"C5:HPO","systematicName":"M38720","pmid":"","exactSource":"HP:0100521","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100521","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_THYMUS","geneSymbols":["AKT1","CDKN1A","CDKN1B","CDKN2B","CDKN2C","MEN1","PTEN"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LIVER_ABSCESS":{"collection":"C5:HPO","systematicName":"M38721","pmid":"","exactSource":"HP:0100523","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100523","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIVER_ABSCESS","geneSymbols":["ABCB4","CTSC","CYBA","CYBB","CYBC1","IGHG2","IGKC","IRAK4","NCF1","NCF2","NCF4","PKHD1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_BLOOD_PHOSPHATE_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M38722","pmid":"","exactSource":"HP:0100529","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100529","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BLOOD_PHOSPHATE_CONCENTRATION","geneSymbols":["ABCC6","ALDOB","ALPL","AP2S1","CACNA1S","CASR","CCDC134","CDC73","CLCN5","CLCN7","COL4A3","CTNS","CYP27B1","CYP2R1","CYP3A4","DMP1","EHHADH","ENPP1","FAH","FAM111A","FAM20C","FGF23","GABRA3","GALNT3","GATM","GCM2","GNA11","GNAS","GNAS-AS1","HNF4A","HRAS","INPPL1","KCNJ18","KL","KRAS","LPIN1","MEN1","MT-CO1","MT-CO3","NAB2","NDUFAF6","NHERF1","NRAS","OBSCN","OCRL","PHEX","POLRMT","PRKAR1A","PTH","PTH1R","RYR1","SAMD9","SLC2A2","SLC34A1","SLC34A2","SLC34A3","SNX10","STAT6","STX16","TBCE","TCIRG1","TNFRSF11B","TNFSF11","VDR"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CIRCULATING_CALCIUM_PHOSPHATE_REGULATING_HORMONE_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M38723","pmid":"","exactSource":"HP:0100530","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100530","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_CALCIUM_PHOSPHATE_REGULATING_HORMONE_CONCENTRATION","geneSymbols":["ADORA2A","AIRE","CASR","CDC73","CDKN1A","CDKN1B","CDKN2B","CDKN2C","CLDN16","CLDN19","CYP24A1","CYP27B1","CYP2R1","CYP3A4","DLST","FAM20A","FH","GCM2","GNAS","GNAS-AS1","KIF1B","KL","MAX","MDH2","MEN1","NF1","OCRL","PDE4D","PHEX","PRKAR1A","PTH","RET","RNU4ATAC","SDHA","SDHAF2","SDHB","SDHC","SDHD","SLC25A11","SLC34A1","SLC34A3","SOST","STX16","TBCE","TBX1","TMEM127","TRPV6","VDR","VHL"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INFLAMMATORY_ABNORMALITY_OF_THE_EYE":{"collection":"C5:HPO","systematicName":"M38724","pmid":"","exactSource":"HP:0100533","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100533","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INFLAMMATORY_ABNORMALITY_OF_THE_EYE","geneSymbols":["AARS1","ABCA12","ADAM17","AEBP1","AIRE","ALDH3A2","ALOX12B","ALOXE3","ANKRD55","AP1B1","AP1S3","APOE","ARPC1B","ATOH7","BAP1","BCL10","BIRC3","BLM","BLNK","BRD4","BTD","BTK","BTNL2","C4A","CAPN5","CARS1","CASP10","CCR1","CD19","CD247","CD27","CD79A","CD79B","CERS3","CLTCL1","COL17A1","COL4A5","COL4A6","COL7A1","CR2","CRLF1","CST6","CTC1","CTLA4","CYBA","CYBB","CYBC1","CYSLTR2","DDB2","DKC1","DNASE1L3","EGFR","EPCAM","ERAP1","ERCC1","ERCC2","ERCC3","ERCC4","ERCC5","ERCC6","ERCC8","ERF","FAS","FASLG","FBN1","FERMT1","FGF10","FGFR2","FGFR3","FOXC2","FOXP1","GATA1","GJA1","GJB2","GJB6","GNA11","GNAQ","GNAS","GPR35","GSN","GTF2E2","GTF2H5","HDAC8","HLA-A","HLA-B","HLA-DPA1","HLA-DPB1","HLA-DRB1","HLCS","IARS2","ICOS","IFNGR1","IGHM","IGLL1","IGSF3","IKBKG","IKZF1","IL10","IL12A","IL12A-AS1","IL12B","IL23R","IL2RA","IL2RB","IL36RN","IL6","IL6ST","IRF4","KAT6A","KLRC4","LACC1","LBR","LRBA","LRRC8A","MAB21L1","MALT1","MBTPS2","MEFV","MIF","MLX","MMP1","MPLKIP","MSMO1","MST1","MTTP","NCF1","NCF2","NCF4","NHP2","NIPAL4","NIPBL","NLRP1","NLRP3","NOD2","NOP10","NPM1","NTRK1","PARN","PAX1","PAX6","PERCC1","PIGN","PIK3R1","PLCD1","PLEC","PLG","PLXND1","PNPLA1","POLH","PRKCD","PRTN3","PSMB4","PSMB8","PSMB9","PTPN2","PTPN22","RAD21","RAG1","RAG2","RASGRP1","RECQL","REV3L","RNF113A","RNF125","RTEL1","SAMD9","SCN9A","SDR9C7","SEMA4D","SF3B1","SLC29A3","SLC35C1","SLC39A4","SLC39A7","SMC1A","SMC3","SPI1","SREBF1","ST14","STAT4","STUB1","STX11","STX16","SULT2B1","TARS1","TBX4","TCF3","TCF4","TERC","TERT","TFRC","TGM1","TINF2","TKT","TLR4","TNFAIP3","TNFRSF13B","TNFRSF13C","TNFRSF1A","TP63","TRAF3IP2","TYMS","UBAC2","UROD","UROS","USB1","VPS33A","WAS","WIPF1","WRAP53","XPA","XPC","ZEB1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_EPISCLERITIS":{"collection":"C5:HPO","systematicName":"M38725","pmid":"","exactSource":"HP:0100534","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100534","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EPISCLERITIS","geneSymbols":["DNASE1L3","MBTPS2","NLRP3","PSMB8","SLC29A3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_SUPRAORBITAL_RIDGES":{"collection":"C5:HPO","systematicName":"M38726","pmid":"","exactSource":"HP:0100538","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100538","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_SUPRAORBITAL_RIDGES","geneSymbols":["ABCC9","AGPAT2","ANTXR1","AP1G1","ARX","BRAF","BSCL2","CAV1","CAVIN1","CHD8","CITED2","COL11A2","EDA","ERCC4","ESCO2","FBXO31","FGFR1","FGFR2","FGFR3","FHL1","FLNA","FLT4","FOS","FREM1","GATA4","GATA5","GATA6","GDF1","GHR","GJA5","GRIA3","HBA1","HBA2","HDAC8","IDS","JAG1","JARID2","KCNJ8","KDR","KIF11","KNSTRN","KRAS","LAS1L","LBR","LIG4","LMBRD2","LZTR1","MAP2K1","MAP2K2","MAP3K7","MASP1","MEGF8","MYOD1","NEU1","NKX2-5","NKX2-6","NSUN2","OPHN1","PAK3","PDGFRB","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PHF6","PHF8","PIK3CD","PIK3R1","PITX2","POLR3A","PPARG","PPP1R21","PRMT7","PRR12","PSMC3","PTCH1","PTH1R","RAB23","RBM10","RBMX","RPS6KA3","SEC23A","SHANK3","SIK3","SKIC3","SLC25A24","SOST","SOX11","SP7","SPOP","SUZ12","TAF1","TBX1","TCF12","TOE1","TRAPPC9","TWIST1","UBE2A","ZFPM2","ZIC1","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PERIORBITAL_EDEMA":{"collection":"C5:HPO","systematicName":"M43581","pmid":"","exactSource":"HP:0100539","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100539","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERIORBITAL_EDEMA","geneSymbols":["ACTB","ACTG1","ACTN4","ADAMTS2","AIP","ANKFY1","ANLN","ANTXR1","APOL1","ARHGAP24","ARHGDIA","BAZ1B","BCL7B","BUD23","CAMTA1","CCBE1","CD2AP","CDH11","CLIP2","COL1A1","COL4A3","COL5A1","COL5A2","COQ8B","CRB2","CTLA4","DAAM2","DHX30","DNAJC30","DNMT3B","DUX4","DUX4L1","EIF4H","ELN","EMP2","EPHB4","FKBP6","FOXG1","FRG1","FRMD4A","GAPVD1","GNPTAB","GPR101","GSN","GTF2I","GTF2IRD1","GTF2IRD2","HLA-DPA1","HLA-DPB1","IGSF3","INF2","KAT6A","KCTD1","KIF1A","KNSTRN","KPTN","LIMK1","LTBP4","MAGI2","MED12L","METTL27","MLXIPL","MYD88","MYO1E","NCF1","NPHS1","NPHS2","NUP107","NUP133","NUP160","NUP205","NUP37","NUP85","NUP93","PAX2","PEX2","PEX5","PIEZO1","PIK3CD","PLCE1","POMP","POU4F1","PRTN3","PSMB4","PSMB9","PSPH","PTPN22","PTPRO","RFC2","RIN2","SERPING1","SHANK3","SLC29A3","SLC35C1","SMCHD1","SNX14","SOX18","SPTBN1","STX1A","SUMF1","TBC1D8B","TBL2","TGFBI","TMEM270","TNFRSF1A","TRPC6","VPS37D","WT1","XPNPEP2","ZNHIT3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PALPEBRAL_EDEMA":{"collection":"C5:HPO","systematicName":"M38727","pmid":"","exactSource":"HP:0100540","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100540","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PALPEBRAL_EDEMA","geneSymbols":["ACTB","ACTG1","ADAMTS2","AIP","ANTXR1","CAMTA1","CDH11","COL1A1","COL5A1","COL5A2","DHX30","DNMT3B","DUX4","DUX4L1","FOXG1","FRG1","FRMD4A","GNPTAB","GPR101","GSN","KAT6A","KCTD1","KIF1A","KNSTRN","KPTN","MED12L","PEX2","PEX5","PIK3CD","POU4F1","PSPH","RIN2","SHANK3","SLC29A3","SLC35C1","SMCHD1","SNX14","SOX18","SPTBN1","TGFBI","XPNPEP2","ZNHIT3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FEMORAL_HERNIA":{"collection":"C5:HPO","systematicName":"M38728","pmid":"","exactSource":"HP:0100541","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100541","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FEMORAL_HERNIA","geneSymbols":["ADAMTS2","ADAMTSL2","ATP7A","CAMSAP1","COL1A1","COL1A2","DIS3L2","DVL1","DVL3","EHMT1","FANCB","FZD2","PTDSS1","SLC26A2","SLC2A10","SMAD4","TBX1","TRIP11","WNT5A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_LOCALIZATION_OF_KIDNEY":{"collection":"C5:HPO","systematicName":"M38729","pmid":"","exactSource":"HP:0100542","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100542","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LOCALIZATION_OF_KIDNEY","geneSymbols":["ADA2","ADAMTS3","AFF3","AFF4","AKT3","APC","ARID1A","ARID1B","ARID2","BAZ1B","BCL7B","BICRA","BMPER","BRAF","BRCA1","BRCA2","BRIP1","BUD23","CAPN15","CC2D2A","CCBE1","CCND2","CCNQ","CD96","CDC42BPB","CFAP418","CHD7","CHN1","CHST14","CHUK","CLIP2","COLEC10","COLEC11","CTU2","CWC27","DACT1","DDB1","DDX59","DDX6","DEAF1","DHCR7","DKC1","DNA2","DNAJC30","DPF2","DSE","DSTYK","DYNC2LI1","DYRK1A","EBP","EIF4H","ELN","ERCC4","ESCO2","EXTL3","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FAT4","FGFR1","FGFR2","FKBP6","FLII","FUZ","GATA1","GLI3","GNB2","GRB10","GREB1L","GTF2I","GTF2IRD1","GTF2IRD2","HEATR3","HMGA2","HNF1B","HNRNPH1","HNRNPU","HOXD13","HRAS","IQSEC2","JAM3","KAT5","KDM6A","KMT2D","KNSTRN","KRAS","LEMD3","LIMK1","LRP4","MAD2L2","MAFB","MAP3K7","MCM5","MCTP2","METTL27","MLXIPL","MNX1","MRPS34","MYCN","NCF1","NIPBL","NRAS","NRIP1","PALB2","PAX2","PBX1","PIK3CD","PIK3R2","POR","PORCN","PTPN11","PUF60","RAB18","RAB3GAP1","RAB3GAP2","RAD51","RAD51C","RAF1","RAI1","RARB","RBBP8","RBM10","RBM8A","RECQL4","RFC2","RFWD3","RIPK4","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS7","RTTN","SALL1","SALL4","SC5D","SEMA3E","SF3B2","SLX4","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SMOC1","SMS","SNRPB","SON","SOX11","SOX4","SPECC1L","SPINK5","SRY","SSR4","STAG1","STRA6","STX1A","TBC1D20","TBL2","TBX22","TCTN3","THOC6","TMEM270","TRIP13","TSR2","UBA2","UBE2A","UBE2T","USP9X","VANGL1","VPS37D","WAC","WNT4","WNT7B","WT1","XRCC2","XRCC4","ZEB2","ZIC3","ZMYM2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_COGNITIVE_IMPAIRMENT":{"collection":"C5:HPO","systematicName":"M38730","pmid":"","exactSource":"HP:0100543","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100543","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_COGNITIVE_IMPAIRMENT","geneSymbols":["AARS1","AARS2","AASS","ABCA12","ABCA5","ABCA7","ABCD1","ACSF3","ACTB","ACTL6B","ADA2","ADAMTSL4","ADD3","ADGRV1","ADH1C","AFG3L2","AGK","AIFM1","AKT1","ALDH18A1","ALG13","ALMS1","ALOX12B","ALOXE3","ALS2","AMACR","ANXA11","AP3B2","AP5Z1","APOE","APOL2","APOL4","APP","APTX","ARL6IP6","ARMC5","ARSA","ARV1","ASAH1","ASPRV1","ATM","ATN1","ATP13A2","ATP1A2","ATP1A3","ATP6V0A2","ATP6V1A","ATP6V1E1","ATP7B","ATR","ATRIP","ATRX","ATXN1","ATXN10","ATXN2","ATXN3","ATXN7","ATXN8OS","AUH","B3GALNT2","BAP1","BBS12","BBS5","BDNF","BMPR1A","BRAF","BSCL2","C19orf12","C4A","C9orf72","CABP4","CACNA1A","CACNA1B","CACNA1G","CACNA2D1","CAMTA1","CARS2","CCM2","CCNF","CCR1","CDH23","CDK19","CELF2","CENPE","CENPJ","CEP152","CERS1","CFAP43","CFH","CFHR1","CFHR3","CHCHD10","CHCHD2","CHD2","CHI3L1","CHMP2B","CHRM3","CHRNA2","CHRNA4","CHRNB2","CHRNG","CISD2","CLCF1","CLMP","CLN3","CLN5","CLN6","CLN8","CLTC","CNKSR2","CNTNAP2","COA3","COASY","COG2","COL3A1","COL4A1","COMT","COQ2","COX6B1","CP","CPT1C","CREBBP","CRH","CRLF1","CRPPA","CSF1R","CST3","CSTB","CTC1","CTDP1","CTNS","CTSD","CTSF","CTSH","CUBN","CUX2","CYC1","CYFIP2","CYLD","CYP27A1","CYP2U1","CYP4F22","CYP7B1","DALRD3","DAOA","DARS2","DCAF17","DCC","DCTN1","DCX","DDB2","DEPDC5","DGUOK","DHDDS","DLAT","DMD","DMPK","DNA2","DNAJC13","DNAJC3","DNAJC5","DNAJC6","DNM1","DNM1L","DNMT1","DRD3","DSG4","DZIP1L","ECM1","EDN3","EEF1A2","EIF2B1","EIF2B2","EIF2B5","EIF4G1","EP300","EPCAM","EPM2A","ERAP1","ERBB4","ERCC2","ERCC3","ERCC4","ERCC5","ERCC6","ERCC8","FA2H","FAN1","FAR1","FAS","FBN1","FBXO28","FBXO7","FGD1","FGF12","FGF13","FGF14","FGFR3","FKRP","FKTN","FLNA","FMR1","FRRS1L","FTL","FUCA1","FUS","FZR1","GABBR2","GABRA1","GABRA2","GABRA5","GABRB2","GABRB3","GABRD","GABRG2","GALC","GALK1","GALT","GBA1","GBA2","GBE1","GCDH","GCH1","GDAP2","GDF3","GDF5","GDF6","GDNF","GIGYF2","GJB2","GJC2","GLA","GLB1","GLRX5","GLUD2","GM2A","GMPPB","GNA11","GNAS","GNE","GNPTAB","GON7","GOSR2","GPC4","GRID2","GRIN2A","GRIN2D","GRN","GSN","GTPBP3","HCN1","HCRT","HEPACAM","HEXA","HEXB","HGSNAT","HIBCH","HLA-B","HLA-DQB1","HLA-DRB1","HMBS","HNF4A","HNRNPA1","HNRNPA2B1","HSD17B10","HTR2A","HTRA1","HTRA2","HTT","IBA57","IDS","IDUA","IFNGR1","IKBKG","IL10","IL12A","IL12A-AS1","IL23R","IRAK1","IRF6","ITM2B","ITPR1","JAM2","JPH3","KARS1","KCNA2","KCNB1","KCNC1","KCNC3","KCND3","KCNQ2","KCNQ3","KCNT1","KCTD7","KIF1C","KIF5A","KLLN","KLRC4","KMT2A","KMT2B","KRAS","KRIT1","KRT81","KRT83","KRT86","L1CAM","LAGE3","LAMA1","LAMA2","LAMP2","LARGE1","LARS2","LBX1","LIG3","LIPN","LMNB1","LRPPRC","LRRK2","LTBP4","LYST","LZTFL1","MAG","MAGEL2","MAOA","MAPK10","MAPT","MARS2","MATR3","MBTPS2","MCOLN1","MECP2","MEFV","MEN1","MEOX1","MFN2","MFSD8","MICOS13","MLH1","MLH3","MMACHC","MME","MOG","MPO","MSH2","MSH6","MT-ATP6","MT-CO1","MT-CO2","MT-CO3","MT-CYB","MT-ND1","MT-ND4","MT-ND5","MT-ND6","MT-RNR1","MT-TC","MT-TE","MT-TF","MT-TH","MT-TK","MT-TL1","MT-TP","MT-TQ","MT-TS1","MT-TS2","MT-TT","MT-TV","MT-TW","MTFMT","MTHFR","MTOR","MTRFR","MYD88","MYH3","MYO1H","MYORG","NAGA","NAGLU","NAGS","NBN","NDP","NDUFA1","NDUFA6","NECAP1","NEFL","NF1","NF2","NFIA","NHLRC1","NIPA1","NIPA2","NIPAL4","NKX2-1","NKX6-2","NOS3","NOTCH2NLC","NOTCH3","NPC1","NPC2","NPRL2","NPRL3","NPTX1","NR3C1","NR4A2","NRAS","NTRK2","NUP107","NUP133","NUP85","NUS1","OCRL","OPA1","OPA3","OSGEP","P2RY11","PACS2","PAH","PANK2","PARK7","PARS2","PCDH19","PCNT","PDCD10","PDE10A","PDE11A","PDGFB","PDGFRB","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PHOX2B","PI4KA","PIDD1","PIGA","PIK3CA","PINK1","PKHD1","PLA2G6","PLAA","PLAU","PLCB1","PLEKHG4","PLK4","PLP1","PMPCA","PMS1","PMS2","PNKP","PNPLA6","PNPT1","PODXL","POLG","POLG2","POLR3K","POMGNT1","POMT1","POMT2","PORCN","POU4F1","PPP2R2B","PPP3CA","PPT1","PRDM8","PRDX1","PRICKLE1","PRKAR1A","PRKAR1B","PRKCG","PRKN","PRKRA","PRNP","PRORP","PRRT2","PSAP","PSEN1","PSEN2","PTEN","PTPN22","PTS","QDPR","RAB27A","RAB39B","RBBP8","RBM12","RBM28","REEP2","RIN2","RMRP","RNASEH1","RNF216","RNU4ATAC","ROBO3","ROGDI","RPS20","RRM2B","RTN4R","SAMD9L","SAT1","SCARB2","SCN1A","SCN1B","SCN2A","SCN3A","SCN8A","SCN9A","SDCCAG8","SDHA","SDHAF1","SDHB","SDHC","SDHD","SDR9C7","SEC23B","SEMA4A","SERPINI1","SGPL1","SIGMAR1","SIM1","SKIC3","SLC12A5","SLC13A3","SLC13A5","SLC18A2","SLC1A2","SLC1A3","SLC20A2","SLC25A13","SLC25A15","SLC25A22","SLC25A4","SLC2A1","SLC2A3","SLC37A4","SLC38A3","SLC39A14","SLC44A1","SLC7A6OS","SLC7A7","SMARCB1","SMARCE1","SMC1A","SMC3","SMO","SMPD1","SNCA","SNCAIP","SNCB","SNORD118","SORL1","SOST","SPART","SPAST","SPG11","SPG21","SPG7","SPP1","SPR","SPRED1","SPTBN1","SPTBN2","SPTLC1","SQSTM1","STARD7","STAT4","STUB1","STX1B","SUFU","SULT2B1","SUMF1","SYN2","SYNGAP1","SYNJ1","SZT2","TARDBP","TBC1D24","TBCK","TBK1","TBP","TERT","TGFBR2","TGM1","TIA1","TIMM8A","TIMMDC1","TINF2","TK2","TLR3","TLR4","TMEM106B","TMEM240","TNFSF4","TOMM40","TP53","TP53RK","TPRKB","TRAF7","TRAIP","TRAK1","TRANK1","TREM2","TREX1","TRPM7","TSC1","TSC2","TSFM","TTC19","TTPA","TTR","TUBA4A","TUBB2B","TUBB4A","TUBG1","TWNK","TYMP","TYROBP","UBA1","UBA5","UBAC2","UBAP1","UBQLN2","UBTF","UCHL1","UGT1A1","USF3","USP48","USP8","VAMP1","VAPB","VCP","VPS13A","VPS13C","VPS35","VPS37A","WDR4","WDR45","WDR73","WFS1","WWOX","XPA","XPC","XPR1","XRCC4","YRDC","YWHAG","YY1","ZFYVE26","ZNF365"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NEOPLASM_OF_THE_HEART":{"collection":"C5:HPO","systematicName":"M38731","pmid":"","exactSource":"HP:0100544","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100544","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_HEART","geneSymbols":["ACTG2","IFNG","KCTD1","LMOD1","MYH11","MYH8","MYLK","PDE11A","PRKAR1A","PTCH1","SOX6","TSC1","TSC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ARTERIAL_STENOSIS":{"collection":"C5:HPO","systematicName":"M38732","pmid":"","exactSource":"HP:0100545","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100545","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ARTERIAL_STENOSIS","geneSymbols":["ABCA1","ABCC6","ABCG5","ABCG8","ACTA2","ADA2","AEBP1","AGXT","APOA1","APOA2","APOB","APOE","ARL6IP6","ATP7A","BAZ1B","BCL7B","BEST1","BRCC3","BUD23","CELA2A","CEP19","CLIP2","COL3A1","CYP27A1","CYP7A1","DNAJC30","EIF4H","ELN","ENPP1","EPHX2","ERCC6","ERCC8","ESR1","F12","FBN1","FIG4","FKBP6","FOXE3","GEMIN4","GHR","GNA11","GPIHBP1","GTF2I","GTF2IRD1","GTF2IRD2","HEY2","HLA-B","HTRA1","IDS","IL12B","JAG1","JAK2","LDLR","LDLRAP1","LIMK1","LIPC","LMNA","LOX","LRP6","MAT2A","MAX","MEF2A","METTL27","MFAP5","MLX","MLXIPL","MPL","MYH11","MYLK","NCF1","NF1","NOTCH3","PCNT","PCSK9","PNPLA2","POU3F4","PPARG","PPP1R17","PRKG1","RET","RFC2","SDHB","SDHD","SERPIND1","SLC2A10","SMAD2","SMAD3","SMAD4","SMPD1","STAT1","STX1A","TBL2","TGFB2","TGFB3","TGFBR1","TGFBR2","THPO","THSD4","TMEM127","TMEM270","TOM1","VAC14","VHL","VPS37D","XYLT1","XYLT2","YY1AP1","ZNF687"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CAROTID_ARTERY_STENOSIS":{"collection":"C5:HPO","systematicName":"M46394","pmid":"","exactSource":"HP:0100546","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100546","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CAROTID_ARTERY_STENOSIS","geneSymbols":["ABCA1","ABCG8","AEBP1","HTRA1","MYH11","YY1AP1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_TENDON_RUPTURE":{"collection":"C5:HPO","systematicName":"M46395","pmid":"","exactSource":"HP:0100550","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100550","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TENDON_RUPTURE","geneSymbols":["COL1A2","EMILIN1","HGD","IFIH1","TTR"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NEOPLASM_OF_THE_TRACHEOBRONCHIAL_SYSTEM":{"collection":"C5:HPO","systematicName":"M38735","pmid":"","exactSource":"HP:0100552","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100552","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_TRACHEOBRONCHIAL_SYSTEM","geneSymbols":["BRAF","CASP8","COL4A5","COL4A6","CYP2A6","DICER1","EGFR","ERBB2","ERCC6","FASLG","IRF1","KEAP1","KRAS","MAP3K8","MUC5B","PIK3CA","PPP2R1B","PRKN","SFTPA2","SFTPC","SLC22A18","TERT"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ASYMMETRIC_GROWTH":{"collection":"C5:HPO","systematicName":"M38736","pmid":"","exactSource":"HP:0100555","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100555","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ASYMMETRIC_GROWTH","geneSymbols":["ACTB","AGGF1","AKT1","AKT2","ARL6IP6","BPTF","CASZ1","CDKN1C","COL2A1","CTSK","DACT1","DMP1","DNMT3A","EBP","EFNB1","ENPP1","EXT1","EXT2","FN1","GABRD","GNA11","GNAQ","GRB10","H19","HMGA2","HNF1B","HOXD13","HRAS","HSPG2","IGF2","IKBKG","KAT6A","KCNAB2","KCNQ1","KCNQ1OT1","KRAS","LEMD3","LUZP1","MAPK1","MAPRE2","MMP23B","MNX1","NRAS","PDPN","PIK3CA","PLAG1","PORCN","PRDM16","PRKCZ","PSMD12","PTEN","PTHLH","RASA1","RERE","RNF125","SALL1","SATB2","SETD5","SKI","SPEN","TONSL","TRPV4","TUBB","UBE4B","USP9X","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HEMIATROPHY":{"collection":"C5:HPO","systematicName":"M38737","pmid":"","exactSource":"HP:0100556","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100556","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEMIATROPHY","geneSymbols":["BPTF","EBP","EFNB1","HRAS","PSMD12","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LOWER_LIMB_ASYMMETRY":{"collection":"C5:HPO","systematicName":"M38738","pmid":"","exactSource":"HP:0100559","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100559","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOWER_LIMB_ASYMMETRY","geneSymbols":["ACTB","AGGF1","AKT1","CASZ1","COL2A1","CTSK","DACT1","DMP1","EBP","ENPP1","EXT1","EXT2","FN1","GABRD","GNAQ","GRB10","H19","HSPG2","IGF2","KAT6A","KCNAB2","KRAS","LEMD3","LUZP1","MAPK1","MAPRE2","MMP23B","MNX1","PDPN","PIK3CA","PORCN","PRDM16","PRKCZ","PTEN","RASA1","RERE","SALL1","SATB2","SETD5","SKI","SPEN","TONSL","TRPV4","TUBB","UBE4B","USP9X"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_UPPER_LIMB_ASYMMETRY":{"collection":"C5:HPO","systematicName":"M38739","pmid":"","exactSource":"HP:0100560","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100560","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UPPER_LIMB_ASYMMETRY","geneSymbols":["ACTB","AGGF1","AKT1","EBP","H19","HOXD13","IGF2","MAPRE2","PORCN","PTEN","PTHLH","TUBB"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SPINAL_CORD_LESION":{"collection":"C5:HPO","systematicName":"M38740","pmid":"","exactSource":"HP:0100561","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100561","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPINAL_CORD_LESION","geneSymbols":["ABCA1","ACY1","B4GAT1","CCM2","CCNQ","CLP1","COG4","CREBBP","CTNNB1","DDHD2","DDR2","DKK1","EP300","EXT1","EXT2","FBLN1","FOXF1","GLRX5","HMGA2","HNRNPK","IL11RA","KDM1A","KPNA3","KRIT1","LEMD3","MBTPS2","NFIA","NOTCH2","NOTCH3","NRAS","PDCD10","PIK3CA","RAI1","RBM8A","RTN2","RUNX2","SETD2","SH2B1","SLC33A1","SPARC","TBX6","UBAP1","VANGL1","WASHC5"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NEOPLASM_OF_THE_ENDOCRINE_SYSTEM":{"collection":"C5:HPO","systematicName":"M38741","pmid":"","exactSource":"HP:0100568","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100568","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_ENDOCRINE_SYSTEM","geneSymbols":["ABCD1","AIP","AKT1","ALG5","ALG9","APC","ARID1A","ARID1B","ARID2","ARMC5","ATP7A","ATRX","BAP1","BICC1","BMPR1A","BRAF","CACNA1S","CASP10","CASR","CCND1","CDC73","CDH23","CDKN1A","CDKN1B","CDKN1C","CDKN2A","CDKN2B","CDKN2C","CHEK2","CLCN2","CLCNKB","COQ6","CTNNB1","CYP11B1","CYP11B2","DAXX","DICER1","DLST","DNAJB11","DNMT3A","DPF2","ECE1","EDN3","EDNRB","EPAS1","EPCAM","ERBB2","ERBB3","FAN1","FAS","FASLG","FH","FLCN","FOXE1","FOXI1","GANAB","GCGR","GCM2","GDNF","GNAS","GPR101","GREM1","HABP2","HEPACAM","HRAS","IDH1","IDH2","IFNG","IFT140","IGF2","JAG1","KCNE3","KCNJ10","KCNJ11","KCNQ1","KCNQ1OT1","KEAP1","KIF1B","KLLN","KRAS","LMNA","LZTR1","MAFA","MAX","MDH2","MDM2","MEN1","MINPP1","MLH1","MLH3","MSH2","MSH3","MSH6","NF1","NF2","NKX2-1","NR3C1","NRAS","NRTN","PDE11A","PDGFB","PIK3CA","PKD1","PKD2","PMS1","PMS2","PRKAR1A","PRKCD","PTEN","RASGRP1","RET","RPS20","SCN4A","SDHA","SDHAF2","SDHB","SDHC","SDHD","SEC23B","SEMA3C","SEMA3D","SEMA4A","SLC12A3","SLC25A11","SLC26A4","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SMO","SOX11","SOX4","SREBF1","SRGAP1","SUFU","TERT","TG","TGFBR2","TMEM127","TP53","TRAF7","TSC1","TSC2","USF3","USP48","USP8","VHL","WRN","YY1","ZNRF3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALLY_OSSIFIED_VERTEBRAE":{"collection":"C5:HPO","systematicName":"M38742","pmid":"","exactSource":"HP:0100569","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100569","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALLY_OSSIFIED_VERTEBRAE","geneSymbols":["ALPL","BMPER","COL11A2","COL2A1","DYNC2H1","DYNC2I1","DYNC2I2","EBP","FLNB","HSPG2","IFT80","INPPL1","LBR","LEMD3","LFNG","NKX3-2","RMRP","RNU4ATAC","RSPO2","SLC26A2","SOX9","TRAPPC2","TRIP11","VPS35L","WDR35","WNT3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CARCINOID_TUMOR":{"collection":"C5:HPO","systematicName":"M38743","pmid":"","exactSource":"HP:0100570","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100570","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CARCINOID_TUMOR","geneSymbols":["APC","ATRX","CDKN1A","CDKN1B","CDKN2B","CDKN2C","DAXX","IFNG","LMNA","MEN1","SDHD","TSC1","TSC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CARDIAC_DIVERTICULUM":{"collection":"C5:HPO","systematicName":"M38744","pmid":"","exactSource":"HP:0100571","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100571","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CARDIAC_DIVERTICULUM","geneSymbols":["BMPR1A","EPCAM","FAN1","KRAS","MLH1","MLH3","MSH2","MSH6","PIK3CA","PMS1","PMS2","RPS20","SEMA4A","TGFBR2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BILIARY_TRACT_NEOPLASM":{"collection":"C5:HPO","systematicName":"M38745","pmid":"","exactSource":"HP:0100574","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100574","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BILIARY_TRACT_NEOPLASM","geneSymbols":["ARSA","BMP6","BRCA1","BRCA2","DZIP1L","GPR35","HFE","MST1","PKHD1","PSAP","PTPN3","RNF43","SEMA4D","STK11","TCF4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NEOPLASM_OF_THE_GALLBLADDER":{"collection":"C5:HPO","systematicName":"M38746","pmid":"","exactSource":"HP:0100575","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100575","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_GALLBLADDER","geneSymbols":["ARSA","GPR35","MST1","PSAP","SEMA4D","TCF4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_AMAUROSIS_FUGAX":{"collection":"C5:HPO","systematicName":"M38747","pmid":"","exactSource":"HP:0100576","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100576","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AMAUROSIS_FUGAX","geneSymbols":["ADA2","ADRA2B","ATP1A2","BMPR1A","CACNA1A","CALR","CNTN2","CTNND2","EPCAM","FAN1","HLA-B","HLA-DRB1","IL12B","JAK2","KRAS","MARCHF6","MLH1","MLH3","MLX","MPL","MSH2","MSH6","P4HA2","PIK3CA","PMS1","PMS2","PRRT2","PTPN22","RPS20","SAMD12","SCN1A","SEMA4A","SH2B3","TET2","TGFBR2","TP53","YEATS2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LIPOATROPHY":{"collection":"C5:HPO","systematicName":"M38748","pmid":"","exactSource":"HP:0100578","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100578","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIPOATROPHY","geneSymbols":["ABCC9","ACTB","ACTC1","ACTN2","ADAR","ANKRD1","BAG3","BAG5","BANF1","CAP2","CLMP","COL3A1","CRYAB","CSRP3","DES","DMD","DOLK","DSG2","DSP","FBN1","FHL2","FKTN","FLNA","FUCA1","GATAD1","HAND2","IFIH1","JPH2","LAMA4","LDB3","LMNA","LMNB2","LMOD2","LSM11","MYBPC3","MYH6","MYH7","MYPN","NEXN","PDGFRB","PIK3CA","PIK3R1","PLIN1","PLN","POLR3A","PPARG","PPCS","PRDM16","PSEN1","PSEN2","RAF1","RBM20","RBM28","RNASEH2A","RNASEH2B","RNASEH2C","RNU7-1","RPL3L","SAMHD1","SCN5A","SDHA","SGCD","SLC25A24","TAF1A","TAFAZZIN","TCAP","TMPO","TNNC1","TNNI3","TNNT2","TPM1","TREX1","TTN","TXNRD2","VCL","VEZF1","WRN"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MUCOSAL_TELANGIECTASIAE":{"collection":"C5:HPO","systematicName":"M38749","pmid":"","exactSource":"HP:0100579","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100579","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MUCOSAL_TELANGIECTASIAE","geneSymbols":["ACVRL1","AKT1","ATM","CAV1","CCN2","CCR6","CTC1","CTSA","DDB2","ENG","ERCC2","ERCC3","ERCC4","ERCC5","GDF2","GLA","GNAQ","HLA-DRB1","IRF5","KIAA0319L","KLLN","LBR","LIG1","MASP1","NAGA","NBN","PCNA","PEX6","PIK3CA","PTEN","RNF168","SASH1","SDHB","SDHC","SDHD","SEC23B","SETX","SMAD4","USF3","XPA","XPC"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BARRETT_ESOPHAGUS":{"collection":"C5:HPO","systematicName":"M38750","pmid":"","exactSource":"HP:0100580","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100580","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BARRETT_ESOPHAGUS","geneSymbols":["ASCC1","CTHRC1","FH","MSR1","MYH11","RAD21"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ENDOCARDITIS":{"collection":"C5:HPO","systematicName":"M38751","pmid":"","exactSource":"HP:0100584","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100584","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ENDOCARDITIS","geneSymbols":["C4A","CCR1","ERAP1","FAS","GBA1","HLA-B","IFNGR1","IL10","IL12A","IL12A-AS1","IL23R","KLRC4","MEFV","PRKAR1A","STAT4","TLR4","UBAC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_TELANGIECTASIA_OF_THE_SKIN":{"collection":"C5:HPO","systematicName":"M38752","pmid":"","exactSource":"HP:0100585","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100585","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TELANGIECTASIA_OF_THE_SKIN","geneSymbols":["ABCC6","ACVRL1","ANTXR2","ARL6IP6","ARPC4","ARX","ATM","ATR","ATRX","BLM","CAST","CAV1","CCN2","CCR6","CIB1","COL3A1","CTC1","CYLD","DAXX","DDB2","DKC1","ELMO2","ENG","ENPP1","ERCC2","ERCC3","ERCC4","ERCC5","FERMT1","GDF2","GLA","GNA11","GNPTAB","GPR35","HLA-DRB1","IARS2","IKBKG","IL7","IRF5","KIAA0319L","KIT","LBR","LIG4","LMNA","MST1","NAGA","NF1","NHP2","NOP10","NPM1","PARN","PCNA","PIK3CA","POLD1","POLE","PORCN","RTEL1","SDHD","SEMA4D","SLC29A3","SLC2A10","SLC37A4","SMAD4","SOX18","TCF4","TERC","TERT","TINF2","TMC6","TMC8","TYMS","USB1","VPS53","WNT10A","WRAP53","WRN","XPA","XPC","XRCC4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_PREPUTIUM_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M38753","pmid":"","exactSource":"HP:0100587","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100587","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PREPUTIUM_MORPHOLOGY","geneSymbols":["APC2","AR","BRCA1","BRCA2","BRIP1","CENPT","CTCF","DKC1","ERCC4","ERMARD","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FERMT1","MAD2L2","MAMLD1","NSD1","PALB2","PQBP1","RAD51","RAD51C","RFWD3","SETD2","SIN3A","SLX4","UBE2T","XRCC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_UROGENITAL_FISTULA":{"collection":"C5:HPO","systematicName":"M38754","pmid":"","exactSource":"HP:0100589","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100589","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UROGENITAL_FISTULA","geneSymbols":["CAPN15","CCNQ","CD3G","CDK8","DACT1","DDB1","DLL3","DOCK2","DYNC2H1","DYNC2I1","DYNC2I2","ELF4","FGF20","FREM1","GFRA1","GREB1L","HES7","IFT80","IL10RB","ITGA8","JAK3","KDM6A","KIF7","KMT2D","LFNG","LONP1","MESP2","MID1","MKKS","MNX1","NCF4","OCRL","PI4KA","PIGN","PKP1","POLR1B","POLR1C","POLR1D","POR","RECQL4","RET","RIPPLY2","RNU12","SALL1","SALL4","SLC35A2","SPINT2","SYK","TCOF1","TCTN3","TGFB1","UBR1","WDR35","WNT9B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RECTAL_FISTULA":{"collection":"C5:HPO","systematicName":"M38755","pmid":"","exactSource":"HP:0100590","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100590","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECTAL_FISTULA","geneSymbols":["CCNQ","CDK8","DACT1","DDB1","DOCK2","FREM1","IL10RB","JAK3","KIF7","LONP1","MID1","MKKS","MNX1","PI4KA","PIGN","POLR1B","POLR1C","POLR1D","RECQL4","RNU12","SALL1","SALL4","SPINT2","TCOF1","TCTN3","UBR1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PERITONEAL_ABSCESS":{"collection":"C5:HPO","systematicName":"M38756","pmid":"","exactSource":"HP:0100592","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100592","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERITONEAL_ABSCESS","geneSymbols":["BRCA1","BRCA2","CDKN2A","KRAS","PALB2","PALLD","PI4KA","RABL3","SMAD4","TP53","TTC7A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CALCIFICATION_OF_CARTILAGE":{"collection":"C5:HPO","systematicName":"M38757","pmid":"","exactSource":"HP:0100593","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100593","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CALCIFICATION_OF_CARTILAGE","geneSymbols":["ABCC6","ANKH","DDR2","ENPP1","HGD","LBR","MGP","PEX2","PEX5","SLC26A2","TNFRSF11B","ZBTB20"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PULMONARY_EDEMA":{"collection":"C5:HPO","systematicName":"M38758","pmid":"","exactSource":"HP:0100598","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100598","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PULMONARY_EDEMA","geneSymbols":["ABCA3","CD46","CFH","CFI","EIF2AK4","EPHB4","FLNC","FOCAD","FSHR","HELLPAR","KIF20A","LRPPRC","MOGS","MT-CYB","MYBPC3","MYPN","NAA10","NKX2-6","PLXND1","PRKAG2","SFTPB","SFTPC","TNNI3","TNNT2","TTR"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NEOPLASM_OF_THE_LARYNX":{"collection":"C5:HPO","systematicName":"M38761","pmid":"","exactSource":"HP:0100605","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100605","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_LARYNX","geneSymbols":["CAT","CDKN2A","CHEK2","MDM2","MLH1","MSH2","MSH6","NLRP1","PORCN","RSPO1","TP53"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NEOPLASM_OF_THE_RESPIRATORY_SYSTEM":{"collection":"C5:HPO","systematicName":"M38762","pmid":"","exactSource":"HP:0100606","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100606","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_RESPIRATORY_SYSTEM","geneSymbols":["AAGAB","AKT1","APC2","BAP1","BRAF","BRCA2","CASP8","CAT","CDKN2A","CHEK2","COL14A1","COL4A5","COL4A6","CTNNB1","CYP2A6","DICER1","DIS3L2","EGFR","ERBB2","ERCC6","EWSR1","FASLG","GPC3","H19","HPGD","IFNG","IRF1","KEAP1","KRAS","LMNA","MAP3K8","MBTPS2","MDM2","MLH1","MSH2","MSH6","MST1R","MUC5B","NAB2","NDUFAF6","NLRP1","NOTCH3","NSD1","PDE11A","PDGFRB","PERP","PIK3CA","PORCN","POT1","POU6F2","PPP2R1B","PRKAR1A","PRKN","PTEN","RB1","RELA","REST","RSPO1","SETD2","SFTPA2","SFTPC","SLC22A18","SLCO2A1","SPRED1","STAT6","STK11","TERT","TP53","TRIM28","TRIP13","TRPV3","TSC1","TSC2","WRN","WT1","ZFTA","ZNRF3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DYSMENORRHEA":{"collection":"C5:HPO","systematicName":"M38763","pmid":"","exactSource":"HP:0100607","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100607","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DYSMENORRHEA","geneSymbols":["AIP","ANTXR1","CDKN1C","CYB5A","CYP17A1","GPR101","HMGA2","IGF2","LMNA","PHKA2","PHKB","PHKG2","PLAG1","PPARG"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_METRORRHAGIA":{"collection":"C5:HPO","systematicName":"M38764","pmid":"","exactSource":"HP:0100608","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100608","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_METRORRHAGIA","geneSymbols":["BCOR","F5","FIP1L1","FLI1","HPS5","IRF2BP2","NABP1","NPM1","NUMA1","PML","PRKAR1A","RARA","STAT3","STAT5B","TBL1XR1","ZBTB16"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MULTIPLE_GLOMERULAR_CYSTS":{"collection":"C5:HPO","systematicName":"M38765","pmid":"","exactSource":"HP:0100611","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100611","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MULTIPLE_GLOMERULAR_CYSTS","geneSymbols":["HNF1B","MT-ATP6","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND5","MT-ND6","MT-TK","MT-TL1","MT-TV","MT-TW","MYOCD","NPHP3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ODONTOGENIC_NEOPLASM":{"collection":"C5:HPO","systematicName":"M38766","pmid":"","exactSource":"HP:0100612","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100612","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ODONTOGENIC_NEOPLASM","geneSymbols":["APC","FGF3","HSPG2","OCRL","OFD1","PTCH1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MYOSITIS":{"collection":"C5:HPO","systematicName":"M38768","pmid":"","exactSource":"HP:0100614","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100614","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MYOSITIS","geneSymbols":["ADAR","C4A","CAPN3","CCR1","ERAP1","FAS","FOXP3","HLA-B","HNRNPA2B1","IFIH1","IFNGR1","IL10","IL12A","IL12A-AS1","IL23R","IRAK1","IRF4","KLRC4","LAMA2","LPIN1","LSM11","MEFV","MT-CO1","MT-CO3","OBSCN","PSMB4","PSMB9","PSMG2","PSTPIP1","RNASEH2A","RNASEH2B","RNASEH2C","RNU7-1","SAMHD1","SAT1","SPP1","STAT4","STING1","TLR4","TNFRSF1A","TREX1","UBAC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_OVARIAN_NEOPLASM":{"collection":"C5:HPO","systematicName":"M38769","pmid":"","exactSource":"HP:0100615","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100615","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OVARIAN_NEOPLASM","geneSymbols":["AKT1","BARD1","BMPR1A","BRCA1","BRCA2","BRIP1","CDH1","CDKN2A","CHEK2","CTNNB1","DHH","DHX37","DICER1","DMRT3","EPCAM","ERBB2","EWSR1","FAN1","FGFR2","FLI1","FOXE1","GATA4","IDH1","IDH2","KEAP1","KRAS","LMNA","MAP3K1","MBD4","MDM2","MLH1","MLH3","MRE11","MSH2","MSH3","MSH6","NBN","NR0B1","NR5A1","OPCML","PALB2","PALLD","PDE11A","PIK3CA","PMS1","PMS2","PRKAR1A","PRKN","PTCH1","PTEN","RABL3","RAD50","RAD51","RAD51C","RAD51D","RELA","RNF43","RPS20","SEMA4A","SMAD4","SOX9","SPRED1","SRY","STAG3","TGFBR2","TP53","VAMP7","WNT10A","WRN","WT1","WWOX","ZFPM2","ZFTA"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SERTOLI_CELL_NEOPLASM":{"collection":"C5:HPO","systematicName":"M46396","pmid":"","exactSource":"HP:0100619","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100619","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SERTOLI_CELL_NEOPLASM","geneSymbols":["DICER1","KEAP1","PDE11A","PRKAR1A","STK11"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_GERMINOMA":{"collection":"C5:HPO","systematicName":"M38771","pmid":"","exactSource":"HP:0100620","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100620","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GERMINOMA","geneSymbols":["AKT1","CDH1","CTNNB1","DHH","DICER1","ERBB2","FGFR2","IGF2","KEAP1","MAP3K1","OPCML","PIK3CA","PRKN","STS"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DYSGERMINOMA":{"collection":"C5:HPO","systematicName":"M38772","pmid":"","exactSource":"HP:0100621","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100621","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DYSGERMINOMA","geneSymbols":["AKT1","CDH1","CTNNB1","DHH","ERBB2","FGFR2","MAP3K1","OPCML","PIK3CA","PRKN"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ENLARGED_THORAX":{"collection":"C5:HPO","systematicName":"M38773","pmid":"","exactSource":"HP:0100625","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100625","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ENLARGED_THORAX","geneSymbols":["ACAN","ACP5","BCOR","BMP1","BMPER","BRAF","CBL","CCDC8","CHST3","CILK1","COL13A1","COL2A1","CUL7","DYM","EIF2AK3","FBN1","FUCA1","GATA4","GPKOW","GUSB","HRAS","IDH1","INTU","KAT6A","KDELR2","KRAS","LBR","LMNA","LRP5","LZTR1","MAP2K1","MAPK1","MRAS","MYH3","NAA10","NRAS","OBSL1","P3H1","PCGF2","POP1","PRKACA","PRKACB","PTPN11","RAB33B","RAB5IF","RAF1","RASA2","RIT1","RMRP","RRAS","RRAS2","SOS1","SOS2","SPRED2","SRCAP","TNFRSF11B","TRAPPC2","TRIP11","TRPV4","VPS33A","WNT4","WNT7A","XYLT2","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CHRONIC_HEPATIC_FAILURE":{"collection":"C5:HPO","systematicName":"M38774","pmid":"","exactSource":"HP:0100626","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100626","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHRONIC_HEPATIC_FAILURE","geneSymbols":["ALDOB","BMP6","CC2D2A","GPR35","HADHA","HADHB","HFE","INPP5E","MST1","RPGRIP1L","SEMA4D","SP110","TCF4","TMEM67"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DISPLACEMENT_OF_THE_URETHRAL_MEATUS":{"collection":"C5:HPO","systematicName":"M47336","pmid":"","exactSource":"HP:0100627","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100627","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DISPLACEMENT_OF_THE_URETHRAL_MEATUS","geneSymbols":["ABL1","ACTA1","ADA2","ADAT3","AFF4","ALG12","ANKRD11","APC2","AR","ARCN1","ARID1A","ARID1B","ARID2","ARL6IP6","ARVCF","ARX","ATP6AP2","ATR","ATRX","B3GLCT","B9D2","BCOR","BDNF","BICRA","BRAF","BRCA1","BRCA2","BRD4","BRIP1","BUB1B","C2CD3","CARS1","CASZ1","CCDC22","CCDC8","CDC42","CDC42BPB","CDC45","CDC6","CDCA7","CDH11","CDKN1C","CDT1","CEP152","CHRNA3","CHRNG","CILK1","CLMP","COG1","COL3A1","COLEC10","COLEC11","COMT","COX7B","CPLX1","CREBBP","CSPP1","CTBP1","CTC1","CUL4B","CUL7","CUX1","CYB5A","CYP11A1","CYP17A1","CYP21A2","DACT1","DCHS1","DHCR7","DHX37","DKC1","DLL3","DMRT3","DNAJC19","DPF2","DPP9","DPYSL5","DVL1","DVL3","DYNC2LI1","DYRK1A","EFNB1","EHMT1","EP300","EPG5","ERCC4","ERMARD","ESCO2","EVC","EVC2","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FAT4","FBXL4","FDFT1","FGFR1","FGFR2","FGFRL1","FIG4","FLNA","FOCAD","FOXC1","FOXF1","FRAS1","FREM2","FZD2","GABRD","GATA1","GATA4","GATAD2B","GLI1","GLI3","GMNN","GNA11","GP1BB","GPC3","GPC4","GRB10","GRIP1","H4C11","HBA1","HBA2","HCCS","HDAC8","HEATR3","HES7","HIRA","HMGA2","HNF1B","HNRNPH1","HOXA13","HOXD13","HSD3B2","HSPG2","HUWE1","HYLS1","IGF2","ISL1","JMJD1C","KANSL1","KAT5","KAT6B","KCNAB2","KDM1A","KDM3B","KDM5B","KDM6A","KIAA0586","KIAA0753","KIF7","KIFBP","KLF1","KLHL40","KLHL41","KMT2D","KRAS","LETM1","LFNG","LIG4","LMNA","LMOD3","LRPPRC","LSS","LUZP1","MAB21L2","MAD2L2","MAMLD1","MAP2K1","MAP3K1","MAPRE2","MBTPS2","MCTP2","MECP2","MED12","MED12L","MED25","MESP2","MID1","MKKS","MMP23B","MNX1","MTM1","MTOR","MYMK","MYMX","MYRF","NAA10","NDUFA6","NDUFA8","NDUFB11","NDUFB7","NDUFS4","NEB","NELFA","NHP2","NIPBL","NKX2-1","NOP10","NOTCH2","NPM1","NR0B1","NR5A1","NSD1","NSD2","NSUN2","OBSL1","OGT","ORC1","ORC4","ORC6","OTUD5","PAICS","PALB2","PARN","PAX6","PCNT","PDE4D","PDPN","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PIEZO2","PIGG","PIGN","PITX2","PLAG1","PNPLA6","POLE","POLR3A","POR","PPP1R12A","PQBP1","PRDM16","PRKACA","PRKACB","PRKCZ","PRPS1","PSMD12","PSPH","PTDSS1","PTPN11","PUF60","RAC1","RAD21","RAD51","RAD51C","RAF1","RBBP8","RERE","RFWD3","RIPPLY2","RLIM","RNU12","RPL10","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS7","RREB1","RSPO1","RTEL1","RTTN","SALL1","SAMD9","SCUBE3","SEC24C","SETBP1","SETD2","SETD5","SIAH1","SIN3A","SIX6","SKI","SKIC3","SLC25A10","SLC31A1","SLX4","SMAD4","SMARCA2","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SMC1A","SMC3","SMCHD1","SMG8","SMS","SOX11","SOX2","SOX4","SOX9","SPEN","SPTBN1","SRCAP","SRD5A2","SRY","SSR4","STAR","SUCLG1","SYNGAP1","TAPT1","TBX1","TBX22","TCF12","TERC","TERT","TFAP2A","THOC6","TINF2","TMEM63A","TMEM70","TMEM94","TONSL","TP63","TRIM8","TSR2","TTC8","TUBB","TYMS","UBA1","UBE2A","UBE2T","UBE4B","UBR1","UFD1","USB1","USP9X","VAC14","VAMP7","VPS35L","WASHC5","WDR35","WNT4","WNT5A","WNT7A","WRAP53","WT1","WWOX","XRCC2","ZEB2","ZFPM2","ZMIZ1","ZMPSTE24","ZMYM2","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NEOPLASIA_OF_THE_NASOPHARYNX":{"collection":"C5:HPO","systematicName":"M46397","pmid":"","exactSource":"HP:0100630","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100630","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASIA_OF_THE_NASOPHARYNX","geneSymbols":["MST1R","PDE11A","PRKAR1A","STK11","TP53"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NEOPLASM_OF_THE_ADRENAL_GLAND":{"collection":"C5:HPO","systematicName":"M38776","pmid":"","exactSource":"HP:0100631","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100631","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_ADRENAL_GLAND","geneSymbols":["APC","CACNA1S","CCND1","CDKN1A","CDKN1B","CDKN1C","CDKN2A","CDKN2B","CDKN2C","CHEK2","CLCN2","CTNNB1","CYP11B1","CYP11B2","DLST","DNMT3A","EPAS1","FH","IDH1","IDH2","IGF2","KCNE3","KCNQ1","KCNQ1OT1","KIF1B","MAX","MDH2","MDM2","MEN1","NF1","PRKAR1A","PTEN","RET","SCN4A","SDHA","SDHAF2","SDHB","SDHC","SDHD","SLC25A11","TERT","TMEM127","TP53","VHL","YY1","ZNRF3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ESOPHAGITIS":{"collection":"C5:HPO","systematicName":"M38777","pmid":"","exactSource":"HP:0100633","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100633","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ESOPHAGITIS","geneSymbols":["ADAMTS2","ADAMTSL2","ATAD1","ATP7A","CARD8","CARMIL2","CDKN1B","DOCK8","DSG1","ELF4","FERMT1","GLRA1","GLRB","GPHN","GRB10","IARS1","LMX1B","MEN1","MYH11","PGM3","PHGDH","PSPH","REL","RPL11","SLC2A10","SLC6A5","SMAD3","STXBP1","TCF4","TGFB1","TGFB2","TGFB3","TGFBR1","TGFBR2","TRAPPC11"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NEUROENDOCRINE_NEOPLASM":{"collection":"C5:HPO","systematicName":"M38778","pmid":"","exactSource":"HP:0100634","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100634","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEUROENDOCRINE_NEOPLASM","geneSymbols":["APC","ARMC5","ATRX","CCND1","CDKN1A","CDKN1B","CDKN2B","CDKN2C","DAXX","DLST","DNMT3A","EPAS1","FH","GCGR","GNAS","HRAS","IFNG","KCNJ11","KIF1B","LMNA","MAFA","MAX","MDH2","MEN1","NF1","PRKAR1A","RET","SDHA","SDHAF2","SDHB","SDHC","SDHD","SLC25A11","TMEM127","TSC1","TSC2","VHL","YY1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ERECTILE_DYSFUNCTION":{"collection":"C5:HPO","systematicName":"M43583","pmid":"","exactSource":"HP:0100639","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100639","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ERECTILE_DYSFUNCTION","geneSymbols":["ABCD1","AIP","AKT1","ANOS1","AR","ATXN8OS","BAP1","BMP2","BMP6","CACNA1G","CCDC141","CDH23","CDKN1A","CDKN1B","CDKN2B","CDKN2C","CHD7","COQ2","DCC","DUSP6","FEZF1","FGF17","FGF8","FGFR1","FLRT3","FMR1","GALC","GNRH1","GNRHR","GPR101","GUCY1A1","HAMP","HBB","HESX1","HEXB","HFE","HJV","HS6ST1","IL17RD","IRF4","KISS1","KISS1R","LMNB1","MEN1","NDNF","NDP","NF2","NHLH2","NSMF","PDGFB","PIGA","PIK3CA","PROK2","PROKR2","SACS","SEMA3A","SLC40A1","SMARCB1","SMARCE1","SMO","SOX10","SPRY4","SUFU","TAC3","TACR3","TERT","TFR2","TRAF7","TTR","WDR11"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NEOPLASM_OF_THE_ADRENAL_CORTEX":{"collection":"C5:HPO","systematicName":"M38780","pmid":"","exactSource":"HP:0100641","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100641","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_ADRENAL_CORTEX","geneSymbols":["APC","CACNA1S","CDKN1A","CDKN1B","CDKN1C","CDKN2A","CDKN2B","CDKN2C","CHEK2","CLCN2","CTNNB1","CYP11B1","CYP11B2","IDH1","IDH2","IGF2","KCNE3","KCNQ1","KCNQ1OT1","MDM2","MEN1","PRKAR1A","PTEN","SCN4A","TERT","TP53","ZNRF3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_NAIL_COLOR":{"collection":"C5:HPO","systematicName":"M38781","pmid":"","exactSource":"HP:0100643","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100643","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_NAIL_COLOR","geneSymbols":["ABCA12","ATP2A2","ATR","CAST","DSC3","DSG1","DSP","FOXC2","GJA1","GJB2","KANK2","KIF11","PEX1","PEX6","PLCD1","RNU4ATAC","STK11","TRPS1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_THYROIDITIS":{"collection":"C5:HPO","systematicName":"M38782","pmid":"","exactSource":"HP:0100646","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100646","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THYROIDITIS","geneSymbols":["ADA","ADA2","AKT1","C1S","CASP10","CDKN1B","CHD7","CLCNKB","CTLA4","DCLRE1C","FAS","FASLG","FOXD3","FOXP3","GPR35","HLA-DQA1","HLA-DQB1","IL18BP","IL2RA","IL2RG","IL7R","ITCH","LIG4","LRBA","MST1","NFKB2","NLRP1","PI4KA","PIK3CA","PLCG2","POLG","PRKCD","PTEN","RAG1","RAG2","RASGRP1","RMRP","SEC23B","SEMA4D","SLC12A3","SLC37A4","SOCS1","STAT1","STAT5B","TBX2","TCF4","TG","TOM1","TTC7A","ZFAT"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_GRAVES_DISEASE":{"collection":"C5:HPO","systematicName":"M38783","pmid":"","exactSource":"HP:0100647","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100647","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GRAVES_DISEASE","geneSymbols":["CACNA1S","CLCNKB","GABRA3","KCNJ18","SLC12A3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NEOPLASM_OF_THE_TONGUE":{"collection":"C5:HPO","systematicName":"M38784","pmid":"","exactSource":"HP:0100648","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100648","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_TONGUE","geneSymbols":["AKT1","BAP1","C2CD3","CASP10","CEP120","CPLANE1","DDX59","DYNC2H1","EDN1","FAM149B1","FAS","FASLG","GJB2","GJB6","GNAI3","INTU","KAT6B","KIAA0586","KIAA0753","KIF7","MAN2C1","MDM4","NEK1","NF2","OFD1","PDE6D","PDGFB","PIK3CA","PLCB4","PRKCD","RASGRP1","SMARCB1","SMARCE1","SMO","SUFU","TCTN3","TERT","TMEM107","TMEM216","TMEM231","TOPORS","TRAF7","WDPCP","WRAP53"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NEOPLASM_OF_THE_ORAL_CAVITY":{"collection":"C5:HPO","systematicName":"M38785","pmid":"","exactSource":"HP:0100649","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100649","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_ORAL_CAVITY","geneSymbols":["AKT1","APC","BAP1","C2CD3","CASP10","CEP120","CPLANE1","DDX59","DYNC2H1","EDN1","FAM149B1","FAS","FASLG","FGF3","GJB2","GJB6","GNAI3","HSPG2","INTU","KAT6B","KIAA0586","KIAA0753","KIF7","LMNA","MAN2C1","MDM4","MLH1","MSH2","MSH6","MYC","NEK1","NF2","OCRL","OFD1","PDE6D","PDGFB","PIK3CA","PLAG1","PLCB4","PRKAR1A","PRKCD","PTCH1","RASGRP1","RSPRY1","SMARCB1","SMARCE1","SMO","SUFU","TCTN3","TERT","TMEM107","TMEM216","TMEM231","TOPORS","TRAF7","WDPCP","WRAP53","WRN"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_VAGINAL_NEOPLASM":{"collection":"C5:HPO","systematicName":"M38786","pmid":"","exactSource":"HP:0100650","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100650","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VAGINAL_NEOPLASM","geneSymbols":["BUB1","BUB1B","BUB3","CEP57","COL4A5","COL4A6","FH","NAB2","STAT6","TRIP13"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_TYPE_I_DIABETES_MELLITUS":{"collection":"C5:HPO","systematicName":"M38787","pmid":"","exactSource":"HP:0100651","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100651","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TYPE_I_DIABETES_MELLITUS","geneSymbols":["ABCC8","ADA2","AIRE","CAT","CAV1","CLCNKB","CNOT1","CORIN","CTLA4","DMXL2","DNAJC3","DNASE2","DUT","EDA","EDA2R","EIF2AK3","FLT1","FOXP3","GCK","GFM2","GOSR2","GPR35","HLA-DQA1","HLA-DQB1","HNF1A","IL18BP","IL2RA","INS","ITCH","KCNJ11","KCTD1","LRBA","MIA3","MMP14","MMP2","MST1","MT-CO1","MT-CO2","MT-CO3","MT-ND1","MT-ND4","MT-ND5","MT-ND6","MT-TE","MT-TF","MT-TH","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TW","NAF1","NEUROG3","PI4KA","PSTPIP1","SEMA4D","SLC12A3","SLC29A3","SLC37A4","SPI1","STAT1","STAT3","STOX1","STUB1","TCF4","TKT","TLR8","TOM1","TTC7A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RETROBULBAR_OPTIC_NEURITIS":{"collection":"C5:HPO","systematicName":"M46398","pmid":"","exactSource":"HP:0100654","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100654","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETROBULBAR_OPTIC_NEURITIS","geneSymbols":["C4A","CCR1","ERAP1","FAS","HLA-B","IFNGR1","IL10","IL12A","IL12A-AS1","IL23R","KLRC4","MEFV","NLRP3","NOD2","PRORP","STAT4","TLR4","UBAC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CELLULITIS":{"collection":"C5:HPO","systematicName":"M38789","pmid":"","exactSource":"HP:0100658","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100658","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CELLULITIS","geneSymbols":["AEBP1","AGGF1","ANGPT2","ARPC1B","BLNK","BTK","CD79A","CD79B","CLPB","COL1A1","CXCR4","CYBA","CYBB","ELANE","EPHB4","FLT4","FOXC2","GATA2","GFI1","GJC2","IGHM","IGLL1","IL2RA","IL6R","IL6ST","KIF11","LMNA","LRRC8A","MPEG1","NCF1","NCF2","PHEX","PIEZO1","PIK3CD","PIK3R1","PLCG2","PSTPIP1","RAC2","SHANK3","SLC35A1","SLC35C1","SLC39A7","SPI1","SRP19","SRP54","STAT3","TCF3","TCIRG1","TNFRSF1A","VEGFC"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CEREBRAL_VASCULAR_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M38790","pmid":"","exactSource":"HP:0100659","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100659","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CEREBRAL_VASCULAR_MORPHOLOGY","geneSymbols":["ABCC6","ABCG5","ABCG8","ACAD9","ACTA1","ACTA2","ACTB","ACTC1","ACTG1","ACVRL1","ADA2","ADAMTS13","ADAR","AGXT","AIRE","AKT1","ALDH18A1","ALG2","ALG5","ALG9","ALOX5AP","ALPL","ALX4","AMACR","ANGPTL6","ANTXR1","APOB","APP","ASS1","ASXL2","ATP2B1","ATP7A","ATRX","B3GALT6","BAP1","BAZ1B","BCL7B","BGN","BICC1","BICD2","BRAF","BRCC3","BUD23","CACNA1D","CALR","CBS","CCDC8","CCM2","CCND1","CD109","CD46","CDH23","CFH","CFI","CHMP2B","CITED2","CLCN2","CLCN3","CLIP2","COL1A1","COL3A1","COL4A1","COL4A2","COL5A1","COL5A2","COLGALT1","CPS1","CPT2","CST3","CUL7","CYP11B1","CYP11B2","CYP26C1","DCX","DHPS","DIAPH1","DLST","DNAJB11","DNAJC30","DNM2","DNMT3A","DOCK8","DPAGT1","DPM3","DYRK1B","EDN1","EIF4H","ELN","ENG","ENPP1","EPAS1","EPHB4","EPOR","ERCC6","ERCC8","EXT2","F10","F13A1","F13B","F2","F5","F7","F8","FARSB","FBN1","FCGR2C","FGA","FGB","FGG","FH","FHOD3","FKBP6","FLNA","FLNC","FN1","FOXE3","GAA","GANAB","GATA2","GATA4","GATA6","GBA1","GCDH","GDF2","GGCX","GLA","GNAI3","GNAQ","GNB2","GP1BA","GP1BB","GRN","GTF2I","GTF2IRD1","GTF2IRD2","GUCY1A1","GYS1","H3-3A","H4C9","HADHB","HBB","HELLPAR","HES7","HEY2","HSD11B2","HTRA1","IFIH1","IFT140","IKBKG","IL6","IPO8","ITGA2","ITGA2B","ITGB3","IVD","JAG1","JAK2","KANSL1","KCNJ5","KIF1B","KIF20A","KMT5B","KRAS","KRIT1","LDLR","LDLRAP1","LIG3","LIMK1","LMAN1","LMBRD1","LMNA","LMOD2","LOX","LRPPRC","LSM11","MAPT","MARS2","MAT2A","MAX","MCCC1","MCCC2","MCFD2","MDH2","MECP2","METTL27","MFAP5","MLXIPL","MMACHC","MMUT","MPL","MSX2","MT-CO1","MT-CO2","MT-CO3","MT-CYB","MT-ND1","MT-ND4","MT-ND5","MT-ND6","MT-TC","MT-TF","MT-TH","MT-TK","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TV","MT-TW","MTHFR","MYBPC3","MYD88","MYH11","MYH6","MYLK","MYPN","NAGA","NAGS","NCF1","NDE1","NDUFA8","NF1","NF2","NFIA","NGLY1","NKX2-5","NOS3","NOTCH3","NPPA","NR3C1","OBSL1","ODC1","OTC","PAFAH1B1","PCCA","PCCB","PCNT","PCSK9","PDCD10","PDE11A","PDGFB","PDGFRB","PET100","PIGA","PIK3C2A","PIK3CA","PKD1","PKD2","PLCB4","PLIN1","PLOD3","PLXNA1","PMM2","PNP","POLR3F","PRKAR1A","PRKCH","PRKCSH","PRKG1","PRNP","PROC","PROS1","PSEN1","PTEN","RASA1","RBM10","RET","RFC2","RFT1","RIN2","RNASEH2A","RNASEH2B","RNASEH2C","RNF168","RNF213","RNU7-1","RPL10","SAMD9","SAMHD1","SCN5A","SDHA","SDHAF2","SDHB","SDHC","SDHD","SERPINE1","SERPINF2","SH2B3","SIAH1","SIN3A","SLC19A2","SLC20A2","SLC25A11","SLC2A10","SMAD2","SMAD3","SMAD4","SMARCAL1","SMARCB1","SMARCE1","SMO","SNAP29","SNORD118","SON","SPARC","SPTBN1","STAT1","STAT2","STIM1","STT3A","STX1A","SUFU","TANGO2","TBL2","TBX20","TERT","TET2","TGFB2","TGFB3","TGFBR1","TGFBR2","TGFBR3","THPO","THSD1","THSD4","TLL1","TMEM106B","TMEM127","TMEM237","TMEM270","TNNI3","TNNT2","TNXB","TOM1","TONSL","TP53","TPP2","TRAF7","TREM2","TREX1","TRPV6","TTR","USP18","USP48","USP8","VCP","VHL","VPS37D","WAS","WFS1","WIPF1","WRN","XYLT1","XYLT2","ZAP70","ZMPSTE24","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DYSKINESIA":{"collection":"C5:HPO","systematicName":"M38791","pmid":"","exactSource":"HP:0100660","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100660","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DYSKINESIA","geneSymbols":["AARS1","ACAT1","ACTL6B","ADCY5","AGA","AP3B2","ARV1","ARX","ATG7","ATP13A2","ATP1A2","ATP1A3","ATP6V1A","ATXN10","ATXN7","B4GALNT1","BCAS3","BMPR1A","C9orf72","CACNA1A","CACNA1B","CACNA2D1","CAMK2B","CASK","CDK19","CDKL5","CELF2","CHKA","CHMP2B","CLTC","CNKSR2","COQ2","COX11","CUX2","CYFIP2","CYP27A1","DALRD3","DDX3X","DEAF1","DHDDS","DMXL2","DNAJC13","DNAJC19","DNAJC6","DNM1","DPYS","EEF1A2","EIF4G1","EPCAM","EXOSC5","FAN1","FASTKD2","FBXO28","FGF12","FGF13","FGF14","FOXG1","FTL","FZR1","GABBR2","GABRA2","GABRA5","GABRB2","GABRB3","GABRG2","GBA1","GBA2","GIGYF2","GNAO1","GNAS","GRIN1","GRIN2B","GRIN2D","GRM7","HCN1","HECW2","HTRA2","INPP5K","IREB2","JAM2","KCNA1","KCNA2","KCNB1","KCNN2","KNSTRN","KRAS","LRPPRC","LRRK2","MDH2","MECR","MICU1","MLH1","MLH3","MRE11","MRM2","MSH2","MSH6","MT-ATP6","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND5","MT-ND6","MT-TK","MT-TL1","MT-TV","MT-TW","NALCN","NDUFA13","NDUFS4","NDUFS8","NECAP1","NEUROD2","NMNAT1","NTRK2","NUS1","PACS2","PANK2","PARK7","PARS2","PDE10A","PDGFB","PGAP1","PIGP","PIGQ","PIK3CA","PIK3CD","PINK1","PLA2G6","PLP1","PMS1","PMS2","PNKD","PNKP","PNPT1","PODXL","POLR3K","PPP3CA","PRKN","PRKRA","PRRT2","PURA","RAB39B","RPS20","SCN1B","SCN2A","SCN3A","SCN8A","SEMA4A","SIK1","SIL1","SLC13A5","SLC16A2","SLC18A2","SLC1A2","SLC25A10","SLC25A22","SLC2A1","SLC30A9","SLC32A1","SLC35A1","SLC38A3","SLC39A14","SLC46A1","SLC6A3","SNCA","SQSTM1","STX16","STXBP1","SUOX","SYNGAP1","SYNJ1","SYT1","SZT2","TGFBR2","TMEM43","TRAK1","TRIM8","TSEN2","TSEN54","UBA5","UCHL1","UNC80","VPS13A","VPS13C","VPS35","WARS2","WIPI2","WWOX","XK","YIF1B","YWHAG"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ANGIOEDEMA":{"collection":"C5:HPO","systematicName":"M38793","pmid":"","exactSource":"HP:0100665","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100665","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANGIOEDEMA","geneSymbols":["ANGPT1","CPN1","DNASE1L3","F12","HS3ST6","KIT","KNG1","MYOF","PLCG2","PLG","SERPING1","SPINK5","XPNPEP2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_PIGMENTATION_OF_THE_ORAL_MUCOSA":{"collection":"C5:HPO","systematicName":"M41622","pmid":"","exactSource":"HP:0100669","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100669","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PIGMENTATION_OF_THE_ORAL_MUCOSA","geneSymbols":["ABCC6","ABCD1","ATRX","BANK1","BLK","BRAF","C4A","C4B","CDH23","CR2","CTLA4","DNASE1","ETS1","FCGR2B","FCGR3B","HLA-DRB1","IGHG1","IL10","IRAK1","IRF5","ITGAM","JAZF1","KIAA0319L","KRT14","MECP2","MTX2","NR3C1","PDCD1","PTPN22","PXK","SPP1","STAT4","STK11","TLR7","TNFAIP3","TNFSF4","TNIP1","TP53","TREX1","UBE2L3","USP48","USP8","XYLT1","XYLT2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_TRABECULAR_BONE_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M38795","pmid":"","exactSource":"HP:0100671","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100671","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_TRABECULAR_BONE_MORPHOLOGY","geneSymbols":["AMER1","ANAPC1","CLCN5","CTC1","CYP27B1","CYP2R1","DKC1","DMP1","ENPP1","NHP2","NOP10","NOTCH2","NPM1","PARN","PLCB3","PORCN","PTH1R","RECQL4","RTEL1","SLC29A3","SLC34A3","TCIRG1","TERC","TERT","TINF2","TNFRSF11A","TNFRSF11B","TRPV4","TYMS","USB1","VDR","WRAP53"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PREMATURE_SKIN_WRINKLING":{"collection":"C5:HPO","systematicName":"M38796","pmid":"","exactSource":"HP:0100678","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100678","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PREMATURE_SKIN_WRINKLING","geneSymbols":["ABCC6","ACD","ADAMTS2","ADAMTSL2","ALDH18A1","ALG8","AP2M1","ATP6V0A2","ATP6V1A","ATP6V1E1","BRAF","C1R","CAV1","CDH11","CFTR","CHD2","COG5","COG7","COL3A1","CSTA","DKC1","EDA","EDAR","EDARADD","ELN","ENPP1","FBLN5","FGFR2","FGFR3","GORAB","H4C5","KCNJ6","KRAS","LIFR","LMNA","LZTR1","MAP2K1","MAP2K2","MED12","MRAS","MRPS2","NAA10","NEXMIF","PARN","PIK3R1","PLOD1","POLR3A","PTEN","PTPN11","PYCR1","RAF1","RIT1","RTEL1","SCN1A","SLC25A24","SLC2A1","SLC6A1","SMARCA2","SYNGAP1","TALDO1","TBL1XR1","TERT","TGM5","TINF2","TOR1A","TWIST2","ZMPSTE24","ZNF469"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LACK_OF_SKIN_ELASTICITY":{"collection":"C5:HPO","systematicName":"M38797","pmid":"","exactSource":"HP:0100679","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100679","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LACK_OF_SKIN_ELASTICITY","geneSymbols":["ABCA12","ABCC6","ADAMTSL2","AIP","ALOX12B","ALOXE3","ARMC5","ASPRV1","ATRX","BGN","BRAF","CDH23","CDKN2A","COL1A1","COL5A1","COL5A2","COPB1","CTNNB1","CUL4B","CYP4F22","DLG4","EFEMP2","ENPP1","FBLN5","FBN1","GNAS","HRAS","IPO8","LIPN","LMNA","LOX","LSS","LTBP1","NIPAL4","NR3C1","PAH","PDE11A","POLD1","PRKAR1A","PYCR1","SDR9C7","SMAD2","SMAD3","SMARCAD1","SPEN","SULT2B1","TERT","TGFB2","TGFBR1","TGFBR2","TGM1","TNXB","TP53","USP48","USP8","WRN","ZMPSTE24","ZNRF3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_SHARPEY_FIBER_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M38798","pmid":"","exactSource":"HP:0100685","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100685","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SHARPEY_FIBER_MORPHOLOGY","geneSymbols":["ALPL","ANKH","ANKRD55","AP2S1","ATP7A","ATP7B","CD247","CDC73","CLCNKB","DMP1","ENPP1","FXYD2","GCM2","GNA11","HLA-B","HYAL1","IL2RA","IL2RB","KCNJ1","LMNA","MEFV","MEN1","NOTCH3","PDGFRB","PHEX","PTPN2","PTPN22","SLC12A1","SLC12A3","STAT4","TNFRSF11B","TNFRSF1A","WRN"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ENTHESITIS":{"collection":"C5:HPO","systematicName":"M43584","pmid":"","exactSource":"HP:0100686","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100686","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ENTHESITIS","geneSymbols":["ANKRD55","CD247","DMP1","ENPP1","HLA-B","IL2RA","IL2RB","PHEX","PTPN2","PTPN22","STAT4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_CURVATURE_OF_THE_CORNEA":{"collection":"C5:HPO","systematicName":"M38799","pmid":"","exactSource":"HP:0100691","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100691","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_CURVATURE_OF_THE_CORNEA","geneSymbols":["AARS1","ABCA4","ADNP","AEBP1","AGBL5","AHI1","AHR","AIPL1","ALDH3A2","ANKRD11","ANTXR1","AP1B1","AP3D1","APC2","ARCN1","ARHGEF18","ARHGEF2","ARID1B","ARL2BP","ARL3","ARL6","ARPC4","ARSG","ASH1L","BAP1","BAZ1B","BBS1","BBS2","BBS9","BCL7B","BEST1","BLOC1S3","BRCA1","BRCA2","BRIP1","BUD23","C1QBP","CA4","CACNA1F","CAMK2B","CAMSAP1","CAMTA1","CARS1","CC2D2A","CCDC28B","CCDC47","CDHR1","CEP290","CEP78","CERKL","CFAP418","CHD3","CHD4","CHMP1A","CHRDL1","CHST14","CHST6","CLDN11","CLDN16","CLDN19","CLIP2","CLRN1","CNGA1","CNGA3","CNGB1","COL17A1","COL1A2","COL25A1","COL3A1","COL4A1","COL8A2","COL9A1","COL9A2","COL9A3","CRB1","CRX","DHDDS","DHX38","DNAJC21","DNAJC30","DPAGT1","DPYD","DSE","DYRK1A","EBF3","EDEM3","EIF4H","ELN","EMC1","ERCC2","ERCC3","ERCC4","EXOSC5","EYS","FAM161A","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FBN1","FBXW7","FIBP","FKBP6","FLNA","FSCN2","GALNT2","GATAD2B","GDF6","GLRB","GNB5","GNPTAB","GPR143","GRHL2","GRIA1","GTF2E2","GTF2H5","GTF2I","GTF2IRD1","GTF2IRD2","GUCA1B","GUCY2D","H1-4","HARS1","HDAC4","HGSNAT","HK1","HRAS","IDH3A","IDH3B","IFT140","IFT172","IFT88","IMPDH1","IMPG1","IMPG2","INTS1","IQCB1","KAT6A","KCNJ13","KCNV2","KDM5B","KERA","KIAA1549","KIDINS220","KIF11","KIZ","KLHL7","KMT2B","KRAS","LCA5","LIG4","LIMK1","LMBRD2","LMX1B","LRAT","MAD2L2","MAG","MAK","MAN2B1","MAP3K7","MAPK8IP3","MARK3","MBD5","MBTPS2","MERTK","METTL27","MIR184","MLXIPL","MPLKIP","MT-TS2","MYO1H","NCF1","NEK2","NEUROD2","NFIX","NIPBL","NMNAT1","NOG","NR2E3","NR2F1","NRL","NSD1","OFD1","OTUD5","OVOL2","P4HTM","PACS2","PALB2","PAX2","PBX1","PCARE","PCYT1A","PDE6A","PDE6B","PDE6G","PDZD8","PIEZO2","PIGQ","PIGT","PIK3R1","PITX2","PLOD1","POGZ","POLR3GL","POMGNT1","PPP1R12A","PPP2R5D","PRCD","PRDM5","PRKAR1B","PRMT7","PROM1","PRPF3","PRPF31","PRPF4","PRPF6","PRPF8","PRPH2","RAD51","RAD51C","RBP3","RD3","RDH12","RECQL4","REEP6","RERE","RFC2","RFWD3","RGR","RHO","RHOA","RLBP1","RNF113A","RNF2","RNU4ATAC","ROBO3","ROM1","RP1","RP1L1","RP2","RP9","RPE65","RPGR","RPGRIP1","SAG","SCAPER","SCUBE3","SEMA4A","SETBP1","SETD2","SETD5","SHOC2","SLC25A24","SLC2A10","SLC38A8","SLC39A8","SLC4A11","SLC7A14","SLX4","SMARCAL1","SMG8","SNRNP200","SPATA7","STX1A","STXBP1","TARS1","TBC1D2B","TBC1D7","TBCE","TBL2","TCEAL1","TCF4","TEAD1","TFE3","TGFB2","TGFBI","TMEM270","TNPO2","TOPORS","TRIM37","TTC8","TUB","TUBA3D","TUBB4B","TULP1","TYR","UBE2T","UBE3B","USH2A","USP45","USP9X","VARS1","VPS37D","VSX1","WAC","XRCC2","YY1","ZBTB7A","ZEB1","ZEB2","ZFHX4","ZMIZ1","ZNF408","ZNF469","ZNF513"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_IRIDODONESIS":{"collection":"C5:HPO","systematicName":"M38801","pmid":"","exactSource":"HP:0100693","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100693","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IRIDODONESIS","geneSymbols":["ADAMTS17","CHRDL1","CPAMD8","FBN1","LTBP2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_TIBIAL_TORSION":{"collection":"C5:HPO","systematicName":"M38802","pmid":"","exactSource":"HP:0100694","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100694","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TIBIAL_TORSION","geneSymbols":["ADGRV1","COL2A1","COL9A2","COL9A3","DDX6","FIBP","GABRA1","GABRD","GABRG2","HCN1","PCDH19","PRR12","RBM8A","SCN1A","SCN1B","SCN2A","SCN9A","SLC26A2","SLC29A3","STX1B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SCARRING":{"collection":"C5:HPO","systematicName":"M38803","pmid":"","exactSource":"HP:0100699","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100699","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SCARRING","geneSymbols":["ABCA4","ADA2","ADAMTS2","ADAMTSL2","AEBP1","AGBL5","AHI1","AHR","APC","ARHGEF18","ARL2BP","ARL3","ARL6","ATP7A","B3GALT6","B4GALT7","BBS1","BBS2","BEST1","BTNL2","C1R","C1S","CA4","CARMIL2","CC2D2A","CDHR1","CERKL","CFAP418","CFI","CHST14","CLDN1","CLRN1","CNGA1","CNGB1","COL12A1","COL17A1","COL1A1","COL1A2","COL3A1","COL5A1","COL5A2","COL6A1","COL6A2","COL6A3","COL7A1","CPOX","CRB1","CREBBP","CRX","CTSC","CYP26C1","DHDDS","DHX38","DSE","DST","EBP","ECM1","EFEMP2","EP300","EPHB4","ERCC1","ERCC4","ERCC6","ERCC8","EYS","FAM161A","FERMT1","FKBP14","FLNA","FSCN2","GATA1","GJB2","GJB6","GUCA1B","HGSNAT","HLA-A","HLA-DRB1","IDH3A","IDH3B","IFT140","IFT172","IFT88","IKBKG","IMPDH1","IMPG1","IMPG2","IPO8","ITGB4","KDF1","KIAA1549","KIZ","KLHL7","KRT14","KRT5","LAMA3","LAMB3","LAMC2","LEMD3","LRAT","LRP1","LSS","MAK","MAP3K7","MBTPS2","MERTK","MMP1","MPV17","NCAPG2","NCSTN","NEK2","NGLY1","NLRP1","NMNAT1","NOTCH3","NPPA","NR2E3","NRL","NTRK1","OCRL","OFD1","PCARE","PDE6A","PDE6B","PDE6G","PDGFRB","PKP1","PLEC","PLOD1","POLA1","POMGNT1","PPOX","PRCD","PRDM12","PRDM5","PROM1","PRPF3","PRPF31","PRPF4","PRPF6","PRPF8","PRPH2","RBP3","RDH12","REEP6","RGR","RHO","RHOA","RLBP1","ROM1","RP1","RP1L1","RP2","RP9","RPE65","RPGR","SAG","SCAPER","SEMA4A","SH3BP2","SIX6","SLC35C1","SLC39A13","SLC7A14","SMAD3","SNRNP200","SPATA7","TFAP2A","TGFBI","TGFBR1","TGFBR2","TNFRSF11B","TNXB","TOPORS","TTC8","TUB","TULP1","UROD","UROS","USH2A","ZFHX2","ZNF408","ZNF469","ZNF513"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_ARACHNOID_MATER_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M38804","pmid":"","exactSource":"HP:0100700","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100700","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ARACHNOID_MATER_MORPHOLOGY","geneSymbols":["ADAT3","ALG5","ALG9","ALKBH8","ARID2","ATP6AP1","BICC1","CCDC22","CPLANE1","DENND5A","DHCR7","DNAJB11","DNAJC19","EBP","FGFR1","FGFR2","FOXC2","GANAB","GPSM2","HRAS","IFT140","KCNC2","KRAS","NARS1","NEK1","NOTCH3","NRAS","NRCAM","NSD1","OFD1","OTUD5","PDGFRB","PI4KA","PKD1","PKD2","PLK4","PPP2R5D","PUF60","PUS3","RAB3GAP2","RNU4ATAC","RTTN","SACS","SCN1A","SCN2A","SH2B1","SHANK3","SLC30A9","SON","STT3A","TMEM231","WAC","WLS","XPNPEP3","ZNFX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_TONGUE_THRUSTING":{"collection":"C5:HPO","systematicName":"M41623","pmid":"","exactSource":"HP:0100703","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100703","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TONGUE_THRUSTING","geneSymbols":["BRAF","CDKL5","DDC","FOXG1","GABBR2","GLYCTK","GRIK2","KIF15","MECP2","NTNG1","OCA2","SHANK3","SMC1A","TPR","UBE3A","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CEREBRAL_VISUAL_IMPAIRMENT":{"collection":"C5:HPO","systematicName":"M38805","pmid":"","exactSource":"HP:0100704","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100704","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CEREBRAL_VISUAL_IMPAIRMENT","geneSymbols":["ADARB1","ADNP","AFF3","AHDC1","AMPD2","ARHGDIA","ARPC4","ASNS","ATN1","BRAF","BRAT1","CACNA1B","CACNA1D","CACNA1E","CACNA1I","CACNA2D1","CAMSAP1","CC2D2A","CCDC47","CDKL5","CDON","CEP85L","CERT1","CHD3","CHKA","CHMP1A","CLCN4","CLCN6","CLP1","COG5","COPB2","COX6B1","CPSF3","D2HGDH","DIAPH1","DISP1","DLL1","DOCK7","DOHH","DPM1","DTYMK","EMC1","FBXW7","FCSK","FDFT1","FGF12","FGF8","FGFR1","FOXH1","FOXRED1","GABRA2","GABRB1","GABRB2","GAS1","GLI2","GLYCTK","GNB1","GRIK2","GRIN1","GRIN2D","GRM7","H3-3A","HECW2","HK1","KAT6A","KIF1A","KIF5A","KMT2B","LMNB1","MACF1","MAPK8IP3","MT-CO1","MT-CO2","MT-CO3","MT-CYB","MT-ND1","MT-ND5","MT-ND6","MT-TC","MT-TF","MT-TK","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TV","MT-TW","MTHFS","NADK2","NAGA","NARS2","NDUFAF1","NEDD4L","NEUROD2","NODAL","NR2F1","NUS1","P4HTM","PARS2","PDSS2","PET100","PGAP1","PHGDH","PIGA","PIGP","PIGQ","PIGS","PIGT","PIGU","PIGY","PLCH1","POLG","POLG2","POLR3GL","PPP2R1A","PPP3CA","PRUNE1","PSMD12","PTCH1","PYCR2","RAB18","RAB3GAP1","RAB3GAP2","RALGAPA1","RERE","RNF13","RRM2B","SCN1A","SCN3A","SELENOI","SEPSECS","SHANK3","SHH","SIX3","SLC25A1","SLC25A19","SLC25A4","SLC31A1","SLC35A2","SMC1A","SNRPN","SON","SPATA5","SPATA5L1","SPTBN4","ST3GAL5","STAG2","STIL","SUOX","TANGO2","TBC1D20","TBCK","TDGF1","TELO2","TGIF1","TIMM8A","TMEM237","TMEM53","TRAF7","TRAPPC12","TRAPPC2L","TSEN15","TSEN2","TSEN34","TSEN54","TUBGCP2","TWNK","VAMP2","VPS11","VPS51","YIF1B","ZIC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_GLIAL_CELL_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M38806","pmid":"","exactSource":"HP:0100705","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100705","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_GLIAL_CELL_MORPHOLOGY","geneSymbols":["ADAR","ADH1C","ADNP","AIFM1","AKT3","AP4M1","APC","APC2","ARX","ATP6V1A","ATXN2","ATXN3","ATXN8OS","AVP","BCS1L","BMPR1A","BRAT1","BRCA2","C9orf72","CDKN1A","CDKN1B","CDKN2A","CDKN2B","CDKN2C","CHCHD10","CHEK2","CHMP2B","CNTN2","COX15","CSF1R","CYP27A1","DNAJC13","DTYMK","DYRK1A","EHMT1","EIF2B1","EIF4G1","EPCAM","ERBB2","ERCC6","ERCC8","ETFA","ETFB","ETFDH","FAN1","FARS2","FBXO7","FGFR1","FUS","GBA1","GDAP2","GIGYF2","GLS","GLUD2","GRN","HSD17B4","HTT","IDH1","IDH2","IFNG","KARS1","KCNT1","KDM3B","KMT2C","KRAS","L2HGDH","LAMA2","LMNB1","LONP1","LRPPRC","LRRK2","MAN2B1","MAPT","MDM2","MEN1","MLH1","MLH3","MOCS1","MOCS2","MSH2","MSH3","MSH6","MT-ATP6","MT-TT","MTOR","NARS2","NAXD","NBN","NDUFS8","NF1","NF2","NGLY1","NR4A2","NSD1","NUP54","NUP62","PAX2","PDHA1","PIGA","PIK3CA","PLA2G6","PLP1","PMPCA","PMS1","PMS2","POLG","POT1","PRKN","PRNP","PSEN1","PTEN","RANBP2","RELA","RPS20","SCO2","SEMA4A","SERPINI1","SETBP1","SETD2","SLC25A46","SLC30A10","SMO","SNCA","SNCAIP","SPRED1","SQSTM1","STRADA","TARDBP","TBCD","TBK1","TBP","TFG","TGFBR2","THOC2","TLR3","TMEM106B","TP53","TREM2","TSC1","TSC2","TSEN54","TYROBP","UBQLN2","VCP","VPS35","VRK1","YY1","ZFTA","ZNF335"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_ASTROCYTE_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M38807","pmid":"","exactSource":"HP:0100707","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100707","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ASTROCYTE_MORPHOLOGY","geneSymbols":["ADAR","AIFM1","APC","APC2","BRCA2","CDKN2A","CHEK2","CHMP2B","ERBB2","ERCC6","ERCC8","FGFR1","GRN","IDH1","IDH2","IFNG","LAMA2","MAPT","MDM2","MLH1","MSH3","MSH6","MT-ATP6","MTOR","NF1","NF2","NSD1","NUP54","NUP62","PMS2","POLG","POT1","PRNP","PSEN1","SETD2","SLC30A10","SQSTM1","STRADA","TMEM106B","TP53","TREM2","TSC1","TSC2","VCP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_IMPULSIVITY":{"collection":"C5:HPO","systematicName":"M46399","pmid":"","exactSource":"HP:0100710","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100710","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPULSIVITY","geneSymbols":["AARS1","ACTL6B","ADAT3","AFF2","AMT","AP3B2","ARPC4","ARV1","ATP1A2","ATP1A3","ATP6V1A","BCORL1","C19orf12","CACNA1A","CACNA1B","CACNA2D1","CDH2","CDK19","CDON","CELF2","CEP152","CLTC","CNKSR2","COQ5","CREBBP","CYFIP2","DALRD3","DEPDC5","DHDDS","DISP1","DLL1","DNAJC13","DNAJC6","DNM1","DNMT1","DPYSL5","EEF1A2","EIF4G1","EP300","FBXO28","FBXW11","FGF12","FGF13","FGF8","FOXH1","FUZ","FZR1","GABBR2","GABRA1","GABRA2","GABRA5","GABRB2","GABRB3","GABRG2","GAS1","GBA1","GIGYF2","GLDC","GLI2","GNB2","GRIK2","GRIN2A","GRIN2D","H4C5","HCN1","HEPHL1","HIVEP2","HTRA2","IFNG","IL1RAPL1","KANSL1","KCNA2","KCNB1","KNL1","LGI1","LRRK2","MAGEL2","MAOA","MAPT","NAA20","NECAP1","NFIB","NODAL","NONO","NTRK1","NTRK2","NUS1","PACS2","PANK2","PARK7","PARS2","PCDH19","PHIP","PINK1","PLA2G6","PODXL","POLA1","PPP3CA","PRKN","PTCH1","PTCHD1","RELN","SCN1A","SCN1B","SCN2A","SCN3A","SCN8A","SCN9A","SHH","SIX3","SLC13A5","SLC1A2","SLC1A3","SLC38A3","SNCA","SPEN","SPTBN1","SRCAP","STIL","SUGCT","SYNGAP1","SYNJ1","SZT2","TDGF1","TGIF1","TMEM240","TRAK1","TSC1","TSC2","UBA5","UBTF","UCHL1","USP7","VANGL1","VPS13C","VPS16","VPS35","WDR62","WWOX","YWHAG","ZIC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_THORACIC_SPINE_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M38808","pmid":"","exactSource":"HP:0100711","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100711","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_THORACIC_SPINE_MORPHOLOGY","geneSymbols":["AARS1","ACTA1","ADGRG6","AEBP1","AGRN","AIFM1","AK9","ALDH3A2","ALMS1","AMER1","ANKRD11","AP1G1","BAG3","CARS1","CCN6","CDH11","CHRNA1","CHRNB1","CHRND","CHRNE","COG1","COL13A1","COL2A1","CYP27A1","DES","DMD","DOK7","DYM","ERCC2","ERCC3","ERLIN1","EXTL3","FBXO28","FGFR3","FLI1","FLNB","GBA1","GDF3","GLB1","GNPTAB","GNS","GTF2E2","GTF2H5","GUSB","HECTD4","HINT1","IARS2","ITCH","KIF22","KMT2D","KY","LBR","LHX3","LMNA","LRP4","MAN2B1","MED12L","MGAT2","MOGS","MPLKIP","MTRFR","MUSK","MYH7","MYPN","NARS1","NEK9","NEPRO","NFIX","NKX3-2","NPR2","PCGF2","PEX5","PHF8","PIK3C2A","PIK3R2","PLK4","PLOD1","POP1","PRKG2","PUF60","PYCR2","RAB3GAP2","RAB5IF","RAPSN","RBBP8","RMRP","RNF113A","RYR1","SC5D","SCN4A","SERPINH1","SGCA","SLC26A2","SMARCAL1","SOX5","SOX9","SPRTN","SRD5A3","TARS1","TBX5","TMEM231","TONSL","TPM2","TPM3","TRAPPC2","TRPV4","TUBB3","VPS13B","VPS33A","WDR81","XYLT2","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_LUMBAR_SPINE_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M38809","pmid":"","exactSource":"HP:0100712","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100712","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LUMBAR_SPINE_MORPHOLOGY","geneSymbols":["AMER1","ATG7","BMPER","CCN6","CDH11","COL2A1","ERLIN2","EXTL3","FBXO28","FGFR3","FLNB","GALNS","GBA1","GLB1","GNPTAB","GUSB","KIF22","LBR","LHX3","MAN2B1","MED12L","MGAT2","NEPRO","NPR2","NTRK1","POLR3GL","POP1","RPS6KA3","SC5D","SLC26A2","SLF2","TRAPPC2","VPS33A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SELF_INJURIOUS_BEHAVIOR":{"collection":"C5:HPO","systematicName":"M38810","pmid":"","exactSource":"HP:0100716","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100716","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SELF_INJURIOUS_BEHAVIOR","geneSymbols":["ABCA12","ADSL","ALDH5A1","ALG13","ALG14","AP1G1","AP1S2","ARX","ASXL3","ATG7","ATP1A1","ATP6V0A1","ATRX","AUH","BCL11A","BCOR","C12orf57","CAMK2G","CASK","CASZ1","CDC42BPB","CDH2","CDKL5","CEP104","CEP152","CHD5","CHD7","CHKA","CLCN3","CLCN4","CLTCL1","CNTNAP2","CRB1","CRBN","CREBBP","CTNNB1","DCHS1","DEAF1","DHCR7","DMXL2","DNM1","DNM1L","DPAGT1","DPYD","EEF1A2","EHMT1","ELP2","EP300","FAT4","FBXW11","FLII","FMR1","FOXP1","GABBR2","GABRD","GAMT","GATAD2B","GJA5","GJA8","GJB2","GLS","GNAO1","GRIA1","GRIA2","GRIA3","GRIN1","GRM7","GUCY2D","H4C5","HDAC4","HDC","HECW2","HERC2","HNRNPH2","HPRT1","HSPG2","HTR2A","IFNG","INPP5E","IQSEC2","KARS1","KAT5","KCNA1","KCNAB2","KIF15","KIF5C","KMT2C","KMT2E","KPTN","LARP7","LUZP1","MADD","MAGEL2","MAOA","MAPK1","MBD5","MGAT2","MKRN3","MMP23B","MYT1L","NAA10","NALCN","NAT8L","NDE1","NDN","NDP","NDST1","NEUROD2","NEXMIF","NFIX","NIPA1","NIPA2","NIPBL","NMNAT1","NPAP1","NRCAM","NTNG2","NTRK1","OCA2","OCRL","ODC1","OPHN1","PAH","PDPN","PIDD1","PIGF","PIGP","PIGQ","PNKP","POGZ","PPP2CA","PRDM16","PRKCZ","PWAR1","PWRN1","RAI1","RBL2","RERE","RFX7","RHOBTB2","RLIM","RNU7-1","RPE65","RPL10","RPS6KA3","RTTN","SATB2","SCN1B","SCN2A","SETBP1","SHANK3","SHQ1","SIK1","SIM1","SKI","SLC1A4","SLC25A22","SLC32A1","SLC6A17","SLC6A4","SLC6A8","SLITRK1","SMARCC2","SMG8","SNORD115-1","SNORD116-1","SNRPN","SOX5","SPATA5","SPEN","SPOP","SVBP","SYT1","TAOK1","TBC1D23","TCF4","THOC2","TKT","TMCO1","TMEM147","TMEM231","TREX1","TRIM8","TRIO","TSC1","TSC2","TUBG1","TULP1","UBE2A","UBE4B","UNC80","USP7","VAMP2","VPS13A","WAC","WASF1","WASHC4","WDR62","ZBTB20"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_UTERINE_RUPTURE":{"collection":"C5:HPO","systematicName":"M46400","pmid":"","exactSource":"HP:0100718","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100718","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UTERINE_RUPTURE","geneSymbols":["COL3A1","IPO8","NDP","TGFBR1","TGFBR2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPOPLASIA_OF_THE_EAR_CARTILAGE":{"collection":"C5:HPO","systematicName":"M38811","pmid":"","exactSource":"HP:0100720","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100720","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASIA_OF_THE_EAR_CARTILAGE","geneSymbols":["CD96","DDR2","GON7","LAGE3","NUP107","NUP133","OSGEP","TP53RK","TPRKB","WDR4","WDR73","YRDC"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MEDIASTINAL_LYMPHADENOPATHY":{"collection":"C5:HPO","systematicName":"M38812","pmid":"","exactSource":"HP:0100721","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100721","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MEDIASTINAL_LYMPHADENOPATHY","geneSymbols":["AGR2","APOE","BCL10","BCL2","BCL6","BIRC3","BTNL2","CYBA","CYBB","CYBC1","EIF2AK4","EWSR1","FOXP1","HLA-B","HLA-DPB1","HLA-DRB1","IRF4","MAGT1","MALT1","NCF1","NCF2","NCF4","P4HA2","PIK3CG","PRKCD","PTPN22","RASGRP1","TERT","WT1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_GASTROINTESTINAL_STROMA_TUMOR":{"collection":"C5:HPO","systematicName":"M38813","pmid":"","exactSource":"HP:0100723","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100723","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GASTROINTESTINAL_STROMA_TUMOR","geneSymbols":["CD19","CD81","CR2","ICOS","IRF2BP2","KIT","MS4A1","NF1","NFKB1","NFKB2","PDGFRA","PRKCD","SDHA","SDHB","SDHC","SDHD","TNFRSF13B","TNFRSF13C","TNFSF12"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPERCOAGULABILITY":{"collection":"C5:HPO","systematicName":"M38814","pmid":"","exactSource":"HP:0100724","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100724","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERCOAGULABILITY","geneSymbols":["AGGF1","ANK1","DLD","EPB42","F5","F9","GATA2","HBB","HRG","MYD88","PROC","PROS1","SLC4A1","SPTA1","SPTB","THBD"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LICHENIFICATION":{"collection":"C5:HPO","systematicName":"M38815","pmid":"","exactSource":"HP:0100725","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100725","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LICHENIFICATION","geneSymbols":["ANGPT2","CARD14","CD28","COL7A1","CSTA","CTLA4","FLT4","GJC2","HLA-DRA","KRT10","LBR","NTRK1","OSMR","PIEZO1","TNFRSF1B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HISTIOCYTOSIS":{"collection":"C5:HPO","systematicName":"M47337","pmid":"","exactSource":"HP:0100727","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100727","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HISTIOCYTOSIS","geneSymbols":["GPR35","IFNGR1","MST1","SEMA4D","SLC29A3","TCF4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_GERM_CELL_NEOPLASIA":{"collection":"C5:HPO","systematicName":"M38816","pmid":"","exactSource":"HP:0100728","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100728","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GERM_CELL_NEOPLASIA","geneSymbols":["AKT1","APC2","AR","BCL10","CDH1","CDKN1C","CDKN2A","CHEK2","CTNNB1","DHH","DHX37","DICER1","DMRT3","ERBB2","FGFR2","FGFR3","GATA4","IGF2","KCNQ1","KCNQ1OT1","KEAP1","KIT","MAP3K1","MDM2","MNX1","MSH3","NR0B1","NR5A1","NSD1","OPCML","PAX6","PDE11A","PIK3CA","PRKAR1A","PRKN","RNF43","SETBP1","SETD2","SOX9","SRY","STK11","STS","TP53","VAMP7","WT1","WWOX","ZFPM2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LARGE_FACE":{"collection":"C5:HPO","systematicName":"M38817","pmid":"","exactSource":"HP:0100729","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100729","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LARGE_FACE","geneSymbols":["ACTA1","ADAT3","ADNP","AGA","AGRN","AHI1","AIP","AKT1","ALG12","ALKBH8","ANKRD11","AP1S2","APC","APC2","ARL13B","ARL3","ARMC9","ARVCF","ASPH","ASXL1","ASXL2","ATAD3A","ATG7","ATP7A","B3GLCT","B9D1","B9D2","BCAS3","BCOR","BCORL1","BCR","BIN1","BRAF","BRAT1","BRWD3","C12orf57","CAMTA1","CBY1","CC2D2A","CCDC115","CCDC174","CDC42BPB","CEP104","CEP120","CEP290","CEP41","CEP57","CHAMP1","CHAT","CHRNB1","CHRNE","CHRNG","CLCF1","CLCN3","CLCN4","COL13A1","COL3A1","COMT","CPLANE1","CPSF3","CRKL","CRLF1","CSPP1","CUX1","DDR2","DDX3X","DEAF1","DHX30","DNM1","DOCK3","EBF3","EIF2S3","ERCC1","ERCC4","ERCC6","ERCC8","EXTL3","EYA1","FAM149B1","FBN1","FBXO11","FGF3","FLII","FLNA","FLNB","FMR1","FRA10AC1","GALNT2","GFPT1","GP1BB","GPR101","GRIN1","HACD1","HDAC4","HERC1","HIRA","HNRNPH1","HNRNPK","HRAS","HUWE1","HYLS1","IDUA","IFT74","INPP5E","IQSEC2","ITGA7","JMJD1C","KANSL1","KAT6A","KATNIP","KBTBD13","KCNK9","KIAA0586","KIAA0753","KIF7","KLHL41","KMT2B","KRAS","LETM1","MAN1B1","MAP2K1","MAP2K2","MAP3K20","MAPK1","MAPK8IP3","MAPRE2","MED12","MEIS2","MGP","MID2","MKS1","MMACHC","MOCS1","MOCS2","MRAS","MSTO1","MTM1","MYH3","MYL2","MYO9A","MYPN","NBAS","NEB","NEDD4L","NF1","NFIA","NFIB","NFIX","NHS","NKAP","NONO","NPHP1","NRCAM","NSD1","NSDHL","NSUN2","OCRL","OFD1","OPHN1","OTUD6B","PAK1","PBX1","PCDHGC4","PCGF2","PDE4D","PDE6D","PEX13","PHF8","PIBF1","PIGK","PIGU","PMM2","POC1A","POLA1","POU4F1","PPP1R12A","PPP2R5D","PQBP1","PRDX1","PRKACA","PRKACB","PTCH1","PTEN","PURA","PYROXD1","RAB39B","RAI1","RAPSN","RECQL4","RIC1","RMRP","RPGRIP1L","RPL10","RREB1","RUSC2","RYR1","SATB2","SCN4A","SCUBE3","SEC24C","SELENON","SETBP1","SETD2","SGCG","SIN3A","SIX1","SLC12A6","SLC16A2","SLC18A3","SLC25A1","SLC2A10","SLC5A7","SLC6A8","SLC9A6","SLC9A7","SLF2","SMAD2","SMAD3","SMC5","SMS","SNAP25","SNAP29","SNX14","SOST","SOX6","SPEG","SPEN","SRCAP","STEEP1","STRADA","STT3A","SUFU","SYNE1","SYNGAP1","SYT2","TAB2","TAF1","TBL1XR1","TBX1","TCF20","TCTN1","TCTN2","TCTN3","TET3","TGFB3","TLK2","TMEM138","TMEM147","TMEM216","TMEM218","TMEM231","TMEM237","TMEM67","TNNT1","TOGARAM1","TONSL","TOPORS","TP53RK","TPM2","TPM3","TPRKB","TRAIP","TSPAN7","TTC26","TTC5","TTN","UBE2A","UBE3B","UFD1","UPF3B","VAMP1","WNT7A","XRCC4","ZNF423","ZNF711"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PANCREATIC_FIBROSIS":{"collection":"C5:HPO","systematicName":"M38818","pmid":"","exactSource":"HP:0100732","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100732","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PANCREATIC_FIBROSIS","geneSymbols":["B9D1","B9D2","CC2D2A","CEP290","CSPP1","DYNC2I1","MKS1","NEK1","NPHP3","PTRH2","RPGRIP1","RPGRIP1L","SLC37A4","TCTN1","TCTN2","TCTN3","TMEM107","TMEM216","TMEM231","TMEM237","TMEM67","TXNDC15"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NEOPLASM_OF_THE_PARATHYROID_GLAND":{"collection":"C5:HPO","systematicName":"M38819","pmid":"","exactSource":"HP:0100733","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100733","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_PARATHYROID_GLAND","geneSymbols":["CASR","CDC73","CDKN1A","CDKN1B","CDKN2B","CDKN2C","CLCNKB","FLCN","GCM2","IDH1","IDH2","IFNG","MEN1","NF1","RET","SLC12A3","TSC1","TSC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPERTENSIVE_CRISIS":{"collection":"C5:HPO","systematicName":"M38820","pmid":"","exactSource":"HP:0100735","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100735","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERTENSIVE_CRISIS","geneSymbols":["ARVCF","CAV1","CCN2","CCR6","COMT","GP1BB","HIRA","HLA-B","HLA-DRB1","IL12B","IRF5","JMJD1C","MLX","MYMK","MYMX","RREB1","SEC24C","TBX1","TLR7","UFD1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_SOFT_PALATE_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M38821","pmid":"","exactSource":"HP:0100736","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100736","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SOFT_PALATE_MORPHOLOGY","geneSymbols":["ADA2","AEBP1","ALG3","ALG9","AMER1","AMMECR1","ARHGAP29","ARHGEF38","ASPH","ATP6V1B2","B3GALNT2","B4GALT7","B4GAT1","B9D2","BCOR","BGN","BICRA","BIN1","BMP4","BRCA1","BRCA2","BRIP1","BUB1","CDC45","CDC6","CDH1","CDH11","CDON","CDT1","CHD4","CHD7","COBLL1","COL11A1","COL11A2","COL2A1","COL4A1","CRPPA","CUL3","DAG1","DDX3X","DDX59","DGCR2","DGCR6","DGCR8","DHCR24","DHCR7","DISP1","DLG1","DLG3","DLK1","DLL1","DLX4","DVL1","DYRK1A","EDN1","EIF4A3","ERCC4","ESS2","EYA1","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FBXO11","FGF10","FGF8","FGFR1","FGFR2","FGFR3","FKBP14","FKRP","FKTN","FLNA","FOXH1","FTO","GAS1","GATA1","GJA5","GJA8","GLI2","GLI3","GMNN","GNAI3","GNB2","GRHL3","H4C5","HAAO","HEATR3","HNRNPK","HYAL1","HYLS1","IFT140","IGBP1","IPO8","IRF6","KAT6B","KCNH1","KCNK9","KCNMA1","KCNN3","KCTD1","KDM6B","KIF14","KIF7","KMT2C","KMT2D","LARGE1","MAD2L2","MAP3K7","MED12","MEG3","METTL23","MSX1","MSX2","MYL11","MYMX","NECTIN1","NEK1","NODAL","NONO","NXN","ORC1","ORC4","ORC6","PALB2","PDGFRA","PGAP1","PGAP2","PGAP3","PGM1","PI4KA","PIEZO2","PIGL","PIGO","PIGV","PIGW","PIGY","PLCB4","PLCH1","POGZ","POLA1","POLR3A","POMGNT1","POMGNT2","POMK","POMT1","POMT2","PPP1CB","PRR12","PTCH1","PTDSS1","RAD21","RAD51","RAD51C","RAI1","RECQL4","RFWD3","RFX7","RIC1","RLIM","RNU4ATAC","ROR2","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS23","RPS24","RPS26","RPS27","RPS28","RPS29","RPS7","RTL1","RXYLT1","RYR1","SATB2","SCNM1","SEC23A","SELENOI","SEMA3E","SERPING1","SETD5","SF3B4","SHH","SHMT2","SIAH1","SIX1","SIX3","SKIC3","SLC25A19","SLC2A10","SLC39A13","SLX4","SMAD3","SMAD4","SMARCD1","SMC1A","SMCHD1","SMPD4","SMS","SNRPB","SNRPN","SON","SPEG","SPTBN1","STAC3","STAG2","STIL","SUPT16H","TBCE","TBX1","TBX22","TCOF1","TCTN3","TDGF1","TGDS","TGFB2","TGFB3","TGFBR1","TGFBR2","TGIF1","THOC6","TMEM231","TP63","TSR2","TTN","TUBB6","TWIST1","TWIST2","TXNL4A","UBB","UBE2T","USP9X","WDR35","XRCC2","XYLT1","ZEB2","ZIC2","ZPR1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_HARD_PALATE_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M46401","pmid":"","exactSource":"HP:0100737","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100737","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_HARD_PALATE_MORPHOLOGY","geneSymbols":["AMMECR1","DVL1","GLI2","LRP5","PDE11A","PRKAR1A","PRR12","SHH","SNRPB","TP63","WNT5A","ZBTB20","ZEB2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_EATING_BEHAVIOR":{"collection":"C5:HPO","systematicName":"M38822","pmid":"","exactSource":"HP:0100738","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100738","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_EATING_BEHAVIOR","geneSymbols":["ABCC8","ACAT1","ADCY3","ADNP","AGPAT2","AGRN","ALMS1","ARID1A","ARID1B","ARID2","ASH1L","ATP10A","ATP5F1B","BBS9","BRAF","BSCL2","CACNA1A","CASZ1","CDK13","CHAT","CHD8","CLCNKB","COL13A1","CTNNB1","DHPS","DNM1","DPF2","DPYD","ELP2","EZH2","FOXG1","GABRD","GNAS","GPR101","GRB10","GRN","HERC2","HNF1A","HSPG2","HTT","IFT74","IL6","ITPR3","KCNAB2","KCNJ10","KCNJ11","LARP7","LEP","LEPR","LUZP1","MAGEL2","MAN1B1","MAPT","MBD5","MC4R","MEIS2","MEN1","MKRN3","MMP23B","MN1","MYO9A","MYT1L","NDN","NEXMIF","NKX2-1","NPAP1","NTRK2","OCA2","PACS1","PCDH19","PCSK1","PDPN","PDSS1","PGM2L1","PLA2G6","POMC","PRDM16","PREPL","PRKCZ","PSEN1","PTPN22","PWAR1","PWRN1","RERE","RFX7","SATB2","SCN4A","SETD2","SH2B1","SIM1","SKI","SLC12A3","SLC18A3","SLC25A1","SLC25A13","SLC2A3","SLC3A1","SLC5A2","SLC5A7","SLC7A7","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SNAP25","SNORD115-1","SNORD116-1","SNRPN","SOX11","SOX4","SPEN","SUPT16H","SYNGAP1","SYT2","TRANK1","UBE3A","UBE4B","UCP2","VAMP1","YY1","ZNF699","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BULIMIA":{"collection":"C5:HPO","systematicName":"M43585","pmid":"","exactSource":"HP:0100739","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100739","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BULIMIA","geneSymbols":["MAGEL2","NDN","NEXMIF","OCA2","PDSS1","SNRPN"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_VASCULAR_NEOPLASM":{"collection":"C5:HPO","systematicName":"M38823","pmid":"","exactSource":"HP:0100742","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100742","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VASCULAR_NEOPLASM","geneSymbols":["ACVRL1","AGGF1","AKT1","ANTXR1","APC2","ARID1B","ARL6IP6","ASXL1","ATP2B1","ATP6V1B2","BIN1","BMPR1A","BRAF","CALR","CCDC22","CCM2","CCND1","CD96","CDON","CLPB","COQ6","CPLX1","CREBBP","CTBP1","CTSA","CYP26C1","DHCR7","DIS3L2","DISP1","DLL1","DLST","DNM2","DPM1","DPYSL5","DVL1","DVL3","EIF2AK4","ELANE","ENG","EP300","EPHB4","ESCO2","EXTL3","FBXO28","FGF8","FGFR1","FGFR2","FGFRL1","FH","FLT4","FOXH1","FZD2","GAS1","GDF2","GFI1","GLI2","GLI3","GNA11","GNA14","GNAQ","GNPTAB","GPC6","H4C5","HOXD13","HRAS","HS2ST1","IDH1","IDH2","IFNG","JAK2","KANSL1","KDM6B","KDR","KIF1B","KLLN","KRAS","KRIT1","LETM1","LZTR1","MAP2K1","MAP2K2","MAX","MDH2","MGAT2","MPL","MSL3","MTMR14","MTOR","MYF6","NDP","NELFA","NF1","NF2","NODAL","NOTCH1","NRAS","NSD1","NSD2","PDCD10","PIGG","PIK3CA","POR","PPP1CB","PTCH1","PTEN","PTH1R","PUF60","RASA1","RBM8A","RECQL4","RET","RRAS2","RYR1","SDHA","SDHAF2","SDHB","SDHC","SDHD","SEC23A","SEC23B","SETBP1","SETD2","SHH","SHOC2","SIX3","SLC25A11","SLC26A2","SMAD4","SMARCB1","SPEN","SRD5A3","SRP19","SRP54","STAC3","SUFU","TBC1D24","TBX2","TCIRG1","TDGF1","TEK","TET2","TFAP2A","TGIF1","THSD1","TMEM127","TRPM3","TSC1","TSC2","USF3","VHL","VPS35L","WASHC5","WNT5A","ZIC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NEOPLASM_OF_THE_RECTUM":{"collection":"C5:HPO","systematicName":"M38824","pmid":"","exactSource":"HP:0100743","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100743","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_RECTUM","geneSymbols":["AKT1","APC","AXIN2","BMPR1A","CDKN2A","CHEK2","DICER1","ENG","EPCAM","FAN1","GREM1","KEAP1","KIT","KLLN","KRAS","MDM2","MLH1","MLH3","MSH2","MSH3","MSH6","MUTYH","NTHL1","PDE11A","PDGFRA","PIK3CA","PMS1","PMS2","POLD1","POLE","PRKAR1A","PTEN","RNF43","RPS20","SDHA","SDHB","SDHC","SDHD","SEC23B","SEMA4A","SMAD4","STK11","TGFBR2","TP53","USF3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_HUMERORADIAL_JOINT":{"collection":"C5:HPO","systematicName":"M38825","pmid":"","exactSource":"HP:0100744","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100744","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_HUMERORADIAL_JOINT","geneSymbols":["AFF3","ARID1B","ASXL1","ATR","B3GALT6","B3GAT3","B4GALT7","BMP1","CD96","CDC45","CHRNG","CHST3","CLCN3","COL1A1","COL27A1","COL5A1","COL5A2","CREBBP","CYP26B1","DONSON","DVL1","EP300","ERCC1","EXOC6B","EXTL3","FGF9","FGFR1","FGFR2","FLNA","FZD2","GDF5","GPC6","GSC","IFITM5","KIF22","L1CAM","LMX1B","MAP3K7","NIPBL","NOG","NOTCH2","POR","PRKAR1A","PTDSS1","RNU4ATAC","ROR2","SCARF2","SHOX","SKI","SLC39A13","SOX9","SRCAP","TBX15","WNT5A","WNT7A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CHEST_PAIN":{"collection":"C5:HPO","systematicName":"M38826","pmid":"","exactSource":"HP:0100749","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100749","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHEST_PAIN","geneSymbols":["ABCC9","ACTA2","ACTC1","ADAMTS19","APC","BAP1","BTNL2","CALR","CAV3","CDH2","CFTR","COL3A1","COL4A5","COL4A6","CRLF1","CTLA4","CTNNB1","DBH","DLEC1","DLST","DNMT3A","DPM3","DSG2","ELN","ENG","EPAS1","EXT1","EXT2","FBN1","FH","FOXE3","GATA4","GATA5","GATA6","GJA5","GNAS","HBB","HEY2","HLA-B","HLA-DPA1","HLA-DPB1","HLA-DQA1","HLA-DQB1","HLA-DRB1","IL12B","IRAK1","IRF4","JAK2","KCNA5","KCNE1","KCNE2","KCNJ2","KCNJ3","KCNJ5","KCNQ1","KIF1B","LOX","MAT2A","MAX","MDH2","MEF2A","MEFV","MFAP5","MLX","MPL","MT-TK","MYBPC3","MYH11","MYH7","MYL2","MYL4","MYLK","NF1","NKX2-5","NKX2-6","NOD2","NOS1","NPPA","NUP155","PIGA","PITX2","PLN","PNPLA2","PPA2","PPOX","PRKAG2","PRKAR1A","PRKG1","PRTN3","PTPN22","RASA1","RET","RNF6","SAT1","SCN1B","SCN2B","SCN3B","SCN4A","SCN4B","SCN5A","SCNN1A","SCNN1B","SCNN1G","SDHA","SDHAF2","SDHB","SDHC","SDHD","SH2B3","SLC25A11","SLC34A2","SMAD2","SMAD3","SMAD4","SPP1","STAT4","STX16","TET2","TGFB2","TGFB3","TGFBR1","TGFBR2","THPO","THSD4","TMEM127","TMEM43","TNFRSF1A","TNNC1","TP53","TSC1","TSC2","TTN","VHL","WAS","WIPF1","WWOX"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ATELECTASIS":{"collection":"C5:HPO","systematicName":"M38827","pmid":"","exactSource":"HP:0100750","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100750","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ATELECTASIS","geneSymbols":["ABCA3","AGR2","ARVCF","ASAH1","B3GALT6","C1QB","CCDC103","CCDC39","CCDC40","CCDC65","CCNO","CFAP221","CFAP298","CFAP300","CFAP74","COMT","CXCR4","CYBB","DNAAF1","DNAAF11","DNAAF2","DNAAF3","DNAAF4","DNAAF5","DNAAF6","DNAH1","DNAH11","DNAH5","DNAH9","DNAI1","DNAI2","DNAJB13","DNAL1","DRC1","FOXJ1","GAS2L2","GAS8","GP1BB","HIRA","HYDIN","IL6ST","JMJD1C","LAMA2","LRRC56","LTBP4","MCIDAS","NEK10","NHLRC2","NKX2-1","NME5","NME8","OCRL","ODAD1","ODAD2","ODAD3","ODAD4","OFD1","PAX3","PLEC","RIPK4","RPGR","RREB1","RSPH1","RSPH3","RSPH4A","RSPH9","SEC24C","SFTPB","SFTPC","SPAG1","SPEF2","STAT3","STK36","TBX1","TP73","TSC1","TSC2","TTC12","UFD1","ZMYND10"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ESOPHAGEAL_NEOPLASM":{"collection":"C5:HPO","systematicName":"M38828","pmid":"","exactSource":"HP:0100751","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100751","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ESOPHAGEAL_NEOPLASM","geneSymbols":["AAGAB","APC","ASCC1","BLM","COL14A1","COL4A5","COL4A6","CTHRC1","DCC","DLEC1","FH","KIT","LZTS1","MSR1","MYH11","PDE11A","PDGFRA","PRKAR1A","RAD21","RHBDF2","RNF6","SDHA","SDHB","SDHC","STAT1","STK11","TGFBR2","TOM1","WWOX"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SCHIZOPHRENIA":{"collection":"C5:HPO","systematicName":"M38829","pmid":"","exactSource":"HP:0100753","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100753","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SCHIZOPHRENIA","geneSymbols":["ADGRV1","AMACR","APOL2","APOL4","ARSA","ARSG","ARVCF","ATG7","ATP2A2","CAT","CDH23","CEP78","CHI3L1","CHRNA7","CIB2","CLRN1","COMT","DAOA","DNAJC13","DNMT3A","DRD3","DSG4","EIF4G1","ESPN","FLI1","FTSJ1","GBA1","GIGYF2","GJA5","GJA8","GP1BB","HARS1","HIRA","HTR2A","JMJD1C","KRT81","KRT83","KRT86","LRRK2","MED12","MSTO1","MT-TE","MT-TS2","MTHFR","MYO7A","NIPA1","NIPA2","NKX2-1","PCDH15","PDZD7","PRODH","PSAP","RBM12","RREB1","RTN4R","SEC24C","SETD1A","SHANK3","SLC12A2","SNCA","SYN2","TBX1","TUBG1","UFD1","UPF3B","USH1C","USH1G","USH2A","VPS35","WFS1","WHRN","ZBTB20","ZDHHC9"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MANIA":{"collection":"C5:HPO","systematicName":"M38830","pmid":"","exactSource":"HP:0100754","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100754","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MANIA","geneSymbols":["ARMC5","ARVCF","ATP2A2","CEP85L","CHRNA7","CLCN4","COMT","DNMT3A","FA2H","FLI1","GNAS","GP1BB","GRIA1","HIRA","JMJD1C","MECP2","MT-CO1","MT-CO2","MT-CO3","MT-ND1","MT-ND4","MT-ND5","MT-ND6","MT-TF","MT-TH","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TW","PDGFRB","POLG","POLG2","PRNP","RBM12","RPS6KA3","RREB1","RRM2B","SEC24C","SLC25A13","SLC25A4","SMPD1","TBCK","TBX1","TWNK","UFD1","VPS16"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_SALIVATION":{"collection":"C5:HPO","systematicName":"M38831","pmid":"","exactSource":"HP:0100755","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100755","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_SALIVATION","geneSymbols":["ADGRG1","ALS2","ANG","ANKLE2","ANXA11","AP4B1","AP4E1","AP4M1","AP4S1","ARX","ATP10A","ATP1A3","ATP6AP2","ATP7B","ATRX","ATXN2","BANK1","BCORL1","BLK","C4A","C4B","CACNA1I","CAMTA1","CAV1","CCN2","CCNF","CCR6","CERT1","CFAP410","CHAMP1","CHCHD10","CHMP2B","CHRM3","CLDN10","CLDN11","CR2","CTLA4","DAO","DCTN1","DEAF1","DLAT","DLK1","DNASE1","DNM1L","EDARADD","EIF2S3","ELOVL1","EPHA4","ERBB4","ETS1","EXTL3","FBLN1","FBXO28","FCGR2B","FCGR3B","FGF10","FGFR2","FGFR3","FIG4","FOXG1","FOXP1","FOXP2","FUS","GABBR2","GABRA1","GABRG2","GCH1","GFM2","GLE1","GLT8D1","GNS","GPT2","GRIK2","GRIN2A","GRIN2D","GSN","HDAC4","HERC1","HIVEP2","HLA-B","HLA-DRB1","HNRNPA1","HNRNPH2","HPDL","IGHG1","IKZF1","IL10","IRAK1","IRF5","ITGAM","JAZF1","KCNC2","KIAA0319L","KIF15","KIF7","LBR","LMNB2","LNPK","MAGEL2","MATR3","MBD5","MECP2","MED12","MED27","MEG3","MRE11","MTHFS","NAA20","NALCN","NAXD","NEFH","NEK1","NEXMIF","NFIX","NOD2","NONO","NRXN1","NTNG2","OCA2","OPTN","PAK3","PCDH19","PCGF2","PDCD1","PDE10A","PFN1","PI4KA","PIGL","PLA2G6","PMP22","POLR3A","POLR3B","PON1","PON2","PON3","POU3F3","PPARGC1A","PRPH","PRPS1","PTPN22","PTS","PXK","QDPR","RAB11B","RSRC1","RTL1","SATB1","SATB2","SCN1A","SCN1B","SCN2A","SCN9A","SERPING1","SETD5","SH3TC2","SHMT2","SIM1","SLC12A2","SLC12A5","SLC16A2","SLC1A4","SLC25A12","SLC9A6","SLC9A7","SMARCA2","SNRPN","SOD1","SPART","SPEN","SPP1","SPTBN1","SQSTM1","SRPX2","STAT4","STRADA","SYNGAP1","TAF15","TANGO2","TARDBP","TASP1","TBK1","TBX1","TH","TLR7","TNFAIP3","TNFSF4","TNIP1","TP63","TREM2","TREX1","TSPOAP1","TUBB2B","UBE2L3","UBE3A","UBQLN2","UNC13A","VAC14","VAPB","VCP","VPS13A","ZBTB11","ZC4H2","ZEB2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_GANGRENE":{"collection":"C5:HPO","systematicName":"M38832","pmid":"","exactSource":"HP:0100758","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100758","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GANGRENE","geneSymbols":["ABCA12","ABCC6","AGXT","ALOX12B","ALOXE3","ASPRV1","BCOR","C4A","CAT","CCR1","CD28","CTLA4","CYP4F22","ENPP1","ERAP1","FAS","FIP1L1","HLA-B","HLA-DPA1","HLA-DPB1","HLA-DRB1","IFNGR1","IL10","IL12A","IL12A-AS1","IL12B","IL23R","IRF2BP2","KIF11","KLRC4","LIPN","MEFV","MLX","NABP1","NIPAL4","NPM1","NUMA1","P4HA2","PML","PRKAR1A","PROC","PROS1","PRTN3","PTPN22","RARA","SDR9C7","STAT3","STAT4","STAT5B","SULT2B1","TBL1XR1","TGM1","TLR4","TNFRSF1B","UBAC2","ZBTB16"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CLUBBING_OF_FINGERS":{"collection":"C5:HPO","systematicName":"M38833","pmid":"","exactSource":"HP:0100759","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100759","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CLUBBING_OF_FINGERS","geneSymbols":["ABCA3","ATP11A","BMPR1A","CD55","CFTR","DPP9","DSP","EIF2AK4","FAM13A","FCGR2A","GJB6","HNRNPH1","HPGD","HSPG2","IL21","INTU","JAG1","LRBA","MUC5B","NCKAP1L","NLRP3","PARN","PSMB8","PTEN","PTH1R","RASGRP1","RTEL1","SFTPA1","SFTPA2","SFTPC","SLC34A2","SLC5A6","SLCO2A1","STK11","STN1","TERC","TERT","TGFB1","TLL1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CLUBBING_OF_TOES":{"collection":"C5:HPO","systematicName":"M38834","pmid":"","exactSource":"HP:0100760","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100760","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CLUBBING_OF_TOES","geneSymbols":["BRCA1","BRCA2","BRIP1","ERCC4","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","HNRNPH1","HPGD","MAD2L2","PALB2","PIGL","RAD51","RAD51C","RFWD3","RHBDF2","SLCO2A1","SLX4","SMARCA2","TLL1","UBE2A","UBE2T","XRCC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_VISCERAL_ANGIOMATOSIS":{"collection":"C5:HPO","systematicName":"M41624","pmid":"","exactSource":"HP:0100761","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100761","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VISCERAL_ANGIOMATOSIS","geneSymbols":["ACVRL1","AKT1","ENG","FGFR1","FGFR2","GDF2","GNAQ","IDH1","IDH2","KRAS","PIK3CA","PTEN","PTH1R","SLC26A2","SMAD4","TEK"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_LYMPHATIC_SYSTEM":{"collection":"C5:HPO","systematicName":"M38835","pmid":"","exactSource":"HP:0100763","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100763","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_LYMPHATIC_SYSTEM","geneSymbols":["ABCA1","ABCA12","ABCB11","ABCB4","ABCD3","ABCG8","ABL1","ACD","ACP5","ACVR2B","ADA","ADA2","ADAMTS3","ADAR","AFF4","AGA","AGPAT2","AGR2","AICDA","AIRE","AK2","AKR1D1","AKT1","AKT2","ALAS2","ALDOA","ALG1","ALG14","ALG9","ALMS1","ALPK1","ANK1","ANKRD55","ANTXR2","AP3B1","AP3D1","APOA1","APOC2","APOE","ARPC1B","ARSB","ARVCF","ASAH1","ASXL1","ATM","ATP6AP1","ATP6V1B2","ATP7B","ATP8B1","ATRX","B2M","B4GALT1","B9D1","B9D2","BACH2","BANK1","BAP1","BCL10","BCL11A","BCL2","BCL6","BCOR","BCR","BIRC3","BLK","BLM","BMP2","BMP6","BPGM","BRAF","BRCA1","BRCA2","BSCL2","BTD","BTK","BTNL2","C3","C4A","C4B","CA2","CALR","CARD11","CARD9","CASK","CASP10","CASP8","CASR","CASZ1","CAV1","CAVIN1","CBL","CC2D2A","CCBE1","CCDC103","CCDC115","CCDC32","CCDC39","CCDC40","CCDC47","CCDC65","CCND1","CCNO","CCR1","CD19","CD247","CD27","CD28","CD3D","CD3E","CD40","CD40LG","CD55","CD70","CD81","CDAN1","CDC42","CDIN1","CDK4","CDKN1A","CDKN1B","CDKN2A","CDKN2B","CDKN2C","CDON","CELSR1","CENPF","CEP290","CFAP221","CFAP298","CFAP300","CFAP410","CFAP45","CFAP74","CFC1","CFTR","CHD7","CLCN7","CLDN1","CLPB","COG1","COG4","COG5","COG6","COG7","COL18A1","COMT","COX10","COX4I2","CPLX1","CPOX","CR2","CREBBP","CSF3R","CSPP1","CTBP1","CTC1","CTLA4","CTNNBL1","CTNS","CTSA","CTSK","CXCR4","CYBA","CYBB","CYBC1","CYP7B1","DAXX","DCDC2","DCLRE1C","DDRGK1","DEF6","DGUOK","DHCR24","DHCR7","DIS3L2","DKC1","DLEC1","DLK1","DLL4","DNAAF1","DNAAF11","DNAAF2","DNAAF3","DNAAF4","DNAAF5","DNAAF6","DNAH1","DNAH11","DNAH5","DNAH9","DNAI1","DNAI2","DNAJB13","DNAL1","DNASE1","DNASE1L3","DNASE2","DPM1","DRC1","DYNC2LI1","DZIP1L","EIF2AK4","ELANE","EP300","EPB41","EPB42","EPG5","EPHB4","EPOR","ERAP1","ERBB3","ERCC6","ERCC8","ESCO2","ETS1","EWSR1","EXOC2","F5","FAH","FAM111A","FARSA","FAS","FASLG","FAT4","FCGR2A","FCGR2B","FCGR3B","FCHO1","FERMT3","FGA","FGB","FGFR2","FGFRL1","FGG","FIP1L1","FLT4","FMO3","FOCAD","FOXE1","FOXF1","FOXJ1","FOXP1","FOXP3","FRAS1","FREM2","FUCA1","G6PC3","G6PD","GAA","GABRD","GALE","GALK1","GAS2L2","GAS8","GATA1","GATA2","GBA1","GBE1","GCLC","GDF1","GEMIN4","GIMAP5","GINS1","GLB1","GLIS3","GLRX5","GNB2","GNE","GNPTAB","GNS","GP1BA","GP1BB","GPC3","GPC4","GPD1","GPI","GPIHBP1","GPR35","GSN","GUSB","GYPC","H19","HABP2","HAMP","HAVCR2","HBA1","HBA2","HBB","HBG1","HBG2","HCK","HEXB","HFE","HGSNAT","HIRA","HJV","HK1","HLA-B","HLA-DPB1","HLA-DRB1","HMGA2","HMOX1","HPGD","HRAS","HSD17B4","HSD3B7","HSPG2","HYDIN","HYLS1","IARS1","ICOS","IDH1","IDH2","IDS","IDUA","IFIH1","IFNG","IFNGR1","IFT140","IFT172","IGHG1","IGHG2","IGKC","IKBKG","IKZF3","IL10","IL12A","IL12A-AS1","IL12RB1","IL1RN","IL23R","IL2RA","IL2RB","IL2RG","IL6","IL6ST","IL7R","INPP5E","INPPL1","IRAK1","IRF2BP2","IRF4","IRF5","IRF8","ISG15","ITCH","ITGAM","ITK","JAK1","JAK2","JAK3","JAZF1","JMJD1C","KATNB1","KCNAB2","KCNH1","KCNMA1","KCNN3","KCNN4","KIAA0319L","KIF3B","KIT","KLF1","KLRC4","KMT2D","KPTN","KRAS","LACC1","LAT","LBR","LCAT","LEMD3","LETM1","LIG4","LIPA","LMNA","LPIN2","LPL","LRBA","LRRC56","LSM11","LTBP4","LUZP1","LYST","LYZ","LZTR1","MAGT1","MALT1","MAN2B1","MAP2K2","MC1R","MCIDAS","MCM10","MCM4","MECOM","MECP2","MED12","MEFV","MEG3","MEGF8","MEN1","MGMT","MICU1","MIF","MINPP1","MITF","MKS1","MMP21","MMP23B","MMUT","MNS1","MOGS","MPEG1","MPI","MPIG6B","MPL","MRAS","MS4A1","MST1","MTHFR","MVK","MYC","MYCN","MYD88","MYO5A","MYO5B","MYRF","NABP1","NAE1","NAGLU","NBEAL2","NCF1","NCF2","NCF4","NCKAP1L","NDE1","NDUFS4","NEK10","NEK8","NEK9","NEU1","NF1","NFATC2","NFKB1","NFKB2","NFKBIA","NGLY1","NHLRC2","NHP2","NKX2-6","NLRC4","NLRP1","NLRP12","NLRP3","NME5","NME8","NOD2","NODAL","NOP10","NOTCH1","NOTCH2","NPC1","NPC2","NPHP3","NPM1","NRAS","NSD2","NSMCE3","NUAK2","NUMA1","OAS1","OCLN","ODAD1","ODAD2","ODAD3","ODAD4","OFD1","ORAI1","OSTM1","OTC","OTULIN","P4HA2","PAK2","PALB2","PALLD","PARN","PDCD1","PDGFRA","PDPN","PEPD","PEX13","PEX2","PEX5","PEX7","PHKA2","PHKB","PHKG2","PHYH","PI4KA","PIBF1","PIEZO1","PIGA","PIGM","PIK3C2A","PIK3CA","PIK3CD","PIK3CG","PIK3R1","PKHD1","PKLR","PLEKHM1","PLXND1","PML","PNP","PNPLA2","POLR1B","POLR1C","POLR1D","POLR3A","POMP","POT1","POU6F2","PPARG","PPP2R3C","PRDM16","PRF1","PRIM1","PRKAR1A","PRKCD","PRKCZ","PSAP","PSMB10","PSMB4","PSMB8","PSMB9","PSMG2","PSTPIP1","PTEN","PTH1R","PTPN11","PTPN2","PTPN22","PTPRC","PXK","RAB23","RAB27A","RABL3","RAC2","RAF1","RAG1","RAG2","RARA","RARB","RASA1","RASA2","RASGRP1","RBCK1","RBM8A","RELN","RERE","REST","RFWD3","RHAG","RHCE","RHD","RINT1","RIPK1","RIT1","RMRP","RNASEH2A","RNASEH2B","RNASEH2C","RNF168","RNF6","RNU4ATAC","RNU7-1","RORC","RPGR","RPGRIP1","RPGRIP1L","RPSA","RRAS","RRAS2","RREB1","RSPH1","RSPH3","RSPH4A","RSPH9","RSPRY1","RTEL1","RTL1","RUNX1","SAMD9","SAMD9L","SAMHD1","SAT1","SC5D","SCARB2","SCNN1A","SCNN1B","SCNN1G","SCYL1","SDHD","SEC23B","SEC24C","SEMA4D","SERPINA1","SETBP1","SF3B1","SGSH","SH2B3","SH2D1A","SH3BP2","SKI","SKIC2","SKIC3","SLC17A5","SLC25A13","SLC29A3","SLC2A1","SLC30A10","SLC37A4","SLC39A4","SLC4A1","SLC7A7","SLCO2A1","SMAD2","SMAD4","SMPD1","SNX10","SNX14","SOCS1","SOS1","SOS2","SOX10","SOX18","SP110","SPAG1","SPEF2","SPEN","SPP1","SPRED2","SPTA1","SPTB","SRSF2","STAT1","STAT2","STAT3","STAT4","STAT5B","STEAP3","STIM1","STING1","STK36","STRA6","STX11","STXBP2","SUMF1","SYK","TALDO1","TBL1XR1","TBX1","TBX2","TBXAS1","TCF3","TCF4","TCIRG1","TCOF1","TCTN1","TCTN2","TCTN3","TERC","TERF2IP","TERT","TET2","TFAP2A","TFE3","TGFB1","TGFBR2","THPO","TINF2","TLR4","TLR7","TLR8","TMEM107","TMEM216","TMEM231","TMEM237","TMEM67","TNFAIP3","TNFRSF11A","TNFRSF13B","TNFRSF13C","TNFRSF1A","TNFRSF1B","TNFRSF4","TNFRSF9","TNFSF11","TNFSF12","TNFSF4","TNIP1","TOM1","TP53","TP63","TPI1","TPP2","TRAC","TREX1","TRIM28","TRIP13","TRNT1","TRPV6","TSC1","TSC2","TTC12","TTC26","TTC7A","TULP3","TWIST1","TXNDC15","TYMS","UBAC2","UBE2L3","UBE4B","UBR1","UFD1","UMPS","UNC13D","UNG","UROD","UROS","USB1","USP53","VANGL2","VPS11","VPS13A","VPS33A","VPS33B","VPS45","WAS","WDR1","WDR35","WIPF1","WNT3","WNT7B","WRAP53","WT1","WWOX","XIAP","XK","XRCC4","YARS1","YME1L1","ZAP70","ZBTB16","ZBTB7A","ZEB2","ZFYVE19","ZIC3","ZMYND10","ZNF699","ZNFX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LYMPHANGIOMA":{"collection":"C5:HPO","systematicName":"M38836","pmid":"","exactSource":"HP:0100764","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100764","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LYMPHANGIOMA","geneSymbols":["ADAMTS3","AKT1","CCBE1","COL18A1","FAT4","IDH1","IDH2","PAK2","PTEN","PTH1R"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_TONSILS":{"collection":"C5:HPO","systematicName":"M38837","pmid":"","exactSource":"HP:0100765","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100765","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_TONSILS","geneSymbols":["ABCA1","ADA","AKT2","ARVCF","BLM","BTK","C3","CA2","CD40LG","COMT","CYBC1","DCLRE1C","ELANE","GP1BB","HIRA","IDS","IDUA","IGHG2","IGKC","IL2RA","IL2RG","JMJD1C","MPEG1","MYO5A","PIK3CD","PIK3R1","PTEN","RIPK1","RREB1","RSPRY1","SCNN1A","SCNN1B","SCNN1G","SEC24C","TBX1","UFD1","ZBTB7A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_LYMPHATIC_VESSEL_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M38838","pmid":"","exactSource":"HP:0100766","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100766","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LYMPHATIC_VESSEL_MORPHOLOGY","geneSymbols":["ADAMTS3","CCBE1","CD55","CELSR1","FAT4","FLT4","FOXF1","HRAS","IFNG","MPI","PIEZO1","RASA1","SOX18","TSC1","TSC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_PLACENTA_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M38839","pmid":"","exactSource":"HP:0100767","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100767","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PLACENTA_MORPHOLOGY","geneSymbols":["BCL10","CD46","CDKN1C","CDKN2A","CFH","CFI","CHEK2","CORIN","DLK1","FANCF","FGFR3","FLT1","GLB1","HELLPAR","HMGA2","HSPG2","HYMAI","IGF1","IGF2","KCNQ1","KCNQ1OT1","KIT","LBR","LMNA","MDM2","MEG3","MKS1","MUSK","PHGDH","PLAG1","PLAGL1","RTL1","SKIC3","SPTBN1","STK11","STOX1","TP53","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CHORIOCARCINOMA":{"collection":"C5:HPO","systematicName":"M43586","pmid":"","exactSource":"HP:0100768","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100768","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHORIOCARCINOMA","geneSymbols":["BCL10","CDKN2A","CHEK2","FGFR3","KIT","MDM2","STK11","TP53"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPEROSTOSIS":{"collection":"C5:HPO","systematicName":"M38842","pmid":"","exactSource":"HP:0100774","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100774","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPEROSTOSIS","geneSymbols":["AKT1","ALMS1","AMER1","ANKH","CA2","COL1A1","COX4I2","DDB2","ERCC2","ERCC3","ERCC4","ERCC5","FGFR1","FLNA","GALNT3","GJA1","GNAQ","GNAS","HNRNPA1","HNRNPA2B1","IDUA","KRAS","LEMD3","LRP4","LRP5","MAN2B1","MAP2K1","NOTCH3","OSTM1","PHEX","PIK3CA","PRKAR1A","PTDSS1","PTEN","RPS6KA3","SLC29A3","SLC39A14","SLCO2A1","SMAD4","SOST","SP7","TBXAS1","TCIRG1","TGFB1","THOC2","TNFRSF11A","TNFRSF11B","TNFSF11","VCP","WAS","WIPF1","XPA","XPC"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RECURRENT_PHARYNGITIS":{"collection":"C5:HPO","systematicName":"M38843","pmid":"","exactSource":"HP:0100776","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100776","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_PHARYNGITIS","geneSymbols":["ALG12","HLA-B","HLA-DRB1","NFKB2","P4HA2","PTPN22","SH2D1A","SLC29A3","TNFRSF1A","XIAP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_EXOSTOSES":{"collection":"C5:HPO","systematicName":"M38844","pmid":"","exactSource":"HP:0100777","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100777","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EXOSTOSES","geneSymbols":["ACAN","AKT1","ALX4","ATP7A","CHRNG","COL11A2","COL2A1","EXT1","EXT2","FGFR3","IDH1","IDH2","IPO8","MSX2","PHF21A","PTEN","PTPN11","RAD21","SHOX","TRPS1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_UROGENITAL_SINUS_ANOMALY":{"collection":"C5:HPO","systematicName":"M38845","pmid":"","exactSource":"HP:0100779","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100779","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UROGENITAL_SINUS_ANOMALY","geneSymbols":["AR","CHRM3","CYP11A1","DHX37","DMRT3","GATA4","MAP3K1","MKKS","NR0B1","NR2F2","NR5A1","PPP1R12A","SOX9","SRD5A2","SRY","VAMP7","WT1","WWOX","ZFPM2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CONJUNCTIVAL_HAMARTOMA":{"collection":"C5:HPO","systematicName":"M38846","pmid":"","exactSource":"HP:0100780","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100780","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONJUNCTIVAL_HAMARTOMA","geneSymbols":["AKT1","KLLN","KRT1","KRT10","PIK3CA","PTEN","SDHB","SDHC","SDHD","SEC23B","USF3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_SACROILIAC_JOINT_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M38847","pmid":"","exactSource":"HP:0100781","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100781","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SACROILIAC_JOINT_MORPHOLOGY","geneSymbols":["DMP1","ENPP1","FGFR3","HLA-B","PHEX","TNFRSF1A","TWIST2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BREAST_APLASIA":{"collection":"C5:HPO","systematicName":"M38848","pmid":"","exactSource":"HP:0100783","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100783","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BREAST_APLASIA","geneSymbols":["CDC45","CDC6","CDT1","DYRK1A","ESR1","GMNN","IKBKG","KCTD1","LMNA","ORC1","ORC4","ORC6","PLXND1","REV3L","TBX3","TP63","TWIST2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PERIPHERAL_ARTERIOVENOUS_FISTULA":{"collection":"C5:HPO","systematicName":"M41625","pmid":"","exactSource":"HP:0100784","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100784","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERIPHERAL_ARTERIOVENOUS_FISTULA","geneSymbols":["ACVRL1","AGGF1","COL3A1","ENG","EPHB4","GDF2","RASA1","SMAD4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INSOMNIA":{"collection":"C5:HPO","systematicName":"M38849","pmid":"","exactSource":"HP:0100785","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100785","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INSOMNIA","geneSymbols":["ABCB11","ABCB4","ATP7B","ATP8B1","BAZ1B","BCL7B","BUD23","CLCNKB","CLIP2","CPOX","CRY1","DCTN1","DNAJC30","DNAJC6","EIF4H","ELN","FARS2","FKBP6","GALNT2","GNS","GTF2I","GTF2IRD1","GTF2IRD2","HCRT","HEXB","HLA-DQB1","HLA-DRB1","HMBS","HTRA2","HTT","KAT6A","KMT5B","LIMK1","LRRK2","MEN1","METTL27","MLXIPL","NAGS","NCF1","NOL3","NR1H4","PARK7","PDE2A","PINK1","PODXL","PRKN","PRNP","PRR12","RFC2","SATB1","SLC12A3","SLC25A13","SLC2A3","SNCA","STUB1","STX1A","SYNJ1","TBL2","TMEM270","TUBB3","UCHL1","VPS13C","VPS37D","YY1","ZNF365"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPERSOMNIA":{"collection":"C5:HPO","systematicName":"M38850","pmid":"","exactSource":"HP:0100786","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100786","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERSOMNIA","geneSymbols":["AIP","DUOX2","FOXE1","GPR101","HEXB","NKX2-1","NKX2-5","PAX8","PRNP","PRR12","SLC26A4","TDP2","TRANK1","TSHR"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HERNIA":{"collection":"C5:HPO","systematicName":"M38852","pmid":"","exactSource":"HP:0100790","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100790","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HERNIA","geneSymbols":["AARS1","ABCC8","ABCC9","ABCD4","ABL1","ACTA2","ACTG2","ADAMTS2","ADAMTSL2","ADAT3","ADNP","AEBP1","AGA","AGPAT2","ALDH18A1","ALDH1A2","ALG9","AMER1","AMH","AMHR2","ANAPC7","ANTXR1","AP1S2","APC2","AR","ARF1","ARFGEF2","ARID1A","ARID1B","ARID2","ARPC4","ARSB","ARVCF","ARX","ATAD1","ATP1A2","ATP6V0A2","ATP6V1A","ATP6V1E1","ATP7A","ATRX","AUTS2","B3GAT3","B3GLCT","BAZ1B","BCL11B","BCL7B","BCOR","BCR","BGN","BHLHA9","BMP1","BMPER","BRAT1","BRCA1","BRCA2","BRD4","BRF1","BRIP1","BSCL2","BUB1","BUD23","C1R","C1S","CAMSAP1","CAMTA1","CARS1","CASK","CBS","CC2D2A","CCBE1","CCDC22","CD96","CDC42","CDC42BPB","CDCA7","CDH11","CDKL5","CDKN1C","CEP120","CHAMP1","CHD3","CHD7","CHRNG","CHST14","CHST3","CHUK","CLCN4","CLDN19","CLIP2","COL11A1","COL11A2","COL1A1","COL1A2","COL2A1","COL3A1","COL5A1","COL5A2","COLEC10","COLEC11","COMT","COX11","COX7B","CPLX1","CREBBP","CRKL","CSNK2A1","CTBP1","CTCF","CTNND2","CUL4B","CWC27","DACT1","DDX6","DGCR2","DGCR6","DGCR8","DHCR7","DICER1","DIS3L2","DLK1","DLL3","DMXL2","DNAJB4","DNAJC21","DNAJC30","DNMT3A","DNMT3B","DPF2","DPH1","DPH2","DPP9","DPYSL5","DSE","DUOX2","DUOXA2","DVL1","DVL3","DYNC2H1","DYNC2I1","DYNC2I2","DYRK1A","EED","EFEMP2","EFNB1","EHMT1","EIF4H","ELMO2","ELN","ELOVL4","EN1","EOGT","ERCC2","ERCC3","ERCC4","ERMARD","ESS2","EXT2","EZH2","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FARSB","FAT4","FBLN5","FBN1","FBXW11","FGD1","FGFR1","FGFR2","FIBP","FKBP14","FKBP6","FLI1","FLNA","FLNB","FOCAD","FOXE3","FOXF1","FRAS1","FREM1","FREM2","FTO","FUCA1","FZD2","G6PC3","GAD1","GALNS","GATA4","GATA6","GDF1","GDF11","GJA1","GLB1","GLI3","GLIS3","GLRA1","GLRB","GMNN","GNAO1","GNB2","GNE","GNPAT","GNPTAB","GNS","GON7","GORAB","GP1BB","GPC3","GPC4","GPC6","GPHN","GRIN1","GRIN2B","GRIP1","GRM7","GTF2E2","GTF2H5","GTF2I","GTF2IRD1","GTF2IRD2","GUSB","GZF1","H19","H4C3","HCCS","HDAC4","HDAC8","HELLS","HES7","HESX1","HEY2","HGSNAT","HIC1","HIRA","HIVEP2","HMGA2","HOXD13","HSPG2","HYLS1","HYMAI","IDS","IDUA","IFT122","IFT140","IFT80","IFT81","IGF2","IKBKG","INPP5E","IPO8","IRF6","IRX5","ISL1","IYD","JMJD1C","KCNA1","KCNH1","KCNJ11","KCNJ8","KCNQ1","KCNQ1OT1","KDM3B","KDM5B","KDM6A","KIAA0586","KIF7","KMT2C","KMT2D","KNSTRN","LAGE3","LBR","LDHD","LETM1","LFNG","LHX3","LHX4","LIMK1","LMOD1","LONP1","LOX","LRP2","LRPPRC","LTBP1","LTBP4","MAD2L2","MAF","MAFB","MAMLD1","MAN2B1","MAP1B","MAP3K7","MAPK1","MAPRE2","MASP1","MAT2A","MBTPS1","MBTPS2","MCTP2","MDFIC","MECP2","MED12","MED13L","MED25","MEG3","MEGF8","MEIS2","MESP2","METTL27","MFAP5","MID1","MKS1","MLXIPL","MMP14","MMP2","MN1","MPLKIP","MSX1","MTFMT","MTHFR","MTOR","MYH11","MYH3","MYLK","MYRF","NAA10","NALCN","NAT8L","NCF1","NDUFA8","NDUFAF5","NDUFB11","NECTIN1","NEDD4L","NEK9","NELFA","NEU1","NEUROD2","NFIA","NFIX","NIPBL","NKX2-5","NLRP3","NOTCH1","NOTCH2","NOTCH3","NPHP3","NR2F2","NSD1","NSD2","NSDHL","NUAK2","NUP107","NUP133","NXN","OCLN","OCRL","ODC1","OFD1","OSGEP","P3H1","PACS1","PAFAH1B1","PALB2","PAX8","PBX1","PCNA","PHGDH","PI4KA","PIEZO2","PIGG","PIGL","PIGN","PIGP","PIGQ","PIGS","PIGW","PIGY","PIK3CA","PIK3CD","PIK3R1","PLAG1","PLAGL1","PLD1","PLOD1","PLOD2","PNKP","POGZ","POLR2A","POLR3GL","PORCN","POU1F1","PPM1D","PPP1R12A","PPP2CA","PPP2R1A","PPP2R3C","PRDM5","PRKG1","PRKG2","PROP1","PRR12","PTCH1","PTDSS1","PUF60","PYCR1","RAB23","RAB3GAP2","RAC1","RAD21","RAD51","RAD51C","RARB","RFC2","RFWD3","RFX7","RIC1","RIN2","RIPK4","RIPPLY2","RLIM","RNF113A","RNF13","RNF2","ROR2","RPGRIP1L","RPL10","RPS26","RPS28","RPS6KA3","RREB1","RSPO2","RTL1","SALL1","SATB2","SCN1B","SCN2A","SEC24C","SEC31A","SEMA5A","SERPINH1","SET","SETBP1","SETD2","SF3B4","SGSH","SH2B1","SH3PXD2B","SHANK3","SHOC2","SHPK","SIK1","SIN3A","SKI","SKIC2","SKIC3","SLC10A7","SLC25A22","SLC25A24","SLC26A2","SLC29A3","SLC2A10","SLC32A1","SLC35C1","SLC35D1","SLC37A4","SLC5A5","SLC5A6","SLC6A5","SLX4","SMAD2","SMAD3","SMAD4","SMARCA2","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SMC1A","SMC3","SMCHD1","SNIP1","SOX11","SOX4","SOX6","SPECC1L","SRCAP","STAG2","STRA6","STX1A","SUZ12","TARS1","TASP1","TBL2","TBX1","TBX3","TCF4","TENT5A","TFE3","TG","TGDS","TGFB2","TGFB3","TGFBR1","TGFBR2","THRA","THSD4","TMCO1","TMEM107","TMEM216","TMEM270","TMEM67","TMEM70","TMEM94","TMTC3","TNRC6B","TNXB","TOR1A","TP53RK","TP63","TPO","TPRKB","TRAF7","TRAIP","TRIM8","TRIP11","TRPV6","TRRAP","TSHB","TSHR","TTC26","TTC7A","TUBB","TWIST2","TXNL4A","UBA1","UBE2T","UFD1","VANGL2","VPS33A","VPS35L","VPS37D","WASHC5","WDR19","WDR35","WDR4","WDR73","WLS","WNT3","WNT4","WNT5A","WNT7B","WT1","XRCC2","XRCC4","YRDC","YWHAE","ZBTB24","ZBTB7A","ZEB1","ZFP57","ZFPM2","ZIC3","ZNF469","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ACANTHOLYSIS":{"collection":"C5:HPO","systematicName":"M38853","pmid":"","exactSource":"HP:0100792","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100792","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACANTHOLYSIS","geneSymbols":["ATP2A2","ATP2C1","CAST","DSG1","DSP","HLA-B","IKZF1","JUP","KRT2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ORCHITIS":{"collection":"C5:HPO","systematicName":"M38854","pmid":"","exactSource":"HP:0100796","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100796","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ORCHITIS","geneSymbols":["C4A","CCR1","ERAP1","FAS","HLA-B","IFNGR1","IL10","IL12A","IL12A-AS1","IL23R","KLRC4","MEFV","STAT4","TLR4","TNFRSF1A","UBAC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_TOENAIL_DYSPLASIA":{"collection":"C5:HPO","systematicName":"M38855","pmid":"","exactSource":"HP:0100797","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100797","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TOENAIL_DYSPLASIA","geneSymbols":["ANGPT2","ATP6V1B2","BHLHA9","BMP2","EOGT","EVC","EVC2","FLT4","GJC2","LMX1B","PIEZO1","SHANK3","TAF1","TBC1D24","TP63","VEGFC"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FINGERNAIL_DYSPLASIA":{"collection":"C5:HPO","systematicName":"M38856","pmid":"","exactSource":"HP:0100798","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100798","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FINGERNAIL_DYSPLASIA","geneSymbols":["DVL1","DVL3","FZD2","IL11RA","KRT16","KRT17","KRT6A","KRT6B","LMX1B","LRP4","NXN","ROR2","SOST","TFAP2A","TP63","WNT5A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PANCREATIC_APLASIA":{"collection":"C5:HPO","systematicName":"M46402","pmid":"","exactSource":"HP:0100801","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100801","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PANCREATIC_APLASIA","geneSymbols":["CNOT1","GATA6","HNF1B","LHX1","PDX1","PTF1A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_PERIUNGUAL_REGION":{"collection":"C5:HPO","systematicName":"M38858","pmid":"","exactSource":"HP:0100803","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100803","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_PERIUNGUAL_REGION","geneSymbols":["ADAM17","BLM","CEBPE","IFNG","IL6ST","KIF1A","KRT16","KRT17","KRT6A","KRT6B","LAMA3","LAMB3","LAMC2","MBTPS2","NFKB2","RETREG1","SCN9A","SLC39A4","STAT3","STING1","TSC1","TSC2","WNK1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SEPSIS":{"collection":"C5:HPO","systematicName":"M38859","pmid":"","exactSource":"HP:0100806","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100806","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEPSIS","geneSymbols":["ABCA12","ABCA3","ABCD1","ACTG2","ADA","AK2","ALG1","ALG12","ALOX12B","ALOXE3","AP1S3","APC","ASPRV1","ATP7A","BLNK","BTK","C1QB","CD27","CD40LG","CD79A","CD79B","CHD7","COG4","COX8A","CTCF","CTLA4","CTNNB1","CXCR4","CYBA","CYBB","CYBC1","CYP4F22","DCLRE1C","DEF6","DNAJC21","ECE1","EDN3","EDNRB","EFL1","ELANE","ERBB2","ERBB3","FCGR3B","FERMT3","FOCAD","FOXP3","G6PC3","GALM","GALT","GDNF","GJB2","GJB6","HLA-B","HMOX1","HYOU1","IDH1","IGHG2","IGHM","IGKC","IGLL1","IKZF1","IL2RG","IL36RN","IL7R","KRT14","KRT5","LAMA3","LAMB3","LAMC2","LIG4","LIPN","LMOD1","LRBA","LRRC8A","MMUT","MNX1","MRTFA","MYD88","MYH11","MYLK","NCF1","NCF2","NCF4","NFKB2","NIPAL4","NRTN","PEX19","PGM3","PIK3R1","PKP1","RAC2","RAG1","RAG2","RET","RMRP","RNF13","SAMD9","SASH3","SBDS","SDR9C7","SEMA3C","SEMA3D","SERAC1","SFTPB","SFTPC","SLC39A7","SMARCD2","SMO","SPI1","SPINK5","SREBF1","SRP54","STK4","SULT2B1","TCF3","TFRC","TGM1","TREX1","VPS33A","WAS","WIPF1","YARS1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LONG_FINGERS":{"collection":"C5:HPO","systematicName":"M38860","pmid":"","exactSource":"HP:0100807","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100807","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LONG_FINGERS","geneSymbols":["ABL1","ACSL4","ACTA2","ACTG2","ADAMTSL1","ADNP","AEBP1","AIP","ALG12","ALG14","ALG3","AMER1","AMMECR1","ARVCF","ARX","ASPH","ASXL1","ASXL3","ATP2B1","ATRX","B3GALT6","B4GALT7","BCORL1","BCR","BGN","BIN1","BMP1","BMP15","BNC1","BRF1","C1R","CBS","CCDC88A","CCNK","CDC42","CDC42BPB","CDKL5","CHD4","CHRNG","CHST14","CIC","CLCN3","CLP1","CNOT1","CNOT3","CNTN1","COG7","COL11A1","COL12A1","COL1A2","COL2A1","COL3A1","COMT","COPB1","CPLX1","CPT2","CRKL","CRLF1","CTBP1","CTSC","CYP26B1","DDX6","DHX30","DLG4","DLX5","DOCK3","DPAGT1","DPH5","DPYSL5","DSE","DYRK1A","EBF3","EBP","ECE1","EED","EFEMP2","EHMT1","EIF2S3","ELN","EXOC6B","EXOSC5","FARSA","FBLN5","FBN1","FBN2","FBXO11","FGFR2","FGFR3","FIG4","FLNA","FOXE3","FSHR","GABRA3","GATA2","GATA4","GATAD2B","GJA1","GJB3","GJB4","GNAI1","GNB1","GNB2","GP1BB","GPR101","H3-3A","H3-3B","H4C5","HDAC8","HEATR3","HECTD4","HERC1","HEY2","HIRA","HIVEP2","HNRNPH1","HNRNPH2","HUWE1","IARS2","INPPL1","IPO8","IRX5","JMJD1C","KANSL1","KATNB1","KCNE5","KDM1A","KDM5C","KDSR","KIF1A","KIF7","KIFBP","KMT2A","KMT2C","KMT2E","LAGE3","LARS1","LAS1L","LETM1","LMNB2","LOX","MAF","MAGEL2","MAP1B","MAP3K7","MAPK1","MAPRE2","MAT2A","MED12","MED12L","MFAP5","MRPS22","MSH4","MTHFS","MTM1","MYH11","MYLK","MYMK","MYOD1","NAA10","NALCN","NARS1","NELFA","NFIX","NKAP","NPR2","NPR3","NR2F1","NR5A1","NSD2","NSDHL","NUP107","ODC1","OSGEP","OTUD6B","PAPPA2","PAX1","PCGF2","PEPD","PHF21A","PHF6","PHF8","PHGDH","PHIP","PIEZO2","PIGA","PIGB","PIGG","PIGN","PIGV","PLAA","PLOD1","PMM2","POLR3A","POLR3H","POR","PQBP1","PRDM5","PRIM1","PRKAR1B","PRKG1","PRR12","PSMB8","PSMC3IP","PTCH1","PTCH2","PTRH2","PUF60","PUM1","PYCR2","RAB11B","RECQL","RETREG1","RFX7","RNF13","RPL10","RPS6KA3","RREB1","RUNX2","RUSC2","RYR1","SATB2","SCARF2","SCN9A","SEC24C","SETD1B","SH2B1","SIM1","SIN3A","SKI","SLC12A6","SLC25A12","SLC25A46","SLC2A10","SLC39A13","SMAD2","SMAD3","SMAD4","SMARCA2","SMARCAD1","SMARCE1","SMC1A","SMS","SNIP1","SON","SOX5","SOX6","SPEG","SPEN","SPIDR","SPOP","STUB1","SUFU","SUPT16H","SVBP","TBR1","TBX1","TBX4","TCF20","TCF4","TELO2","TFE3","TGFB2","TGFB3","TGFBR1","TGFBR2","THSD4","TMCO1","TMEM94","TNNT3","TP53RK","TPR","TRAPPC9","TRIO","TRPM3","TTN","TUBB","TWIST1","UBE3B","UFD1","UNC80","UPF3B","USP9X","VAC14","VPS13B","WASF1","WLS","WNK1","XYLT2","YRDC","YY1","ZDHHC9","ZEB2","ZMIZ1","ZMYM2","ZNF469","ZNHIT3","ZSWIM7"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HALITOSIS":{"collection":"C5:HPO","systematicName":"M41627","pmid":"","exactSource":"HP:0100812","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100812","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HALITOSIS","geneSymbols":["CFTR","MAT1A","SCNN1A","SCNN1B","SCNN1G","SELENBP1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BLUE_NEVUS":{"collection":"C5:HPO","systematicName":"M41628","pmid":"","exactSource":"HP:0100814","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100814","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BLUE_NEVUS","geneSymbols":["ARL6IP6","CAMK2A","FOCAD","GNA11","HEXB","HRAS","PDE11A","PRKAR1A","PUS3","TASP1","TYRP1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RENOVASCULAR_HYPERTENSION":{"collection":"C5:HPO","systematicName":"M38862","pmid":"","exactSource":"HP:0100817","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100817","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RENOVASCULAR_HYPERTENSION","geneSymbols":["ABCC6","BAZ1B","BCL7B","BUD23","CLIP2","COL3A1","DNAJC30","EIF4H","ELN","FIG4","FKBP6","GTF2I","GTF2IRD1","GTF2IRD2","LIMK1","METTL27","MLXIPL","NCF1","NF1","RFC2","STAT1","STX1A","TBL2","TMEM270","TOM1","VAC14","VPS37D","XYLT1","XYLT2","YY1AP1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LONG_THORAX":{"collection":"C5:HPO","systematicName":"M38863","pmid":"","exactSource":"HP:0100818","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100818","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LONG_THORAX","geneSymbols":["BCOR","INTU","KAT6A","NAA10","PCGF2","PRKACA","PRKACB","TRPV4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INTESTINAL_FISTULA":{"collection":"C5:HPO","systematicName":"M38864","pmid":"","exactSource":"HP:0100819","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100819","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTESTINAL_FISTULA","geneSymbols":["B3GLCT","CCNQ","CD3G","CDK8","DACT1","DDB1","DOCK2","ELF4","FREM1","IL10RB","JAK3","KDM6A","KIF7","KMT2D","LONP1","MID1","MKKS","MNX1","NCF4","PI4KA","PIGN","PKP1","POLR1B","POLR1C","POLR1D","RECQL4","RNU12","SALL1","SALL4","SPINT2","SYK","TCOF1","TCTN3","TGFB1","UBR1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_GLOMERULOPATHY":{"collection":"C5:HPO","systematicName":"M38865","pmid":"","exactSource":"HP:0100820","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100820","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GLOMERULOPATHY","geneSymbols":["ACSL4","AMMECR1","APOE","C4A","CCR1","CTLA4","DNASE1L3","ELP1","ERAP1","FAS","FN1","FOXC2","GLA","HLA-B","HLA-DPA1","HLA-DPB1","HNF1B","IFNGR1","IL10","IL12A","IL12A-AS1","IL23R","KCNE5","KLRC4","LMNA","LMNB2","LMX1B","LPIN2","MEFV","MMACHC","MT-TE","MT-TK","MT-TL1","MTRR","OCRL","PRTN3","PTPN22","SCARB2","STAT4","TLR4","UBAC2","WAS","WIPF1","WT1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CHEILITIS":{"collection":"C5:HPO","systematicName":"M38867","pmid":"","exactSource":"HP:0100825","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100825","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHEILITIS","geneSymbols":["AMN","AP1S3","BANK1","BLK","BLM","C4A","C4B","CAST","CLEC7A","CR2","CTLA4","CUBN","DNASE1","DSC3","ETS1","FCGR2B","FCGR3B","FERMT1","GJB2","GJB6","HLA-DRB1","IGHG1","IL10","IL17F","IL17RA","IL17RC","IL36RN","IRAK1","IRF5","ITGAM","JAZF1","KIAA0319L","KRT16","KRT17","KRT6A","KRT6B","MALT1","MBTPS2","MECP2","OCRL","PDCD1","PERP","PKP1","PTPN22","PXK","SLC39A4","SLC46A1","SPP1","SREBF1","STAT4","TLR7","TNFAIP3","TNFSF4","TNIP1","TRAF3IP2","TREX1","UBE2L3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LYMPHOCYTOSIS":{"collection":"C5:HPO","systematicName":"M38868","pmid":"","exactSource":"HP:0100827","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100827","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LYMPHOCYTOSIS","geneSymbols":["ARPC1B","BTNL2","CARD11","CASP10","EIF2AK3","ELF4","FAS","FASLG","FOCAD","HLA-DRB1","IKBKG","IL7R","KRAS","LMNB2","NCKAP1L","NFKBIA","NRAS","PRKCD","PTPRC","RASGRP1","REL","RNASEH2B","SH2D1A","XIAP","ZAP70"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_GALACTORRHEA":{"collection":"C5:HPO","systematicName":"M38869","pmid":"","exactSource":"HP:0100829","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100829","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GALACTORRHEA","geneSymbols":["AIP","CDH23","CDKN1A","CDKN1B","CDKN2B","CDKN2C","GPR101","IRF4","MEN1","PRLR"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ROUND_EAR":{"collection":"C5:HPO","systematicName":"M38870","pmid":"","exactSource":"HP:0100830","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100830","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ROUND_EAR","geneSymbols":["CEP57","MYH3","NALCN","PSMC3","TNNI2","TNNT3","TPM2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_VITREOUS_FLOATERS":{"collection":"C5:HPO","systematicName":"M43587","pmid":"","exactSource":"HP:0100832","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100832","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VITREOUS_FLOATERS","geneSymbols":["ARL3","ARSK","CTNNB1","FZD4","HLA-A","LRP5","NDP","P3H2","PAK2","TSPAN12","TTR","ZNF408"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NEOPLASM_OF_THE_SMALL_INTESTINE":{"collection":"C5:HPO","systematicName":"M38872","pmid":"","exactSource":"HP:0100833","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100833","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_SMALL_INTESTINE","geneSymbols":["AAGAB","APC","BMPR1A","COL14A1","GREM1","KIT","LMNA","MLH1","MSH2","NTHL1","PDGFRA","SDHA","SDHB","SDHC","SDHD","SMAD4","STK11","WRN"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NEOPLASM_OF_THE_LARGE_INTESTINE":{"collection":"C5:HPO","systematicName":"M38873","pmid":"","exactSource":"HP:0100834","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100834","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_LARGE_INTESTINE","geneSymbols":["AAGAB","ADA2","AKT1","APC","AURKA","AXIN2","BAX","BLM","BMPR1A","BRAF","BRCA1","BRCA2","BUB1","BUB1B","BUB3","C1S","CCND1","CDKN2A","CEP57","CHEK2","COL14A1","CTNNB1","DCC","DICER1","DLC1","DOCK8","ENG","EP300","EPCAM","FAN1","FGFR3","FLCN","FOXE1","GATA1","GPR35","GREM1","HABP2","HEATR3","KEAP1","KIT","KLLN","KRAS","MAD1L1","MBD4","MCC","MDM2","MINPP1","MLH1","MLH3","MSH2","MSH3","MSH6","MST1","MUTYH","NRAS","NTHL1","PALB2","PALLD","PDE11A","PDGFRA","PDGFRL","PIK3CA","PLA2G2A","PMS1","PMS2","POLD1","POLE","PRKAR1A","PTEN","PTPN12","PTPRJ","RABL3","RAD54B","RNF43","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS7","SDHA","SDHB","SDHC","SDHD","SEC23B","SEMA4A","SEMA4D","SH3KBP1","SMAD4","SMAD7","SRC","STK11","TCF4","TGFBR2","TLR2","TP53","TRIP13","TSR2","USF3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BENIGN_NEOPLASM_OF_THE_CENTRAL_NERVOUS_SYSTEM":{"collection":"C5:HPO","systematicName":"M38874","pmid":"","exactSource":"HP:0100835","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100835","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BENIGN_NEOPLASM_OF_THE_CENTRAL_NERVOUS_SYSTEM","geneSymbols":["ADAMTS3","AKT1","ALX1","ALX3","ARMC5","BAP1","BMPR1A","CCBE1","CCM2","CCND1","CDKN1A","CDKN1B","CDKN2B","CDKN2C","CHEK2","COQ6","CPLANE1","CREBBP","DLST","EIF3F","EP300","EPCAM","FAM149B1","FAN1","FAT4","FGFR1","FH","GCDH","GLI3","GNAS","IFNG","KIAA0753","KIF1B","KIF7","KLLN","KRAS","KRIT1","LMNA","LZTR1","MAN2C1","MAX","MBD4","MDH2","MEN1","MLH1","MLH3","MN1","MSH2","MSH6","NF1","NF2","NOTCH3","NRAS","NTHL1","OCRL","OFD1","PDCD10","PDE6D","PDGFB","PDGFRB","PIK3CA","PMS1","PMS2","PTEN","RET","RPS20","SDHA","SDHAF2","SDHB","SDHC","SDHD","SEC23B","SEMA4A","SIX6","SLC25A11","SMARCB1","SMARCE1","SMO","SOX2","SUFU","TCTN3","TERT","TGFBR2","TIAM1","TMEM127","TMEM216","TOPORS","TP53","TRAF7","TSC1","TSC2","USF3","VHL","VPS16","WDPCP","WRN","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MALIGNANT_NEOPLASM_OF_THE_CENTRAL_NERVOUS_SYSTEM":{"collection":"C5:HPO","systematicName":"M38875","pmid":"","exactSource":"HP:0100836","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100836","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MALIGNANT_NEOPLASM_OF_THE_CENTRAL_NERVOUS_SYSTEM","geneSymbols":["APC","APC2","ASCL1","ASXL1","BDNF","BMPR1A","BRAF","BRCA2","BRD4","CASZ1","CDKN1A","CDKN1B","CDKN2A","CDKN2B","CDKN2C","CHEK2","CTNNB1","DICER1","EDN3","ELP1","EPCAM","ERBB2","FAN1","FGFR1","GABRD","GDNF","GPC3","GPC4","GPR161","HSPG2","IDH1","IDH2","IFNG","KCNAB2","KEAP1","KIF1B","KRAS","LBX1","LUZP1","MAPRE2","MDM2","MEN1","MLH1","MLH3","MMP23B","MSH2","MSH3","MSH6","MYO1H","NBN","NF1","NF2","NSD1","NUTM1","PALB2","PDPN","PHOX2B","PIK3CA","PMS1","PMS2","POT1","PRDM16","PRKCZ","PTCH1","PTCH2","PTEN","PTPN11","RAF1","RELA","RERE","RET","RPS20","RUNX1","SDHB","SEMA4A","SETBP1","SETD2","SKI","SMARCB1","SMO","SPEN","SPRED1","SUFU","TGFBR2","TP53","TSC1","TSC2","TUBB","UBE4B","YY1","ZFTA"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RECURRENT_CUTANEOUS_ABSCESS_FORMATION":{"collection":"C5:HPO","systematicName":"M38876","pmid":"","exactSource":"HP:0100838","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100838","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_CUTANEOUS_ABSCESS_FORMATION","geneSymbols":["BTK","CARMIL2","CTSC","GJB2","GJB6","LCP2","PSEN1","PSENEN","UBE2A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APLASIA_HYPOPLASIA_OF_THE_EYEBROW":{"collection":"C5:HPO","systematicName":"M38877","pmid":"","exactSource":"HP:0100840","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100840","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_EYEBROW","geneSymbols":["AARS1","AASS","ABCA12","ADA","AEBP1","AHSG","ALOX12B","ALOXE3","ALX1","ALX4","ANAPC1","ANTXR1","APCDD1","ASPRV1","ASXL3","ATAD3A","ATP1A2","ATP1A3","ATR","AXIN2","B4GALT7","BANF1","BCL11B","BRAF","BRF1","CACNA1A","CCNK","CDC42","CDC42BPB","CDC45","CDH3","CEP120","CHD7","CHST3","CLDN1","COG6","COL11A1","COL3A1","CRIPT","CWC27","CYP4F22","DCAF17","DCLRE1C","DDX3X","DHX30","DLX4","DNAJC21","DOLK","DPH1","DPH2","DPH5","DSC3","DSG4","DSP","EBP","EDA","EDA2R","EDAR","EDARADD","EPS8L3","FAM111B","FIG4","FLI1","FRAS1","GAD1","GJA1","GJB2","GJB6","GNPTAB","GTPBP2","H3-3A","H4C5","HBA1","HBA2","HDAC4","HECW2","HEPHL1","HERC1","HNRNPK","HR","HRURF","IL2RG","IL7R","IRX5","ITGA3","ITGB6","JARID2","JUP","KANK2","KAT5","KAT6A","KDF1","KDM1A","KDM4B","KDM6A","KIFBP","KMT2D","KMT5B","KRAS","KREMEN1","KRT17","KRT25","KRT71","KRT74","KRT85","LARP7","LIG4","LIPH","LIPN","LMBRD2","LMNA","LPAR6","LRP1","LSS","LTV1","LZTR1","MAN1B1","MAP2K1","MAP2K2","MAPKAPK5","MARS1","MBTPS2","MED12","MED12L","MED25","MEGF8","MEIS2","MESD","MTX2","NAA10","NECTIN1","NF1","NFIB","NIPAL4","NSD1","NSUN2","NUP188","ODC1","OTX2","PCNT","PEX1","PEX6","PI4KA","PIGK","PIGL","PKP1","PLXNA1","POLR3A","PPP1CB","PPP2R3C","PQBP1","PRRX1","PURA","RAF1","RAG1","RAG2","RBL2","RECQL4","RHOBTB2","RIN2","RIPK4","RMRP","RNF113A","RNU12","RNU4ATAC","RPL21","RPS28","SDR9C7","SF3B4","SHOC2","SIAH1","SLC1A3","SMARCA2","SMS","SNRPE","SON","SOS1","SOS2","SOX18","SPINK5","SPOP","SPRED2","ST14","STAG1","STAG2","SULT2B1","TBCD","TBX3","TCF4","TGDS","TGM1","THUMPD1","TMEM147","TP63","TRPS1","TTC7A","TWIST2","UBE3B","UROS","USB1","VAC14","WDR26","WDR35","WLS","WNT10A","WNT10B","YY1","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SEPTO_OPTIC_DYSPLASIA":{"collection":"C5:HPO","systematicName":"M38878","pmid":"","exactSource":"HP:0100842","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100842","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEPTO_OPTIC_DYSPLASIA","geneSymbols":["ARNT2","CDC42BPB","CDON","FGFR1","FOXA2","GLI2","GPR161","HESX1","LHX4","OTX2","POU1F1","PROKR2","PROP1","ROBO1","RSPO2","SOX2","SOX3","STAG2","WDR11","WNT3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NEOPLASM_OF_THE_MALE_EXTERNAL_GENITALIA":{"collection":"C5:HPO","systematicName":"M38880","pmid":"","exactSource":"HP:0100848","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100848","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_MALE_EXTERNAL_GENITALIA","geneSymbols":["AKT1","AR","CDC73","CDKN1B","CDKN2A","CHEK2","CYP11B1","DHX37","DICER1","DMRT3","EWSR1","FLI1","GATA4","IGF2","KANSL1","KEAP1","MAP3K1","MC2R","MDM2","MRAP","NNT","NR0B1","NR5A1","PDE11A","PRKAR1A","PTEN","SOX9","SRY","STAR","STK11","STS","TP53","TXNRD2","VAMP7","WT1","WWOX","ZFPM2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_EMOTION_AFFECT_BEHAVIOR":{"collection":"C5:HPO","systematicName":"M38881","pmid":"","exactSource":"HP:0100851","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100851","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_EMOTION_AFFECT_BEHAVIOR","geneSymbols":["ABCA12","ABCA2","ABCC6","ABCC8","ACAT1","ACOX1","ACTN4","ADAR","ADAT3","ADNP","ADSL","AFF2","AGO1","AGO2","AIFM1","AIP","AKT1","ALAD","ALDH4A1","ALDH5A1","ALDH7A1","ALG13","ALG14","ALG9","ALPL","AMPD2","AMT","ANG","ANK3","ANKFY1","ANLN","ANXA11","AP1G1","AP1S2","AP2M1","APC2","APOL1","AQP2","ARG1","ARHGAP24","ARHGDIA","ARID1A","ARID1B","ARID2","ARMC5","ARPC4","ARSA","ARV1","ARX","ASAH1","ASH1L","ASL","ASNS","ASPA","ASS1","ASXL1","ASXL3","ATG7","ATP10A","ATP13A2","ATP1A1","ATP1A2","ATP1A3","ATP5F1A","ATP6V0A1","ATP7B","ATP9A","ATRX","ATXN1","ATXN10","ATXN2","AUH","AVP","AVPR2","B4GALNT1","BAP1","BCAP31","BCL11A","BCOR","BCORL1","BCS1L","BMP6","BMPR1A","BPTF","BRAF","BRF1","BSND","C12orf4","C12orf57","C19orf12","C4A","C9orf72","CABP4","CACNA1A","CACNB4","CAMK2A","CAMK2B","CAMK2G","CAMTA1","CARS1","CASK","CASR","CASZ1","CCNF","CCR1","CD2AP","CDC42BPB","CDH2","CDH23","CDKL5","CDKN2A","CDON","CEP104","CEP152","CEP290","CEP85L","CFAP410","CHCHD10","CHD2","CHD5","CHD7","CHD8","CHKA","CHMP2B","CHRNA2","CHRNA4","CHRNB2","CILK1","CLCN2","CLCN3","CLCN4","CLCNKA","CLCNKB","CLN3","CLN5","CLN8","CLP1","CLTCL1","CLTRN","CNP","CNTNAP2","COG4","COL4A3","COQ2","COQ8B","CP","CPS1","CRB1","CRB2","CRBN","CREBBP","CRH","CTNNB1","CTSF","CUL4B","CUX2","CYP27A1","CYP27B1","CYP2R1","DAAM2","DAO","DARS1","DCDC2","DCHS1","DCTN1","DCX","DDC","DDX3X","DEAF1","DEPDC5","DGCR2","DGCR6","DGCR8","DHCR7","DISP1","DLL1","DMXL2","DNAJC13","DNAJC6","DNM1","DNM1L","DNMT1","DNMT3A","DPAGT1","DPF2","DPYD","DPYSL5","DYNC1I2","DYRK1A","EBP","ECM1","EEF1A2","EFHC1","EHMT1","EIF2B1","EIF2S3","EIF4G1","ELP1","ELP2","EMP2","ENPP1","ENTPD1","EP300","EPCAM","EPHA4","EPM2A","ERAP1","ERBB4","ESS2","EXOC8","EXOSC8","FAN1","FAS","FAT4","FBP1","FBP2","FBXL3","FBXW11","FDFT1","FGF14","FGF8","FGFR1","FIG4","FLII","FMO3","FMR1","FOCAD","FOXG1","FOXH1","FOXP1","FOXRED1","FRMPD4","FRRS1L","FTL","FTSJ1","FUS","GABBR2","GABRA1","GABRB3","GABRD","GABRG2","GALC","GAMT","GAPVD1","GAS1","GATAD2B","GBA1","GCH1","GDAP2","GFAP","GIGYF2","GJA5","GJA8","GJB2","GLDC","GLE1","GLI2","GLRX5","GLS","GLT8D1","GM2A","GNA11","GNAO1","GNAS","GNB1","GNB2","GNS","GRIA1","GRIA2","GRIA3","GRIA4","GRIK2","GRIN1","GRIN2A","GRM7","GRN","GUCY2D","GYS2","H4C5","HBB","HDAC4","HDAC8","HDC","HECTD4","HECW2","HEPHL1","HERC2","HEXA","HFE","HIBCH","HIKESHI","HIVEP2","HLA-B","HLA-DQB1","HLA-DRB1","HLCS","HMGCL","HNRNPA1","HNRNPH2","HPRT1","HSD17B10","HSPG2","HTR2A","HTRA1","HTRA2","HTT","IBA57","IFIH1","IFNG","IFNGR1","IL10","IL12A","IL12A-AS1","IL23R","IMPA1","INF2","INPP5E","IQSEC1","IQSEC2","ITPA","JARID2","JPH3","JRK","KANSL1","KARS1","KAT5","KCNA1","KCNAB2","KCNQ3","KCNT1","KDM3B","KDM4B","KDM5B","KDM5C","KIF11","KIF15","KIF5C","KLRC4","KMT2A","KMT2C","KMT2E","KMT5B","KNL1","KPTN","KRAS","LARP7","LAS1L","LEPR","LINGO1","LINS1","LMAN2L","LRRK2","LSM11","LUZP1","MAB21L1","MADD","MAGEL2","MAGI2","MAN1B1","MANBA","MAOA","MAPK1","MAPK10","MAPK8IP3","MAPT","MATR3","MBD5","MECP2","MED12","MED12L","MED13L","MED23","MED25","MEFV","METTL5","MGAT2","MIR17HG","MKRN3","MLH1","MLH3","MMP23B","MOCS2","MSH2","MSH6","MT-ATP6","MTHFS","MTPAP","MYO1E","MYT1L","NAA10","NAA20","NACC1","NAGLU","NAGS","NALCN","NAT8L","NAXD","NAXE","NBEA","NDE1","NDN","NDP","NDST1","NDUFA2","NDUFA6","NDUFAF4","NDUFS1","NEFH","NEK1","NEUROD2","NEXMIF","NF2","NFASC","NFIB","NFIX","NHLRC1","NHLRC2","NIPA1","NIPA2","NIPBL","NKAP","NMNAT1","NODAL","NONO","NOTCH3","NPAP1","NPHS1","NPHS2","NR3C1","NRCAM","NSD1","NSD2","NSDHL","NTNG2","NTRK1","NUP107","NUP133","NUP160","NUP205","NUP37","NUP85","NUP93","OCA2","OCRL","ODC1","OPHN1","OPTN","OSTM1","OTC","PACS1","PAH","PAK3","PANK2","PARK7","PAX2","PCBD1","PCDH19","PDCD1","PDCD6IP","PDE11A","PDE2A","PDGFB","PDPN","PERCC1","PFN1","PGK1","PGM2L1","PHGDH","PHIP","PIDD1","PIGF","PIGH","PIGL","PIGP","PIGQ","PIGY","PIK3CA","PINK1","PLA2G6","PLCE1","PLCH1","PLP1","PLPBP","PMS1","PMS2","PNKP","PODXL","POGZ","POLG","PON1","PON2","PON3","POU4F1","PPARGC1A","PPP2CA","PPP2R5D","PPT1","PRDM16","PRF1","PRKACA","PRKAR1A","PRKAR1B","PRKCZ","PRKN","PRNP","PRODH","PRPH","PRRT2","PSAP","PSEN1","PSMB1","PSMD12","PTCH1","PTCHD1","PTH","PTPRO","PTS","PUF60","PUS3","PUS7","PWAR1","PWRN1","PYCR2","PYGL","QDPR","RAB11B","RAI1","RBBP8","RBL2","RERE","RFX7","RHOBTB2","RLIM","RNASEH2A","RNASEH2B","RNASEH2C","RNF125","RNF13","RNF168","RNU7-1","RORB","RPE65","RPL10","RPS20","RPS6KA3","RTTN","RUSC2","SAMHD1","SARDH","SARS1","SASS6","SATB2","SCN1A","SCN1B","SCN2A","SDHA","SDHAF1","SDHB","SDHD","SEMA4A","SEPSECS","SETBP1","SETD1A","SETD2","SH2B1","SHANK3","SHH","SHMT2","SHQ1","SIK1","SIM1","SIN3A","SIX3","SKI","SLC16A2","SLC19A3","SLC1A2","SLC1A3","SLC1A4","SLC25A1","SLC25A13","SLC25A19","SLC25A20","SLC25A22","SLC2A1","SLC2A3","SLC32A1","SLC39A14","SLC39A4","SLC46A1","SLC52A2","SLC6A1","SLC6A17","SLC6A19","SLC6A3","SLC6A4","SLC6A8","SLC9A6","SLITRK1","SLITRK2","SMARCA2","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SMC1A","SMG8","SMO","SMPD1","SNCA","SNORD115-1","SNORD116-1","SNORD118","SNRPN","SOD1","SOX11","SOX4","SOX5","SPART","SPAST","SPATA5","SPEN","SPG11","SPG21","SPOP","SPR","SPTBN1","SQSTM1","SRCAP","SRPX2","ST3GAL3","ST3GAL5","STAG2","STAT4","STEEP1","STIL","STT3A","STUB1","STX16","SUCLA2","SUCLG1","SUFU","SUPT16H","SVBP","SYN1","SYNGAP1","SYNJ1","SYT1","TAF15","TAOK1","TARDBP","TASP1","TBC1D23","TBC1D8B","TBK1","TBP","TBX1","TCF20","TCF4","TCN2","TDGF1","TDO2","TERT","TFE3","TGFBR2","TGIF1","TH","THOC2","TIMM50","TK2","TKT","TLR4","TMCO1","TMEM106B","TMEM147","TMEM222","TMEM231","TMEM237","TMEM240","TMEM67","TNIK","TP53","TRAF7","TRANK1","TRAPPC10","TREM2","TREX1","TRIM8","TRIO","TRIP12","TRMT5","TRMU","TRPC6","TSC1","TSC2","TSEN15","TSFM","TSPOAP1","TTC19","TTC5","TTI2","TUBB3","TUBG1","TULP1","TWNK","TYROBP","UBA5","UBAC2","UBE2A","UBE3A","UBE3C","UBE4A","UBE4B","UBQLN2","UBTF","UCHL1","UFC1","UNC13A","UNC80","UQCC2","UROC1","USP48","USP7","USP8","USP9X","VAMP2","VAPB","VCP","VDR","VPS13A","VPS13C","VPS16","VPS35","VPS50","VPS53","WAC","WARS2","WASF1","WASHC4","WDR26","WDR45","WDR62","WT1","YIF1B","ZBTB20","ZEB2","ZFYVE26","ZIC2","ZMIZ1","ZMYND11","ZNRF3","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_FEAR_ANXIETY_RELATED_BEHAVIOR":{"collection":"C5:HPO","systematicName":"M38882","pmid":"","exactSource":"HP:0100852","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100852","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FEAR_ANXIETY_RELATED_BEHAVIOR","geneSymbols":["ABCC9","ACSL4","ADCY5","ADGRV1","ADNP","AGO1","AIP","ALAD","ALDH4A1","ALDH5A1","ALG14","ANG","ANXA11","AP1G1","APC2","AR","ARID2","ARSG","ARVCF","ASH1L","ATP1A3","ATRX","ATXN2","BAZ1B","BCL11B","BCL7B","BMPR1A","BPTF","BRAF","BRD4","BUD23","CABP4","CACNA1A","CACNA1H","CASR","CCND1","CCNF","CDC42BPB","CDH2","CDH23","CDKL5","CDKN2A","CDON","CEACAM3","CEACAM6","CEP78","CFAP410","CFTR","CHCHD10","CHD7","CHD8","CHMP2B","CHRNA2","CHRNA4","CHRNB2","CIB2","CIC","CIZ1","CLCA4","CLCN3","CLCN4","CLIP2","CLN3","CLN5","CLRN1","CLTRN","COL7A1","COMT","COQ2","CPOX","CREBBP","CRH","CTNNB1","DAO","DCTN1","DCTN4","DDB1","DEAF1","DENND5A","DEPDC5","DISP1","DLAT","DLL1","DLST","DNAJC30","DNAJC6","DNMT3A","DPH1","DPH2","DRD2","DUSP6","DYRK1A","EDNRA","EHMT1","EIF2AK1","EIF4H","ELN","EMC10","EP300","EPAS1","EPCAM","EPHA4","ERBB4","ESPN","FA2H","FAN1","FGF17","FGF8","FGFR1","FH","FIG4","FKBP6","FLII","FLT4","FMO3","FMR1","FOXH1","FOXP1","FRMD5","FTSJ1","FUS","GABBR2","GABRA1","GABRB3","GABRD","GABRG2","GALT","GAS1","GCH1","GCLC","GLA","GLE1","GLI2","GLT8D1","GM2A","GNA11","GNAS","GNB1","GNRH1","GNRHR","GP1BB","GPR101","GRIK2","GRIN2A","GRN","GSTM3","GTF2I","GTF2IRD1","GTF2IRD2","H1-4","HARS1","HCN1","HDAC8","HECTD4","HEXB","HFE","HIRA","HIVEP2","HLA-DQA1","HLA-DQB1","HMBS","HMOX1","HNRNPA1","HNRNPH2","HS6ST1","HSPG2","HTR2A","HTRA1","HTRA2","HTT","IFNG","IGF1R","IMPDH2","IQSEC2","JMJD1C","JPH3","JRK","KANSL1","KCNN2","KCNN4","KCNT1","KCTD17","KIF1B","KISS1","KISS1R","KMT2A","KMT2B","KMT2E","KPTN","KRAS","LARP7","LGI3","LIMK1","LRRK2","MAMLD1","MAN2B1","MAPK1","MAPT","MATR3","MAX","MBD5","MDH2","MECP2","MED12L","MEN1","METTL27","MIF","MIR17HG","MLH1","MLH3","MLXIPL","MMP1","MSH2","MSH6","MSTO1","MT-CO1","MT-CO2","MT-CO3","MT-ND1","MT-ND4","MT-ND5","MT-ND6","MT-TF","MT-TH","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TW","MYO7A","NAGS","NCF1","NDP","NEFH","NEK1","NEXMIF","NF1","NFASC","NFIB","NFIX","NHLH2","NIPBL","NKX2-1","NODAL","NONO","NOTCH3","NR3C1","NR4A2","NSD1","NSD2","NSMF","NTNG1","OCRL","OPTN","PAH","PAK3","PARK7","PCDH15","PCDH19","PDE10A","PDE11A","PDGFB","PDGFRB","PDZD7","PFN1","PHF21A","PHIP","PIK3CA","PINK1","PLCH1","PMS1","PMS2","PODXL","POGZ","POLG","POLG2","PON1","PON2","PON3","PPARGC1A","PPM1D","PPOX","PPP1CB","PPP2R2B","PQBP1","PRKAR1A","PRKAR1B","PRKN","PRNP","PROK2","PROKR2","PRPH","PRR12","PSEN1","PSMD12","PTCH1","PURA","RAD21","RAI1","RET","RFC2","RFX7","RIMS2","RLIM","RNF125","RPS20","RREB1","RRM2B","SATB2","SCN1A","SCN1B","SCN2A","SCN9A","SDHA","SDHAF2","SDHB","SDHC","SDHD","SEC24C","SEMA4A","SERPINA1","SETBP1","SETD1A","SETD1B","SETD2","SETD5","SGCE","SHH","SHQ1","SIN3A","SIX3","SLC11A1","SLC25A11","SLC25A4","SLC26A9","SLC2A1","SLC2A3","SLC35C1","SLC45A1","SLC6A14","SLC6A19","SLC6A4","SLC7A6OS","SLC9A3","SLITRK2","SMC1A","SMC3","SMC5","SNCA","SNRPN","SOD1","SOX5","SPART","SPECC1L","SPRY4","SPTBN1","SQSTM1","SRCAP","SRPX2","STAG2","STEEP1","STIL","STUB1","STX16","STX1A","STX1B","SYNJ1","TAC3","TACR3","TAF1","TAF15","TANC2","TARDBP","TBK1","TBL2","TBX1","TCF12","TCF20","TDGF1","TERT","TET3","TGFB1","TGFBR2","TGIF1","THOC2","TLK2","TLR7","TMCO1","TMEM106B","TMEM127","TMEM147","TMEM270","TOR1A","TP53","TRANK1","TREM2","TREX1","TRIP12","TSC1","TSC2","TTC19","TTR","TWNK","UBQLN2","UCHL1","UFD1","UNC13A","UQCRC1","USH1C","USH1G","USH2A","USP48","USP8","VAPB","VCP","VHL","VPS13A","VPS13C","VPS37D","WAC","WARS2","WDR11","WDR45","WFS1","WHRN","XK","YWHAG","YY1","ZBTB20","ZIC2","ZNRF3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_APLASIA_OF_THE_MUSCULATURE":{"collection":"C5:HPO","systematicName":"M38883","pmid":"","exactSource":"HP:0100854","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100854","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_OF_THE_MUSCULATURE","geneSymbols":["CHRNA1","CHRND","CHRNG","LMX1B","MYMK","MYMX","PLXND1","REV3L","TBX3","TBX5","TRPV4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BROAD_ISCHIA":{"collection":"C5:HPO","systematicName":"M46403","pmid":"","exactSource":"HP:0100865","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100865","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BROAD_ISCHIA","geneSymbols":["ALG9","COL11A1","EXTL3","LIFR","TMEM53"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DUODENAL_STENOSIS":{"collection":"C5:HPO","systematicName":"M38884","pmid":"","exactSource":"HP:0100867","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100867","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DUODENAL_STENOSIS","geneSymbols":["BRCA1","BRCA2","BRIP1","CDC45","ERCC4","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FOXF1","GATA1","MAD2L2","PALB2","RAD51","RAD51C","RARB","RFWD3","SLX4","STRA6","TTC7A","UBE2T","WNT7B","XRCC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PALMAR_TELANGIECTASIA":{"collection":"C5:HPO","systematicName":"M38885","pmid":"","exactSource":"HP:0100869","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100869","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PALMAR_TELANGIECTASIA","geneSymbols":["ACVRL1","GPR35","LBR","MST1","SEMA4D","SOX18","TCF4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_PALM_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M38886","pmid":"","exactSource":"HP:0100871","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100871","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PALM_MORPHOLOGY","geneSymbols":["AAAS","AAGAB","ABCA12","ABCC9","ACTC1","ACTN2","ACVRL1","ADAMTS10","ADAMTSL1","ADAMTSL2","ADNP","AFF3","AIFM1","AIP","AKT1","ALDH6A1","ALOX12B","ALOXE3","ANKRD1","ANKRD11","ANTXR2","AP1B1","APC","AQP5","ARID1B","ARL3","ASXL1","ASXL2","ASXL3","ATP2A2","ATP6V0A2","ATP6V1B2","ATP7A","ATR","AUTS2","B3GLCT","B4GALT7","BAG3","BAG5","BCOR","BCR","BGN","BHLHA9","BICD2","BMP4","BMPR1B","BRAF","BRD4","BRF1","C1R","CAMK2G","CAMTA1","CAP2","CARD14","CAST","CCBE1","CCNQ","CD28","CD4","CD96","CDC42BPB","CDK10","CDK19","CDSN","CEP55","CEP57","CERS3","CFTR","CHD7","CHST14","CHST3","CHSY1","CIB1","CILK1","CKAP2L","CLCN7","COG1","COG4","COG6","COL11A1","COL11A2","COL14A1","COL17A1","COL2A1","COL7A1","COL9A2","COX14","COX7B","CPLX1","CREBBP","CRKL","CRLF1","CRYAB","CSGALNACT1","CSNK2A1","CSRP3","CST6","CSTA","CTBP1","CTC1","CTCF","CTLA4","CTSB","CTSC","CUL4B","CYP4F22","DDR2","DDX11","DES","DHX30","DIS3L2","DKC1","DLK1","DLX4","DMD","DOCK6","DOK7","DOLK","DPAGT1","DPH1","DPH2","DPM1","DPYD","DPYSL5","DSC2","DSE","DSG1","DSG2","DSP","DST","DVL1","DVL3","DYM","DYNC1H1","DYNC2H1","DYNC2I1","DYNC2I2","EHMT1","ENPP1","EP300","ESCO2","EVC","EVC2","EXT1","EXTL3","EZH2","FBN1","FBXO28","FERMT1","FGD1","FGF9","FGFR1","FGFR2","FGFR3","FGFRL1","FHL1","FHL2","FIG4","FKTN","FLG","FLNA","FOXP1","FZD2","G6PC3","GATA1","GATAD1","GDF5","GJA1","GJA5","GJA8","GJB2","GJB3","GJB4","GJB6","GLE1","GLYCTK","GMPPA","GNB1","GNB2","GNS","GPC3","GPC4","GPR101","GPR35","GPX4","GRHL2","GRIN1","H3-3A","H4C9","HAND2","HCCS","HDAC4","HDAC6","HDAC8","HERC2","HNRNPK","HNRNPR","HPGD","HRAS","IFT122","IFT43","IFT57","IFT80","IGF1","IGF1R","IHH","INPP5K","INPPL1","ITCH","ITGB4","IVNS1ABP","JARID2","JPH2","JUP","KANK2","KANSL1","KAT6B","KATNB1","KCNH1","KCNJ2","KCNK9","KCNMA1","KCNN3","KDF1","KDM4B","KDM5C","KDM6B","KDSR","KIF21A","KLHL15","KLHL24","KLLN","KMT2B","KMT2D","KRAS","KRT1","KRT10","KRT14","KRT16","KRT17","KRT2","KRT5","KRT6A","KRT6B","KRT6C","KRT74","KRT83","KRT9","LAMA3","LAMA4","LAMB3","LAMC2","LBR","LDB3","LETM1","LIFR","LMNA","LMOD2","LMX1B","LONP1","LORICRIN","LSS","LTBP1","LTBP3","LTBP4","LZTR1","MAGEL2","MAP1B","MAP2K1","MAP2K2","MAP3K7","MAPK1","MAPRE2","MBD5","MBTPS2","MCOLN1","MCTP2","MED12","MED25","MEF2C","MEG3","MEGF8","MKRN3","MMP1","MRAS","MRPS28","MSL3","MST1","MT-TS1","MTFMT","MTOR","MTX2","MUSK","MYBPC3","MYH3","MYH6","MYH7","MYOD1","MYPN","NAA10","NAA20","NALCN","NBAS","NDN","NDUFB11","NECTIN1","NECTIN4","NEXMIF","NEXN","NGLY1","NHP2","NIPAL4","NIPBL","NLRP1","NOG","NOP10","NPAP1","NPM1","NSD2","NSDHL","NUP107","NUP188","NUP88","NXN","ORC1","OTUD5","PACS1","PARN","PDGFRB","PDHA1","PEPD","PERP","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PGM2L1","PIEZO2","PIGA","PIGL","PIGS","PIK3CA","PIK3R1","PKDCC","PKP1","PLAA","PLEC","PLN","PLOD1","PLOD3","PNPLA1","PNPLA6","POFUT1","POGLUT1","POLRMT","POMP","POR","PORCN","PPCS","PPP2CA","PPP2R3C","PPP3CA","PRDM16","PRKAR1A","PRR12","PSEN1","PSEN2","PSENEN","PTCH1","PTCH2","PTDSS1","PTEN","PTH1R","PTPRF","PUF60","PWAR1","PWRN1","RAB11B","RAB3GAP2","RAD21","RAF1","RAI1","RAPSN","RBM10","RBM20","RBPJ","RECQL4","RHBDF2","RIN2","RIPK4","RIT1","RMRP","RNU4ATAC","ROR2","RPL10","RPL3L","RPS23","RPS6KA3","RSPO1","RSPRY1","RTEL1","RTL1","SASH1","SCN5A","SCUBE3","SDHA","SDHB","SDHC","SDHD","SDR9C7","SEC23B","SEMA4D","SEPSECS","SERPINA12","SERPINB7","SET","SETBP1","SGCD","SH3PXD2B","SHOC2","SIL1","SIN3A","SLC18A3","SLC25A12","SLC25A24","SLC2A10","SLC35C1","SLC39A13","SLCO2A1","SLURP1","SMAD2","SMAD4","SMARCA2","SMARCAD1","SMC1A","SMC3","SMC5","SMOC1","SMPD4","SMS","SNAP29","SNIP1","SNORD115-1","SNORD116-1","SNRPN","SOX18","SPECC1L","SPRED2","SPRTN","SPTBN1","SRD5A3","STAG1","STS","STXBP1","SUFU","SULT2B1","TAF1A","TAF6","TAFAZZIN","TASP1","TAT","TBCE","TBL1XR1","TBX4","TCAP","TCF12","TCF4","TELO2","TERC","TERT","TFAP2A","TGDS","TGM1","TGM5","THOC2","TINF2","TMEM147","TMEM53","TMPO","TNFRSF1B","TNNC1","TNNI2","TNNI3","TNNT2","TNNT3","TOE1","TONSL","TP63","TPM1","TPM2","TRAPPC11","TRIM37","TRIM8","TRIO","TRIP11","TRPM4","TRPS1","TRPV3","TSEN15","TSEN2","TSEN34","TSEN54","TTN","TUBA1A","TWIST1","TXNRD2","TYMS","UBE3B","UBR1","UBR7","UFC1","UPF3B","USB1","USF3","VAC14","VCL","VEZF1","VPS13B","VPS33A","VPS33B","VPS51","WAC","WDR35","WDR37","WDR81","WNT10A","WNT5A","WRAP53","XYLT1","YY1","YY1AP1","ZC4H2","ZMYM2","ZNF292","ZNF462","ZNF469"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_PLANTAR_SKIN_OF_FOOT":{"collection":"C5:HPO","systematicName":"M38887","pmid":"","exactSource":"HP:0100872","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100872","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_PLANTAR_SKIN_OF_FOOT","geneSymbols":["AAAS","AAGAB","ABCA12","ABCC9","ACTC1","ACTN2","AIP","AKT1","ALOX12B","ALOXE3","ANAPC1","ANKRD1","AP1B1","AQP5","ASXL1","ATP2A2","ATP6V0A2","ATP6V1B2","B4GALT7","BAG3","BAG5","BRAF","C1R","CAP2","CARD14","CAST","CD28","CD4","CDSN","CERS3","CFTR","COG6","COL14A1","COL17A1","COL7A1","CREBBP","CRYAB","CSRP3","CST6","CSTA","CTC1","CTLA4","CTSB","CTSC","CYP27A1","CYP4F22","DES","DKC1","DMD","DOLK","DSC2","DSG1","DSG2","DSP","DST","ENPP1","EP300","ERCC6","FERMT1","FGFR2","FGFR3","FHL2","FIG4","FKTN","GATAD1","GJA1","GJB2","GJB3","GJB4","GJB6","GMPPA","GPR101","GRHL2","HAND2","HNRNPK","HPGD","HRAS","ITGB4","IVNS1ABP","JPH2","JUP","KANK2","KCNH1","KCNJ8","KCNMA1","KCNN3","KDSR","KLHL24","KLLN","KRAS","KRT1","KRT10","KRT14","KRT16","KRT17","KRT2","KRT5","KRT6A","KRT6B","KRT6C","KRT74","KRT83","KRT9","LAMA3","LAMA4","LAMB3","LAMC2","LDB3","LIG4","LMNA","LMOD2","LORICRIN","LSS","LZTR1","MAP2K1","MAP2K2","MBTPS2","MCOLN1","MMP1","MRAS","MT-TS1","MTOR","MTX2","MYBPC3","MYH6","MYH7","MYPN","NECTIN1","NEXN","NHP2","NIPAL4","NLRP1","NOP10","NPM1","PARN","PDGFRB","PEPD","PERP","PIGL","PIGN","PIGQ","PIK3CA","PKP1","PLAA","PLEC","PLN","PLOD1","PNPLA1","POMP","PPCS","PRDM16","PRKD1","PSEN1","PSEN2","PTCH1","PTCH2","PTEN","RAF1","RBM20","RECQL4","RHBDF2","RIT1","RPL3L","RSPO1","RTEL1","SASH1","SCN5A","SDHA","SDHB","SDHC","SDHD","SDR9C7","SEC23B","SERPINA12","SERPINB7","SGCD","SLCO2A1","SLURP1","SMARCAD1","SNAP29","SOX18","SRD5A3","STS","SUFU","SULT2B1","TAF1A","TAFAZZIN","TAT","TBL1XR1","TCAP","TERC","TERT","TGM1","TINF2","TMPO","TNFRSF1B","TNNC1","TNNI3","TNNT2","TP63","TPM1","TRAPPC11","TRPM4","TRPV3","TTN","TXNRD2","TYMS","USB1","USF3","VCL","VEZF1","VPS33B","WNT10A","WRAP53","ZNF469"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_THICK_HAIR":{"collection":"C5:HPO","systematicName":"M38888","pmid":"","exactSource":"HP:0100874","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100874","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THICK_HAIR","geneSymbols":["AFF4","ASXL1","ATP6V0A2","ATP6V1A","ATP6V1E1","ATP7A","CLDN1","COG4","INSR","KCNH1","KCNK4","KCNN3","KMT2A","MSTO1","NDUFAF6","NEK1","RUSC2","SMC3","VPS13B","VPS33A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INFRA_ORBITAL_CREASE":{"collection":"C5:HPO","systematicName":"M46404","pmid":"","exactSource":"HP:0100876","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100876","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INFRA_ORBITAL_CREASE","geneSymbols":["AARS1","DHPS","FGFR2","IARS2","LRP2","MDH1","NAA10","PUS7","SOX4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ENLARGED_OVARIES":{"collection":"C5:HPO","systematicName":"M38889","pmid":"","exactSource":"HP:0100879","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100879","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ENLARGED_OVARIES","geneSymbols":["AKT1","CYB5A","CYP17A1","CYP19A1","ESR1","FSHR","INSR","KLLN","MID1","PIK3CA","POR","PTEN","SDHB","SDHC","SDHD","SEC23B","STK11","USF3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_GLOBE_LOCATION":{"collection":"C5:HPO","systematicName":"M38890","pmid":"","exactSource":"HP:0100886","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100886","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_GLOBE_LOCATION","geneSymbols":["AARS1","AASS","ABCA12","ABCC9","ABCD4","ABL1","ACBD5","ACOX1","ACTA1","ACTA2","ACTB","ACTG1","ACTL6B","ACY1","ADA2","ADAMTS10","ADAMTS3","ADAT3","ADGRG6","ADK","ADNP","AFF3","AFF4","AGA","AGL","AGO2","AHDC1","AIFM1","AKT1","AKT3","ALDH18A1","ALDH6A1","ALG1","ALG13","ALG6","ALG8","ALG9","ALKBH8","ALMS1","ALPL","ALX1","ALX3","ALX4","AMER1","ANAPC7","ANK1","ANKH","ANKRD11","ANKRD17","ANTXR1","AP1G1","AP1S2","AP3B2","AP3D1","AP4S1","APC","ARCN1","ARID1B","ARNT2","ARVCF","ASH1L","ASNS","ASPM","ASXL1","ASXL2","ASXL3","ATAD3A","ATN1","ATP6AP1","ATP6V0A2","ATP6V1A","ATP6V1B2","ATP6V1E1","ATRX","ATXN3","AUTS2","AVP","B3GALT6","B3GAT3","B3GLCT","B4GALT1","B4GALT7","B9D1","B9D2","BANF1","BAP1","BBS7","BCAS3","BCL11B","BCORL1","BCR","BGN","BICRA","BLNK","BLTP1","BMP2","BMPER","BMPR1A","BNC2","BPNT2","BPTF","BRAF","BRCA1","BRCA2","BRCC3","BRIP1","BRPF1","BUB1B","C12orf57","CACNA1C","CACNA1G","CAMK2A","CAMK2B","CAMTA1","CANT1","CARS1","CASK","CASZ1","CBL","CC2D2A","CCBE1","CCDC22","CCDC32","CCDC47","CCND2","CCNK","CD79A","CD79B","CDC42","CDC42BPB","CDC45","CDCA7","CDH1","CDH11","CDH2","CDK10","CDK13","CDK19","CDK5RAP2","CDKL5","CDKN1C","CDON","CENPF","CENPJ","CEP120","CEP290","CEP57","CHD3","CHD4","CHD7","CHD8","CHN1","CHRNA1","CHRNA7","CHRND","CHRNG","CHST14","CHST3","CHSY1","CILK1","CIT","CITED2","CKAP2L","CLCN3","CLCN6","CLCN7","CLP1","CNOT1","CNOT3","CNTN1","CNTNAP2","COA3","COG1","COG4","COL11A1","COL11A2","COL1A1","COL1A2","COL25A1","COL27A1","COL2A1","COL3A1","COL5A1","COLEC10","COLEC11","COMT","COX14","COX5A","COX7B","COX8A","CPLANE1","CPLX1","CRB1","CREBBP","CRIPT","CRKL","CRPPA","CRTAP","CSGALNACT1","CSNK2A1","CSPP1","CTBP1","CTCF","CTLA4","CTNND1","CTNND2","CTSK","CTU2","CUX1","CYP27A1","DCHS1","DCLRE1B","DCPS","DDB1","DDR2","DDX3X","DDX59","DDX6","DEAF1","DEF6","DHCR7","DHPS","DHX37","DICER1","DIS3L2","DISP1","DLK1","DLL1","DLX4","DNAJC21","DNM1L","DNMT3A","DNMT3B","DOCK6","DOK7","DPF2","DPH1","DPH2","DPH5","DPM1","DPM2","DPYD","DPYSL5","DSE","DUSP6","DVL1","DVL3","DYNC1I2","DYRK1A","EBF3","EBP","EDEM3","EED","EEF1A2","EFEMP2","EFNB1","EHMT1","EIF2AK3","EIF5A","ELMO2","ELN","EMC1","EP300","EPB41L1","EPG5","ERCC1","ERCC2","ERCC3","ERCC4","ERCC6","ERCC8","ERF","ERGIC1","ERMARD","ESCO2","EVC","EVC2","EXOC2","EXOSC2","EXOSC9","EXT2","EXTL3","EZH2","FAM111A","FAM149B1","FAM20C","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FAR1","FARSA","FARSB","FAT4","FBN1","FBXO11","FBXO31","FGD1","FGF17","FGF20","FGF3","FGF8","FGF9","FGFR1","FGFR2","FGFR3","FGFRL1","FH","FIBP","FIG4","FKBP14","FLCN","FLI1","FLII","FLNA","FLNB","FLT4","FMR1","FN1","FOCAD","FOXC1","FOXE3","FOXF1","FOXG1","FOXH1","FOXP1","FOXP2","FRA10AC1","FRAS1","FREM1","FREM2","FUCA1","FZD2","GABRD","GAD1","GALNT2","GAS1","GATA1","GATA2","GATA4","GATA5","GATA6","GATAD2B","GBA1","GDF1","GFRA1","GGT1","GJA1","GJA5","GJA8","GK","GLB1","GLE1","GLI2","GLI3","GLYCTK","GNB2","GNE","GNPTAB","GNRH1","GNRHR","GNS","GON7","GORAB","GP1BB","GPAA1","GPC3","GPC4","GPKOW","GPT2","GREB1L","GRIA3","GRIN1","GRIP1","GSC","GTF2E2","GTF2H5","H3-3A","H4C11","H4C3","H4C5","H4C9","HACE1","HBA1","HBA2","HDAC4","HDAC8","HEATR3","HECTD4","HECW2","HELLS","HEPACAM","HERC1","HEY2","HHAT","HID1","HIRA","HIVEP2","HLA-DPA1","HLA-DPB1","HMGA2","HNRNPH2","HNRNPK","HNRNPU","HPDL","HRAS","HS2ST1","HS6ST1","HS6ST2","HSD17B4","HSPG2","HUWE1","HYLS1","HYMAI","IARS2","IDUA","IFT122","IFT140","IFT43","IFT52","IFT81","IGF1R","IGF2","IGHM","IGLL1","IL11RA","IL1RAPL1","IL6ST","INPPL1","INSR","INTS1","INTS8","INTU","IPO8","IQSEC2","IRF4","IRX5","ITCH","ITGA3","ITGA8","JAG1","JARID2","JMJD1C","KANSL1","KAT6A","KAT6B","KAT8","KATNB1","KATNIP","KBTBD13","KCNAB2","KCNH1","KCNJ2","KCNJ5","KCNJ6","KCNK4","KCNMA1","KCNN3","KCNQ1","KCNQ1OT1","KCTD1","KDM1A","KDM5C","KDR","KIAA0586","KIAA0753","KIDINS220","KIF15","KIF21A","KIF26A","KIF7","KIFBP","KISS1","KISS1R","KLF13","KLHL41","KMT2A","KMT2B","KMT2D","KMT2E","KNL1","KNSTRN","KPTN","KRAS","KREMEN1","LAGE3","LARP7","LAS1L","LBR","LEMD2","LEMD3","LETM1","LIFR","LIG4","LMBR1","LMNA","LMNB1","LOX","LRP2","LRP4","LRP5","LRPPRC","LRRC8A","LTBP1","LTBP4","LUZP1","LZTR1","MACF1","MAD1L1","MAD2L2","MAF","MAFB","MAN1B1","MAN2B1","MAN2C1","MAP2K1","MAP2K2","MAP3K7","MAPK1","MAPK8IP3","MAPRE2","MARS1","MARS2","MASP1","MAT2A","MBD5","MCTP2","MED12","MED12L","MED13","MED13L","MED25","MED27","MEF2C","MEG3","MEGF8","MEIS2","MFAP5","MGAT2","MICU1","MID1","MIPEP","MITF","MKS1","MLXIPL","MMP2","MMP23B","MN1","MOCS1","MOCS2","MPLKIP","MRAS","MRPS14","MSL3","MSTO1","MSX2","MTHFR","MTOR","MTX2","MUSK","MYD88","MYH11","MYH3","MYLK","MYOD1","MYPN","NAA10","NALCN","NARS1","NBAS","NCDN","NDE1","NDP","NEB","NEDD4L","NELFA","NF1","NF2","NFASC","NFIX","NGF","NGLY1","NHLH2","NIN","NIPBL","NKX2-5","NKX2-6","NKX3-2","NLRP3","NODAL","NONO","NOTCH2","NOTCH3","NOVA2","NRAS","NRCAM","NSD1","NSD2","NSMCE3","NSMF","NSRP1","NSUN2","NTNG2","NTRK1","NUP107","NUP133","NUP88","NXN","OCRL","ODC1","OFD1","OGT","OPHN1","ORAI1","OSGEP","OSTM1","OTUD5","OTX2","P3H1","P4HB","PACS1","PACS2","PAFAH1B1","PAH","PAICS","PAK1","PAK3","PALB2","PARS2","PAX3","PCLO","PDCD6IP","PDE4D","PDE6D","PDGFB","PDGFRB","PDHX","PDPN","PDZD8","PEPD","PEX1","PEX2","PEX3","PEX5","PEX6","PGAP1","PGAP2","PGAP3","PHACTR1","PHF6","PHGDH","PHIP","PIEZO2","PIGA","PIGB","PIGG","PIGL","PIGN","PIGO","PIGU","PIGV","PIGW","PIGY","PIK3CA","PIK3CD","PIK3R1","PIK3R2","PITX1","PITX2","PKDCC","PLAGL1","PLCB3","PLCH1","PLEC","PLK4","PLOD3","PLP1","PMM2","POC1A","POGZ","POLA1","POLD1","POLR1A","POLR1B","POLR1C","POLR1D","POLR2A","POLR3A","POLR3GL","POLRMT","POR","POU1F1","POU4F1","PPP1CB","PPP1R12A","PPP1R15B","PPP1R21","PPP2CA","PPP2R1A","PPP2R5D","PPP3CA","PRDM13","PRDM16","PRKACB","PRKAR1A","PRKAR1B","PRKCZ","PRKDC","PRKG1","PRMT7","PROK2","PROKR2","PRORP","PRPS1","PRR12","PRRX1","PRTN3","PRUNE1","PSAT1","PSMB8","PSMD12","PTCH1","PTCH2","PTDSS1","PTEN","PTH1R","PTPN11","PTPN22","PTRH2","PUF60","PUS1","PUS7","PYCR1","PYCR2","QARS1","QRICH1","RAB3GAP1","RAB3GAP2","RAC3","RAD21","RAD51","RAD51C","RAF1","RAI1","RALGAPA1","RAPSN","RARS2","RASA2","RB1","RBL2","RBM10","RECQL","RECQL4","RELN","RERE","RET","RFWD3","RHOBTB2","RIPK4","RIT1","RLIM","RMRP","RNF113A","RNF2","RNU12","RNU4ATAC","ROR2","RPGRIP1","RPGRIP1L","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS6KA3","RPS7","RRAS","RRAS2","RREB1","RSPO2","RSPRY1","RSRC1","RTL1","RTTN","RUNX2","RUSC2","RYR1","SALL4","SATB2","SCN1A","SCN4A","SCNM1","SCYL2","SEC23A","SEC24C","SEC24D","SEMA3E","SEMA5A","SEPTIN9","SERPINH1","SET","SETBP1","SETD1A","SETD2","SH2B1","SH3BP2","SH3PXD2B","SHANK3","SHH","SHOC2","SHPK","SIAH1","SIK3","SIN3A","SIX2","SIX3","SKI","SKIC2","SKIC3","SLC12A6","SLC18A3","SLC1A4","SLC25A12","SLC25A24","SLC26A2","SLC29A3","SLC2A10","SLC35A1","SLC35C1","SLC37A4","SLC39A13","SLC39A14","SLC39A7","SLC45A1","SLC9A6","SLC9A7","SLX4","SMAD2","SMAD3","SMAD4","SMARCA2","SMARCB1","SMARCD1","SMARCE1","SMC1A","SMCHD1","SMG9","SMO","SMPD4","SMS","SNAP29","SNRPN","SON","SOS1","SOS2","SOST","SOX6","SOX9","SPART","SPECC1L","SPEN","SPI1","SPINT2","SPOP","SPRED1","SPRED2","SPRY4","SPTBN1","SRC","SRCAP","SRD5A3","SSR4","STAG1","STAG2","STAMBP","STAT3","STIL","STIM1","STRADA","SUFU","SUOX","SUPT16H","SUZ12","SYNGAP1","TAC3","TACR3","TAF1","TAFAZZIN","TAOK1","TAPT1","TARS1","TASP1","TBC1D20","TBC1D24","TBCD","TBCE","TBCK","TBL1XR1","TBR1","TBX1","TBX15","TBX2","TBX4","TCF12","TCF20","TCF3","TCF4","TCIRG1","TCOF1","TCTN1","TCTN2","TCTN3","TDGF1","TDO2","TELO2","TENM3","TERT","TFAP2A","TFAP2B","TFE3","TGDS","TGFB1","TGFB2","TGFB3","TGFBR1","TGFBR2","TGIF1","THOC2","THOC6","THRA","THRB","THSD1","THSD4","THUMPD1","TLK2","TMCO1","TMEM107","TMEM138","TMEM147","TMEM216","TMEM231","TMEM237","TMEM53","TMEM67","TMEM94","TNFRSF11A","TOGARAM1","TONSL","TOPORS","TP53RK","TPM2","TPM3","TPR","TPRKB","TRAF7","TRAPPC9","TRIM37","TRIM8","TRIO","TRIP12","TRIP13","TRIP4","TRMT10A","TRPM3","TRRAP","TSHR","TSR2","TTC26","TTC7A","TTI2","TUBA1A","TUBB","TWIST1","TWIST2","TXNDC15","TXNL4A","UBE2A","UBE2T","UBE3A","UBE3B","UBE4B","UBR7","UFC1","UFD1","UGDH","UMPS","USB1","USP9X","VAC14","VANGL2","VPS35L","VPS51","VSX1","WAC","WARS2","WASF1","WASHC5","WDPCP","WDR11","WDR19","WDR35","WDR37","WDR4","WDR73","WNT5A","WNT9B","XRCC2","XRCC4","XYLT1","XYLT2","YARS1","YRDC","YWHAE","ZBTB18","ZBTB20","ZBTB24","ZC4H2","ZEB2","ZFPM2","ZIC1","ZIC2","ZIC3","ZMIZ1","ZMPSTE24","ZMYM2","ZMYND11","ZNF292","ZNF526","ZNF668","ZNF699","ZPR1","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RECTAL_POLYPOSIS":{"collection":"C5:HPO","systematicName":"M38892","pmid":"","exactSource":"HP:0100896","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100896","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECTAL_POLYPOSIS","geneSymbols":["BMPR1A","ENG","GREM1","MUTYH","SMAD4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CONNECTIVE_TISSUE_NEVI":{"collection":"C5:HPO","systematicName":"M38893","pmid":"","exactSource":"HP:0100898","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100898","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONNECTIVE_TISSUE_NEVI","geneSymbols":["IFNG","LEMD3","PTEN","SLC25A24","TSC1","TSC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SCLEROSIS_OF_FINGER_PHALANX":{"collection":"C5:HPO","systematicName":"M38894","pmid":"","exactSource":"HP:0100899","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100899","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SCLEROSIS_OF_FINGER_PHALANX","geneSymbols":["EIF2AK3","ERCC6","ERCC8","GJA1","NGLY1","SRCAP","TONSL","TRPS1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ENLARGED_SYLVIAN_CISTERN":{"collection":"C5:HPO","systematicName":"M46405","pmid":"","exactSource":"HP:0100952","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100952","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ENLARGED_SYLVIAN_CISTERN","geneSymbols":["ADGRG1","PGAP1","RAB3GAP1","RAB3GAP2","SPATA5L1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_OPEN_OPERCULUM":{"collection":"C5:HPO","systematicName":"M41630","pmid":"","exactSource":"HP:0100954","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100954","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OPEN_OPERCULUM","geneSymbols":["C2CD3","CNNM2","CSPP1","FH","GCDH","KIAA0586"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_RENAL_MEDULLA_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M38895","pmid":"","exactSource":"HP:0100957","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100957","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RENAL_MEDULLA_MORPHOLOGY","geneSymbols":["ACTN4","AHI1","ANKS6","AP2S1","BSND","CEP120","CEP164","CEP290","CEP41","CEP83","CLCN7","COQ7","CRB2","DCDC2","DHX16","DYNC2H1","DYNC2I1","DYNC2I2","DYNC2LI1","DZIP1L","FAN1","GLIS2","H4C3","IFNG","IFT140","IFT172","IFT43","IFT80","INVS","IQCB1","JAG1","KIAA0753","LONP1","MAPKBP1","MUC1","NEK8","NIPBL","NPHP1","NPHP3","NPHP4","PAX2","PBX1","PDCD6IP","PDHA1","PKHD1","RPGRIP1L","SDCCAG8","TMEM138","TMEM216","TMEM67","TRAF3IP1","TRIP11","TSC2","TTC21B","TULP3","USP18","VPS33B","WDR19","XPNPEP3","ZNF423","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NARROW_FORAMEN_OBTURATORIUM":{"collection":"C5:HPO","systematicName":"M38896","pmid":"","exactSource":"HP:0100958","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100958","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NARROW_FORAMEN_OBTURATORIUM","geneSymbols":["CAV1","CCN2","CCR6","HLA-DRB1","IRF5","KIAA0319L"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SHYNESS":{"collection":"C5:HPO","systematicName":"M38897","pmid":"","exactSource":"HP:0100962","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100962","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHYNESS","geneSymbols":["AP4B1","AP4E1","AP4M1","AP4S1","C12orf4","DPYD","FMR1","NONO","POLA1","RLIM","SETD2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPERESTHESIA":{"collection":"C5:HPO","systematicName":"M38898","pmid":"","exactSource":"HP:0100963","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0100963","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERESTHESIA","geneSymbols":["ATL1","COL1A1","GALC","HRAS","NALCN","NF2","NTRK1","PSAP","UNC80"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_SHAPE_OF_THE_PALPEBRAL_FISSURE":{"collection":"C5:HPO","systematicName":"M38899","pmid":"","exactSource":"HP:0200005","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0200005","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SHAPE_OF_THE_PALPEBRAL_FISSURE","geneSymbols":["AGO1","ANKRD17","BRCA1","BRCA2","BRF1","BRIP1","CCDC47","CHD1","CLCN3","DNM1","EHMT1","ERCC4","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FOXL2","GON7","HERC2","HNRNPH2","IFT74","KAT5","KATNB1","KIF15","KMT2C","LMX1B","MAD2L2","MAGEL2","MAPK1","MKRN3","NDN","NPAP1","NSD2","NSDHL","OCA2","PALB2","PHIP","PMM2","PUF60","PWAR1","PWRN1","RAD51","RAD51C","RFWD3","RNF2","SIM1","SLX4","SNORD115-1","SNORD116-1","SNRPN","STXBP1","SYT1","UBE2A","UBE2T","XRCC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SLANTING_OF_THE_PALPEBRAL_FISSURE":{"collection":"C5:HPO","systematicName":"M46406","pmid":"","exactSource":"HP:0200006","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0200006","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SLANTING_OF_THE_PALPEBRAL_FISSURE","geneSymbols":["AARS1","ABAT","ABCA5","ABL1","ACSL4","ACTB","ACTG1","ACTL6B","ADAMTS2","ADAMTS3","ADAMTSL2","ADARB1","ADAT3","ADNP","AFF4","AGO1","AGO2","AGR2","AHDC1","AKT1","ALDH1A2","ALDH6A1","ALG2","ALX4","AMMECR1","AMPD2","ANK1","ANKLE2","ANKRD11","ANKRD17","AP1S1","AP3B1","AP3B2","AP4E1","APC","APC2","ARCN1","ARHGEF2","ARID1B","ARID2","ARL6","ARV1","ARVCF","ASPH","ASPM","ASXL1","ASXL3","ATAD3A","ATP1A2","ATP1A3","ATP6V0A2","ATP6V1A","ATP6V1B2","ATP6V1E1","ATP7A","ATR","ATRIP","ATRX","AUTS2","B3GAT3","B3GLCT","BAP1","BBIP1","BBS1","BBS10","BBS12","BBS2","BBS4","BBS5","BBS7","BBS9","BCL11A","BCL11B","BCORL1","BGN","BICRA","BLTP1","BMP2","BMPR1A","BPTF","BRAF","BRCA1","BRCA2","BRIP1","BRPF1","BUB1","BUB1B","BUB3","C12orf57","C2CD3","CACNA1A","CACNA1B","CACNA1G","CACNA2D1","CAMK2A","CAMTA1","CASK","CBL","CCDC115","CCDC22","CCDC32","CD96","CDC42","CDC42BPB","CDH11","CDH2","CDK10","CDK13","CDK19","CDK5RAP2","CDK6","CELF2","CENPE","CENPJ","CENPT","CEP135","CEP152","CEP19","CEP290","CEP57","CEP63","CERT1","CFAP418","CHAMP1","CHD1","CHD4","CHD5","CHD7","CHD8","CHRNA7","CHRNG","CHST14","CHST3","CIT","CKAP2L","CLCN3","CLCN4","CLTC","CNKSR2","CNOT2","CNOT3","CNTNAP2","COG1","COG7","COL11A1","COL11A2","COL3A1","COL5A1","COL9A3","COLEC10","COLEC11","COMT","COPB1","COPB2","CPLX1","CREBBP","CRTAP","CSGALNACT1","CTBP1","CTNND2","CTU2","CUL4B","CWC27","CYFIP2","DALRD3","DDB1","DDX59","DEAF1","DHCR24","DHCR7","DHDDS","DHODH","DHX30","DLG3","DLX4","DMXL2","DNA2","DNAJC21","DNM1","DOCK3","DOK7","DONSON","DPF2","DPH1","DPH2","DPH5","DPM1","DPP9","DPYD","DPYSL5","DSE","DVL1","DVL3","DYNC1H1","DYNC1I2","DYNC2LI1","DYRK1A","EBF3","EBP","EDEM3","EED","EEF1A2","EFEMP2","EFNB1","EFTUD2","EHMT1","EIF2AK3","EIF5A","EP300","ERCC4","ESCO2","EXOC2","EXOSC2","EZH2","FAM20C","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FBLN5","FBN1","FBXL4","FBXO11","FBXO28","FBXO31","FGD1","FGF12","FGF13","FGF3","FGFR1","FGFR2","FGFR3","FHL1","FIBP","FIG4","FLCN","FLI1","FLII","FLNA","FOXG1","FOXP1","FREM1","FZD2","FZR1","GABBR2","GABRA2","GABRA5","GABRB2","GABRG2","GAD1","GALNT2","GATA1","GATA4","GATAD2B","GJA1","GJA5","GJA8","GLE1","GLI3","GMNN","GNB2","GORAB","GP1BB","GPC3","GPC4","GRIN2D","GSC","H3-3A","H4C11","H4C3","H4C5","H4C9","HBA1","HBA2","HBB","HCN1","HDAC4","HEATR3","HECTD4","HERC1","HERC2","HHAT","HIRA","HIVEP2","HNRNPH1","HNRNPK","HNRNPR","HNRNPU","HRAS","HS2ST1","HS6ST2","HSD17B4","HUWE1","IDH1","IFT140","IFT172","IFT27","IFT57","IFT74","IGBP1","IGF1R","IL11RA","IL1RAPL1","IL6ST","IQSEC2","JAG1","JARID2","JMJD1C","KANSL1","KAT5","KAT6B","KAT8","KCNA2","KCNB1","KCNE5","KCNH1","KCNMA1","KCNN3","KDM1A","KDM4B","KDM5B","KDM5C","KIF11","KIF14","KIF15","KIF7","KIFBP","KMT2A","KMT2D","KMT2E","KNL1","KPTN","KRAS","KREMEN1","LDHD","LETM1","LIG4","LMBRD2","LMNA","LMNB1","LRP2","LRP4","LTBP1","LZTFL1","LZTR1","MAD2L2","MAF","MAGEL2","MAN1B1","MAP2K1","MAP2K2","MAP3K7","MAPK1","MAPK8IP3","MAPRE2","MASP1","MCM7","MCPH1","MCTP2","MECP2","MED12","MED12L","MED13L","MED25","MEF2C","MEGF8","MEIS2","METTL5","MFSD2A","MGAT2","MID1","MINPP1","MKKS","MKRN3","MKS1","MN1","MPDZ","MRAS","MRPS2","MSL3","MTOR","MTSS2","MVK","MYCN","MYH3","MYMK","MYMX","MYOD1","NAA10","NAA20","NALCN","NARS1","NBN","NCAPD3","NDUFS4","NECAP1","NECTIN1","NEK9","NELFA","NEXMIF","NF1","NFIA","NFIB","NFIX","NOG","NONO","NOTCH2","NOTCH3","NOVA2","NPAP1","NPHP1","NR2F1","NRAS","NRCAM","NSD1","NSD2","NSDHL","NSRP1","NTRK2","NUP37","NUP85","NUS1","NXN","OCRL","ODC1","OFD1","OGDHL","ORC6","OSGEP","OTUD5","OTUD6B","P4HB","PACS1","PACS2","PAFAH1B1","PAK3","PALB2","PARS2","PAX3","PCDHGC4","PCGF2","PCNT","PDGFRB","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PEX7","PGAP1","PGAP2","PGAP3","PGM2L1","PHC1","PHF8","PHIP","PHOX2B","PIGA","PIGB","PIGG","PIGL","PIGN","PIGO","PIGT","PIGV","PIGW","PIGY","PIK3CA","PITX1","PKDCC","PLK4","PLOD1","PLPBP","PMM2","POGZ","POLA1","POLR1A","POLR1B","POLR1C","POLR1D","POLR3A","POLR3GL","PPP1CB","PPP1R12A","PPP1R15B","PPP1R21","PPP2R1A","PPP2R5D","PPP3CA","PQBP1","PRDM13","PRKAR1B","PRPS1","PRR12","PRRX1","PSMD12","PTCH1","PTEN","PTPN11","PUF60","PURA","PUS7","PWAR1","PWRN1","PYCR1","PYCR2","QRICH1","RAB11B","RAB3GAP2","RAD21","RAD51","RAD51C","RAF1","RAI1","RAPSN","RASA2","RBBP8","RDH11","RECQL4","RERE","RFWD3","RFX7","RIN2","RIPK4","RIT1","RLIM","RNF135","RNU4ATAC","ROR2","RPS19","RPS28","RPS6KA3","RRAS","RRAS2","RREB1","RTTN","RYR1","SARS1","SASS6","SATB1","SATB2","SC5D","SCAPER","SCLT1","SCN3A","SCN4A","SCN8A","SCNM1","SDCCAG8","SEC24C","SEC24D","SEMA5A","SEPTIN9","SET","SETBP1","SETD1A","SETD1B","SETD2","SETD5","SF3B4","SH3PXD2B","SHOC2","SIAH1","SIM1","SIN3A","SKI","SKIC3","SLC13A5","SLC19A3","SLC1A2","SLC25A24","SLC29A3","SLC2A10","SLC30A9","SLC38A3","SLC39A13","SLC45A1","SLC9A7","SLF2","SLX4","SMARCA2","SMC1A","SMOC1","SMPD4","SMS","SNAP29","SNORD115-1","SNORD116-1","SNRPB","SNRPN","SON","SOS1","SOS2","SOX5","SPART","SPATA5L1","SPECC1L","SPEN","SPOP","SPRED1","SPRED2","SPTBN1","STAC3","STEEP1","STIL","SUPT16H","SUZ12","SYNGAP1","SYNJ1","SZT2","TAF1","TAF13","TASP1","TBCD","TBCK","TBR1","TBX1","TBX6","TCF4","TCOF1","TELO2","TFAP2A","TFAP2B","TFE3","TGDS","TGFB2","TGFB3","THOC6","THUMPD1","TLK2","TMCO1","TMEM147","TMEM237","TNNI2","TNRC6B","TOE1","TOR1A","TRAIP","TRAK1","TRAPPC10","TRAPPC14","TRIM32","TRIO","TRIP12","TRIP13","TRMT10A","TRPM3","TRRAP","TSPEAR","TSR2","TTC26","TTC8","TUBB","TUBB3","TUBGCP2","TWIST1","TWIST2","UBA5","UBE2A","UBE2T","UBE3A","UBE3B","UBR1","UBR7","UFD1","UMPS","UNC80","UQCC2","USP9X","VAC14","VPS13B","VPS35L","WAC","WARS1","WASF1","WASHC5","WDPCP","WDR35","WDR62","WNT5A","WWOX","XRCC2","XRCC4","YWHAE","YWHAG","YY1","ZBTB20","ZC4H2","ZEB2","ZIC1","ZIC2","ZMIZ1","ZMPSTE24","ZMYM2","ZMYND11","ZNF148","ZNF292","ZNF462","ZNF526","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_SIZE_OF_THE_PALPEBRAL_FISSURES":{"collection":"C5:HPO","systematicName":"M38900","pmid":"","exactSource":"HP:0200007","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0200007","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SIZE_OF_THE_PALPEBRAL_FISSURES","geneSymbols":["ACTB","ACTG1","ADNP","AFF3","ALDH1A3","ALG14","ALX4","ANK1","ANKRD11","AP3B2","ARID2","ARX","ATP6V1A","ATP6V1E1","ATR","AUTS2","B3GLCT","B9D2","BAZ1B","BCL11B","BCL7B","BCOR","BCR","BICRA","BMP1","BPTF","BRAF","BRCA1","BRCA2","BRIP1","BRPF1","BUB1","BUD23","CACNA1G","CAMK2G","CCNK","CDC42BPB","CDK13","CEP152","CEP55","CEP57","CHD4","CHN1","CLIP2","CLP1","CLTCL1","COG7","COL25A1","COLEC10","COLEC11","CREBBP","CRKL","CUL4B","CUX1","DACT1","DCHS1","DDB1","DDR2","DDX3X","DDX6","DGCR2","DGCR6","DGCR8","DLK1","DNAJC30","DNM1","DNMT3A","DOCK6","DONSON","DPH5","DVL1","DVL3","EBP","EDEM3","EFEMP2","EIF4H","EIF5A","ELN","EP300","ERCC1","ERCC4","ERCC6","ERMARD","ESS2","EXOSC2","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FAT4","FBXO28","FIBP","FKBP6","FOXG1","FOXL2","FOXP1","FOXP2","FRA10AC1","FTSJ1","FZD2","GABRA3","GATAD2B","GJA1","GJA5","GJA8","GNB2","GPC6","GPKOW","GTF2I","GTF2IRD1","GTF2IRD2","H4C5","HDAC4","HHAT","HNRNPH1","HNRNPH2","HNRNPK","HNRNPR","HSPG2","HUWE1","INPPL1","INTS1","IPO8","IRX5","KANSL1","KAT6B","KCNJ2","KCNJ5","KCTD1","KDM4B","KDM6A","KIF15","KIF26A","KMT2A","KMT2D","KPTN","KRAS","LARP7","LIFR","LIG4","LIMK1","LMBRD2","LMNA","LMNB1","MAD2L2","MADD","MAFB","MAGEL2","MAP2K1","MAP2K2","MAPK1","MAPK8IP3","MAPKAPK5","MAPRE2","MASP1","MCTP2","MECP2","MED12","MED13","MEG3","METTL27","MLXIPL","MOGS","MUSK","MYCN","MYH3","MYL11","NCF1","NFIB","NSUN2","NUAK2","NXN","ODC1","ORC1","OTUD6B","PALB2","PAX3","PCGF2","PCLO","PCNT","PDE4D","PGAP2","PGAP3","PGM3","PHF6","PIEZO2","PIGL","PIGO","PIGV","PIGW","PIGY","PIK3R2","POLA1","POLR1A","POLR3A","PPP1R12A","PRIM1","PRKAR1B","PRMT7","PRR12","PUF60","PURA","PYCR1","RAB18","RAC1","RAD51","RAD51C","RBM10","RBMX","RBPJ","RECQL4","RERE","RFC2","RFWD3","RFX7","RHOA","RIPK4","RNU4ATAC","ROR2","RPL10","RTL1","SALL1","SALL4","SCARF2","SEPTIN9","SETBP1","SETD2","SETD5","SF3B2","SIN3A","SLC25A24","SLC2A10","SLC6A17","SLX4","SMAD4","SMARCA2","SMC5","SMO","SMOC1","SMPD4","SNX14","SOX11","SOX6","SOX9","SPEN","SPOP","SPTBN1","SRCAP","STAC3","STRA6","STT3A","STX1A","TBC1D2B","TBL1XR1","TBL2","TBX1","TBX15","TENM3","TGFB3","THOC6","TLK2","TMEM107","TMEM270","TP63","TRIP12","TRMT1","TUBB","TXNL4A","UBE2T","UBE3B","UGDH","USP9X","VPS37D","WAC","WARS1","WDR35","WNT5A","XRCC2","ZBTB18","ZFHX4","ZMPSTE24","ZMYM2","ZNF148"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SHORT_CORPUS_CALLOSUM":{"collection":"C5:HPO","systematicName":"M47338","pmid":"","exactSource":"HP:0200012","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0200012","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_CORPUS_CALLOSUM","geneSymbols":["AHSG","ITGB6","LSS","PDHB","SLC35A2","TAF8"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NEOPLASM_OF_FATTY_TISSUE":{"collection":"C5:HPO","systematicName":"M38901","pmid":"","exactSource":"HP:0200013","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0200013","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_FATTY_TISSUE","geneSymbols":["ABCC6","AKT1","ALX1","ALX3","AP2S1","APC","BMPR1A","CCL2","CDC73","CDKN1A","CDKN1B","CDKN2B","CDKN2C","COQ6","ENPP1","FGFR1","FLCN","FUZ","GNA11","HEPACAM","KCTD1","KLLN","KRAS","LEMD3","LZTR1","MAD1L1","MEN1","MFN2","MSTO1","MT-ND5","MT-RNR1","MT-TF","MT-TH","MT-TK","MT-TL1","MT-TP","MT-TQ","MT-TS1","MT-TS2","NF2","PIK3CA","PTEN","RPL10","SDHB","SDHC","SDHD","SEC23B","SMARCB1","SPRED1","TAF1","TBXT","USF3","VANGL1","VANGL2","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CORNEAL_EROSION":{"collection":"C5:HPO","systematicName":"M38902","pmid":"","exactSource":"HP:0200020","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0200020","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CORNEAL_EROSION","geneSymbols":["ABCA12","ALDH3A2","ALOX12B","ALOXE3","CERS3","CHST6","CLTCL1","COL17A1","COL4A3","COL4A4","COL4A5","COL7A1","CTNS","DCN","ELP1","EPCAM","FERMT1","FGF10","FGFR2","FGFR3","FOXC2","GJB2","GJB6","HLA-B","IKZF1","KIFBP","KRT3","MBTPS2","MMP1","MPV17","NIPAL4","NTRK1","PAX6","PERCC1","PLCG2","PNPLA1","PRDM5","SDR9C7","SLC39A4","SPINT2","SULT2B1","TGFBI","TGM1","TP63","TWIST2","WT1","ZNF469"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DOWN_SLOPING_SHOULDERS":{"collection":"C5:HPO","systematicName":"M38903","pmid":"","exactSource":"HP:0200021","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0200021","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DOWN_SLOPING_SHOULDERS","geneSymbols":["ATP7A","BAZ1B","BCL7B","BCOR","BUD23","CBFB","CHD7","CHRNG","CLIP2","CUL4B","DNAJC30","EFNB1","EIF4H","ELN","EYA1","FIG4","FKBP6","GABRA3","GTF2I","GTF2IRD1","GTF2IRD2","IRX5","LIMK1","LMBRD2","LMNA","METTL27","MLXIPL","NAA10","NCF1","OTUD6B","PAX1","PIEZO2","PPP1R15B","PTCH1","RFC2","RUNX2","SPRTN","STX1A","TBL2","TBX5","TMEM270","TRMT10A","TRPV4","VPS37D"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_OCULAR_PAIN":{"collection":"C5:HPO","systematicName":"M38904","pmid":"","exactSource":"HP:0200026","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0200026","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OCULAR_PAIN","geneSymbols":["AGBL1","BAP1","CHST6","COL17A1","COL8A2","CTNS","CYSLTR2","GNA11","GNAQ","GRHL2","OVOL2","SCN9A","SF3B1","SLC39A14","SLC4A11","TACSTD2","TCF4","TGFBI","VSX1","ZEB1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_VASCULITIS_IN_THE_SKIN":{"collection":"C5:HPO","systematicName":"M46407","pmid":"","exactSource":"HP:0200029","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0200029","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VASCULITIS_IN_THE_SKIN","geneSymbols":["ARPC1B","C1QB","HCK","IL12RB1","PGM3","SYK","TREX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PAPULE":{"collection":"C5:HPO","systematicName":"M38905","pmid":"","exactSource":"HP:0200034","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0200034","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PAPULE","geneSymbols":["AAGAB","ABCC6","AEBP1","AKT1","ANTXR2","AQP5","ATP2A2","BRAF","C4A","CARD14","CCR1","CFTR","CIB1","CLEC7A","COL14A1","COL1A1","COL5A1","COL5A2","COL7A1","CSTA","CTLA4","CYLD","DCLRE1C","ECM1","EGFR","ELOVL4","ERAP1","ERCC4","FAS","FLCN","FLNA","GGCX","GJB2","GJB6","GLMN","GNAQ","GNAS","HAVCR2","HLA-B","HLA-DPA1","HLA-DPB1","IDH1","IFNGR1","IL10","IL12A","IL12A-AS1","IL17F","IL17RA","IL17RC","IL23R","IL6ST","IL7","KIT","KLLN","KLRC4","KRT1","KRT14","KRT5","LDHA","LMNA","LPIN2","LRP1","MBTPS2","MEFV","MVK","NAGA","NF1","NLRP3","NOD2","PEPD","PIGA","PIK3CA","PLEC","POFUT1","POGLUT1","PRTN3","PSENEN","PTEN","PTPN22","SDHB","SDHC","SDHD","SEC23B","SLC17A9","STAT3","STAT4","SUFU","TGM5","TLR4","TMC6","TMC8","TRAF3IP2","UBAC2","USF3","XPA","XYLT1","XYLT2","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SKIN_PLAQUE":{"collection":"C5:HPO","systematicName":"M38906","pmid":"","exactSource":"HP:0200035","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0200035","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SKIN_PLAQUE","geneSymbols":["ADA2","AP1S3","ATP2A2","BTNL2","CARD14","CD28","CFTR","CIB1","COL2A1","COL7A1","CTLA4","EBP","ECM1","GJB2","GJB4","GJB6","GLMN","HAVCR2","HLA-DRB1","IDH1","IFNG","IL36RN","IL7","KDSR","KIT","KRT10","KRT14","KRT5","KRT83","LAMA3","LAMB3","LAMC2","LDHA","LORICRIN","MEFV","MPDU1","PSMB8","RASA1","SDHD","TMC6","TMC8","TNFRSF1B","TRPM4","TSC1","TSC2","UBA1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SKIN_NODULE":{"collection":"C5:HPO","systematicName":"M38907","pmid":"","exactSource":"HP:0200036","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0200036","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SKIN_NODULE","geneSymbols":["ABCA1","ABCC6","ABCG8","ACVR1","AKT1","ANTXR2","APC","APOA1","APOA2","APOB","APOE","ASAH1","ATP2A2","B2M","BCL2","BCL6","BRAF","BTNL2","C4A","CCR1","CDK4","COL1A1","COL3A1","COL5A1","COL5A2","COL7A1","CTNNB1","CYLD","CYP27A1","DACT1","DDIT3","ECM1","ENPP1","EPHX2","ERAP1","FAS","FBN1","FERMT3","FGFR1","FGFR2","FUS","G6PC1","GHR","GJB2","GJB6","GLA","GLMN","GLS","GNAS","HLA-B","HLA-DRB1","HMGA2","IARS2","IDH1","IDH2","IFNG","IFNGR1","IL10","IL12A","IL12A-AS1","IL12B","IL23R","INSR","KIF11","KIF1B","KIT","KLLN","KLRC4","KRAS","LDLR","LEMD3","LPL","LSS","LTV1","MC1R","MDM2","MEFV","MLX","MMP14","MMP2","MYSM1","NAGA","NOTCH3","NRAS","OCRL","PCSK9","PDE11A","PDGFB","PDGFRB","PIK3CA","POMP","PORCN","PPP1R17","PRKAR1A","PTEN","PTH1R","PTPN11","RAF1","SALL1","SDHB","SDHC","SDHD","SEC23B","SLC37A4","SPRED1","STAT4","TEK","TLR4","TNFRSF11A","TNFRSF11B","TSC1","TSC2","TTPA","UBAC2","USF3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SKIN_VESICLE":{"collection":"C5:HPO","systematicName":"M38908","pmid":"","exactSource":"HP:0200037","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0200037","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SKIN_VESICLE","geneSymbols":["ATP2A2","ATP2C1","COL7A1","CTC1","DKC1","DSC3","IL6ST","KRT5","MEFV","NHP2","NOP10","NPM1","PARN","PLEC","POFUT1","POGLUT1","PPOX","PSENEN","RTEL1","SLC35C1","STAT3","TERC","TERT","TINF2","TYMS","USB1","WRAP53"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PUSTULE":{"collection":"C5:HPO","systematicName":"M38909","pmid":"","exactSource":"HP:0200039","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0200039","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PUSTULE","geneSymbols":["ADAM17","AP1S3","CARD14","CIB1","CTSB","CTSC","ECM1","EGFR","HLA-B","IL17RA","IL1R1","IL1RN","IL36RN","IL7","JAK3","LDHA","LPIN2","MEFV","MRTFA","PSTPIP1","SCNN1A","SCNN1B","SCNN1G","SLC39A4","STING1","TMC6","TMC8"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_EPIDERMOID_CYST":{"collection":"C5:HPO","systematicName":"M38910","pmid":"","exactSource":"HP:0200040","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0200040","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EPIDERMOID_CYST","geneSymbols":["ANTXR1","APC","CDH1","CEP57","CTNND1","IFNG","KRT16","KRT17","KRT5","KRT6A","KRT6B","POFUT1","POGLUT1","PSENEN","TSC1","TSC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SKIN_EROSION":{"collection":"C5:HPO","systematicName":"M38911","pmid":"","exactSource":"HP:0200041","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0200041","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SKIN_EROSION","geneSymbols":["ARL6IP6","ATP2C1","COL2A1","COL7A1","CSTA","DSP","ECM1","EPHB4","GATA1","GNA11","ITGB4","KIT","KRT1","KRT10","KRT14","KRT5","LAMA3","LAMB3","LAMC2","LMNA","NAXE","PLEC","PPOX","RIPK4","TGM5","UROD","UROS","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SKIN_ULCER":{"collection":"C5:HPO","systematicName":"M38912","pmid":"","exactSource":"HP:0200042","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0200042","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SKIN_ULCER","geneSymbols":["ADA2","AK2","ANK1","ANTXR2","AQP5","ATL1","ATL3","ATRX","BMS1","BRAF","BTK","CAV1","CCN2","CCR6","CCT5","CD28","CDH23","CLEC7A","CLPB","COL1A1","COL3A1","CTC1","CTLA4","CYBA","CYBB","CYBC1","DKC1","DLL4","DOCK8","ELANE","EPB42","EPHB4","F12","GBA1","GBE1","GFI1","GNAQ","HAVCR2","HBB","HLA-B","HLA-DPA1","HLA-DPB1","HLA-DRB1","IDH1","IDH2","IKBKG","IL12B","IL17F","IL17RA","IL17RC","IL6ST","IRF5","ITGB2","ITGB4","KIAA0319L","KIF11","KIF1A","KRT1","KRT10","LAMA3","LBR","LMNA","LYST","MBTPS2","MEFV","MLX","MPV17","NCF1","NCF2","NCF4","NFKB1","NGF","NHP2","NOD2","NOP10","NOTCH2","NOTCH3","NPM1","NR3C1","NTRK1","OCRL","OTULIN","P4HA2","PARN","PDGFB","PDGFRB","PEPD","PERP","PGM3","PIGL","PLEC","PROS1","PRTN3","PSTPIP1","PTH1R","PTPN22","RASA1","RETREG1","RTEL1","SBF2","SCN9A","SLC39A4","SLC4A1","SPTA1","SPTB","SPTLC1","SPTLC2","SRP19","SRP54","STAT3","TAP1","TAP2","TAPBP","TCIRG1","TERC","TERT","TINF2","TNFRSF1B","TP53","TP63","TRAF3IP2","TREX1","TRPV3","TYMS","UBA2","USB1","USP48","USP8","WAS","WDR1","WIPF1","WNK1","WRAP53","WRN"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_VERRUCAE":{"collection":"C5:HPO","systematicName":"M38913","pmid":"","exactSource":"HP:0200043","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0200043","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VERRUCAE","geneSymbols":["ATP2A2","BLNK","CARMIL2","CD4","CD79A","CD79B","CIB1","CXCR4","DCLRE1C","DOCK8","ECM1","FCN3","GATA2","IGHM","IGLL1","IKBKG","IL7","IVNS1ABP","LRRC8A","PIK3R1","RHOH","SASH3","SLC39A7","SPI1","STK4","TCF3","TMC6","TMC8"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_POROKERATOSIS":{"collection":"C5:HPO","systematicName":"M38914","pmid":"","exactSource":"HP:0200044","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0200044","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POROKERATOSIS","geneSymbols":["ANAPC1","FDPS","MVD","MVK","PMVK","RECQL4","RNU12","SLC17A9"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CYANOTIC_EPISODE":{"collection":"C5:HPO","systematicName":"M38915","pmid":"","exactSource":"HP:0200048","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0200048","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CYANOTIC_EPISODE","geneSymbols":["GABRA1","GABRG2","PCDH19","PSAT1","SCN1A","SCN1B","SCN2A","SCN9A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_UPPER_LIMB_HYPERTONIA":{"collection":"C5:HPO","systematicName":"M41632","pmid":"","exactSource":"HP:0200049","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0200049","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UPPER_LIMB_HYPERTONIA","geneSymbols":["CLDN11","MTPAP","SEPSECS","SPG7","TSEN15","TSEN2","TSEN34","TSEN54","VPS37A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SMALL_HAND":{"collection":"C5:HPO","systematicName":"M38916","pmid":"","exactSource":"HP:0200055","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0200055","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SMALL_HAND","geneSymbols":["ADNP","AFF4","ALG13","BPTF","BRD4","CACNA2D1","CANT1","CCBE1","CDK10","CDKL5","CENPE","CHUK","CNOT3","COG1","COG4","COL11A1","COL3A1","CSGALNACT1","CTNND2","CTSK","CUL4B","DLK1","DPH1","DPH2","DPM1","DVL1","EVC","EVC2","FAM50A","FBN1","FBXO11","FBXO28","FGD1","FGFR2","FMR1","GABBR2","GALNT2","GJA1","HDAC4","HDAC8","HERC2","HPGD","HTT","HUWE1","IGF1R","IGF2","KCNJ2","KCNJ5","KDM6A","KIF5C","KIFBP","KMT2A","KMT2D","LAS1L","LIG4","LTBP3","MAGEL2","MAPK8IP3","MCTP2","MECP2","MEG3","MIR140","MKRN3","MTFMT","NALCN","NDN","NGLY1","NIPBL","NPAP1","NSUN2","NTNG1","OCA2","ORC1","PCGF2","PIGN","POC1A","PPM1D","PRIM1","PUM1","PWAR1","PWRN1","RAD21","RECQL4","RMRP","RNF2","ROR2","RTL1","SATB1","SATB2","SEMA5A","SIM1","SIN3A","SLC6A17","SLCO2A1","SMARCD1","SMC1A","SMC3","SNORD115-1","SNORD116-1","SNRPN","SON","SPECC1L","TBCE","TCF4","TELO2","TRPV4","TUBB3","UNC80","USP7","USP9X","WDR81","WNT5A","WRN","XYLT1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MACULAR_SCAR":{"collection":"C5:HPO","systematicName":"M46408","pmid":"","exactSource":"HP:0200056","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0200056","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MACULAR_SCAR","geneSymbols":["CFI","HLA-A","NMNAT1","SH3BP2","TNFRSF11B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ANGIOSARCOMA":{"collection":"C5:HPO","systematicName":"M47339","pmid":"","exactSource":"HP:0200058","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0200058","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANGIOSARCOMA","geneSymbols":["ANGPT2","EPHB4","FLT4","GJC2","PIEZO1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_COLORECTAL_POLYPOSIS":{"collection":"C5:HPO","systematicName":"M38918","pmid":"","exactSource":"HP:0200063","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0200063","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_COLORECTAL_POLYPOSIS","geneSymbols":["AKT1","APC","AXIN2","BMPR1A","CDKN2A","CHEK2","DICER1","GREM1","KEAP1","KLLN","MDM2","MSH3","MUTYH","PIK3CA","POLD1","POLE","PTEN","RNF43","SDHB","SDHC","SDHD","SEC23B","TP53","USF3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CHORIORETINAL_DEGENERATION":{"collection":"C5:HPO","systematicName":"M38919","pmid":"","exactSource":"HP:0200065","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0200065","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHORIORETINAL_DEGENERATION","geneSymbols":["ACVRL1","ADAMTS18","C1QTNF5","CFH","CFI","CHM","CLCN2","COL18A1","COL8A2","CRB1","CRX","CTNNB1","CYP4V2","DPP6","EFEMP1","EYS","FSCN2","FZD4","GRHL2","GUCA1A","GUCY2D","HADHA","HMX1","JAG1","KRAS","LCA5","LRAT","LRP5","NDE1","NDP","NRL","OAT","OVOL2","PAX2","PNPLA6","POU3F4","PRPH2","RNU7-1","ROM1","RP2","RPE65","SAG","SLC25A15","SPATA7","TEAD1","TIMP3","TSPAN12","VCAN","VSX1","ZEB1","ZNF408"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RESPIRATORY_INSUFFICIENCY_DUE_TO_DEFECTIVE_CILIARY_CLEARANCE":{"collection":"C5:HPO","systematicName":"M38921","pmid":"","exactSource":"HP:0200073","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0200073","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RESPIRATORY_INSUFFICIENCY_DUE_TO_DEFECTIVE_CILIARY_CLEARANCE","geneSymbols":["CCDC65","CFAP298","DNAAF11","DNAAF5","HYDIN","ODAD1","ODAD2","ODAD3","SPAG1","ZMYND10"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_GIANT_CELL_HEPATITIS":{"collection":"C5:HPO","systematicName":"M45508","pmid":"","exactSource":"HP:0200084","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0200084","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GIANT_CELL_HEPATITIS","geneSymbols":["AKR1D1","AMACR","HSD3B7","VIPAS39","VPS33B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LIMB_TREMOR":{"collection":"C5:HPO","systematicName":"M38922","pmid":"","exactSource":"HP:0200085","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0200085","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIMB_TREMOR","geneSymbols":["ANO3","CACNA1G","CARS2","CDC42BPB","CIZ1","CLN5","COL6A3","DDC","GRIA3","ITPA","ITPR1","LMNB1","MPZ","PEX16","PGAP1","PLA2G6","PMP22","SLC12A6","SNRPN","TUBB4A","UBE3A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ORAL_MUCOSAL_BLISTERS":{"collection":"C5:HPO","systematicName":"M38924","pmid":"","exactSource":"HP:0200097","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0200097","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ORAL_MUCOSAL_BLISTERS","geneSymbols":["COL17A1","COL7A1","DSG3","ITGA6","ITGB4","KRT14","KRT5","LAMA3","LAMB3","LAMC2","MMP1","PLEC"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABSENT_SKIN_PIGMENTATION":{"collection":"C5:HPO","systematicName":"M41633","pmid":"","exactSource":"HP:0200098","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0200098","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_SKIN_PIGMENTATION","geneSymbols":["KIT","MC1R","OCA2","TYR","TYRP1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DECREASED_ABSENT_ANKLE_REFLEXES":{"collection":"C5:HPO","systematicName":"M38925","pmid":"","exactSource":"HP:0200101","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0200101","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_ABSENT_ANKLE_REFLEXES","geneSymbols":["AARS1","ALDH18A1","ARL6IP1","ATP6AP2","ATXN3","CADM3","CCDC47","CRYAB","DYSF","GBE1","GJB1","GNB4","GNE","HARS1","HINT1","HSPB3","KLC2","KLHL9","MFN2","MORC2","MRE11","NEFL","OPA1","OPA3","PDK3","PEX10","PGM3","PLEKHG4","PMP2","POLG","POLG2","RAB7A","RAI1","REEP1","RRM2B","SACS","SIGMAR1","SLC25A4","SMN1","SMN2","SQSTM1","TOR1A","TWNK","VCP","VPS13A","WARS1","XK"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SPARSE_OR_ABSENT_EYELASHES":{"collection":"C5:HPO","systematicName":"M38926","pmid":"","exactSource":"HP:0200102","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0200102","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPARSE_OR_ABSENT_EYELASHES","geneSymbols":["ALX1","ALX4","ANAPC1","ANTXR1","APCDD1","B4GALT7","BANF1","BLM","BRAF","CDH3","CLDN1","COL11A1","CST6","CWC27","DKC1","DLX4","DOLK","DPH1","DPH5","DSC3","DSG4","DSP","EBP","EDA","EDAR","EDARADD","EDNRA","EPS8L3","FAM111B","FGF10","FIG4","FRAS1","GJA1","GJB2","GJB6","GTPBP2","HOXC13","HR","HRURF","IRX5","ITGA3","JUP","KANK2","KRAS","KREMEN1","KRT25","KRT71","KRT74","KRT85","LIPH","LMNA","LPAR6","LRP1","LSS","LTV1","MAP2K1","MAP2K2","MBTPS2","MPLKIP","NECTIN1","NECTIN4","NF1","NHP2","NOP10","ODC1","PHGDH","PKP1","POLR1B","POLR1C","POLR1D","POLR3A","RECQL","RECQL4","RIPK4","RMRP","RNU12","RNU4ATAC","RPL21","SF3B4","SMARCA2","SNRPE","SOX18","SPINK5","ST14","TCOF1","TP63","TRPS1","TSR2","TWIST2","TYMS","VAC14","WDR35","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_METABOLIC_ALKALOSIS":{"collection":"C5:HPO","systematicName":"M38928","pmid":"","exactSource":"HP:0200114","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0200114","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_METABOLIC_ALKALOSIS","geneSymbols":["BSND","CACNA1D","CLCN2","CLCNKA","CLCNKB","HLA-B","HSD11B2","IKZF1","KCNJ1","KCNJ10","KCNJ5","NARS2","NR3C1","SCNN1A","SCNN1G","SLC12A1","SLC12A3","SLC26A3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RECURRENT_UPPER_AND_LOWER_RESPIRATORY_TRACT_INFECTIONS":{"collection":"C5:HPO","systematicName":"M38929","pmid":"","exactSource":"HP:0200117","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0200117","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_UPPER_AND_LOWER_RESPIRATORY_TRACT_INFECTIONS","geneSymbols":["AICDA","DCLRE1C","GLI3","MDFIC","MGAT2","PIK3CD","PIK3R1","PTEN","RAG1","RAG2","SCNN1A","SCNN1B","SCNN1G","UNG","USP9X","ZAP70"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CHRONIC_HEPATITIS":{"collection":"C5:HPO","systematicName":"M38931","pmid":"","exactSource":"HP:0200123","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0200123","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHRONIC_HEPATITIS","geneSymbols":["AIRE","ALMS1","C4B","CD40LG","CIITA","HBB","IL21R","PGM1","RFX5","RFXANK","RFXAP","SKIC2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CHRONIC_HEPATITIS_DUE_TO_CRYPTOSPORIDIUM_INFECTION":{"collection":"C5:HPO","systematicName":"M38932","pmid":"","exactSource":"HP:0200124","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0200124","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHRONIC_HEPATITIS_DUE_TO_CRYPTOSPORIDIUM_INFECTION","geneSymbols":["CIITA","IL21R","RFX5","RFXANK","RFXAP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MITOCHONDRIAL_RESPIRATORY_CHAIN_DEFECTS":{"collection":"C5:HPO","systematicName":"M38933","pmid":"","exactSource":"HP:0200125","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0200125","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MITOCHONDRIAL_RESPIRATORY_CHAIN_DEFECTS","geneSymbols":["CAMKMT","CYP27A1","DNAJC30","FBXL4","MT-ATP6","MT-CO1","MT-CO3","MT-CYB","MT-ND1","MT-ND2","MT-ND4","MT-ND4L","MT-ND5","MT-ND6","NDUFS2","PNPT1","PPM1B","PREPL","SLC3A1","TRMU"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BIVENTRICULAR_HYPERTROPHY":{"collection":"C5:HPO","systematicName":"M38934","pmid":"","exactSource":"HP:0200128","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0200128","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BIVENTRICULAR_HYPERTROPHY","geneSymbols":["ALG12","ATP6V1E1","CACNA1D","DEF6","MYH7","MYL2","MYRF","NDUFA11","PRKAG2","TALDO1","TNNC1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_EPILEPTIC_ENCEPHALOPATHY":{"collection":"C5:HPO","systematicName":"M38935","pmid":"","exactSource":"HP:0200134","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0200134","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EPILEPTIC_ENCEPHALOPATHY","geneSymbols":["AARS1","ADAM22","AFF3","ALG9","AP2M1","AP3B2","ARHGEF9","ARV1","ARX","ATP6V1A","BOLA3","CACNA1A","CACNA1B","CACNA1E","CACNA2D2","CAD","CARS2","CDKL5","CELF2","CHD2","CHKA","CLCN4","CNPY3","COQ4","CPLX1","CRLS1","CUX2","CYFIP2","DCX","DENND5A","DHDDS","DNM1","DNM1L","DOCK7","DPAGT1","DPM2","EEF1A2","FCSK","FGF12","FRRS1L","GABBR2","GABRA1","GABRB1","GABRB2","GABRB3","GABRG2","GLS","GNAO1","GRIN1","GRIN2A","GRIN2B","GRIN2D","GUF1","HCN1","HNRNPR","HNRNPU","KCNA2","KCNB1","KCNC2","KCNQ2","KCNQ5","KCNT1","KCNT2","KMT2E","MAST3","MDH1","MDH2","MEF2C","NAPB","NECAP1","NEUROD2","NEXMIF","NRXN1","NSF","NTRK2","NUS1","PACS2","PAFAH1B1","PARS2","PHACTR1","PIGA","PIGP","PLCB1","PMPCB","PNPO","PPP3CA","RNF13","ROGDI","SCN1A","SCN1B","SCN2A","SCN3A","SCN8A","SIK1","SLC13A5","SLC1A2","SLC25A12","SLC25A22","SLC2A1","SLC35A2","SLC38A3","SLC6A1","SPTAN1","ST3GAL3","STAG1","STXBP1","SYNGAP1","SYNJ1","SZT2","TBC1D24","TRIT1","TWNK","UBA5","UGDH","WWOX","ZNF668"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ORAL_PHARYNGEAL_DYSPHAGIA":{"collection":"C5:HPO","systematicName":"M38936","pmid":"","exactSource":"HP:0200136","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0200136","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ORAL_PHARYNGEAL_DYSPHAGIA","geneSymbols":["ADCY6","ADNP","ARHGAP29","ARHGEF38","ASPA","ATP1A2","ATP1A3","BMP4","CACNA1A","CDH1","CNTNAP1","COBLL1","CTNS","DLG1","DLX4","EXOSC9","FLCN","GIPC1","GRHL3","GRIN1","HTT","IRF6","LRP12","MSX1","MTRFR","NECTIN1","NGLY1","NOTCH2NLC","PDGFRA","RAI1","RIC1","RILPL1","SCUBE3","SEPSECS","SLC1A3","SLC2A3","TAF1","TANGO2","TP63","TSEN15","TSEN2","TSEN34","TSEN54","UBB","YY1","ZNF699"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CSF_LYMPHOCYTIC_PLEIOCYTOSIS":{"collection":"C5:HPO","systematicName":"M43589","pmid":"","exactSource":"HP:0200149","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0200149","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CSF_LYMPHOCYTIC_PLEIOCYTOSIS","geneSymbols":["ADAR","ATP1A2","CACNA1A","IFIH1","IRF3","LSM11","PRRT2","RNASEH2A","RNASEH2B","RNASEH2C","RNU7-1","SAMHD1","SCN1A","TBK1","TICAM1","TLR3","TRAF3","TREX1","UNC93B1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_AGENESIS_OF_LATERAL_INCISOR":{"collection":"C5:HPO","systematicName":"M38938","pmid":"","exactSource":"HP:0200153","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0200153","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AGENESIS_OF_LATERAL_INCISOR","geneSymbols":["ARHGAP29","ARHGEF38","AXIN2","B3GLCT","BCOR","BLM","BMP4","CDH1","COBLL1","DLG1","DLX4","EDA","EDARADD","ERCC3","FGFR1","IRF6","LRP6","MSX1","NAA10","NECTIN1","PAX9","PDGFRA","RIC1","SUMO1","TGFA","TP63","WNT10A","WNT10B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_AGENESIS_OF_MAXILLARY_INCISOR":{"collection":"C5:HPO","systematicName":"M38939","pmid":"","exactSource":"HP:0200160","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0200160","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AGENESIS_OF_MAXILLARY_INCISOR","geneSymbols":["AXIN2","B3GLCT","BCOR","BLM","EDA","EDARADD","ERCC3","FGFR1","IRF6","LRP6","MSX1","NAA10","PAX9","RIPK4","SUMO1","TGFA","WNT10A","WNT10B"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_TALL_CHIN":{"collection":"C5:HPO","systematicName":"M41634","pmid":"","exactSource":"HP:0400000","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0400000","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TALL_CHIN","geneSymbols":["APC2","EIF2S3","MYH8","NSD1","OPHN1","SETD2","TLK2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_LONG_EAR":{"collection":"C5:HPO","systematicName":"M43590","pmid":"","exactSource":"HP:0400004","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0400004","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LONG_EAR","geneSymbols":["DPYD","EED","EIF5A","KDM3B","STT3A","WNT7A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MENOMETRORRHAGIA":{"collection":"C5:HPO","systematicName":"M38940","pmid":"","exactSource":"HP:0400008","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0400008","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MENOMETRORRHAGIA","geneSymbols":["FGA","FGB","FGG","ITGA2B","ITGB3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_THE_PERIPHERAL_NERVOUS_SYSTEM":{"collection":"C5:HPO","systematicName":"M38941","pmid":"","exactSource":"HP:0410008","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0410008","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_PERIPHERAL_NERVOUS_SYSTEM","geneSymbols":["AAAS","AARS1","ABCD1","ABHD12","ACOX1","ACTG2","ADH1C","AHI1","AIFM1","AKAP9","ALS2","ANK2","APC2","ARHGEF10","ARHGEF2","ARL13B","ARL3","ARL6","ARMC9","ARSA","ARVCF","ARX","ASCL1","ATL1","ATL3","ATP11A","ATP1A2","ATP1A3","ATP7A","ATP7B","ATRX","ATXN1","ATXN10","ATXN2","ATXN3","ATXN8OS","B2M","B9D1","B9D2","BBS1","BCOR","BDNF","BRAT1","BRCA1","BRCA2","BRIP1","BSCL2","CACNA1A","CACNA1C","CACNA1S","CADM3","CALM1","CALM2","CALM3","CAV1","CAV3","CBY1","CC2D2A","CCDC28B","CCT5","CDON","CEP104","CEP120","CEP126","CEP290","CEP41","CHCHD10","CHCHD2","CHRNA3","CISD2","CNTNAP1","COL1A1","COL25A1","COL5A1","COL5A2","COMP","COMT","COQ2","CPLANE1","CSPP1","CTDP1","CYB561","CYP11B2","CYP27A1","DBH","DCAF8","DDX3X","DDX59","DEGS1","DEPDC5","DHCR7","DHH","DHX16","DIAPH3","DISP1","DLL1","DNAJB6","DNAJC13","DNAJC3","DNAJC6","DNM2","DYSF","EBP","ECE1","EDN3","EDNRB","EGR2","EIF4G1","ELP1","EMILIN1","EPM2A","ERBB2","ERBB3","ERCC3","ERCC4","ERCC6","ERCC8","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FBLN5","FBN1","FBXO38","FBXO7","FGD4","FGF8","FGFR1","FIG4","FLNC","FLVCR1","FMR1","FOXF1","FOXH1","FXN","GABBR2","GABRA3","GALC","GARS1","GAS1","GATA1","GBA1","GBE1","GCK","GDAP1","GDNF","GFAP","GFM2","GIGYF2","GJB1","GJC2","GLA","GLI2","GLUD2","GMPPA","GNB2","GP1BB","GSN","HEXB","HIKESHI","HINT1","HIRA","HK1","HPDL","HSD17B4","HSPB1","HSPB8","HTRA2","HYCC1","HYLS1","IDUA","IFT74","IGHMBP2","IL12A","IL12RB1","IL6ST","INPP5E","IRF5","ITPR3","JMJD1C","JPH1","KARS1","KATNIP","KCNE1","KCNE2","KCNH2","KCNJ18","KCNJ5","KCNQ1","KIAA0586","KIAA0753","KIF1A","KIF1B","KIFBP","KIT","KITLG","KRAS","L1CAM","LAMA2","LBX1","LEP","LEPR","LGI1","LIFR","LIG3","LITAF","LMNA","LMNB1","LRRK2","LRSAM1","LTBP3","LYST","MAD2L2","MAPT","MARCHF6","MATR3","MBTPS2","MECP2","MED25","MEGF10","MFF","MFN2","MITF","MKKS","MKS1","MMEL1","MOGS","MORC2","MPV17","MPZ","MT-TT","MTMR2","MTRFR","MYH14","MYH3","MYO1H","NAA10","NALCN","NDRG1","NEFL","NEU1","NFASC","NGLY1","NHLRC1","NMNAT1","NODAL","NOS1AP","NOTCH2NLC","NPHP1","NPTX1","NR4A2","NRTN","NSD1","NTRK1","OFD1","OPA1","OTOF","PALB2","PARK7","PAX3","PDE6D","PDK3","PEX6","PGAP2","PGAP3","PHOX2B","PIBF1","PIGL","PIGN","PIGO","PIGV","PIGW","PIGY","PINK1","PLA2G6","PLCH1","PLEKHG5","PLOD1","PLP1","PMP2","PMP22","PNKP","PNPT1","PODXL","POLG","POLR3A","POU2AF1","PPOX","PRDX3","PRKN","PRNP","PRPS1","PRX","PSAP","PTCH1","PTRH2","RAB7A","RAD21","RAD51","RAD51C","RAI1","REEP1","RELN","RET","RETREG1","RFC1","RFWD3","RIPOR2","RMRP","RPGRIP1L","RREB1","RRM2B","SACS","SALL4","SAMD12","SAMD9L","SBF1","SBF2","SCN10A","SCN11A","SCN3A","SCN4B","SCN5A","SCN9A","SCP2","SEC24C","SEMA3C","SEMA3D","SEMA6B","SEPTIN9","SETBP1","SETD2","SETX","SF3B4","SH2B1","SH3TC2","SHH","SIGMAR1","SIM1","SIX3","SLC12A6","SLC18A2","SLC1A3","SLC25A15","SLC5A7","SLC6A2","SLC6A8","SLX4","SMC1A","SMO","SNAI2","SNAP29","SNCA","SNCAIP","SNTA1","SORD","SOX10","SPG11","SPG21","SPIB","SPTBN4","SPTLC1","SPTLC2","SREBF1","STAG2","STARD7","STIL","SUCLA2","SUFU","SUMF1","SYNE1","SYNJ1","SYT2","TBC1D20","TBC1D24","TBP","TBX1","TBX5","TCF4","TCTN1","TCTN2","TCTN3","TDGF1","TDP1","TFG","TGIF1","TIMM8A","TMEM138","TMEM216","TMEM218","TMEM231","TMEM237","TMEM67","TNFSF15","TNPO3","TOGARAM1","TPI1","TRDN","TRIM2","TRPV4","TSPYL1","TTPA","TTR","TUBA1A","TUBB3","TWNK","TXN2","TYMP","TYR","UBA1","UBE2T","UCHL1","UFD1","UQCRC1","VAMP1","VCP","VPS11","VPS13A","VPS13C","VPS35","WDR45","WFS1","WNK1","XRCC2","YARS1","YEATS2","YME1L1","ZEB2","ZFHX4","ZIC2","ZNF423"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_RECURRENT_EAR_INFECTIONS":{"collection":"C5:HPO","systematicName":"M38942","pmid":"","exactSource":"HP:0410018","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0410018","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_EAR_INFECTIONS","geneSymbols":["ALG12","CLPB","DDOST","ELANE","FHL1","FOXP2","GFI1","IDS","KNSTRN","LEP","MBD5","ODC1","PIK3CD","SP110","SPTBN1","SRP19","SRP54","TCEAL1","TCIRG1","UBE2A"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_EPIGASTRIC_PAIN":{"collection":"C5:HPO","systematicName":"M38943","pmid":"","exactSource":"HP:0410019","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0410019","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EPIGASTRIC_PAIN","geneSymbols":["ALMS1","CD46","CFH","CFI","CTNNB1","CTRC","HELLPAR","MET","SPINK1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CLEFT_LIP":{"collection":"C5:HPO","systematicName":"M38944","pmid":"","exactSource":"HP:0410030","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0410030","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CLEFT_LIP","geneSymbols":["ACTB","ADA2","ALX3","ALX4","AMER1","ANKRD17","ARHGAP31","ASXL1","B3GLCT","BCOR","BMP4","C2CD3","CC2D2A","CCDC32","CDH1","CDON","CEP120","CHD7","CHST14","CHUK","CILK1","COLEC10","COLEC11","CPLANE1","CPLX1","CTBP1","CTNND1","CYP26C1","DDX3X","DDX59","DEAF1","DHODH","DISP1","DLL1","DLX4","DSE","DVL1","DVL3","DYNC2H1","DYNC2I1","DYNC2I2","DYNC2LI1","EFNB1","EIF2S3","EPG5","ESCO2","EVC","EVC2","FAM20C","FBXO11","FGD1","FGF20","FGF8","FGFR1","FGFRL1","FKRP","FKTN","FLII","FLNB","FLRT3","FOXA2","FOXC2","FOXF1","FOXH1","FRAS1","FREM2","FZD2","GAS1","GATA1","GDF11","GFRA1","GJA1","GLI2","GLI3","GPC3","GPC4","GREB1L","GRHL3","GRIP1","H4C3","HEATR3","HESX1","HOXD13","HYLS1","IFT57","IFT80","INTS1","INTU","IQSEC2","IRF6","ITGA8","JARID2","JUP","KANSL1","KAT5","KATNIP","KIF7","LARGE1","LETM1","LHX4","LMX1B","MASP1","MED12","MEIS2","MEOX1","MID1","MKS1","MSX1","MSX2","MTHFR","MYL11","NAA10","NBN","NECTIN1","NEK1","NELFA","NIPBL","NODAL","NSD2","NSDHL","NSMF","NUAK2","NUP107","OCLN","OFD1","OTX2","PAX3","PHF8","PHGDH","PIGG","PIGL","PIGN","PIGV","PLCH1","POLR1B","POLR1C","POLR1D","POMT1","POMT2","PORCN","POU1F1","PROKR2","PROP1","PTCH1","RAB5IF","RAI1","RERE","RET","RIC1","RIPK4","RPGRIP1L","RPL11","RPL15","RPL18","RPL26","RPL27","RPL31","RPL35","RPL35A","RPL5","RPL8","RPL9","RPS10","RPS15A","RPS17","RPS19","RPS20","RPS24","RPS26","RPS27","RPS28","RPS29","RPS7","RSPO2","SEMA3E","SF3B2","SF3B4","SHH","SIX3","SLC29A3","SLC2A10","SMAD4","SMC1A","SMCHD1","SMG9","SMO","SMOC1","SMPD4","SNRPB","SPECC1L","SPOP","STAG2","STIL","SUMO1","TAPT1","TBX2","TCOF1","TCTN2","TCTN3","TDGF1","TFAP2A","TFE3","TGDS","TGIF1","TMCO1","TP63","TRAPPC9","TRRAP","TSR2","TXNL4A","UBB","VANGL2","VAX1","WDR35","WLS","WNT3","WNT4","WNT5A","WNT9B","YAP1","ZIC2","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_LIVER_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M38946","pmid":"","exactSource":"HP:0410042","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0410042","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LIVER_MORPHOLOGY","geneSymbols":["ABCA1","ABCA12","ABCB11","ABCB4","ABCC2","ABCC6","ABCC8","ABCD3","ABCG5","ABCG8","ABHD5","ACAD9","ACADM","ACADS","ACADVL","ACAT1","ACOX1","ACP5","ACSL5","ACTG2","ACVR2B","ACVRL1","ADA","ADA2","ADAMTSL2","ADAR","ADK","AGA","AGGF1","AGL","AGPAT2","AGR2","AHCY","AIRE","AKR1D1","AKT2","ALDH1A2","ALDOA","ALDOB","ALG1","ALG13","ALG2","ALG5","ALG8","ALG9","ALMS1","AMACR","ANK1","ANKRD55","ANKS6","ANTXR1","AP1B1","AP1S1","AP3B1","AP3D1","APC","APOA1","APOB","APOC2","APOE","ARG1","ARHGAP31","ARL13B","ARL6","ARMC5","ARSB","ASAH1","ASL","ASS1","ASXL1","ATAD3A","ATP5F1A","ATP5F1D","ATP5F1E","ATP5MK","ATP6AP1","ATP6AP2","ATP6V1B2","ATP7A","ATP7B","ATP8B1","ATPAF1","ATPAF2","ATRX","AUH","AXIN1","B2M","B4GALT1","B9D1","B9D2","BAAT","BAP1","BBIP1","BBS1","BBS10","BBS12","BBS2","BBS4","BBS5","BBS7","BBS9","BCS1L","BICC1","BLM","BLNK","BMP2","BMP6","BMPER","BOLA3","BRCA1","BRCA2","BSCL2","BTD","BTK","BTNL2","C1QBP","C1S","C2orf69","C4B","CA2","CALR","CARS2","CASP10","CASP8","CASR","CASZ1","CAV1","CAVIN1","CBL","CBS","CC2D2A","CCDC115","CCDC28B","CCDC47","CD19","CD247","CD27","CD28","CD3D","CD3E","CD40LG","CD55","CD70","CD79A","CD79B","CD81","CD96","CDAN1","CDIN1","CDKN1C","CDKN2A","CEACAM3","CEACAM6","CEP164","CEP19","CEP290","CFAP418","CFTR","CHD7","CIDEC","CIITA","CLCA4","CLCN7","CLDN1","CLEC7A","CLPB","CNTNAP2","COA8","COG1","COG4","COG5","COG6","COG7","COG8","CORIN","COX14","COX15","COX4I2","COX5A","CP","CPOX","CPT1A","CPT2","CR2","CSPP1","CTC1","CTLA4","CTNNB1","CTNS","CTSA","CTSC","CTSK","CYBA","CYBB","CYBC1","CYP19A1","CYP7A1","CYP7B1","DAXX","DCDC2","DCLRE1C","DCTN4","DDOST","DDRGK1","DEF6","DGUOK","DHCR7","DHDDS","DHFR","DIS3L2","DKC1","DLD","DLK1","DLL4","DNAJB11","DNAJC19","DNAJC21","DNASE1L3","DNASE2","DOCK2","DOCK6","DPAGT1","DPM1","DPM2","DYNC2H1","DYNC2I1","DYNC2I2","DYNC2LI1","DZIP1L","EARS2","EDNRA","EFL1","EIF2AK3","ELN","ENG","ENPP1","EOGT","EPB42","ERBB3","ERCC1","ERCC4","ERCC6","ERCC8","ETFA","ETFB","ETFDH","EWSR1","EXTL3","F5","FADD","FAH","FAM111B","FARS2","FARSA","FARSB","FAS","FASLG","FBN1","FBP1","FCGR2A","FDX2","FECH","FERMT3","FGA","FGFR2","FLNC","FLT1","FOCAD","FOS","FOXP3","FOXRED1","FTH1","FTL","FUCA1","G6PC1","G6PC3","GAA","GABRD","GALE","GALK1","GALM","GALNS","GALT","GANAB","GATA2","GBA1","GBE1","GCDH","GCLC","GDF2","GFM1","GIMAP5","GLB1","GLIS3","GLRX5","GNAS","GNB2","GNE","GNMT","GNPTAB","GNS","GPC3","GPC4","GPD1","GPIHBP1","GPR35","GSTM3","GUCY2D","GUSB","HADH","HADHA","HADHB","HAMP","HAVCR2","HBA1","HBA2","HBB","HBG1","HBG2","HCK","HEPACAM","HEXB","HFE","HGSNAT","HJV","HLA-DRB1","HMGCL","HMGCS2","HMOX1","HNF1A","HNF1B","HNF4A","HNRNPA1","HNRNPA2B1","HPGD","HSD17B4","HSD3B7","HSPG2","HYMAI","HYOU1","IARS1","ICOS","IDS","IDUA","IFIH1","IFNG","IFNGR1","IFT122","IFT140","IFT172","IFT27","IFT43","IFT74","IFT80","IGF2","IGF2R","IGHG2","IGHM","IGKC","IGLL1","IKBKG","IL12A","IL12RB1","IL17F","IL17RA","IL17RC","IL18BP","IL1RN","IL21R","IL2RA","IL2RB","IL2RG","IL6","IL6ST","IL7R","INPP5E","INPPL1","INSR","INVS","IQCB1","IRAK4","IRF4","IRF5","IRF8","ITCH","ITK","JAG1","JAK1","JAK2","JAK3","JAM2","JAM3","KCNAB2","KCNH1","KCNJ11","KCNMA1","KCNN3","KCNN4","KCNQ1","KCNQ1OT1","KIF12","KIF20A","KIF3B","KIT","KLF1","KMT2B","KPTN","KRAS","KRIT1","KRT18","LACC1","LAMA5","LARS1","LBR","LCAT","LDLR","LDLRAP1","LIG3","LIG4","LIPA","LIPE","LMBRD1","LMNA","LMNB2","LPIN2","LPL","LRP5","LRPPRC","LRRC8A","LSM11","LTBP3","LUZP1","LYRM4","LYST","LYZ","LZTFL1","LZTR1","MADD","MAGT1","MAN2B1","MAPK8IP3","MARS1","MCCC1","MCM4","MECOM","MED12","MEFV","MEG3","MET","MFN2","MICOS13","MICU1","MIF","MKKS","MKS1","MLXIPL","MMAA","MMAB","MMEL1","MMP23B","MMUT","MOGS","MPC1","MPI","MPL","MPV17","MRAS","MRPL3","MRPL44","MRPS28","MRPS7","MST1","MT-ATP6","MT-ATP8","MT-CYB","MT-ND1","MT-ND2","MT-ND3","MT-ND4","MT-ND5","MT-ND6","MT-TE","MT-TK","MT-TL1","MT-TN","MT-TS1","MT-TV","MT-TW","MTTP","MTX2","MUC5B","MVK","MYBPC3","MYD88","MYL2","MYO5B","MYORG","MYPN","MYRF","NAA10","NAE1","NAF1","NAGA","NAGLU","NAGS","NCF1","NCF2","NCF4","NCKAP1L","NDUFA1","NDUFA11","NDUFA2","NDUFA6","NDUFAF1","NDUFAF2","NDUFAF3","NDUFAF4","NDUFAF5","NDUFAF8","NDUFB10","NDUFB11","NDUFB3","NDUFB9","NDUFS1","NDUFS2","NDUFS3","NDUFS4","NDUFS6","NDUFS7","NDUFS8","NDUFV1","NDUFV2","NEK1","NEK8","NEU1","NEUROG3","NFKBIA","NFS1","NGLY1","NHLRC2","NHP2","NLRP1","NLRP3","NOP10","NOTCH1","NOTCH2","NPC1","NPC2","NPHP1","NPHP3","NPHP4","NPM1","NR1H4","NRAS","NSD2","NSMCE2","NUBPL","OCLN","OFD1","OSTM1","OTUD5","PALB2","PALLD","PARN","PC","PCCA","PCCB","PCK1","PCK2","PCSK9","PDGFB","PDGFRA","PDGFRB","PDGFRL","PDPN","PEPD","PEX1","PEX10","PEX11B","PEX12","PEX13","PEX14","PEX16","PEX19","PEX2","PEX26","PEX3","PEX5","PEX6","PGM1","PHKA2","PHKB","PHKG2","PI4KA","PIEZO1","PIGA","PIGL","PIGM","PIGS","PIK3C2A","PIK3CA","PIK3CD","PIK3CG","PIK3R1","PKD1","PKD2","PKHD1","PKLR","PLAGL1","PLEKHM1","PLIN1","PMM2","PNPLA2","PNPLA6","POLD1","POLG","POLG2","POLR3A","POU2AF1","PPARG","PPP1R21","PRDM16","PRF1","PRIM1","PRKCD","PRKCSH","PRKCZ","PSAP","PSMB10","PSMB4","PSMB8","PSMB9","PSMG2","PSTPIP1","PTEN","PTPN11","PTPN2","PTPN22","PTPRC","PTRH2","PUS7","PYGL","RAB27A","RABL3","RAC2","RAF1","RAG1","RAG2","RASA2","RASGRP1","RBCK1","RBM8A","RBPJ","RECQL4","REL","RERE","RFT1","RFX5","RFXANK","RFXAP","RHAG","RHBDF2","RHCE","RHD","RINT1","RIPK1","RIT1","RMND1","RMRP","RNASEH2A","RNASEH2B","RNASEH2C","RNU4ATAC","RNU7-1","RORC","RPGRIP1","RPGRIP1L","RRAS","RRAS2","RRM2B","RTEL1","RTL1","RUNX1","SAA1","SAMHD1","SAR1B","SASH3","SBDS","SC5D","SCAPER","SCARB2","SCLT1","SCN4A","SCO1","SCO2","SCYL1","SDCCAG8","SDHA","SDHD","SEC63","SEMA4D","SEMA7A","SERPINA1","SERPINC1","SF3B1","SFTPA2","SFTPC","SGSH","SH2D1A","SHPK","SKI","SKIC2","SKIC3","SLC11A1","SLC11A2","SLC17A5","SLC20A2","SLC22A5","SLC25A1","SLC25A13","SLC25A15","SLC25A19","SLC25A20","SLC26A9","SLC29A3","SLC2A1","SLC2A2","SLC30A10","SLC34A2","SLC35C1","SLC37A4","SLC38A3","SLC39A4","SLC39A7","SLC40A1","SLC4A1","SLC51A","SLC51B","SLC6A14","SLC7A7","SLC9A3","SLCO1B1","SLCO1B3","SLCO2A1","SMAD4","SMPD1","SNX10","SNX14","SOCS1","SOS1","SOS2","SOX10","SP110","SPEN","SPI1","SPIB","SPRED2","SPTA1","SPTB","SPTBN1","SRP54","SRSF2","STAT1","STAT3","STAT4","STEAP3","STN1","STOX1","STX11","STX1A","STXBP2","SUCLG1","SUMF1","SURF1","SYK","TALDO1","TARS2","TBX1","TBX19","TCF3","TCF4","TCIRG1","TCN2","TCTN1","TCTN2","TCTN3","TERC","TERT","TET2","TFAM","TFE3","TFR2","TGFB1","TIMMDC1","TINF2","TJP2","TKFC","TKT","TLR8","TMEM107","TMEM126B","TMEM165","TMEM199","TMEM216","TMEM231","TMEM237","TMEM67","TMEM70","TNFRSF11A","TNFRSF13B","TNFRSF13C","TNFRSF1A","TNFRSF1B","TNFSF11","TNFSF15","TNNI3","TNNT2","TNPO3","TOGARAM1","TOM1","TP53","TPP2","TRAC","TRAF3IP1","TRAF3IP2","TRAPPC11","TREX1","TRIM32","TRIM37","TRMT5","TRMU","TRPV6","TSC1","TSC2","TSFM","TTC21B","TTC26","TTC7A","TTC8","TUFM","TULP3","TXNDC15","TYMP","TYMS","UBE4B","UBR1","UCP2","UNC13D","UNC45A","UQCRB","UROD","UROS","USB1","USP18","USP53","VCP","VIPAS39","VPS11","VPS13A","VPS33A","VPS33B","VPS45","VPS4A","WDPCP","WDR19","WDR35","WRAP53","WT1","XIAP","XK","XPR1","XRCC4","XYLT1","YARS1","YARS2","ZAP70","ZFYVE19","ZIC3","ZNF699","ZNFX1","ZPR1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INCREASED_LEVEL_OF_HIPPURIC_ACID_IN_URINE":{"collection":"C5:HPO","systematicName":"M38949","pmid":"","exactSource":"HP:0410066","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0410066","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_LEVEL_OF_HIPPURIC_ACID_IN_URINE","geneSymbols":["BCKDHA","BCKDHB","DBT","HMGCL","PAH","PCCA","PCCB"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INCREASED_LEVEL_OF_L_FUCOSE_IN_URINE":{"collection":"C5:HPO","systematicName":"M38950","pmid":"","exactSource":"HP:0410067","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0410067","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_LEVEL_OF_L_FUCOSE_IN_URINE","geneSymbols":["ACVR1B","APC","CASP10","ERBB2","FGFR2","IL1B","IL1RN","IRF1","KLF6","KRAS","KRT18","MUTYH","PIK3CA","SMAD4","STK11","TP53"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PHYSICAL_URTICARIA":{"collection":"C5:HPO","systematicName":"M38951","pmid":"","exactSource":"HP:0410134","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0410134","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PHYSICAL_URTICARIA","geneSymbols":["ADGRE2","CARMIL2","IL12A","IL12RB1","IRF5","KIT","MMEL1","PLCG2","POU2AF1","SERPING1","SLC27A4","SPIB","SUPT16H","TNFSF15","TNPO3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_EOSINOPHILIC_INFILTRATION_OF_THE_ESOPHAGUS":{"collection":"C5:HPO","systematicName":"M46409","pmid":"","exactSource":"HP:0410151","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0410151","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EOSINOPHILIC_INFILTRATION_OF_THE_ESOPHAGUS","geneSymbols":["DOCK8","DSG1","SMAD3","TGFB1","TGFB2","TGFB3","TGFBR1","TGFBR2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HIPPOCAMPAL_ATROPHY":{"collection":"C5:HPO","systematicName":"M38953","pmid":"","exactSource":"HP:0410170","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0410170","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HIPPOCAMPAL_ATROPHY","geneSymbols":["ABCA7","BICRA","CAMTA1","CPA6","GRM7","NEK1","RNU4ATAC","SLITRK2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPERKETONEMIA":{"collection":"C5:HPO","systematicName":"M41638","pmid":"","exactSource":"HP:0410175","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0410175","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERKETONEMIA","geneSymbols":["COX6B1","GCDH","PHKA2","PHKG2","SLC37A4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CIRCULATING_IGA_LEVEL":{"collection":"C5:HPO","systematicName":"M38954","pmid":"","exactSource":"HP:0410240","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0410240","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_IGA_LEVEL","geneSymbols":["ADA","AICDA","ALG12","ATM","ATP6AP1","B2M","BACH2","BLM","BLNK","BTK","CARD10","CARD11","CASP10","CASP8","CAVIN1","CCND1","CD19","CD247","CD3D","CD3E","CD40","CD40LG","CD79B","CR2","CSNK2A1","CTLA4","DCLRE1C","DNMT3B","FAS","FASLG","GTF2H5","HLA-DQA1","HLA-DQB1","ICOS","IGHG2","IGKC","IGLL1","IKBKG","IL12A","IL12RB1","IL2RA","IL2RG","IL6ST","IL7R","IPO8","IRF2BP2","IRF5","ITCH","IVNS1ABP","JAK3","KNSTRN","LCK","LIG1","LRBA","MMEL1","MOGS","MTOR","MVK","NFE2L2","NFKB2","NFKBIA","NLRP1","OTULIN","PGM3","PIGT","PIK3CD","PIK3CG","PIK3R1","PLCG2","PMM2","POMP","POU2AF1","PRIM1","PRKCD","PSMB8","PTPRC","RAG1","RAG2","RASGRP1","REL","RNF168","SASH3","SPI1","SPIB","STAT2","STING1","SYK","TCF3","TCN2","TNFRSF11A","TNFRSF13B","TNFRSF13C","TNFSF15","TNPO3","TOM1","TYMS","UNG","WAS","ZBTB24","ZNF341"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CIRCULATING_IGE_LEVEL":{"collection":"C5:HPO","systematicName":"M38955","pmid":"","exactSource":"HP:0410241","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0410241","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_IGE_LEVEL","geneSymbols":["ADA","ADAM17","BACH2","BTK","CARD10","CARD11","CARD9","CASP10","CD247","CD40","CD40LG","CDSN","COL7A1","DCLRE1C","DOCK8","DSG1","EGFR","EXTL3","FAS","FASLG","FOXP3","GPC3","GPC4","IKBKG","IL21","IL21R","IL2RA","IL2RG","IL4R","IL6R","IL6ST","IL7R","IPO8","IRAK4","KRT74","KRT9","LCK","MS4A2","NCKAP1L","NFKBIA","NSMCE3","PGM3","PLA2G7","PRKCD","RASGRP1","SPINK5","STAT3","STAT5B","TCF3","TGFB1","TOM1","TYK2","WAS","ZNF341"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CIRCULATING_IGG_LEVEL":{"collection":"C5:HPO","systematicName":"M38956","pmid":"","exactSource":"HP:0410242","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0410242","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_IGG_LEVEL","geneSymbols":["ADA","AICDA","ALG12","ARHGEF1","ATM","ATP6AP1","B2M","BACH2","BLM","BLNK","BTK","CARD10","CASP10","CASP8","CCND1","CD19","CD247","CD3D","CD3E","CD3G","CD40","CD40LG","CD79B","CD81","CNBP","CR2","CSNK2A1","CTLA4","CTPS1","CXCR4","DCLRE1C","DOCK8","EPG5","ERCC2","EXTL3","FAS","FASLG","FNIP1","ICOS","IFIH1","IFNGR1","IGHG2","IGKC","IKBKG","IL21","IL2RB","IL2RG","IL6R","IL6ST","IL7R","IPO8","IRF2BP2","IRF8","ITK","IVNS1ABP","JAK3","KNSTRN","LCK","LIG1","LRBA","MGAT2","MOGS","MS4A1","NAE1","NCKAP1L","NFKB2","NFKBIA","NHLRC2","NLRP1","PGM3","PIK3CD","PIK3CG","PIK3R1","PMM2","POMP","PRIM1","PRKCD","PSMB8","PTPRC","RAC2","RAG1","RAG2","RASGRP1","REL","RNF113A","RNF168","SASH3","SH2D1A","SH3KBP1","SLC5A6","SON","SP110","SPI1","SPINK5","SPPL2A","STAT2","STING1","SYK","TCF3","TCN2","TGFB1","TLR8","TNFRSF11A","TNFRSF13B","TNFRSF13C","TNFRSF9","TOM1","TONSL","TPP2","TRMU","TYMS","UNG","VPS33A","XIAP","ZBTB24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CIRCULATING_IGM_LEVEL":{"collection":"C5:HPO","systematicName":"M38957","pmid":"","exactSource":"HP:0410243","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0410243","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_IGM_LEVEL","geneSymbols":["ADA","ADA2","AICDA","ALG12","ARHGEF1","ATP6AP1","B2M","BACH2","BLM","BLNK","BTK","CARD11","CASP10","CASP8","CD19","CD247","CD40","CD40LG","CD79B","CNBP","CR2","CTLA4","DNMT3B","DOCK8","EXTL3","FAS","FASLG","FNIP1","GPR35","ICOS","IFNGR1","IGHG2","IGKC","IGLL1","IKBKG","IL12A","IL12RB1","IL2RG","IL6R","IL6ST","IRF2BP2","IRF5","IVNS1ABP","JAK3","KLHDC8B","KNSTRN","LAMTOR2","LCK","LIG1","LRBA","MMEL1","MOGS","MST1","MYD88","NAE1","NFKB2","NFKBIA","NSMCE3","OTULIN","PGM3","PIGT","PIK3CD","PIK3CG","PIK3R1","PLCG2","POLE","POMP","POU2AF1","PRIM1","PRKCD","PTEN","PTPRC","RAC2","RAG1","RAG2","RASGRP1","RNF168","SASH3","SEMA4D","SH2D1A","SH3KBP1","SIK3","SPI1","SPIB","SPPL2A","STAT2","SYK","TCF3","TCF4","TCN2","TNFRSF11A","TNFRSF13B","TNFRSF13C","TNFSF15","TNPO3","TOM1","TPP2","TYMS","UNG","VPS33A","WAS","XIAP","ZBTB24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_CHRONIC_NEUTROPENIA":{"collection":"C5:HPO","systematicName":"M41639","pmid":"","exactSource":"HP:0410252","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0410252","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHRONIC_NEUTROPENIA","geneSymbols":["CDC40","CXCR2","DNAJC21","EFL1","FIBP","LRBA","PPIL1","SBDS","SLC37A4","SRP54"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_TRANSIENT_NEUTROPENIA":{"collection":"C5:HPO","systematicName":"M41640","pmid":"","exactSource":"HP:0410255","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0410255","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TRANSIENT_NEUTROPENIA","geneSymbols":["CLPB","DNAJC21","EFL1","FIBP","IRAK4","SBDS","SPI1","SRP54"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BRAIN_IMAGING_ABNORMALITY":{"collection":"C5:HPO","systematicName":"M38958","pmid":"","exactSource":"HP:0410263","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0410263","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BRAIN_IMAGING_ABNORMALITY","geneSymbols":["ABCD1","ACAT1","ACP5","ADORA2A","AKT1","ALG1","ALG12","AP2M1","APC2","APOE","ASPA","ATAD3A","ATN1","ATP10A","ATP1A2","ATP1A3","BAP1","BTD","CACNA1A","CACNA1G","CACNG2","CDC42","CHD2","CHMP2B","CNP","COG8","COL25A1","COQ2","COX11","COX16","CREBBP","CYP27A1","DEAF1","DEPDC5","DHPS","DNM1L","DPAGT1","DYRK1A","ECHS1","EHMT1","EIF2AK3","EP300","ERGIC1","FARS2","FBXO28","FOCAD","FOXP1","GALC","GAMT","GATM","GFM2","GRM7","GRN","HMBS","HPDL","HSD17B10","HTRA2","IARS1","IBA57","KARS1","KCNQ2","KCNQ3","KMT2C","LGI1","LYRM4","LYRM7","MAGEL2","MAPT","MECR","MRPS34","MT-CO1","MT-CO2","MT-CO3","MT-ND1","MT-ND4","MT-ND5","MT-ND6","MT-TF","MT-TH","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TW","MTHFR","MTRFR","NAT8L","NAXE","NDUFAF6","NDUFB7","NEXMIF","NF1","NF2","NGLY1","NIPA1","NIPA2","NSD1","PDE2A","PDGFB","PDP1","PIK3CA","POLR3A","POLRMT","PRNP","PRRT2","PSAP","PSEN1","PSEN2","PURA","RAI1","RELN","RERE","RPIA","SATB2","SCN1A","SCN2A","SCN8A","SCYL2","SDHAF1","SDHB","SDHD","SETD2","SH2B1","SIM1","SIN3A","SIN3B","SLC1A3","SLC25A12","SLC2A1","SLC35A2","SLC39A8","SLC6A1","SLC6A8","SMARCB1","SMARCE1","SMO","SNRPN","SPRED1","SQOR","SQSTM1","SUCLG1","SUFU","SYNGAP1","TBCK","TBL1XR1","TELO2","TERT","TMEM106B","TRAF7","TRANK1","TREM2","TREX1","TUBB6","TUBG1","UBE3A","USP7","VARS2","VCP","VPS33A","WDR26"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CIRCULATING_AMYLASE_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M41641","pmid":"","exactSource":"HP:0410282","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0410282","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_AMYLASE_CONCENTRATION","geneSymbols":["CNOT1","DNAJC21","EFL1","NFS1","SBDS","SLC4A4","SRP54"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPOAMYLASEMIA":{"collection":"C5:HPO","systematicName":"M43591","pmid":"","exactSource":"HP:0410289","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0410289","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOAMYLASEMIA","geneSymbols":["CNOT1","DNAJC21","EFL1","SBDS","SRP54"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_NEGATIVISM":{"collection":"C5:HPO","systematicName":"M41642","pmid":"","exactSource":"HP:0410291","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0410291","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEGATIVISM","geneSymbols":["APOL2","APOL4","CHI3L1","COMT","DAOA","DRD3","HTR2A","MTHFR","RTN4R","SYN2"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_ISOHEMAGGLUTININ_LEVEL":{"collection":"C5:HPO","systematicName":"M46410","pmid":"","exactSource":"HP:0410292","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0410292","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ISOHEMAGGLUTININ_LEVEL","geneSymbols":["ARHGEF1","CD19","CD79A","CR2","MALT1","PRKCD","SLC35C1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DECREASED_SPECIFIC_ANTIBODY_RESPONSE_TO_PROTEIN_VACCINE":{"collection":"C5:HPO","systematicName":"M43592","pmid":"","exactSource":"HP:0410294","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0410294","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_SPECIFIC_ANTIBODY_RESPONSE_TO_PROTEIN_VACCINE","geneSymbols":["AICDA","ALG12","ARHGEF1","CD247","CD70","CD81","CORO1A","CTPS1","MALT1","REL","RIPK1","TCF3","TNFRSF9"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_COMPLETE_OR_NEAR_COMPLETE_ABSENCE_OF_SPECIFIC_ANTIBODY_RESPONSE_TO_TETANUS_VACCINE":{"collection":"C5:HPO","systematicName":"M46411","pmid":"","exactSource":"HP:0410295","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0410295","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_COMPLETE_OR_NEAR_COMPLETE_ABSENCE_OF_SPECIFIC_ANTIBODY_RESPONSE_TO_TETANUS_VACCINE","geneSymbols":["AICDA","ALG12","ARHGEF1","CD247","CD81","CORO1A","MALT1","TNFRSF9"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PARTIAL_ABSENCE_OF_SPECIFIC_ANTIBODY_RESPONSE_TO_TETANUS_VACCINE":{"collection":"C5:HPO","systematicName":"M46412","pmid":"","exactSource":"HP:0410297","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0410297","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PARTIAL_ABSENCE_OF_SPECIFIC_ANTIBODY_RESPONSE_TO_TETANUS_VACCINE","geneSymbols":["CD70","CTPS1","REL","RIPK1","TCF3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_DECREASED_SPECIFIC_ANTIBODY_RESPONSE_TO_POLYSACCHARIDE_VACCINE":{"collection":"C5:HPO","systematicName":"M43593","pmid":"","exactSource":"HP:0410299","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0410299","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_SPECIFIC_ANTIBODY_RESPONSE_TO_POLYSACCHARIDE_VACCINE","geneSymbols":["B2M","CARD11","CASP8","CD19","CORO1A","CR2","HYOU1","ICOS","IKBKG","SASH3","TNFRSF13B","TNFRSF13C"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_COMPLETE_OR_NEAR_COMPLETE_ABSENCE_OF_SPECIFIC_ANTIBODY_RESPONSE_TO_UNCONJUGATED_PNEUMOCOCCUS_VACCINE":{"collection":"C5:HPO","systematicName":"M47340","pmid":"","exactSource":"HP:0410300","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0410300","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_COMPLETE_OR_NEAR_COMPLETE_ABSENCE_OF_SPECIFIC_ANTIBODY_RESPONSE_TO_UNCONJUGATED_PNEUMOCOCCUS_VACCINE","geneSymbols":["CASP8","CORO1A","HYOU1","IKBKG","TNFRSF13C"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_PARTIAL_ABSENCE_OF_SPECIFIC_ANTIBODY_RESPONSE_TO_UNCONJUGATED_PNEUMOCOCCUS_VACCINE":{"collection":"C5:HPO","systematicName":"M43594","pmid":"","exactSource":"HP:0410301","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0410301","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PARTIAL_ABSENCE_OF_SPECIFIC_ANTIBODY_RESPONSE_TO_UNCONJUGATED_PNEUMOCOCCUS_VACCINE","geneSymbols":["CD19","CR2","ICOS","SASH3","TNFRSF13B","TNFRSF13C"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_FRONTAL_BONE_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M46413","pmid":"","exactSource":"HP:0430000","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0430000","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FRONTAL_BONE_MORPHOLOGY","geneSymbols":["ABL1","ACAN","ACOX1","ACP5","ADK","AGO2","AIP","ALDH18A1","ALDH6A1","ALG9","ALPL","ALX1","ALX4","AMER1","ANKRD11","ANTXR1","AP1G1","APC","ARID1B","ARID2","ATAD3A","ATIC","ATP6V0A2","ATP6V1B2","B3GALT6","B3GAT3","B3GLCT","B9D1","B9D2","BAP1","BGN","BICRA","BMPR1A","BRAF","BRCA1","BRCA2","BRIP1","BRWD3","BUB1","BUB1B","BUB3","C12orf57","CACNA1C","CAMKMT","CASZ1","CBL","CCDC22","CCDC8","CDC42BPB","CDH2","CDKN1C","CEP57","CHD1","CHD3","CHD5","CHRNA7","CHST3","CKAP2L","CLCN3","CLCN7","COG4","COL11A1","COL11A2","COL1A1","COL1A2","COL2A1","COL9A2","COX4I1","COX5A","CPLANE1","CPLX1","CREBBP","CRIPT","CRPPA","CRTAP","CSGALNACT1","CSPP1","CTBP1","CTNNB1","CTNS","CTSK","CUL7","CUX1","CWC27","CYP27B1","CYP2R1","D2HGDH","DDR2","DDX59","DDX6","DEAF1","DENND5A","DHCR24","DICER1","DLK1","DLX3","DLX5","DPYSL5","DSE","DVL1","DVL3","DYNC2H1","DYNC2I1","DYNC2I2","EBP","EDA","EDA2R","EDAR","EDARADD","EFNB1","EIF5A","EMC10","EP300","EPB41","EPB41L1","ERCC4","ERF","EXTL3","FAM149B1","FANCA","FANCB","FANCC","FANCD2","FANCE","FANCF","FANCG","FANCI","FANCL","FANCM","FBN1","FBN2","FGFR1","FGFR2","FGFR3","FH","FLI1","FLII","FLNA","FLNB","FMR1","FUCA1","FZD2","GABRD","GATAD2B","GJA1","GJA5","GJA8","GK","GLB1","GLI3","GMNN","GNB2","GNE","GNS","GPC6","GPR101","GRB10","GRIN1","GYPC","H3-3A","H3-3B","HBA1","HBA2","HBB","HDAC4","HDAC6","HECTD4","HEPACAM","HERC1","HK1","HMGA2","HNRNPU","HOXD13","HRAS","HSD17B4","HSPG2","IDUA","IFT122","IFT140","IFT43","IFT52","IFT80","IGF2","IKBKG","IL11RA","INPPL1","INTS1","INTU","IPO8","IQSEC2","ITCH","JAG1","JARID2","KAT6A","KATNIP","KCNAB2","KCNJ1","KCTD1","KDM1A","KIAA0586","KIAA0753","KIDINS220","KIF7","KLF1","KMT2B","KNSTRN","KPTN","KRAS","KYNU","LARS1","LBR","LEMD3","LETM1","LIFR","LRP4","LRP5","LUZP1","MAD2L2","MADD","MAGEL2","MAN1B1","MAN2B1","MAP2K1","MAP2K2","MBD5","MBTPS2","MED12","MED13L","MED27","MEG3","MEGF8","MEN1","MID1","MITF","MMP2","MMP23B","MOCS1","MOCS2","MPDZ","MSX2","MTHFR","MTOR","MTX2","NAA10","NALCN","NCAPG2","NELFA","NEU1","NFIA","NFIX","NFKBIA","NLRP3","NONO","NPR2","NRAS","NSD1","NSD2","NTNG2","NXN","OBSL1","OCRL","OFD1","OPHN1","ORC1","OSGEP","P4HB","PAFAH1B1","PAK1","PALB2","PAM16","PCGF2","PDE4D","PDE6D","PDGFRB","PDHA1","PDPN","PEX5","PEX7","PHEX","PIGG","PIGL","PIGN","PIK3CA","PIK3CD","PIK3R1","PIK3R2","PLA2G6","PLAG1","PLCH1","PNPLA6","POLE","POLR1B","POLR1C","POLR1D","POLR3A","POR","POU1F1","PPM1B","PPP1CB","PPP2CA","PPP2R5D","PRDM16","PREPL","PRIM1","PRKCZ","PRKD1","PRMT7","PTCH1","PTCH2","PTDSS1","PTEN","PTHLH","PURA","PYCR1","RAB39B","RAD51","RAD51C","RAI1","RECQL4","RERE","RFWD3","RFX7","RNPC3","RNU12","ROR2","RPS6KA3","RSPRY1","RTL1","RUNX2","SALL4","SATB2","SCN4A","SCNM1","SEC23A","SEC24D","SETBP1","SIK3","SIN3A","SIX2","SIX6","SKI","SKIC3","SLC26A2","SLC34A3","SLC39A13","SLC3A1","SLX4","SMARCA2","SMARCD1","SMC3","SMC5","SMG8","SMOC1","SNX10","SNX14","SON","SOST","SOX2","SOX5","SOX9","SP7","SPECC1L","SPEN","SPOP","SPRTN","SPTA1","SPTB","STAG2","STAT3","SUFU","SUPT16H","TBC1D24","TBCD","TBCE","TBX15","TBX4","TCF20","TCIRG1","TCOF1","TCTN3","TGFB1","THUMPD1","TIMM50","TMEM216","TOGARAM1","TONSL","TOPORS","TRIM37","TRIO","TRIP11","TRIP13","TRPS1","TRPV6","TTC26","TWIST1","UBE2T","UBE4B","UGP2","UNC80","USB1","VANGL2","VDR","VPS35L","WASHC5","WDR19","WDR35","WNT5A","XRCC2","YWHAE","ZEB2","ZNF148"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_MORPHOLOGY_OF_MUSCULATURE_OF_PHARYNX":{"collection":"C5:HPO","systematicName":"M47341","pmid":"","exactSource":"HP:0430015","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0430015","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MORPHOLOGY_OF_MUSCULATURE_OF_PHARYNX","geneSymbols":["GIPC1","LRP12","MATR3","NOTCH2NLC","PLP1","RILPL1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPERPLASIA_OF_THE_MAXILLA":{"collection":"C5:HPO","systematicName":"M41643","pmid":"","exactSource":"HP:0430028","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0430028","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERPLASIA_OF_THE_MAXILLA","geneSymbols":["AP2M1","ESCO2","FHL1","HBB","SIN3A","SOBP","SOX5","WDR26","ZBTB11","ZNF668"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MOON_FACIES":{"collection":"C5:HPO","systematicName":"M45509","pmid":"","exactSource":"HP:0500011","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0500011","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MOON_FACIES","geneSymbols":["ARMC5","ATRX","BRAF","CDH23","GNAS","H4C5","NR3C1","PDE11A","PRKACA","PRKAR1A","TP53","USP48","USP8","XYLT1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_GONADOTROPIN_RELEASING_HORMONE_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M47342","pmid":"","exactSource":"HP:0500012","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0500012","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_GONADOTROPIN_RELEASING_HORMONE_CONCENTRATION","geneSymbols":["ANOS1","CCDC141","CHD7","DCC","DUSP6","FEZF1","FGF17","FGF8","FGFR1","FLRT3","HESX1","HS6ST1","IL17RD","NDNF","PROK2","PROKR2","SEMA3A","SOX10","SPRY4","TACR3","WDR11"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CARDIAC_TEST":{"collection":"C5:HPO","systematicName":"M38960","pmid":"","exactSource":"HP:0500015","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0500015","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CARDIAC_TEST","geneSymbols":["AKAP9","ANK2","CACNA1C","CALM1","CALM2","CALM3","CAV3","DSG2","KCNE1","KCNE2","KCNH2","KCNJ5","KCNQ1","NOS1AP","NPPA","SCN10A","SCN4B","SCN5A","SNTA1","SVIL","TBX5","TRDN","TTR"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CARDIAC_EXERCISE_STRESS_TEST":{"collection":"C5:HPO","systematicName":"M43595","pmid":"","exactSource":"HP:0500018","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0500018","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CARDIAC_EXERCISE_STRESS_TEST","geneSymbols":["AKAP9","ANK2","CACNA1C","CALM1","CALM2","CALM3","CAV3","KCNE1","KCNE2","KCNH2","KCNJ5","KCNQ1","NOS1AP","SCN10A","SCN4B","SCN5A","SNTA1","TBX5","TRDN"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CARDIAC_BIOMARKER_TEST":{"collection":"C5:HPO","systematicName":"M46414","pmid":"","exactSource":"HP:0500020","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0500020","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CARDIAC_BIOMARKER_TEST","geneSymbols":["DSG2","NPPA","SCN5A","SVIL","TTR"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CIRCULATING_DEHYDROEPIANDROSTERONE_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M43596","pmid":"","exactSource":"HP:0500022","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0500022","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_DEHYDROEPIANDROSTERONE_CONCENTRATION","geneSymbols":["CDKN2A","CTNNB1","CYP17A1","HSD3B2","MC2R","MRAP","NNT","POR","PRKAR1A","STAR","TERT","TP53","TXNRD2","WNT4","ZNRF3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MYOPIC_ASTIGMATISM":{"collection":"C5:HPO","systematicName":"M46415","pmid":"","exactSource":"HP:0500041","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0500041","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MYOPIC_ASTIGMATISM","geneSymbols":["ARPC4","BLOC1S3","CNGA3","COL1A2","KIF11","MAPK8IP3","TFE3","VARS1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_FOOD_ALLERGY":{"collection":"C5:HPO","systematicName":"M38962","pmid":"","exactSource":"HP:0500093","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0500093","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOOD_ALLERGY","geneSymbols":["ABCC9","CAMK2B","CARD11","DOCK8","DSG1","FOCAD","FOXP3","IGHG2","IGKC","IL6ST","JAK1","PGM3","RBM8A","SLC27A4","SOX6","SPINK5","SPTBN1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_BLOOD_CARBON_DIOXIDE_LEVEL":{"collection":"C5:HPO","systematicName":"M38963","pmid":"","exactSource":"HP:0500164","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0500164","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BLOOD_CARBON_DIOXIDE_LEVEL","geneSymbols":["ACTA1","CACNA1S","HACD1","ITGA7","LRP12","MAP3K20","MYL2","NDUFS8","PHOX2B","RYR1","SELENON","STAC3","TPM2","TPM3"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_HYPERGASTRINEMIA":{"collection":"C5:HPO","systematicName":"M41644","pmid":"","exactSource":"HP:0500167","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0500167","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERGASTRINEMIA","geneSymbols":["CDKN1A","CDKN1B","CDKN2B","CDKN2C","MCOLN1","MEN1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CSF_CARBOXYLIC_ACID_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M41645","pmid":"","exactSource":"HP:0500183","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0500183","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CSF_CARBOXYLIC_ACID_CONCENTRATION","geneSymbols":["AASS","ADK","ALDH5A1","AMT","ASL","BOLA3","DLAT","DLD","GCH1","GLUL","GLYCTK","IBA57","LONP1","NADK2","NDUFA4","NFU1","PDHA1","PDHX","PET117","PSAT1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CSF_SERINE_FAMILY_AMINO_ACID_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M47343","pmid":"","exactSource":"HP:0500225","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0500225","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CSF_SERINE_FAMILY_AMINO_ACID_CONCENTRATION","geneSymbols":["AMT","BOLA3","GLYCTK","IBA57","NFU1","PSAT1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INCREASED_CSF_GLYCINE_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M47344","pmid":"","exactSource":"HP:0500230","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0500230","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_CSF_GLYCINE_CONCENTRATION","geneSymbols":["AMT","BOLA3","GLYCTK","IBA57","NFU1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_CSF_PYRUVATE_FAMILY_AMINO_ACID_CONCENTRATION":{"collection":"C5:HPO","systematicName":"M41646","pmid":"","exactSource":"HP:0500231","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:0500231","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CSF_PYRUVATE_FAMILY_AMINO_ACID_CONCENTRATION","geneSymbols":["DLAT","LONP1","NDUFA4","PDHA1","PDHX","PET117"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_MANDIBULAR_RAMUS_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M38965","pmid":"","exactSource":"HP:3000003","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:3000003","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MANDIBULAR_RAMUS_MORPHOLOGY","geneSymbols":["EDN1","GNAI3","HMX1","KCNJ2","NFIX","PLCB4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_MASSETER_MUSCLE":{"collection":"C5:HPO","systematicName":"M47345","pmid":"","exactSource":"HP:3000005","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:3000005","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_MASSETER_MUSCLE","geneSymbols":["CACNA1S","GIPC1","LRP12","NOTCH2NLC","RILPL1","RYR1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMALITY_OF_CARTILAGE_OF_EXTERNAL_EAR":{"collection":"C5:HPO","systematicName":"M38966","pmid":"","exactSource":"HP:3000022","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:3000022","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_CARTILAGE_OF_EXTERNAL_EAR","geneSymbols":["ABCC6","DHX30","EDN1","ENPP1","FGFR2","FGFR3","GNAI3","HS2ST1","MGP","NSD2","PLCB4","STEEP1","TCTN3","TWIST1","ZBTB20","ZNF462"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_MORPHOLOGY_OF_BONY_ORBIT_OF_SKULL":{"collection":"C5:HPO","systematicName":"M47346","pmid":"","exactSource":"HP:3000030","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:3000030","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MORPHOLOGY_OF_BONY_ORBIT_OF_SKULL","geneSymbols":["ADAMTS10","ALG9","CACNA1C","ESCO2","FBN1","FGFR1","FGFR2","FLNB","GNPTAB","HERC1","HNRNPK","HYMAI","INPPL1","KCNJ6","LEMD2","LMNA","MAF","MITF","MTX2","NFIX","P4HB","PDGFRB","PLAGL1","PLOD3","POLA1","PTCH1","SERPINH1","SETBP1","SHPK","SIN3A","SKI","TWIST1","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_HEAD_BLOOD_VESSEL_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M38967","pmid":"","exactSource":"HP:3000036","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:3000036","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_HEAD_BLOOD_VESSEL_MORPHOLOGY","geneSymbols":["ABCC6","ABCG5","ABCG8","ANTXR1","APOB","ARVCF","ASAH1","BAZ1B","BCL7B","BEST1","BUD23","CLIP2","COL4A1","COMT","CTSA","CYP1B1","DARS1","DNAJC30","EFEMP1","EIF4H","ELN","ENPP1","F12","FKBP6","FUCA1","FZD4","GALC","GLB1","GM2A","GP1BB","GTF2I","GTF2IRD1","GTF2IRD2","HEXA","HEXB","HIRA","HOXA1","IGFBP7","JMJD1C","LDLR","LDLRAP1","LIMK1","LMX1B","LRP5","METTL27","MLXIPL","MT-ATP6","MT-CO3","MT-CYB","MT-ND1","MT-ND2","MT-ND4","MT-ND4L","MT-ND5","MT-ND6","MYOC","NCF1","NDE1","NDP","NEK1","NEU1","NF1","PCSK9","POLR3A","PRPF3","PSAP","PTDSS1","RFC2","RREB1","SEC24C","SELENOI","SMPD1","STX1A","TBL2","TBX1","TMEM231","TMEM270","TULP1","UFD1","VPS37D","YME1L1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_ODONTOID_TISSUE_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M38968","pmid":"","exactSource":"HP:3000050","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:3000050","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ODONTOID_TISSUE_MORPHOLOGY","geneSymbols":["AARS1","ACP4","ADGRV1","AIRE","AKT1","ALDH3A2","AMBN","AMELX","AMTN","ANAPC1","APC","ARVCF","ATR","ATRIP","AXIN2","B3GALT6","BAZ1B","BCL7B","BMP1","BUD23","CARS1","CCDC134","CCDC8","CDH23","CENPE","CENPJ","CEP152","CHD3","CIB2","CLDN1","CLDN19","CLEC7A","CLIP2","CNNM4","COG6","COL17A1","COL1A1","COL1A2","COL7A1","COMT","COX7B","CREBBP","CRTAP","CTBP1","CTSK","CUL7","CYP27B1","CYP2R1","DDX59","DHCR7","DIAPH1","DLX3","DNA2","DNAJC21","DNAJC30","DSPP","EDA","EDARADD","EIF4H","ELMO2","ELN","ENAM","EP300","ERCC1","ERCC2","ERCC3","ERCC4","ERCC6","ERCC8","ESPN","FAM20A","FAM20C","FAM83H","FBXO28","FERMT1","FGF10","FGF3","FGFR1","FGFR2","FGFR3","FKBP10","FKBP6","FLNB","GALNS","GALNT3","GJA1","GLB1","GNAS","GNB2","GP1BB","GPR68","GRHL2","GTF2E2","GTF2H5","GTF2I","GTF2IRD1","GTF2IRD2","HCCS","HIRA","HLA-DQA1","HLA-DQB1","HRAS","IFITM5","IFT122","IFT43","IFT52","IKBKG","IL17F","IL17RA","IL17RC","IRF6","IRX5","ITGA6","ITGB4","ITGB6","JMJD1C","KCNJ2","KLK4","KRT14","KRT5","LAMA3","LAMB3","LAMC2","LIMK1","LMX1B","LONP1","LRP4","LRP6","LTBP3","MBTPS2","METTL27","MIA3","MLXIPL","MMP1","MMP20","MPLKIP","MSX1","MYO7A","NCF1","NDUFB11","NECTIN1","NECTIN4","NF1","NUP133","NUP85","OBSL1","OCRL","ODAPH","OFD1","ORAI1","P3H1","P4HB","PAK2","PAX9","PCDH15","PCNT","PDE4D","PDZD7","PEX1","PEX6","PGAP1","PHEX","PIK3C2A","PIK3R1","PLEC","PLK4","POLR1B","POLR1C","POLR1D","PORCN","PPIB","PTDSS1","PTEN","RAD21","RBBP8","RECQL4","RELT","RFC2","RHOA","RNF113A","RNU12","ROGDI","RREB1","RUNX2","SATB1","SCUBE3","SEC24C","SEC24D","SERPINF1","SERPINH1","SLC10A7","SLC13A5","SLC24A4","SLC29A3","SLC35A2","SMARCA2","SMARCD2","SMOC2","SP6","SP7","SPARC","STIM1","STX16","STX1A","SUMO1","TARS1","TBCE","TBL2","TBX1","TCIRG1","TCOF1","TGFA","TMEM165","TMEM270","TNFRSF11A","TP63","TRAF3IP2","TRAIP","TRIM37","TRIP11","TSC1","TTC7A","UFD1","USH1C","USH1G","USH2A","VDR","VPS37D","WDR19","WDR35","WDR72","WHRN","WNT10A","WNT10B","ZNF469"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_INTERNAL_CAROTID_ARTERY_MORPHOLOGY":{"collection":"C5:HPO","systematicName":"M38969","pmid":"","exactSource":"HP:3000062","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:3000062","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_INTERNAL_CAROTID_ARTERY_MORPHOLOGY","geneSymbols":["ABCG5","ABCG8","APOB","HOXA1","LDLR","LDLRAP1","LMX1B","NDE1","NF1","PCSK9"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_BRONCHOCONSTRICTION":{"collection":"C5:HPO","systematicName":"M43597","pmid":"","exactSource":"HP:4000007","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:4000007","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BRONCHOCONSTRICTION","geneSymbols":["ALOX5","CCL11","GALNS","HLA-G","HNMT","IL13","MUC7","PLA2G7","PTGER2","SCGB3A2","TBX21","TNF"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_EXANTHEM":{"collection":"C5:HPO","systematicName":"M43598","pmid":"","exactSource":"HP:4000054","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:4000054","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EXANTHEM","geneSymbols":["ANK1","ASXL1","BTNL2","CBL","EPB42","HLA-DRB1","IKBKG","KIT","MVK","NLRP3","PRF1","RUNX1","SLC4A1","SPTA1","SPTB","SRSF2","STX11","STXBP2","TET2","TNFRSF1A","UNC13D","ZNFX1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_LUNG_DEVELOPMENT":{"collection":"C5:HPO","systematicName":"M43599","pmid":"","exactSource":"HP:4000059","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:4000059","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LUNG_DEVELOPMENT","geneSymbols":["AARS2","ACE","ACTA1","ADGRG6","AGT","AGTR1","AKT1","ALDH1A2","ALG3","ALG9","ARVCF","ASCC1","ATP5F1A","B3GALT6","BCOR","BMPER","BUB1","BUB1B","BUB3","CC2D2A","CCDC103","CCDC39","CCDC40","CCDC65","CCNO","CDC45","CEP120","CEP55","CEP57","CFAP221","CFAP298","CFAP300","CFAP74","CHRM3","CHRNA1","CHRND","CHRNG","CHUK","COL2A1","COMT","COQ7","CPLX1","CSPP1","CTBP1","CTNNA2","CUX1","DGCR2","DGCR6","DGCR8","DHCR7","DLK1","DNAAF1","DNAAF11","DNAAF2","DNAAF3","DNAAF4","DNAAF5","DNAAF6","DNAH1","DNAH11","DNAH5","DNAH9","DNAI1","DNAI2","DNAJB13","DNAL1","DOK7","DONSON","DPAGT1","DRC1","DYNC2H1","DYNC2I1","DYNC2I2","DYNC2LI1","DZIP1L","EMG1","ESS2","ETFA","ETFB","ETFDH","EVC","EVC2","FAM20C","FANCB","FGF20","FGFR3","FLCN","FLNA","FLNB","FOXF1","FOXJ1","FRAS1","FREM2","FUZ","GAS2L2","GAS8","GATA6","GBA1","GDF1","GFRA1","GLDN","GLE1","GLI1","GLI3","GP1BB","GPC3","GPC4","GPKOW","GREB1L","GRIP1","HIRA","HOXD13","HSPG2","HYDIN","HYLS1","IFT140","IFT172","IFT80","IFT81","INTU","INVS","ITGA8","JMJD1C","KAT6B","KIAA0586","KIAA0753","KIF21A","KLHL40","KLHL41","LBR","LETM1","LGI4","LIFR","LMNA","LMOD3","LONP1","LRRC56","LTBP4","MCIDAS","MCTP2","MEG3","MEIS2","MKKS","MKS1","MUSK","MYH11","MYH3","MYOD1","MYRF","NAA10","NDUFB10","NEB","NEK1","NEK10","NEK8","NEK9","NELFA","NKX2-6","NME5","NME8","NODAL","NPHP3","NSD2","NSDHL","NUP88","ODAD1","ODAD2","ODAD3","ODAD4","OFD1","PEX1","PHGDH","PI4KA","PIEZO2","PIGG","PIGN","PIGT","PKHD1","PLXND1","PORCN","PRKACA","PRKACB","PRRX1","PTEN","PTH1R","PUF60","RAPSN","RARB","RBM10","REN","RET","RLIM","RPGR","RREB1","RSPH1","RSPH3","RSPH4A","RSPH9","RSPO2","RTL1","RYR1","SCN4A","SEC24C","SETBP1","SF3B2","SLC18A3","SLC25A24","SLC26A2","SLC31A1","SMO","SON","SPAG1","SPECC1L","SPEF2","STK36","STRA6","TAPT1","TBX1","TCTN3","TMEM94","TRIP11","TRIP13","TRIP4","TRPV4","TTC12","TTC21B","TUBA1A","TXNDC15","UFD1","VANGL1","WDR19","WDR35","WNT3","WNT4","WNT7B","WNT9B","WT1","ZFPM2","ZIC3","ZMPSTE24","ZMYND10"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_LANGUAGE_FEATURE":{"collection":"C5:HPO","systematicName":"M47347","pmid":"","exactSource":"HP:4000072","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:4000072","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LANGUAGE_FEATURE","geneSymbols":["ACTB","ACTG1","ADAMTS2","ADAMTSL2","ADNP","AMER1","ATP6AP2","CHD8","CHMP2B","CKAP2L","COL1A1","COL1A2","COX7B","CYLD","EHMT1","FGFR1","FLCN","GRIK2","GRN","HCCS","HDC","HERC2","KRAS","MAPT","NAGS","NDUFB11","PANK2","PDZD8","PLEC","PSEN1","PUF60","RAI1","SLC25A13","SLC35C1","SLITRK1","SMARCA2","SNAP25","SPTBN1","SQSTM1","TCF4","TMEM106B","TREM2","UBE2A","VCP","XPR1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SENSORY_SEEKING":{"collection":"C5:HPO","systematicName":"M47348","pmid":"","exactSource":"HP:4000079","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:4000079","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SENSORY_SEEKING","geneSymbols":["ATP10A","CHMP2B","CRB1","CRLS1","DCTN1","GRN","GUCY2D","MAPT","NMNAT1","PRKAR1B","PRNP","PSEN1","RAI1","RFX7","RPE65","SHANK3","SNRPN","SQSTM1","TMEM106B","TREM2","TULP1","UBE3A","VCP"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_MIDLINE_HAND_MOVEMENTS":{"collection":"C5:HPO","systematicName":"M47349","pmid":"","exactSource":"HP:5200009","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:5200009","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MIDLINE_HAND_MOVEMENTS","geneSymbols":["AP1S2","CACNA1B","CDKL5","CELF2","CNTNAP2","DHX30","DYRK1A","GABBR2","GNAI1","GRIA2","GRIN1","GRIN2A","H4C5","HDAC4","IQSEC2","KCNB1","LARP7","LMNB1","MECP2","MGAT2","NACC1","NEXMIF","NTNG1","SATB1","SMC1A","VAMP2","ZBTB18"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_INTONATION":{"collection":"C5:HPO","systematicName":"M47350","pmid":"","exactSource":"HP:5200010","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:5200010","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_INTONATION","geneSymbols":["ADAMTSL2","AR","ARID1B","BLM","BRD4","BSCL2","CHRNB1","CTNND2","CWF19L1","DNAJC13","EED","EIF4G1","ERCC4","EZH2","FAM111A","FBXO7","FMR1","GBA1","GHR","GIGYF2","GRB10","GRIN2A","HDAC8","HSPG2","IGF1R","ITPA","LMNA","LRRK2","MDM2","MED12","MFN2","MORC2","MTX2","MYH7","NBAS","NIPBL","NSD1","ORC4","P4HB","PCNT","POC1A","POLD1","PPP1R15B","RAD21","RBBP8","RIN2","SEC24D","SELENON","SEMA5A","SERPINH1","SMARCAL1","SMC1A","SMC3","SNCA","SRCAP","SRPX2","STAT5B","SUZ12","SYT2","TRIM37","TRMT10A","TRPS1","TTN","VPS35","WRN","XRCC4","ZMPSTE24"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_MOVEMENTS_OF_FACE_AND_HEAD":{"collection":"C5:HPO","systematicName":"M47351","pmid":"","exactSource":"HP:5200017","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:5200017","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MOVEMENTS_OF_FACE_AND_HEAD","geneSymbols":["ADNP","AFF3","ANK3","ATG7","BRAF","CACNA1B","CACNA2D1","CAMK2B","CDKL5","CERT1","CRB1","DDC","DHX30","DPAGT1","EEF1A2","FOXG1","GABBR2","GLYCTK","GNB2","GRIK2","GRIN1","GUCY2D","H4C5","HNRNPK","HTT","KAT5","KIF15","MAPK1","MBD5","MECP2","NEXMIF","NMNAT1","NTNG1","NTNG2","OCA2","PDE2A","PGAP3","PIGF","PUS7","RAI1","RHOBTB2","RPE65","SHANK3","SMC1A","SNRPN","SPTBN1","SVBP","TAOK1","TPR","TRAPPC9","TULP1","UBE3A","VPS13A","ZBTB18","ZEB2","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_MOVEMENTS_OF_THE_UPPER_EXTREMITIES":{"collection":"C5:HPO","systematicName":"M47352","pmid":"","exactSource":"HP:5200018","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:5200018","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MOVEMENTS_OF_THE_UPPER_EXTREMITIES","geneSymbols":["AFF2","AP1S2","ASXL3","BCL11A","CACNA1B","CCNK","CDK19","CDKL5","CELF2","CHD8","CIC","CNTNAP2","CSNK2A1","CUX2","DHPS","DHX30","DYRK1A","FMR1","GABBR2","GNAI1","GRIA2","GRIK2","GRIN1","GRIN2A","H4C5","HDAC4","HECW2","HERC2","HNRNPH2","IQSEC2","KCNB1","KMT5B","LARP7","LMNB1","MBD5","MECP2","MGAT2","NAA20","NACC1","NEXMIF","NOVA2","NTNG1","OCA2","PDZD8","PRKAR1B","SATB1","SMC1A","SYNGAP1","TRAPPC6B","TRAPPC9","UBE3A","VAMP2","ZBTB18"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_MOVEMENTS_OF_THE_WHOLE_BODY":{"collection":"C5:HPO","systematicName":"M47353","pmid":"","exactSource":"HP:5200019","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:5200019","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MOVEMENTS_OF_THE_WHOLE_BODY","geneSymbols":["AFF2","DPAGT1","GNB2","KIF15","NEXMIF","RAI1","WDR26","YME1L1","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_RELATIONSHIP":{"collection":"C5:HPO","systematicName":"M47354","pmid":"","exactSource":"HP:5200024","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:5200024","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RELATIONSHIP","geneSymbols":["AP2M1","CHD2","MECP2","NEXMIF","NLGN3","NLGN4X","SCN1A","SLC2A1","SLC6A1","SYNGAP1"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SOCIAL_DISINHIBITION":{"collection":"C5:HPO","systematicName":"M47355","pmid":"","exactSource":"HP:5200029","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:5200029","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SOCIAL_DISINHIBITION","geneSymbols":["BAZ1B","BCL7B","BUD23","CHAMP1","CLIP2","DDX59","DNAJC30","EIF4H","ELN","FKBP6","GTF2I","GTF2IRD1","GTF2IRD2","KANSL1","LIMK1","MED13L","METTL27","MLXIPL","NCF1","PIGH","POGZ","RFC2","SMARCA2","STX1A","TBL2","TMEM270","VPS37D"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_REDUCED_ATTENTION_REGULATION":{"collection":"C5:HPO","systematicName":"M47356","pmid":"","exactSource":"HP:5200044","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:5200044","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_ATTENTION_REGULATION","geneSymbols":["AARS1","AASS","ABCD1","ACTL6B","ADGRL1","ADH5","ADNP","AGO1","AGO2","AHCY","ALDH4A1","ALKBH8","ANAPC1","ANKRD11","ANKRD17","AP2M1","AP3B2","APC2","ARID2","ARPC4","ARSA","ARV1","ARVCF","ASPM","ATP10A","ATP13A2","ATP1A2","ATP1A3","ATP6V0A1","ATP6V1A","ATP9A","AUH","AUTS2","BAP1","BAZ1B","BCL7B","BCORL1","BCR","BMPR1A","BRD4","BUD23","C12orf4","CABP4","CACNA1A","CACNA1B","CACNA1C","CACNA1H","CACNA2D1","CAMTA1","CARS1","CBL","CC2D1A","CDC42BPB","CDH11","CDH2","CDK19","CDK8","CDKN1A","CDKN1B","CDKN1C","CDKN2B","CDKN2C","CDON","CELF2","CHD2","CHD3","CHD5","CHD7","CHD8","CHRNA2","CHRNA4","CHRNA7","CHRNB2","CIC","CLIP2","CLTC","CNKSR2","CNTNAP2","COMT","COQ5","CORO1A","CRBN","CREBBP","CRH","CRKL","CSGALNACT1","CSNK2A1","CYFIP2","CYP27A1","DALRD3","DCDC2","DDB1","DEAF1","DEPDC5","DHCR7","DHDDS","DHTKD1","DISP1","DLG3","DLL1","DMPK","DNAJC12","DNAJC21","DNAJC30","DNAJC6","DNM1","DPH1","DPH2","DRD4","DRD5","DYM","DYNC1I2","DYRK1A","EEF1A2","EFL1","EIF2AK1","EIF4H","ELN","EMC10","EP300","EPCAM","ERF","FAN1","FANCD2","FANCL","FBXO11","FBXO28","FGD1","FGF12","FGF13","FGF8","FGFR1","FGFR3","FKBP6","FLG","FLI1","FLII","FMR1","FOCAD","FOXG1","FOXH1","FOXP1","FOXP2","FZR1","GABBR2","GABRA1","GABRA2","GABRA5","GABRB2","GABRB3","GABRG2","GALC","GALT","GAS1","GATA4","GLI2","GLRX5","GLUD1","GNAQ","GNB1","GNB5","GNE","GP1BB","GRIA1","GRIA4","GRIK2","GRIN2A","GRIN2D","GTF2I","GTF2IRD1","GTF2IRD2","H4C5","HCN1","HDAC4","HDAC8","HDC","HEPACAM","HERC2","HIRA","HMGA2","HNRNPH2","HNRNPK","HNRNPR","HOXA2","HSPG2","HTRA2","IDS","IFNG","IGF1","IGF2","IKBKG","IQSEC1","IQSEC2","JARID2","JMJD1C","JRK","KANSL1","KAT5","KAT8","KCNA2","KCNA4","KCNB1","KCNN2","KCNT1","KDM3B","KDM4B","KIF11","KIF14","KMT2A","KMT2B","KMT5B","KPNA3","KRAS","LGI3","LHCGR","LIG4","LIMK1","LMAN2L","LRRK2","MADD","MAGEL2","MAN2B1","MAP1B","MAPK1","MBD5","MCTP2","MED12","MED12L","MED13","MEN1","METTL27","METTL5","MID1","MKRN3","MLH1","MLH3","MLXIPL","MSH2","MSH6","MT-CO1","MT-CO2","MT-CO3","MT-ND1","MT-ND4","MT-ND5","MT-ND6","MT-TF","MT-TH","MT-TL1","MT-TQ","MT-TS1","MT-TS2","MT-TW","NAA15","NAT8L","NBEA","NBN","NCF1","NDP","NECAP1","NEXMIF","NF1","NFIA","NFIB","NIPA1","NIPA2","NIPBL","NKAP","NKX2-1","NLGN1","NODAL","NOP56","NPAP1","NR2F1","NSD1","NSUN2","NTRK1","NTRK2","NUS1","OCA2","OCRL","ODC1","OPHN1","PACS2","PAH","PAK3","PANK2","PARK7","PARS2","PCDH19","PCGF2","PCNT","PDGFRB","PDZD8","PHF21A","PHIP","PIDD1","PIEZO2","PIK3CA","PINK1","PLA2G6","PLAG1","PLCH1","PMS1","PMS2","PNKP","PODXL","POLA1","POLG","PPM1D","PPP1R12A","PPP1R21","PPP2CA","PPP3CA","PRKAR1B","PRKCG","PRKD1","PRKN","PRMT7","PRNP","PRR12","PSAP","PSMB1","PTCH1","PTCHD1","PTEN","PURA","PUS7","PWAR1","PWRN1","RAD21","RAI1","RERE","RFC2","RFX7","RIC1","RPS20","RREB1","RSRC1","SATB1","SATB2","SBDS","SCAPER","SCN1A","SCN1B","SCN2A","SCN3A","SCN8A","SCN9A","SEC24C","SECISBP2","SEMA3E","SEMA4A","SETBP1","SETD1A","SETD2","SETD5","SH2B1","SH3KBP1","SHH","SHMT2","SHOC2","SIM1","SIN3A","SIN3B","SIX3","SLC13A5","SLC1A2","SLC25A36","SLC2A1","SLC38A3","SLC6A1","SLC6A19","SLC6A8","SLC7A6OS","SLC9A7","SLF2","SLITRK1","SMARCA2","SMC1A","SMC3","SMC5","SMPD1","SNCA","SNORD115-1","SNORD116-1","SNRPN","SOBP","SOX5","SOX6","SPEN","SPG11","SPG7","SPRED1","SPTBN1","SRCAP","SRP54","SRPX2","STAG2","STEEP1","STIL","STS","STX1A","SUCLG1","SUPT16H","SYNE1","SYNGAP1","SYNJ1","SZT2","TAF1","TANC2","TAOK1","TBC1D23","TBL1X","TBL2","TBX1","TBX2","TDGF1","TET3","TFE3","TGFBR2","TGIF1","THRB","TIAM1","TIMM8A","TKT","TLK2","TMCO1","TMEM163","TMEM270","TMEM67","TNIK","TNPO2","TNRC6B","TPH2","TRAK1","TRAPPC14","TREX1","TRIO","TSC1","TSC2","TSHB","TUBA1A","TUBB2B","TUBB3","TUBG1","TWNK","UBA5","UBE3A","UBE4A","UCHL1","UFD1","UPF3B","USP7","VPS13A","VPS13C","VPS37D","WAC","WBP11","WWOX","YME1L1","YWHAG","YY1","ZBTB20","ZDHHC9","ZIC2","ZMIZ1","ZMYM2","ZNF292"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_REDUCED_IMPULSE_CONTROL":{"collection":"C5:HPO","systematicName":"M47357","pmid":"","exactSource":"HP:5200045","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:5200045","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_IMPULSE_CONTROL","geneSymbols":["AARS1","AASS","ABCA7","ABCC8","ABCD1","ACAT1","ACTL6B","ACY1","ADA2","ADAT3","ADCY3","ADCY5","ADGRL1","ADH1B","ADH1C","ADH5","ADNP","ADSL","AFF2","AGO1","AGO2","AGPAT2","AGRN","ALAD","ALDH5A1","ALDH7A1","ALG14","ALKBH8","ALMS1","AMT","ANAPC1","ANG","ANK3","ANKRD11","ANKRD17","ANXA11","AP1G1","AP2M1","AP3B2","APC2","APP","AQP2","ARG1","ARID1A","ARID1B","ARID2","ARNT2","ARPC4","ARV1","ARVCF","ARX","ASH1L","ASPM","ATP10A","ATP1A1","ATP1A2","ATP1A3","ATP5F1B","ATP6V0A1","ATP6V1A","ATP9A","ATR","ATRX","ATXN2","AUTS2","AVP","AVPR2","BAP1","BAZ1B","BBS9","BCAP31","BCL7B","BCOR","BCORL1","BCR","BMPR1A","BRAF","BRAT1","BRD4","BSCL2","BSND","BUD23","C12orf4","C19orf12","CABP4","CACNA1A","CACNA1B","CACNA1C","CACNA1D","CACNA1H","CACNA2D1","CAMTA1","CARS1","CASK","CASR","CASZ1","CC2D1A","CCBE1","CCNF","CDC42BPB","CDC73","CDH11","CDH2","CDK13","CDK19","CDK8","CDKL5","CDKN1C","CDON","CELF2","CEP152","CFAP410","CHAMP1","CHAT","CHCHD10","CHD2","CHD3","CHD5","CHD7","CHD8","CHKA","CHMP2B","CHRNA2","CHRNA4","CHRNA7","CHRNB2","CIC","CISD2","CLCN3","CLCN4","CLCNKB","CLDN10","CLDN16","CLIP2","CLN5","CLN8","CLTC","CNKSR2","CNTNAP2","COL13A1","COMT","COQ5","CORO1A","COX10","CRBN","CREBBP","CRH","CRKL","CSGALNACT1","CSNK2A1","CTNNB1","CTNS","CUL3","CUL4B","CUX2","CYFIP2","CYP11B1","CYP11B2","CYP27A1","DALRD3","DAO","DCDC2","DCTN1","DCX","DDB1","DDX3X","DDX59","DEAF1","DENND5A","DEPDC5","DHCR7","DHDDS","DHPS","DHTKD1","DISP1","DLG3","DLL1","DMPK","DMXL2","DNAJC12","DNAJC13","DNAJC21","DNAJC30","DNAJC6","DNM1","DNM1L","DNMT1","DPF2","DPH1","DPH2","DPP6","DPYD","DPYSL5","DRD4","DRD5","DYM","DYNC1I2","DYRK1A","DZIP1L","EBP","ECE1","EEF1A2","EIF2AK1","EIF2S3","EIF4G1","EIF4H","ELN","ELP2","EP300","EPCAM","EPHA4","ERBB4","EZH2","FAN1","FANCD2","FANCL","FBXO11","FBXO28","FBXW11","FGD1","FGF12","FGF13","FGF8","FGFR1","FGFR3","FIG4","FIP1L1","FKBP6","FLCN","FLG","FLI1","FLII","FMR1","FOXG1","FOXH1","FOXP1","FOXP2","FRMPD4","FTL","FUS","FUZ","FZR1","GABBR2","GABRA1","GABRA2","GABRA5","GABRB2","GABRB3","GABRD","GABRG2","GALC","GALT","GAMT","GAS1","GATA4","GATAD2B","GBA1","GIGYF2","GLDC","GLE1","GLI2","GLRA2","GLS","GLT8D1","GLUD1","GNAO1","GNAQ","GNAS","GNB1","GNB2","GNB5","GNE","GNS","GP1BB","GPR101","GRB10","GRIA1","GRIK2","GRIN1","GRIN2A","GRIN2D","GRM7","GRN","GTF2I","GTF2IRD1","GTF2IRD2","H3-3A","H4C5","HAL","HCN1","HDAC4","HDAC8","HDC","HEPACAM","HEPHL1","HERC2","HESX1","HGSNAT","HIRA","HIVEP2","HMBS","HMGA2","HNF1A","HNF1B","HNF4A","HNRNPA1","HNRNPH2","HNRNPK","HNRNPR","HOXA2","HPD","HPSE2","HSD11B2","HSD17B10","HSPG2","HTR2A","HTRA2","HTT","HUWE1","IFNG","IFT74","IGF1","IGF1R","IGF2","IKBKG","IL1RAPL1","IL6","INPP5E","INSR","IQSEC1","IQSEC2","IRF2BP2","IRF4","ITPR3","JARID2","JMJD1C","JRK","KANSL1","KAT5","KAT8","KCNA1","KCNA2","KCNA4","KCNAB2","KCNB1","KCNC2","KCNJ1","KCNJ10","KCNJ11","KCNJ5","KCNK9","KCNN2","KCNT1","KDM3B","KDM4B","KDM5C","KDM6B","KIF11","KIF14","KIF15","KL","KMT2A","KMT2B","KMT5B","KNL1","KPNA3","KRAS","LARP7","LEMD3","LEP","LEPR","LGI1","LGI3","LHCGR","LIG4","LIMK1","LMAN2L","LNPK","LRIG2","LRRK2","LSS","LUZP1","LZTFL1","MADD","MAGEL2","MAN1B1","MANBA","MAOA","MAP1B","MAPK1","MAPK10","MAPT","MATR3","MBD5","MC4R","MCTP2","MECP2","MED12","MED12L","MED13","MED13L","MEIS2","MEN1","METTL27","METTL5","MICU1","MID2","MKRN3","MLH1","MLH3","MLXIPL","MMP23B","MN1","MSH2","MSH6","MTOR","MYO9A","MYT1L","NAA15","NAA20","NABP1","NAGLU","NAGS","NAXE","NBEA","NBN","NCF1","NDN","NDP","NDST1","NECAP1","NEFH","NEK1","NEUROD2","NEXMIF","NF1","NFIA","NFIB","NFIX","NGLY1","NIPA1","NIPA2","NIPBL","NKAP","NKX2-1","NLGN1","NLGN3","NLGN4X","NLRP3","NODAL","NONO","NOP56","NPAP1","NPHP1","NPHP3","NPHP4","NPM1","NR2F1","NSD1","NSD2","NSDHL","NSUN2","NTNG1","NTNG2","NTRK1","NTRK2","NUMA1","NUS1","OCA2","OCRL","ODC1","OPHN1","OPTN","OTX2","PACS1","PACS2","PAH","PAK3","PANK2","PARK7","PARS2","PCDH19","PCGF2","PCNT","PCSK1","PDCD6IP","PDE11A","PDE4D","PDGFRB","PDPN","PDSS1","PDZD8","PFN1","PGM2L1","PHF21A","PHIP","PIDD1","PIEZO2","PIGH","PIGP","PIGQ","PIK3CA","PINK1","PKHD1","PLA2G6","PLAG1","PLCH1","PLPBP","PML","PMS1","PMS2","PNKP","PNP","PODXL","POGZ","POLA1","POMC","PON1","PON2","PON3","PPARGC1A","PPM1D","PPP1R12A","PPP1R21","PPP2CA","PPP2R1A","PPP3CA","PRDM16","PREPL","PRKAR1A","PRKAR1B","PRKCG","PRKCZ","PRKD1","PRKN","PRNP","PRODH","PROKR2","PRPH","PRR12","PSEN1","PSEN2","PSMB1","PSMD12","PTCH1","PTCHD1","PTEN","PTPN22","PTS","PUF60","PUS7","PWAR1","PWRN1","RAB39B","RAC1","RAD21","RAI1","RARA","RELN","RERE","RFC2","RFX7","RIC1","RNF13","RPS20","RREB1","RSRC1","RUSC2","SATB1","SATB2","SCAPER","SCN1A","SCN1B","SCN2A","SCN3A","SCN4A","SCN8A","SCN9A","SEC24C","SEMA3E","SEMA4A","SETBP1","SETD2","SETD5","SGCE","SGSH","SH2B1","SH3KBP1","SHANK3","SHH","SHMT2","SHOC2","SHROOM4","SIK1","SIM1","SIN3A","SIX3","SKI","SLC12A3","SLC13A5","SLC18A3","SLC19A3","SLC1A2","SLC1A3","SLC1A4","SLC25A1","SLC25A13","SLC25A22","SLC25A36","SLC2A1","SLC2A3","SLC32A1","SLC38A3","SLC3A1","SLC41A1","SLC5A2","SLC5A7","SLC6A1","SLC6A19","SLC6A8","SLC7A6OS","SLC7A7","SLC9A7","SLF2","SLITRK1","SLITRK2","SMARCA2","SMARCA4","SMARCB1","SMARCC2","SMARCD1","SMARCE1","SMC1A","SMC3","SMC5","SMPD1","SNAP25","SNCA","SNORD115-1","SNORD116-1","SNRPN","SOD1","SORL1","SOX11","SOX2","SOX3","SOX4","SOX5","SOX6","SPAST","SPEN","SPG7","SPR","SPRED1","SPTBN1","SQSTM1","SRCAP","SRPX2","STAG2","STAT3","STAT5B","STEEP1","STIL","STS","STX1A","STXBP1","SUGCT","SUOX","SUPT16H","SYNGAP1","SYNJ1","SYT2","SZT2","TAF1","TAF15","TAF6","TANC2","TAOK1","TARDBP","TAS2R16","TBC1D23","TBC1D2B","TBK1","TBL1X","TBL1XR1","TBL2","TBX1","TBX2","TCF20","TDGF1","TET3","TGFBR2","TGIF1","THRB","TIAM1","TICAM1","TIMM8A","TKT","TLK2","TLR3","TMCO1","TMEM106B","TMEM147","TMEM222","TMEM240","TMEM270","TMEM67","TNIK","TNPO2","TNRC6B","TOMM40","TPH2","TRAF3","TRAK1","TRANK1","TRAPPC14","TRAPPC9","TREM2","TRIM8","TRIO","TRIP12","TSC1","TSC2","TSEN54","TSHB","TSHR","TTI2","TUBA1A","TUBB2B","TUBB3","TUBG1","TYROBP","UBA5","UBE3A","UBE3C","UBE4A","UBE4B","UBQLN2","UBTF","UCHL1","UCP2","UFD1","UNC13A","UNC93B1","UPF3B","UQCC2","UQCRQ","USP7","VAMP1","VANGL1","VAPB","VCP","VPS13A","VPS13C","VPS16","VPS35","VPS37D","WAC","WBP11","WDR62","WFS1","WWOX","YME1L1","YWHAG","YY1","ZBTB16","ZBTB20","ZDHHC9","ZIC2","ZMIZ1","ZMYM2","ZNF292","ZNF699","ZSWIM6"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_SENSORY_BEHAVIORAL_ABNORMALITY":{"collection":"C5:HPO","systematicName":"M47358","pmid":"","exactSource":"HP:5200046","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:5200046","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SENSORY_BEHAVIORAL_ABNORMALITY","geneSymbols":["AARS1","ABCA4","ADAM9","AFG3L2","AGBL5","AHI1","AHR","AHSG","AIPL1","AIRE","ALDH3A2","ALMS1","ANTXR1","AP1B1","AP3B1","AP3D1","ARHGEF18","ARL2BP","ARL3","ARL6","ATF6","ATP10A","ATXN7","AUTS2","BAZ1B","BBS1","BBS2","BCL7B","BEST1","BLOC1S5","BUD23","C1QTNF5","C4A","CA4","CABP4","CACNA1F","CACNA2D4","CARS1","CC2D2A","CCR1","CDHR1","CEP250","CEP78","CERKL","CFAP410","CFAP418","CFH","CFI","CHMP2B","CHST6","CLCC1","CLIP2","CLRN1","CLTRN","CNGA1","CNGA3","CNGB1","CNGB3","CNNM4","COL17A1","COL4A1","COL8A2","CRB1","CREBBP","CRLS1","CRX","CRYGC","CST6","CTNS","DCN","DCT","DCTN1","DDB2","DEAF1","DHDDS","DHX38","DKK1","DNAJC30","DRAM2","EDNRA","EFEMP1","EIF4H","ELN","ELOVL1","ELOVL4","EP300","EPCAM","ERAP1","ERCC1","ERCC2","ERCC3","ERCC4","ERCC5","ERCC6","ERCC8","ESR1","EYS","FAM161A","FAS","FKBP6","FLII","FOXC2","FSCN2","GALC","GAN","GJA1","GJB2","GJB6","GM2A","GNAT2","GNB3","GPR143","GRHL2","GRN","GTF2E2","GTF2H5","GTF2I","GTF2IRD1","GTF2IRD2","GUCA1A","GUCA1B","GUCY2D","GUSB","HADHA","HARS1","HEXB","HGSNAT","HK1","HLA-A","HLA-B","HLA-DRB1","HPS1","HPS6","IDH3A","IDH3B","IFNGR1","IFT140","IFT172","IFT88","IKZF1","IL10","IL12A","IL12A-AS1","IL23R","IMPDH1","IMPG1","IMPG2","INPP5E","IQSEC2","ITGB6","ITM2B","KCNJ13","KCNV2","KIAA1549","KIZ","KLHL7","KLRC4","KRT12","KRT14","KRT3","KRT5","LCA5","LIMK1","LRAT","LRMDA","LSS","LTBP2","LYST","MAK","MAPT","MBTPS2","MC1R","MCOLN1","MEFV","MERTK","METTL27","MFF","MFRP","MLXIPL","MPLKIP","NCF1","NEK2","NLRP1","NLRP3","NMNAT1","NOD2","NOTCH2NLC","NR2E3","NRL","OCA2","OFD1","OPN1LW","OPN1MW","OPN1SW","OVOL2","PCARE","PCNA","PDE6A","PDE6B","PDE6C","PDE6G","PDE6H","PERCC1","PIKFYVE","PITPNM3","PLCD1","PNPLA6","POC1B","POLA1","POLH","POMGNT1","PPM1D","PRCD","PRKAR1B","PRNP","PROM1","PRPF3","PRPF31","PRPF4","PRPF6","PRPF8","PRPH2","PSAP","PSEN1","RAB28","RAI1","RAX2","RBP3","RDH12","RDH5","REEP6","RFC2","RFX7","RGR","RGS9","RGS9BP","RHO","RIMS1","RIMS2","RLBP1","RNF113A","ROM1","RP1","RP1L1","RP2","RP9","RPE65","RPGR","RPGRIP1","RTN4IP1","SAG","SCAPER","SCN1A","SEMA4A","SHANK3","SLC1A3","SLC24A5","SLC39A4","SLC45A2","SLC6A19","SLC7A14","SNRNP200","SNRPN","SPATA7","SQSTM1","SREBF1","ST14","STAT4","STX1A","TACSTD2","TARS1","TAT","TBL2","TGFBI","TIMM8A","TLCD3B","TLR4","TMEM106B","TMEM270","TNF","TOPORS","TP63","TRANK1","TREM2","TRIO","TTC8","TTLL5","TUB","TUBB4B","TULP1","TYR","UBAC2","UBE3A","UNC119","USH2A","VCP","VPS37D","VSX1","WDR45","WNT10A","XPA","XPC","ZEB1","ZNF408","ZNF513"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_AUDITORY_HYPERSENSITIVITY":{"collection":"C5:HPO","systematicName":"M47359","pmid":"","exactSource":"HP:5200060","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:5200060","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AUDITORY_HYPERSENSITIVITY","geneSymbols":["BAZ1B","BCL7B","BUD23","CLIP2","CREBBP","DEAF1","DNAJC30","EDNRA","EIF4H","ELN","EP300","ESR1","FKBP6","FLII","GM2A","GTF2I","GTF2IRD1","GTF2IRD2","HEXB","IQSEC2","LIMK1","METTL27","MLXIPL","NCF1","PPM1D","RAI1","RFC2","SCN1A","SLC1A3","STX1A","TBL2","TMEM270","TNF","TRIO","VPS37D"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_ABNORMAL_RESPONSE_TO_SOCIAL_NORMS":{"collection":"C5:HPO","systematicName":"M47360","pmid":"","exactSource":"HP:5200123","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:5200123","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RESPONSE_TO_SOCIAL_NORMS","geneSymbols":["ADSL","ATP10A","ATRX","BAZ1B","BCL7B","BUD23","CDKL5","CHAMP1","CLIP2","CSF1R","DDX59","DNAJC30","DYRK1A","EIF4H","ELN","FKBP6","GABBR2","GATAD2B","GLI3","GRIK2","GRIN1","GTF2I","GTF2IRD1","GTF2IRD2","HSD17B10","KANSL1","LIMK1","MAPT","MBD5","MECP2","MED13L","METTL27","MLXIPL","NCF1","NOVA2","NTNG1","NTNG2","OCA2","PDE2A","PGAP1","PIGH","PIGS","POGZ","PSEN1","RFC2","SLC6A17","SLC9A6","SMARCA2","SMC1A","SNRPN","STX1A","TBC1D2B","TBL2","TELO2","TMEM270","UBE3A","VPS37D","WDR4"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]},"HP_INSISTENCE_ON_SAMENESS":{"collection":"C5:HPO","systematicName":"M47361","pmid":"","exactSource":"HP:5200130","externalDetailsURL":"https://hpo.jax.org/app/browse/term/HP:5200130","msigdbURL":"https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INSISTENCE_ON_SAMENESS","geneSymbols":["FOXP1","GLRA2","MECP2","NLGN3","NLGN4X","SNRPN"],"filteredBySimilarity":[],"externalNamesForSimilarTerms":[]}}